Copy number variation in a follow-up of adults with ASD: a behavioral phenotype-genotype study

posterAutistic Spectrum Disorders (ASD) are a set of complex, early-onset neurodevelopmental disorders. Recent studies have revealed a complex genetic landscape for ASD, with many potential genes involved. Little is known about the long-term outcome of individuals with ASD who were diagnosed in childhood, and no studies to date have examined genetic correlates of their level of functioning as adults. Copy number variation appears to play an important role in ASD. An increasing number of studies have identified both inherited and de novo copy number variants in ASDs (see Cook & Scherer, 2008 for review). Microarray technology is providing the opportunity for discovery of deletions and insertions across the genome. Here we present an initial exploratory evaluation of copy number variation (CNV) in an ongoing follow-up study of adults with ASD

Gender differences in ADHD adults during clinical trials with atomoxetine

posterIntroduction: Patients with ADHD exhibit several consistent gender differences, a male preponderance and more males with externalizing disorders (conduct and oppositional defiant disorder). Objective: To examine gender differences in a very large clinical trial of adults with ADHD. Methods: Data from two identical placebo-controlled studies of atomoxetine in adult ADHD using 535 subjects at 31 sites were combined1. The studies lasted 8 weeks and both showed positive medication-placebo differences. Most current Axis-I diagnoses were exclusionary criteria. Results: The male/female ratio of this self-referred population was 2.4:1, lower than in child studies2. In contrast to a predominance of an inattentive ADHD diagnosis subtype in female children, these adult females were more frequently combined type versus the males. Females were rated as more impaired on every measure of ADHD symptoms including total CAARS-INV, total WRAADDS3, and subscales of both measures. Females were rated as having more emotional symptoms on the WRAADDS emotional dimension, lifetime SCID-P psychiatric diagnoses, HAM-A, and HAM-D. Females exhibited significantly greater improvement on the WRAADDS emotional dimension but not on similar items in the Psychological Well-Being Scale. There were no significant gender by treatment effects in the CAARS-INV or CGI-S scores. Conclusion: These females with ADHD displayed significantly greater ADHD symptoms and emotional impairment on multiple measures. On the WRAADDS emotional dimension they responded better to treatment, than their male counterparts. Past research shows that ADHD is much more common in males particularly in pediatric samples. Children exhibit few gender differences on a consistent basis except in the area of associated symptoms. The present study addresses whether ADHD adults displayed gender differences at screening or in treatment response using data from the largest studies ever conducted in ADHD adults

Whole Exome Sequencing Reveals the Genetic Basis of a Case of Idiopathic Hemolytic Anemia and Suggests Candidate Rare Variants for ADHD in a Utah Pedigree

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