{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:02:08Z","timestamp":1753869728450,"version":"3.41.2"},"reference-count":30,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,1,3]],"date-time":"2020-01-03T00:00:00Z","timestamp":1578009600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000071","name":"National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["HD036071","U54 HD079125"],"award-info":[{"award-number":["HD036071","U54 HD079125"]}],"id":[{"id":"10.13039\/100000071","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Fragile X mental retardation 1 (<jats:italic>FMR1<\/jats:italic>) 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\u2010associated Neuropsychiatric Disorders (FXAND) and is separate from Fragile X\u2010associated Tremor\/Ataxia syndrome (FXTAS), a neurodegenerative disorder.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods\/Clinical Case<\/jats:title><jats:p>A 26\u2010year\u2010old Caucasian male with the Fragile X premutation who presented with multiple behavior and emotional problems including depression and anxiety at 10\u00a0years of age. He was evaluated at 13, 18, and 26\u00a0years old with age\u2010appropriate cognitive assessments, psychiatric evaluations, and an MRI of the brain.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The Autism Diagnostic Observation Scale (ADOS) was done at 13\u00a0years old and showed the patient has autism spectrum disorder (ASD). An evaluation at 18\u00a0years old showed a full\u2010scale IQ of 64. A Kiddie Schedule for Affective Disorders and Schizophrenia (K\u2010SADS) performed at 26\u00a0years old confirmed the previous impression of social anxiety disorder, agoraphobia disorder, and selective mutism. His MRI acquired at 26\u00a0years old showed enlarged ventricles, increased frontal subarachnoid spaces, and hypergyrification.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This is an exemplary case of an <jats:italic>FMR1<\/jats:italic> premutation carrier with significant psychiatric and cognitive issues that demonstrates Fragile X\u2010associated Neuropsychiatric Disorders (FXAND) as separate from the other well\u2010known premutation disorders.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1050","type":"journal-article","created":{"date-parts":[[2020,1,3]],"date-time":"2020-01-03T13:39:40Z","timestamp":1578058780000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Developmental aspects of FXAND in a man with the <i>FMR1<\/i> 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