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 …
prevalence in the United States of 1 in 59 children (approximately 1.7%). Core deficits are …
Genetic testing in neurodevelopmental disorders
Neurodevelopmental disorders are the most prevalent chronic medical conditions
encountered in pediatric primary care. In addition to identifying appropriate descriptive …
encountered in pediatric primary care. In addition to identifying appropriate descriptive …
Autism genetics: opportunities and challenges for clinical translation
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 …
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
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) …
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 …
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 …
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
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 …
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 …
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 …
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 …
significantly contribute to understanding the etiology of autism spectrum disorder (ASD) and …