Technological Assistance Institute for Intellectual Disability

Public health qualitative research has largely failed to achieve full inclusion of people with disabilities and Black people and Latinx/as. Although there is a small, but growing, community of academic researchers from each of these communities, there has been limited involvement of non-academic community members in research. While Community-Based Participatory Research (CBPR) has informed the inclusion of marginalized groups in research for decades, instances of full inclusion of disabled Black people and Latinx/as in public health research have been minimal. One way to ensure the inclusion of Black/Latinx community members with disabilities is to involve them as peer researchers. As part of a qualitative study examining pregnancy experiences of individuals with physical disabilities from Black/Latinx communities, academic researchers trained four peer researchers to conduct interviews and analyze the data. This paper describes our approach, which may serve as a model for training peer researchers in qualitative research methodology for future studies. All peer researchers were women who identified as Black or Latina parents with physical disabilities. This approach was chosen due to the study's focus on the intersections of disability, race, ethnicity, and pregnancy, and applied a disability justice lens. Although CBPR offers important principles for research existing literature suggests CBPR is not always inclusive and power sharing. Therefore, we developed a research training model which places a unique and timely focus on the intersections of CBPR, racial and disability justice, the importance of building the capacity of Black and Latina disabled peer researchers, and its importance to building community relationships and trust.

To evaluate an eye tracking task as a predictor and outcome measure of treatment response for autism spectrum disorder (ASD) social skills interventions, adolescents and young adults with ASD completed the eye tracking task before, immediately after, and two months after completingSocial Cognition and Interaction Training for Autism (SCIT-A). The study compared SCIT-A participants (n = 20) to participants with ASD who received treatment as usual (TAU; n = 21). Overall, increased visual attention to faces and background objects and decreased attention to hands playing with toys at baseline were associated with improved social functioning immediately following intervention, suggesting this eye tracking task may reliably predict ASD social intervention outcomes.

Although the life expectancy for the US population has increased, a high proportion of this population has lived with ≥1 chronic conditions. We have quantified the burden of disease associated with 15 chronic conditions and combinations of conditions by estimating quality-adjusted life years (QALYs) for older US adults. Data were from the Medicare Health Outcomes Survey Cohort 15 (baseline survey in 2012, follow-up survey 2014, with mortality follow-up through January 31, 2015). We included individuals aged 65 years and older (n=96,481). We estimated mean QALY throughout the remainder of the lifetime according to the occurrence of these conditions. The age-adjusted QALY was 5.8 years for men and 7.8 years for women. Over 90% respondents reported at least 1 condition and 72% reported multiple conditions. Respondents with depression and congestive heart failure had the lowest age-adjusted QALY (1.1-1.5 y for men and 1.5-2.2 y for women), whereas those with hypertension, arthritis, and sciatica had higher QALY (4.2-5.4 and 6.4-7.2 y, respectively). Having either depression or congestive heart failure and any 1 or 2 of the other 13 conditions was associated with the lowest QALY among the possible dyads and triads of chronic conditions. Dyads and triads with hypertension or arthritis were more prevalent, but had higher QALY. Understanding the burden of disease for common chronic conditions and for combinations of these conditions is useful for delivering high-quality primary care that could be tailored for individuals with combinations of chronic conditions.

Sensitive, reliable measurement instruments are critical for the evaluation of disease progression and new treatments that affect the brain in the mucopolysaccharidoses (MPS). MPS I, II, and III have early onset clinical phenotypes that affect the brain during development and result in devastating cognitive decline and ultimately death without treatment. Comparisons of outcomes are hindered by diverse protocols and approaches to assessment including applicability to international trials necessary in rare diseases. We review both cognitive and adaptive measures with the goal of providing evidence to a Delphi panel to come to a consensus about recommendations for clinical trials for various age groups. The results of the consensus panel are reported in an accompanying article. The following data were gathered (from internet resources and from test manuals) for each measure and summarized in the discussion: reliability, validity, date and adequacy of normative data, applicability of the measure's metrics, cross cultural validity including translations and adaptations, feasibility in the MPS population, familiarity to sites, sensitivity to change, and interpretability. If, resulting from this consensus, standard protocols are used for both natural history and treatment studies, patients, their families, and health care providers will benefit from the ability to compare study outcomes.

