Fragile X Syndrome & Autism

Families and some providers are often confused by the relationship between Fragile X syndrome and autism. It is important to note that it is more common for a child to be diagnosed with autism first and receive an additional diagnosis of FXS. There are overlaps and gaps between the two conditions, and understanding these distinctions can be particularly helpful when deciding on the most appropriate medical, therapeutic, and education interventions, and will increase the potential for both short- and long-term benefits.

Treatment Recommendations

The NFXF’s family-friendly Treatment Recommendations are in-depth documents developed by NFXF staff, members of the NFXF’s Fragile X Clinical & Research Consortium (FXCRC), and other Fragile X professionals, and reviewed and edited by the entire FXCRC.

Link to Understanding Autism Spectrum Disorder in Fragile X Syndrome treatment recommendations.

Fragile X Syndrome and autism can be confusing for families. This consensus helps explain how they can overlap and how to get the best treatment for them, plus advice from experts on how to help individuals with Fragile X Syndrome and autism.


From Our Blog

  • Two heads overlapping.

FXS and ASD: Similar But Different

By |Apr 2, 2018|

This discussion provides clinical perspectives on the behavioral differences between FXS and what are thought to be core features of autism. There is still much to be learned about identifying behaviors that suggest the presence or absence of ASD in FXS.

  • A clinician in a white lab coat kneeling on the floor next to a young boy wearing shorts sitting on the floor. She is engaging with the boy.

A Blood Test for Autism? Not So Fast

By |Feb 20, 2018|

Among families and professionals, in schools and therapeutic settings, there is already a great deal of confusion about the relationship between genetic test results and developmental diagnoses. We challenge the the notion that autism itself can be directly diagnosed through a blood test.

Additional Resources

Delineating Repetitive Behavior Profiles Across the Lifespan in Fragile X Syndrome
More research is needed to develop a deeper understanding of the effect IQ, gender, and ASD diagnosis have on the RRB profile of individuals with FXS and inform treatment. Looking at these behaviors over time may help professionals understand changes in RRBs in individuals with FXS over time.

ASD Diagnosis in Fragile X Syndrome
This research suggests there are differences between the diagnosis of FXS and FXS+ASD. More work needs to be done to examine additional modifications, beyond the deletion of non-informative items, that can further improve the diagnostic potential of the SCQ and SRS in FXS.

Behavioral Issues in FXS+ASD
While parents may be well aware of the differences between FXS, ASD, and FXS+ASD, teachers, clinicians, and other professionals, need to understand that FXS+ASD isn’t merely a sum of its parts.

Sensory Overload (Interacting with Autism Project) — Director and Animator: Miguel Jiron (Video)
Some people with autism have difficulty processing intense, multiple sensory experiences at once. This animation gives the viewer a glimpse into sensory overload, and how often our sensory experiences intertwine in everyday life.

Autism—What We Know (and what we don’t know yet) — Simons Foundation geneticist Wendy Chung (Ted Talk video)
Geneticist Wendy Chung shares what we know about autism spectrum disorder, including that autism has multiple causes. Looking beyond the diagnosis, Chung looks at what’s been learned through studies, treatments, and listening.

The World Needs All Kinds of Minds — Temple Grandin (Ted Talk video)
Temple Grandin, diagnosed with autism as a child, talks about how her mind works, including her ability to “think in pictures,” which helps her solve problems that neurotypical brains might miss. She makes the case that the world needs people on the autism spectrum: visual thinkers, pattern thinkers, verbal thinkers, and all kinds of smart geeky kids.

What I’ve Learned from My Autistic Brothers — Faith Jegede (Ted Talk video)
Faith Jegede tells the moving and funny story of growing up with her two autistic and extraordinary brothers, and reminds us to pursue a life beyond what is normal.