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Behavioral Phenotypes and Comorbidity in 3q29 Deletion Syndrome: Results from the 3q29 Registry
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Rebecca M. Pollak; Michael Mortillo; Melissa M. Murphy; Jennifer G. Mulle – Journal of Autism and Developmental Disorders, 2025
3q29 deletion syndrome (3q29del) is associated with a significantly increased risk for neurodevelopmental and neuropsychiatric disorders. However, the full spectrum of behavioral phenotypes associated with 3q29del is still evolving. Individuals with 3q29del (n = 96, 60.42% male) or their guardian completed the Achenbach Child or Adult Behavior…
Descriptors: Genetic Disorders, Neurodevelopmental Disorders, Behavior Disorders, Symptoms (Individual Disorders)
The Profiles and Correlates of Psychopathology in Adolescents and Adults with Williams, Fragile X and Prader-Willi Syndromes
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Royston, R.; Oliver, C.; Howlin, P.; Dosse, A.; Armitage, P.; Moss, J.; Waite, J. – Journal of Autism and Developmental Disorders, 2020
Psychopathology is prevalent in Williams (WS), fragile X (FXS) and Prader-Willi (PWS) syndromes. However, little is known about the potential correlates of psychopathology in these groups. A questionnaire study was completed by 111 caregivers of individuals with WS (n = 35); FXS (n = 50) and PWS (n = 26). Mean age was 26 years (range 12-57 years);…
Descriptors: Psychopathology, Genetic Disorders, Correlation, Predictor Variables
Brief Report: Challenging Behaviors in Toddlers and Preschoolers with Angelman, Prader-Willi, and Williams Syndromes
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Neo, Wei Siong; Tonnsen, Bridgette L. – Journal of Autism and Developmental Disorders, 2019
Children with neurogenetic syndromes (NGS) experience comorbid challenging behaviors and psychopathology. We examined challenging behaviors in 86 toddlers and preschoolers across three NGS [Angelman syndrome (AS), Prader--Willi syndrome (PWS), and Williams syndrome (WS)] and 43 low-risk controls (LRC), using the Child Behavior Checklist for Ages…
Descriptors: Autism, Pervasive Developmental Disorders, Behavior Disorders, Psychopathology
Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome
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Thomason, Molly Mishler; McCarthy, John; Goin-Kochel, Robin P.; Dowell, Lauren R.; Schaaf, Christian P.; Berry, Leandra N. – Journal of Autism and Developmental Disorders, 2020
Truncating variants of the "MAGEL2" gene, one of the protein-coding genes within the Prader-Willi syndrome (PWS) critical region on chromosome 15q11, cause Schaaf-Yang syndrome (SYS)--a neurodevelopmental disorder that shares several clinical features with PWS. The current study sought to characterize the neurobehavioral phenotype of SYS…
Descriptors: Genetic Disorders, Neurological Impairments, Developmental Disabilities, Cognitive Ability
DNA Methylation of the Oxytocin Receptor across Neurodevelopmental Disorders
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Siu, Michelle T.; Goodman, Sarah J.; Yellan, Isaac; Butcher, Darci T.; Jangjoo, Maryam; Grafodatskaya, Daria; Rajendram, Rageen; Lou, Youliang; Zhang, Rujun; Zhao, Chunhua; Nicolson, Rob; Georgiades, Stelios; Szatmari, Peter; Scherer, Stephen W.; Roberts, Wendy; Anagnostou, Evdokia; Weksberg, Rosanna – Journal of Autism and Developmental Disorders, 2021
Many neurodevelopmental disorders (NDDs) share common learning and behavioural impairments, as well as features such as dysregulation of the oxytocin hormone. Here, we examined DNA methylation (DNAm) in the 1st intron of the oxytocin receptor gene, "OXTR," in patients with autism spectrum (ASD), attention deficit and hyperactivity (ADHD)…
Descriptors: Genetics, Autism, Pervasive Developmental Disorders, Biochemistry
Diverse Profiles of Anxiety Related Disorders in Fragile X, Cornelia de Lange and Rubinstein-Taybi Syndromes
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Crawford, Hayley; Waite, Jane; Oliver, Chris – Journal of Autism and Developmental Disorders, 2017
Anxiety disorders are heightened in specific genetic syndromes in comparison to intellectual disability of heterogeneous aetiology. In this study, we described and contrasted anxiety symptomatology in fragile X (FXS), Cornelia de Lange (CdLS) and Rubinstein-Taybi syndromes (RTS), and compared the symptomatology to normative data for…
Descriptors: Anxiety Disorders, Intellectual Disability, Symptoms (Individual Disorders), Scores
Maternal Interactive Behaviours in Parenting Children with Williams Syndrome and Autism Spectrum Disorder: Relations with Emotional/Behavioural Problems
