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Single-nucleotide polymorphism (SNP) microarrays can easily identify whole-chromosome isodisomy but are unable to detect whole-chromosome heterodisomy. However, most cases of uniparental disomy (UPD) involve combinations of heterodisomy and isodisomy, visualized on SNP microarrays as long continuous stretches of homozygosity (LCSH). LCSH raise suspicion for, but are not diagnostic of, UPD, and reporting necessitates confirmatory testing. The goal of this study was to define optimal LCSH reporting standards. Eighty-nine individuals with known UPD were analyzed using chromosomal microarray. The LCSH patterns were compared with those in a phenotypically normal population to predict the clinical impact of various reporting thresholds. False-positive and -negative rates were calculated at various LCSH thresholds. Twenty-seven of 84 cases with UPD had no significant LCSH on the involved chromosome. Fifty UPD-positive samples had LCSH of varying sizes: the average size of terminal LCSH was 11.0 megabases while the average size of interstitial LCSH was 24.1 megabases. LCSH in the normal population tended to be much smaller (average 4.3 megabases) and almost exclusively interstitial; however, overlap between the populations was noted. We hope that this work will aid clinical laboratories in the recognition and reporting of LCSH.

Caregivers and siblings of youth with mental illness often experience role-related psychological challenges, and it is important to focus on the needs of these family members. Existing literature demonstrates that caregivers and affected children benefit from participation in peer support and family-centered programs. This paper describes the Sibling Support Program: A Family-Centered Mental Health Initiative (SSP), a novel intervention for families of youth with mental illness. The SSP distinguishes itself from existing family-centered programs in that it utilizes a unique combination of peer support, parent mentor guidance, and clinician-led group therapy. The paper details the structure of the treatment model and presents preliminary data from participant surveys. Results show preliminary indications that the program provides both emotional and practical benefits. Along with high satisfaction ratings, family members report decreased feelings of isolation, gains in knowledge, and more positive thinking after program participation. Caregivers report that the SSP helped improve their understanding about the impact of a child’s mental illness on family members, and that they learned about effective family management strategies and access to resources. Siblings report learning coping strategies and feeling better after meeting peers with shared experiences.

Children with developmental disabilities have greater exposure to social factors that can adversely affect health, deemed “social determinants of health”, and have poorer health outcomes than children without these disabilities. While health outcomes can be related to the etiology of a child’s disability, recent studies suggest 20-50% of their poorer mental and physical health outcomes are due to adverse social determinants. Due to the nature of developmental disabilities, these children are hypothesized to be more susceptible to adverse social determinants and to have lower innate resilience-related skills and resources. This dissertation examined children with developmental disabilities and their families regarding how they are exposed to social determinants of health across three levels– structural, intermediary, and proximal. It then examined how health-related outcomes were associated with these exposures, how frequently children with developmental disabilities and their families have potential mitigating resources and skills, and whether the presence of these factors changes the association between social determinants and health-related outcomes. I analyzed two years (2018-2019) of data from the U.S. National Survey of Children’s Health. Children with developmental disabilities had greater odds of exposure to adverse social determinants of health across multiple domains, and substantially worse mental and behavioral health outcomes and greater unmet medical needs than children without developmental disabilities. These outcomes were strongly associated with exposures to adverse social determinants of health. While social determinants across all three levels were significantly associated with these adverse outcomes, factors that affect the child’s family stability and function and their relationship with their parents were among those most strongly associated with poor mental and behavioral health outcomes and unmet medical needs in multivariable models. Children with developmental disabilities had significantly lower levels of resilience resources, and these resources were less effective in mitigating the association between adverse social determinants of health and poor mental and behavioral health outcomes and unmet medical needs than for children without developmental disabilities. This study contributes valuable evidence at the national level that may better enable public policy, public health programs and social and health-related service systems in mitigating adverse health outcomes for children with of developmental disabilities.

Based on a talk given at the Symposium in honor of Dr. Greetham’s retirement, this essay addresses the influence Greetham has had on the author’s scholarship and pedagogy. Lauer describes a project she completed as Greetham’s student in which she analyzed the illustration history of the book Alice’s Adventures in Wonderland. She argues that the history of a text’s illustration can be read as a history of publishing intent: just as different annotations suit a text for a particular implied readership, so too do different illustrations. The illustrators of Alice come after each other, not to re-envision the words of Lewis Carroll, but to re-envision the scenes as already represented pictorially. Furthermore, Lauer posits that the creation of different illustrated editions is part of the historical trajectory of versioning. As Greetham says of annotation, illustration, too, is “always contingent and local, for the relationship between text and audience is always changing” (1994, 369).

ObjectivesData on non-fatal injuries and visits to the emergency department (ED) for injuries are not readily available. The objective of this paper is to describe injury-related ED visits for people with intellectual and developmental disabilities who are covered by the Medicaid insurance programme.MethodsWe aggregated 2010–2016 Medicaid claims data from eight states. Using these data, we identified individuals with intellectual and developmental disabilities and then determined an all-cause ED visit rate, ED visit due to injury rate and admission from ED due to injury rate. Data were stratified by sex and age group. Results were compared with national rates.ResultsMedicaid members with intellectual and developmental disabilities visited EDs at approximately 1.8 times the rate of the general population. The ED visit rate due to injury was approximately 1.5 times that observed in the population overall. When ED visits due to injury data were stratified by age and sex, the largest discrepancy was observed in women ages 45–64, who visited EDs due to injury at a rate 2.1 times that of women of the same age in the general population. The admission rate from ED due to injury increased over the study period most notably in the older age groups.ConclusionsWhile rates and patterns of ED utilisation among Medicaid members with intellectual and developmental disabilities vary by age and gender, our findings suggest this group visits the ED due to injury at rates well above the general population.

This project sought to identify Medicaid members with intellectual and developmental disabilities (IDD) in five states (Delaware, Iowa, Massachusetts, New York, and South Carolina) to develop a cohort for subsequent analyses of medical conditions and service utilization. We estimated that over 300,000 Medicaid members in these states had IDD. All members with diagnostic codes for IDD were identified and the three most frequent diagnoses were unspecified intellectual disability, autism or pervasive developmental disorder, and cerebral palsy. The percentage of Medicaid members with IDD ranged from 2.3% in New York to 4.2% in South Carolina. Identifying and characterizing people with IDD is a first step that could guide public health promotion efforts for this population.

Based on a talk given at the Symposium in honor of Dr. Greetham’s retirement, this essay addresses the influence Greetham has had on the author’s scholarship and pedagogy. Lauer describes a project she completed as Greetham’s student in which she analyzed the illustration history of the book Alice’s Adventures in Wonderland. She argues that the history of a text’s illustration can be read as a history of publishing intent: just as different annotations suit a text for a particular implied readership, so too do different illustrations. The illustrators of Alice come after each other, not to re-envision the words of Lewis Carroll, but to re-envision the scenes as already represented pictorially. Furthermore, Lauer posits that the creation of different illustrated editions is part of the historical trajectory of versioning. As Greetham says of annotation, illustration, too, is “always contingent and local, for the relationship between text and audience is always changing” (1994, 369).