case study disability child

Case study: ‘He’s a 10-year-old child with disabilities . . . I can’t see how isolating helps’

Debbie kennedy says the regular use of seclusion has worsened her son’s behaviour.

Dylan Kennedy (10) with his mother Debbie Kennedy at home in Dublin. Photograph: The Irish Times

Debbie Kennedy accepts her 10-year-old son can be difficult to handle on occasion.

He’s autistic and has been diagnosed with attention deficit hyperactivity disorder.

There are times when he gets frustrated, angry and stressed. Equally, she says, he can be calmed down quickly with simple interventions.

“He’s very intelligent,” says Kennedy.”He could tell you anything about any car. He loves Top Gear . . . when he does act out, I can control him with one hand or distract him.”

But she says the past past two years have been marked by a sharp deterioration in his behaviour. She puts much of this down to what she says was the overuse of seclusion at school to control his behaviour.

In all, she estimates he was placed in a seclusion or “time-out” room on more than 30 occasions over a two-year period.

While in most cases she was told they were for short periods of time, she maintains that on a several occasions he was placed there for up to two hours at a time.

“In order to help a vulnerable child like Dylan manage his emotions and control his behaviour, he needs support, guidance and explanation,” she says.

“If he’s isolated from others, without guidance or support, I can’t see how that helps. In fact, it’s a more frightening experience – especially for a child with disabilities.”

Benincasa Special School in Blackrock, Co Dublin, said that while it was not in a position to comment on Dylan's individual case, the school had always acted "properly and in accordance with good practice at all times".

In line with its policies, seclusion was only ever used as a measure of last resort and where a child was disruptive to the point of posing an imminent danger to themselves or others.

Kennedy, however, feels the school was too quick to seclude her son and says he regularly came home in tears after being placed in the room, or isolated from the wider class.

“He would spend hours crying, saying how much he wanted to die and felt he wasn’t good enough.”

She also feels he was placed in the room on foot of relatively minor incidents, like throwing a pencil against a blackboard or refusing to do work.

School records, however, show there were occasions when he kicked or punched staff. On one occasion, he is said to have raised a chair in the air, before it was taken from him.

The seclusion room – based on photographs taken by Dylan’s mother – is a small bare room with no furniture.

There is a window with metal bars on the outside. The door has no handle on the inside and there is a peephole for staff.

The school said a staff member was present outside the seclusion room, monitoring the student, at all times.

“The seclusion room is designed with regards to the health and safety of the student in question. The room does not contain certain furniture as such items are often considered safety hazards to both the student or staff members,” it said.

Kennedy ended up withdrawing permission for her son to be placed in the room. Afterwards, she says she would receive phone calls from 9.10am onwards asking her to collect him.

He ended up being taught at home by his mother for long periods and resumed school on a limited basis.

She is careful to say Dylan enjoyed several successful years at his special school prior to this and many staff went out of their way to help and support him. “I couldn’t speak highly enough of them.”

But she feels the use of seclusion has left a damaging legacy which Dylan is still coming to terms with.

“He needs therapy after all that’s happened. We can be out having fun and he’ll mention what happened to him,” she says.

“He is the most caring and affectionate boy. He’s clever and funny and has a huge obsession with cars. I wouldn’t change him for anything.”

Carl O'Brien

Carl O'Brien is Education Editor of The Irish Times. He was previously chief reporter and social affairs correspondent

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Article Contents

Introduction, child development, developmental disability, early intervention for children with developmental disabilities, case studies of eci for children with developmental disabilities, the case for action, author's contributions, acknowledgements, competing interests, ethical approval.

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Early intervention for children with developmental disabilities in low and middle-income countries – the case for action

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Tracey Smythe, Maria Zuurmond, Cally J Tann, Melissa Gladstone, Hannah Kuper, Early intervention for children with developmental disabilities in low and middle-income countries – the case for action, International Health , Volume 13, Issue 3, May 2021, Pages 222–231, https://doi.org/10.1093/inthealth/ihaa044

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In the last two decades, the global community has made significant progress in saving the lives of children <5 y of age. However, these advances are failing to help all children to thrive, especially children with disabilities. Most early child development research has focussed on the impact of biological and psychosocial factors on the developing brain and the effect of early intervention on child development. Yet studies typically exclude children with disabilities, so relatively little is known about which interventions are effective for this high-risk group. In this article we provide an overview of child development and developmental disabilities. We describe family-centred care interventions that aim to provide optimal stimulation for development in a safe, stable and nurturing environment. We make the case for improving opportunities for children with developmental disabilities to achieve their full potential and thrive, including through inclusive early childhood development intervention. Finally, we call for the global research community to adopt a systematic approach for better evidence for and implementation of early interventions for children with developmental disabilities in low-resource settings.

Substantial global progress has been made in reducing child deaths since 1990 and the mortality rate of children <5 y of age has decreased in all world regions. However, non-communicable morbidities and disabilities have not been addressed to the same extent. This review discusses the urgency of taking actions to narrow the inequality gap in early childhood developmental care, especially for the 53 million children <5 y of age living with disabilities and developmental disorders such as epilepsy, intellectual disability, sensory impairments, autism spectrum disorder and attention deficit hyperactivity disorder. 1 A focus on supporting children with disabilities to thrive during their early years is important, as this period is critical for maximising their development. Furthermore, under the United Nations Convention of Rights for a Child and the United Nations Convention of the Rights of Persons with Disabilities, governments are duty-bound to provide early years services that are inclusive of and available to all children. 2 , 3 This article will describe child development and developmental disabilities and make the case for which equitable early childhood development (ECD) interventions may be optimal for helping children with developmental disabilities to achieve their potential.

Early childhood is a period of great opportunity for optimum brain growth, but it is also a period of vulnerability. Development in language, cognition, motor and socio-emotional domains occurs rapidly in these first years. These areas of development do not operate or develop in isolation, but enable each other and mutually interact as the child learns to become more independent. For instance, as a child learns to see, she will increasingly reach for and play with objects and thereby develop motor skills and coordination. Biological, psychosocial 4 , 5 and environmental factors also crucially affect the structure and functioning of the brain as it is developing. 6 For example, if a child experiences adequate nutrition and is provided with opportunities to play, she may progressively explore her environment and interact with her caregiver and by doing so, reinforce her psychosocial development. Furthermore, the time period when these factors influence brain growth are critically important, as there are particular early windows of opportunity that if not harnessed, may prevent optimal brain development and lifelong well-being. 7

It is increasingly apparent that optimal early child development has lifetime beneficial consequences for educational achievement, adult productivity and population health. 8–10 Conversely, exposure to biological and psychosocial risks negatively affects the developing brain and compromises the development of children. 5 Many structural factors determine these early child circumstances. These factors include a lack of nurturing care (nutrition, stimulation, good health) in the early years, as well as inadequate cognitive and psychosocial stimulation. 5 , 11 Children <5 y of age in low- and middle-income countries (LMICs) may be particularly at risk of poor development due to poor health and nutrition. 7

Child development can be encouraged through intervention in early childhood. 11 A number of mutually important elements are needed for maximising children's development. These include supporting responsive relationships, reducing sources of stress in the lives of children and families, building executive function and self-regulation skills and reinforcing contexts in which learning is most achievable across all developmental domains. 12 , 13 ECD interventions work to improve development through integrating family support, health, nutrition and educational services and providing direct learning experiences to young children and families. 14

The strategic focus of the World health Organization (WHO), United Nations Children's Fund (UNICEF) and World Bank ‘Nurturing Care Framework’ is therefore timely. 15–17 This action plan provides a framework for helping children survive and thrive through five strategic actions—lead and invest, focus on families and their communities, strengthen services, monitor progress and use data and innovate—and thereby aims to transform health and human potential. We know that urgent action is necessary to improve early childhood outcomes and ensure that all children reach their full potential as adults. Children with developmental disabilities must be included in this agenda, as they are a marginalised group with additional and specific needs and will otherwise be left behind.

Developmental delay and developmental disability are two distinct concepts. Developmental delay is often defined as a deviation from normative milestones; this may be in terms of delayed cognitive, language, motor and/or socio-emotional development. 18 The term developmental disabilities covers a range of childhood conditions and is used differently across different settings and cultures. 19 In this article we define developmental disability as a heterogeneous group of conditions that can impact on the development of children's function (e.g. sensory, cognitive, physical), with a very wide range of effects. 20 Developmental disability is the most common cause of childhood disability, with an estimated 53 million children <5 y of age living with developmental disabilities globally. 21 This estimate is based on only six conditions (epilepsy, intellectual disability, vision loss, hearing loss, autism and attention deficit hyperactivity disorder) and on present reporting of these conditions. It is likely therefore that the true number of children with developmental disability is much higher than this estimate, particularly if a broader age range is considered.

The majority of children with developmental disabilities live in LMICs, 21 and the prevalence is higher among families with high levels of poverty and low education. 27 However, there remain data gaps for the prevalence, epidemiology and causes of developmental disabilities in LMICs. 28 One reason for the uncertainty in the estimates is that identification of children with or at risk of developmental delay requires assessment using valid developmental evaluation tools to measure ECD 29 (Box 1 ), and these facilities are often not available in LMICs.

Identification of children with developmental disabilities

The impacts of developmental disabilities extend far beyond functional abilities. Children with developmental disabilities and their families are at high risk of social exclusion, exclusion from education and even stigma and violence. 30 Furthermore, looking after a child with developmental disabilities potentially places an enormous strain on families, and caregivers experience high levels of stress, anxiety, depression, physical exhaustion, stigma and discrimination. 31 This further increases the risk of mental ill health and social isolation in caregivers. A recent systematic review found caregivers of children with intellectual and developmental disabilities, when compared with caregivers of children without intellectual and developmental disabilities, experienced elevated levels of depressive symptoms (31% vs 7%, respectively) and anxiety symptoms (31% vs 14%, respectively). 32 There are also substantial costs to childhood disability, both the cost of additional services and resources required by the child and the lost income from parents who are caring for their child. Consequently, childhood disability may exacerbate poverty. 33 , 34 However, there is generally a lack of available services and support for children with disabilities and their families, especially in LMICs, which further compound these risks.

Evidence is limited, but growing, on the effectiveness of ECD interventions for children at risk of and with developmental delays, particularly in LMICs. 35 Indeed, many programmes and studies actively exclude children with developmental disabilities, as additional considerations may be required, and children with developmental disabilities may be unable to show progress when using developmental progress as the primary outcome 9 , 36–38 (Box 2 ).

Inclusion of children with developmental disabilities in clinical trials

Consequently, risks to delayed development are compounded for children with developmental disabilities, as they potentially receive less stimulation and fewer learning opportunities through other health service or care routes. 39 Exclusion of children with developmental disabilities from ECD thus perpetuates an already fragile cycle of development. We know that early childhood developmental intervention for these children is imperative, but we cannot inform planning and delivery of inclusive services for all children without better research in this area. For example, there are gaps in evidence-based approaches to monitoring and evaluation of ECD projects in LMICs, such as challenges in measurement of outcomes in routine programmes, which limit comparative understanding of impact, and in defining and monitoring quality and coverage. 25

Early identification of children with developmental disabilities, as well as early childhood intervention (ECI), improves children's opportunities to maximise their developmental potential and functioning as well as their quality of life and social participation. 40 , 41 Early identification and intervention are two distinct complementary strands; timely identification of children with developmental disabilities is required for early intervention, which strengthens the cumulative process of development, helping children acquire new skills and behaviours to reinforce and strengthen learning. In addition, some ECIs may have wider benefits for caregivers, such as through establishing support, thus helping build their knowledge, confidence and coping strategies, 32 with positive impacts for their mental health. However, data are lacking from LMICs and there is a paucity of implementation evidence to guide policymakers and donors. 33

ECI for children with disabilities can comprise a range of coordinated multidisciplinary services and can take many forms, including hospital- or clinic-based care, school-based programmes, parenting and community support and home-based childhood therapies. In high-resource settings, we know that family-centred interventions are more likely to result in the greatest satisfaction with services and improve psychosocial well-being for the child and caregiver. 42 With regards to impact, a systematic review of ECIs for children at risk of cerebral palsy demonstrated improved cognitive outcomes up to preschool age and improved motor outcomes during infancy, although variability in interventions limited the identification of which interventions are most effective. 43 Nevertheless, without such ECIs in LMICs, years lived with disability will be more than 3.3 million. 1

There are broadly two approaches to providing ECI for children with developmental disabilities, including children with disabilities in mainstream ECD interventions and targeted intervention programmes for children with disabilities. These approaches take many different forms, as they are used to support children and families with different needs. For example, universal programmes in the UK, such as the five mandated health visits for young children, are offered to all families. In contrast, targeted programmes, such as the Disabled Children's Outreach Service (DCOS), are aimed specifically at vulnerable families of children with a disability where the children are at higher risk of poor outcomes in later life. 44

While both inclusive and targeted efforts for children with disabilities at the level of early childhood centres have increased, 45 weak country health systems and conflict settings are major impediments to delivering high-quality services. 46 There remains a need for inclusive approaches for children with developmental disabilities in mainstream services, as well as within specialist ECIs. This means that the role of families can be particularly crucial to fill existing gaps in service availability.

