Background: Fragile X mental retardation 1 (FMR1) premutation can cause developmental problems including autism spectrum disorder (ASD), social anxiety, depression, and attention deficit hyperactivity disorder (ADHD). These problems fall under an umbrella term of Fragile X-associated Neuropsychiatric Disorders (FXAND) and is separate from Fragile X-associated Tremor/Ataxia syndrome (FXTAS), a neurodegenerative disorder.
Methods/clinical case: A 26-year-old Caucasian male with the Fragile X premutation who presented with multiple behavior and emotional problems including depression and anxiety at 10 years of age. He was evaluated at 13, 18, and 26 years old with age-appropriate cognitive assessments, psychiatric evaluations, and an MRI of the brain.
Results: The Autism Diagnostic Observation Scale (ADOS) was done at 13 years old and showed the patient has autism spectrum disorder (ASD). An evaluation at 18 years old showed a full-scale IQ of 64. A Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS) performed at 26 years old confirmed the previous impression of social anxiety disorder, agoraphobia disorder, and selective mutism. His MRI acquired at 26 years old showed enlarged ventricles, increased frontal subarachnoid spaces, and hypergyrification.
Conclusion: This is an exemplary case of an FMR1 premutation carrier with significant psychiatric and cognitive issues that demonstrates Fragile X-associated Neuropsychiatric Disorders (FXAND) as separate from the other well-known premutation disorders.
Keywords: FMR1; ASD; FXAND; Fragile X; Premutation.
© 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.