Prognosis and Treatment |
Patients diagnosed with Rett Syndrome require varying amounts of medical assistance depending on the severity of each individual case. However, due to loss of motor abilities such as purposeful hand movements, speech, and walking, patients require aid in most activities of daily life.
Prognosis
Due to its rarity, the long-term prognosis and life expectancy for Rett Syndrome is unknown. Most cases are observed in girls 18 or younger, although studies have determined that girls with RTT have a 95% chance of surviving to the age of 20-25 and a 69% chance for age 25-40 (18 Amazing Rett Syndrome Statistics). The average life expectancy is currently estimated to be around 47 years, although further research is needed. Contrary to previous belief, Rett Syndrome is not a degenerative disorder and patients are capable of living full lives with the provision of proper guardianship, medical assistance, and treatment options.
For males with Rett Syndrome, the prognosis is significantly more dire as they typically exhibit extreme symptoms. It may result in miscarriage, stillbirth, or death in early infancy (Rettsyndrome.org).
For males with Rett Syndrome, the prognosis is significantly more dire as they typically exhibit extreme symptoms. It may result in miscarriage, stillbirth, or death in early infancy (Rettsyndrome.org).
Treatment
There is currently no cure for Rett Syndrome; however, treatments to improve symptoms such as medications, physical therapy, occupational therapy, speech-language therapy, nutritional support, behavioral intervention, and other support services for better integration into school and social environments can significantly improve the lives of girls with Rett Syndrome.
Current research for a cure target the mutated MECP2 gene. Approaches from the Rett Syndrome Research Trust include gene therapy, attempting to activate the MECP2 gene on the inactive X-chromosome, and boosting brain neurotrophic factors using various drugs. Other research centers on the irregularities of dopamine system, neurotransmitter levels, and endorphins in the spinal fluid of girls with RTT. Other drugs tested thus far have attempted to target one or more of these irregularities to alleviate symptoms, including those that may be life-threatening, such as seizures.
Unfortunately, there have been no successful drug tests that significantly improved symptoms for Rett Syndrome patients. Most recently, a clinical drug trial has been initiated at the Children's Hospital at John Hopkins Research Center, which will use dextromethorphan to regulate neurotransmitter levels and study the effects of DM on seizures, cognition, and motor impairment (Rettsyndrome.org).
Current research for a cure target the mutated MECP2 gene. Approaches from the Rett Syndrome Research Trust include gene therapy, attempting to activate the MECP2 gene on the inactive X-chromosome, and boosting brain neurotrophic factors using various drugs. Other research centers on the irregularities of dopamine system, neurotransmitter levels, and endorphins in the spinal fluid of girls with RTT. Other drugs tested thus far have attempted to target one or more of these irregularities to alleviate symptoms, including those that may be life-threatening, such as seizures.
Unfortunately, there have been no successful drug tests that significantly improved symptoms for Rett Syndrome patients. Most recently, a clinical drug trial has been initiated at the Children's Hospital at John Hopkins Research Center, which will use dextromethorphan to regulate neurotransmitter levels and study the effects of DM on seizures, cognition, and motor impairment (Rettsyndrome.org).