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 …

Parents' attitudes toward genetic testing of children for health conditions: a systematic review

Q Lim, BC McGill, VF Quinn, KM Tucker… - Clinical …, 2017 - Wiley Online Library
This review assessed parents' attitudes toward childhood genetic testing for health
conditions, with a focus on perceived advantages and disadvantages. We also evaluated …

The power of words: Is qualitative research as important as quantitative research in the study of autism?

S Bölte - Autism, 2014 - journals.sagepub.com
Honestly, who among us was properly academically trained to conduct qualitative research?
Who can spontaneously cite a qualitative study of autism, or would say his or her favorite …

[HTML][HTML] Exploring Autistic adults' perspectives on genetic testing for autism

L Byres, E Morris, J Austin - Genetics in Medicine, 2023 - Elsevier
Purpose This study aimed to investigate the perspectives of Autistic adults regarding genetic
testing for autism. Although previous studies have explored the perceptions of genetic …

Parents' perceptions of the usefulness of chromosomal microarray analysis for children with autism spectrum disorders

M Reiff, E Giarelli, BA Bernhardt, E Easley… - Journal of autism and …, 2015 - Springer
Clinical guidelines recommend chromosomal microarray analysis (CMA) for all children with
autism spectrum disorders (ASDs). We explored the test's perceived usefulness among …

Clinical genetic testing in autism spectrum disorder in a large community-based population sample

D Moreno-De-Luca, BC Kavanaugh, CR Best… - JAMA …, 2020 - jamanetwork.com
Methods| This study was approved by the institutional review board at Lifespan, and all
participants provided written informed consent. We analyzed self-report data and medical …

[HTML][HTML] The value of diagnostic testing for parents of children with rare genetic diseases

DA Marshall, KV MacDonald, S Heidenreich… - Genetics in …, 2019 - Elsevier
Purpose Exome sequencing (ES) can rapidly identify disease-causing variants responsible
for rare, single-gene diseases, and potentially reduce the duration of the diagnostic odyssey …

Contributing to an autism biobank: diverse perspectives from autistic participants, family members and researchers

R Lilley, H Rapaport, R Poulsen, M Yudell… - Autism, 2024 - journals.sagepub.com
There has been intense debate within the autistic and autism communities about the use of
autism biobanks–repositories containing biological and phenotypic materials–and of …

[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 …

Parents' attitudes toward clinical genetic testing for autism spectrum disorder—data from a Norwegian sample

J Johannessen, T Nærland, S Hope, T Torske… - International Journal of …, 2017 - mdpi.com
Clinical genetic testing (CGT) of children with autism spectrum disorder (ASD) may have
positive and negative effects. Knowledge about parents' attitudes is needed to ensure good …