Results 71 to 80 of about 18,861 (235)

Level of autistic traits in neurotypical adults predicts kinematic idiosyncrasies in their biological movements

Frontiers in Integrative Neuroscience
IntroductionOver the last decade of research, a notable connection between autism spectrum disorder (ASD) and unique motor system characteristics has been identified, which may influence social communication through distinct movement patterns.
Gregory F. Lewis, Elizabeth B. daSilva, Mohammad Aghajani, Surabhi Date, Mark Jaime   +4 more
doaj   +1 more source

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

Psychometric Properties of the Persian Version of the Comprehensive Autism Trait Inventory (CATI)

Iranian Journal of Psychiatry
Objective: The present study aimed to culturally adapt and psychometrically evaluate the Comprehensive Autism Trait Inventory (CATI) for use within the Iranian society, thereby facilitating cross-cultural research on autistic traits.
Karim Abdolmohammadi, Asgar Alimohamadi, Jafar Samari Safa   +2 more
doaj   +1 more source

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard, Laura Farach, Hope Northrup, Sarah L. Wilson, Deborah Pearson, Syed Hashmi, Kate Richardson   +6 more
wiley   +1 more source

Associations Between Social Functioning and Indicators of University Student Engagement

European Journal of Investigation in Health, Psychology and Education
Less socially adaptive behaviors have often been underestimated in university students, with limited research addressing their impact on academic functioning. This study aimed to identify distinct profiles of social functioning difficulties in university
Marco Turi, Rocco Servidio, Giovanna Esposito, Flaviana Tenuta, Lorena Montesano, Andrea De Giacomo, Antonella Valenti, Maria Francesca Freda, Linda S. Pagani, Francesco Craig   +9 more
doaj   +1 more source

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain, Hope Northrup, Laura S. Farach, Sureni V. Mullegama, Kathleen Shields, Gretchen Von Allmen, Kate Richardson   +6 more
wiley   +1 more source

Prenatal broad-spectrum cannabidiol administration prevents an autism-like phenotype in male offspring from a maternal stress/terbutaline rat model

Brain, Behavior, & Immunity - Health
Recently, the diagnosis of autism spectrum disorder (ASD) has increased from 1 in 150 to every 1 in 36 children in the United States, warranting a need for novel prevention and therapeutic strategies.
Jeremy A. Taylor, Zachariah Z. Smith, Michael E. Anderson, Evan M. Holbrook, Isabella S. Elkinbard, Jon D. Reuter, Christopher A. Lowry, Daniel S. Barth   +7 more
doaj   +1 more source

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf, Andrea Accogli, Fadi F. Hamdan, Francesca Nardecchia, Toshiyuki Itai, Kenneth A. Myers, Christine Saint Martin, Myriam Srour   +7 more
wiley   +1 more source

Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family

BMC Medical Genetics, 2017
Background Chromosomal duplication at the Xq28 region including the MECP2 gene, share consistent clinical phenotypes and a distinct facial phenotype known as MECP2 duplication syndrome.
Xiaoyan Li, Hua Xie, Qian Chen, Xiongying Yu, Zhaoshi Yi, Erzhen Li, Ting Zhang, Jian Wang, Jianmin Zhong, Xiaoli Chen   +9 more
doaj   +1 more source

Musculoskeletal Phenotypes of 19 Patients With X‐Linked HNRNPH2‐Related Neurodevelopmental Disorder: A Prospective Case Series

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia, Rachel Salazar, Nicole Holuba, Franklin E. Paulino, Michael G. Vitale, Jennifer M. Bain, Joshua Hyman   +6 more
wiley   +1 more source