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Direct linkHaghighatfard, Arvin; Yaghoubi asl, Elham; Bahadori, Rosita Azar; Aliabadian, Rojina; Farhadi, Mahdi; Mohammadpour, Fatemeh; Tabrizi, Zeinab – Autism & Developmental Language Impairments, 2022
Background and aims: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by language impairment, and challenges with social interaction, communication, and repetitive behaviors. Although genetics are a primary cause of ASD, the exact genes and molecular mechanisms involved in its pathogenesis are not completely clear. The…
Descriptors: Autism Spectrum Disorders, Executive Function, Genetic Disorders, Genetics
Amrita Minhas; Kerri Whitlock; Cory Rosenfelt; Julie Shatto; Brittany Finlay; Jennifer Zwicker; Sarah Lippe; Sebastien Jacquemont; Randi Hagerman; Kara Murias; Francois V. Bolduc – Journal of Autism and Developmental Disorders, 2025
The purpose of this paper was to examine the physical, emotional, social and school functioning domains of quality of life of individuals with Fragile X Syndrome, in relation to mental health and sleep patterns to gain a better understanding of how these aspects are affected by the disorder. This study included 119 individuals with Fragile X…
Descriptors: Genetic Disorders, Mental Health, Sleep, Symptoms (Individual Disorders)
Jessica Klusek; Elizabeth Will; Thomas Christensen; Kelly Caravella; Abigail Hogan; Jennifer Sun; Jenna Smith; Amanda J. Fairchild; Jane E. Roberts – Journal of Speech, Language, and Hearing Research, 2024
Purpose: The "Fragile X Messenger Ribonucleoprotein-1 (FMR1)" premutation (FXpm) is a genetic variant that is common in the general population and is associated with health symptoms and disease in adulthood. However, poor understanding of the clinical phenotype during childhood has hindered the development of clinical practice guidelines…
Descriptors: Genetic Disorders, Young Children, Interpersonal Communication, Communication Skills
Elizabeth A. Will; Kimberly J. Hills; Kayla Smith; Samuel McQuillin; Jane E. Roberts – Autism: The International Journal of Research and Practice, 2024
Fragile X syndrome (FXS), the leading heritable cause of intellectual disability, has a co-occurrence rate of autism spectrum disorder (ASD) estimated at ~60%. The onset and rates of motor development in FXS are slower relative to neurotypical development, and even more so in the context of co-occurring FXS + ASD. Extant evidence suggests these…
Descriptors: Genetic Disorders, Autism Spectrum Disorders, Comorbidity, Psychomotor Skills
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)
Maltman, Nell; Hilvert, Elizabeth; Friedman, Laura; Sterling, Audra – Journal of Speech, Language, and Hearing Research, 2023
Purpose: Expressive language impairments are common among school-age boys with fragile X syndrome (FXS) and autistic boys. Given the high cooccurrence of autism spectrum disorder (ASD) among individuals with FXS, cross-condition comparisons can elucidate the specificity of such impairments as they relate to ASD. Language samples can provide…
Descriptors: Males, Genetic Disorders, Autism Spectrum Disorders, Comorbidity
Nell Maltman; Rebecca Willer; Audra Sterling – Journal of Speech, Language, and Hearing Research, 2023
Purpose: Autistic boys and boys with co-occurring fragile X syndrome and autism spectrum disorder (FXS + ASD) demonstrate similar pragmatic language difficulties. The Pragmatic Rating Scale--School Age (PRS-SA) captures ecologically valid metrics of pragmatic language impairments in these populations. It is traditionally scored based on the Autism…
Descriptors: Language Usage, Pragmatics, Males, Autism Spectrum Disorders
Jamie Linert; Lizbeth H. Finestack; Leonard Abbeduto – Journal of Speech, Language, and Hearing Research, 2025
Purpose: The current study addresses a gap in the literature regarding syntactic development of adolescent boys with fragile X syndrome (FXS) and Down syndrome (DS). Specifically, we ask whether syntactic skills plateau or continue to change during adolescence for these groups and whether the profile of syntactic change differs between boys with…