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Baptista, Joana; Sampaio, Adriana; Fachada, Inês; Osório, Ana; Mesquita, Ana R.; Garayzabal, Elena; Duque, Frederico; Oliveira, Guiomar; Soares, Isabel – Journal of Autism and Developmental Disorders, 2019
This study compared maternal responsiveness to children with two neurodevelopmental disorders sharing different but, in some cases, overlapping social phenotypes--Williams syndrome (WS) and autism spectrum disorder (ASD)--and explored the relations between maternal responsiveness and child emotional/behavioural problems (EBP). The sample included…
Descriptors: Mothers, Mother Attitudes, Child Rearing, Preschool Children
Symptoms of Autism Spectrum Disorder (ASD) in Individuals with Mucopolysaccharide Disease Type III (Sanfilippo Syndrome): A Systematic Review
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Wolfenden, C.; Wittkowski, A.; Hare, D. J. – Journal of Autism and Developmental Disorders, 2017
The prevalence of autism spectrum disorder (ASD) in many genetic disorders is well documented but not as yet in Mucopolysaccharidosis type III (MPS III). MPS III is a recessively inherited metabolic disorder and evidence suggests that symptoms of ASD present in MPS III. This systematic review examined the extant literature on the symptoms of ASD…
Descriptors: Autism, Pervasive Developmental Disorders, Genetic Disorders, Symptoms (Individual Disorders)
Brief Report: Glutamate Transporter Gene ("SLC1A1") Single Nucleotide Polymorphism (rs301430) and Repetitive Behaviors and Anxiety in Children with Autism Spectrum Disorder
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Gadow, Kenneth D.; Roohi, Jasmin; DeVincent, Carla J.; Kirsch, Sarah; Hatchwell, Eli – Journal of Autism and Developmental Disorders, 2010
Investigated association of single nucleotide polymorphism (SNP) rs301430 in glutamate transporter gene ("SLC1A1") with severity of repetitive behaviors (obsessive-compulsive behaviors, tics) and anxiety in children with autism spectrum disorder (ASD). Mothers and/or teachers completed a validated DSM-IV-referenced rating scale for 67 children…
Descriptors: Autism, Rating Scales, Severity (of Disability), Anxiety
Classification of Behaviorally Defined Disorders: Biology versus the DSM
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Rapin, Isabelle – Journal of Autism and Developmental Disorders, 2014
Three levels of investigation underlie all biologically based attempts at classification of behaviorally defined developmental and psychiatric disorders: Level A, pseudo-categorical classification of mostly dimensional descriptions of behaviors and their disorders included in the 2013 American Psychiatric Association's Fifth Edition of the…
Descriptors: Classification, Developmental Disabilities, Mental Disorders, Behavior Disorders
Autism Symptoms in Attention-Deficit/Hyperactivity Disorder: A Familial Trait which Correlates with Conduct, Oppositional Defiant, Language and Motor Disorders
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Mulligan, Aisling; Anney, Richard J. L; O'Regan, Myra; Chen, Wai; Butler, Louise; Fitzgerald, Michael; Buitelaar, Jan; Steinhausen, Hans-Christoph; Rothenberger, Aribert; Minderaa, Ruud; Nijmeijer, Judith; Hoekstra, Pieter J.; Oades, Robert D.; Roeyers, Herbert; Buschgens, Cathelijne; Christiansen, Hanna; Franke, Barbara; Gabriels, Isabel; Hartman, Catharina; Kuntsi, Jonna; Marco, Rafaela; Meidad, Sheera; Mueller, Ueli; Psychogiou, Lamprini; Rommelse, Nanda; Thompson, Margaret; Uebel, Henrik; Banaschewski, Tobias; Ebstein, Richard; Eisenberg, Jacques; Manor, Iris; Miranda, Ana; Mulas, Fernando; Sergeant, Joseph; Sonuga-Barke, Edmund; Asherson, Phil; Faraone, Stephen V.; Gill, Michael – Journal of Autism and Developmental Disorders, 2009
It is hypothesised that autism symptoms are present in Attention-Deficit/Hyperactivity Disorder (ADHD), are familial and index subtypes of ADHD. Autism symptoms were compared in 821 ADHD probands, 1050 siblings and 149 controls. Shared familiality of autism symptoms and ADHD was calculated using DeFries-Fulker analysis. Autism symptoms were higher…
Descriptors: Siblings, Autism, Hyperactivity, Attention Deficit Disorders
Self-Injury in Lesch-Nyhan Disease.
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Anderson, Lowell T.; Ernst, Monique – Journal of Autism and Developmental Disorders, 1994
Questionnaires completed by parents of 40 patients with Lesch-Nyhan disease provide information on developmental history, life course, management, medication, variability, and topography of self-injury. Analysis indicated that patients could not inhibit self-injury but could predict it and request restraints; self-injury was strongly related to…
Descriptors: Aggression, Behavior Disorders, Behavior Modification, Congenital Impairments