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The Neuropsychological profile of patients with 3-Methylglutaconic aciduria type III, Costeff syndrome
- Source :
- American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 168:197-203
- Publication Year :
- 2015
- Publisher :
- Wiley, 2015.
-
Abstract
- Costeff syndrome is a rare genetic neuro-ophthalmological syndrome consisting of early-onset bilateral optic atrophy along with a progressive complex motor disorder with elevated levels of urinary 3-methylglutaconic acid and 3-methylglutaric acid. While borderline to mild cognitive deficits have been considered to be common in patients with this syndrome, a comprehensive cognitive assessment has never been performed. The aim of the current study was to explore the cognitive profile associated with Costeff syndrome. Sixteen adult patients diagnosed with Costeff syndrome were administered a neuropsychological test battery that was composed of standardized verbal tests adapted for the blind. General intelligence ranged from average to borderline, with a group mean consistent with intact general cognitive functioning (VIQmean = 85, z = -1) in the low-average range of the general population. The auditory immediate and delayed memory indexes were in the average range and were significantly higher than the general cognitive functioning, whereas the working memory index was significantly lower than the general cognitive functioning. Adult patients with Costeff syndrome have intact global cognition and learning abilities and strong auditory memory performance. © 2015 Wiley Periodicals, Inc.
- Subjects :
- Motor disorder
medicine.medical_specialty
education.field_of_study
medicine.diagnostic_test
business.industry
Working memory
Population
Neuropsychology
Cognition
Neuropsychological test
Audiology
medicine.disease
Costeff syndrome
Cellular and Molecular Neuroscience
Psychiatry and Mental health
Medicine
Neuropsychological assessment
business
education
Genetics (clinical)
Subjects
Details
- ISSN :
- 15524841
- Volume :
- 168
- Database :
- OpenAIRE
- Journal :
- American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
- Accession number :
- edsair.doi...........16daee4c79bd7a7c9297c621b5a313ad