Developmental aspects of FXAND in a man with the FMR1 premutation
Copyright policy )Developmental aspects of FXAND in a man with the FMR1 premutation
AbstractBackgroundFragile 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 CaseA 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.ResultsThe 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.ConclusionThis 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.
- MIND Institute United States
- California Digital Library United States
- University of California, Davis United States
- UNIVERSITY OF CALIFORNIA AT DAVIS
- University of California United States
Magnetic Resonance Imaging (mesh), Male, Autism, 150, Fragile X Syndrome (mesh), QH426-470, 3105 Genetics (for-2020), FXAND, 0304 Medicinal and Biomolecular Chemistry (for), Fragile X Mental Retardation Protein, Clinical Research (rcdc), Cognition, 0604 Genetics (for), Brain Disorders (rcdc), Fragile X Syndrome (rcdc), Autism (rcdc), 1103 Clinical Sciences (for), Intellectual and Developmental Disabilities (IDD) (rcdc), Male (mesh), FMR1, Neurosciences (rcdc), Pediatric, Humans (mesh), 3 Good Health and Well Being (sdg), Brain, Biological Sciences, Mental Illness, Magnetic Resonance Imaging, Phenotype (mesh), Mental Health, Phenotype, 4.2 Evaluation of markers and technologies (hrcs-rac), 3404 Medicinal and biomolecular chemistry (for-2020), Neurological, Premutation, Psychiatric Status Rating Scales (mesh), Behavioral and Social Science (rcdc), 4.2 Evaluation of markers and technologies, Mental Health (rcdc), Adult, Mental Illness (rcdc), Cognition (mesh), Intellectual and Developmental Disabilities (IDD), Clinical Sciences, Fragile X Mental Retardation Protein (mesh), 34 Chemical Sciences (for-2020), ASD, Clinical Reports, Rare Diseases (rcdc), Medicinal and Biomolecular Chemistry, Brain (mesh), Rare Diseases, Clinical Research, Behavioral and Social Science, 616, Genetics, Humans, Pediatric (rcdc), Psychiatric Status Rating Scales, 31 Biological Sciences (for-2020), Fragile X Messenger Ribonucleoprotein 1, 3404 Medicinal and Biomolecular Chemistry (for-2020), Neurological (hrcs-hc), Neurosciences, Brain Disorders, Mental health (hrcs-hc), Good Health and Well Being, Fragile X Syndrome, Chemical Sciences, Fragile X, Adult (mesh)
Magnetic Resonance Imaging (mesh), Male, Autism, 150, Fragile X Syndrome (mesh), QH426-470, 3105 Genetics (for-2020), FXAND, 0304 Medicinal and Biomolecular Chemistry (for), Fragile X Mental Retardation Protein, Clinical Research (rcdc), Cognition, 0604 Genetics (for), Brain Disorders (rcdc), Fragile X Syndrome (rcdc), Autism (rcdc), 1103 Clinical Sciences (for), Intellectual and Developmental Disabilities (IDD) (rcdc), Male (mesh), FMR1, Neurosciences (rcdc), Pediatric, Humans (mesh), 3 Good Health and Well Being (sdg), Brain, Biological Sciences, Mental Illness, Magnetic Resonance Imaging, Phenotype (mesh), Mental Health, Phenotype, 4.2 Evaluation of markers and technologies (hrcs-rac), 3404 Medicinal and biomolecular chemistry (for-2020), Neurological, Premutation, Psychiatric Status Rating Scales (mesh), Behavioral and Social Science (rcdc), 4.2 Evaluation of markers and technologies, Mental Health (rcdc), Adult, Mental Illness (rcdc), Cognition (mesh), Intellectual and Developmental Disabilities (IDD), Clinical Sciences, Fragile X Mental Retardation Protein (mesh), 34 Chemical Sciences (for-2020), ASD, Clinical Reports, Rare Diseases (rcdc), Medicinal and Biomolecular Chemistry, Brain (mesh), Rare Diseases, Clinical Research, Behavioral and Social Science, 616, Genetics, Humans, Pediatric (rcdc), Psychiatric Status Rating Scales, 31 Biological Sciences (for-2020), Fragile X Messenger Ribonucleoprotein 1, 3404 Medicinal and Biomolecular Chemistry (for-2020), Neurological (hrcs-hc), Neurosciences, Brain Disorders, Mental health (hrcs-hc), Good Health and Well Being, Fragile X Syndrome, Chemical Sciences, Fragile X, Adult (mesh)
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