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

Abstract

Objective Predictive testing for familial disorders can guide healthcare and reproductive decisions. Familial disorders with onset in childhood (e.g., autism spectrum disorder [ASD]) are promising targets for presymptomatic prediction; however, little is known about parent perceptions of risk to their children in the presymptomatic period. The current study examined risk perceptions in parents of infants at high familial risk for ASD enrolled in a longitudinal study of brain and behavior development. Methods Semistructured interviews were conducted with 37 parents of high-risk infants during the presymptomatic window (3–15 months) that precedes an ASD diagnosis. Infants were identified as high familial risk due to having an older sibling with ASD. Parent interview responses were coded and interpreted to distill emerging themes. Results The majority of parents were aware of the increased risk of ASD for their infants, and risk perceptions were influenced by comparisons to their older child with ASD. Parents reported a variety of negative emotions in response to perceived risk, including worry, fear, and sadness, and described impacts of perceived risk on their behavior: increased vigilance to emerging symptoms, altered reproductive and healthcare decisions, and seeking ongoing assessment through research. Conclusions Parents of children at high familial risk for childhood-onset disorders like ASD face a period of challenging uncertainty during early development. In anticipation of a future in which presymptomatic testing for ASD is made available, it is important to understand how parents react to and cope with the elevated—but still highly uncertain—risk conveyed by family history.

Early behavioral profiles elucidating vulnerability and resiliency to later ASD outcomes

“…Prospective longitudinal studies of HR siblings to date largely have endeavored to identify early markers for ASD. Yet given the prevalence of ASD, the public awareness efforts focused on early detection of ASD, and many parents’ concerns that their child may develop ASD (MacDuffie et al, 2019), empirically generated information about developmental indicators of resiliency to ASD is needed. Our results indicate that a developmental profile associated with low risk for ASD may be identified by age 14 months, even in HR siblings.…”

Ethical dimensions of translational developmental neuroscience research in autism

“…Some instead favour research that would shed light on the unique development of autistic individuals ( Fletcher-Watson et al, 2017 ). This may be particularly the case in families enrolled in early intervention trials, who likely have enhanced rates of autism traits or diagnosis, including in the parents themselves ( MacDuffie et al, 2020 ), and so may be against pathologizing autism.…”

“…Much less ethics scrutiny has been given to research efforts on early brain and cognitive development in the autism field and on the interventions being developed as a result. A few studies have investigated the autism community’s perspectives in this area ( MacDuffie et al, 2020 ), and issues concerning research priority setting (see Fletcher-Watson et al, 2017 ). This is an important gap because both similar and distinct ethical concerns to those related to autism genomic information may arise from increasing understanding of children’s neurodevelopment in very early life.…”

Parent-Mediated Interventions for Infants under 24 Months at Risk for Autism Spectrum Disorder: A Systematic Review of Randomized Controlled Trials

“…Naturally, parents with infants at risk for ASD would experience negative emotions associated with the burden of their children's additional needs (Freuler et al, 2014), and parenting stress can also interact with ASD screening scores to later effect developmental competence (Nguyen et al, 2019). With increased knowledge of the familial risk of ASD, parents of infant siblings have reported a range of negative emotions associated with the uncertainties in early years (MacDuffie et al, 2020). Parental mental health is an important consideration in future studies, on top of parenting styles (Dyches et al, 2012), engagement (Haine-Schlagel et al, 2020) and stress levels (Strauss et al, 2012).…”