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Cognitive, adaptive, and behavioral features in Joubert syndrome.
- Source :
-
American journal of medical genetics. Part A [Am J Med Genet A] 2016 Dec; Vol. 170 (12), pp. 3115-3124. Date of Electronic Publication: 2016 Aug 17. - Publication Year :
- 2016
-
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.<br /> (© 2016 Wiley Periodicals, Inc.)
- Subjects :
- Abnormalities, Multiple diagnostic imaging
Abnormalities, Multiple psychology
Adolescent
Adult
Brain abnormalities
Brain diagnostic imaging
Cerebellum diagnostic imaging
Cerebellum physiopathology
Child
Child, Preschool
Cognition physiology
Emotions physiology
Eye Abnormalities diagnostic imaging
Eye Abnormalities psychology
Female
Humans
Infant
Intellectual Disability diagnostic imaging
Intellectual Disability psychology
Kidney Diseases, Cystic diagnostic imaging
Kidney Diseases, Cystic psychology
Magnetic Resonance Imaging
Male
Neuropsychological Tests
Phenotype
Retina diagnostic imaging
Retina physiopathology
Abnormalities, Multiple diagnosis
Abnormalities, Multiple physiopathology
Cerebellum abnormalities
Eye Abnormalities diagnosis
Eye Abnormalities physiopathology
Intellectual Disability diagnosis
Intellectual Disability physiopathology
Kidney Diseases, Cystic diagnosis
Kidney Diseases, Cystic physiopathology
Retina abnormalities
Subjects
Details
- Language :
- English
- ISSN :
- 1552-4833
- Volume :
- 170
- Issue :
- 12
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part A
- Publication Type :
- Academic Journal
- Accession number :
- 27530364
- Full Text :
- https://doi.org/10.1002/ajmg.a.37938