A number of case studies have been identified for ECI for children with developmental disabilities. The following have been selected for description, as they illustrate different approaches for children with different developmental disabilities in several LMIC settings.

The WHO has developed Caregiver Skills Training (CST) for caregivers of children with intellectual disabilities. 47 , 48 The CST consists of nine group sessions and three home visits. The programme teaches strategies to promote communication and learning and address challenging behaviours. However, sustainable and scalable quality delivery of the group format by a lay facilitator remains a challenge due to limited integration in health systems. 49 Evidence of effectiveness is currently lacking, but randomised controlled trials are under way in Pakistan (Family Networks [FaNs] for Children with Developmental Disorders and Delays 50 ) and Italy, with future trials planned in China, Ethiopia and Kenya. 51

Interventions that aim to provide contextualised psychological support to caregivers of children with intellectual disabilities include ‘Titukulane’, a community group intervention that aims to reduce mental health problems among the parents of affected children. 52 This community-based intervention consists of eight modules that have been developed and piloted to help parents cope with the challenging role of caring for a child with intellectual disabilities.

Learning through Everyday Activities with Parents (LEAP-CP) is a family-centred intervention delivered peer to peer at home during 30 weekly 2h visits that aims to improve the mobility of children with cerebral palsy. 53 Visits include therapeutic modules (goal-directed active motor and cognitive strategies and LEAP-CP games) and parent education. Randomised controlled trials are currently under way in India. 54 The trial also provides nutrition and health support to all families in the study, which may influence the findings.

The London School of Hygiene & Tropical Medicine (UK) has developed three caregiver group interventions under the ‘Ubuntu’ umbrella (resources available from www.ubuntu-hub.org ). The interventions consist of 10 sessions, the content of which includes information about essential care practices, such as feeding, positioning, communication and play, offered through a local support group format. ‘Getting to know cerebral palsy’ was developed as a resource to empower families using a participatory approach at the community level. 31 , 55 The ABAaNA Early Intervention Programme (EIP) was developed in response to a recognised need to support families of very young children (<2 y) with an evolving developmental disability. 56 ‘Juntos’ was developed for children with congenital Zika syndrome and their families in Latin America and integrates a strengthened component on caregiver emotional well-being, arguably fundamental to a child's early development. 57–60

Interventions for children with autism spectrum disorder include PASS, a parent-mediated intervention for autism spectrum disorder in India and Pakistan. 61 The intervention uses video feedback methods to address parent–child interaction and was adapted for delivery by non-specialist workers. As PASS is focused on improving a child's social communication, common mental health comorbidities such as sleep difficulties will be important to integrate into wider intervention programmes.

These examples provide good case studies of diverse interventions for different children with developmental disabilities in different low-resource settings. These case studies indicate that in LMICs, the gap in meeting the holistic needs of children with developmental disabilities may be addressed through the use of community-based group interventions facilitated by trained and supervised health or peer support workers. Commonality is the focus on caregiver involvement, which is critical, particularly where there are few health services. Yet formal evaluation of their effectiveness and cost-effectiveness is lacking, in addition to limited implementation with education and social welfare, which hampers scaling of these services.

The number of children with developmental disabilities is large and the impacts on the child and family are extensive. There are valuable lessons learned from case studies, yet there remains insufficient progress in ECI for children with developmental disabilities and unmet needs are widespread. The causes of this gap are complex and diverse. An important reason is that in many settings health services are often fragile, poorly coordinated and overstrained, with concerns about the availability and quality of healthcare workers capable of delivering the intervention. Health systems gaps are particularly important in fragile states, including those affected by war and famine, as they experience many competing pressing needs. Furthermore, the policy agenda supporting a focus on children with developmental disabilities is weak internationally and nationally in many cases, limiting the priority given to this issue and the availability of funding for developing services. Ensuring inclusive education is a clear responsibility for United Nations member states under international treaties and Sustainable Development Goal 4, to ‘ensure inclusive, equitable quality education for all’. However, investing in inclusion prior to schooling is not mandated and consequently becomes optional. Cultural challenges also exist, such as widespread stigma and discrimination around children with disabilities and their families. 62 Finally, the evidence base on needs for and effectiveness of services is currently weak and needs to be strengthened. Enhancing environments that provide equal opportunities for children with developmental disabilities for ECI therefore requires a systems approach with global collaboration.

Accordingly, priorities for future research to ensure that all young children reach their development potential include assessment of the effect of interventions for children with developmental disability and their families in different low-resource settings. Further identification of barriers to accessing general services (e.g. primary healthcare) as well as specialist services is also required, as poverty remains a major issue for affected families in LMICs. Furthermore, studies that identify how to maximise the reach and cost-effectiveness of ECD interventions for children with developmental disabilities are warranted. Evaluation of how these interventions can be embedded within health systems are needed to strengthen the service delivery strategies. Global collaboration in these efforts are required in research, and critical steps include providing best evidence on practices to improve knowledge and skills at local levels to avoid children with developmental disabilities being turned away from existing services and evidence of ‘what works’ to provide sustainable, inclusive ECD interventions with impact in resource-constrained settings. We call for international research communities, including funders, to adopt a systematic approach for better evidence.

ECD interventions are aimed at improving the development of children. However, children with developmental disabilities are often excluded from these programmes, even though they have the greatest need for support. There is still a dearth of research about what interventions are effective in improving outcomes for this marginalised group and an even greater lack of evidence on cost-effectiveness and what can be successfully implemented at scale. A two-pronged approach is likely to be optimal, encouraging the inclusion of children with disabilities in mainstream ECD programmes, while also offering targeted approaches, most likely through caregivers. We call for global collaboration among international research communities, including funders, to adopt a systematic approach to strengthening the available evidence base of interventions for children with developmental disabilities and their families. We call for greater attention for this marginalised group, to prioritise public policies and hold governments accountable to ensure that multisectoral services centred around the child and his/her family are provided during this crucial time. This will contribute to ensuring that all children have an early foundation for optimal development, a key factor in equitable long-term health.

HK conceived the study. TS carried out the analysis and interpretation of case study data. TS and HK drafted the manuscript. MZ, CJT, MG and HK critically revised the manuscript for intellectual content. All authors read and approved the final manuscript. TS and HK are guarantors of the paper. The data underlying this article are available in the article and in its online supplementary material.

This work was supported by the Wellcome Trust and Department for International Development (grant 206719/Z/17/Z to HK). The funders had no role in the study design, data collection and analysis, decision to publish or preparation of the manuscript.

MG is a member of expert panels for the WHO and UNICEF on measurement of childhood development and disability. This research paper was undertaken outside and separate from these duties.

Not required.

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Benfer KA , Novak I , Morgan C et al. . Community-based parent-delivered early detection and intervention programme for infants at high risk of cerebral palsy in a low-resource country (Learning through Everyday Activities with Parents (LEAP-CP): protocol for a randomised controlled trial . BMJ Open . 2018 ; 8 ( 6 ): e021186 .

LEAP-CP Symposium. Early detection and early intervention for children at risk of CP in low-middle income countries. Available from: https://cparf.org/sstposts/StoryId1579066413321 .

Zuurmond M , O'Banion D , Gladstone M et al. . Evaluating the impact of a community-based parent training programme for children with cerebral palsy in Ghana . PLoS One . 2018 ; 13 ( 9 ): e0202096 .

Nampijja M , Webb E , Nanyunja C et al. . Randomised controlled pilot feasibility trial of an early intervention programme for young infants with neurodevelopmental impairment in Uganda: a study protocol . BMJ Open . 2019 ; 9 ( 10 ): e032705 .

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Completed clinical trials with a focus on developmental outcomes

• child development
• developmental disabilities
• disabled children
• early intervention (education)

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Case 2: An 11-year-old girl with aggressive behaviour and intellectual impairment

An 11-year-old Caucasian girl was referred for evaluation of aggressive behaviour that had worsened over the past two years. She experienced frequent outbursts of anger and would scream or bite when she became upset. She was cognitively delayed and could not independently perform activities of daily living such as bathing and eating. Attempts at toilet training were unsuccessful. She exhibited repetitive mannerisms such as hand flapping, eye blinking, repeated hand washing and running in circles. Socialization skills were restricted and eye contact was poor. Family history was significant for four brothers with developmental delay, a maternal aunt with premature menopause, and history of gait instability and tremors in her maternal grandfather since 40 years of age. There was no history of consanguinity. No complications were reported during pregnancy or birth. Her motor milestones were normal. Although she exhibited language delay, she could engage in a conversation with diminished vocabulary.

On physical examination, vital signs were normal. Subtle facial dysmorphism was present ( Figure 1 ). Her head was normocephalic, and cardiac and pulmonary examinations were unremarkable. The patient was noted to be intellectually impaired, hyperactive, had poor eye contact and displayed repetitive behaviour. The remainder of the neurological examination (cranial nerves, motor, sensory and reflexes) was normal.

Patient’s photograph demonstrating subtle dysmorphic features including a long face, thin upper lip and long philtrum

CASE 2 DIAGNOSIS: FRAGILE X SYNDROME

This case is a classic presentation of fragile X syndrome (FXS). FXS is caused by a mutation of the fragile X mental retardation 1 ( FMR1 ) gene on Xq27.3. The vast majority of cases occur as a result of unstable expansion of the CGG repeat in the FMR1 gene. The presence of >200 repeats is associated with hypermethylation, leading to transcriptional silencing and a decrease or absence of the gene product, fragile X mental retardation protein ( 1 ). The diagnosis of FXS is made by assessing the number of CGG repeats using polymerase chain reaction analysis, usually in conjunction with Southern blot analysis, which evaluates the methylation status of the gene. The patient in the present case was genetically confirmed to have the full mutation (667 repeats of CGG), along with four of her brothers.

FXS is the most common cause of inherited intellectual disability and is strongly associated with autism ( 1 ). It may present with features of pervasive developmental disorder including language delay, stereotypic behaviours and social impairment. Children with FXS often experience scholastic problems due to autism in addition to the underlying intellectual disability, and are frequently placed in special education classes or are homeschooled. Other features include attention deficit hyperactivity disorder, hyperextensible joints, mitral valve prolapse, flat feet, hypersensitivity to sensory stimuli and hypotonia ( 1 ). Many patients with FXS, particularly boys, develop seizures in early childhood ( 1 ). Individuals with FXS often have a characteristic physical appearance including macrocephaly, a long face with a prominent forehead and large ears. Postpubertal males can develop macro-orchidism. Similar to our patient, females affected with FXS may exhibit subtle dysmorphic features. As a result of random X inactivation and presence of FMR1 from the normal X chromosome, females with FXS may develop an attenuated phenotype ( 1 ). It may, thus, be challenging to suspect FXS in a girl solely based on clinical presentation.

