Parents’ Perceptions of Autism Spectrum Disorder Etiology and Recurrence Risk and Effects of their Perceptions on Family Planning: Recommendations for Genetic Counselors

The Center for Medical Genetics, NorthShore University HealthSystem, Evanston, IL 60201, USA.
Journal of Genetic Counseling (Impact Factor: 2.24). 07/2009; 18(5):507-19. DOI: 10.1007/s10897-009-9233-0
Source: PubMed


Knowledge about the etiology of Autism Spectrum Disorders (ASDs) is increasing, but causes remain elusive for most cases. Genetic counselors are positioned to help families that have children with ASDs despite uncertainty regarding etiology. To determine how genetic counselors might best provide services, an anonymous survey was conducted with 255 parents whose children were diagnosed on the autism spectrum. Questions concerned: 1) their perceptions of ASD cause(s) and 2) recurrence risk, 3) whether perceived risk affected family planning decisions, 4) whether parents had received genetic services, and 5) how genetic counselors might assist families. The most prevalent perceived cause was genetic influences (72.6%). Most parents' recurrence risk perceptions were inaccurately high and significantly affected family planning. Only 10% had seen a genetic professional related to an ASD. Parents provided several suggestions for genetic counselor best practices. Findings indicate the importance of genetic counselor awareness of parent perceptions in order to best help families who have children with ASDs.

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    • "4) Last of all, an early and clear diagnosis can also be important for family planning as twin studies have shown a high heritability for autism. It might influence the parents' considerations into new childship (Selkirk, McCarthy Veach, Lian, Schimmenti, & LeRoy, 2009) considering the potential burden it can bring along. Autism can have severe consequences in many areas of life for the child, the family, and relatives (McGovern & Sigman, 2005) (Seltzer, et al., 2013). "
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    ABSTRACT: The objective of this study was to identify differences between and determine predictors for Autistic Disorder (AD) and Pervasive developmental disorder not otherwise specified (PDD-NOS). The motivation behind this is that the criteria for PDD-NOS stated in the Diagnostic and Statistical Manual of Mental Disorders - fourth edition (DSM-4) are ambiguous and need clarification in order to formulate more precise and validated criteria. Differences and predictors were derived from the Health of the Nation Outcome Scales for Children and Adolescents (HoNOSCA), a questionnaire which is conducted as part of Routine Outcome Monitoring in mental health institutions. Participants originated from a pool of individuals who were assessed at the child- and adolescent psychiatric department of the University Medical Centre Utrecht (The Netherlands). Seventy-two children and adolescents with AD (mean age 9.5 years, SD= 4.2) and 75 with PDD-NOS (mean age 9.6 years, SD= 4.2) were included and analyzed with on 15 items of the HoNOSCA. Independent sample T-test showed that the AD subgroup displayed significantly more problems on the items ‘overactivity, attention or concentration’, ‘scholastic or language skills’ and ‘self-care and independence’ whereas the PDD-NOS subgroup displayed significantly more problems regarding ‘emotional and related symptoms’. Binary logistic regression revealed that more problems on ‘overactivity, attention or concentration’, ‘self-care and independence’ and ‘disruptive, antisocial or aggressive behavior’ are predictive for AD rather than PDD-NOS with respectively OR of 2.06 (95%C.I. 1.34-3.18), 1.75 (95%C.I. 1.30-2.36) and 1.32 (95%C.I. 1.00-1.75). More ‘emotional and related symptoms’ predicted PDD-NOS rather than AD with an OR 1.79 (95%C.I. 1.28-2.49). The HoNOSCA could serve as a rapid and cost-effective instrument to help identify cases of AD and PDD-NOS. Emotional and related symptoms may be useful to formulate new and more precise criteria for PDD-NOS.
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    • "Indeed, one mother reported, " When I talked about my concerns with my psychiatrist and our thoughts about another child, he was sort of discouraging because he said that one of his colleagues has two Asperger's kids and how tough it is " (ALHS). In another study, Selkirk et al. (2009) report that out of the 220 parents of children with ASD who provided written comments about factors related to their family planning decisions, 52 (23.6 percent) explicitly mentioned recurrence risk. Parents who believe that autism is not genetic but rather caused by an avoidable exposure more often report deciding to have more children after an autism diagnosis. "

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    • "We cannot exclude that the results from the US sample reflect unavailability of genetic testing for older patients. However, the percentage of US families reporting genetic testing in our survey is similar to that found in two recent studies based on a direct interview (50) and an anonymous survey (49). Finally, possible biases due to local variation of accessibility to genetic testing cannot be adjusted in such an internet survey as far as anonymity prevented collection of participant’s addresses. "
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    ABSTRACT: Background: There are many societal and cultural differences between healthcare systems and the use of genetic testing in the US and France. These differences may affect the diagnostic process for autism spectrum disorder (ASD) in each country and influence parental opinions regarding the use of genetic screening tools for ASD. Methods: Using an internet-based tool, a survey of parents with at least one child with ASD was conducted. A total of 162 participants from the US completed an English version of the survey and 469 participants from France completed a French version of the survey. Respondents were mainly females (90%) and biological parents (94.3% in the US and 97.2% in France). Results: The mean age of ASD diagnosis reported was not significantly different between France (57.5 ± 38.4 months) and the US (56.5 ± 52.7 months) (p = 0.82) despite significant difference in the average age at which a difference in development was first suspected [29.7 months (±28.4) vs. 21.4 months (±18.1), respectively, p = 7 × 10−4]. Only 27.8% of US participants indicated that their child diagnosed with ASD had undergone diagnostic genetic testing, whereas 61.7% of the French participants indicated this was the case (p = 2.7 × 10−12). In both countries, the majority of respondents (69.3% and 80% from France and the US, respectively) indicated high interest in the use of a genetic screening test for autism. Conclusion: Parents from France and the US report a persistent delay between the initial suspicion of a difference in development and the diagnosis of ASD. Significantly fewer US participants underwent genetic testing although this result should be regarded as exploratory given the limitations. The significance of these between country differences will be discussed.
    Frontiers in Pediatrics 04/2014; 2:32. DOI:10.3389/fped.2014.00032
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