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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
Irene Campos-Sánchez; Eva María Navarrete-Muñoz; Dries S. Martens; Isolina Riaño-Galán; Aitana Lertxundi; Sabrina Llop; Mónica Guxens; Cristina Rodríguez-Dehli; Nerea Lertxundi; Raquel Soler-Blasco; Martine Vrijheid; Tim S. Nawrot; John Wright; Tiffany C. Yang; Rosie McEachan; Kristine Bjerve Gützkow; Vaia Lida Chatzi; Marina Vafeiadi; Mariza Kampouri; Regina Grazuleviciene; Sandra Andrusaityte; Johanna Lepeule; Desirée Valera-Gran – Journal of Attention Disorders, 2025
Objective: To explore the association between telomere length (TL) and attention deficit hyperactivity disorder (ADHD) symptoms in children at 6-12 years. Method: Data from 1,759 children belonging to the HELIX project cohorts and the Asturias, Gipuzkoa and Valencia cohorts of INMA project were included. TL was determined by blood sample using a…
Descriptors: Foreign Countries, Genetic Disorders, Attention Deficit Hyperactivity Disorder, Mothers
Download full textJoel Hooper; Marzieh Azarbadegan; Evie Cogley; Michelle Mackie; Nathan Bransden – UK Department for Education, 2024
In January 2024, building on the Genomics Beyond Health report, the Department for Education (DfE), with co-funding from the Government Office for Science (GO-Science), commissioned Ipsos UK through the Futures Procurement Framework to understand the potential future risks and opportunities of the use of genomics in education. The Government…
Descriptors: Foreign Countries, Genetics, Genetic Disorders, Congenital Impairments
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
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
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
Pacheco, Sierra – Voices in Education, 2020
The objective of this study was to assess the correlation of the Per3 gene VNTR polymorphism to insomnia patients in Bermuda. Buccal swabs were taken, and DNA was extracted, after which the genotypes of volunteers were characterised by using polymerase chain reaction. There were 25 total volunteers (21 females, 4 males, aged 20-79) that…
Descriptors: Foreign Countries, Genetics, Sleep, Correlation
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
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
Haghighatfard, 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
Saldarriaga, Wilmar; González-Teshima, Laura Yuriko; Forero-Forero, Jose Vicente; Tang, Hiu-Tung; Tassone, Flora – Journal of Intellectual Disabilities, 2022
Fragile X syndrome (FXS) has a classic phenotype, however its expression can be variable among full mutation males. This is secondary to variable methylation mosaicisms and the number of CGG triplet repeats in the non-coding region of the Fragile X Mental Retardation 1 ("FMR1") gene, producing a variable expression of the Fragile X…
Descriptors: Genetic Disorders, Heredity, Symptoms (Individual Disorders), Intellectual Disability
Maria Caples; Bridie McCarthy; Eileen Savage – Journal of Intellectual Disabilities, 2024
22q11.2 deletion syndrome is a rare multisystem genetic disorder with over 200 associated characteristics, occurring in various combinations and severity. Extensive biomedical research has been undertaken on 22q11.2 deletion syndrome, however, there is a dearth of research on families' experiences of managing a family member with this condition.…
Descriptors: Genetic Disorders, Resilience (Psychology), Family Environment, Children
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)
