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This retrospective study assessed the symptoms and developmental outcome of a large international cohort of patients with AADCD via physician and\/or caregiver responses to a detailed, standardized questionnaire. Sixty\u2010three patients (60% female; ages 6 months\u201036\u2009years, median 7\u2009years; 58 living) from 23 individual countries participated. Common symptoms at onset (median age 3 months, range 0\u201012\u2009months) were hypotonia, developmental delay, and\/or oculogyric crises. Oculogyric crises were present in 97% of patients aged 2 to 12\u2009years, occurred in the majority of patients in all age groups, and tended to be most severe during early childhood. Prominent non\u2010motor symptoms were sleep disturbance, irritable mood, and feeding difficulties. The majority of subjects (70%) had profound motor impairment characterized by absent head control and minimal voluntary movement, while 17% had mild motor impairment and were able to walk independently. Dopamine agonists were the medications most likely to produce some symptomatic benefit, but were associated with dose\u2010limiting side effects (dyskinesia, insomnia, irritability, vomiting) that led to discontinuation 25% of the time. The age distribution of our cohort (70% of subjects under age 13\u2009years) and the observation of a greater proportion of patients with a more severe disease phenotype in the younger compared to the older patients, both suggest a significant mortality risk during childhood for patients with severe disease.<\/jats:p>","DOI":"10.1002\/jimd.12247","type":"journal-article","created":{"date-parts":[[2020,5,5]],"date-time":"2020-05-05T13:56:54Z","timestamp":1588687014000},"page":"1121-1130","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":92,"title":["<scp>AADC<\/scp> deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients"],"prefix":"10.1002","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3679-7707","authenticated-orcid":false,"given":"Toni S.","family":"Pearson","sequence":"first","affiliation":[{"name":"Department of Neurology Washington University School of Medicine  St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Gilbert","sequence":"additional","affiliation":[{"name":"Department of Neurology Washington University School of Medicine  St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Opladen","sequence":"additional","affiliation":[{"name":"Division of Child Neurology &amp; Metabolic Medicine University Children's Hospital  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angeles","family":"Garcia\u2010Cazorla","sequence":"additional","affiliation":[{"name":"Inborn Errors of Metabolism Unit Institut de Recerca Sant Joan de D\u00e9u and CIBERER\u2010ISCIII  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mario","family":"Mastrangelo","sequence":"additional","affiliation":[{"name":"Unit of Child Neurology and Psychiatry, Department of Human Neuroscience Sapienza University of Rome  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Leuzzi","sequence":"additional","affiliation":[{"name":"Unit of Child Neurology and Psychiatry, Department of Human Neuroscience Sapienza University of Rome  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stacy K. H.","family":"Tay","sequence":"additional","affiliation":[{"name":"KTP\u2010National University Children's Medical Institute National University Health System  Singapore Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jolanta","family":"Sykut\u2010Cegielska","sequence":"additional","affiliation":[{"name":"Department of Inborn Errors of Metabolism and Pediatrics Institute of Mother and Child  Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roser","family":"Pons","sequence":"additional","affiliation":[{"name":"First Department of Pediatrics, Aghia Sofia Hospital University of Athens  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saadet","family":"Mercimek\u2010Andrews","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, Department of Pediatrics University of Toronto, The Hospital for Sick Children  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitsuhiro","family":"Kato","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Showa University School of Medicine  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"L\u00fccke","sequence":"additional","affiliation":[{"name":"University Children's Hospital, St. Josef\u2010Hospital, Ruhr\u2010University Bochum  Bochum Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mari","family":"Oppeb\u00f8en","sequence":"additional","affiliation":[{"name":"Division of Child Neurology Oslo University Hospital  Oslo Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manju A.","family":"Kurian","sequence":"additional","affiliation":[{"name":"Developmental Neurosciences, UCL Great Ormond Street\u2010Institute of Child Health and Department of Neurology Great Ormond Street Hospital  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dora","family":"Steel","sequence":"additional","affiliation":[{"name":"Developmental Neurosciences, UCL Great Ormond Street\u2010Institute of Child Health and Department of Neurology Great Ormond Street Hospital  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filippo","family":"Manti","sequence":"additional","affiliation":[{"name":"Unit of Child Neurology and Psychiatry, Department of Human Neuroscience Sapienza University of Rome  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathleen D.","family":"Meeks","sequence":"additional","affiliation":[{"name":"Department of Neurology Washington University School of Medicine  St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathrin","family":"Jeltsch","sequence":"additional","affiliation":[{"name":"Division of Child Neurology &amp; 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