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

Katherine E. MacDuffie, PHD; Lauren Turner-Brown, PHD; Annette M. Estes, PHD; Benjamin S. Wilfond, MD; Stephen R. Dager, MD; Juhi Pandey, PHD; Lonnie Zwaigenbaum, MSC, MD; Kelly N. Botteron, MD; John R. Pruett Jr, MD, PHD; Joseph Piven, MD; Holly L. Peay, PHD, MS

Disclosures

J Pediatr Psychol. 2020;45(2):121-130. 

In This Article

Abstract and Introduction

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.

Introduction

Presymptomatic prediction of heritable health conditions has received considerable research investment given the potential to improve outcomes through earlier identification and treatment. In children, predictive testing is generally recommended only in situations where effective early intervention is readily available (Borry et al., 2006; AAP/ACMG, 2013). For potentially life-threatening disorders with onset in childhood (e.g., hereditary cancers; Kodish, 1999), the motivation for presymptomatic identification and intervention is clear. Psychiatric and neurodevelopmental disorders of childhood, in contrast, present a complex set of clinical and ethical questions about the implications and utility of predictive testing. A validated predictive test could provide a more precise risk estimate than empiric risk based on family history alone, but could also create a situation in which knowledge of risk is not accompanied by options for presymptomatic intervention (Erickson et al., 2014).

Autism spectrum disorder (ASD) is an example of a neurodevelopmental disorder for which considerable research effort has been made towards earlier prediction and identification. ASD affects approximately 1.7% of U.S. children (Centers for Disease Control and Prevention, 2018) and is highly heritable (Tick, Bolton, Happé, Rutter, & Rijsdijk, 2016). Parents of children with ASD are aware of its heritability, and tend to overestimate the recurrence risk to subsequently-born children (Chen et al., 2015; Mercer, Creighton, Holden, & Lewis, 2006; Selkirk, McCarthy Veach, Lian, Schimmenti, & LeRoy, 2009; Whitelaw, Flett, & Amor, 2007). Knowledge of familial risk alone may impact healthcare and reproductive decisions in parents of children with ASD. For example, parents with one child with ASD are less likely to fully vaccinate subsequently born children (Zerbo et al., 2018), and may decide to forgo future childbearing (Selkirk et al., 2009; Wood et al., 2015).

Currently for the large majority of families there is no predictive test for ASD; however, in the research context, patterns of alteration in brain structure and function have been shown to be highly accurate in predicting later ASD diagnosis in infants at high familial risk (with positive predictive values of 81% and 100% and sensitivities of 88% and 82% for structural and functional findings, respectively; Emerson et al., 2017; Hazlett et al., 2017). These reports demonstrate that brain changes detectable on MRI occur during infancy, prior to the onset of symptoms; however, these findings require replication before MRI prediction can be used clinically. Infants identified presymptomatically could be closely monitored and enrolled in interventions as soon as symptoms emerge (typically between 18 and 24 months). Improved risk estimates could also enable research trials of preventive interventions in infancy.

Whether parents would seek a predictive MRI test to increase the precision of the estimate of their infant's risk for ASD is unknown, however. Some parents may, in fact, prefer the uncertainty of a less precise risk estimate (Meiser & Dunn, 2000; Peay, Hooker, Kassem, & Biesecker, 2009; Whitmarsh, Davis, Skinner, & Bailey, 2007). In anticipation of 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. Prior work suggests that parents who report more uncertainty about a child's undiagnosed illness also feel that they have less control over the child's health (Madeo, O'Brien, Bernhardt, & Biesecker, 2012). If this generalizes to the context of familial risk for ASD, parents experiencing the greatest uncertainty may have more difficulty coping in the first years of their child's life. Parental sense of self-efficacy and adaptive coping (which both contribute to improved family functioning in ASD; Estes, Swain, & MacDuffie, 2019) could potentially be increased by obtaining more precise risk estimates via predictive testing.

The goal of the current study was to gain insight into how parents perceive and respond to their child's familial risk for ASD. Specifically, we sought to explore parent perspectives of risk in order to better understand what might motivate parents to seek (or not seek) predictive ASD testing if it becomes available. We leveraged existing qualitative data collected from parents of infants at high familial risk for ASD (by virtue of having an older sibling with ASD) who were enrolled in a longitudinal study of brain and behavior development from 3 through 24 months of age. Parent interviews were conducted as part of a supplemental study designed to investigate parent beliefs about early autism risk and associations with parenting stress, coping, and family functioning.

These interviews provided an opportunity to investigate parent perspectives on ASD risk that was distinct from prior work in two ways. First, the interviews were conducted during the presymptomatic window (3–15 months) that precedes an ASD diagnosis. During this period, perceptions of an infant's ASD risk can influence parental decision-making (e.g., Zerbo et al., 2018), and potentially impact developmental outcomes. Prior studies have described the impact of perceived recurrence risk on reproductive choices (Chen et al., 2015; Mercer et al., 2006; Selkirk et al., 2009; Whitelaw et al., 2007), but have not explored how parental risk perceptions may impact the experience of parenting an infant at elevated risk. A second unique feature is that participants were parents enrolled in a longitudinal neuroimaging study. This group may differ from parents of infants at high familial risk who are not enrolled in research (see Limitations section for additional discussion), but are likely similar to those parents who would be the earliest adopters of a future MRI-based predictive test for ASD. For these reasons, we felt that these previously collected data were particularly well-suited for investigating our questions of interest.

Through content analysis of parent interview data, we sought to (a) assess perceptions of ASD recurrence risk in a sample of parents who have at least one child with ASD and an infant enrolled in a prospective neuroimaging study, (b) explore common factors that influence risk perception, and (c) gain insight into how these parents respond to and cope with perceived risk to their infant. By gaining a better understanding of the experience of these parents in relation to their child's ASD risk, we can improve our predictions about what might motivate families to seek more precise risk estimates when/if a validated predictive test becomes available. In addition, knowledge generated from these interviews could inform the development of responsive supports and clinical services for families of infants at high risk for ASD.

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