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Direct linkAllen, Caitlin G.; Green, Ridgely Fisk; Dowling, Nicole F.; Fairley, Temeika L.; Khoury, Muin J. – Health Education & Behavior, 2023
Problem Addressed: To better understand the factors associated with family cancer history (FCH) information and cancer information seeking, we model the process an individual undergoes when assessing whether to gather FCH and seek cancer information and compare models by sociodemographics and family history of cancer. We used cross-sectional data…
Descriptors: Cancer, Heredity, Genetic Disorders, Information Seeking
Chisholm, Anita K.; Lami, Francesca; Haebich, Kristina M.; Ure, Alex; Brignell, Amanda; Maloof, Tiba; Pride, Natalie A.; Walsh, Karin S.; Maier, Alice; Rouel, Melissa; Granader, Yael; Barton, Belinda; Darke, Hayley; Fuelscher, Ian; Dabscheck, Gabriel; Anderson, Vicki A.; Williams, Katrina; North, Kathryn N.; Payne, Jonathan M. – Journal of Autism and Developmental Disorders, 2023
This study investigated sex and age differences in autistic behaviours in children with neurofibromatosis type 1 (NF1) who scored within the clinical range on the Social Responsiveness Scale - Second Edition (T score [greater than or equal to] 60). Thirty-four males and 28 females (3-16 years) were assessed with the Autism Diagnostic Observation…
Descriptors: Gender Differences, Age Differences, Autism Spectrum Disorders, Symptoms (Individual Disorders)
Hirano, Daisuke; Goto, Yoshinobu; Shoji, Hiroaki; Taniguchi, Takamichi – Journal of Applied Research in Intellectual Disabilities, 2022
Background: We investigated how many individuals with Rett syndrome were undergoing interventions to reduce stereotypic hand movements and the factors determining the presence or absence of an intervention. Method: A questionnaire was sent to 194 families. Each survey item was compared between the intervention and non-intervention groups according…
Descriptors: Genetic Disorders, Behavior Problems, Intervention, Age Differences
Chloe Austerberry; Pasco Fearon; Angelica Ronald; Leslie D. Leve; Jody M. Ganiban; Misaki N. Natsuaki; Daniel S. Shaw; Jenae M. Neiderhiser; David Reiss – Child Development, 2024
This study examined gene-environment correlation (rGE) in intellectual and academic development in 561 U.S.-based adoptees (57% male; 56% non-Latinx White, 19% multiracial, 13% Black or African American, 11% Latinx) and their birth and adoptive parents between 2003 and 2017. Birth mother intellectual and academic performance predicted adoptive…
Descriptors: Genetic Disorders, Adoption, Mothers, Cognitive Ability
Perreault, Melanie; Haibach-Beach, Pamela; Lieberman, Lauren; Foster, Elizabeth – Research and Practice for Persons with Severe Disabilities, 2021
Children with Coloboma, Heart defects, Atresia choanae, Restricted growth, Genital hypoplasia, and Ear abnormalities (CHARGE) syndrome have many sensory impairments that can cause delays in motor development impacting physical activity, health, and quality of life. However, only one limited study has investigated motor competence in children with…
Descriptors: Genetic Disorders, Psychomotor Skills, Physical Disabilities, Age Differences
Ave M. Lachiewicz; Tracy M. Stackhouse; Kristin Burgess; Debra Burgess; Howard F. Andrews; Tse-Hwei Choo; Walter E. Kaufmann; Sharon A. Kidd – Journal of Autism and Developmental Disorders, 2024
This study was designed to increase our understanding about characteristics and the impact of sensory symptoms (SS) and signs of hyperarousal (HA) in individuals with fragile X syndrome (FXS) from childhood through early adulthood and by gender. Data derived from the Fragile X Online Registry With Accessible Research Database (FORWARD), a natural…
Descriptors: Sensory Experience, Symptoms (Individual Disorders), Genetic Disorders, Arousal Patterns
Magdalena Glod; Deborah M. Riby; Jacqui Rodgers – Review Journal of Autism and Developmental Disorders, 2020
To date, little is known about sensory processing in Williams syndrome (WS) and the similarities of the sensory profile in individuals with WS compared to people with other neurodevelopmental disorders. The current review aims to consolidate available evidence on sensory processing in WS. Eighteen primary studies investigating sensory processing…
Descriptors: Genetic Disorders, Developmental Disabilities, Perceptual Impairments, Age Differences
Block, Elisa; Farran, Emily K.; Van Herwegen, Jo – American Journal on Intellectual and Developmental Disabilities, 2022
