Abstract

Clinical genetic testing (CGT) of children with autism spectrum disorder (ASD) may have positive and negative effects. Knowledge about parents’ attitudes is needed to ensure good involvement of caregivers, which is crucial for accurate diagnosis and effective clinical management. This study aimed to assess parents’ attitudes toward CGT for ASD. Parent members of the Norwegian Autism Society were given a previously untested questionnaire and 1455 answered. Linear regression analyses were conducted to evaluate contribution of parent and child characteristics to attitude statements. Provided it could contribute to a casual explanation of their child’s ASD, 76% would undergo CGT. If it would improve the possibilities for early interventions, 74% were positive to CGT. Between 49–67% agreed that CGT could have a negative impact on health insurance, increase their concern for the child’s future and cause family conflicts. Parents against CGT (9%) were less optimistic regarding positive effects, but not more concerned with negative impacts. The severity of the children’s ASD diagnosis had a weak positive association with parent’s positive attitudes to CGT (p-values range from <0.001 to 0.975). Parents prefer that CGT is offered to those having a child with ASD (65%), when the child’s development deviates from normal (48%), or before pregnancy (36%). A majority of the parents of children with ASD are positive to CGT due to possibilities for an etiological explanation.

Highlights

  • Autism spectrum disorder (ASD) is a set of heterogeneous conditions, characterized by early-onset difficulties in social communication and unusually restricted, repetitive behavior and interests [1]

  • The recurrence risk for a sibling of an affected child is about 10–20%, which increases to 30–50% if the child has more than one sibling with ASD [5]

  • The main result of this study is that parents of ASD individuals have a clearly positive view on Clinical genetic testing (CGT) for ASD

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Summary

Introduction

Autism spectrum disorder (ASD) is a set of heterogeneous conditions, characterized by early-onset difficulties in social communication and unusually restricted, repetitive behavior and interests [1]. The worldwide prevalence is about 1%, with a high global disease burden [2]. ASD is among the most heritable neurodevelopmental conditions [4]. The recurrence risk for a sibling of an affected child is about 10–20%, which increases to 30–50% if the child has more than one sibling with ASD [5]. The etiology is still largely unknown, it is clear that environmental factors are involved in addition to genetic susceptibility [1]. The etiology of ASD is very heterogeneous [6], and the search for genes that can explain the pathology is ongoing

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