Professionals lack knowledge about fragile X syndrome and autism

By Brenda Finucane, MS, LGC
Autism & Developmental Medicine Institute, Geisinger Health System

Genetic factors play
a prominent role of in the causation of autism spectrum disorder (ASD). Therefore, knowing a child's genetic diagnosis has important practical implications for families, teachers, and behavioral health providers. We hypothesized that autism professionals lacked knowledge about genetic causes of autism. We were also interested in assessing their attitudes about the value of knowing the underlying cause of a child's autism.

What did you do in your research?
We surveyed 439 autism professionals to assess their knowledge and perceptions about fragile X syndrome (FXS) and related issues.

What did you find out?
Almost half of the survey respondents had worked with at least one child diagnosed with FXS, yet most lacked basic knowledge about the condition, underestimated its significance in the cause of autism spectrum disorder, and rarely accessed fragile X-specific resources.  Our survey results reveal that professionals in the autism field lack specific knowledge about FXS and rarely access widely available fragile X resources that could have practical relevance for their work. Respondents grossly underestimated the significance of FXS in the etiology of ASD, and most had received no formal training about genetic syndromes. We chose to study FXS because it is among the most common and well-researched causes of ASD. A majority of respondents perceived etiology (cause) to be an important variable in therapeutic response, while three quarters felt that professionals in the field of autism should play an active role in referring children for etiological evaluation. Despite these opinions, most respondents either rarely or never inquired about etiology when working with a new client.

What are the take-home messages?
The survey results emphasize the need for training and education in genetics so that autism professionals can become effective partners in diagnostic genetic referral and in research and implementation of syndrome-specific interventions.

To learn more about these findings contact Brenda Finucane or visit Project website.

Full Journal Article
Finucane, B., Haas-Givler, B., & Simon, E.W. (2013). Knowledge and perceptions about Fragile X Syndrome: Implications for diagnosis, intervention, and research. Intellectual and Developmental Disabilities, 51(4), 226-236.

Autism & Developmental Medicine Institute, Geisinger Health System provides consultations and trainings for behavioral and educational professionals about the practical implications of genetic diagnoses

National Fragile X Foundation