Family history may provide important clues to the diagnosis of FXS. While the presence of >200 CGG repeats leads to FXS, patients with 55 to 200 repeats (‘premutation’) have a different clinical phenotype. Premutation carrier males often have mild cognitive deficits and may develop fragile X-associated tremor/ataxia syndrome (FXTAS), which is a Parkinson’s-like condition that presents with gait instability and postural tremors. Premutation carrier females may develop premature ovarian failure, anxiety and depression ( 2 ). The symptoms reported in the patient’s maternal grandfather and aunt were suspicious for FXTAS and premature ovarian failure, respectively. Taking a thorough history is vital to obtain these important clues, which may assist in evaluation and diagnosis.

Interventions, such as early developmental stimulation, physical therapy, occupational therapy, and speech and language therapy, are key to the management of children with FXS. Stimulants and anti-depressants can be prescribed for behavioural symptoms including hyperactivity, inattention and mood disturbances. Children with seizures should be treated with anticonvulsants. Targeted therapeutic options are currently being evaluated, including R-baclofen, which may have a role in decreasing seizures, improving autistic behaviours and decreasing social impairment ( 2 ). Families should be offered genetic counselling to determine the extent of the mutation and risk of transmission because there are implications for the diagnosis on seemingly unaffected family members.

In summary, FXS remains the most common cause of inherited intellectual disability and should be a part of the evaluation of any child with unexplained developmental delay. Our patient exhibited some of the physical characteristics of FXS, but the presence of pervasive features along with the intellectual disability and a strong family history favoured a diagnosis of FXS. It is important to consider FXS in girls presenting with intellectual disability because the clinical features may be more subtle compared with boys.

CLINICAL PEARLS

• FXS is the most common inherited cause of intellectual disability.
• Characteristic features of FXS include physical characteristics such as a long face, large ears and macro-orchidism (in postpubertal males), as well as autism, seizures and attention deficit hyperactivity disorder. Premutation carriers can present with FXTAS (males) and premature ovarian failure (females).
• FXS should be considered as a potential diagnosis in girls presenting with unexplained intellectual disability because other features of the disease may be less conspicuous.

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Home > Books > Learning Disabilities - Neurological Bases, Clinical Features and Strategies of Intervention

The Child with Learning Difficulties and His Writing: A Study of Case

Submitted: 30 May 2019 Reviewed: 16 August 2019 Published: 20 November 2019

DOI: 10.5772/intechopen.89194

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The purpose of this paper is to present one child with learning difficulties writing process in multigrade rural elementary school in México. It presents Alejandro’s case. This boy lives in a rural area. He shows special educational needs about learning. He never had specialized attention because he lives in a marginalized rural area. He was integrated into regular school, but he faced some learning difficulties. He was always considered as a student who did not learn. He has coursed 2 years of preschool and 1 year of elementary school. Therefore, this text describes how child writes a list of words with and without image as support. Analysis consists to identify the child’s conceptualizations about writing, his ways of approaching, and difficulties or mistakes he makes. The results show that Alejandro identifies letters and number by using pseudo-letters and conventional letter. These letters are in an unconventional position. There is no relationship grapheme and phoneme yet, and he uses different writing rules. We consider his mistakes as indicators of the learning process.

• writing difficulties
• learning difficulties
• writing learning
• writing process
• special education

Author Information

Edgardo domitilo gerardo morales *.

• Faculty of Philosophy and Letters, National Autonomous University of Mexico, México City, México

*Address all correspondence to: [email protected]

1. Introduction

One of the purposes of Mexican education system is that students acquire conventional writing during first grades in elementary school [ 1 ]. This purpose consists of students to understand the alphabetical code, its meaning, and functionality. In this way, they can integrate into a discursive community.

The elementary school teacher teaches a heterogeneous group of children [ 1 ,  2 ]. Some students show different acquisition levels of the writing. This is due to literacy environment that the family and society provide. Thus, some children have had great opportunities to interact with reading and writing practices than others. Therefore, some students do not learn the alphabetical principle of writing at the end of the scholar year. They show characteristics of initial or intermediate acquisition level of the writing. In this way, it is difficult for children to acquire writing at the same time, at the term indicated by educational system or teachers.

In addition, there may be children with learning difficulties in the classroom. Department of Special Education teaches some children. Students with special educational needs show more difficulties to learn than their classmates [ 3 ]. They require more resources to achieve the educational objectives. These authors point out that special educational needs are relative. These needs arise between students’ personal characteristics and their environment. Therefore, any child may have special educational needs, even if he/she does not have any physical disability. However, some students with learning difficulties do not have a complete assessment about their special educational needs. On the one hand, their school is far from urban areas; on the other hand, there are not enough teachers of special education for every school. In consequence, school teachers do not know their students’ educational needs and teach in the same way. Thereby, students with learning difficulties do not have the necessary support in the classroom.

Learning difficulties of writing may be identified easily. Children with special educational needs do not learn the alphabetical principle of writing easily; that is, they do not relate phoneme with grapheme. Therefore, children show their conceptualizations about writing in different ways. Sometimes, teachers censor their students’ written productions because they do not write in a conventional way. Children with special educational needs are stigmatized in the classroom. They are considered as less favored. At the end of the scholar year, children do not pass.

Therefore, the purpose of this paper is to present one child with special educational needs writing process in a Mexican multigrade rural school. This text describes how the child writes a list of words with and without image as support. Analysis consists to identify the child’s conceptualizations about writing [ 4 ], his ways of approaching, and difficulties or mistakes he makes. These mistakes are the indicators of learning process [ 5 ].

This paper presents Alejandro’s case. This boy lives in a rural area. He shows special educational needs about learning. He never had specialized attention because he lives in a marginalized rural area. He was integrated into regular school, but he faced some learning difficulties. He was always considered as a student who does not learn. Therefore, this text describes Alejandro’s writing, what he does after 2 years of preschool and 1 year of elementary school.

2. Children with learning difficulties and their diagnosis

According to the National Institute for the Evaluation of Education [ 6 ], Mexican education system provides basic education (preschool, elementary, and secondary school) for students with special educational needs. There are two types of special attention: Center of Multiple Attention (CAM, in Spanish) and Units of Service and Support to Regular Education (USAER, in Spanish). In the first one, children with special educational needs go to this Center. These children receive attention according to basic education and their educational needs. In the second, specialized teachers on special education go to school and provide support to students. These teachers provide information to school teachers too. In this way, there is educational equity and inclusion in Mexican school [ 7 ].

Physical appearance : Teacher describes the child’s physical characteristics. These features indicate the type of food the student eats, care his or her person, the parents’ attention, among other elements.

Behavior observed during the assessment : In this section, the teacher should record the conditions in which the assessment was carried out: child’s attitude, behavior, and interest.

Child’s development history : This section presents conditions in which pregnancy developed, physical development (ages in which child held his/her head, sat, crawled, walked, etc.), language development (verbal response to sounds and voices, age in which said his/her first words and phrases, etc.), family (characteristics of their family and social environment, frequent activities, etc.), hetero-family history (vision, hearing, etc.), medical history (health conditions, diseases, etc.), and scholar history (age at which he/she started school, type of school, difficulties, etc.).

Present condition : In this, there are four aspects:

It refers to student’s general aspects: intellectual area (information processing, attention, memory, understanding, etc.), motor development area (functional skills to move, take objects, position of his/her body, etc.), communicative-linguistic area (phonological, semantic, syntactic and pragmatic levels), adaptation and social interaction area (the child’s skills to initiate or maintain relationships with others), and emotional area (the way of perceiving the world and people). In each one, it mentions the instruments he suggests, although there is not enough information about them [ 3 ].

The second aspect is the curricular competence level. Teacher identifies what the student is capable of doing in relation to established purposes and contents by official curriculum.

The third aspect is about the learning style and motivation to learn. It presents physical-environmental conditions where the child works, their interests, level attention, strategies to solve a task, and the incentives he receives.

The fourth aspect is information about the student’s environment: factors of the school, family, and social context that influence the child’s learning.

Psycho-pedagogical assessment allows to identify children’s general educational needs. In this way, the school teacher could have information about the students’ difficulties. However, it is a general assessment. It contains several aspects and does not go deeper into one.

Therefore, this paper does not propose a new assessment. It consists of presenting one child’s writing difficulties, his ways of conceptualizing writing, and some mistakes he gets to make.

3. Students with learning difficulties and their scholar integration

Since 1993, Mexican system education has tried to offer special education services to students with special educational needs in basic education [ 8 ]. The first step was to promote the integration of these children in regular education classrooms. However, only insertion of the student in the school was achieved. Therefore, the system of education searched for mechanisms to provide advice to teacher. In this way, student with learning difficulties can be attended at the same time in the classroom [ 8 ].

Educational integration has been directly associated with attention of students with learning difficulties, with or without physical disabilities [ 8 ]. However, this process implies a change in the school. For this, it is necessary to provide information and to create awareness to the educational community, permanent updating of teachers, joint work between teacher, family, and specialized teachers.

At present, Mexican education system looks at educational integration as process in which every student with learning difficulties is supported individually [ 9 ]. Adapting the curriculum to the child is the purpose of educational integration.

Curricular adequacy is one of the actions to support students with learning difficulties [ 10 , 11 ]. This is an individualized curriculum proposal. Its purpose is to attend the students’ special educational needs [ 3 ]. At present, Mexican education system indicates that there should be a curricular flexibility to promote learning processes. However, it is important to consider what the child knows about particular knowledge.

Regarding the subject of the acquisition of written language, it is necessary to know how the children build their knowledge about written. It is not possible to make a curricular adequacy if teachers do not have enough information about their students. However, children are considered as knowledge builders. Therefore, there are learning difficulties at the process.

4. Alejandro’s case

This section presents Alejandro’s personal information. We met him when we visited to his school for other research purposes. We focused on him because the boy was silent in class. He was always in a corner of the work table and did not do the activities. For this, we talked with his teacher and his mother to know more about him.

Alejandro is a student of an elementary multigrade rural school. He was 7 years old at the time of the study. He was in the second grade of the elementary school. His school is located in the region of the “Great Mountains” of the state of Veracruz, Mexico. It is a rural area, marginalized. To get to this town from the municipal head, it is necessary to take a rural taxi for half an hour. Then, you have to walk on a dirt road for approximately 50 min.

Alejandro’s family is integrated by six people. He is the third of the four sons. He lives with his parents. His house is made of wood. His father works in the field: farming of corn, beans, and raising of sheep. His mother is a housewife and also works in the field. They have a low economic income. Therefore, they receive a scholarship. One of his older brothers also showed learning difficulties at school. His mother says both children have a learning problem. But, they do not have any money for attending their sons’ learning difficulties. In addition, there are no special institutes near their house.

The boy has always shown learning difficulties. He went to preschool for 2 years. However, he did not develop the necessary skills at this level. At classes, this child was silent, without speaking. Preschool teachers believed that he was mute. Nevertheless, at scholar recess, he talked with his classmates. Alejandro was slow to communicate with words in the classroom.

When he started elementary school, Alejandro continued to show learning difficulties. At classes, he was silent too. He just watched what his classmates did. He did not do anything in the class. He took his notebook out of his backpack and just made some lines. Occasionally, he talked with his classmates. When the teacher asked him something, Alejandro did not answer. He looked down and did not answer. He just ducked his head and stayed for several minutes.

When Alejandro was in second grade, he did different activities than his classmates. His teacher drew some drawings for him and he painted these drawings. Other occasions, the teacher wrote some letters for him to paint. The child did every exercise during several hours. He did not finish his exercises quickly. Sometimes he painted some drawings during 2 h.

Although Alejandro requires specialized attention, he has not received it. He has not had a full psycho-pedagogical assessment at school by specialized teachers. His school does not have these teachers. Also, the child was not submitted to neurological structural examination or neurophysiological studies to exclude an organic origin of his learning difficulties. His parents do not have enough financial resources to do this type of study for him. In addition, one specialized institution that can do this type of study for free is in Mexico City. It is so far from child’s house. It would be expensive for the child’s parents. Therefore, he is only attended as a regular school student.

