"If He Has it, We Know What to Do": Parent Perspectives on Familial Risk for Autism Spectrum Disorder

Area of Science:

• Child development
• Neurodevelopmental disorders
• Genetics and heredity

Background:

• Familial disorders, particularly those with childhood onset like autism spectrum disorder (ASD), present opportunities for predictive testing to inform healthcare and reproductive choices.
• Limited understanding exists regarding how parents perceive their child's risk for familial disorders during the presymptomatic period.
• This study focuses on parents of infants with a high familial risk for ASD, examining their risk perceptions before any diagnosis.

Purpose of the Study:

• To investigate parent perceptions of risk for autism spectrum disorder (ASD) in infants with a high familial risk.
• To understand the emotional and behavioral responses of parents during the presymptomatic period for ASD.
• To inform future strategies for presymptomatic testing and support for families.

Main Methods:

• Conducted semistructured interviews with 37 parents of infants identified as high familial risk for ASD.
• Focused on the presymptomatic window (3-15 months) preceding a potential ASD diagnosis.
• Coded and analyzed interview responses to identify key themes in parent risk perception.

Main Results:

• Most parents acknowledged the elevated risk of ASD for their infants, often comparing it to their older child diagnosed with ASD.
• Parents reported negative emotions such as worry and fear, alongside behavioral changes like increased vigilance and modified healthcare/reproductive decisions.
• Parents actively sought ongoing assessment, including participation in research studies.

Conclusions:

• Parents navigating high familial risk for childhood-onset disorders like ASD experience considerable uncertainty during early development.
• Understanding parental reactions to elevated, yet uncertain, familial risk is vital for developing effective support systems and anticipating the implications of future presymptomatic ASD testing.