About Rett Syndrome
Rett syndrome is a neurodevelopmenal disorder that is seen almost exclusively in girls. It is estimated to affect one in every 10,000 to 15,000 live female births, in all racial and ethnic groups worldwide. Nearly all cases of Rett syndrome are caused by a mutation in the methyl CpG binding protein 2, or MECP2. Prenatal testing is available for families with an affected daughter who has an identified MECP2 mutation.
Rett syndrome can present with a wide range of disability ranging from mild to severe. The course and severity is determined by the location, type and severity of the mutation.
Often misdiagnosed as autism, cerebral palsy or non-specific developmental delay, Rett syndrome is characterized by a slowing of development and problems with brain function. These problems in brain functioning can affect learning, speech, sensory sensations, mood, movement, breathing, cardiac function, chewing, swallowing and digestion.
Symptoms
Children with Rett syndrome appear to grow and develop normally, but there may be subtle abnormalities starting in early infancy, such as loss of muscle tone (hypotonia), difficulty feeding and jerkiness in limb movements. Other early symptoms may include problems crawling or walking, diminished eye contact, walking on the toes, sleep problems, a wide-based gait, teeth grinding and difficulty chewing, slowed growth, seizures, cognitive disabilities and breathing difficulties while awake such as hyperventilation, apnea (breath holding) and air swallowing.
As the child gets older (age 1-4) and the syndrome progresses, both physical and mental symptoms appear. Gradually or suddenly, the child loses purposeful use of the hands, followed by compulsive hand movements such as wringing and washing, and the ability to speak. Breathing irregularities, such as episodes of apnea and hyperventilation, may occur. Walking may be unsteady and initiating motor movements can be difficult. Slowed head growth is usually noticed, and some girls may exhibit autistic-like symptoms, such as loss of social interaction and communication.
Diagnosis
Here in Rady Children’s Neurology division, children are diagnosed and treated at our Rett Syndrome Clinic.
Doctors diagnose Rett syndrome by observing signs and symptoms during the child’s early growth and development and conducting ongoing evaluations of the child’s physical and neurological status. If the physician suspects Rett syndrome, a genetic test for the the MECP2 mutation can be performed. A pediatric neurologist, clinical geneticist or developmental pediatrician should be consulted to confirm the clinical diagnosis of Rett syndrome.
Treatment
As there is no cure for Rett syndrome, treatment focuses on the management of symptoms, which requires a multidisciplinary approach.
Medication may be required for breathing irregularities and motor difficulties, and anticonvulsant drugs may be used to control seizures. Regular monitoring should be done for scoliosis and possible heart abnormalities. Occupational therapy can help children to perform day-to-day tasks and activities such as dressing, feeding and doing arts and crafts. Physical therapy and hydrotherapy may help to extend mobility. Some children may require special equipment and aids, such as braces to prevent scoliosis, splints to modify hand movements and nutritional programs to help them maintain adequate weight. Academic, social, vocational and support services may also be needed.