Results 171 to 180 of about 827,442 (390)

Model selection to achieve reproducible associations between resting state EEG features and autism

open access: yesScientific Reports
A concern in the field of autism electroencephalography (EEG) biomarker discovery is their lack of reproducibility. In the present study, we considered the problem of learning reproducible associations between multiple features of resting state (RS ...
William E. Carson   +7 more
doaj   +1 more source

Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT 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 the same molecular
Rachel Gore Moses   +21 more
wiley   +1 more source

The Role of SLC39A8.p.(Ala391Thr) in Schizophrenia Symptom Severity and Cognitive Ability: Cross‐Sectional Studies of Schizophrenia and the General UK Population

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The missense SNP NC_000004.12:g.102267552C>T (also known as SLC39A8.p.(Ala391Thr), rs13107325) in SLC39A8 encodes a zinc transporter. This SNP has been linked to schizophrenia and is the likely causal variant for one of the genome‐wide association loci associated with the disorder. Using regression analyses, we tested whether the schizophrenia‐
Sophie E. Smart   +12 more
wiley   +1 more source

Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric‐onset epilepsies and in developmental and epileptic encephalopathies.
Mario Mastrangelo   +5 more
wiley   +1 more source

The Multifaceted Etiology of Mental Disorders With a Focus on Trace Elements, a Review of Recent Literature

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Mental disorders are a significant global public health concern, affecting nearly one in eight individuals worldwide. This review investigates the multifaceted etiology of mental disorders—specifically major depressive disorder (MDD), schizophrenia (SCZ), and bipolar disorder (BD)—through genetic, neurobiological, and environmental ...
Maria Francesca Astorino   +8 more
wiley   +1 more source

Neurodevelopmental Phenotyping and Genotyping in the Pediatric National Institute of Health Undiagnosed Disease Program

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The National Institute of Health (NIH) Undiagnosed Diseases Program (UDP) is an NIH project with the goal of providing both a comprehensive diagnosis and a better understanding of the many mechanisms of disease for patients with rare and undiagnosed conditions.
Dee Adedipe   +19 more
wiley   +1 more source

Provider attitudes toward evidence-based practice in autism: a mini-review

open access: yesFrontiers in Child and Adolescent Psychiatry
There are many established evidence-based practices (EBPs) for autistic youth which facilitate wellbeing and skill development across a range of domains.
Elizabeth A. DeLucia   +2 more
doaj   +1 more source

Assessment and Treatment of Target Behavior Maintained by Social Avoidance

open access: yesBehavioral Sciences
Past research has identified that some individuals with intellectual and developmental disabilities who engage in target behavior (e.g., aggression, self-injury) maintained by negative reinforcement engage in the behavior to escape or avoid social ...
Sarah K. Slocum   +3 more
doaj   +1 more source

Autism spectrum disorder

open access: yesNature Reviews Disease Primers, 2020
C. Lord   +11 more
semanticscholar   +1 more source

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