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Direct linkFouad A. Alshaban; Mohammad Aldosari; Iman Ghazal; Hawraa Al-Shammari; Saba ElHag; I. Richard Thompson; Jennifer Bruder; Hibah Shaath; Fatema Al-Faraj; Mohamed Tolefat; Assal Nasir; Eric Fombonne – Journal of Autism and Developmental Disorders, 2025
Purpose: Genetic and environmental risk factors associated with Autism Spectrum Disorders (ASD) continue to be a focus of research worldwide. Consanguinity, the cultural practice of marrying within a family, is common in cultures and societies of the Middle East, North Africa and parts of Asia. Consanguinity has been investigated as a risk factor…
Descriptors: Risk, Symptoms (Individual Disorders), Autism Spectrum Disorders, Environmental Influences
Sepideh Saroukhani; Maureen Samms-Vaughan; Jan Bressler; MinJae Lee; Courtney Byrd-Williams; Manouchehr Hessabi; Megan L. Grove; Sydonnie Shakespeare-Pellington; Katherine A. Loveland; Mohammad H. Rahbar – Journal of Autism and Developmental Disorders, 2024
To investigate additive and interactive associations of food allergies with three glutathione S-transferase (GST) genes in relation to ASD and ASD severity in Jamaican children. Using data from 344 1:1 age- and sex-matched ASD cases and typically developing controls, we assessed additive and interactive associations of food allergies with…
Descriptors: Food, Allergy, Genetics, Autism Spectrum Disorders
Michael R. Capawana; Pieter J. Vuijk; Joanna Martin; Alisha R. Pollastri; Gina A. Forchelli; Georgia G. Woscoboinik; Sonia L. Tremblay; Lauren E. Wolfe; Ellen B. Braaten; Alysa E. Doyle – Journal of Attention Disorders, 2024
Objective: We leveraged common genetic variation underlying ADHD, educational attainment (EA) and cognition (COG) to understand the nature of the Behavior Rating Inventory for Executive Functions (BRIEF) and its relationship to academic functioning. Method: Participants were 991 youth, ages 7 to 17, consecutively referred for neuropsychiatric…
Descriptors: Attention Deficit Hyperactivity Disorder, Executive Function, Child Behavior, Genetics
Powell, Bradley; Van Herwegen, Jo – Journal of Autism and Developmental Disorders, 2022
This study examined individual differences as well as the development of sensory processing difficulties in children with Williams syndrome (WS) using a cross-sectional (Experiment 1) and longitudinal design (Experiment 2). In Experiment 1, a clustering approach of sensory processing scores suggested two groups. Experiment 2 showed that the…
Descriptors: Sensory Experience, Perceptual Impairments, Genetic Disorders, Children
María Galán-Olleros; Elena González-Alguacil; Víctor Soto-Insuga; María Teresa Vara-Arias; Nelmar Valentina Ortiz-Cabrera; J. Ignacio Serrano; Rosa M. Egea-Gámez; Juan José García-Peñas; Ignacio Martínez-Caballero; Salvadora Aleza Esteras; Carlota Aparicio Fernández de Gatta; Elvira Cañedo Villarroya; Daniel Clemente Garulo; Rocío Falcón Roca; Silvia Gutiérrez Priego; Blanca López Monedero; Paula Moreno Gutiérrez; Miriam Martín Mangas; Francisca Romero Andujar; Amalia Tamariz Martel – Journal of Autism and Developmental Disorders, 2025
Purpose: Rett syndrome (RTT) is a rare multi-systemic disorder primarily linked to mutations in "MECP2" gene. This study aims to describe the prevalence of orthopedic conditions in RTT patients, and examine their intricate interplay with functional capabilities, and "MECP2" variant subtypes. Methods: Conducted as a…
Descriptors: Genetic Disorders, Intellectual Disability, Physical Disabilities, Patients
Qian, Yanyan; Zhou, Yuanfeng; Wu, Bingbing; Chen, Huiyao; Xu, Suzhen; Wang, Yao; Zhang, Ping; Li, Gang; Xu, Qiong; Zhou, Wenhao; Xu, Xiu; Wang, Huijun – Journal of Autism and Developmental Disorders, 2022
Autism spectrum disorders (ASDs) are a group of neurodevelopmental-related disorders with a high genetic risk. Recently, chromatin remodeling factors have been found to be related to ASDs. "SMARCA4" is such a catalytic subunit of the chromatin-remodeling complex. In this report, we identified seven novel missense variants in the…
Descriptors: Autism Spectrum Disorders, Children, Genetics, Intellectual Disability
Alaina M. Di Dio; Elizabeth A. Shewark; Daniel Thaler; S. Alexandra Burt – JCPP Advances, 2025
Background: Lower parental nurturance is consistently associated with higher levels of youth antisocial behavior (ASB), but the etiology of this association remains unclear. To fill this gap, we employed a twin differences approach to illuminate the environmental and genetic origins of the association between parental nurturance and children's…
Descriptors: Parenting Styles, Parent Child Relationship, Antisocial Behavior, Twins