For this reason, this paper is interested in the boy’s writing process. This is because Alejandro coursed 2 years of preschool and 1 year of elementary school; however, he does not show a conventional writing yet. In this way, it is interesting to analyze his conceptualizations about writing and difficulties he experiences.

5. Methodology

The purpose of this paper is to know the child’s ways to approach writing spontaneously and his knowledge about the writing system. For this, the author used a clinical interview. He took into account the research interview guide “Analysis of Disturbances in the Learning Process of Reading and Writing” [ 12 ].

The clinical interview was conducted individually. We explored four points, but we only present two in this text: to write words and to write for image.

Interviewer took the child to the library room at school. There were no other students. First, the interviewer gave the child a sheet and asked to write his name. Alejandro wrote his name during long time. Interviewer only asked what it says there. He answered his name: “Alejandro.” Next, the interviewer asked the child to write some letters and numbers he knew. Alejandro wrote them. The interviewer asked about every letter and number. The child answered “letter” or “number,” and its name.

To write words : The interviewer asked the child to write a group of words from the same semantic field in Spanish (because Alejandro is from Mexico) and one sentence. Order of words was from highest to lowest number of syllables. In this case, interviewer used semantic field of animals. Therefore, he used following words: GATO (cat), MARIPOSA (butterfly), CABALLO (horse), PERRO (dog), and PEZ (fish). The sentence was: EL GATO BEBE LECHE (The cat drinks milk). The interviewer questioned every written word. He asked the child to show with his finger how he says in every written production.

To write for image : This task was divided into two parts. The first analyzed the size and second analyzed the number.

Interviewer used the following image cards: horse-bird and giraffe-worm ( Figure 1 ). Every pair of cards represents a large animal and a small animal.

Cards with large and small animals.

The purpose of this first task was to explore how the child writes when he looks at two images of animals with different size. The animal names have three syllables in Spanish: CA-BA-LLO (horse), PA-JA-RO (bird), etc. In this way, we can see how the child writes.

The interviewer used the following pair of cards for second task ( Figure 2 ).

Cards for singular and plural.

First card shows one animal (singular) and the second shows some animals (plural). In this way, we search to explore how the child produces his writings when he observes one or more objects, if there are similarities or differences to write.

The interviewer asked what was in every card. Next, he asked the child to write something. Alejandro wrote something in every picture. Afterward, the interviewer asked the child to read every word that he wrote. Child pointed with his finger what he wrote.

After, the interview was transcribed for analysis. We read the transcription. The author analyzed every written production. He identified the child’s conceptualizations about writing. He compared the written production and what the child said. In this way, the analysis did not only consist to identify the level of writing development. This text describes the child’s writing, the ways in which he conceptualizes the writing, the difficulties he experienced to write, and his interpretations about writing.

6. Alejandro’s writing

This section describes Alejandro’s writing process. As we already mentioned, Alejandro is 7 years old and he studies in the second grade of the elementary school. His teacher says the child should have a conventional writing, because he has already coursed 1 year of elementary school, but it is not like that. Most of his classmates write a conventional way, but he does not.

We organized this section in three parts. The first part presents how Alejandro wrote his name and how he identifies letters and numbers; the second part refers to the writing of words; and the third part is writing for picture.

6.1 Alejandro writes his name and some letters and numbers

The first part of the task consisted of Alejandro writing his name and some letters and numbers he knows. His name was requested for two reasons. The first reason is to identify the sheet, because the interviewer interviewed other children in the same school. Also, it was necessary to identify every written productions of the group of students. The second reason was to observe the way he wrote his name and how he identified letters and numbers.

The interviewer asked the child to write his name at the top of the sheet. When the interviewer said the instructions, Alejandro was thoughtful during a long time. He was not pressed or interrupted. He did not do anything for several seconds. The child looked at the sheet and looked at everywhere. After time, he took the pencil and wrote the following on the sheet ( Figure 3 ).

Alejandro’s name.

The interviewer looked at Alejandro’s writing. He asked if something was lacking. The interviewer was sure that Alejandro knew his name and his writing was not complete. However, Alejandro was thoughtful, and looked at the sheet for a long time. The interviewer asked if his name was already complete. The child answered “no.” The interviewer asked the child if he remembered his name. Alejandro denied with his head. So, they continued with another task.

Alejandro has built the notion of his name. We believe that he has had some opportunities to write his name. Perhaps, his teacher has asked him to write his name on his notebooks, as part of scholar work in the classroom. We observed that Alejandro used letters with conventional sound value. This is because he wrote three initial letters of his name: ALJ (Alejandro). The first two letters correspond to the beginning of his name. Then, he omits “E” (ALE-), and writes “J” (ALJ). However, Alejandro mentions that he does not remember the others. This may show that he has memorized his name, but at that moment he failed to remember the others, or, these letters are what he remembers.

Subsequently, the interviewer asked Alejandro to write some letters and numbers he knew. The sequence was: a letter, a number, a letter, another letter, and number. In every Alejandro’ writing, the interviewer asked the child what he wrote. In this way, Alejandro wrote the following ( Figure 4 ).

Letters and numbers written by Alejandro.

For this task, Alejandro wrote for a long time. He did not hurry to write. He looked at sheet and wrote. The child looked at the interviewer, looked at the sheet again and after a few seconds he wrote. The interviewer asked about every letter or number.

We can observe that Alejandro differentiates between letter and number. He wrote correctly in every indication. That is, when the interviewer asked him to write a letter or number, he did so, respectively. In this way, Alejandro knows what he needs to write a word and what is not, what is for reading and what is not.

Also, we can observe that the child shows a limited repertoire of letters. He did not write consonants. He used only vowels: A (capital and lower) and E (lower). It shows us that he differentiates between capital and lower letter. Also, he identifies what vowels and letters are because the child answered which they were when the interviewer asked about them.

6.2 Writing words from the same semantic field

Asking the child to write words spontaneously is a way to know what he knows or has built about the writing system [ 12 ]. Although we know Alejandro presents learning difficulties and has not consolidated a conventional writing, it is necessary to ask him to write some words. This is for observing and analyzing what he is capable of writing, what knowledge he has built, as well as the difficulties he experiences.

The next picture presents what Alejandro wrote ( Figure 5 ). We wrote the conventional form in Spanish next to every word. We wrote these words in English in the parentheses too.

List of words written by Alejandro.

At the beginning of the interview, Alejandro did not want to do the task. He was silent for several seconds. He did not write anything. He looked at the sheet and the window. The interviewer insisted several times and suspended the recording to encourage the child to write. Alejandro mentioned he could not write, because he did not know the letters and so he would not do it. However, the interviewer insisted him. After several minutes, Alejandro took the pencil and started to write.

Alejandro wrote every word for 1 or 2 min. He required more seconds or minutes sometimes. He looked at the sheet and his around. He was in silence and looking at the sheet other times. We identified that he needs time to write. This shows that he feels insecure and does not know something for writing. He feels insecure because he was afraid of being wrong and that he was punished by the interviewer for it. It may be that in class he is penalized when he makes a mistake. There is ignorance because he does not know some letters, and he has a low repertoire of the writing system. Thus, Alejandro needs to think about writing and look for representing it. Therefore, this is why the child needs more time to write.

We identified that the child does not establish a phoneme-grapheme relationship. He only shows with his finger from left to right when he read every word. He does not establish a relationship with the letters he used. In each word, there is no correspondence with the number of letters. The child also does not establish a constant because there is variation in number and variety of letters sometimes.

Alejandro used letters unrelated to the conventional writing of the words. For example, when he wrote GATO (cat), Alejandro used the following letters: inpnAS. It is possible to identify that no letter corresponds to the word. Perhaps, Alejandro wrote those letters because they are recognized or remembered by him.

Alejandro shows a limited repertoire of conventional letters. This is observed when he uses four vowels: A, E, I, O. The child used these vowels less frequently. There is one vowel in every word at least. When Alejandro wrote PEZ (fish), he used two vowels. We observed that he writes these vowels at the beginning or end of the word. However, we do not know why he places them that way. Maybe this is a differentiating principle by him.

There is qualitative and quantitative differentiation in Alejandro’s writing. That is, he did not write any words in the same way. All the words written by him are different. Every word has different number and variety of letters. When two words contain the same number of letter, they contain different letters.

When Alejandro wrote MARIPOSA (butterfly), he used five letters. The number of letters is less than what he used for GATO (cat). Maybe he wrote that because the interviewer said “butterfly is a small animal.” This is because the cat is bigger than the butterfly. Therefore, it may be possible that he used lesser letters for butterfly.

In Spanish, PERRO (dog) contains five letters. Alejandro wrote five letters. In this case, Alejandro’s writing corresponds to the necessary number of letters. However, it seems that there is no writing rules for him. This is for two reasons: first, because there is no correspondence with the animal size. Horse is larger than dog and Alejandro required lesser letters for horse than for dog. Second, CABALLO (horse) is composed by three syllables and PERRO (dog) by two. Alejandro used more letters to represent two syllables. In addition, it is observed that there is a pseudo-letter. It looks like an inverted F, as well as D and B, horizontally.

When Alejandro wrote PEZ (fish), the interviewer first asked how many letters he needed to write that word. The child did not answer. Interviewer asked for this again and student said that he did not know. Then, interviewer said to write PEZ (fish). For several minutes, Alejandro just looked the sheet and did not say anything. The interviewer questioned several times, but he did not answer. After several minutes, Alejandro wrote: E. The interviewer asked the child if he has finished. He denied with his head. After 1 min, he started to write. We observed that his writing contains six letters. Capital letters are predominated.

Alejandro used inverted letters in three words. They may be considered as pseudo-letters. However, if we observe carefully they are similar to conventional letters. The child has written them in different positions: inverted.

May be there is a writing rule by Alejandro. His words have a minimum of four letters and a maximum of six letters. This rule has been established by him. There is no relation to the length of orality or the object it represents.

We can identify that Alejandro shows a primitive writing [ 4 ]. He is still in writing system learning process. The phoneticization process is not present yet. The child has not achieved this level yet. He only uses letters without a conventional sound value. There is no correspondence to phoneme-grapheme, and he uses pseudo-letters sometimes.

6.3 To write for image

Write for image allows us to know what happens when the child writes something in front of an image [ 12 ]. It is identified if there is the same rules used by the child, number of letters, or if there is any change when he writes a new word. It may happen that the length of the words is related to the size of the image or the number of objects presented. In this way, we can identify the child’s knowledge and difficulties when he writes some words.

6.3.1 The image size variable

The first task is about observing how the child writes when he is in front of two different sized images. That is, we want to identify if the image size influences on his writings. Therefore, two pairs of cards were presented to Alejandro. Every pair of cards contained two animals, one small and one large. The interviewer asked Alejandro to write the name on each one ( Figure 6 ).

Horse and bird writing.

Based on the writing produced by Alejandro, we mentioned the following:

Alejandro delimits his space to write. When he wrote for first pair of words, the child drew a wide rectangle and he made an oval and several squares for the second pair of words. The child wrote some letters to fill those drawn spaces. It seems that Alejandro’s rule is to fill the space and not only represent the word.

When Alejandro writes the words, we identified that he presents difficulty in the conventional directionality of writing. He wrote most of words from left to right (conventional directionality), but he wrote some words from right to left (no conventional). For example, the child started to write the second word on the left. He wrote seven letters. He looked at the sheet for some seconds. After, he continued to write other letters on the right. He wrote and completed the space he had left, from right to left.

Alejandro shows two ways to write: left–right (conventional) and right–left (no conventional). When he wrote the last word, the child wrote one letter under another. There was no limited space on the sheet. Alejandro wrote it there. The child has not learned the writing directionality.

When we compared Alejandro’s writings, we identified that the number of letters used by him does not correspond to the image size. Although the images were present and he looked them when he wrote, the child took into account other rules to write. The six names of animals had three syllables in Spanish and Alejandro used nine letters for CABALLO (horse) and eleven for PÁJARO (bird). The letters used by him are similar to the conventional ones. However, these are in different positions. There are no phonetic correspondences with the words. The child shows a primitive writing. Alejandro has not started the level of relation between phoneme and grapheme yet. We can believe that the boy wrote some letters to cover the space on the sheet. Alejandro takes into account the card size instead of the image size.

