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Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication
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Green Snyder, LeeAnne; D'Angelo, Debra; Chen, Qixuan; Bernier, Raphael; Goin-Kochel, Robin P.; Wallace, Arianne Stevens; Gerdts, Jennifer; Kanne, Stephen; Berry, Leandra; Blaskey, Lisa; Kuschner, Emily; Roberts, Timothy; Sherr, Elliot; Martin, Christa L.; Ledbetter, David H.; Spiro, John E.; Chung, Wendy K.; Hanson, Ellen – Journal of Autism and Developmental Disorders, 2016
The 16p11.2 duplication (BP4-BP5) is associated with Autism Spectrum Disorder (ASD), although significant heterogeneity exists. Quantitative ASD, behavioral and neuropsychological measures and DSM-IV diagnoses in child and adult carriers were compared with familial non-carrier controls, and to published results from deletion carriers. The 16p11.2…
Descriptors: Pervasive Developmental Disorders, Developmental Disabilities, Psychiatry, Statistical Analysis
Speech Characteristics in the Congenital and Childhood-Onset Forms of Myotonic Dystrophy Type 1
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Sjögreen, Lotta; Mårtensson, Åsa; Ekström, Anne-Berit – International Journal of Language & Communication Disorders, 2018
Background: Myotonic dystrophy type 1 (DM1) is a slowly progressive multi-systemic disease with an autosomal-dominant inheritance caused by a mutation on chromosome 19 (19q13.3). Aims: To explore speech characteristics in a group of individuals with the congenital and childhood-onset forms of DM1 in terms of intelligibility, speech-sound…
Descriptors: Diseases, Muscular Strength, Speech Impairments, Video Technology
Emotion Potentiated Startle in Fragile X Syndrome
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Ballinger, Elizabeth C.; Cordeiro, Lisa; Chavez, Alyssa D.; Hagerman, Randi J.; Hessl, David – Journal of Autism and Developmental Disorders, 2014
Social avoidance and anxiety are prevalent in fragile X syndrome (FXS) and are potentially mediated by the amygdala, a brain region critical for social behavior. Unfortunately, functional brain resonance imaging investigation of the amygdala in FXS is limited by the difficulties experienced by intellectually impaired and anxious participants. We…
Descriptors: Genetic Disorders, Brain Hemisphere Functions, Correlation, Antisocial Behavior
An Indirect Examination of the Function of Problem Behavior Associated with Fragile X Syndrome and Smith-Magenis Syndrome
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Langthorne, Paul; McGill, Peter – Journal of Autism and Developmental Disorders, 2012
Fragile X syndrome (FXS) and Smith-Magenis syndrome (SMS) are associated with a number of specific topographies of problem behavior. Very few studies have examined the function served by problem behavior in these groups. Using the Questions About Behavioral Function scale Matson and Vollmer (User's guide: questions about behavioral function…
Descriptors: Control Groups, Behavior Problems, Mental Retardation, Developmental Disabilities
Comparison of Grammar in Neurodevelopmental Disorders: The Case of Binding in Williams Syndrome and Autism with and without Language Impairment
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Perovic, Alexandra; Modyanova, Nadya; Wexler, Ken – Language Acquisition: A Journal of Developmental Linguistics, 2013
This study investigates whether distinct neurodevelopmental disorders show distinct patterns of impairments in particular grammatical abilities and the relation of those grammatical patterns to general language delays and intellectual disabilities. We studied two disorders (autism and Williams syndrome [WS]) and two distinct properties (Principle…
Descriptors: Grammar, Autism, Language Impairments, Genetic Disorders
Sleep Patterns and Behaviour in Typically Developing Children and Children with Autism, Down Syndrome, Prader-Willi Syndrome and Intellectual Disability
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Cotton, Sue M.; Richdale, Amanda L. – Research in Autism Spectrum Disorders, 2010
Sleep problems have often been reported in children with intellectual disabilities (ID). How anomalies in 24-h sleep patterns relate to behaviour difficulties in children with different types of ID remains to be elucidated. The purpose of this study was to assess 24-h sleep and behaviour patterns in children with a variety disorders including…
Descriptors: Control Groups, Autism, Developmental Disabilities, Down Syndrome