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Direct linkGiovanna Cantini Tolezano; Giovanna Civitate Bastos; Silvia Souza da Costa; Bruna Lucheze Freire; Thais Kataoka Homma; Rachel Sayuri Honjo; Guilherme Lopes Yamamoto; Maria Rita Passos-Bueno; Celia Priszkulnik Koiffmann; Chong Ae Kim; Angela Maria Vianna-Morgante; Alexander Augusto de Lima Jorge; Débora Romeo Bertola; Carla Rosenberg; Ana Cristina Victorino Krepischi – Journal of Autism and Developmental Disorders, 2024
Microcephaly presents heterogeneous genetic etiology linked to several neurodevelopmental disorders (NDD). Copy number variants (CNVs) are a causal mechanism of microcephaly whose investigation is a crucial step for unraveling its molecular basis. Our purpose was to investigate the burden of rare CNVs in microcephalic individuals and to review…
Descriptors: Foreign Countries, Genetics, Genetic Disorders, Neurodevelopmental Disorders
Fouad 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
Baker, Emma K.; Arora, Sheena; Amor, David J.; Date, Perrin; Cross, Meagan; O'Brien, James; Simons, Chloe; Rogers, Carolyn; Goodall, Stephen; Slee, Jennie; Cahir, Chris; Godler, David E. – Journal of Autism and Developmental Disorders, 2023
The study characterised differences in costs associated with raising a child between four rare disorders and examined the associations between these costs with clinical severity. Caregivers of 108 individuals with Prader-Willi, Angelman (AS), Chromosome 15q Duplication and fragile X (FXS) syndromes completed a modified Client Services Receipt…
Descriptors: Costs, Child Rearing, Genetic Disorders, Severity (of Disability)
Hettiarachchi, D.; Neththikumara, N. F.; Pathirana, B. A. P. S.; Dissanayake, V. H. W. – Journal of Autism and Developmental Disorders, 2020
Rett syndrome (RTT) is a rare monogenic disorder affecting 1 in 10,000 live female births causing severe neurodegenerative symptoms. We analyzed the molecular genetic variants in the gene encoding the methyl-CpG binding protein 2 ("MECP2") of 16 girls with RTT. Their mutation profile was as follows; Already described variants: p.R168X in…
Descriptors: Foreign Countries, Genetic Disorders, Females, Neurological Impairments
Iwanicki, Tomasz; Balcerzyk, Anna; Kazek, Beata; Emich-Widera, Ewa; Likus, Wirginia; Iwanicka, Joanna; Kapinos-Gorczyca, Agnieszka; Kapinos, Maciej; Jarosz, Alicja; Grzeszczak, Wladyslaw; Górczynska-Kosiorz, Sylwia; Niemiec, Pawel – Journal of Autism and Developmental Disorders, 2022
The aim of the study was to perform family-based association analysis of "PRKCB1," "CBLN1" and "KCNMB4" gene polymorphisms and autism disorder. We comprised 206 Caucasian children with autistic spectrum disorder (ASD) and their biological parents. In transmission/disequilibrium test we observed that T-allele of the…
Descriptors: Autism Spectrum Disorders, Genetic Disorders, Whites, Children
Bang, Peter; Strömberg, Maria; Meera, Shoba S.; Igelström, Kajsa – Journal of Autism and Developmental Disorders, 2022
The broad autism phenotype (BAP) is a set of characteristics often observed in typically developing people with a genetic load for autism, such as parents of autistic children. The Broad Autism Phenotypic Questionnaire (BAPQ) is a 36-item questionnaire developed to identify the BAP in first-degree relatives of autistic people. We translated the…
Descriptors: Autism Spectrum Disorders, Disability Identification, Symptoms (Individual Disorders), Psychometrics
Dy, Angel Belle C.; Tanchanco, Lourdes Bernadette S.; Sy, Jenica Clarisse Y.; Levantino, Myla Dominicina; Hagerman, Randi J. – Journal of Autism and Developmental Disorders, 2023
Individuals with autism spectrum disorder present with difficulties in social communication, restricted interests or behaviors and other co-morbidities. About 2 to 10% of cases of autism have a genetic cause, and Fragile X Syndrome (FXS) is reported in 0 to 6.5% of individuals with autism. However, the FXS and premutation prevalence among Filipino…
Descriptors: Young Children, Genetic Disorders, Congenital Impairments, Intellectual Disability
