Accès ouvert
2026
preprint
OpenAlex
Gerardo Parra, Klara Szilagyi, Yael Braverman, Devorah Kranz et autres
Abstract Transient beta events (TBE) during electroencephalography (EEG) reflect thalamocortical activity, bridging genotype to phenotype and impacting sensory responsivity. Compared to typically developing controls, we found elevated TBE rate in some children with idiopathic Autism Spectrum Disorder (ASD) and a majority of …
us, jp
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Accès ouvert
2026
article
OpenAlex
Khaleel Kamal, Janka Hatvani, Máté Pethő, András Sárkány et autres
Introduction: This study evaluated a machine learning tool designed to non-intrusively quantify and analyze biometric data of gaze, facial expressions, and paralinguistic social communication features during standardized autism observational assessments. The primary aim was to assess the diagnostic accuracy of this multimodal …
us, qa
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Accès ouvert
2026
article
OpenAlex
Emily Landau, Sarah E. Brooks, Janna Guilfoyle, Kritika Nayar et autres
Introduction: Autism spectrum disorder (ASD) is characterized in part by differences in pragmatic (i.e., social) language use. However, few studies on pragmatic language have included a meaningful number of autistic females, and even fewer have evaluated pragmatic language profiles for sex-specific differences. …
fr, us
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Accès ouvert
2026
conference-abstract
OpenAlex
Ella Jevtić, Rachel Schuck, Darcy Krueger, Martina E. Bebin et autres
Quality of Life (QoL) refers to an individual's overall well-being and satisfaction with life, influenced by cultural context, values, goals, and expectations. The Developmental Synaptopathies Consortium (DSC) includes Tuberous Sclerosis Complex (TSC), Phelan-McDermid Syndrome (PMS), and PTEN Hamartoma Tumor Syndrome (PHTS), rare …
us
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2025
article
OpenAlex
Siddharth Srivastava, Kristina Johnson, Cristan Farmer, Tess Levy et autres
Phelan-McDermid syndrome (PMS), caused by SHANK3 haploinsufficiency, lacks natural history data. We report the trajectory of adaptive behavior from a prospective, longitudinal, natural history study. English-speaking people aged 3-21 years with a PMS molecular diagnosis were followed over 2 years. We analyzed …
us
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Accès ouvert
2025
article
OpenAlex
Latha Soorya, Camille W. Brune, Cristan Farmer, Edith V. Ocampo et autres
The Developmental Synaptopathies Consortium is a multisite natural history network studying rare, neurogenetic syndromes associated with synaptic dysfunction and developmental delays. One aim of the Consortium is clinical trial readiness, including identifying clinical concepts and validating their measurement. We evaluated the scope …
us
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2025
article
OpenAlex
Tess Levy, Cristan Farmer, Siddharth Srivastava, Kristina Johnson et autres
The clinical spectrum of Phelan-McDermid syndrome (PMS) is varied, with wide-ranging degrees of intellectual disability, developmental delays, behavioral abnormalities, and medical features. Different types of genetic variation lead to PMS, and differing genotypes (e.g., size of deletion or type of variant) account …
us
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Accès ouvert
2025
article
OpenAlex
Cristan Farmer, Ivy Giserman‐Kiss, Ellora Mohanty, Latha Soorya et autres
Phelan-McDermid syndrome (PMS) is a genetic condition associated with profound neurodevelopmental disabilities. This study described patterns of onset and loss of developmental milestones and associated skills using questionnaire data from the PMS International Registry (N = 374) and clinician-led assessment data from …
us
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Accès ouvert
2025
article
OpenAlex
Cristan Farmer, Audrey Thurm, Tanvi Das, E. Martina Bebin et autres
Developmental domains, such as cognitive, language, and motor, are key concepts of interest in longitudinal studies of intellectual and developmental disabilities (IDD). Normative scores (e.g., IQ) are often used to operationalize performance on standardized tests of these concepts, but it is the …
us
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Accès ouvert
2025
article
OpenAlex
Bruno Carlos Dos Santos Melício, Kaan Karaköse, Ádám Fodor, Linyun Xiang et autres
Abstract The rising prevalence of autism spectrum disorder, coupled with limited professional resources, highlights the urgency of developing efficient diagnostic tools. While standardized assessments exist, identifying subtle communication deficits, especially during multimodal interactions, remains time-consuming and prone to human error. To address …
hu, us, fr
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Accès ouvert
2025
article
OpenAlex
Rachel Gore Moses, Morgan Similuk, Rylee Duncan, Margaret Pekar et autres
Phelan-McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with …
us
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Accès ouvert
2025
article
OpenAlex
Hailey Silver, Paige M. Siper, Jessica Zweifach, Mustafa Şahin et autres
BACKGROUND: SHANK2 disorder is a rare neurodevelopmental disorder caused by a deletion or pathogenic sequence variant of the SHANK2 gene and is associated with autism spectrum disorder (ASD), intellectual disability (ID), and developmental delay. To date, research in SHANK2 has focused on …
us
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