Rett Syndrome

Fundamental Information

1. Classic Rett syndrome is a rare, X-linked neurodevelopmental disorder seen in females.
2. ▪Atypical Rett syndrome is much less commonly seen and is described as a neonatal encephalopathy with. intellectual disability, seen in males
3. Rett syndrome has no cure and can be particularly upsetting because babies are healthy and meeting. developmental milestones for the first 6 to 9 months before rapidly losing milestones; these specific milestones are coordination, speech, and use of hands, after which symptoms can either continue to worsen or can be followed by a period of stabilization. Girls with classic Rett syndrome never regain the skills they have lost.

Clinical Presentation

1. Clinical features of the classic form of Rett syndrome include loss of milestones after a period of normalcy, culminating in acquired microcephaly, stereotypical hand-washing or hand-wringing behaviors, paucity of speech, and onset of seizures by 3 years of age in 90% of patients
2. Dysfunctional hand movements typically present at age 2 to 3 years
3. Autistic-like features typically are seen between 2 and 3 years also, with loss of language, speech, and social interaction
4. There often can be a plateau at age 5 to 7 years, followed by progressive deterioration of autonomic function leading to scoliosis, growth delay, and cold extremities (hands and feet), which are often smaller than expected for age

Diagnosis and Evaluation

Five criteria are necessary to make a clinical diagnosis of Rett syndrome:

A pattern of development, regression, then recovery or stabilization.

Partial or complete loss of purposeful hand skills such as grasping with fingers, reaching for things, or touching things on purpose

Partial or complete loss of spoken language

Repetitive hand movements, such as hand-wringing, washing, squeezing, clapping, or rubbing

Gait abnormalities, including walking on toes or with an unsteady, wide-based, stiff-legged gait.

In addition, there is a genetic test that can be done, which identifies mutations in 80% of classic females.

Treatment

1. There is no cure for Rett syndrome
2. Treatment is geared toward management of symptoms and preservation of as much normal development as possible, and is performed by a multidisciplinary team
3. As with other disorders of development, the earlier the intervention, the better the outcome
4. Physical therapy: aids in balance, mobility, and weight-bearing training
5. Occupational therapy: reduces stereotypic hand movements, improves or maintains use of hands
6. Speech-language therapy: teaching of nonverbal communication, improvement of social interaction
7. Nutrition therapy: maintains adequate weight and nutritional status via proper supplementation of calcium and essential minerals; also monitors for aspiration risk and recommends tube feeds, if necessary
8. Splints and braces as needed for scoliosis/hand movements
9. Medication as needed to treat respiratory difficulties, seizures, and/or long QT syndrome