Severe Developmental Disabilities Research Articles

A Mobile Application and Academic Portal to Support Professionals Working with People Having Severe Intellectual or Developmental Disabilities

Abstract Some recent works claim that more support is required to include people with severe intellectual or developmental disabilities in their communities. This support can be provided in the form of tools for the professionals that will be in charge of the disabled people, that is, teachers, psychologists, speech therapists, etc. In this communication, we present one ICT tool for this purpose. The tool is composed of a mobile application, where the professionals can see some basic information on different syndromes that affect the communication abilities and have access to a list of basic words with related resources like sign language videos, pictures and pictograms. All the resources included in the mobile application are available in four different languages (Spanish, Catalan, German and Dutch) and are downloaded from a web service (not installed in the mobile application). The separation of mobile application and web service allows us to update and add resources whenever it is needed. The second part of the tool is an academic portal where the administrators can update and upload new resources that will be immediately available in the academic portal and in the mobile applications. These tools have been designed using an agile development methodology, which allows the frequent interaction between the stakeholders and the developers to end with a high quality software product. The design of both the academic portal and the mobile application allows the addition of new languages for the resources.

On the role of values clarification and committed actions in enhancing the engagement of direct care workers with clients with severe developmental disorders

The purpose of the present study was to evaluate the effects of values clarification and committed action on the engagement of direct care staff with their clients with severe developmental disabilities. Participants participated in several workshops in which values exercises pertinent to their job and direct work with clients were completed and discussed. Committed actions were also established by each participant. Results from a multiple baseline across participants design showed that staff emitted 11–16 more instances of engagement with clients following the values workshops relative to their baseline levels. Implications of values clarification plus committed action workshops as a regular component of staff training for human services staff are discussed.

Psychosocial correlates of psychiatric diagnoses and maladaptive behaviour in youth with severe developmental disability.

We know little about the correlates of mental health problems in youth with severe and profound intellectual disability (ID), as most research includes these youth within larger samples that include greater proportions of mild and moderate disability. The purpose of the current study was to identify the child, family and psychosocial characteristics that were associated with the presence of psychiatric diagnoses and maladaptive behaviour in youth with severe ID. Participants were 141 parents of youth with severe or profound levels of ID, 4 to 18 years of age. The mean age of children was 11.04 years (SD = 3.38), with 68% male and 39% with autism spectrum disorder (ASD). Parents completed a primarily online survey of child and family characteristics, negative life events, family quality of life and their own mental health. Logistic regression analyses revealed that youth with a psychiatric diagnosis had higher levels of adaptive behaviour and experienced more negative life events than youth without psychiatric diagnosis, while the presence of clinically significant maladaptive behaviour was related to higher levels of adaptive behaviour, parents' mental health problems and lower family quality of life. Child age, gender, ASD status and financial hardship were not related to either outcome variable. Youth with severe and profound ID who experience psychosocial stressors are more likely reported to have mental health problems than youth without such stressors. It is likely that a combination of child and family based interventions, along with with policies that address larger systemic issues of social adversity, are needed to promote mental health and treat psychopathology when it arises.

Comment: Improving the care of people with epilepsy and intellectual disabilities.

Epilepsy and intellectual disabilities are both relatively common in the general population, each affecting between 0.5% and 1%. Both conditions share a common heritage of heterogeneity, dearth of care expertise outside major centers, and an unfortunate degree of stigmatization.1 They are often comorbid, as up to one-third of people with active epilepsy have an intellectual and developmental disability and up to half of people with a severe intellectual and developmental disability may have a seizure disorder. There is clearly a paucity of authoritative studies on most aspects of this common association and this is particularly true for assessments of effective management.1 This limitation reduces the quality of care of these individuals, and thus their quality of life, also affecting other involved persons, such as families, and, potentially, their careers.

Retracted Article: Growth attenuation and young people with profound disabilities – why we need to talk about Charley

In 2004 an intervention known as the Ashley Treatment (AT) was sought on behalf of Ashley X, a girl with severe developmental disabilities. A discursive interpretive framework is used to investigate use of the AT in the case of Charley Hooper in New Zealand in 2009. This investigation found that use of the AT is intimately bound up in ideas about worthiness of life related to the ability to act as an autonomous agent within social structures. Questions this case raises about ethical decision-making and future physical and social requirements for profoundly disabled young people in the future are posed.

