1. Watch for Developmental Impairments in Infants
Rett Syndrome, a neurodevelopmental disorder that affects girls exclusively, is usually first noticed when your child is six to 18 months of age. The so-called early onset stage of Rett syndrome can be marked by signs and symptoms that include a lack of interest in toys and games, reduced eye contact with others and a delay in physical development. Children suffering from Rett syndrome often learn to sit up and crawl much later than normal. Once these symptoms are identified, you and your pediatrician can take steps to diagnose the condition.
2. Use Genetic Testing to Confirm a Diagnosis
Once developmental impairments are noticed in your child, a series of genetic tests can be scheduled to identify genetic abnormalities. A test has been developed by research scientists that can accurately detect a MECP2 mutation on the X chromosome. This test can diagnose Rett syndrome correctly about 80 percent of the time.
About 15 percent of all Rett syndrome cases are not detected by this test. If the symptoms and signs are still consistent with this condition, your pediatrician may diagnose your child with atypical Rett syndrome and continue with treatment in the same way.
3. Meet With a Specialist for Further Diagnosis
Once your pediatrician has confirmed Rett syndrome, he may bring in an additional specialist to evaluate your child's condition and offer a prognosis and treatment plan. A pediatric neurologist or developmental pediatrician will test and diagnose your child's condition based upon essential, supportive and exclusion criteria.
Essential criteria include observing the child for common symptoms of Rett syndrome, including repetitive hand movement, shaking of the torso, walking on the toes and a stiff gait. Supportive diagnostic criteria include symptoms that may only appear in some Rett syndrome patients, such as breathing difficulties, abnormalities in electroencephalogram (ECG) readings, seizures, muscle rigidity, scoliosis and teeth grinding. Exclusion criteria refer to signs that would exclude a diagnosis for Rett syndrome and indicate another medical condition. These signs include enlargement of certain internal organs, vision loss, metabolic disorders and brain damage.
