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Direct linkChow, Julie C.; Hormozdiari, Fereydoun – Journal of Autism and Developmental Disorders, 2023
The early detection of neurodevelopmental disorders (NDDs) can significantly improve patient outcomes. The differential burden of non-synonymous de novo mutation among NDD cases and controls indicates that de novo coding variation can be used to identify a subset of samples that will likely display an NDD phenotype. Thus, we have developed an…
Descriptors: Prediction, Neurodevelopmental Disorders, Identification, Genetics
Giovanna 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
Laila Hadaya; Lucy Vanes; Vyacheslav Karolis; Dana Kanel; Marguerite Leoni; Francesca Happé; A. David Edwards; Serena J. Counsell; Dafnis Batalle; Chiara Nosarti – Journal of Autism and Developmental Disorders, 2024
Very preterm (VPT; < 33 weeks' gestation) toddlers screening positively for autism spectrum conditions (ASC) may display heterogenous neurodevelopmental trajectories. Here we studied neonatal brain volumes and childhood ASC traits evaluated with the Social Responsiveness Scale (SRS-2) in VPT-born toddlers (N = 371; median age 20.17 months)…
Descriptors: Autism Spectrum Disorders, Premature Infants, Neurodevelopmental Disorders, Screening Tests
Emma C. Woodford; Laurie K. McLay; Karyn G. France; Neville M. Blampied – Journal of Autism and Developmental Disorders, 2025
Purpose: The prevalence of sleep difficulties among children with rare genetic neurodevelopmental conditions (RGNC) is high. Behavioral interventions are commonly used in the treatment of sleep difficulties in children with neurodevelopmental conditions such as autism, however, research is scarce in children with RGNC. The range of co-occurring…
Descriptors: Sleep, Neurodevelopmental Disorders, Behavior Problems, Intervention
Hannah M. Hobson; Umar Toseeb; Jenny L. Gibson – International Journal of Language & Communication Disorders, 2024
Background: Neurodiversity is increasingly discussed in relation to autism research and practice. However, there is a lack of scholarship concerning the neurodevelopmental condition of Developmental Language Disorder (DLD) and the neurodiversity movement. While this movement may hold opportunities for the DLD community, the application of the…
Descriptors: Developmental Disabilities, Language Impairments, Neurodevelopmental Disorders, Diversity
Anna Hryniewiecka-Jaworska; Emily Sloper; Hayley Archer; Angus John Clarke – Journal of Applied Research in Intellectual Disabilities, 2025
Background and Methods: We report historical information from longitudinal data held in the British Isles Rett Syndrome Survey (BIRSS) concerning women of at least 40 years. This information, including comments on the quality of care, has been provided by families, carers, and clinicians. Results: Information was available on 30 women with a…
Descriptors: Foreign Countries, Adults, Females, Neurodevelopmental Disorders
Taeyeop Lee; Hyeji Lee; Soowhee Kim; Kee Jeong Park; Joon-Yong An; Hyo-Won Kim – Journal of Autism and Developmental Disorders, 2024
The aim of this study was to examine genetic variations underlying the early neurodevelopmental outcome of developmental disabilities (DDs). The study cohort consisted of 191 children with DDs. Diagnosis was assessed at baseline and at the index age (72-84 months). Exome sequencing was conducted and putative risk variants were identified.…
Descriptors: Developmental Disabilities, Children, Genetics, Risk
Rabelo, Livia Nascimento; Queiroz, José Pablo Gonçalves; Castro, Carla Cristina Miranda; Silva, Sayonara Pereira; Campos, Laura Damasceno; Silva, Larissa Camila; Nascimento, Ezequiel Batista; Martínez-Cerdeño, Veronica; Fiuza, Felipe Porto – Journal of Autism and Developmental Disorders, 2023
Autism spectrum disorder (ASD) is manifested by abnormal cell numbers and patches of gene expression disruption in higher-order brain regions. Here, we investigated whether layer-specific changes in glia/neuron ratios (GNR) characterize patches in the dorsolateral prefrontal cortex (DL-PFC) of children with ASD. We analyzed high-resolution digital…
Descriptors: Autism Spectrum Disorders, Brain Hemisphere Functions, Children, Neurodevelopmental Disorders
