Rett Syndrome (RTT)
What is it?
Rett syndrome is a rare genetic neurological disorder that occurs almost exclusively in girls and leads to severe impairments, affecting nearly every aspect of the child’s life: their ability to speak, walk, eat, and even breathe easily. The hallmark of Rett syndrome is near constant repetitive hand movements. Rett syndrome is usually recognized in children between 6 to 18 months as they begin to miss developmental milestones or lose abilities they had gained. Rett syndrome is caused by mutations on the X chromosome on a gene called MECP2. There are more than 900 different mutations found on the MECP2 gene. Rett syndrome occurs worldwide in 1 of every 10,000 female births, and is even rarer in boys. Rett syndrome can present with a wide range of disabilities ranging from mild to severe. The course and severity of Rett syndrome is determined by the location, type and severity of the mutation and X-inactivation.
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Additional names
This group contains additional names:
- Alpers disease
- Infantile neuroaxonal dystrophy
- Leighs disease
- Progressive sclerosing poliodystrophy
Signs & symptoms
Symptoms of Rett Syndrome may Include:
- Loss of speech
- Loss of purposeful use of hands
- Involuntary hand movements such as handwashing
- Loss of mobility or gait disturbances
- Loss of muscle tone
- Seizures or Rett "episodes"
- Scoliosis
- Breathing issues
- Sleep disturbances
- Slowed rate of growth for head, feet and hands
Diagnosis
Rett syndrome diagnosis involves close observation of the child's growth and development to observe any abnormalities in regards to developmental milestones. A diagnosis is considered when decreased head growth is observed. Conditions with similar symptoms must first be ruled out. There is a certain criteria that must be met for the diagnosis. A blood test can rule in or rule out the presence of the MECP2 mutation, however, this mutation is present in other conditions as well.
For a classic diagnosis, all four criteria for ruling in a diagnosis must be met, as well as the two criteria for ruling out a diagnosis. Supportive criteria may also be present, but are not required for diagnosis. Children are often misdiagnosed as having autism, cerebral palsy, or another form of developmental delay. A positive test for the MECP2 mutation is not enough to make a diagnosis.
Ruling in:
- Decreased or loss of use of fine motor skills
- Decreased or loss of verbal speech
- Abnormalities during gait
- Repetitive hand movements such as wringing/squeezing or clapping/tapping
Ruling out:
- Traumatic brain injury, neurometabolic disease, or severe infection that may better explain symptoms
- Abnormal psychomotor development during the first six months of life
- Supportive criteria
- Breathing disturbances when awake
- Bruxism while awake
- Impaired sleep pattern
- Abnormal muscle tone
- Peripheral vasomotor disturbances
- Scoliosis/kyphosis
- Growth retardation
- Small cold hands and feet
- Inappropriate laughing/screaming spells
- Diminished response to pain
- Intense eye communication (eye pointing)
Treatment
Currently there is no cure for Rett syndrome. Treatment is directed towards improving function and addressing symptoms. A multidisciplinary team approach is typically used to treat the person throughout life. This team may include primary care physician, physical therapist, occupational therapist, speech-language pathologist, nutritionist, and support services in academic and occupational settings. Some children may require special equipment and aids such as braces to arrest scoliosis, splints to modify hand movements, and nutritional programs to help them maintain adequate weight.
Treatment of Rett syndrome includes:
- management of gastrointestinal (reflux, constipation) and nutritional (poor weight gain) issues
- surveillance of scoliosis
- surveillance of long QT syndrome by annual EKG
- increasing the patient's communication skills, especially with augmentative communication strategies
- parental counseling
- modifying social medications
- sleep aids
- selective serotonin reuptake inhibitors (SSRIs)
- anti-psychotics (for self-harming behaviors)
- beta-blockers for long QT syndrome
- occupational therapy, speech therapy and physical therapy
Because of the increased risk of sudden cardiac death, when long QT syndrome is found on an annual screening EKG it is treated with an antiarrhythmic such as a beta-blocker. There is some evidence that phenytoin may be more effective than a beta-blocker.
☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.
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Source of Information - We analyze big data of more than 23 million patients de-identified medical records from the following sources:
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