Making a Diagnosis At present, the diagnosis of Rett Syndrome depends upon documentation of a girl's early growth and development and continuing evaluation of her medical history and physical status. No laboratory tests are available to confirm the clinical diagnosis. There is a period of normal development up to about 6 to 18 months of age. The girls typically finger feed and sit independently at the expected time and some start the use of single words and word combinations. Many girls are misdiagnosed with autism or cerebral palsy. Diagnostic Criteria..... Required for the recognition of Rett Syndrome * Period of normal development until between 6    and 18 months. * Normal head circumference at birth followed    by slowing of the rate of head growth with    age (starting between 6 months and 4 years). * Severely impaired expressive and receptive    language. * Intellectual development appears to be    delayed, but true intelligence is difficult to    measure. * Loss of acquired purposeful hand skills    beginning age 1 to 4 years. * Repetitive hand movements including hand    washing, hand wringing, hand clapping and    hand mouthing which can become almost    constant while awake. * Shakiness of the torso, which may also    involve the limbs, particularly when the child    is upset or agitated. * Unsteady, wide-based, stiff-legged gait, and    sometimes toe-walking. Diagnostic Criteria..... Symptoms not required for the diagnosis, but which may also be seen * Breathing dysfunctions which include breath    holding or apnea, hyperventilation and air    swallowing which may result in abdominal    swelling. * EEG abnormalities which include slowing of    normal electrical patterns, the appearance of    epileptiform patterns and a reduction in REM    (or dream) sleep. * Seizures (in up to 80% of patients). * Muscle rigidity/spasticity/joint contractures. * Scoliosis (curvature of the spine). * Teeth grinding. * Small feet. * Growth retardation. * Decreased body fat and muscle mass. * Abnormal sleep patterns and irritability. * Poor circulation of the lower extremities, with    the feet and the legs often cold and bluish-   red. * Decreased mobility with age. It's important to note that all girls don't display all of the above symptoms. A pediatric neurologist or developmental pediatrician should be consulted to confirm the clinical diagnosis. Back to Top
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