After writing a list of words, the interviewer asked Alejandro to read and point out every word he wrote. The purpose of this task is to observe how the child relates his writing to the sound length of the word. When Alejandro read CABALLO (horse), he pointed out as follows ( Figure 7 ).

Alejandro reads “caballo” (horse).

Alejandro reads every word and points out what he reads. In this way, he justifies what he has written. In the previous example, Alejandro reads the first syllable and points out the first letter, second syllable with the second letter. At this moment, he gets in conflict when he tries to read the third syllable. It would correspond to the third letter. However, “there are more letters than he needs.” When he reads the word, he shows the beginning of phoneticization: relation between one syllable with one letter. This is the syllabic writing principle [ 4 ]. Nevertheless, he has written more letters. Therefore, Alejandro says “o” in the other letters. In this way, we can point out that Alejandro justifies every letters and there is a correspondence between what he reads and what he writes.

When Alejandro reads the second word, the child pointed out as follows ( Figure 8 ).

Alejandro reads “pájaro” (bird).

Alejandro makes a different correspondence syllable-letter than the first word. Although his writing was in two ways, his reading is only one direction: from left to right. The first syllable is related to first three letters he wrote. The second syllable is related to the fourth letter. But, he faces the same problem as in the previous word: “there are many letters.” So he justifies the other letters as follows. He reads the third syllable in relation to the sixth and seventh letter. And, reads “o” for the other letters.

When interviewer showed the next pair of cards, Alejandro wrote as following ( Figure 9 ).

Giraffe and worm writing by Alejandro.

When the interviewer shows the pair of cards to Alejandro, the child said “It’s a zebra.” So, the interviewer said “It’s a giraffe and it’s a worm” and pointed out every card. The interviewer asked Alejandro to write the name of every animal. First, the child draws a rectangle across the width of the sheet. Next, he started to write on the left side inside the rectangle. He said the first syllable “JI” while writing the first letter. After, he said “ra,” he wrote a hyphen. Then, he said “e” and wrote another letter. At that moment, he looked at the sheet and filled the space he left with some letters ( Figure 10 ).

Giraffe writing.

Alejandro shows different rules of writing. These rules are not the same as previous. He delimited the space to write and filled the space with some letters. The child tries to relate the syllable with one letter, but he writes others. There is a limited repertoire of letters too. In this case, it seems that he used the same letters: C capital and lower letter, A capital and lower letter, and O. We believe that he uses hyphens to separate every letter. However, when he wrote the first hyphen, it reads the second syllable. We do not know why he reads there. Alejandro had tried to use conventional letters. He uses signs without sound value. In addition, there is no relation phoneme and grapheme.

When Alejandro wrote GUSANO (worm), he drew a rectangle and divided it into three small squares. Then, he drew other squares below the previous ones. After, he began to write some letters inside the squares, as seen in the following picture ( Figure 11 ).

Worm writing.

Alejandro used other rules to write. They are different than the previous. Alejandro has written one or two letters into every box. At the end, he writes some letters under the last box. There is no correspondence between what he reads and writes. There are also no fixed rules of writing for him. Rather, it is intuited that he draws the boxes to delimit his space to write.

6.3.2 Singular and plural writing

The next task consists to write singular and plural. For this, the interviewer showed Alejandro the following images ( Figure 12 ).

Cards with one cat and four cats.

Alejandro drew an oval for first card. This oval is on the left half of the sheet. He wrote the following ( Figure 13 ).

Alejandro writes GATO (cat).

Next, the interviewer asked Alejandro to write for the second card, in plural. For this, Alejandro draws another oval from the middle of the sheet, on the right side. The child did not do anything for 1 h 30 min. After this time, he wrote some different letters inside the oval ( Figure 14 ). He wrote from right to left (unconventional direction).

Alejandro writes GATOS (cats).

Alejandro wrote in the opposite conventional direction: from right to left. He tried to cover the delimited space by him. His letters are similar to the conventional ones. Also, there are differences between the first and the second word. He used lesser letters for first word than the second. That is, there are lesser letters for singular and more letters for plural. Perhaps, the child took into account the number of objects in the card.

The writing directionality may have been influenced by the image of the animals: cats look at the left side. Alejandro could have thought he was going to write from right to left, as well as images of the cards. Therefore, it is necessary to research how he writes when objects look at the right side. In this way, we can know if this influences the directionality of Alejandro’s writing.

With the next pair of images ( Figure 15 ), the interviewer asked Alejandro to write CONEJO (rabbit) and CONEJOS (rabbits).

Cards with one rabbit and three rabbits.

Alejandro draws a rectangle in the middle of the sheet for the first card (rabbit). He said “cone” (rab-) and wrote the first letter on the left of the sheet. Then, he said “jo” (bit) and wrote the second letter. He said “jo” again and wrote the third letter. He was thoughtful for some seconds. He started to write other letters. His writing is as follows ( Figure 16 ).

Alejandro writes CONEJO (rabbit).

At the beginning, Alejandro tries to relate the syllables of the word with first two letters. However, he justifies the other letters when he read the word. There is no exact correspondence between the syllable and the letter. As well as his writing is to fill the space he delimited.

Alejandro takes into account other rules for plural writing. He drew a rectangle across the width of the sheet. Starting on the left, he said “CO” and wrote one letter. Then, he said “NE” and drew a vertical line. After, he said “JO” and wrote other letters. His writing is as follows ( Figure 17 ).

Alejandro writes CONEJOS (rabbits).

Alejandro writes both words differently. He reads CONEJO (rabbit) for first word and CONEJOS (rabbits) for the second. Both words are different from each other. But, he wrote them with different rules. This is confusing for us because there are vertical lines between every two letters in the second word. We believe that the child tried to represent every object, although he did not explain it.

In summary, Alejandro shows different writings. He used pseudo-letters and conventional letter. These letters are in unconventional positions. There is no relationship between grapheme and phoneme yet; and, he uses different writing rules.

7. Conclusions

We described Alejandro’s writing process. According to this description, we can note the following:

Alejandro is a student of an elementary regular school. He presents learning difficulties. He could not write “correctly.” However, he did not have a full assessment by specialized teachers. His school is so far from urban areas and his parents could not take him to a special institution. Therefore, he has not received special support. Also, there is not a favorable literacy environment in his home. His teacher teaches him like his classmates. Usually, he has been marginalized and stigmatized because “he does not know or work in class.”

We focused on Alejandro because he was a child who was always distracted in class. We did not want to show his writing mistakes as negative aspects, but as part of his learning process. Errors are indicators of a process [ 5 ]. They inform the person’s skills. They allow to identify the knowledge that is being used [ 13 ]. In this way, errors can be considered as elements with a didactic value.

Alejandro showed some knowledge and also some difficulties to write. The child identifies and distinguishes letters and numbers. We do not know if he conceptualizes their use in every one. When he wrote, he shows his knowledge: letters are for reading, because he did not use any number in the words.

The writing directionality is a difficulty for Alejandro. He writes from left to right and also from right to left. We do not know why he did that. We did not research his reasons. But, it is important to know if there are any factors that influence the child to write like this.

The student does not establish a phoneme-grapheme relationship yet. He is still in an initial level to writing acquisition. He uses conventional letters and pseudo-letters to write. There are no fixed rules to write: number and variety of letters. However, we observed student’s thought about writing. He justifies his writings when he reads them and invents letters to represent some words.

There is still a limited repertoire of letters. He used a few letters of the alphabet. Therefore, Alejandro needs to interact with different texts, rather than teaching him letter by letter. Even if “he does not know those letters.” In this way, he is going to appropriate other elements and resources of the writing system.

Time he takes to write is an important element for us. He refused to write for several minutes at the beginning. After, he wrote during 1 or 2 min every word. As we mentioned previously, we believe that Alejandro did not feel sure to do the task. Perhaps, he thought that the interviewer is going to penalize for his writing “incorrectly.” He felt unable to write. Therefore, it is important that children’s mistakes are not censored in the classroom. Mistakes let us to know the child’s knowledge and their learning needs.

We considered that class work was not favorable for Alejandro. He painted letters, drawings, among others. These were to keep him busy. Therefore, it is important for the child to participate in reading and writing practices. In this way, he can be integrated into the scholar activities and is not segregated by his classmates.

About children with learning difficulties, it is important that these children write as they believe. Do not censor their writings. They are not considered as people incapable. It is necessary to consider that learning is a slow process. Those children will require more time than their classmates.

Special education plays an important role in Mexico. However, rather than attending to the student with learning difficulties in isolation, it is necessary that the teacher should be provided with information and the presence of specialized teachers in the classroom. In this way, the student with learning difficulties can be integrated into class, scholar activities, and reading and writing practices.

We presented Alejandro’s writing process in this paper. Although he was considered as a child with learning difficulties, we identified he shows some difficulties, but he knows some elements of the writing system too.

Acknowledgments

I thank Alejandro, his parents, and his teacher for the information they provided to me about him.

Conflict of interest

The authors declare no conflict of interest.

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© 2019 The Author(s). Licensee IntechOpen. This chapter is distributed under the terms of the Creative Commons Attribution 3.0 License , which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Child with intellectual disability misdiagnosed as autism: A case study

Affiliation.

• 1 Institute of Clinical Psychology, University of Management and Technology, Lahore, Pakistan.
• PMID: 34418034
• DOI: 10.47391/JPMA.365

Misdiagnosis has become a public health crisis and it is unavoidable in all health care systems. This case study is about a nine year old boy, referred by the special school teacher presenting with the complaints of Autism and slow learning. Contrary to his complaints, the developmental assessment showed that the child had no symptoms of Autism, whereas moderate symptoms of Intellectual Disability were made known. The brief therapeutic plan focused on enhancing his functional level of adaptive behaviour. This case report holds its implication to drift attention of stakeholders working in different health care systems towards the issue of misdiagnosis.

Keywords: Misdiagnosis, Autism, Intellectual Disability..

Publication types

• Case Reports
• Adaptation, Psychological
• Autistic Disorder* / diagnosis
• Diagnostic Errors
• Intellectual Disability* / diagnosis

Case study on the effects of a disability inclusive mindset in a large biotechnology company

Journal of Work-Applied Management

ISSN : 2205-2062

Article publication date: 3 September 2021

Issue publication date: 5 April 2022

Employers increasingly seek a competitive advantage through inclusive hiring practices and recruitment of persons with disabilities. Early research indicates when employers consider individuals for their strengths rather than solely for their needs, the organization prospers. However, details about how companies pursue a disability inclusive workplace and the effect of those efforts are poorly understood.

Design/methodology/approach

An inductive qualitative case study approach was utilized to understand one biotechnology corporation and their approach to recruiting, hiring, and retaining employees with disabilities. Individual and focus group interviews were conducted.

Results suggest that when the company lives its mission around wellness and inclusivity, they benefit from working with and learning from a range of perspectives, furthering their growth. Placing equal emphasis on hiring a diverse workforce and prioritizing supports and wellness practices lead to greater productivity and innovation.

Practical implications

This study illustrates how one company successfully recruits and hires persons with disabilities, resulting in benefits to their financial bottom line and to the organizational culture.

Originality/value

This paper offers insights for other companies intentionally hiring persons with disabilities, providing accommodations in the workplace, and creating an organizational culture where all employees feel valued and supported. These steps have a direct impact on employee engagement, productivity, and retention.

