Adults Experiencing Life with Rett Syndrome

May 19, 2022

For adults living with Rett syndrome, challenges will be faced throughout their lifetime and may be overwhelming for some families to cope with. A good place to start is understanding the causes and symptoms of Rett syndrome, and what to expect as it develops into adulthood.

What is Rett Syndrome?

Rett syndrome is a rare genetic neurological disorder that mainly affects females and is caused by a genetic mutation on the X chromosome. Indications begin early, usually within the first eighteen months of life. Rett syndrome eventually leads to severe impairments in speech, mobility, breathing, and more. It can also be present in association with a range of other disabilities. Continuous and repetitive hand movements are one of the primary symptoms, and the severity of the syndrome depends on where the mutation occurs within the body. Individuals with Rett syndrome can also experience seizures, uneven sleep, weakened muscle tone, and slower growth rate of the feet, hands, and head.

Stages of Rett Syndrome

Practitioners use four stages to describe the development of the syndrome. During stage one, there may be few or no apparent indicators. Developmental changes, such as reduced eye contact and delays in gross motor skills, can be quite subtle during this early onset stage.

Stage two can last up to several months and indicates a gradual or rapid onset of symptoms. Wringing, tapping, and other hand movements often begin during stage two. Breathing irregularities may also occur, as well as diminished communication and social interactions.

During stage three, additional motor difficulties and seizures may become prominent, however improved moods and an increase in alertness and attention spans are also possible. This stage lasts for up to many years.

Stage four is the final stage. Scoliosis, reduced mobility, and other physical challenges are evident. However, cognition and communication skills do not decrease.

Adulthood and Rett Syndrome

Sadly there is no cure for Rett syndrome; however, professionals such as occupational and physical therapists can assist individuals with managing their symptoms and learning coping mechanisms.

For women with Rett syndrome, additional care with a professional team is recommended to help navigate the disorder’s complex symptoms, including coping with menstruation. Regular annual tests of bone density, heart health, and general blood work will help keep on top of any changes or issues.

Currently, not much research is available on long-term prognosis for adults living with the syndrome. However, the more comprehensive the supports put in place, the better quality of life the individual will experience. Support from family is required throughout the early years.

Once an individual reaches adulthood, having additional support from a multidisciplinary team can become crucial to manage the vast array of complex symptoms that can occur. Organizations, such as the Independent Living Association in New York, can provide a broad range of care to individuals with Rett syndrome and other developmental disabilities, offering increased peace of mind to loved ones and families.

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