期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 185, 期 12, 页码 3683-3693出版社
WILEY
DOI: 10.1002/ajmg.a.62429
关键词
adult; aging; longitudinal study; motor skills; Rett syndrome
The study showed a significant decline in gross motor skills among adults with Rett syndrome, especially in those with comorbidities such as epilepsy and severe scoliosis. The presence of epilepsy and conservatively managed severe scoliosis were found to be associated with the decline in motor skills, emphasizing their impact on the management of Rett syndrome in adulthood.
Longevity of individuals with neurodevelopmental diseases as Rett syndrome (RTT) has increased and many reach adulthood and old age. There is therefore a need to increase knowledge about the course of RTT in adults in order to improve medical care management and quality of life. We did a longitudinal study to address if a possible decline in motor skills in adults with RTT can be explained by the presence of common medical conditions as epilepsy, breathing disturbance, and scoliosis. Data from the Danish RTT database, medical files, and videos from visits at the national Center for Rett syndrome were reviewed. The study included 24 individuals aged 30-66 years at last visit after a follow-up period of 6-12 years. Results showed a clinically observable and significant decline in gross motor skills using the Rett syndrome Gross Motor Scale (RSGMS) with a tendency of less decline in the individuals with the best motor abilities. The frequencies of comorbidities were high. Decline in RSGMS score was associated with the presence of epilepsy and severe scoliosis that had been conservatively managed. The results emphasize that epilepsy plays a significant role in the adult RTT life and management of severe scoliosis in the younger years has impact on the motor abilities in adulthood.
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