Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting.
Adolescent
Autism Spectrum Disorder
/ diagnostic imaging
Causality
Child
Child Behavior
Child, Preschool
Cognition
Comorbidity
Congenital Abnormalities
/ genetics
DNA Copy Number Variations
/ genetics
Electroencephalography
Epilepsy
/ etiology
Female
Humans
Magnetic Resonance Imaging
Male
Microcephaly
/ diagnostic imaging
Neuropsychological Tests
Phenotype
CNV
autism severity
autism spectrum disorder
dysmorphism
microcephaly
Journal
International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
ISSN: 1873-474X
Titre abrégé: Int J Dev Neurosci
Pays: United States
ID NLM: 8401784
Informations de publication
Date de publication:
Jun 2020
Jun 2020
Historique:
received:
26
01
2020
revised:
06
03
2020
accepted:
06
03
2020
pubmed:
12
3
2020
medline:
30
3
2021
entrez:
12
3
2020
Statut:
ppublish
Résumé
Autism spectrum disorder (ASD) is associated with various molecular mechanisms including copy number variants (CNVs). We investigated possible associations between CNVs and ASD clinical correlates. We evaluated pertinent physical characteristics and phenotypic measures such as cognitive level, severity of ASD symptoms and comorbid conditions in ASD patients consecutively recruited over the study period. Children with causative (C-CNVs), non-causative (NC-CNVs) and without CNVs (W-CNVs) were compared. Out of 109 patients, 31 imbalances (16 duplications and 15 deletions) were detected in 25 subjects. Seven (6.4%) had C-CNVs and 18 (16.5%) had NC-CNVs. Paired post hoc comparisons with Bonferroni adjustment showed that dysmorphisms and microcephaly were significantly more frequent in the C-CNVs group. Patients with C-CNVs had more severe autistic core symptoms, while comorbid internalizing behavioral symptoms were more represented among participants with NC-CNVs. No significant differences were observed for distribution of macrocephaly, intellectual disability, epilepsy, isolated electroencephalogram abnormalities and studied neuroimaging characteristics among groups. Recurrent and rare C-CNVs highlighting genes relevant to neurodevelopment had a statistically higher occurrence in children with more severe ASD symptoms and further developmental abnormalities. This study documents the importance of measuring the physical and neurobehavioural correlates of ASD phenotypes to unravel the underlying molecular mechanisms in patient subgroups.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
276-286Subventions
Organisme : Università di Catania
Informations de copyright
© 2020 International Society for Developmental Neuroscience.
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