{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T05:15:43Z","timestamp":1790399743060,"version":"4.1.0"},"reference-count":64,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2017,5,12]],"date-time":"2017-05-12T00:00:00Z","timestamp":1494547200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000098","name":"NIH Clinical Center","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000098","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,7]]},"abstract":"<jats:sec><jats:label\/><jats:p>Joubert syndrome (JS) is a genetically heterogeneous ciliopathy characterized by hypo\u2010dysplasia of the cerebellar vermis, a distinct hindbrain\/midbrain malformation (molar tooth sign), and intellectual disability. We evaluated the neuropsychological profiles of 76 participants with JS in the context of molecular genetics and clinical covariates. Evaluations included neuropsychological testing, structured parental interviews, DNA sequencing, brain magnetic resonance imaging (MRI), electroencephalography (EEG), ophthalmologic examination, and assessment for renal and hepatic disease. On average, participants manifested Full Scale Intelligence Quotients (FSIQ) in the moderately to profoundly low range (<jats:italic>M<\/jats:italic>\u2009=\u200964.3\u2009\u00b1\u200915.3). Of the Wechsler index scores, verbal comprehension was least affected and processing speed was most affected. Receptive language was rated as better than expressive language on the Vineland Adaptive Behavior Scales\u2010Second Edition. Those with abnormal EEG had a significantly lower FSIQ (<jats:italic>n<\/jats:italic>\u2009=\u200915; <jats:italic>M<\/jats:italic>\u2009=\u200950.7\u2009\u00b1\u200912.9) compared to participants with normal EEG (<jats:italic>n<\/jats:italic>\u2009=\u200939; <jats:italic>M<\/jats:italic>\u2009=\u200964.7\u2009\u00b1\u200916.3; <jats:italic>p<\/jats:italic>\u2009=\u2009.004). Participants taking psychiatric medications manifested a lower FSIQ (<jats:italic>n<\/jats:italic>\u2009=\u200920; <jats:italic>M<\/jats:italic>\u2009=\u200954.8\u2009\u00b1\u200913.2) than those not taking them (<jats:italic>n<\/jats:italic>\u2009=\u200942; <jats:italic>M<\/jats:italic>\u2009=\u200965.0\u2009\u00b1\u200917.2; <jats:italic>p<\/jats:italic>\u2009=\u2009.022). These correlations were also present in the TMEM67\u2010related JS sub\u2010cohort (<jats:italic>n<\/jats:italic>\u2009=\u200914). Based on parental assessment, psychiatric and behavioral problems were significantly more common than in the general population for all measures (<jats:italic>p<\/jats:italic>\u2009&lt;\u2009.004 for all). The majority (65%) of individuals with JS have some degree of intellectual disability. Abnormal EEG is associated with lower neuropsychological function. Processing speed is a weakness, while verbal comprehension and receptive language are relative strengths. These findings may guide parents, teachers, therapists, and doctors to determine appropriate therapies, accommodations, and academic goals for individuals with JS.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38272","type":"journal-article","created":{"date-parts":[[2017,5,12]],"date-time":"2017-05-12T06:01:19Z","timestamp":1494568879000},"page":"1796-1812","source":"Crossref","is-referenced-by-count":40,"title":["Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0123-0794","authenticated-orcid":false,"given":"Angela C.","family":"Summers","sequence":"first","affiliation":[{"name":"Office of the Clinical Director, Intramural Research Program, National Institute of Mental Health National Institutes of Health Bethesda Maryland"},{"name":"Department of Psychology Fordham University Bronx New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"Snow","sequence":"additional","affiliation":[{"name":"Office of the Clinical Director, Intramural Research Program, National Institute of Mental Health National Institutes of Health Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edythe","family":"Wiggs","sequence":"additional","affiliation":[{"name":"Office of the Clinical Director, Intramural Research Program, National Institute of Mental Health National Institutes of Health Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander G.","family":"Liu","sequence":"additional","affiliation":[{"name":"Office of the Clinical Director, Intramural Research Program, National Institute of Mental Health National Institutes of Health Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camilo","family":"Toro","sequence":"additional","affiliation":[{"name":"NIH Undiagnosed Diseases Program, Common Fund, Office of the Director National Institutes of Health Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Poretti","sequence":"additional","affiliation":[{"name":"Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science Johns Hopkins University Baltimore Maryland"},{"name":"Department of Neurogenetics Kennedy Krieger Institute Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wadih M.","family":"Zein","sequence":"additional","affiliation":[{"name":"Ophthalmic Genetics and Visual Function Branch, National Eye Institute National Institutes of Health Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian P.","family":"Brooks","sequence":"additional","affiliation":[{"name":"Ophthalmic Genetics and Visual Function Branch, National Eye Institute National Institutes of Health Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa A.","family":"Parisi","sequence":"additional","affiliation":[{"name":"Intellectual and Developmental Disabilities Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development National Institutes of Health Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Inati","sequence":"additional","affiliation":[{"name":"Electroencephalography Section National Institute of Neurological Disorders and Stroke Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan","family":"Doherty","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Washington Seattle Washington"},{"name":"Center for Integrative Brain Research Seattle Children's Research Institute Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meghana","family":"Vemulapalli","sequence":"additional","affiliation":[{"name":"NIH Intramural Sequencing Center (NISC), National Human Genome Research Institute National Institutes of Health Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jim C.","family":"Mullikin","sequence":"additional","affiliation":[{"name":"NIH Intramural Sequencing Center (NISC), National Human Genome Research Institute National Institutes of Health Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"NISC Comparative Sequencing Program","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Vilboux","sequence":"additional","affiliation":[{"name":"Medical Genetics Branch, National Human Genome Research Institute National Institutes of Health Bethesda Maryland"},{"name":"Inova Translational Medicine Institute Falls Church Virginia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William A.","family":"Gahl","sequence":"additional","affiliation":[{"name":"NIH Undiagnosed Diseases Program, Common Fund, Office of the Director National Institutes of Health Bethesda Maryland"},{"name":"Medical Genetics Branch, National Human Genome Research Institute National Institutes of Health Bethesda Maryland"},{"name":"Office of the Clinical Director, National Human Genome Research Institute National Institutes of Health Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meral","family":"Gunay\u2010Aygun","sequence":"additional","affiliation":[{"name":"Medical Genetics Branch, National Human Genome Research Institute National Institutes of Health Bethesda Maryland"},{"name":"Office of the Clinical Director, National Human Genome Research Institute National Institutes of Health Bethesda Maryland"},{"name":"Department of Pediatrics and McKusick\u2013Nathans Institute of Genetic Medicine Johns Hopkins University School of Medicine Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,5,12]]},"reference":[{"key":"e_1_2_12_2_1","unstructured":"National Research Council (US) Committee on Disability Determination for Mental Retardation.2002. 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