This study examined the experiences of Autism Spectrum Disorder (ASD) genetic testing among parents of children with ASD. A nationwide sample of 552 parents of children with ASD completed an online survey. Nearly one-quarter (22.5%) of the parents reported that their affected children had undergone ASD genetic testing. The testing utilization was associated with awareness of ASD genetic testing and whether information was received from healthcare providers. Among parents whose children with ASD were tested, 37.6% had negative experiences, which mainly due to lack of perceived testing benefits to their affected children and unpleasant testing experiences with healthcare providers. To provide better healthcare services, it is critical to ensure parents understand the purposes, benefits, and results of ASD genetic testing.

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10803-019-04200-zDOI Listing

Publication Analysis

Top Keywords

genetic testing
20
parents children
16
asd genetic
16
children asd
12
testing experiences
8
autism spectrum
8
spectrum disorder
8
healthcare providers
8
asd
7
testing
7

Similar Publications

Background: Modern assisted reproductive technology (ART), including pre-implantation genetic testing for aneuploidy (PGT-A), has opened new avenues in understanding early embryonic events and has simultaneously raised questions about the impact of ART itself on sex ratios.

Aims: The primary aim was to investigate whether patient demographic characteristics, ovarian stimulation protocols or laboratory characteristics in ART influence sex ratios. The secondary aim was to relate the blastocyst sex ratio (BSR) to the corresponding secondary sex ratio (SSR) in our patient cohort.

View Article and Find Full Text PDF

Multi-gene panel testing allows efficient detection of pathogenic variants in cancer susceptibility genes including moderate-risk genes such as ATM and PALB2. A growing number of studies examine the risk of breast cancer (BC) conferred by pathogenic variants of these genes. A meta-analysis combining the reported risk estimates can provide an overall estimate of age-specific risk of developing BC, that is, penetrance for a gene.

View Article and Find Full Text PDF

The patient was a 33-year-old woman with no family history of a similar disorder. At one year of age, she exhibited scoliosis and respiratory failure, necessitating a tracheostomy performed at 5 years of age (1990s). During that time, the patient was provisionally diagnosed with "non-Fukuyama congenital muscular dystrophy" via muscle biopsy.

View Article and Find Full Text PDF

In Japan, there are no nationwide guidelines for presymptomatic testing for hereditary neuromuscular diseases. Although each institution has been dealing with this situation by using their own procedures to date, it is necessary to develop a standardized guidelines based on the Japanese medical system, because the development of disease-modifying therapies has progressed, and we are entering an era in which early diagnosis and early treatment are necessary. The guidelines presented here were devised by the Committee on Medical Genetics of the Japan Neurological Society.

View Article and Find Full Text PDF

The integration of genomics into personalized medicine has the potential to transform healthcare by customizing treatments according to individual genetic profiles. This paper examines the diverse applications of genomics, including the identification of disease susceptibility, improvement of diagnostic methods, optimization of drug therapies, and monitoring of treatment responses. It also explores the expanding global market for genetic testing and the increasing implementation of whole-genome sequencing in clinical practice, with a focus on pilot programs that are advancing comprehensive genomic analysis.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!