Perceived utility of biological testing for autism spectrum disorder is associated with child and family functioning.
Parents seek lab answers most when their autistic child struggles day-to-day but the family still feels like a working unit.
01Research in Context
What this study did
Yusuf et al. (2020) built a new parent questionnaire. It asks how useful parents think genetic or other lab tests would be for their autistic child.
Parents of children with autism filled out the new scale. They also rated their child’s behavior and how well the family works together.
What they found
Parents who saw their child as having more emotional or behavior problems gave higher utility scores to lab testing.
Yet these same parents also had to report good family teamwork. When both boxes were checked, the wish for biological testing was strongest.
How this fits with other research
Ruiz Calzada et al. (2012) talked with families years earlier. Those parents said a clear label helped them feel understood, but it could also bring stigma. Afiqah’s new numbers echo the same push-pull: parents want answers, but mainly when child stress is high and home life is steady.
Musetti et al. (2024) used the same survey style and showed that fewer child problems and secure parent attachment raise parental quality of life. Afiqah flips the lens: child problems still drive the parent’s view, but here the outcome is interest in testing, not life satisfaction.
Mello et al. (2019) found that lower child functioning predicted lower family quality of life in preschoolers. Afiqah’s sample was wider in age, yet the pattern holds—poorer child skills link to stronger parent opinions about outside tests.
Why it matters
You now have a quick scale that predicts which parents are likely to ask for genetic or metabolic work-ups. Use it during intake. If scores are high, pair medical referrals with family-level support so the home “team” stays strong while they wait for results.
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02At a glance
03Original abstract
BACKGROUND: The clinical integration of chromosomal microarray testing promises improvements in diagnostic yields in Autism Spectrum Disorder (ASD). While the impact on clinical management is promising for some families, the utility perceived by families, including the majority for whom results are negative, is unclear. With next generation genomic sequencing technologies poised for integration, along with promising ASD biomarkers being developed, there is a need to understand the extent to which genomic and other biological testing would have utility for the target recipients of these tests and their families. The purpose of the present cross-sectional study was to examine the predictors of perceived utility of biological testing among parents of a child with ASD. METHODS: The Perceived Utility of Biotesting (PUB) Questionnaire was developed based on literature review and integrating family review. Following their child's diagnosis, families participating in an ongoing prospective study completed the PUB questionnaire along with self-reported measures of parent stress, child and family functioning, and family-centered care prior to undergoing genetic testing for both clinical and research purposes. RESULTS: Based on n = 85 families, psychometric properties of the Perceived Utility of Biotesting questionnaire suggest a reliable and valid instrument. A stepwise regression analysis reveals that lower levels of child emotional and behavioural functioning and higher levels of family functioning correlated with higher perceived utility for biological testing. LIMITATIONS: A main limitation in the study is the participation rate of 50 %, thus the possibility of self-selection bias cannot be ruled out. We also chose to assess perceived utility among parents rather than the individuals with ASD themselves: modifying the questionnaire to capture perceived utility from autistic individuals across the lifespan would prove essential in future studies. Finally, ongoing validation of the PUB by assessing the PUB's discriminant and convergent validity is still needed. CONCLUSIONS: We conclude that the utility of biological testing perceived by families whose child is undergoing genetic testing around ASD diagnosis depends on their unique child and family characteristics. This signifies that engaging families in biomarker discovery for improving the impact of research and care requires systematic input from a representative sample of families.
Research in developmental disabilities, 2020 · doi:10.1016/j.ridd.2020.103605