• Diversity initiative
• Inclusivity
• Recruitment
• Employees with disabilities

Ochrach, C. , Thomas, K. , Phillips, B. , Mpofu, N. , Tansey, T. and Castillo, S. (2022), "Case study on the effects of a disability inclusive mindset in a large biotechnology company", Journal of Work-Applied Management , Vol. 14 No. 1, pp. 113-125. https://doi.org/10.1108/JWAM-06-2021-0045

Emerald Publishing Limited

Copyright © 2021, Chase Ochrach, Kathryn Thomas, Brian Phillips, Ngonidzashe Mpofu, Tim Tansey and Stacie Castillo

Published in Journal of Work-Applied Management . Published by Emerald Publishing Limited. This article is published under the Creative Commons Attribution (CC BY 4.0) licence. Anyone may reproduce, distribute, translate and create derivative works of this article (for both commercial and non-commercial purposes), subject to full attribution to the original publication and authors. The full terms of this licence may be seen at http://creativecommons.org/licences/by/4.0/legalcode

Introduction

Employers increasingly recognize the benefits to productivity and organizational culture resulting from hiring persons with disabilities (PWDs) ( Lindsay et al. , 2018 ). Approximately 26% of people in the United States live with one or more of six functional types of disability, including cognitive, hearing, mobility, vision, self-care or independent living-related ( Centers for Disease Control and Prevention, 2018 ). Representing just over 25% of the US population, PWDs compose a large and valuable pool of current and potential members of the US workforce. However, PWDs continue to face challenges finding gainful employment in the United States, such that PWDs have an unemployment rate more than twice that of people without a disability ( US Bureau of Labor Statistics, 2020 ).

This lack of representation signals a significant problem of missed opportunity, as disability-inclusive hiring practices have been associated with improved productivity at the employee and organizational level ( Tompa et al. , 2021 ). One potential method of increasing rates of employment for PWDs is by increasing companies' awareness of the how much PWDs can contribute to the workforce, particularly in companies that maintain a disability-inclusive mindset ( Lindsay et al. , 2018 ). Companies with a disability-inclusive mindset go beyond maintaining the minimum legal requirement of anti-discrimination laws to create a disability-inclusive culture in all their thinking, policies, and operations. Such companies proactively focus on making the necessary changes needed to identify and remove barriers to full workplace participation for PWDs, including the removal of physical, communication, and attitudinal barriers ( CDC, 2020 ). This kind of mindset is represented by the concept of customized employment, which encourages organizations to customize the relationship between employee and employer based on the individual strengths and needs of both parties ( Inge, 2006 ). Despite several studies demonstrating the benefits of an inclusive culture and workforce at the individual, organizational, and societal level ( Tompa et al. , 2021 ) a specific roadmap for implementing this type of corporate culture remains elusive.

According to Weick's (1979 ) organizational information theory, people in organizations play active roles as creators of their environment through interpretation of information on a systemic level. Specifically, Weick (1979) emphasized the importance a company engaging in ongoing sensemaking, which is the process of rendering meaning from experience and constructing order out of disorder ( Patriotta, 2016 ). Within a company, sensemaking is a reciprocal relationship, such that individuals both create and are influenced by their organizational environment ( Weick, 1979 ). By focusing on communication from both top-down and bottom-up perspectives within a company, sensemaking provides a method of promoting disability-inclusive mindsets through centralized communication and information processing within a company ( Glynn and Watkiss, 2020 ; Weick, 1979 ). Weick conceptualizes sensemaking as central to organizing around a common mission and goal ( Weick, 2005 ). This theory is utilized in the current study by highlighting how a common organizational mission can allow employees across departments to make sense of their role in the company and of the company's role in the community. By engaging in the sensemaking process, leaders of companies can create a disability-inclusive mindset that influences the company culture on all levels to remove barriers and promote inclusive policy and culture for the hiring and retention of PWDs. Weick's theory applies to this case in that the way the organization and its members make sense and meaning of their work through identifying with the organization's inclusive mission and commitment to diversity. Previous studies have applied Weick's theory to various aspects of organization and management ( Tsoukas et al. , 2020 ), including process research ( Langley et al. , 2013 ) and organizational cognition ( Eden and Spender, 1998 ), among others. We extend findings from these and other previous studies to understand how sensemaking as a process furthers mission-based practices centered on diversity and inclusion.

Companies are increasingly moving to appreciate disability inclusion as a valuable contributor to diversity in the workplace ( Gilbride, et al. , 2003 ; Padkapayeva et al. , 2017 ). Research has revealed that companies identify several benefits to employing PWDs, including an expanded hiring pool, positive psychosocial impacts of retention of PWDs on employees with or without disabilities, and increased diversity of the workplace ( CDC, 2020 ; Lindsay et al. , 2018 ). By modifying recruitment and retention strategies, developing disability inclusion mediations, personalizing workplace and workspace modifications for PWDs, and matching the needs and skills of PWDs with the needs of the company, company leadership and human resources (HR) professionals can create disability inclusive mindsets by creating positive social attitudes regarding hiring PWDs ( Gilbride et al. , 2003 ; Padkapayeva et al. , 2017 ).

Research has also suggested that employee job fit, company culture, and previous employer experience with hiring PWDs all increase recruitment and retention of PWDs, which in turn shapes future HR hiring practices and the assumption of inclusive attitudes and perspectives company-wide ( Gilbride et al. , 2003 ). This aligns with findings that companies that reflect on their own practices, learn from their past organizational choices, and adapt to the internal and external environment are more sustainable in the long-term ( Fam et al. , 2017 ; Fergusson et al. , 2020 ). Additionally, HR employees with a higher degree of social awareness can increase the pace at which PWDs are recruited as well as the pace at which exposure-based disability-inclusive mindsets are encouraged in the workplace ( Chan et al. , 2010 ). This is especially important considering the growing centrality of social consciousness in what attracts new employees to work for organizations, underscoring the overall sustainability of that organization ( Brockhaus et al. , 2017 ; Rimanoczy and Pearson, 2010 ). Employing PWDs tends to decrease employer misconceptions, such as the idea that PWDs are not seeking work or are not qualified for company positions ( Bonaccio et al., 2020 ). Employing PWDs has been shown to increase future hiring and retention of job applicants with disabilities resulting in increased integration of workers with disabilities, development of disability-inclusive workplaces, and more sustainable futures for employees and organizations ( Bonaccio et al. , 2020 ; Fergusson et al. , 2020 ). These and other recent studies illustrate the unique benefits to hiring persons with disabilities, yet few offer a specific roadmap for how to actively recruit and hire PWDs and provide individualized accommodations to allow them, and the organization as a whole, to be successful. The current paper attempts to offer tangible suggestions through the illustration of one mid-sized company's successful implementation of a disability-inclusive mission and practices.

This paper is structured as follows. The first section outlines the methods used in this study, which is an inductive case study of one company's approach to hiring and retainment of PWDs. The organization and its specific subdivisions involved in the recruitment, hiring, and retainment of PWDs are described. The results of the study are then outlined, highlighting the company's mission and values, the actual inclusivity practices employed, and the impacts of these practices. The next section of the paper discusses the main findings of the study and connects those findings to existing research on PWDs in the workplace and general organizational culture. In this study, it was found that recruiting, hiring, and supporting PWDs in the workplace resulted in more workplace diversity, a willingness to provide accommodations for all employees, positive corporate climate, and increased productivity. Thus, this paper contributes evidence in support of the positive impacts of initiatives for hiring PWDs on employees, including PWDs, as well as the organization as a whole.

The purpose of this study was to implement an in-depth case study of a biotechnology company that has expressed commitment to inclusive hiring and retainment and a clear recognition of the company-wide benefits of hiring PWDs. We hoped to understand more about the company's mission and values and how these values translate into policy and action that supports hiring, retaining, and supporting all employees, including PWDs. This study was guided by the following questions: (1) What are the overarching attitudes, values, and approaches taken by this company in their efforts to be inclusive and diverse? And, (2) How does this company extend their message of wellbeing and support throughout all levels and departments of the company?

Given the formative nature of this investigation, we used a qualitative case study design that allowed for exploration of events or phenomena from multiple sources, with the purpose of looking into the unique experience of the people's lives and interactions with the environment ( Corbin and Strauss, 2015 ). This inductive qualitative design allowed for an open evaluation of the complexities and considerations involved in recruiting, hiring, supporting and retaining PWDs through in-depth interviews with multiple staff members at different levels within the company ( Maxwell, 1996 ). Interviews and focus groups were utilized to gain an open, in-depth understanding of employees' beliefs and experiences which was essential to informing our qualitative inquiry ( Gill et al. , 2008 ). As this investigation is exploratory in nature and our aim is to place greatest emphasis on the voices of our participants, a qualitative approach was necessary ( Miles and Huberman, 1994 ). The research team involved in data collection and analysis was comprised of six rehabilitation psychology faculty and doctoral students across three universities in the United States. Team members discussed potential biases prior to engaging in data collection and again before completing the analysis to reduce the potential for biases to influence the results.

Organization

The subject of this study is a large biotechnology company centralized in the Midwest. This company has been recognized as a Great Place to Work-Certified™ company, meaning they have been independently evaluated by the third party and recognized for having a positive workplace culture.

Organizational structure

This biotechnology company was described as using a Matrix Organization style where managerial teams spanned different units within the company ( Galbraith, 1971 ). The HR director noted this as key to maintaining priority on employee retention across all units. Part of the company's success in supporting and accommodating their employees was attributed to the division of responsibility within the company. Rather than processing all accommodations requests through a general HR team, their approach involved multiple specialized teams working together to recruit and retain employees. These included teams focused on (1) Recruitment, (2) Wellness, (3) Leaves and Accommodations, (4) Business Partners, and until recently (5) Security, which aligned under another unit in the organization.

The Leaves and Accommodations team has a lead role in processing accommodation requests while also ensuring that all employees and teams are aware of the potential for accommodations and how to use them. As one employee described, “I did not know until I received that initial email that we do have the entire accommodations team. They can reach out if you need anything.” The Business Partners act as the HR representatives across each unit in the company (e.g., the clinical lab). Business Partners were said by the HR director to play a key role in informing the HR team of needs within a particular unit while also ensuring that the company culture, priorities, and values extends to each unit. The Security team, although no longer part of HR, continue to fill several roles in the company, including acting as first responder for physical and mental health needs. These teams do not want the onus to always be on employees but seek to preemptively act in providing support by assessing potential problems within the company's various departments and teams.

Researchers worked with state employment agencies to identify companies with a reputation for inclusive disability hiring. Once identified as a company of interest, the research team worked closely with leadership from the biotechnology company to organize a site visit and to conduct interviews and focus groups. Prior to the site visit, the research team requested access to any written information, forms, or documents relevant to their disability efforts (e.g., company policies). Key personnel were also asked to provide a few written answers regarding the implementation of practices and policies related to their disability initiative. These were reviewed by the research team prior to the site visit in order to allow for better understanding of company activities prior to conducting interviews and focus groups. Researchers met on the day of the site visit to discuss potential biases and strategize how these biases could be minimized. The present study consisted of interviews with the director of human resources (HR) as well as members of the teams responsible for recruiting and for providing accommodations. A focus group was held with four direct-line supervisors and another with seven current employees, some of whom identified as having a disability that significantly impacted their work. All interviews were conducted in person at the company headquarters in the Midwest. Interviews and focus groups were complimented by information obtained through on-site observation, company policies and other written materials, the company website, and a climate survey described in the measures section below. A tour of the facility with an emphasis on any disability-related environmental adjustments, modifications, or supports helped inform data collection and analysis. The interviews and site tour led to the collection of more written policies and procedures that were added to the materials for analysis.

Focus groups and interviews ranged from 20 to 90 min in length. All interviews and focus groups were completed with two members of the research team present, serving to reduce to the possibility of interviewer bias while also enriching the data collection process with multiple perspectives. Audio recordings of all interviews and focus groups were later transcribed for analysis. Approval from the university's Institutional Review Board was also obtained to conduct this study with human subjects, and informed consent was obtained from all participants.

In addition to the on-site observations of the research team, a climate and policy checklist was used to assess the different disability-related aspects of the company during the post-site visit analysis of data. This checklist consisted of 70 disability-related policies or practices that were marked as being present or not present in the company. The semi-structured interviews and focus groups conducted on-site included primarily open-ended questions addressing the recruitment, hiring, integrating, and retaining workers with disabilities. The interviewees were asked to reflect on the company's practices and policies that were intended to create an inclusive environment for workers with disabilities and the results of these efforts.

