Significant Intellectual Disability Research Articles

Providing Access to Academic Content for High-School Students With Significant Intellectual Disability Through Interactive Videos

There has been a slight increase in the number of studies focused on the strategies used to introduce content-based instruction to students with moderate/severe disability. However, interventions for students with significant intellectual disability (ID) are lacking adapted materials to make instruction available in all major academic areas including social studies. This multiple baseline study examined the effects of adapted videos for improving factual comprehension of non-fiction clips by four high school students with significant ID. Video adaptations included picture/word-based closed captions and interactive video searching for answers. According to the visual analyses, students performed better with adapted and interactive video clips. Furthermore, social validity interviews revealed that all students enjoyed the adapted and interactive videos and found them beneficial. Limitations and directions for future research in the area of adapted and interactive video instruction are discussed.

Teaching phonics to groups of middle school students with autism, intellectual disabilities and complex communication needs

For students who have severe and multiple disabilities including intellectual disability, complex communication needs, physical and/or sensory disabilities, and autism, there are many barriers to literacy acquisition. The purpose of this study was to teach letter-sound correspondence to small groups of students with significant intellectual disabilities and comorbid communication disorders using the ALL (Accessible Literacy Learning) curriculum. The eight participants in this study, who ranged in age from 11 to 16 years of age and had primary diagnoses of cerebral palsy, autism, Rett syndrome, Down syndrome, and intellectual disability, were placed into four groups for instruction in phonics. The instruction followed the scripted lessons of ALL Curriculum. There was moderate evidence of the functional relation between the use of the ALL Curriculum and participants’ progress towards letter-sound correspondence. Each group of participants demonstrated an increased performance in the treatment phase. The results of the visual analysis were supported by the statistically significant differences yielded by the randomization test analysis. Implications are discussed in terms of the importance of literacy instruction for students with all abilities and needs.

Beyond the Feeble Mind: Foregrounding the Personhood of Inmates with Significant Intellectual Disabilities in the Era of Institutionalization

This essay explores the experiences of persons with significant intellectual disabilities at the Vermont State School for Feebleminded Children (later Brandon Training School) in the period 1915-1960. We discuss the limits of existing histories of intellectual disability in accounting for the distinct experiences of significantly intellectually disabled people. This essay works to correct the tendency to define the nominal intellectual disability of "morons" and "borderline" cases—both in the past and in disability historiography of the past—against the abject, embodied difference of the "low-grade idiot" or "imbecile." The history we offer has implications for the present-day disability rights movement.

An integrated work skill analysis strategy for workers with significant intellectual disabilities

BACKGROUND: As the number of individuals with significant disabilities transitioning into competitive, integrated employment increases, so must the knowledge, experience, and expectations of vocational rehabilitation personnel. Evolving responsibilities require that employment specialists acquire the information, skills, attitudes and values necessary to realize integrated outcomes. OBJECTIVE: This is a follow-up to Brown & Kessler’s 2014 JVR article on generating integrated worksites for individuals with significant disabilities. This article outlines an integrated work skill analysis strategy for individuals with significant disabilities. It is intended that the information presented here can be used to increase the number of individuals with significant intellectual disabilities who function effectively in integrated employment. CONCLUSION: It is important that individuals with significant disabilities are given the opportunities to succeed in employment. Following strategies to ensure the particular work environment will be safe and appropriate for a particular worker is just one step towards the chance to thrive in the workplace.

Introduction to the Special Issue: Teaching AAC Use to Individuals with Developmental and Physical Disabilities

