What is Rett-Syndrome

Rett syndrome (Rett syndrome, Rett's disorder) is a progressive neurological disorder. The symptoms of this disorder are easily confused with those of cerebral palsy. The clinical ...

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Rett Syndrome Information

Rett syndrome (Rett syndrome, Rett's disorder) is a progressive neurological disorder. The symptoms of this disorder are easily confused with those of cerebral palsy. The clinical diagnosis specifies a small head and small hands and feet. Stereotypical repetitive hand movements such as mouthing or wringing of the hands are also included as diagnostic signs. Symptoms of the disease include learning disorders and a total inability to socialize. Girls with Rett syndrome are very prone to seizures and gastrointestinal disorders. They typically have no verbal skills, and about 50% of females are ambulatory.

Rett syndrome (symbolized RTT) is X-linked dominant, affecting almost exclusively girls. Development is normal until 6-18 months, when language and motor milestones regress, purposeful hand use is lost and acquired microcephaly is seen. Hand-wringing and sighing are characteristic, and those affected develop autistic behavior. Rett syndrome is usually caused by a mutation in the gene encoding methyl-CpG-binding protein-2 (MECP2). MECP2 is found on chromosome band Xq28, near the long end of the X chromosome. Rett syndrome can also be caused by a mutation to the gene encoding cyclin-dependent kinase-like 5 (CDKL5). Rett syndrome affects one in every 12,500 female live births.

Depending on the severity of psychomotoral and cognitive impairment, 2-15% of patients may achieve a nonretarded level of functioning through various rehabilitation methods. Marriage, success in achieving employment and independent living can be achieved during adulthood. Currently there is no cure for Rett syndrome.

Treatment of Rett disorder includes: increasing the patient's communication skills, counseling, modifying social difficulties, behavioral interventions

Treatment usually requires consultations from: speech and language therapist, neuropsychologist/psychologist/counselor, and/or neurologist/neuropsychiatrist

Common drug prescriptions include: antidepressants (SSRIs), antipsychotics, beta-blockers, opioid antagonists

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