Snapshot A 5-year-old girl with severe mental retardation was brought to the office for immunizations. Her records show that she was developing normally until 18 months of age when she showed signs of dementia and her head circumference was noted to have plateaued. She wrings her hands and has ataxia with a marked loss of gross motor skills. Introduction X-linked, degenerative neurological disorder Results in reversal of language and dexterity development Linked to a defect in the methl-CpG-binding protein 2 (MeCP2) gene Subtypes of Rett syndrome include atypical begins early (usually immediately after birth) or late (age >3) speech and dexterity-related deficiencies are mild appears in male child classic meets symptom-based diagnostic criteria, with or without genetic defect provisional symptoms appear between ages 1-3 may not be as severe as atypical or classic cases Epidemiology prevalence is 1:10000 may have hereditary component occurs almost exclusively in females in males, defect usually results in miscarriage, stillbirth, or very early demise most common in Swedish, Norwegian, and Northern Italian populations Presentation Symptoms normal development for first 6-18 months of life when symptoms present, they range widely from mild to severe including apraxia loss of purposeful movements in the hands often the first sign of the disease mental slowing (i.e. signs of dementia) abnormal breathing mostly during waking hours, usually normal while sleeping drooling scoliosis difficulty ambulating seizures abnormal sleeping patterns avoids social contact constipation GERD Physical exam apraxia abnormal gait scoliosis decreased head circumference usually starts to become evident at 5-6 months poor circulation indicated by cold, blue extremities Evaluation Diagnosis is based primarily on patient development history and clinical observations Genetic testing may identify genetic mutation responsible for disease, though not in all cases Differential Autism, cerebral palsy Treatment Medical management there is no specific treatment for Rett's syndrome symptom management assistance with feeding and hygeine treat GI disturbances treat seizures carbamazepine physical therapy indicated to avoid hand contracture weight-bearing for scoliosis stem cell therapy and/or gene therapy hopeful future treatment options for such diseases Surgical management feeding tube placement may be indicated in cases at risk of aspiration Prognosis, Prevention, and Complications Prognosis disease progressively worsens until teenage years, when some improvement in breathing may be observed most cases survive until mid-20s, though some reports exist of survival into mid-40s Prevention there are no preventive measures available at this time Complications apiration pneumonia, seizure disorders, malnutrition, prone to accidental injury