Individuals with developmental and physical disabilities also often have severe communication impairment or complex communication needs (Beukelman and Mirenda 2013). The term severe communication impairment refers to situations where the person’s speech is so limited or unintelligible that it is unable to meet his or her everyday communication needs. Lack of sufficient, intelligible speech is prevalent among individuals with developmental and physical disabilities. McQueen et al. (1987), for example, found that approximately 65 % of children with significant intellectual disability had limited or no intelligible speech. Among children with autism spectrum disorder, Tager-Flusberg and Kasari (2013) noted that about 30 % are likely to Bremain with little expressive spoken language ability by the time they reach school age.^ (p. 468). The high prevalence of severe communication impairment among individuals with developmental and physical disabilities makes communication intervention a major habilitation priority for this population. AAC intervention requires identifying suitable non-speech communication modalities, as well as teaching the person to use non-speech modes for effective communication. To this end, AAC research is often focused on developing new and more effective intervention approaches. This special issue of the Journal of Developmental and Physical Disabilities was commissioned to attract papers that focused on developing new and more effective intervention approaches for individuals with developmental and physical disabilities and severe communication impairment. The goal of this special issue is to provide a forum for researchers using a broad range of AAC systems and intervention approaches to share the results of their recent efforts, be they empirical or conceptual. A secondary J Dev Phys Disabil (2016) 28:1–4 DOI 10.1007/s10882-015-9469-6

De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features.

We identified five unrelated individuals with significant global developmental delay and intellectual disability (ID), dysmorphic facial features and frequent microcephaly, and de novo predicted loss-of-function variants in chromosome alignment maintaining phosphoprotein 1 (CHAMP1). Our findings are consistent with recently reported de novo mutations in CHAMP1 in five other individuals with similar features. CHAMP1 is a zinc finger protein involved in kinetochore–microtubule attachment and is required for regulating the proper alignment of chromosomes during metaphase in mitosis. Mutations in CHAMP1 may affect cell division and hence brain development and function, resulting in developmental delay and ID.

MG-112 Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

Background The dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A) gene on chromosome 21q22.13 within the Down syndrome critical region has been implicated in syndromic intellectual disability associated with Down syndrome and autism. DYRK1A plays a critical role in brain growth and development primarily by regulating cell proliferation, neurogenesis, neuronal plasticity and survival. Several patients with chromosome 21 aberrations, such as partial monosomy, involving multiple genes including DYRK1A have been reported. In addition, seven other individuals have been described with chromosomal rearrangements, intragenic deletions or truncating mutations that specifically disrupt DYRK1A. Most of these patients have microcephaly and all have significant intellectual disability. Objectives The purpose of this study was to further delineate the recurrent clinical features and types of mutations that disrupt DYRK1A in patients with ‘DYRK1A syndrome’. Design/method Targeted or whole exome next-generation sequencing and array comparative genomic hybridization analysis were used to identify DNA sequence variations and copy number variants, respectively. Results We identified unique mutations in DYRK1A in nine patients and a large chromosomal deletion that encompassed DYRK1A in one patient. These individuals had a recurrent pattern of clinical manifestations including primary or acquired microcephaly, intellectual disability ranging from mild to severe, speech delay or absence, seizures, autism, motor delay, deep-set eyes, poor feeding and poor weight gain. Conclusions Based on the increasing identification of mutations in DYRK1A, we suggest this gene be considered as potentially causative in patients presenting with intellectual disability, primary or acquired microcephaly, feeding problems and absent or delayed speech with or without seizures.

IPod Touch® to Increase Functional Communication of Adults With Autism Spectrum Disorder and Significant Intellectual Disability

Adults with autism spectrum disorder (ASD) and significant intellectual disability (ID) often have limited speech communication abilities. Abundant research supports use of augmentative and alternative communication (AAC) to enhance skills of children with ASD and ID, but less research has examined efficacy of AAC with non-speaking adults. In this study, three adults with ASD and significant ID were taught basic functional communication using the iPod Touch® with MyTalk Mobile® software within a single-case, multiple-probe across-subjects design. The iPod Touch® taught with most-to-least prompting increased participants’ independent manding, participants were able to discriminate between picture symbols, and participants’ manding generalized to a naturalistic setting with typically available preferred items. Implementation of AAC coincided with increases in speech for one participant. Results illustrate how an applied behavior analysis approach incorporating a speech generating device is effective in teaching communication to adults with ASD and significant ID.

