Variation in cognitive function over time in Gaucher disease type 3
| Autor: | Emory Ryan, Tamanna Roshan Lal, Ellen Sidransky, Taylor Lindstrom, Alta M. Steward, Grisel Lopez, Somto Ukwuani, Raphael Schiffmann, Edythe Wiggs, Nahid Tayebi |
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| Rok vydání: | 2019 |
| Předmět: |
Adult
Male 0301 basic medicine medicine.medical_specialty Adolescent Intelligence Audiology Article Lateralization of brain function Young Adult 03 medical and health sciences Cognition 0302 clinical medicine Reference Values medicine Humans Clinical significance Young adult Child Retrospective Studies Gaucher Disease business.industry Wechsler Scales Wechsler Adult Intelligence Scale Retrospective cohort study Clinical trial 030104 developmental biology Child Preschool Cohort Female Neurology (clinical) business 030217 neurology & neurosurgery |
| Zdroj: | Neurology |
| ISSN: | 1526-632X 0028-3878 |
| Popis: | ObjectiveTo identify relevant efficacy parameters essential in designing clinical trials for brain-penetrant therapies for Gaucher disease, we evaluated cognitive function longitudinally in 34 patients with Gaucher disease type 3 seen at the NIH Clinical Center.MethodsIndividuals were tested with age-appropriate Wechsler Intelligence Scales administered between 1 and 18 times over 29 years. Variation in all IQ domains was not linear with time and was best characterized with the coefficient of variation (SD/mean) for each individual. Mixed-effects regressions were used to determine whether IQ was associated with clinical features. Models were controlled for variation in test version, participant identification, and test administrator.ResultsMean verbal, performance, and full-scale IQs were 81.77, 75.98, and 82.02, respectively, with a consistent discrepancy between verbal and performance IQs. Mean (SD) verbal, performance, and full-scale coefficient of variations were 0.07 (0.04), 0.09 (0.05), and 0.06 (0.02), respectively. IQ varied about a mean, with no clear trajectory, indicating no clear patterns of improvement or decline over time. EEG lateralization and behavioral issues were consistently associated with IQ.ConclusionsThe observed variation in IQ in Gaucher disease type 3 across the cohort and within single individuals over time may be characteristic of other neuronopathic diseases. Therefore, to reliably use IQ as an efficacy measure in any clinical trial of neurotherapeutics, a normal variation range must be established to assess the clinical relevance of any IQ change. |
| Databáze: | OpenAIRE |
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