Functional Outcomes in Rett Syndrome
| Autor: | Sakku Bai Naidu, Jocelyn Scheller, Wendy S. Shore, Jennifer Swain, Genila Bibat, Cynthia F. Salorio, Frank S. Pidcock |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2015 |
| Předmět: |
0301 basic medicine
congenital hereditary and neonatal diseases and abnormalities Pediatrics medicine.medical_specialty Activities of daily living Adolescent Cross-sectional study Methyl-CpG-Binding Protein 2 DNA Mutational Analysis Rett syndrome 030105 genetics & heredity Motor Activity Severity of Illness Index Article Cohort Studies Upper Extremity 03 medical and health sciences 0302 clinical medicine Physical medicine and rehabilitation Developmental Neuroscience Severity of illness Activities of Daily Living medicine Rett Syndrome Mutation type Humans In patient Motor activity Child Age Factors Infant General Medicine medicine.disease Cross-Sectional Studies Phenotype Child Preschool Pediatrics Perinatology and Child Health Mutation Female Neurology (clinical) Psychology 030217 neurology & neurosurgery Cohort study |
| Popis: | To relate functional outcomes to mutation type and age at evaluation in patients with Rett syndrome (RTT).We identified 96 RTT patients with mutations in the MECP2 (methyl-CpG-binding protein 2) gene. Chart analysis, clinical evaluation, and functional measures were completed.Among 11 mutation groups, a statistically significant group effect of mutation type was observed for self-care, upper extremity function, and mobility, on standardized measures administered by occupational and physical therapists. Patients with R133C and uncommon mutations tended to perform best on upper extremity and self-care items, whereas patients with R133C, R306C and R294X had the highest scores on the mobility items. The worst performers on upper extremity and self-care items were patients with large deletions, R255X, R168X, and T158M mutations. The lowest scores for mobility were found in patients with T158M, R255X, R168X, and R270X mutations. On categorical variables as reported by parents at the time of initial evaluation, patients with R133C and R294X were most likely to have hand use, those with R133C, R294X, R306C and small deletions were most likely to be ambulatory, and those with R133C were most likely to be verbal.Functional performance in RTT patients may relate to the type of mutation. Knowledge of these relationships is useful for developing appropriate rehabilitation strategies and prognosis. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|