Lucky

Lucky

“Crying Doesn’t Work”: Emotion and Parental Involvement of Working Class Mothers Raising Children with Developmental Disabilities

This article presents three critical case studies that explore the relationship between income and parental involvement in the education of children with developmental disabilities. Interviewed as part of a larger study on mothering children with developmental disabilities, Joy, Jackie, and Maya are low income mothers of children with severe developmental disabilities living in New Hampshire. These women describe carefully planned parenting practices designed to foster child development, which yield both engagement with and strategic disengagement from formal bureaucracies. This is a decided departure from previous theorization on low income mothers' approaches to child development. Grounded analysis of these interview cases suggests that emotion management may be a critical factor in both structuring parental involvement with educational systems as well as enacting class differences within the special education system.

Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.

Mutations of ATP1A3 have been associated with rapid onset dystonia-parkinsonism and more recently with alternating hemiplegia of childhood. Here we report one child with catastrophic early life epilepsy and shortened survival, and another with epilepsy, episodic prolonged apnea, postnatal microcephaly, and severe developmental disability. Novel heterozygous mutations (p.Gly358Val and p.Ile363Asn) were identified in ATP1A3 in these children. Subjects underwent next-generation sequencing under a research protocol. Clinical data were collected retrospectively. The biochemical effects of the mutations on ATP1A3 protein function were investigated. Postmortem neuropathologic specimens from control and affected subjects were studied. The mutations localized to the P domain of the Na,K-ATPase α3 protein, and resulted in significant reduction of Na,K-ATPase activity in vitro. We demonstrate in both control human brain tissue and that from the subject with the p.Gly358Val mutation that ATP1A3 immunofluorescence is prominently associated with interneurons in the cortex, which may provide some insight into the pathogenesis of the disease. The findings indicate these mutations cause severe phenotypes of ATP1A3-related disorder spectrum that include catastrophic early life epilepsy, episodic apnea, and postnatal microcephaly.

Epileptological treatment of persons with severe and profound intellectual and developmental disabilities

Die medizinische Versorgung von erwachsenen Menschen mit geistiger Behinderung ist in Deutschland immer noch unzureichend. Epilepsien sind, neben psychischen Storungen, diejenigen Probleme, die eine Behandlung in medizinischen Einrichtungen, die nicht in besonderem Mas auf die Behandlung von Menschen mit Entwicklungsstorungen eingerichtet sind, erschweren. Deshalb sind Zentren der Epileptologie in besonderer Weise angesprochen, sich dieser Patientengruppe, auch uber eigentlich epileptologische Fragestellungen hinaus, anzunehmen. Bereits unmittelbar Epilepsien betreffenden Problemen bei Personen mit geistiger Behinderung kann oftmals nicht adaquat entsprochen werden, wenn eine korrekte syndromale Zuordnung nicht erfolgt und somit syndromspezifische epileptologische Aspekte nicht erkannt werden. Zahlreiche neurologische Fragestellungen mussen in der diagnostischen und therapeutischen Arbeit bei Patienten mit Entwicklungsstorungen besonders haufig angegangen werden, u. a. gestorter Schlaf, motorische und Schluckstorungen sowie Schmerzen/Schmerzsyndrome. Wichtig ist es, gute Kooperationsmoglichkeiten mit anderen medizinischen Fachgebieten, insbesondere auch mit der Anasthesie zu etablieren. Haufig sind namlich Zusatzuntersuchungen (z. B. Magnetresonanztomographie) bei dieser Personengruppe nur in Narkose moglich. Eine aufwandgerechte Finanzierung der ambulanten und auch der stationaren Versorgung von erwachsenen Menschen mit Entwicklungsstorungen konnte in Deutschland noch nicht erreicht werden.

PO-0839 Capnography In Patients With Severe Neurological Impairment

<h3>Background</h3> Respiratory disease is a common reason for hospitalisation and mortality in persons with severe intellectual and developmental disability. Assessment of acute respiratory decompensation and differentiating it from chronic pathology is a frequently encountered challenge. Partial pressure of CO2 is commonly used as an aid in this setting. <h3>Aim</h3> To evaluate baseline end tidal CO2 (EtCO2) levels using non-invasive side stream capnometry and to identify factors correlated with higher capnometry readings in this patient population. <h3>Methods</h3> This was a prospective, case controlled, cross sectional study to assess differences of baseline EtCO2 values between neurologically impaired patients and healthy individuals. Patient’s demographic and clinical data were recorded. Variables correlating with higher EtCO2 readings and those that may predict clinically meaningful difference among neurologically impaired patients were evaluated. <h3>Results</h3> Seventy eight patients and 53 healthy individuals were included. The mean (±SD) EtCO2 values were higher for neurologically impaired patients as compared to healthy individuals (39.14 ± 3.59 and 37.11 ± 1.88 mmHg respectively; p &lt; 0.0001), and highest among patients using antipsychotic medications (41.53 ± 5.257 mmHg). Kyphoscoliosis and the use of antipsychotic drugs were the major factors to increase EtCO² levels. <h3>Conclusion</h3> Knowing the patient’s baseline EtCO2 value, as well as baseline oximetry, could guide treatment decisions, when assessing the patient’s oxygenation and ventilation during acute respiratory illness. Future research can shed light on the utility of capnometry and clinical implications of higher baseline EtCO² values among neurologically impaired patients.

