Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center

American Journal of Medical Genetics. Part a
Angela C SummersMeral Gunay-Aygun

Abstract

Joubert syndrome (JS) is a genetically heterogeneous ciliopathy characterized by hypo-dysplasia 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 (M = 64.3 ± 15.3). 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-Second Edition. Those with abnormal EEG had a significantly lower FSIQ (n = 15; M = 50.7 ± 12.9) compared to participants with normal EEG (n = 39; M = 64.7 ± 16.3; p = .004). Participants taking psychiatric medications manifested a lower FSIQ (n = 20; M = 54.8 ± 13.2) than those not taking them (n = 42; ...Continue Reading

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Citations

Nov 12, 2019·American Journal of Medical Genetics. Part a·Ruxandra Bachmann-GagescuDan Doherty
Nov 26, 2019·Translational Science of Rare Diseases·Angela Grochowsky, Meral Gunay-Aygun
May 14, 2020·Molecular Neuropsychiatry·Emma RebleCathy L Barr

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