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Direct linkTess Levy; Cristan Farmer; Siddharth Srivastava; Kristina Johnson; Jadyn Trayvick; Camille Brune; Alexandra Massa; Hailey Silver; Paige M. Siper; Jessica Zweifach; Danielle Halpern; Jennifer H. Foss-Feig; Jonathan A. Bernstein; Elizabeth Berry-Kravis; Craig M. Powell; Mustafa Sahin; Latha Valluripalli Soorya; Audrey Thurm; Joseph D. Buxbaum; Alexander Kolevzon – American Journal on Intellectual and Developmental Disabilities, 2025
The clinical spectrum of Phelan-McDermid syndrome (PMS) is varied, with wide-ranging degrees of intellectual disability, developmental delays, behavioral abnormalities, and medical features. Different types of genetic variation lead to PMS, and differing genotypes (e.g., size of deletion or type of variant) account for some of this variability,…
Descriptors: Genetics, Genetic Disorders, Intellectual Disability, Developmental Delays
Heather Coleman; Arlene Mannion; Sally Whelan; Megan Tones; Helen Heussler; Matthew Bellgard; Geraldine Leader – Journal of Autism and Developmental Disorders, 2025
Angelman Syndrome (AS) is a rare genetic disorder that impacts 1:20,000 people. Challenging behaviour, such as severe injurious behaviour, aggression and frequent unprovoked episodes of laughter are a significant problem among adults with AS that adversely impacts an individual's quality of life. This study, for the first time, aims understand the…
Descriptors: Genetic Disorders, Behavior Disorders, Adults, Predictor Variables
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)
Daniel A. Geller; Mia Grossman – Journal of Attention Disorders, 2024
Objective: To use a family genetic study to evaluate familial risk of obsessive compulsive disorder (OCD) and common comorbid illnesses in first-degree relatives of pediatric-onset probands with primary OCD. Method: One hundred and thirty youth with OCD and their 133 siblings and 241 parents and 49 pediatric controls were directly evaluated along…
Descriptors: Heredity, Anxiety Disorders, Comorbidity, Child Health
Zuhal Koc Apaydin; Meryem Kasak; Ozlem Karakaya; Hakan Ogutlu; Mustafa Ugurlu; Fiona McNicholas – Journal of Attention Disorders, 2025
Objective: This study aimed to investigate the relationship between Cognitive Disengagement Syndrome (CDS) symptoms in children/adolescents and their parents within the Turkish population, examining the association with co-occurring ADHD symptoms, peer/social relationships, and total difficulties. Method: The study included 229 parents aged 18 to…
Descriptors: Children, Adolescents, Parents, Symptoms (Individual Disorders)
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
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
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
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
Gow, Joan-Beth; Carpino, Lisa A. – Journal of College Science Teaching, 2018
Anorexia nervosa is a complex behavioral disorder with the highest risk of death of any psychological disorder. Between 15% and 20% of those suffering from anorexia die from complications that are attributed either directly or indirectly to self-starvation. Heritability for anorexia is around 0.5, meaning about 50% of the risk for anorexia is…
Descriptors: Case Studies, Interdisciplinary Approach, Behavior Disorders, Eating Disorders
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
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)
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
Silberg, Judy L.; Maes, Hermine; Eaves, Lindon J. – Journal of Child Psychology and Psychiatry, 2012
Background: A critical issue in devising effective interventions for the treatment of children's behavioral and emotional problems identifying genuine family environmental factors that place children at risk. In most twin and family studies, environmental factors are confounded with both direct genetic risk from parents and the indirect effect of…
Descriptors: Emotional Problems, Twins, Parent Influence, Hyperactivity
Mathews, Carol A.; Grados, Marco A. – Journal of the American Academy of Child & Adolescent Psychiatry, 2011
Objective: Tourette syndrome (TS) is a neuropsychiatric disorder with a genetic component that is highly comorbid with obsessive-compulsive disorder (OCD) and attention deficit/hyperactivity disorder (ADHD). However, the genetic relations between these disorders have not been clearly elucidated. This study examined the familial relations among TS,…
Descriptors: Attention Deficit Hyperactivity Disorder, Anxiety Disorders, Genetics, Neurological Impairments