A decade of change in mainstream education for children with intellectual disabilities in the Republic of Ireland

Inclusive rather than segregated schooling has been advocated in several significant international declarations during the past two decades. Even so children with significant intellectual disabilities are at greater risk of being excluded from mainstream education, unless particular efforts are made to support them in such settings. These children and young people are more likely to be educated in special schools or in special classes within mainstream schools. In the decade from 2003 to 2013, the Republic of Ireland enacted legislation and provided additional financial resources for pupils with special educational needs, although these were more constrained during the financial crisis that Ireland experienced from 2008 onwards. A national database, updated annually, is maintained of children receiving services from specialist intellectual disability services and this enabled comparisons to be made for the enrolments of over 8000 children aged 4–19 in mainstream and special schools following the introduction of legislation and availability of additional resources. The data showed a steady increase in children with significant intellectual disabilities attending mainstream classes and a decrease in the proportion attending special schools along with a much smaller but decreasing proportion in special classes. The profile of pupils with intellectual disabilities in mainstream and special schools also changed over the 10 years with higher proportions of males, of pupils with moderate disabilities and those of primary age attending mainstream schools, whereas special schools now tend to have higher proportions of females and those of secondary school age. However, there was marked regional variation in the proportions of pupils in mainstream schools which was attributed to the availability of special schools across the State. This study demonstrates how a national data-set can be used to track the impact that policy changes and legislation designed to enhance the development of inclusive learning environments had on the number of pupils availing of mainstream opportunities. It was also possible to identify prevailing trends in types of support provided within schools and the changing pattern of provision for pupils with different levels of intellectual disability. At the broader level of international trends in policy and provision aimed at establishing inclusive learning environments, this study demonstrates the need for a common frame of reference around which the national and international conversations on educational systems can take place.

Communication Training Supporting an AAC User with Severe Intellectual Disability: Application of the Communication Partner Instruction Model

This investigation employed the Communication Partner Instruction (CPI) training model in a large North Carolina residential facility for persons with significant intellectual disabilities. A single-subject multiple baseline study design was employed by researchers. Four adult women (staff participants) were trained to support the expressive communicative abilities of one individual with severe intellectual disabilities (resident) who used AAC (a static book of approximately 100 symbols). Staff participants varied with respect to their daily contact and interaction with the resident. Two participants were staff trainers, one was a chaplain, and one was a teacher. Staff participants experienced demonstrable gains with two of three trained dependent variables: providing communication opportunities and modeling AAC system use. Results of training for a third variable, assuring AAC system access, were inconclusive. Training effects were not maintained post intervention. The resident, though not a focus of training efforts, initiated communication with her system more frequently with all staff participants after training. Findings provide preliminary support for CPI training as a means of teaching communication partners strategies to support AAC use; although, additional research is needed. Future directions for CPI training and study are proposed.

The Alternate Assessment Based on Alternate Achievement Standards Eligibility Decision-Making Process

Under No Child Left Behind (NCLB), students with significant intellectual disabilities (ID) are allowed to take alternate assessments based on alternate achievement standards (AA-AAS) in lieu of the standardized assessments taken by their peers, however evidence suggests that IEP teams inconsistently and sometimes inaccurately apply established participation criteria in finding students eligible to participate in AA-AAS. The purpose of this generic qualitative study was to describe the decision-making process used by Individual Education Program (IEP) teams to identify students eligible to participate in AA-AAS. Thirteen case managers of students taking the Virginia Alternate Assessment Program (VAAP) from central Virginia participated in in-depth interviews. The findings resulted in the Influences on the Process of AA-AAS Eligibility Decisions (IPAED) Model describing a three-phased eligibility decision-making process. Implications suggest the need for training for all IEP team members, with a particular focus on parent education and involvement.

