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.
Males born with this defective gene do not have a second X chromosome to make up for the problem. Therefore, the defect usually results in miscarriage, stillbirth, or very early death.
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.
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.
Daniel Glaze is a Neurologist and a Pediatrics doctor in Houston, Texas. Dr. Glaze has been practicing medicine for over 48 years and is rated as an Elite doctor by MediFind in the treatment of Rett Syndrome. He is also highly rated in 7 other conditions, according to our data. His top areas of expertise are Rett Syndrome, Angelman Syndrome, Autism Spectrum Disorder, and Drug Induced Dyskinesia. He is licensed to treat patients in Texas. Dr. Glaze is currently accepting new patients.
Alan Percy is a Neurologist and a Pediatrics doctor in Birmingham, Alabama. Dr. Percy is rated as an Elite doctor by MediFind in the treatment of Rett Syndrome. He is also highly rated in 5 other conditions, according to our data. His top areas of expertise are Rett Syndrome, Autism Spectrum Disorder, Drug Induced Dyskinesia, and Angelman Syndrome. He is licensed to treat patients in Alabama. Dr. Percy is currently accepting new patients.
Jeffrey Neul is a Neurologist and a Pediatrics doctor in Nashville, Tennessee. Dr. Neul has been practicing medicine for over 22 years and is rated as an Elite doctor by MediFind in the treatment of Rett Syndrome. He is also highly rated in 5 other conditions, according to our data. His top areas of expertise are Rett Syndrome, Autism Spectrum Disorder, Angelman Syndrome, and Drug Induced Dyskinesia. He is licensed to treat patients in Tennessee. Dr. Neul is currently accepting new patients.
The following groups can provide more information and support for people with Rett syndrome and their families:
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.
Call your health care provider if you:
Published Date : November 04, 2020
Published By : Amit M. Shelat, DO, FACP, FAAN, Attending Neurologist and Assistant Professor of Clinical Neurology, Renaissance School of Medicine at Stony Brook University, Stony Brook, NY. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
Kwon JM. Neurodegenerative disorders of childhood. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 617.
Mink JW. Congenital, developmental, and neurocutaneous disorders. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 389.