Fragile X Syndrome and Autism

At the new multimillion dollar U.C. Davis M.I.N.D Institute some revolutionary and groundbreaking work is being carried out in the field of autism, and the little known Fragile X Syndrome. As the number of cases of autism increase, the research being done at the Institute is critical in discovering the genetic and neurological pathways of these puzzling disorders.

Many of us have a misconception that autism is one disorder, when in fact it is part of a family of disorders including Aspergers, autism spectrum disorder and Fragile X. Classified originally as a mental illness, gradually, through dedicated research, evolved into an awareness that these were a new class of disorder-neurodevelopmental.

Exciting findings announced by UC Davis in May of 2005, state they have discovered that autistic children have a different immune reaction to a variety of pathogens, than do children who are not autistic.. This adds a biological dimension, possibly autoimmune to the autism spectrum.

The study was supported by grants from the National Institutes of Environmental Health Sciences, the U.S. Environmental Protection Agency, the UC Davis M.I.N.D. Institute, Ted Lindsay Foundation and Visceral. The UC Davis M.I.N.D. (Medical Investigation of Neurodevelopmental Disorders) Institute is a unique collaborative center for research into the causes and treatments of autism, bringing together parents, scientists, clinicians and educators.

Fragile X syndrome is a little known disorder believed to be responsible for mental retardation and is now being implicated in autism. It is recommended that all autistic children be tested for Fragile X, as it is found that between 15% and 33% of autistics possess the Fragile X gene. That is between 1/3 and 2/3 of all children suffering with autism. It is the single most common gene found.

"The typical features of fragile X syndrome (FXS) i.e. hand biting, hand flapping, poor eye contact, shyness, and social anxiety are probably related to the sensory hyperarousal that has been documented by many investigators including Belser and Sudhalter (1995), Miller et al. (1999), and Roberts et al.(2002). These features are often also referred to as autistic-like features because they can be seen in individuals who have autism without fragile X. Most children with fragile X, however, are interested in social interactions and do not meet the diagnostic criteria for autism." Randi Hagerman, MD
Medical Director, UC Davis Medical Center, M.I.N.D. Institute

Fragile X patients can possess the elongated facial features and large ears of the mentally retarded. They also frequently after puberty have enlarged testicles, indicating a possible hormonal component as well.

Connective tissue disorders are part of the Fragile X picture and show themselves in various ways including:

otitis media (ear infections)

mitral valve prolapse

circulatory problems

double jointedness due to the erosion of the connective tissue

furrowed scalp

flat feet

If your child appears to be autistic or has been diagnosed already, please have him/her tested for this syndrome. And I encourage parents and caregivers to connect with the M.I.N.D Institute to participate in their world class programs and groundbreaking work in this field.

With autism on the rise and truly exciting work being done to isolate and identify the causes of these disorders, your participation can help improve the lives of millions of children.