Out-of-home placement for children and adolescents with disabilities.

The vast majority of children and youth with chronic and complex health conditions who also have intellectual and developmental disabilities are cared for in their homes. Social, legal, policy, and medical changes through the years have allowed for an increase in needed support within the community. However, there continues to be a relatively small group of children who live in various types of congregate care settings. This clinical report describes these settings and the care and services that are provided in them. The report also discusses reasons families choose out-of-home placement for their children, barriers to placement, and potential effects of this decision on family members. We examine the pediatrician's role in caring for children with severe intellectual and developmental disabilities and complex medical problems in the context of responding to parental inquiries about out-of-home placement and understanding factors affecting these types of decisions. Common medical problems and care issues for children residing outside the family home are reviewed. Variations in state and federal regulations, challenges in understanding local systems, and access to services are also discussed.

Sensors and instrumentation for unobtrusive sleep quality assessment in autistic children.

Little is understood about the sleep quality of children with autism and other developmental disabilities. Conventional sensors and instrumentation for objective sleep quality assessment, such as those used in polysomnography, are highly obtrusive and not well-suited to this patient population. This paper presents a set of sensors and instrumentation for unobtrusive measurement of physiological and behavioral parameters indicative of sleep quality. Specifically, load cells, an electromechanical film, and thermocouples are used to measure respiratory rate, pulse rate, and physical activity of a subject lying on a bed. The sensor suite is being developed to monitor sleep quality of children at Heartspring, a residential and educational facility in Wichita, KS that serves children with severe developmental disabilities. These technologies have the potential to provide objective sleep quality assessment for children in their home environment.

A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion.

BackgroundInfantile spasms (IS) is a specific type of epileptic encephalopathy associated with severe developmental disabilities. Genetic factors are strongly implicated in IS, however, the exact genetic defects remain unknown in the majority of cases. Rare mutations in a single gene or in copy number variants (CNVs) have been implicated in IS of children in Western countries. The objective of this study was to dissect the role of copy number variations in Chinese children with infantile spasms.MethodsWe used the Agilent Human Genome CGH microarray 180 K for genome-wide detection of CNVs. Real-time qPCR was used to validate the CNVs. We performed genomic and medical annotations for individual CNVs to determine the pathogenicity of CNVs related to IS.ResultsWe report herein the first genome-wide CNV analysis in children with IS, detecting a total of 14 CNVs in a cohort of 47 Chinese children with IS. Four CNVs (4/47 = 8.5%) (1q21.1 gain; 1q44, 2q31.1, and 17p13 loss) are considered to be pathogenic. The CNV loss at 17p13.3 contains PAFAH1B1 (LIS1), a causative gene for lissencephaly. Although the CNVs at 1q21.1, 1q44, and 2q23.1 have been previously implicated in a wide spectrum of clinical features including autism spectrum disorders (ASD) and generalized seizure, our study is the first report identifying them in individuals with a primary diagnosis of IS. The CNV loss in the 1q44 region contains HNRNPU, a strong candidate gene recently suggested in IS by the whole exome sequencing of children with IS. The CNV loss at 2q23.1 includes MBD5, a methyl-DNA binding protein that is a causative gene of ASD and a candidate gene for epileptic encephalopathy. We also report a distinct clinical presentation of IS, microcephaly, intellectual disability, and absent hallux in a case with the 2q23.1 deletion.ConclusionOur findings strongly support the role of CNVs in infantile spasms and expand the clinical spectrum associate with 2q23.1 deletion. In particular, our study implicates the HNRNPU and MBD5 genes in Chinese children with IS. Our study also supports that the molecular mechanisms of infantile spasms appear conserved among different ethnic backgrounds.

Parental adaptation to out-of-home placement of a child with severe or profound developmental disabilities.

