Rett syndrome (RTT) is a disorder of the nervous system. This condition leads to developmental problems in children. It mostly affects language skills and hand use.
RTT; Scoliosis - Rett syndrome; Intellectual disability - Rett syndrome
RTT occurs almost always in girls. It may be diagnosed as autism or cerebral palsy.
Most RTT cases are due to a problem in the gene called MECP2. This gene is on the X chromosome. Females have 2 X chromosomes. Even when one chromosome has this defect, the other X chromosome is normal enough for the child to survive.
An infant with RTT usually has normal development for the first 6 to 18 months. Symptoms range from mild to severe.
Symptoms may include:
NOTE: Problems with breathing patterns may be the most upsetting and difficult symptom for parents to watch. Why they happen and what to do about them is not well understood. Most experts recommend that parents remain calm through an episode of irregular breathing like breath holding. It may help to remind yourself that normal breathing always returns and that your child will become used to the abnormal breathing pattern.
Exams and Tests
Genetic testing may be done to look for the gene defect. But, since the defect is not identified in everyone with the disease, the diagnosis of RTT is based on symptoms.
There are several different types of RTT:
RTT is classified as atypical if:
Treatment may include:
Supplemental feedings can help with slowed growth. A feeding tube may be needed if the child breathes in (aspirates) food. A diet high in calories and fat combined with feeding tubes can help increase weight and height. Weight gain may improve alertness and social interaction.
Medicines may be used to treat seizures. Supplements may be tried for constipation, alertness, or rigid muscles.
Stem cell therapy, alone or in combination with gene therapy, is another hopeful treatment.
International Rett Syndrome Foundation -- www.rettsyndrome.org
National Organization for Rare Disorders -- rarediseases.org/rare-diseases/rett-syndrome
The disease slowly gets worse until the teen years. Then, symptoms may improve. For example, seizures or breathing problems tend to lessen in the late teens.
Developmental delays vary. Usually, a child with RTT sits up properly, but may not crawl. For those who do crawl, many do so by scooting on their tummy without using their hands.
Similarly, some children walk independently within the normal age range, while others:
For those children who do learn to walk at the normal time, some keep that ability for their lifetime, while other children lose the skill.
Life expectancies are not well studied, although survival at least until the mid-20s is likely. The average life expectancy for girls may be mid-40s. Death is often related to seizure, aspiration pneumonia, malnutrition, and accidents.
When to Contact a Medical Professional
Call your health care provider if you:
Kwon JM. Neurodegenerative disorders of childhood. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 599.
Mink JW. Congenital, developmental, and neurocutaneous disorders. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 417.
Review Date: 10/24/2016
Reviewed By: Amit M. Shelat, DO, FACP, Attending Neurologist and Assistant Professor of Clinical Neurology, SUNY Stony Brook, School of Medicine, Stony Brook, NY. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
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