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Aging in persons with Rett syndrome: an updated review.

Meir Lotan¹, Joav Merrick, Isack Kandel

¹Department of Physical Therapy, Ariel University Center of Samaria, Ariel, Israel.

Thescientificworldjournal

|May 11, 2010

Summary

Rett syndrome (RS), a neurological disorder caused by MECP2 gene mutations, affects brain development in females. Despite challenges, individuals with RS can live longer, necessitating tailored long-term care to manage age-related decline.

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Area of Science:

Neurology
Genetics
Developmental Biology

Background:

Rett syndrome (RS) is a significant neurological disorder primarily affecting females, stemming from X-linked mutations.
It is characterized by developmental arrest in the brain, linked to defects in the MECP2 gene, which regulates gene expression via methylated DNA.
This condition represents the first identified human disease associated with such a specific molecular mechanism.

Purpose of the Study:

To highlight the longevity observed in females with Rett syndrome.
To underscore the unique clinical challenges presented by individuals with RS to healthcare professionals.
To advocate for comprehensive, long-term, and individualized care strategies for RS patients throughout their lives.

Main Methods:

Analysis of case stories and recent research findings on Rett syndrome.
Observation of longevity trends in the RS population.
Identification of specific clinical challenges faced by therapists and physicians treating RS.

Main Results:

Females with Rett syndrome demonstrate the capacity to live into old age.
Individuals with RS present distinct clinical management challenges.
Age-related deterioration is a recognized issue in the RS population.

Conclusions:

Long-term, intensive, and individualized care is crucial for managing Rett syndrome.
Proactive care strategies may help prevent or mitigate age-related deterioration in individuals with RS.
Understanding the longevity and specific needs of the RS population informs better clinical practice and patient outcomes.