Rett syndrome treatment options may soon include a new early intervention treatment that could have life-saving results. Current treatments involve the management of symptoms through medication, occupational therapy and assistance with daily life tasks. However, a recent 2009 Massachusetts Institute of Technology (MIT) study offers hope for the development of an effective new treatment for Rett syndrome that could eliminate some symptoms. The possible new treatment could greatly improve the quality of life of individuals with Rett syndrome. How does the new treatment compare to current treatment options?
About Rett Syndrome
Rett syndrome is a rare neurological disorder that affects brain growth, learning ability and physical development. Doctors typically diagnose the condition during infancy or toddler years. During this time period, symptoms may appear abruptly and cause of a loss of previously gained developmental skills. Apraxia, an impairment in the ability to perform motor movement, is the hallmark of the disorder. Common symptoms can include:
- Loss of fine and gross motor skills
- Diminished speech and communication skills
- Less eye contact
- Problems with learning
- Slow head growth
- Self-stimulatory and repetitive behavior such as hand flapping and clapping
The disorder tends to occur in females. The disorder is fatal in males, with death occurring before or shortly after birth. According to the National Institute of Neurological Disorders and Stroke, Rett syndrome occurs in one in every 10,000 to 15,000 female births. The American Psychiatric Association defines Rett syndrome, along with autism, as one of five pervasive development disorders in the DSM IV-TR.
Every case of Rett syndrome is unique and not everyone will experience the same set of symptoms. Early intervention and proper treatment provide the best prognosis for a full and healthy life.
Rett Syndrome Treatment Overview
Today, Rett syndrome treatments are a combination of treating symptoms and assisting with daily life tasks. Since each person experiences Rett syndrome differently, treatment plans vary.
Treatment plans may involve a combination of the following:
- Physical therapy
- Speech therapy
- Occupational therapy
- Special education services
- Vocational services
- Life assistance equipment such as wheelchairs
Doctors prescribe medication to lessen the severity of symptoms. Common medications for Rett syndrome symptoms include:
- Naltrexone (ReVia): ReVia is an opiate antagonist that can help regulate irregular breathing. Yet, a study suggests that the drug speeds up the progression of the disease.
- Levodopa (L-dopa): L-dopa therapy, a synthetic dopamine drug, can help relieve muscle stiffness.
- Levocarnitine (L-carnitine): Some people with Rett syndrome who take anticonvulsants to prevent seizures experience carnitine deficiency. L-carnitine effectively treats the deficiency.
- Tyrosine (dopamine and noradrenalin) and tryptophan (serotonin): These amino acids can improve neurotransmitter levels in the brain.
- Bromocripitine (Parlodel): Parlodel can improve the brain's dopamine function. The drug helps with self-stimulatory hand movements.
Antipsychotics and anticonvulsants are also sometimes used to treat various symptoms.
Physical and Occupational Therapy
A person with Rett syndrome can benefit from physical and occupational therapy to improve muscle coordination and rigidity and provide more purpose to hand and body movements. The therapy can relieve joint contracture, improve balance, build flexibility and help maintain an ability to walk. The therapy can also help an affected person gain some level of independence in caring for themselves.
Special Diets and Nutritional Therapy
Rett syndrome may make it difficult for a person to gain weight and maintain a healthy weight. Special diets can help a person maintain an ideal weight and nutritional balance, which may contribute toward making symptoms less severe. Sometimes chronic constipation occurs and a high fiber diet works best. Some cases may also require additional liquid nutrients through feeding tubes.
2009 Massachusetts Institute of Technology Study
In February 2009, MIT's Picower Institute for Learning and Memory and the Whitehead Institute for Biomedical Research announced the results of a study that successfully reduced the symptoms of Rett syndrome in mice using a molecule that improves brain development. The study was reported on the February 10 online edition of the Proceedings of the National Academy of Sciences.
Scientists gave daily injections of a peptide fragment of growth factor-1 (IGF-1), to mice who were genetically engineered to demonstrate Rett syndrome symptoms. Over a period of time, the injections eliminated a number of symptoms and lessened the severity of others.
The Study's Effect on Rett Syndrome
Some experts believe that Rett syndrome is largely due to a mutation in the methyl CpG-binding protein 2 (MECP2) gene on the X chromosome, which then produces less of a related protein, MeCP2, and can cause impairments in critical cell growth. The impairments cause cells to fail to mature and disrupts brain development. In a sense, some key brain developmental activity is turned off. When this happens, Rett syndrome symptoms can occur. IGF-1 can address deficiencies in MeCP2, help critical cell mature and activate important brain activity. IGF-1, which is used by the brain for neuronal and synaptic growth, is currently used as a growth disorder treatment and to control blood glucose imbalances. The molecule IGF-1 affects a large percentage of cells in the human body and regulates cell growth and nerve cell development.
During the study, the IGF-1 increased MeCP2 levels in treated mice and some impaired cells matured and symptoms such as motor performance and irregular breathing improved.
The results of the study indicate that a possible treatment using a form of IGF-1 can improve or eliminate certain Rett syndrome symptoms and possibly encourage healthy brain development.
Progress of the Possible Treatment
The MIT and Whitehead Institute scientists are in the process of developing a protocol to study the effect on IGF-1 on human beings with Rett syndrome. This is one of the first steps toward creating a possible treatment for Rett syndrome using IGF-1.
The MIT study results have the potential to lead to a groundbreaking new Rett syndrome treatment. Current treatments help improve symptoms. However, the IGF-1 data reveals a possible way to reverse certain symptoms and encourage healthy brain development. Future research has the potential to lead to Rett syndrome's most effective treatment option or possibly a clue to a cure.