Developmental aspects of FXAND in a man with the FMR1 premutation
| Autor: | Jun Yi Wang, Andrea Schneider, Ellery Santos, Chinelo Emeka-Nwonovo, Randi J Hagerman, Paul J. Hagerman, Flora Tassone |
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| Rok vydání: | 2020 |
| Předmět: |
Male
0301 basic medicine 6.6 Psychological and behavioural Autism Selective mutism 030105 genetics & heredity FXAND Fragile X Mental Retardation Protein Cognition 2.1 Biological and endogenous factors Aetiology 10. No inequality FMR1 Genetics (clinical) Pediatric Clinical Report Depression Brain Serious Mental Illness Magnetic Resonance Imaging 3. Good health Phenotype Mental Health Autism spectrum disorder Anxiety Premutation social and economic factors medicine.symptom Adult medicine.medical_specialty lcsh:QH426-470 Intellectual and Developmental Disabilities (IDD) Clinical Sciences ASD Clinical Reports 03 medical and health sciences Medicinal and Biomolecular Chemistry Rare Diseases Clinical Research 2.3 Psychological Behavioral and Social Science mental disorders medicine Genetics Humans Attention deficit hyperactivity disorder Psychiatry Molecular Biology Psychiatric Status Rating Scales business.industry Neurosciences Evaluation of treatments and therapeutic interventions Schedule for Affective Disorders and Schizophrenia medicine.disease Brain Disorders lcsh:Genetics Good Health and Well Being 030104 developmental biology Fragile X Syndrome Fragile X business Agoraphobia |
| Zdroj: | Molecular genetics & genomic medicine, vol 8, iss 2 Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020) Molecular Genetics & Genomic Medicine |
| Popis: | 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. FMR1 premutation carriers develop neuropsychiatric problems that present in childhood and persists into adulthood. We review and characterize the features of Fragile X‐associated Neuropsychiatric Disorders (FXAND) in an exemplary case. |
| Databáze: | OpenAIRE |
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