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Direct linkAbbeduto, Leonard; Thurman, Angela John; McDuffie, Andrea; Klusek, Jessica; Feigles, Robyn Tempero; Ted Brown, W.; Harvey, Danielle J.; Adayev, Tatyana; LaFauci, Giuseppe; Dobkins, Carl; Roberts, Jane E. – Journal of Autism and Developmental Disorders, 2019
Many males with FXS meet criteria for ASD. This study was designed to (1) describe ASD symptoms in adolescent and young adult males with FXS (n = 44) and (2) evaluate the contributions to ASD severity of cognitive, language, and psychiatric factors, as well as FMRP (the protein deficient in FXS). A few ASD symptoms on the ADOS-2 were universal in…
Descriptors: Males, Genetic Disorders, Autism, Pervasive Developmental Disorders
Thurman, Angela John; McDuffie, Andrea; Kover, Sara T.; Hagerman, Randi J.; Abbeduto, Leonard – Journal of Autism and Developmental Disorders, 2015
Although males with fragile X syndrome (FXS) are frequently described as demonstrating autism symptomatology, there is much debate regarding whether the behavioral symptoms representing the core domains of autism are the result of the same or different underlying neurological/psychological mechanisms. The present study used a cross-sectional…
Descriptors: Males, Genetic Disorders, Autism, Pervasive Developmental Disorders
Malenfant, Patrick; Liu, Xudong; Hudson, Melissa L.; Qiao, Ying; Hrynchak, Monica; Riendeau, Noemie; Hildebrand, M. Jeannette; Cohen, Ira L.; Chudley, Albert E.; Forster-Gibson, Cynthia; Mickelson, Elizabeth C. R.; Rajcan-Separovic, Evica; Lewis, M. E. Suzanne; Holden, Jeanette J. A. – Journal of Autism and Developmental Disorders, 2012
Duplications of 7q11.23, deleted in Williams-Beuren Syndrome, have been implicated in autism spectrum disorders (ASDs). A 1.5 Mb duplication was identified in one girl with severe expressive language deficits and anxiety among 1,142 ASD individuals screened for this duplication. Family-based association studies of Tag-SNPs in three genes ("STX1A,"…
Descriptors: Autism, Interpersonal Relationship, Interaction, Etiology
Buckley, Sue – Down Syndrome Research and Practice, 2008
In recent years there has been much research interest in looking for behavioural phenotypes (or specific profiles of strengths and weaknesses) that are associated with specific conditions--particularly conditions with genetic origins such as Down syndrome. This kind of information may be very helpful in alerting parents and professionals to the…
Descriptors: Child Behavior, Down Syndrome, Genetic Disorders, Behavior Problems