Melissa Raspa; Angela Gwaltney; Carla Bann; Jana von Hehn; Timothy A. Benke; Eric D. Marsh; Sarika U. Peters; Amitha Ananth; Alan K. Percy; Jeffrey L. Neul – Journal of Autism and Developmental Disorders, 2025
Rett syndrome is a severe neurodevelopmental disorder that affects about 1 in 10,000 females. Clinical trials of disease modifying therapies are on the rise, but there are few psychometrically sound caregiver-reported outcome measures available to assess treatment benefit. We report on a new caregiver-reported outcome measure, the Rett Caregiver…
Descriptors: Neurodevelopmental Disorders, Genetic Disorders, Females, Test Validity
Timothy J. Smith – International Journal of Art & Design Education, 2024
Crip time is a fluid term with various definitions that pertain to the ways that disabled people experience time. In one sense, the effects of crip time can be constraining, particularly when it results in an encounter with ableist institutional and societal barriers. But crip time can also take on a liberatory form as a mode of resistance and a…
Descriptors: Art Education, Time, Neurodevelopmental Disorders, College Students
Daire Buckley; Ali S. Khashan; Fergus P. McCarthy; Karen O'Connor; Gillian M. Maher – Journal of Autism and Developmental Disorders, 2025
Objective: To examine the association between threatened miscarriage, and neurodevelopmental disorders, including autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) in offspring by age 14 years. Methods: We used data from the Millennium Cohort Study, a nationally representative longitudinal study of children born in…
Descriptors: Autism Spectrum Disorders, Neurodevelopmental Disorders, Attention Deficit Hyperactivity Disorder, Pregnancy
Lauren E. Mazur; Katelyn M. Even; Conrad Krawiec – Journal of Autism and Developmental Disorders, 2025
Children with neurodevelopmental disorders are at risk for burn injury, but the clinical outcomes, particularly mortality, are unknown in this patient population in the United States (U.S.). The main objectives of this study are to evaluate (1) subject characteristics; (2) burn injury type; (3) clinical care provided; and (4) mortality in children…
Descriptors: Children, Neurodevelopmental Disorders, At Risk Persons, Individual Characteristics
Kaylyn Van Deusen; Mark A. Prince; Madison M. Walsh; Lina R. Patel; Miranda E. Pinks; Anna J. Esbensen; Angela John Thurman; Leonard Abbeduto; Courtney Oser; Lisa A. Daunhauer; Deborah J. Fidler – American Journal on Intellectual and Developmental Disabilities, 2025
Executive function (EF) is frequently an area of vulnerability in conditions associated with intellectual disability, like Down syndrome (DS). However, current EF evaluation approaches are not designed for children with underlying neurodevelopmental conditions and may not demonstrate construct validity due to interpretational confounds. The…
Descriptors: Executive Function, Down Syndrome, Neurodevelopmental Disorders, Young Children
Kakia Petinou; Christina Giannikas; Theodora Papastefanou; Lia Hadjigeorgiou; Ioanna Stamelou – Communication Disorders Quarterly, 2024
Young children are known to make significant progress in learning their native language during the first 4 years of their life. Nonetheless, delays or differences in patterns of language acquisition can be cautiously determined and be sensitive indicators of developmental issues. The current paper displays an investigation that examines plural…
Descriptors: Foreign Countries, Greek, Preschool Children, Communication Disorders
Maia C. Lazerwitz; Mikaela A. Rowe; Kaitlyn J. Trimarchi; Rafael D. Garcia; Robyn Chu; Mary C. Steele; Shalin Parekh; Jamie Wren-Jarvis; Ioanna Bourla; Ian Mark; Elysa J. Marco; Pratik Mukherjee – Journal of Autism and Developmental Disorders, 2024
Sensory Over-Responsivity (SOR) is an increasingly recognized challenge among children with neurodevelopmental concerns (NDC). To investigate, we characterized the incidence of auditory and tactile over-responsivity (AOR, TOR) among 82 children with NDC. We found that 70% of caregivers reported concern for their child's sensory reactions. Direct…
Descriptors: Sensory Experience, Neurodevelopmental Disorders, Children, Auditory Perception