Background/Aims: Thyroid disease is a common comorbidity in individuals with Down syndrome (DS), but historical studies have multiple limitations. We assessed thyroid abnormalities in a large cohort of children with DS. Methods: Retrospective records review from a single institution. Calculated prevalence of common thyroid abnormalities and associations with common comorbidities. Results: Among 508 patients, 120 (24%) had a thyroid-related diagnosis, the majority having elevated thyrotropin treated with levothyroxine. A Kaplan-Meier estimate projects that 50% have thyroid disorder by adulthood, with 20% of hypothyroidism diagnosed before the age of 6 months. When tested, approximately 50% had positive antithyroid antibodies, though this rate was 100% in overt hypothyroidism. There was no association between congenital or acquired hypothyroidism and common comorbidities. Conclusion: Thyroid disease in DS is more common and occurs earlier than in the general population, and is often transient. Thyroid disease is unrelated to gender, obesity, or other comorbidities. Apart from overt hypothyroidism, much of hypothyroidism in DS appears unrelated to autoimmunity; we recommend checking of antithyroid antibodies only in select cases. An additional screen for thyroid disease between the newborn screen and the 6-month well-child visit will detect early cases of hypothyroidism who passed their newborn screen.

Isela is an 11-year-old Mexican-American girl with mild intellectual disability. During a vacation with her family, she went swimming with dolphins. A few days later, Isela awoke at night with laughing spells; during the day, she was pacing, aggressive, and had a decline in self-care and communication skills. Her parents attributed the symptoms to the dolphins. She was evaluated by a pediatric neurologist. The sleep-deprived electroencephalogram, brain magnetic resonance imaging, lumbar puncture, and thyroid function tests were normal. A genomic microarray was sent. The neurologist initiated empirical therapy for seizures with lamotrigine, which caused a rash. It was discontinued. She was then treated with oxcarbazepine followed by topiramate for several months without any change in symptoms. Comparative genomic hybridization revealed a small deletion at 14q13.1, which includes the NPAS3 gene. Psychiatry was consulted after several months of persistent symptoms. Isela seemed to be laughing in response to internal stimuli. Owing to the decline in communication and her apparent preoccupation with visual and auditory internal stimuli, Isela could not be interviewed adequately to confirm that she was experiencing hallucinations, but her laughter seemed to be in response to hallucinations. Isela was diagnosed with disorganized schizophrenia with psychosis. Risperidone was prescribed.A psychology evaluation was completed a few months later. Parents noted significant improvement after starting risperidone with reduced inappropriate laughing spells, reduced pacing, as well as improved eating, sleeping, communication, and self-care. Cognitive assessment with the Wechsler Abbreviated Scale of Intelligence-II indicated the following: verbal estimated intelligence quotient (IQ) = 70, perceptual estimated IQ = 71, and full-scale estimated IQ = 68. There was no cognitive decline compared with testing at school 4 years previously. Although psychotic symptoms were significantly improved on antipsychotic medication and function appeared to have been restored to her previous level, her parents continued to perceive a significant decline of functioning, and they continued to attribute the psychosis to swimming with the dolphins.

Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic disorder characterized by cholesterol synthesis impairment. A host of physical, developmental, and behavioral presentations are associated with SLOS, many of which have been related with disorder severity. Sleep disturbance is commonly reported in SLOS. This study is the first to examine the association between sleep disturbance and biomarkers of cholesterol synthesis defect. Twenty youth with SLOS participated. Biomarkers of cholesterol synthesis were obtained, including plasma sterols (i.e., 7-dehydrocholesterol, 8-dehydrocholesterol, and cholesterol), mevalonic acid, and 24-S hydroxycholsterol. A ratio of plasma cholesterol precursors to cholesterol levels was used as a measure of biochemical severity. Parents reported their children's sleep problems using the Children's Sleep Habits Questionnaire. Most markers of cholesterol synthesis disruption were associated with overall sleep disturbance. Biochemical severity of SLOS was also associated with specific sleep problems (e.g., decreased sleep duration and increased sleep onset delay) and was identified as a significant predictor of these factors. This study is the first to demonstrate associative relationships between cholesterol levels and sleep disturbance in youth with SLOS. These results add to the current understanding of how cholesterol levels may contribute to the behavioral phenotype of SLOS. These findings may inform future studies related to the role cholesterol synthesis defects play in the behavioral phenotype of SLOS and, subsequently, modalities of intervention for behavioral symptoms.

Qualitative and quantitative methodologies were used to investigate the barriers minority families encountered as their adolescent youth with disabilities move into adulthood and to identify what issues or goals are most important to families during this time of transition. The qualitative study consisted of focus groups or interviews with adolescents and their family members from Native American, African American and Hispanic communities. The transcripts were coded by a multicultural research team. The analysis of the coding revealed seven key themes: (a) insensitivity/discrimination; (b) lack of accommodations; (c) unresponsive services/supports; (d) typical adolescent issues; (e) contextual barriers; (f) desire for optimum capability and (g) the importance of family and family values. A survey designed to corroborate the findings of the qualitative study was completed by 308 African American, Hispanic, Native American and Euro-American parents who rated the extent to which certain barriers, experiences or issues around transition were true for their child. The quantitative results were generally consistent with the qualitative findings, suggesting that minority adolescents, overall, appear to encounter greater barriers to transition than do their nonminority peers.