Pathogenic yield of genetic testing in autism spectrum disorder

HK Harris, GD Sideridis, WJ Barbaresi, E Harstad - Pediatrics, 2020 - publications.aap.org
METHODS: We conducted a retrospective chart review of 500 toddlers, 18 to 36 months,
diagnosed with Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition ASD …

Genetic testing for autism spectrum disorders

SC Bauer, ME Msall - Developmental disabilities research …, 2011 - Wiley Online Library
Children with autism spectrum disorders (ASD) have unique developmental and behavioral
phenotypes, and they have specific challenges with communication, social skills, and …

[HTML][HTML] State of the art of genetic testing for patients with autism: a practical guide for clinicians

BL Kreiman, RG Boles - Seminars in Pediatric Neurology, 2020 - Elsevier
The explosion in knowledge, technology, and clinical capabilities regarding genetics and
genetic testing has expanded greatly in recent years, and these gains have rapidly been …

Clinical genetic testing for patients with autism spectrum disorders

Y Shen, KA Dies, IA Holm, C Bridgemohan… - …, 2010 - publications.aap.org
BACKGROUND: Multiple lines of evidence indicate a strong genetic contribution to autism
spectrum disorders (ASDs). Current guidelines for clinical genetic testing recommend a G …

Diagnostic yield of genetic testing in children diagnosed with autism spectrum disorders at a regional referral center

J Roesser - Clinical pediatrics, 2011 - journals.sagepub.com
The aim was to systematically review genetic testing guidelines in the evaluation of children
with autism spectrum disorders (ASDs). The Clinical Report published by the American …

[HTML][HTML] Pathways from autism spectrum disorder diagnosis to genetic testing

KS Barton, HK Tabor, H Starks, G Nanibaa'A… - Genetics in …, 2018 - Elsevier
Purpose This study examined challenges faced by families and health providers related to
genetic testing for autism spectrum disorder (ASD). Methods This qualitative study of 14 …

Autism spectrum disorder and genetic testing: Parental perceptions and decision‐making

AE Hanish, MZ Cohen, LJ Starr - Journal for Specialists in …, 2018 - Wiley Online Library
Purpose Advances in genomic technology and research have led to genetic testing being
recognized as an essential component of the etiological workup for children with autism …

Brief report: pediatrician perspectives regarding genetic evaluations of children with autism spectrum disorder

A Rutz, KM Dent, LD Botto, PC Young… - Journal of autism and …, 2019 - Springer
Despite current guidelines, few children with autism spectrum disorder (ASD) receive
genetic evaluations. We surveyed Utah pediatricians to characterize the knowledge, beliefs …

[HTML][HTML] Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders

GB Schaefer, RE Lutz - Genetics in Medicine, 2006 - Elsevier
Purpose Clinical geneticists are often asked to evaluate patients with autism spectrum
disorders (ASDs) in reference to questions about cause and recurrence risk. Recent …

[HTML][HTML] Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder

A Munnich, C Demily, L Frugère, C Duwime, V Malan… - Molecular Autism, 2019 - Springer
Background Neurogenetics investigations and diagnostic yield in patients with autism
spectrum disorder (ASD) have significantly improved over the last few years. Yet, many …