The block design task (BDT) is a visuospatial measure that individuals with Williams syndrome (WS) perform poorly on. However, it is unclear what underlies their impaired performance. This study investigated whether poorer performance is a result of visuospatial difficulties, executive function (EF) difficulties, atypical looking strategies, or a…
Descriptors: Task Analysis, Visual Perception, Spatial Ability, Executive Function
LaBianca, Sonja; LaBianca, Jette; Pagsberg, Anne Katrine; Jakobsen, Klaus Damgaard; Appadurai, Vivek; Buil, Alfonso; Werge, Thomas – Journal of Autism and Developmental Disorders, 2021
Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are highly heritable neurodevelopmental disorders that frequently co-occur. Both rare and common genetic variants are important for ASD and ADHD risk but their combined contribution to clinical heterogeneity is unclear. In a sample of 39 ASD and/or ADHD families we…
Descriptors: Autism, Pervasive Developmental Disorders, Attention Deficit Hyperactivity Disorder, Comorbidity
Valérie Côté; Inga S. Knoth; Ève Lalancette; Jade-Audrey Lavergne; Lucie Côté; Philippe Major; Sarah Lippé – Journal of Developmental and Physical Disabilities, 2021
This study investigated which specific behavioural issues is best associated with adaptive functioning in three specific genetic syndromes. Behavioural issues were assessed in neurotypical (NT) (n = 43), Tuberous sclerosis complex (TSC) (n = 19), Down syndrome (DS) (n = 24) and Fragile X syndrome (FXS) (n = 23) participants ranging from 3 to…
Descriptors: Genetic Disorders, Behavior Problems, Down Syndrome, Intellectual Disability
Hellquist, Anna; Tammimies, Kristiina – Autism: The International Journal of Research and Practice, 2022
Clinical genetic testing is recommended for individuals diagnosed with autism spectrum disorder. There are only a few reports of how these recommendations are followed and especially missing for European countries. We aimed to analyze the rate of access, utilization, and awareness of clinical genetic testing among autistic individuals in Sweden…
Descriptors: Foreign Countries, Autism Spectrum Disorders, Genetic Disorders, Screening Tests
Kurtz-Nelson, Evangeline C.; Tham, See Wan; Ahlers, Kaitlyn; Cho, Daniel; Wallace, Arianne S.; Eichler, Evan E.; Bernier, Raphael A.; Earl, Rachel K. – Journal of Autism and Developmental Disorders, 2021
Self-injurious behaviors (SIB) are elevated in autism spectrum disorder (ASD) and related genetic disorders, but the genetic and biological mechanisms that contribute to SIB in ASD are poorly understood. This study examined rates and predictors of SIB in 112 individuals with disruptive mutations to ASD-risk genes. Current SIB were reported in 30%…
Descriptors: Self Destructive Behavior, Injuries, Autism, Pervasive Developmental Disorders
Fitzpatrick, Sarah E.; Schmitt, Lauren M.; Adams, Ryan; Pedapati, Ernest V.; Wink, Logan K.; Shaffer, Rebecca C.; Sage, Jessica; Weber, Jayne Dixon; Dominick, Kelli C.; Erickson, Craig A. – Journal of Autism and Developmental Disorders, 2020
To date, health related quality of life (QoL) has not been systematically evaluated in youth with fragile X syndrome (FXS), the most common single gene cause of autism and the most common inherited form of developmental disability. We describe QoL data gathered using the Pediatric Quality of Life Inventory (PedsQL) completed online by 364 parents…
Descriptors: Genetic Disorders, Children, Quality of Life, Autism
Zapata, Mercedes A. – Journal of Visual Impairment & Blindness, 2020
Introduction: In this study, the author examined the association between general self-efficacy (GSE) and employment status in working-age adults with retinitis pigmentosa (RP; N = 183). The author further examined the associations between employment status and factors that were previously found to be linked to employment outcomes in individuals…
Descriptors: Self Efficacy, Employment Level, Adults, Visual Impairments
Sarah Nelson Potter; Danielle Harvey; Audra Sterling; Leonard Abbeduto – Journal of Speech, Language, and Hearing Research, 2024
Purpose: Past research shows that parentally responsive behavior toward the child positively influences language development in both neurotypical children and children with intellectual and developmental disabilities, including those with fragile X syndrome (FXS); however, most studies have focused exclusively on the mother--child relationship.…
Descriptors: Family (Sociological Unit), Parents, Parent Participation, Parent Child Relationship
