Research is currently underway looking at various issues that may be seen in people with the premutation.

Here we present a paper by Dr. Randi Hagerman, medical director and developmental pediatrician at the UC Davis MIND Institute in California, is well-known in the worldwide Fragile X community for her pioneering work in Fragile X syndrome (FXS) and Fragile X-associated tremor ataxia syndrome (FXTAS).

For many years, she has believed that carriers of a Fragile X premutation are at risk for a variety of mental health and medical problems due to the premutation itself.

Dr. Hagerman published an article in the scientific journal Frontiers in Psychiatry, titled Fragile X-Associated Neuropsychiatric Disorders (FXAND), one of the first attempts to describe what she and her colleagues believe to be the scientific basis for those problems.

They suggest that the identified toxic effect of the premutation on the brain may underlie these problems. The paper also proposes recognition of the diagnostic term “FXAND” in order to “promote research and the use of fragile X DNA testing to enhance recognition and treatment for these disorders.”

Dr. Hagerman and her team describe anxiety, depression, attention deficit hyperactive disorder (ADHD), chronic pain, fibromyalgia, chronic fatigue, sleep disturbances, and autoimmune problems as potentially related to carrying a Fragile X premutation.