Identification, evaluation, and management of children with autism spectrum disorder

SL Hyman, SE Levy, SM Myers, DZ Kuo, S Apkon… - …, 2020 - publications.aap.org
Autism spectrum disorder (ASD) is a common neurodevelopmental disorder with reported
prevalence in the United States of 1 in 59 children (approximately 1.7%). Core deficits are …

Genetic testing in neurodevelopmental disorders

JM Savatt, SM Myers - Frontiers in Pediatrics, 2021 - frontiersin.org
Neurodevelopmental disorders are the most prevalent chronic medical conditions
encountered in pediatric primary care. In addition to identifying appropriate descriptive …

Autism genetics: opportunities and challenges for clinical translation

JAS Vorstman, JR Parr, D Moreno-De-Luca… - Nature Reviews …, 2017 - nature.com
Genetic studies have revealed the involvement of hundreds of gene variants in autism. Their
risk effects are highly variable, and they are frequently related to other conditions besides …

Psychosocial effect of newborn genomic sequencing on families in the BabySeq Project: a randomized clinical trial

S Pereira, HS Smith, LA Frankel… - JAMA …, 2021 - jamanetwork.com
Importance Newborn genomic sequencing (nGS) may provide health benefits throughout
the life span, but there are concerns that it could also have an unfavorable (ie, negative) …

Personal utility in genomic testing: a systematic literature review

JN Kohler, E Turbitt, BB Biesecker - European Journal of Human …, 2017 - nature.com
Researchers and clinicians refer to outcomes of genomic testing that extend beyond clinical
utility as 'personal utility'. No systematic delineation of personal utility exists, making it …

Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)

MT Carter, M Srour, PYB Au, D Buhas… - Journal of Medical …, 2023 - jmg.bmj.com
Purpose and scope The aim of this position statement is to provide recommendations for
clinicians regarding the use of genetic and metabolic investigations for patients with …

Opening Pandora's box?: ethical issues in prenatal whole genome and exome sequencing

R Horn, M Parker - Prenatal diagnosis, 2018 - Wiley Online Library
Objective The development of genomic approaches to prenatal testing such as whole
genome and exome sequencing offers the potential for a better understanding of prenatal …

Perceived benefits, risks, and utility of newborn genomic sequencing in the BabySeq Project

S Pereira, JO Robinson, AM Gutierrez… - …, 2019 - publications.aap.org
BACKGROUND AND OBJECTIVES: There is interest in applying genomic sequencing (GS)
to newborns' clinical care. Here we explore parents' and clinicians' attitudes toward and …

Impact of a Genetic Diagnosis for a Child's Autism on Parental Perceptions

J Wynn, A Karlsen, B Huber, A Levine, A Salem… - Journal of Autism and …, 2024 - Springer
Genetic testing is recommended as part of an autism assessment, and most parents support
genetic testing for their minor children. However, the impact on parents of receiving a …

Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders using an ultra-high resolution chromosomal microarray optimized for …

KS Ho, ER Wassman, AL Baxter, CH Hensel… - International journal of …, 2016 - mdpi.com
Copy number variants (CNVs) detected by chromosomal microarray analysis (CMA)
significantly contribute to understanding the etiology of autism spectrum disorder (ASD) and …