Li, Yan; Qiu, Shuang; Zhong, Weijing; Li, Yong; Liu, Yunkai; Cheng, Yi; Liu, Yawen – Journal of Autism and Developmental Disorders, 2020
Autism spectrum disorder (ASD) represents a group of childhood-onset lifelong neuro-developmental disorders. However, the association between single nucleotide polymorphisms (SNPs) in the deleted in colorectal carcinoma (DCC) gene and ASD susceptibility remains unclear. We investigated the association between ASD susceptibility and seven SNPs in…
Descriptors: Autism, Pervasive Developmental Disorders, Genetic Disorders, At Risk Persons
Harvey, Hannah; Ashworth, Maria; Palikara, Olympia; Van Herwegen, Jo – Journal of Autism and Developmental Disorders, 2020
Vision problems can lead to negative developmental outcomes. Children with Williams syndrome and Down syndrome are at higher risk of vision problems, and these are less likely to be detected due to diagnostic overshadowing and difficulty accessing eye-care. Education, Health and Care (EHC) plans are statutory documents, introduced by the Children…
Descriptors: Visual Impairments, Genetic Disorders, Down Syndrome, Children
Márquez-Caraveo, María Elena; Ibarra-González, Isabel; Rodríguez-Valentín, Rocío; Ramírez-García, Miguel Ángel; Pérez-Barrón, Verónica; Lazcano-Ponce, Eduardo; Vela-Amieva, Marcela – Journal of Autism and Developmental Disorders, 2021
The objective of our study was to evaluate the frequency of treatable inborn errors of metabolism (IEM) in a clinical sample of Mexican children and adolescents with neurodevelopmental disorders (NDD). Amino acids and acylcarnitines in blood samples of 51 unrelated children and adolescents were analyzed by tandem mass spectrometry to detect…
Descriptors: Foreign Countries, Mexicans, Clinical Diagnosis, Genetic Disorders
Ellis, Katherine; Oliver, Chris; Stefanidou, Chrysi; Apperly, Ian; Moss, Jo – Journal of Autism and Developmental Disorders, 2020
We directly assessed the broader aspects of sociability (social enjoyment, social motivation, social interaction skills and social discomfort) in individuals with Cornelia de Lange (CdLS), fragile X (FXS) and Rubinstein-Taybi syndromes (RTS), and their association with autism characteristics and chronological age in these groups. Individuals with…
Descriptors: Interpersonal Competence, Motivation, Neurological Impairments, Genetic Disorders
Al-Mamari, Watfa; Al-Saegh, Abeer; Al-Kindy, Adila; Bruwer, Zandre; Al-Murshedi, Fathiya; Al-Thihli, Khalid – Journal of Autism and Developmental Disorders, 2015
Autism Spectrum Disorders are a complicated group of disorders characterized with heterogeneous genetic etiologies. The genetic investigations for this group of disorders have expanded considerably over the past decade. In our study we designed a tired approach and studied the diagnostic yield of chromosomal microarray analysis on patients…
Descriptors: Autism, Pervasive Developmental Disorders, Children, Genetic Disorders
Mori, Yuka; Downs, Jenny; Wong, Kingsley; Heyworth, Jane; Leonard, Helen – Journal of Autism and Developmental Disorders, 2018
Using the Short Form 12 Health Survey this cross-sectional study examined parental well-being in caregivers of children with one of three genetic disorders associated with intellectual disability; Down syndrome, Rett syndrome and the CDKL5 disorder. Data were sourced from the Western Australian Down Syndrome (n = 291), Australian Rett Syndrome (n…
Descriptors: Intellectual Disability, Well Being, Genetic Disorders, Multivariate Analysis
Waite, Jane; Beck, Sarah R.; Heald, Mary; Powis, Laurie; Oliver, Chris – Journal of Autism and Developmental Disorders, 2016
Working memory (WM) impairments might amplify behavioural difference in genetic syndromes. Murine models of Rubinstein-Taybi syndrome (RTS) evidence memory impairments but there is limited research on memory in RTS. Individuals with RTS and typically developing children completed WM tasks, with participants with RTS completing an IQ assessment and…
Descriptors: Short Term Memory, Spatial Ability, Verbal Ability, Verbal Development
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