Data analysis

All data sources were reviewed and coded by two coders before coming to consensus on the major themes and insights. Interview and focus group transcripts were read by each coder initially and data were categorized into practical and mindset themes. Further categories were determined by grouping data into subthemes, including a focus on inclusive practice, supportive climate, emphasis on retainment, and being mission driven. In the event of a disagreement between two coders, a third coder was included to discuss the item until an agreement was reached. Once created, the coding and narrative of the case study were brought to the larger research team for a community-based approach to refining and improving the accuracy of the case study.

This case study focuses on the inclusive hiring and retention practices of a large biotechnology company and the perceived impact of these efforts. In contrast to many other disability diversity case studies, this was not focused on a disability program but rather on capturing a company culture focused on seeking to make disability inclusivity part of all that they do. Results emerged from data collected over several months of 2019 and include analysis across individual and group interviews as well as on-site observation, the climate survey, and written policies (e.g. employee handbook, Autism Workforce guide). Results are broken down into the following categories: (1) Company Mission and Mindset, (2) Disability Inclusive Practices, which include both hiring and retention practices, and (3) Impact of Inclusive Practices. We proceed with a review of each category and their domains.

Company Mission and Mindset

An overarching theme noted throughout the interviews, whether senior management or recent hire to work in the lab, was the sense of the company's value-driven mission. An internal document describing the company Wellness program provided a Vision Statement that captures the ethos of their mission: “We believe our employees are our most valuable resource and through educating and encouraging the health and well-being of our employees, we in turn can achieve a higher level of patient care.” Throughout every interview and every evaluation of the company's organizational documentation and structure, this mission-driven focus emerged. As a member of the Leaves and Accommodations team stated, “We live our mission statement here, whereas other companies have a mission statement. And it's getting everyone on board from top down to have an environment of support.” Multiple members of the management team noted that this sense of mission did not happen by accident or stem from policy alone but was the result of embedding themselves within departments and consistently communicating those core values. Of their role, one manager stated, “We're out there being that kind of culture keeper.”

The first question a lot of companies will ask is, “Are we legally required to do this?” Which is a fine question. It's a valid question because you want to make sure that you're doing everything legally. But I feel like [company's] first question, because we already know we're in legal compliance across the board for Leaves and Accommodations is, “Why not?” and “What can we do?”

I think it starts with that commitment that we want to be an inclusive workforce, but you cannot always anticipate what that is going to mean for the next person who walks through your door. I think if you're coming at it with that yes mindset … You know if you start there, you can usually find a way to make it work.

You're not asking all of your employees to fit one exact requirement, once you're thinking, “What do they need?” and “How do they learn?” … just the mindset of how to help them be successful here, “What does that mean for them?” That's a real shift from, “I'm the boss, and this is how it works here.”

Disability Inclusive Practices

The mission and mindset of the company produced a number of inclusive practices that could be categorized into hiring, retention or some combination of the two.

Inclusive hiring practices

The director of HR spoke to the company's consideration of community in shaping their hiring practices and performance saying, “We look for partnerships with different organizations, both because we want to be a good partner and because of the organization's being really good conduits for people looking for work.” Another manager emphasized the importance they place on partnering with specific government and non-profit agencies aimed at improving the education and employment of diverse members of the local community and organizations in the area.

Speaking to the inclusive mindset that fuels this biotechnology company, an HR manager spoke of how they work with applicants saying, “whether there's a disability or not, our team approaches these interviews with the same level of fairness and equality. And I think that's become just part of the [company's] DNA.” Part of this DNA, or inclusive mindset, was noted to stem from their resources to work with a diverse workforce. The HR manager continued by saying applicants with disabilities “do not even phase our hiring team now because we are so used to the support we get from our Leaves and Accommodation team.”

Inclusive retention practices

The emphasis on retaining employees was consistent across all collected information. Multiple HR management spoke of viewing employees as being in long-term careers when hiring on with the company. Employees seem to get the message with one stating, “We heard management talk about wanting to create careers,” in contrast to what the employee described experiencing in other companies as being used for a couple of years. Two methods employed for fostering this career mentality were supporting employees in pursuit of upward movement and facilitating employee engagement within the company. Leadership emphasized providing employees with what they need to be successful, including a change in position or environment when needed. An HR director reported the mutual benefit of this approach by saying, “I am a firm believer that culture and engagement of employees has a very positive effect on revenue, on your total growth as an organization. If we were constantly replacing people, that would be a big time and money sinkhole.” He concluded that recruiting for diversity and then “giving them the tools and the support to really be successful” benefits all.

Inclusive retention practices were often very individually based. One frontline supervisor said, “I do not have any accommodation that's exactly like the other. The [Leaves and Accommodation Team] really tailor to the individual.” A member of the Recruitment team emphasized the importance of getting the employee's perspective when addressing accommodation needs stating, “It might not be something that our team is familiar with, but we get familiar with it really quickly.”

creating a welcoming environment and teaching people what it’s like to work here … The first step is really that inclusive culture of teaching and recognizing that people are coming from different places and at different levels of their readiness in order to actually hit the floor for their job.

Regarding supervisor training, an HR director described the Family and Medical Leave Act (FMLA) and ADA training they provide to supervisors, with the comment that “We do not ask [supervisors] to understand all of the intricacies of it. What we do want them to understand through the training is to be receptive.” Multiple supervisors described the trainings with appreciation for their thoroughness and for the support that was available to them, as captured by the supervisor who stated, “There's [a training] for the inclusive workplace, which is wonderful training.” This supervisor continued, “The fact that they even do that is impressive to me.” It was noted across interviews that providing the trainings in multiple formats (audio-video, written, etc.) was appreciated by supervisors and employees with disabilities alike.

The company was noted for taking a proactive approach to accommodations as part of their retention efforts. One employee shared his experience saying, “Because I identified with a disability through the onboarding process, probably within a week or two from hire, I got an email saying, “Hey, you identified with a disability. Are there any accommodations that we can provide?” Another employee described their supervisor's approach to accommodations after having already been with the company, reporting, “When I started in the lab, I never knew how physical that was. It was actually my supervisor that pulled me aside and said, ‘You know, we have accommodations and we can help you through this.’”

Inclusivity as organizational identity: impact of Inclusive Practices

I would absolutely say that it’s a benefit … By recruiting a diverse population and then giving them the tools and the support to really be successful, that goes a really long way towards engagement and culture, and that certainly has direct impact on the bottom line.

Another manager talked of how providing employee accommodations according to their need improved performance and retention. A front-line supervisor spoke of an employee who was about to be terminated for poor performance. In one of the final meetings before termination, the employee disclosed a hidden disability that had been affecting their work performance. Accommodations were put in place and the employee retained their position through strong performance.

Through working with [PWDs], we've found some of the things that we offer would actually be good to offer to a broader population as well. If we are looking at different ways of learning, different ways of training, for instance, even if somebody has not self-identified as having a disability, we all learn differently … Personally, I think that it gives you a more open mindset, things that I had not considered before.

I think there's an effect on morale … We get a lot of really positive feedback about the diversity of our team. A lot of people who choose to work at [company], I find that a big driver behind their decision to work here is because they have a personal connection to our mission. They feel good about working for a company that offers these accommodations for their colleagues and coworkers. They can see people of different abilities working in different ways towards the same mission.

These positive perceptions often connected directly to job satisfaction and a desire to stay with the company. A front-line supervisor said, “I think it helps us retain the employees who truly want to be here … and helps us keep really talented people.” One employee with a disability stated that she is quick to tell her friends and acquaintances to work at this company. She continued, “If you're looking to improve your life, apply.” More seriously, another employee with a disability described being made fun of at her previous company and how refreshing it was to be able to trust that she would be treated respectfully at this biotechnology company. One of the strongest statements on the retention efforts of the company came from an employee who talked of switching from his partner's health insurance for the first time in years because of the stability he felt in his work. He stated with a tone of pride, “I'm actually going to be taking over the insurance because I feel comfortable here.”

Workplace challenges faced by PWDs result from the intersection of individual needs, societal structures, and employer initiatives, policies, and procedures that influence company culture ( Chan et al. , 2010 ). One way to minimize workplace experiences of discrimination and invalidation for PWDs is for companies to actively value diversity and inclusivity in mission, mindset, and policies through organizational sensemaking. By engaging in ongoing sensemaking, companies can allow for individuals to promote disability-inclusive mindsets by both creating and influencing their organizational environment ( Weick, 1979 ; Glynn and Watkiss, 2020 ). The company at the center of this study specifically organizes their work around the central mission of disability-inclusivity and overarching support and accommodations for all—a common mission through which, as was shared in interviews, employees make meaning of their work. As meaning-making is a human-driven process, this study illuminates how Weick's theory of organizational information can explain the practical implications of organizing a corporate culture around a common goal ( Tsoukas et al. , 2020 ). This approach recognizes PWDs as assets as companies provide them with the supports needed to be successful. Such efforts uplift the individual employee and the company-wide productivity and culture ( Lindsay et al. , 2018 ). This company offers a useful model for other companies looking to implement a disability-inclusive approach that values the contributions of all employees.

Organizational culture as a reciprocal process

Interview participants made it clear that this company values a sense of connectedness and reciprocal respect among team members. Weick (1979) suggests that organizations and those belonging to them experience a reciprocal relationship—that is, individuals both create and are influenced by their organizational environment through the process of sensemaking. This proposition suggests that general organizational attitudes (such as prioritizing inclusivity and diversity in the workplace) must be fed through both top-down and bottom-up pathways. Weick further suggests that the way members of an organization make sense of experiences informs organizational action in a recursive process. This sensemaking process is often equally cognitive and emotional ( Mikkelsen et al. , 2020 ) and can stretch from broad, company-wide search for meaning to the minutiae of even the language used by an organization ( Bakken and Hernes, 2006 ).

Using this framework, the company at the center of this study appears to make opportunistic sense of diversity, seeing PWDs as introducing unique skills, perspectives and talents to the company. This sensemaking process is likely driven both by a recognition of the overall productivity and economic benefits as well as employees' emotional investment in the value of working alongside and learning from diverse team members. The development of an organizational culture and mission is more recursive than linear where both meaning and action influence sensemaking and contribute to the ultimate climate ( Glynn and Watkiss, 2020 ). The company as a whole and the individual employees reciprocally influence each other in terms of company values, productivity, and inclusive culture. This organization clearly benefits from such symbolic interactionism, as interviews with employees and management revealed an unequivocal emphasis placed on supporting and being supported by employees with disabilities.

Dedication to morale and community

Staff and leaders both reported a felt sense of community and a dedication to elevating morale throughout this company. It seems that promoting a sense of connectedness and support fosters positive attitudes, productivity, and customer service for this mid-sized organization. Some researchers suggest that leaders can improve productivity, employee relations, and talent development when they align their actions with valuing a diverse workforce ( Hughes, 2016 ). Thus, fostering acceptance, support, and growth for diverse employees is fundamental to prosperous relationships internally and externally for the organization.

Previous findings suggest that high levels of cohesion among members of a group may predict performance ( Gammage et al. , 2001 ). Additional research suggests when a group agrees on the same organizational goals, they subsequently experience higher rates of group drive, cohesion, and productivity ( Greene, 1989 ). This is apparent in the current case, as interview participants reported feeling the congruence with the company goals of commitment to customer service and valuing and supporting team members.

How to replicate elsewhere

It's deciding as a company, “Are you going to be willing to go that much further for the employee to go above and beyond what the federal government is asking you to do?” But it is completely replicable if you desire that for your company.

I think it starts with that commitment to be an inclusive workforce … But you cannot always anticipate what that is going to mean (The next person who walks through your door, what might they need to be successful?). It is not necessarily something that I think every organization wants to do.

The HR director also encouraged companies to think about their employees in terms of their unique value rather than their ability to fit the model of the organizations' values. Overall, this biotechnology company's employees and administrators seemed optimistic about the possibility of their model, philosophy, and approach to hiring and recruitment to be replicated elsewhere. This approach becomes possible through a stance of curiosity, a willingness to learn, and approaching each potential employee as having a unique skillset and worldview.