Abstract 2892: A MYC-driven medulloblastoma model derived from human induced pluripotent stem cells

Abstract Brain tumors are the most common cause of childhood oncological death, and medulloblastoma (MB) is the most common malignant pediatric brain tumor. Current MB treatments yield five-year survival rates of 60-70%, but usually result in significant neurological, intellectual and physical disabilities. Recent gene expression studies have identified four MB subgroups, many of which have unique clinical and histopathological features. Patients with Group 3 MB are more likely to have aggressive and invasive tumors with large cell/anaplastic histology, and have the worst prognosis. Group 3 MB is characterized by amplification and overexpression oncogenic transcription factor MYC, herein referred to as MYC-driven MB. Modeling MYC-driven MB is critical for developing and testing potential therapies for this highly aggressive MB. Recently, murine MYC-driven MB models have been developed using mouse neural stem cells (NSCs) or neuronal precursor cells (NPCs). But human MB models derived from individual-specific cells are still lacking. Human induced pluripotent stem cells (iPSCs) can be differentiated into various types of cells and hold great promise for developing individual-specific disease models. It is valuable to develop MB models using human iPSCs from both MB patients and unaffected persons. In comparison with mouse-cell-derived MB models, human-iPSC-derived MB models will provide a unique and high-impact platform not only for personalized drug discovery but also for studying the role of individual's distinctive genetic background in carcinogen sensitivity and MB susceptibility. Transcription factor Atoh1 governs the development of cerebellar granule neurons and is essential for MB formation. Here, we induced Atoh1 in human iPSCs to differentiate these cells into NPCs. We further infected these Atoh1-induced NPCs with lentiviruses encoding a stabilized form of MYC (MYCT58A) and dominant-negative p53 (DNp53). These NPCs generated aggressive tumors after being transplanted into mouse cerebellum. NPCs infected by DNp53 alone did not form tumors after 90 days. These MYC-driven tumors were comprised of poorly differentiated, medium to large size cells which showed nuclear molding, prominent nucleoli and numerous mitotic (Ki67+) and apoptotic (Cleaved-Caspase-3+) cells. These tumors also expressed early neuronal lineage marker (β-tubulin III). All these features closely mimic human Group 3 MB. Moreover, we also established neurosphere cultures from these MYC-driven tumors to enrich cancer stem-like cells that have the capability for long-term self-renewal and tumor initiation upon serial transplantations. In summary, we established a novel human-iPSC-drived cancer model for modeling MYC-driven MB. Our results support the feasibility to recapitulate human cancers using progenies derived from human iPSCs. The iPSC-derived MB model we established will facilitate mechanistic studies and drug testing for human aggressive MB. Citation Format: Jonathan Sagal, Charles G. Eberhart, Mingyao Ying. A MYC-driven medulloblastoma model derived from human induced pluripotent stem cells. [abstract]. In: Proceedings of the 106th Annual Meeting of the American Association for Cancer Research; 2015 Apr 18-22; Philadelphia, PA. Philadelphia (PA): AACR; Cancer Res 2015;75(15 Suppl):Abstract nr 2892. doi:10.1158/1538-7445.AM2015-2892

Preparing preschool teacher candidates for inclusion: impact of two special education courses on their perspectives

Successful implementation of inclusive practices depends mainly on teachers' attitudes towards children with special needs and their inclusion, and teachers' willingness to work with children with special needs in their classrooms. Experiences teacher candidates have during pre‐service stage might influence their perceptions towards children with disabilities and their inclusion. The purpose of this study was to examine the impact of two special education courses on (1) preschool teacher candidates' general attitudes towards inclusion, (2) their willingness to work with children with significant intellectual, physical and behavioural disabilities within inclusive classroom settings and (3) their level of comfort in interacting with children with disabilities. A four‐part survey was administered to participants four times throughout the study, once before and after each course. The survey package included (1) a demographic information form, (2) the Opinions Relative to the Inclusion of Students with Disabilities Scale, (3) an adapted version of the Teachers' Willingness to Work with Children with Severe Disabilities Scale and (4) the Interaction with Children with a Disability Scale. The results showed that both special education courses positively influenced teacher candidates' attitudes, willingness and comfort levels. However, impact of the second course focused on helping teacher candidates learn and apply instructional strategies to work with children with disabilities in inclusive classrooms was much larger. Implications of the study findings in relation to future research and practice are discussed.