Descriptors: Syntax, Adolescents, Males, Genetic Disorders
Fielding-Gebhardt, Heather; Bredin-Oja, Shelley L.; Warren, Steven F.; Brady, Nancy C. – Journal of Autism and Developmental Disorders, 2021
Accurate representation of autism spectrum disorder (ASD) in fragile X syndrome (FXS) is necessary for the field. We examined classifications of ASD using three approaches--Autism Diagnostic Observation Schedule (ADOS-2; Lord et al. 2012), Childhood Autism Rating Scale (CARS2-ST; Schopler et al. 2010), and Vineland Adaptive Behavior Scales…
Descriptors: Autism, Pervasive Developmental Disorders, Genetic Disorders, Disability Identification
Neufeld, Janina; Hederos Eriksson, Lisa; Hammarsten, Richard; Lundin Remnélius, Karl; Tillmann, Julian; Isaksson, Johan; Bölte, Sven – Autism: The International Journal of Research and Practice, 2021
Atypical sensory processing is prevalent across neurodevelopmental conditions and a key diagnostic criterion of autism spectrum disorder. It may have cascading effects on the development of adaptive functions. However, its unique contribution to adaptive functioning and the genetic/environmental influences on this link are unclear. In a clinically…
Descriptors: Autism, Pervasive Developmental Disorders, Perceptual Impairments, Twins
Fielding-Gebhardt, Heather; Bredin-Oja, Shelley L.; Warren, Steven F. – American Journal on Intellectual and Developmental Disabilities, 2021
The development of an expressive language score for people with autism based on the ADOS-2 was recently reported by Mazurek et al. (2019). The current study examined the construct validity of the ADOS-2 expressive language score (ELS) in a sample of adolescents with fragile X syndrome (n = 45, 10 girls), a neurodevelopmental disorder with high…
Descriptors: Autism, Pervasive Developmental Disorders, Expressive Language, Genetic Disorders
Klein-Tasman, Bonita P.; Mervis, Carolyn B. – Journal of Autism and Developmental Disorders, 2018
Gold-standard diagnostic assessments of autism spectrum disorder (ASD) symptomatology were conducted on 63 children (mean CA: 8.81 years) with 7q11.23 duplication syndrome, one of the copy number variants identified by Sanders et al. ("Neuron" 70:863-885, 2011a) as associated with ASD. ASD classification rate was 39.6% for the Autism…
Descriptors: Autism, Pervasive Developmental Disorders, Clinical Diagnosis, Age Differences
Grigorenko, Elena L.; Dozier, Mary – Child Development, 2013
The debate about the relevance of human genetics knowledge to everyday life has been marked by fluctuations of interest and enthusiasm. The negative impact of eugenics on the public consciousness suppressed dialogue between geneticists and the public for most of the second half of the 20th century (Ridley, 1999). For the most part, nongeneticists…
Descriptors: Genetics, Public Health, Genetic Disorders, Scientific Research
Cochran, Lisa; Welham, Alice; Oliver, Chris; Arshad, Adam; Moss, Joanna F. – Journal of Autism and Developmental Disorders, 2019
Age-related behavioural change in Cornelia de Lange syndrome is poorly understood. We report a 7 year follow-up study of adaptive behaviour, autism spectrum disorder symptomatology, language skills and behavioural characteristics in 30 individuals with Cornelia de Lange syndrome, compared with 18 individuals with Cri du Chat syndrome. The…
Descriptors: Behavior Change, Followup Studies, Autism, Pervasive Developmental Disorders
Klein-Tasman, Bonita P.; van der Fluit, Faye; Mervis, Carolyn B. – Journal of Autism and Developmental Disorders, 2018
To characterize autism spectrum-related symptomatology in children with Williams syndrome (WS) with phrase speech or fluent language, the Autism Diagnostic Observation Schedule Module 2 or 3 was administered. The cutoff for autism spectrum was met by 35% (14/40) who completed Module 2 and 30% (18/60) who completed Module 3. Similarities and…
Descriptors: Autism, Pervasive Developmental Disorders, Genetic Disorders, Children
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