Parents' perceptions of autism spectrum disorder etiology and recurrence risk and effects of their perceptions on family planning: Recommendations for genetic counselors.
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.
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ABSTRACT: Several studies support currently the hypothesis that autism etiology is based on a polygenic and epistatic model. However, despite advances in epidemiological, molecular and clinical genetics, the genetic risk factors remain difficult to identify, with the exception of a few chromosomal disorders and several single gene disorders associated with an increased risk for autism. Furthermore, several studies suggest a role of environmental factors in autism spectrum disorders (ASD). First, arguments for a genetic contribution to autism, based on updated family and twin studies, are examined. Second, a review of possible prenatal, perinatal and postnatal environmental risk factors for ASD are presented. Then, the hypotheses are discussed concerning the underlying mechanisms related to a role of environmental factors in the development of ASD in association with genetic factors. In particular, epigenetics as a candidate biological mechanism for gene X environment interactions is considered and the possible role of epigenetic mechanisms reported in genetic disorders associated with ASD is discussed. Furthermore, the example of in utero exposure to valproate provides a good illustration of epigenetic mechanisms involved in ASD and innovative therapeutic strategies. Epigenetic remodeling by environmental factors opens new perspectives for a better understanding, prevention and early therapeutic intervention of ASD.Frontiers in Psychiatry 08/2014;
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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.
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ABSTRACT: The purpose of this study was to assess use of genetic testing and corresponding genetic services for children with Autism Spectrum Disorder (ASD). Survey data from 397 parents of individuals with ASD was collected using the Center for Autism and Related Disabilities client registry. Participants reported that 41.2% of the individuals with ASD had undergone any type of genetic testing. However, only 21.3% of individuals with ASD had been referred to a genetics specialist. Diagnosis and level of functioning were significantly associated with both referral to a genetics specialist and having undergone any genetic testing. In addition, Hispanic ancestry was associated with increased referral to genetic testing. Concerns about the limited benefits of genetic testing and prohibitive costs were potential barriers to pursuing genetic testing. Overall, low numbers of individuals with ASD have a history of undergoing genetic testing or receiving genetic services. Possible reasons include low referral rates as well as concerns by parents about cost and relevance, and lack of availability. These findings confirm the historical trend for providing genetic testing and genetic services to those with the greatest impairments. © 2014 Wiley Periodicals, Inc.American Journal of Medical Genetics Part A 08/2014; 164(10). · 2.30 Impact Factor