Mariana L. Lauretta; Anna Jarmolowicz; David J. Amor; Stephanie Best; Angela T. Morgan – Journal of Speech, Language, and Hearing Research, 2024
Purpose: Advancements in genetic testing and analysis have allowed improved identification of the genetic basis of childhood apraxia of speech, a rare speech presentation. This study aimed to understand speech-language pathologists' (SLPs') consideration of incorporation of genetics in clinical practice using a theory-informed qualitative…
Descriptors: Foreign Countries, Neurological Impairments, Speech Impairments, Children
Fujishiro, Sadayuki; Tsuji, Shoji; Akagawa, Shohei; Akagawa, Yuko; Yamanouchi, Sohsaku; Ishizaki, Yuko; Hashiyada, Masaki; Akane, Atsushi; Kaneko, Kazunari – Journal of Autism and Developmental Disorders, 2023
The gut microbiota was reported to differ between children with autism spectrum disorder (ASD) and typically developing (TD) children, and dysbiosis of the gut microbiota in preterm infants is common. Here, we explored the characteristics of gut microbiota in children born preterm with ASD. We performed 16S rRNA gene sequencing using stool samples…
Descriptors: Premature Infants, Autism Spectrum Disorders, Children, Microbiology
Uchenna Ezedinma; Evan Jones; Alexander Ring; Spencer Miller; Andrew Ladhams; Shauna Fjaagesund; Terri Downer; Gary Campbell; Florin Oprescu – Autism: The International Journal of Research and Practice, 2025
Anecdotal reports link a distinct, bilateral, parieto-temporally generated 4.5-Hz rhythm on an electroencephalogram to a methylenetetrahydrofolate reductase gene variant co-occurring in autism spectrum disorder, but the validation of its precision is needed. The electroencephalograms of children with autism spectrum disorder showing the distinct…
Descriptors: Autism Spectrum Disorders, Genetic Disorders, Children, Preadolescents
Ane Perosanz; Oscar Martínez; Néstor Roselli; Paula Pérez-Núñez; Samuel Anguiano; Juan Francisco López-Paz – American Journal on Intellectual and Developmental Disabilities, 2025
The present study is a systematic review of intervention programs designed to improve the socioemotional skills of children and adolescents with Prader-Willi syndrome (PWS). The search was conducted in the Web of Science and Pubmed databases following the PRISMA guidelines. A total of six studies made up the final sample and were organized based…
Descriptors: Genetic Disorders, Intervention, Interpersonal Competence, Emotional Response
Blaise Di Mento; James Rufus John; Antonio Mendoza Diaz; Ping-I Lin; Anne Masi; Rachel Grove; Valsamma Eapen – Journal of Autism and Developmental Disorders, 2025
Examining sub-threshold autistic traits in non-autistic first-degree relatives of individuals on the autism spectrum, known as the Broad Autism Phenotype (BAP), could provide new insights into the associations and familial aggregation of autistic traits. This study was a retrospective cross-sectional study of parents (n = 1008), probands with…
Descriptors: Autism Spectrum Disorders, Gender Differences, Symptoms (Individual Disorders), Genetics
Fatma Subasi Turgut; Mehmet Karadag; Seyithan Taysi; Zehra Hangül; Cem Gokcen – International Journal of Developmental Disabilities, 2024
Recent studies show that oxidative stress has an important role in the etiology of autism. In our study, Nrf2, which is the main regulator of cellular antioxidant response, and Keap1 and Gsk-3[beta], which are the main proteins that regulate this pathway, were compared between children with autism and healthy controls. To the best of our…
Descriptors: Autism Spectrum Disorders, Metabolism, Pathology, Physiology
Will, Elizabeth A.; Roberts, Jane E. – American Journal on Intellectual and Developmental Disabilities, 2021
Motor skills, an important foundation for language and communication, are considerably delayed in children with Down syndrome (DS) and fragile X syndrome (FXS). However, the impact of these impairments on expressive and receptive communication and the phenotypic specificity of these associations remains unknown. Participants included 37 with DS…
Descriptors: Psychomotor Skills, Down Syndrome, Genetic Disorders, Children
Eugene Merzon; Ariel Israel; Beth Krone; Shani Medvejer; Shira Cohen; Ilan Green; Avivit Golan-Cohen; Shlomo Vinker; Stephen V. Faraone; Jeffrey H. Newcorn; Shai Ashkenazi; Abraham Weizman; Iris Manor – Journal of Attention Disorders, 2024
Objective: There is growing evidence of involvement of inflammatory mechanisms in ADHD. Previous studies found significantly higher rates of ADHD among children with FMF. The present study examined the rate of exposure to FMF in children with a later (within a 5-year period) diagnosis of ADHD compared to non-ADHD children. Methods: A…
Descriptors: Attention Deficit Hyperactivity Disorder, Diseases, Physiology, Genetic Disorders
