Genetic Counseling in Neurodevelopmental Disorders

被引：34

作者：

Blesson, Alyssa ^{[1
]}

Cohenz, Julie S. ^{[2
,3
]}

机构：

[1] Kennedy Krieger Inst, Ctr Autism & Related Disorders, Baltimore, MD 21211 USA

[2] Kennedy Krieger Inst, Dept Neurol & Dev Med, Baltimore, MD 21205 USA

[3] Johns Hopkins Univ, Dept Neurol, Sch Med, Baltimore, MD 21205 USA

来源：

COLD SPRING HARBOR PERSPECTIVES IN MEDICINE | 2020年 / 10卷 / 04期

关键词：

DEVELOPMENTAL-DISABILITIES; DIAGNOSTIC-APPROACH; CLINICAL GENOME; CHILDREN; PARENTS; UNCERTAINTY; AUTISM; RISK; IDENTIFICATION; INDIVIDUALS;

D O I：

10.1101/cshperspect.a036533

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

Neurodevelopmental disorders (NDDs), including global developmental delay (GDD), intellectual disability (ID), and autism spectrum disorder (ASD), represent a continuum of developmental brain dysfunction. Although the etiology of NDD is heterogeneous, genetic variation represents the largest contribution, strongly supporting the recommendation for genetic evaluation in individuals with GDD/ID and ASD. Technological advances now allow for a specific genetic diagnosis to be identified in a substantial portion of affected individuals. This information has important ramifications for treatment, prognosis, and recurrence risk, as well as psychological and social benefits for the family. Genetic counseling is a vital service to enable patients and their families to understand and adapt to the genetic contribution to NDDs. As the demand for genetic evaluation for NDDs increases, genetic counselors will have a predominant role in the ongoing evaluation of NDDs, especially as identification of genetic etiologies has the potential to lead to targeted treatments for NDDs in the future.

引用

页数：14

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