Parental attitudes and experiences in pursuing genetic testing for their child's motor speech disorder.

Abstract

Rare and typically severe motor speech disorders such as childhood apraxia of speech (CAS) and dysarthria affect about 1 in 1000 children. The genetic basis of these speech disorders is well-documented, with approximately 30% of children who undergo genomic testing receiving an explanatory genetic diagnosis. As more children with speech disorders are offered genetic testing, understanding parental views and experiences around genetic testing for their child is critical in providing effective pre- and post-test genetic counselling. This research explored parental attitudes, experiences, and perceived implications of pursuing genetic testing for their child with motor speech disorder. Semi-structured interviews were conducted with 20 parents of children with CAS or dysarthria who had undergone exome sequencing. Eight parents had received a genetic diagnosis for their child and 12 received uninformative genetic test results. Interviews were transcribed verbatim, co-coded, and analysed using reflexive thematic analysis. Parents were highly motivated to pursue genetic testing for their child's speech disorder due to the perceived personal, clinical, social, and financial utility in obtaining a genetic diagnosis. Regardless of testing outcome, parents experienced complex emotional responses in receiving their child's genetic test results. Parents whose child received a genetic diagnosis reported improved access to funding and clinical care; however, they also hoped for ongoing informational, clinical, and peer support in navigating the uncertainty surrounding their child's rare diagnosis. Conversely, parents who received uninformative genetic test results reported finding meaning in this test outcome, and used emotional-focused and problem-focused strategies to cope with their child's continued diagnostic odyssey.