Results 71 to 80 of about 110,801 (250)

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

The Hemoglobin-to-Red Cell Distribution Width Ratio and Systemic Inflammatory Response Index in Children with Autism Spectrum Disorder

Neuropsychiatric Investigation
Objective: Inflammation is reported to play an important role in the etiology of autism spectrum disorder. The purpose of this study was to investigate hemoglobin-to-red blood cell distribution width ratio (HRR) and systemic inflammatory response index ...
Orhan Kocaman, Tacettin Kuru, Tayfun Kara, Pınar Aydoğan Avşar   +3 more
doaj   +1 more source

Electroencephalography in Autism Spectrum Disorder

Journal of Clinical Medicine
Background/Objectives: Electroencephalography (EEG) has been widely used to differentiate individuals with autism spectrum disorder (ASD) and co-occurring conditions, particularly epilepsy. However, the relationship between EEG abnormalities and core features of ASD remains unclear.
Magdalena Hankus, Patrycja Ochman-Pasierbek, Malwina Brzozowska, Pasquale Striano, Justyna Paprocka   +4 more
openaire   +2 more sources

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

Comparison of cognitive ability and its distribution between men with autism spectrum disorder and attention-deficit/hyperactivity disorder.

PLoS ONE
ObjectivesClarification of the strengths and weaknesses of cognitive ability is essential to our understanding of the characteristics of autism spectrum disorder and attention deficit/hyperactivity disorder.
Hirokazu Doi, Yoshifumi Nakamura, Ayaka Nakai, Chieko Kanai, Haruhisa Ohta   +4 more
doaj   +1 more source

Everyday executive function and adaptive skills in children and adolescents with autism spectrum disorder: Cross-sectional developmental trajectories

Autism and Developmental Language Impairments, 2018
Background and aims The development of Executive Function in Autism Spectrum Disorder has been investigated using mainly performance-based executive function measures. Less is known about the development of everyday executive function skills. The present
Evangelia-Chrysanthi Kouklari, Stella Tsermentseli, Claire P Monks   +2 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

USE OF ROBOT IN THE EDUCATION OF INDIVIDUALS WITH AUTISM SPECTRUM DISORDER

Trakia Journal of Sciences
OBJECTIVE: In this study, it was aimed to examine the importance of robot use in the education of individuals with autism spectrum disorder.METHOD: This study was designed as a literature review since it was aimed to examine the importance of the use of ...
M. Yavuz, H. Nuri
doaj   +1 more source

Autism spectrum disorder

Current Opinion in Psychiatry, 2017
Until recently, there has been little systematic study of adult life among individuals with autism spectrum disorder (ASD) but recognition of the high psychological and social costs of ASD has led to an increase in adult-focused research over the past decade.
Howlin, Patricia, Magiati, Iliana
openaire   +3 more sources

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