Conclusions and implications

Intentionally recruiting, hiring, and retaining PWDs in the workplace increases the diversity of perspectives in the workplace and positively impacts the company bottom line;

Successful outcomes from a company-wide diversity and inclusivity initiative results from both top-down and bottom-up implementational commitment; and

Increasing corporate diversity through this kind of initiative has a positive effect on employee attitudes and engagement and the overall corporate climate.

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Acknowledgements

Preparation of this manuscript was supported in part by the National Institute on Disability, Independent Living, and Rehabilitation Research through Grant # HHS-2016-ACL-NIDILRR-RT-0138 to Virginia Commonwealth University, Rehabilitation Research and Training Center on Employer Practices. The opinions expressed herein do not necessarily reflect the endorsement or position of the U.S. Department of Health and Human Services.

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Disability as Diversity

A Case Studies Companion Guide

• © 2021
• Leslie Neal-Boylan 0 ,
• Lisa M. Meeks   ORCID: https://orcid.org/0000-0002-3647-3657 1

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Department of Family Medicine, University of Michigan Medical School, Ann Arbor, USA

• The information is critically needed, as this is a first-of-its kind publication
• Case studies are connected to case law and OCR decisions for health science programs
• Applicable across healthcare professions

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Table of contents (15 chapters)

Front matter, medical student cases, the student with a learning disability: clarissa connors, a medical student with undiagnosed adhd and a learning disability.

• Kristina H. Petersen, Stacy C. Jones, Lisa M. Meeks

The Student with a Physical Disability: Tammy Thomas, a Clinical Year Medical Student with Quadriplegia

• Christopher D. Connolly, Maya M. Hammoud, Charlotte H. O’Connor

The Student with a Sensory Disability: Conrad Barker, a Rising Third-Year Medical Student with Hearing Loss

• Michael S. Argenyi, Alicia Booth, Christine Low

The Student with a Psychological Disability: Rhonda Rapp, a Fourth-Year Medical Student with Depression and PTSD

• Lisa M. Meeks, Hilit F. Mechaber, Samantha Schroth, Rahael Gupta, Joseph F. Murray

The Student with a Chronic Health Condition: Hillary Hampton, a Second-Year Medical Student with Crohn’s Disease

• Nichole L. Taylor, Charlotte H. O’Connor

The Student with Cancer: Marc Fernandez, a Fourth-Year Medical Student with Cancer

• Nichole L. Taylor, Catherine Moore, Suzanne Hawks

Nursing Student Cases

The student with a learning disability: mee sook smith, a nursing student with a learning disability in an associate degree program.

• Leslie Neal-Boylan, Patricia Lussier-Duynstee, Christine Low

The Student with a Learning Disability: Maxwell Mason, a Nursing Student with a Learning Disability in a Baccalaureate Degree Program

• Patricia Lussier-Duynstee, Charlotte H. O’Connor, Leslie Neal-Boylan

The Student with a Physical Disability: Sam Stone, a Nursing Student with a Missing Limb

• Leslie Neal-Boylan, Patricia Lussier-Duynstee, Jan Serrantino-Cox

The Student with a Sensory Disability: Anna Howard, a Deaf Nursing Student

• Stacey M. Carroll, Carrie Morgan Eaton, Marie Lusk

The Student with a Psychological Disability: Melanie Mathews, a Nursing Student with Suicidal Ideation

• Leslie Neal-Boylan, Michelle D. Miller, Jan Serrantino-Cox

The Student with a Chronic Health Condition: Susan Nacht, a Nursing Student with Narcolepsy

• Sharron E. Guillett, Elizabeth Kane

Focused Topic Cases

The student using medical marijuana.

• Leslie Neal-Boylan, Charlotte H. O’Connor

The Student Who Brings an Animal to Class

• Patricia Lussier-Duynstee, Christine Low, Elisa P. Laird, Leslie Neal-Boylan

The Student Who Fails the Medical Board Exam

• Kristina H. Petersen, Lisa M. Meeks

Back Matter

• Case studies
• Disability services

About this book

Editors and affiliations.

Leslie Neal-Boylan

Lisa M. Meeks

About the editors

Leslie Neal-Boylan, PhD, APRN, CRRN, FAAN

Solomont School of Nursing

University of Massachusetts

Lowell, MA, USA

[email protected]

Lisa M. Meeks, PhD, MA

Department of Family Medicine

The University of Michigan Medical School

Ann Arbor, Michigan, USA

[email protected]

Bibliographic Information

Book Title : Disability as Diversity

Book Subtitle : A Case Studies Companion Guide

Editors : Leslie Neal-Boylan, Lisa M. Meeks

DOI : https://doi.org/10.1007/978-3-030-55886-4

Publisher : Springer Cham

eBook Packages : Medicine , Medicine (R0)

Copyright Information : The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Switzerland AG 2021

Softcover ISBN : 978-3-030-55885-7 Published: 01 November 2020

eBook ISBN : 978-3-030-55886-4 Published: 31 October 2020

Edition Number : 1

Number of Pages : XIV, 158

Number of Illustrations : 1 b/w illustrations, 1 illustrations in colour

Topics : Health Administration , General Practice / Family Medicine

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Changes in SCN2A gene affect age of seizure onset, severity of other neurological impairments in affected children

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CHICAGO --- A genetic change or variant in a gene called SCN2A is a known cause of infantile seizures, autism spectrum disorder and intellectual disability, as well as a wide range of other moderate-to-profound impairments in mobility, communication, eating and vision.

The severity of these disorders can vary widely from person to person, but little is known about what is happening at the level of the SCN2A protein to cause these differences.

A new Northwestern Medicine study helps explain how changes in the SCN2A gene affect whether or not a child will develop autism or epilepsy, the age at which seizures start for those with epilepsy and the severity of the child's other impairments.

The study was published April 24 in Brain, a top neurology journal.

These findings will help better identify patients who are most appropriate for clinical trials of new precisions therapies, including those targeting the SCN2A gene itself.

Analyzing sodium channels

The study represents a collaboration between an academic laboratory at Northwestern and the FamilieSCN2A Foundation , a parent-led rare disease advocacy group. The SCN2A Clinical Trials Readiness Study (SCN2A-CTRS) recruited 81 families from around the world and collected detailed clinical data and information to identify their SCN2A variants. The median age was 5.4 years. The youngest age participant was 1 month old and the oldest was 29 years old.

The Northwestern team extensively analyzed the functional effects of each SCN2A variant on the sodium channels — tiny gates in the membranes of nerve cells that control the flow of sodium ions into the cell and help neurons in the brain fire properly. Variants in the SCN2A gene alter how the sodium channel functions. Depending on the individual variant, the channel may be hyperactive (sodium ions flowing more freely) or completely inactive (the channel not working at all). There are variants that make the channel work in ways that are more complex.

The study found a spectrum of effects of the SCN2A variants on sodium channel function from hyperactive channels to completely inactive channels. Importantly, the clinical condition of the child varied with the functional impact on the channel. Hyperactive channels were generally associated with seizure onset in the first week of life. More impaired channel function was more common when the age of seizure onset was older. In fact, almost all of those without seizures had completely inactive sodium channels.  

The severity of other disease-related features also followed this gradient with those most severely impaired (unable to walk, communicate, eat, use their hands), having the youngest age at seizure onset and hyperactive channels. As age at seizures-onset increased and channels became less active, severe neurological impairments in the child tended to be less severe.

“We previously knew that genetic changes in the SCN2A gene were associated with seizures beginning as early as the newborn period and up through the first few years of life,” said co-corresponding author Dr. Alfred George , chair of pharmacology at Northwestern University Feinberg School of Medicine. “We had an overly simplistic understanding of these associations.

“Our new study clarifies the relationship between the functional consequences of SCN2A mutations, the primary phenotype (autism versus epilepsy and age at seizure onset in those with epilepsy) and the overall severity of the child’s impairments (mobility, etc.).”

Findings challenge prevalent understanding

There is a prevalent understanding among scientists that early-onset seizures are associated only with hyperactive sodium channels and underactive or inactive channels are associated with autism, George said. However, it’s more complicated, and children with early onset — in the first three months but after the immediate newborn period — don’t have hyperactive channels.  

“This is important because new precision medicines that are best suited for hyperactive SCN2A variants could be harmful to those with underactive or inactive variants,” George said. “Relying only on the age of seizure onset as a criterion for clinical trial enrollment risks inclusion of inappropriate patients.”

Dr. Anne Berg , adjunct professor of neurology at Feinberg, lead investigator of the SCN2A-CTRS and the co-corresponding study author emphasized that, “in the era of precision medicine for rare genetic diseases, this collaboration between a family foundation and a large NIH-funded project is an exemplar of the new partnerships that are needed and increasingly being developed to provide rapid answers to critical questions and lay foundation for successful drug development for severe neurodevelopmental disorders such as those associated with SCN2A.”  

The CTRS was driven by the patient community stakeholders and represents precisely the kind of efforts encouraged by the recent U.S. Food and Drug Administration Patient-Focused Drug Development Guidance program, which itself was in response to a mandate from the 21st Century Cures Act, Berg said.

Christopher Thompson , research assistant professor of pharmacology at Feinberg, is a co-first author of the study.

This research was funded by the National Institute of Neurological Disorders and Stroke, part of the National Institutes of Health(grant U54-NS108874), the FamilieSCN2A Foundation and the Simons Foundation Autism Research Initiative.

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Science Update: Steroid treatment in late pregnancy does not appear to affect children’s neurodevelopment, NICHD-funded study suggests

Children who were exposed to a steroid at 34 to 36 weeks of pregnancy are no more likely to have cognitive effects than children whose mother did not receive a steroid, suggests a study funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). The findings help to allay concerns that fetal exposure to a steroid in the uterus—given to speed lung development in case of preterm birth—could affect a child’s neurodevelopment.

The study was conducted by Cynthia Gyamfi-Bannerman, M.D., M.S., and colleagues in the NICHD Maternal-Fetal Medicine Units Network. It appears in the Journal of the American Medical Association .

A previous study concluded that giving a single dose of the steroid betamethasone to pregnant people at risk of giving birth at 34 to 36 weeks of pregnancy significantly reduced the risk of respiratory complications in their newborns. However, the study also found that these infants were more likely to develop hypoglycemia (low blood sugar). Prolonged hypoglycemia in newborns is associated with brain injury . Other research suggests that multiple doses of steroids before birth could affect a child’s neurodevelopment.

For the current study, researchers evaluated children of the previous study’s participants when the children were six years old or older. A psychologist evaluated each child using a variety of tests that measured verbal and nonverbal reasoning and comprehension. A total of 949 children completed the testing (479 in the betamethasone group and 470 in the placebo group).

Both groups of children scored similarly across all measures of the test, called the Differential Ability Scales. A total of 17.1% in the betamethasone group received a score of less than 85, which did not differ significantly from the 18.5% of the placebo group. Similarly, the average score was 96.6 for both groups (compared to a national average of 100). Also similar between the groups were scores for verbal ability, nonverbal ability, spatial ability, social responsiveness, gross motor function, and behavior.

Significance

The authors conclude that giving a steroid to pregnant people at risk for late preterm birth to reduce potential respiratory complications in their infants is not associated with adverse neurodevelopmental outcomes at age 6 or older. The results help support the prescribing of corticosteroids to pregnant people at risk for late preterm birth.

Gyamfi-Bannerman, C, et al. Neurodevelopmental Outcomes After late preterm antenatal corticosteroids: The ALPS follow-up study. The Journal of the American Medical Association. 2024. doi:10.1001/jama.2024.4303

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Case study on a mental health child is attached. Highlighted portions are needed to be complete * please list 3 differential diagnoses according to DMS-TR5 * references are to be 3 years or less

Case study on a mental health child is attached. Highlighted portions are needed to be complete

* please list 3 differential diagnoses according to DMS-TR5

* references are to be 3 years or less

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