Results 101 to 110 of about 144,447 (302)

Neonatal risk factors associated with autism spectrum disorders: an umbrella review [PDF]

open access: yesClinical and Experimental Pediatrics
Background Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by severe social communication deficits and stereotypical repetitive behaviors. Purpose This umbrella review assessed neonatal risk factors associated with ASD using
Amir Mohammad Salehi   +5 more
doaj   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy   +16 more
wiley   +1 more source

Sleep problems in children with autism, attention-deficit hyperactivity disorder, and epilepsy

open access: yes, 2014
This study aimed to examine sleep problems in children with autism spectrum disorders (ASD), attention-deficit/hyperactivity disorder (ADHD), and epilepsy in clinical settings.
Tsai, Fang-Ju;Chiang, Huey-Ling;Lee, Chi-Mei;Gau, Susan Shur-Fen;Lee, Wang-Tso;Fan, Pi-Chuan;Wu, Yu-Yu;Chiu, Yen-Nan   +1 more
core   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo   +3 more
wiley   +1 more source

Parent-infant interaction in infant siblings at risk of autism [PDF]

open access: yes, 2012
Recent models of the early emergence of autism spectrum disorder (ASD) propose an interaction between risk susceptibility and the infant's social environment, resulting in a progressively atypical developmental trajectory.
Johnson, Mark   +12 more
core   +1 more source

Efficacy of clonidine and melatonin for treating insomnia in anxious children: a randomized comparison

open access: yesBMC Pediatrics
Background Clonidine and melatonin are two medications that are used off-label in the management of sleep disorders in children. However, there is currently no well-established and effective treatment for sleep disturbances among pediatric patients with ...
Ali Jalali Firouzkohi   +4 more
doaj   +1 more source

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

open access: yesAmerican 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   +7 more
wiley   +1 more source

New Hampshire commission on autism spectrum disorders, findings and recommendations

open access: yes, 2008
Report of the New Hampshire Commission on Autism Spectrum Disorders\u27 findings, as well as goals and recommendations to improve detection and treatment of autism ...
New Hampshire Commission on Autism Spectrum Disorders
core  

The predictors of sleep quality in mothers of children with autism spectrum disorders in the west of Iran: A path analysis

open access: yesHeliyon
There is limited data available on the impact of sleep problems in children with ASD on parents' sleep quality. Due to the lack of research in Iran on factors affecting the sleep quality of mothers of children with ASD, this study was designed to explore
Ensiyeh Jenabi   +5 more
doaj   +1 more source

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

open access: yesAmerican 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   +6 more
wiley   +1 more source

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