Narrativising Envisioned Futures by Adolescents with Significant Intellectual Disabilities

This study sought to understand what the narratives of young people with severe intellectual disabilities revealed about their envisioned future, articulated as desired post-school outcomes. Drawing upon a case study involving in-depth interviews of families and adolescents with intellectual disability attending secondary school in the southern region of the United States, this article highlights ways in which adolescents with intellectual disability are disrupting and subverting master discourses of normalcy that limit their lives by re-articulating their gendered and sexual selves, thereby moving transition research into the little-researched realm of qualitative adult outcomes. This article raises a number of critical questions about the social construction of “disabled adolescence” utilising a disability studies perspective and emphasising nuanced ways of understanding youth voice. The article explores the social construction of gender and sexuality from the standpoint of adolescents with intellectual disability and addresses some of the complexities of “voice” when doing research with young people with severe intellectual disabilities and the contradictions of parents’ roles in the process.

Instructional Methods that Foster the Reading Development of Students with Significant Intellectual Disabilities

Educational legislation has made reading a priority for students with significant intellectual disabilities (ID) and associated speech, language, sensory, or physical impairments. Historically, reading instruction for students with significant ID has focused on sight word instruction, with limited exposure to other essential reading skills. This article focuses on the evidence-based instructional methods that effectively and efficiently foster the reading development of students with significant ID. The authors reviewed the literature from the past 20 years on reading interventions for students with significant ID. In spite of access and opportunity barriers that have inhibited the reading development of students with significant ID, a synthesis of the empirical research on reading instruction suggests that students with significant ID and associated disabilities can learn phonemic awareness, phonics, vocabulary, fluency, and comprehension skills with direct instruction. Implications for providing reading instruction that effectively promotes reading development are discussed and areas for future research are identified.

Supporting Nick to Make Decisions: An Exploration of Ways to Promote Choice and Control

This article focuses on both the importance and challenges of decision-making for people with intellectual disabilities, using the example of one young man, Nick, as the context for discussion of these issues. Nick is a young man with significant physical and intellectual disability. He has a severe communication impairment and uses a range of Alternative and Augmentative Communication (AAC) strategies to express himself. The article is written by Nick's mother and uses examples from family life to explore the daily tensions in, and opportunities for, choice making.Communication is at the core of decision-making, and examples of enablers and barriers to successful communication are given. Nick's cognitive abilities impact on the complexity of decisions he can make, the circumstances in which he can make those decisions, and which decisions are relevant and appropriate for him. Supporting Nick in decision making therefore requires an intimate understanding of his personality, his strengths and weaknesses, and what is important to him in his life.Strategies to support Nick to optimise his success in communication and decision-making are given. Emphasis is placed on the importance of providing opportunities for learning through practice to continue to build capacity for decision-making throughout life.

Non-pharmaceutical management of respiratory morbidity in children with severe global developmental delay.

Children with severe global developmental delay (SGDD) have significant intellectual disability and severe motor impairment; they are extremely limited in their functional movement and are dependent upon others for all activities of daily living. SGDD does not directly cause lung dysfunction, but the combination of immobility, weakness, skeletal deformity and parenchymal damage from aspiration can lead to significant prevalence of respiratory illness. Respiratory pathology is a significant cause of morbidity and mortality for children with SGDD; it can result in frequent hospital admissions and impacts upon quality of life. Although many treatment approaches are available, there currently exists no comprehensive review of the literature to inform best practice. A broad range of treatment options exist; to focus the scope of this review and allow in-depth analysis, we have excluded pharmaceutical interventions. To assess the effects of non-pharmaceutical treatment modalities for the management of respiratory morbidity in children with severe global developmental delay. We conducted comprehensive searches of the following databases from inception to November 2013: the Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE, EMBASE, the Allied and Complementary Medicine Database (AMED) and the Cumulative Index to Nursing and Allied Health Literature (CINAHL). We searched the Web of Science and clinical trials registries for grey literature and for planned, ongoing and unpublished trials. We checked the reference lists of all primary included studies for additional relevant references. Randomised controlled trials, controlled trials and cohort studies of children up to 18 years of age with a diagnosis of severe neurological impairment and respiratory morbidity were included. Studies of airways clearance techniques, suction, assisted coughing, non-invasive ventilation, tracheostomy and postural management were eligible for inclusion. We used standard methodological procedures as expected by The Cochrane Collaboration. As the result of heterogeneity, we could not perform meta-analysis. We have therefore presented our results using a narrative approach. Fifteen studies were included in the review. Studies included children with a range of severe neurological impairments in differing settings, for example, home and critical care. Several different treatment modalities were assessed, and a wide range of outcome measures were used. Most studies used a non-randomised design and included small sample groups. Only four randomised controlled trials were identified. Non-randomised design, lack of information about how participants were selected and who completed outcome measures and incomplete reporting led to high or unclear risk of bias in many studies. Results from low-quality studies suggest that use of non-invasive ventilation, mechanically assisted coughing, high-frequency chest wall oscillation (HFCWO), positive expiratory pressure and supportive seating may confer potential benefits. No serious adverse effects were reported for ventilatory support or airway clearance interventions other than one incident in a clinically unstable child following mechanically assisted coughing. Night-time positioning equipment and spinal bracing were shown to have a potentially negative effect for some participants. However, these findings must be considered as tentative and require testing in future randomised trials. This review found no high-quality evidence for any single intervention for the management of respiratory morbidity in children with severe global developmental delay. Our search yielded data on a wide range of interventions of interest. Significant differences in study design and in outcome measures precluded the possibility of meta-analysis. No conclusions on efficacy or safety of interventions for respiratory morbidity in children with severe global developmental delay can be made based upon the findings of this review.A co-ordinated approach to future research is vital to ensure that high-quality evidence becomes available to guide treatment for this vulnerable patient group.

