Symptoms of Rett Syndrome

Overview

Symptoms associated with Rett generally start to become evident early in life. Normal development in infants or toddlers with Rett starts to slow, stagnate or regress, often between ages 6 and 18 months. Between ages 1 and 4, children usually show a decline in verbal language abilities, often speaking less, and also start demonstrating fewer purposeful hand or fine motor skills. The disease typically reaches a steady state between ages 2 and 10. This phase is marked by frequent seizures. Irritability and autistic-like symptoms such as loss of communication may ease.

GERD

Gastro-esophageal reflux disease (GERD) is a disease that affects the gastrointestinal tract. Some Rett syndrome patients may have GERD, particularly those with restricted mobility and scoliosis. Pain, anxiety, and excitement can exacerbate GERD and increase discomfort.

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Heart Problems

People with Rett syndrome have a normal heart size and structure in most cases. However, echocardiogram studies may show abnormalities in heart rhythms. Constant monitoring of heart function is essential in patients because heart problems worsen with time.

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Scoliosis

Scoliosis is the most common orthopedic complication seen in Rett syndrome. It is an abnormal curvature of the spine that develops because of a side-to-side deviation in the alignment of the spinal bones (vertebrae). Sometimes, scoliosis may be associated with the twisting of the spine or chest wall deformity.

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