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: 1.75). 07/2009; 18(5):507-19. DOI: 10.1007/s10897-009-9233-0
Source: PubMed

ABSTRACT 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.

  • Source
    • "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). "
    [Show abstract] [Hide abstract]
    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.
  • Source
    • "Some other studies have explicitly tried to control for stoppage effect (Hultman et al. (2010) by studying only laterborn children in families who have previously had similarly affected offspring. Stoppage is caused due to the fact that some parents may decide not to have any more children after their first child is diagnosed with ASD.(Jones and Szatmari 1988; Selkirk et al. 2009) For example, Zhao et al. (2007) studied the third-born children with ASD for this reason. "
    [Show abstract] [Hide abstract]
    ABSTRACT: Several studies have reported maternal and paternal age as risk factors for having a child with Autism Spectrum Disorder (ASD), yet the results remain inconsistent. We used data for 68 age- and sex-matched case-control pairs collected from Jamaica. Using Multivariate General Linear Models (MGLM) and controlling for parity, gestational age, and parental education, we found a significant (p < 0.0001) joint effect of parental ages on having children with ASD indicating an adjusted mean paternal age difference between cases and controls of [5.9 years; 95% CI (2.6, 9.1)] and a difference for maternal age of [6.5 years; 95% CI (4.0, 8.9)]. To avoid multicollinearity in logistic regression, we recommend joint modeling of parental ages as a vector of outcome variables using MGLM.
    Journal of Autism and Developmental Disorders 01/2012; 42(9):1928-38. DOI:10.1007/s10803-011-1438-z · 3.06 Impact Factor
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: In the last decade, major advances have been made in our understanding of the genetic basis of epilepsy. Genetic testing for over two dozen epilepsy-related genes is now clinically available, and healthcare providers who manage patients with epilepsy are faced with incorporating genetic information into their assessment and treatment plans. Although the clinical applications of genetic test results in the setting of epilepsy may be somewhat limited, an argument for the utility of testing can be made based upon the potential impact on treatment options, the ability to provide prognostic information, and the psychological, medical, and reproductive implications for patients and their family members. Clinicians who incorporate genetic testing into their evalua-tion of patients with epilepsy must be knowledgeable about epilepsy phenotypes and epilepsy genes, have expertise in eliciting a genetic family history that encompasses not only epilepsy but a broader range of relevant medical conditions, and possess a thor-ough understanding of genetic testing methods and outcomes. Given the complexity of genetic test results, it is crucial that informed consent to discuss the risks, benefits, and limitations of genetic testing take place with patients prior to testing. In addi-tion, many patients may benefit from genetic counseling to discuss testing options or results, address family impact or reproductive issues, and obtain access to support resources.
Show more