Utilizing grounded theory qualitative research methods, a model was developed for describing parental adaptation after voluntary placement of a child with severe or profound developmental disabilities in out-of-home care. Interviews of parents from 20 families were analyzed. Parents' cognitive appraisals of placement outcomes were classified as either inducing emotional stress (i.e., guilt, sadness, fear and worry, anger and frustration, and uncertainty) or relief. Parental appraisals of responses to placement by children, extended family, and friends were identified as factors affecting the parents' adaptation to placement. The primary coping methods used by parents to decrease emotional stress and increase relief consisted of reappraisals regarding the necessity of placement, involvement in the child's life, psychotherapy, and the passage of time.

Capnography in patients with severe neurological impairment

Respiratory disease is a common reason for hospitalization and mortality in persons with severe intellectual and developmental disability. Capnography is the measurement and numerical display of end-tidal carbon dioxide (EtCO2). This was a prospective, case controlled, cross sectional study to assess differences of baseline EtCO2 values between neurologically impaired patients and healthy individuals. 86 neurologically impaired patients were evaluated in the study group. Their mean age ± SD was 25.65 ± 10.48 years with 41% males. 53 healthy children and young adults were evaluated in the control group. Their mean age ± SD was 21.95 ± 10.38 years with 54.7% males. Patients with severe neurological impairment had higher baseline EtCO2 values than healthy individuals. Kyphoscoliosis and the use of antipsychotic drugs were the major factors to increase EtCO2 levels. Knowing the patient's baseline EtCO2 value, as well as baseline oximetry, could guide treatment decisions, when assessing the patient's oxygenation and ventilation during acute respiratory illness, and can potentially prevent unnecessary laboratory and imaging investigations as well as over treatment. Future research can shed light on the utility of capnometry and clinical implications of higher baseline EtCO2 values among neurologically impaired patients.

TroX: a new method to learn about the genesis of aneuploidy from trisomic products of conception.

An estimated 10-30% of clinically recognized conceptions are aneuploid, leading to spontaneous miscarriages, in vitro fertilization failures and, when viable, severe developmental disabilities. With the ongoing reduction in the cost of genotyping and DNA sequencing, the use of high-density single nucleotide polymorphism (SNP) markers for clinical diagnosis of aneuploidy and biomedical research into its causes is becoming common practice. A reliable, flexible and computationally feasible method for inferring the sources of aneuploidy is thus crucial. We propose a new method, TroX, for analyzing human trisomy data using high density SNP markers from a trisomic individual or product of conception and one parent. Using a hidden Markov model, we infer the stage of the meiotic error (I or II) and the individual in which non-disjunction event occurred, as well as the crossover locations on the trisomic chromosome. A novel and important feature of the method is its reliance on data from the proband and only one parent, reducing the experimental cost by a third and enabling a larger set of data to be used. We evaluate our method by applying it to simulated trio data as well as to genotype data for 282 trios that include a child trisomic for chromosome 21. The analyses show the method to be highly reliable even when data from only one parent are available. With the increasing availability of DNA samples from mother and fetus, application of approaches such as ours should yield unprecedented insights into the genetic risk factors for aneuploidy. An R package implementing TroX is available for download at http://przeworski.uchicago.edu/.

Aicardi syndrome in a 47 XXY male – A variable developmental phenotype?

BackgroundAicardi syndrome (AS) is a rare neurodevelopmental disorder characterized by the triad of corpus callosum agenesis, chorioretinal lacunae, and infantile spasms. Most patients with AS also have intractable epilepsy, moderate to severe learning disability, and a reduced life expectancy. An X-linked dominant inheritance caused by de novo mutations pattern, lethal in males, is postulated, but the gene has not yet been isolated. There are three case reports of 47 XXY males with classic features of AS who all had severe developmental disability. Case reportWe report a case of a 3.5-year old 47 XXY male with the classic triad of Aicardi syndrome but with good seizure control and mild learning disability.

Brazilian Portuguese translation and cross-cultural adaptation of the “Caregiver Priorities and Child Health Index of Life with Disabilities” (CPCHILD©) questionnaire

