Views of Genetic Testing for Autism Among Autism Self-Advocates: A Qualitative Study.

Background: Autism self-advocates' views regarding genetic tests for autism are important, but critical questions about their perspectives arise.

Methods: We interviewed 11 autism self-advocates, recruited through autism self-advocacy websites, for 1 h each.

Results: Interviewees viewed genetic testing and its potential pros and cons through the lens of their own indiviudal perceived challenges, needs and struggles, especially concerning stigma and discrimination, lack of accommodations and misunderstandings from society about autism, their particular needs for services, and being blamed by others and by themselves for autistic traits.

Impact of a Genetic Diagnosis for a Child's Autism on Parental Perceptions.

Genetic testing is recommended as part of an autism assessment, and most parents support genetic testing for their minor children. However, the impact on parents of receiving a monogenetic/ copy number variant diagnosis for autism in their child is not well understood. To explore this, we surveyed and interviewed parents of children in the SPARK study, a study of autism that includes genetic testing.

Impact of Receiving Genetic Diagnoses on Parents' Perceptions of Their Children with Autism and Intellectual Disability.

To assess whether genetic test results identifying the cause of a child's autism, when accompanied by other neurodevelopmental disorders (NDD), including intellectual disability, alter how parents perceive and treat their child. 28 parents of 22 individuals with autism (mean age: 15 years), usually with other NDDs, were interviewed after receiving genetic diagnoses indicating a de novo mutation through the Simons Foundation Powering Autism Research for Knowledge study. Diagnosis of a de novo genetic variant can alter parental perceptions of offspring with autism and other NDDs.

Parents' views of benefits and limitations of receiving genetic diagnoses for their offspring.

Background: Individuals with autism with intellectual disabilities (ID) are increasingly undergoing genetic testing, posing questions of how parents view/respond to such results.

Methods: Twenty-eight parents whose offspring had received genetic diagnoses of de novo pathogenic variants associated with autism were interviewed.

Results: Genetic diagnoses parents receive concerning their offspring's autism/intellectual disabilities can be 'double-edged' in several ways, having advantages, but also certain disadvantages and limitations.

Receiving de novo genetic diagnoses for autism with intellectual disability: parents' views of impacts on families' reproductive decisions.

Parents of children with autism who receive genetic diagnoses of de novo variants face challenges in understanding the implications for reproductive decision-making. We interviewed 28 parents who received de novo genetic diagnoses for their child's autism and intellectual disability (ID). These genetic variants proved to have reproductive implications for not only the child's parents, but the child and his/her neurotypical siblings, aunts, uncles, and cousins.