The state of research on the genetics of autism spectrum disorder: methodological, clinical and conceptual progress.
Journal
Current opinion in psychology
ISSN: 2352-2518
Titre abrégé: Curr Opin Psychol
Pays: Netherlands
ID NLM: 101649136
Informations de publication
Date de publication:
06 2019
06 2019
Historique:
received:
31
05
2018
accepted:
17
07
2018
pubmed:
31
7
2018
medline:
16
7
2020
entrez:
31
7
2018
Statut:
ppublish
Résumé
Autism spectrum disorder (ASD) is a behaviorally heterogeneous disorder with a strong genetic component, as evidenced by decades of twin and family studies. In recent years, enhanced methods of genomic sequencing have revealed that structural variation and mutations to both coding and non-coding regions of single, candidate genes may account for more than 30% of ASD cases. The current review highlights a genotype-first approach that builds upon these molecular findings to parse the heterogeneity of ASD. Advantages of this approach include strong potential for precision medicine diagnosis and treatment, as well as opportunity to advance basic science research on neurodevelopmental disorders. Psychosocial benefits of identifying genetic subtypes of ASD have already been realized through social networking, comprehensive clinical phenotyping, and increased awareness among providers of rare genetic mutations.
Identifiants
pubmed: 30059871
pii: S2352-250X(18)30099-X
doi: 10.1016/j.copsyc.2018.07.004
pmc: PMC7849459
mid: NIHMS1662511
pii:
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
1-5Subventions
Organisme : NIMH NIH HHS
ID : K99 MH116064
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH100047
Pays : United States
Informations de copyright
Published by Elsevier Ltd.
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