Autism Spectrum Disorder in Males with Sex Chromosome Aneuploidy: XXY/Klinefelter Syndrome, XYY, and XXYY.

OBJECTIVE: Neurodevelopmental concerns in males with sex chromosome aneuploidy (SCA) (XXY/Klinefelter syndrome, XYY, XXYY) include symptoms seen in autism spectrum disorder (ASD), such as language impairments and social difficulties. We aimed to: (1) evaluate ASD characteristics in research cohorts of SCA males under DSM-IV compared to DSM-5 criteria, and (2) analyze factors associated with ASD diagnoses in SCA. METHODS: Evaluation of participants with XXY/KS (n=20), XYY (n=57) and XXYY (n=21) included medical history, cognitive/adaptive testing, Social Communication Questionnaire, Social Responsiveness Scale, Autism Diagnostic Observation Schedule, Autism Diagnostic Interview-Revised, and DSM ASD criteria. Clinical impressions of ASD diagnostic category using the ADOS and DSM-IV criteria were compared to ADOS-2 and DSM-5 criteria. T-tests compared cognitive, adaptive, SES and prenatal vs. postnatal diagnoses between ASD and no ASD groups. RESULTS: ASD rates in these research cohorts were 10% in XXY/KS, 38% in XYY, and 52% in XXYY using ADOS-2/DSM-5, and were not statistically different compared to DSM-IV criteria. In XYY and XXYY, the ASD group had lower verbal IQ and adaptive functioning compared to those without ASD. Many children without ASD still showed some social difficulties. CONCLUSION: ASD rates in males with SCA are higher than reported for the general population. Males with Y chromosome aneuploidy (XYY and XXYY) were 4.8 times more likely to have a diagnosis of ASD than the XXY/KS group, and 20 times more likely than males in the general population (1 in 42 males, CDC 2010). ASD should be considered when evaluating social difficulties in SCA. Studies of SCA and Y-chromosome genes may provide insight into male predominance in idiopathic ASD.

Consideration of Insulin Pumps or Continuous Glucose Monitors by Adolescents With Type 1 Diabetes and Their Parents: Stakeholder Engagement in the Design of Web-Based Decision Aids.

PURPOSE: This article describes the stakeholder-driven design, development, and testing of web-based, multimedia decision aids for youth with type 1 diabetes who are considering the insulin pump or continuous glucose monitoring and their parents. This is the initial phase of work designed to develop and evaluate the efficacy of these decision aids in promoting improved decision-making engagement with use of a selected device. METHODS: Qualitative interviews of 36 parents and adolescents who had previously faced these decisions and 12 health care providers defined the content, format and structure of the decision aids. Experts in children's health media helped the research team to plan, create, and refine multimedia content and its presentation. A web development firm helped organize the content into a user-friendly interface and enabled tracking of decision aid utilization. Throughout, members of the research team, adolescents, parents, and 3 expert consultants offered perspectives about the website content, structure, and function until the design was complete. RESULTS: With the decision aid websites completed, the next phase of the project is a randomized controlled trial of usual clinical practice alone or augmented by use of the decision aid websites. CONCLUSIONS: Stakeholder-driven development of multimedia, web-based decision aids requires meticulous attention to detail but can yield exceptional resources for adolescents and parents contemplating major changes to their diabetes regimens.