title: Cognitive, adaptive, and behavioral features in Joubert syndrome.
abstract: Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by a distinctive cerebellar and brainstem malformation recognizable on brain imaging, the so-called molar tooth sign. The full spectrum of cognitive and behavioral phenotypes typical of JS is still far from being elucidated. The aim of this multicentric study was to define the clinical phenotype and neurobehavioral features of a large cohort of subjects with a neuroradiologically confirmed diagnosis of JS. Fifty-four patients aged 10 months to 29 years were enrolled. Each patient underwent a neurological evaluation as well as psychiatric and neuropsychological assessments. Global cognitive functioning was remarkably variable with Full IQ/General Quotient ranging from 32 to 129. Communication skills appeared relatively preserved with respect to both Daily Living and Socialization abilities. The motor domain was the area of greatest vulnerability, with a negative impact on personal care, social, and academic skills. Most children did not show maladaptive behaviors consistent with a psychiatric diagnosis but approximately 40% of them presented emotional and behavioral problems. We conclude that intellectual disability remains a hallmark but cannot be considered a mandatory diagnostic criterion of JS. Despite the high variability in the phenotypic spectrum and the extent of multiorgan involvement, nearly one quarter of JS patients had a favorable long-term outcome with borderline cognitive deficit or even normal cognition. Most of JS population also showed relatively preserved communication skills and overall discrete behavioral functioning in everyday life, independently from the presence and/or level of intellectual disability. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Developmental Neurology Division, IRCCS Fondazione Istituto Neurologico C. Besta, Milan, Italy.
authors.forename: Sara
authors.initials: S
authors.lastname: Bulgheroni
authors.affiliation: Developmental Neurology Division, IRCCS Fondazione Istituto Neurologico C. Besta, Milan, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: D'Arrigo
authors.affiliation: Unit of Child Neurology and Psychiatry, IRCCS Fondazione Istituto Neurologico Nazionale C. Mondino, Pavia, Italy.
authors.forename: Sabrina
authors.initials: S
authors.lastname: Signorini
authors.affiliation: Department of Pediatric, Gynecological, Microbiological and Biomedical Sciences, Unit of Infantile Neuropsychiatry, University of Messina, Messina, Italy.
authors.forename: Marilena
authors.initials: M
authors.lastname: Briguglio
authors.affiliation: Department of Pediatrics and Child Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy.
authors.forename: Maria Lucia
authors.initials: ML
authors.lastname: Di Sabato
authors.affiliation: Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy.
authors.forename: Manuela
authors.initials: M
authors.lastname: Casarano
authors.affiliation: Neurogenetics Unit, Mendel Laboratory, IRCCS Casa Sollievo Della Sofferenza, San Giovanni Rotondo, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Mancini
authors.affiliation: Neurogenetics Unit, Mendel Laboratory, IRCCS Casa Sollievo Della Sofferenza, San Giovanni Rotondo, Italy.
authors.forename: Marta
authors.initials: M
authors.lastname: Romani
authors.affiliation: Unit of Child Neuropsichiatry, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Alfieri
authors.affiliation: Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy.
authors.forename: Roberta
authors.initials: R
authors.lastname: Battini
authors.affiliation: Unit of Child Neurology and Psychiatry, IRCCS Fondazione Istituto Neurologico Nazionale C. Mondino, Pavia, Italy.
authors.forename: Marina
authors.initials: M
authors.lastname: Zoppello
authors.affiliation: Department of Pediatric, Gynecological, Microbiological and Biomedical Sciences, Unit of Infantile Neuropsychiatry, University of Messina, Messina, Italy.
authors.forename: Gaetano
authors.initials: G
authors.lastname: Tortorella
authors.affiliation: Laboratory of Molecular Medicine, Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Gesù Pediatric Hospital, Rome, Italy.
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
authors.affiliation: Department of Pediatrics and Child Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy.
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Leuzzi
authors.affiliation: Department of Medicine and Surgery, Section of Neurosciences, University of Salerno, Salerno, Italy.|Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome, Italy.
authors.forename: Enza Maria
authors.initials: EM
authors.lastname: Valente
authors.affiliation: Developmental Neurology Division, IRCCS Fondazione Istituto Neurologico C. Besta, Milan, Italy.
authors.forename: Daria
authors.initials: D
authors.lastname: Riva
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000503:physiopathology* / Q000523:psychology; D000293:Adolescent; D000328:Adult; D001921:Brain / Q000002:abnormalities / Q000000981:diagnostic imaging; D002531:Cerebellum / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D003071:Cognition / Q000502:physiology; D004644:Emotions / Q000502:physiology; D005124:Eye Abnormalities / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000503:physiopathology* / Q000523:psychology; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000503:physiopathology* / Q000523:psychology; D052177:Kidney Diseases, Cystic / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000503:physiopathology* / Q000523:psychology; D008279:Magnetic Resonance Imaging; D008297:Male; D009483:Neuropsychological Tests; D010641:Phenotype; D012160:Retina / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000503:physiopathology
keywords: Joubert syndrome; adaptive behavior; behavioral disorder; intelligence