The Maturing of Facilitated Communication

Facilitated communication (FC) can be a successful means for people to learn to communicate effectively and independently. The preponderance of peer-reviewed articles supports FC as a useful tool for developing communication skills. While there has been a chasm of difference in qualitative versus quantitative studies on FC, researchers have produced a body of current literature confirming the method. Many people with significant intellectual disabilities, through the use of FC, have been able to demonstrate their ability to successfully communicate. We, as a profession, now need to respond with collaborative scholarship. In addition, revised position statements must be developed reflecting the past research findings and encouraging future research.

Severity of manifestations in tuberous sclerosis complex in relation to genotype.

Patients with tuberous sclerosis complex (TSC) commonly present with significant neurologic deficits, including seizures, autism, and intellectual disability. Previous evidence suggests that the TSC2 mutation genotype may be associated with a more severe disease phenotype. This study evaluates the association of the TSC1 and TSC2 genotype with patient and disease characteristics in a retrospective review of a large TSC Natural History Database consisting of 919 patients with TSC. Univariate logistic regression was conducted to evaluate the association of the TSC1 and TSC2 gene mutations with patient and disease characteristics. As compared to patients with the TSC1 mutation, patients with the TSC2 mutation were younger (p = 0.02), more likely to have partial epilepsy (odds ratio (OR) 1.74, p = 0.0015), complex partial seizures (OR 2.03, p = 0.02), infantile spasms (IS) (OR 1.67, p = 0.01), subependymal giant-cell astrocytomas (SEGAs) (OR 1.64, p = 0.01), and intellectual disability (OR 2.90, p = 0.0002). The clinical presentation of TSC is highly variable and not well understood. Our findings confirm and supplement existing literature that TSC2 mutation is likely to be associated with a more severe, earlier presenting TSC phenotype, including infantile spasms.

Abnormalities in Pattern of Lateralization in Relation to Visuospatial Short Term Memory in Children with Williams Syndrome

Williams syndrome (WS) is a genetic disorder characterised by significant intellectual disability. Initial studies indicate that children with WS have a profound bias for information in the top left of visual arrays. Study 1, using a visuospatial memory test for items presented in a3×3matrix, found a significant top left bias in WS children relative to controls. Study 2 used a probe-based memory test with arrays in which items appeared with equal probability in each position. Relative to controls, WS children showed a significant top and left bias. In Study 3, the same children engaged in a visual search task and again, a top and left bias was found in the WS group. It is concluded that children with WS display atypical laterality, which might be explained by abnormal saccadic movements, by abnormalities involving development of the dorsal stream or by uneven cortical development.