FXAND: What Is It and What Might It Mean to You?

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Recently, Dr. Randi Hagerman, medical director and developmental pediatrician at the UC Davis MIND Institute in California, published an article in the scientific journal Frontiers in Psychiatry, titled Fragile X-Associated Neuropsychiatric Disorders (FXAND). Dr. Hagerman 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. The above-referenced article is one of the first attempts by Dr. Hagerman to describe what she and her colleagues believe to be the scientific basis for those problems. The paper also proposes the 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. They suggest that the identified toxic effect of the premutation on the brain may underlie these problems.

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Recently, Dr. Randi Hagerman, medical director and developmental pediatrician at the UC Davis MIND Institute in California, published an article in the scientific journal Frontiers in Psychiatry, titled Fragile X-Associated Neuropsychiatric Disorders (FXAND). Dr. Hagerman 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. The above-referenced article is one of the first attempts by Dr. Hagerman to describe what she and her colleagues believe to be the scientific basis for those problems. The paper also proposes the 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. They suggest that the identified toxic effect of the premutation on the brain may underlie these problems.

Randi Hagerman presents at the 16th Fragile X Conference

Dr. Randi Hagerman presented on this topic at the 16th NFXF International Fragile X Conference.

In this session, Dr. Hagerman discusses new research in premutation research including:

  • MRI changes through the lifespan.
  • Occasional occurrences of white matter disease prior to clinical symptoms of FXTAS.
  • Clinical correlations of the CGG repeat number and vulnerability of premutation neurons.
  • Thoughts about how to stay healthy with the premutation.
  • New treatments for FXTAS.

A Q&A with the audience follows the presentation.

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New Developments in Premutation Research