BackgroundConsideration of the quality of life in relation to individual health status is crucial for planning and maintaining a system of patient-centered care. Until recently, there have been no suitable instruments to assess health-related quality of life (HRQoL,) of children and adolescents with severe, non-ambulant cerebral palsy (GMFCS functional levels IV and V). The “Caregiver Priorities and Child Health Index of Life with Disabilities Questionnaire” (CPCHILD©) was developed in English specifically for this population, and has been validated in Canada. The aim of this study was to translate and adapt the CPCHILD© Questionnaire into Brazilian Portuguese, thus permitting researchers in Brazil to access this important tool for measuring HRQoL in this population, as well as the possibility of making comparisons with other studies that use the same questionnaire in other languages.MethodThe cross-cultural adaptation included two forward translations by independent translators, their synthesis, two back-translations by independent translators, an assessment of the versions by an expert committee and the development of a pre-final version, which was tested on 30 caregivers of children (5 -18) with severe cerebral palsy (GMFCS IV & V).ResultsDespite the relative equivalence between the two translations, some items required adaptations for the synthesized version. Certain modifications were necessary in the pre-final version to achieve idiomatic equivalence. The modifications were required to account for the socioeconomic and cultural levels of the target population.ConclusionThe translation and cross-cultural adaptation of the CPCHILD© questionnaire provides a Brazilian Portuguese equivalent to measure the HRQoL of children with severe developmental disabilities, with the potential to measure the benefits of various procedures that are indicated for these patients. This adaptation exhibited a satisfactory level of semantic equivalence between the Portuguese target and the original English source versions. The validity of the Brazilian version of the instrument must be established in the future by assessing its psychometric properties on Brazilian epidemiological samples.

Revisiting the Mosaic of Supports Required for Including People with Severe Intellectual or Developmental Disabilities in their Communities

The goal of this Forum article is to examine the progress that has been made over the past 20 years in providing opportunities for community living, inclusive schooling, and integrated employment to people with severe intellectual or developmental disabilities who rely on Augmentative and Alternative Communication (AAC). Recent research and statistical data from the United States and elsewhere are used to describe both the gains that have been made and the challenges that still remain. Directions for future advocacy and research efforts are also included.

Consanguineous Marriage and Intellectual and Developmental Disabilities among Arab Bedouins Children of the Negev Region in Southern Israel: A Pilot Study

In this article, we present data from two special education schools that serve the Arab Bedouin population in the Negev region in southern Israel. Data were collected on 221 children (53.8% female and 46.2% male) with moderate and severe intellectual and developmental disability (IDD) in order to assess the extent of consanguineous background in these children. Findings showed that 61.5% of all the participants were offspring of parents who were biologically related, both first and second cousins. Almost 70% of the participants were diagnosed with moderate IDD, 20% with severe IDD, and 10% diagnosed with other developmental disorders. It is recommended to further investigate this population for a more detailed history and specific genetic disorders for appropriate genetic counseling for those already married and also to focus public health efforts to decrease the rate of marriages between relatives. Consanguinity is a well-known risk factor for genetic disorders, including diseases and syndromes that present with intellectual and developmental disabilities. This is due to autosomal recessive disorders and also other inherited disorders. The vast majority of the behavioral genetics studies, which for the most part have focused on twins and adoptees (1, 2) have been conducted in highly industrialized western societies such as the United States and Northern European countries. Despite the important and influential research undertaken on the impact of genetics and consanguineous marriage and the extent to which public awareness has been raised by these findings, only a limited number of investigations have been carried out in collective, non-western societies (e.g., Africa, Asia, and the Middle East) and there is scant empirical evidence regarding the genetic influence of consanguineous marriage in these societies. In these societies, consanguineous marriage is a common feature. There is, for example, a long tradition of such marriages in Japan, India, Sudani tribes, and Arab societies (3–8). Consanguineous marriage is also commonplace in the population of about 200,000 Bedouin Arabs living in the Negev desert in the south of Israel. Studies conducted in Indian rural and urban populations showed a higher frequency of consanguineous marriages in rural compared with urban communities (9, 10). One study (11) showed that about 50% of all marriages in the rural population were consanguineous marriages with 52.6% of these consanguineous marriages involving first cousin; whereas, in the urban area, consanguineous marriages accounted for about 30% of the total number of marriages, with 60.9% of these marriages involving first cousin relationships. Research indicates that a large segment of the world population practices certain forms of “inbreeding.” According to Bittles (5), 20–50% of all marriages occur between biologically related people in parts of Central, South, and West Asia and North Africa. The most popular matches are between first cousins, double first cousins (where the spouses share both sets of grandparents), or uncles and nieces. Although less than 1% of marriages are consanguineous in North America and Europe, up to 10% of marriages in East and West Africa and South America are between kin. The percentages could also be high in rapidly growing populations in Middle Africa, the Caribbean, Central America, East Asia, and Southeast Asia, for which no reliable figures exist. Changes in culture and the influence of the Western World also affect the rate of consanguineous marriage resulting in a decrease today (12). Among parents of 14,237 newborns in Bahrain in 2008–2009, the total consanguinity and first cousin marriage rates over a period of 4 months in 2008 were 10.9 and 6.9% respectively; while during all of 2009 the rates were 11.4 and 6.8% respectively (12). Compared with earlier data, first cousin marriage rates in Bahrain declined from 24% to nearly 7% (12).