What Is Rett Syndrome?

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Rett syndrome is a neurodevelopmental disorder that occurs almost exclusively in girls. kidscures.org

Rett syndrome is a unique postnatal neurodevelopmental disorder that occurs almost exclusively in girls, but can also be rarely seen in boys. The condition affects an estimated 1 in 10,000-15,000 females from all racial and ethnic backgrounds.

Causes of Rett Syndrome

Using a systematic gene screening approach, scientists have discovered that classic Rett syndrome and some variant forms are caused by gene mutations in the MECP2 gene, which codes for the production of methyl-CpG binding protein-2 (MeCP2) that is vital for normal brain function.

Stages of Rett Syndrome

Rett syndrome causes cognitive, sensory, emotional, motor, and nervous system dysfunction. Individuals with Rett syndrome typically progress through the following four stages:

Stage 1 (6-18 months)

Normal development occurs for a period of 6-18 months, until the onset of the disorder begins to take place. Infants develop a slowing down or progressive developmental stagnation. They become disinterested in play, fail to make eye contact with others, have gross motor developmental delay (in sitting or crawling), and/or experience a total loss of purposeful movement. 

Stage 2 (1-4 years)

Rapid regression starts between 1 and 4 years old with a loss of speech and purposeful use of hands. Children exhibit repetitive, purposeless hand movements and begin making repeated hand wringing, washing, or clapping motions. Other signs and symptoms at this stage include difficulty walking, loss of coordinated muscle movement, breathing abnormalities, seizures, sleep disorders, swallowing dysfunction, and irritability.

Some children may also display bouts of holding their breath or hyperventilating and may cry or scream for no apparent reason. 

Stage 3 (2-10 years)

In stage three, improvements in behavior become evident where the child is usually less irritable. Their ability to make eye contact and use their hands to communicate generally improves during this stage as well.

However, mental impairment, along with motor dysfunctions such as involuntary tongue movements, teeth clenching, difficulty eating, and some degree of oral motor dysfunction take place. They also continue to display breathing abnormalities and have poor weight gain, despite good appetite. Also, scoliosis typically begins toward the later part of this stage.

Stage 4 ( > 10 years)

Although communication, cognitive skills, or hand skills do not decline further during this stage, there is a rapid motor deterioration that takes place. Individuals experience reduced or loss of mobility and require specialized care and assistance throughout their lives.

Treatments for Rett Syndrome

If you notice early signs of Rett syndrome, it is important to see your child’s pediatrician right away. Early intervention involves a multidisciplinary evaluation and treatment that involves speech and language therapy, hydrotherapy, massage, psychosocial support, and dietary planning.

There are no specific medications for treating Rett syndrome.

However, studies are being conducted to test the effectiveness of recombinant human insulin-like growth factor 1 (IGF-1) on a possible pharmacological treatment for Rett syndrome and other central nervous system disorders. Furthermore, research conducted studying the role of the MECP2 gene in maintaining neuronal function suggests possible reversal of neuronal symptoms in mice after reactivation of the silenced MECP2 gene. 

Author Byline: Dr. Douglas Haddad is an author, nutritionist, and middle school teacher in Connecticut who is a regular contributing writer to Parenting Special Needs magazine in the “Ask the Professional: Dr. Doug” section. For more information on empowering your kids and assisting in their maturation, decision-making, overall development and well-being, visit Dr. Doug’s official website.

References:

1. Bernstein, B. Medscape. Rett Syndrome. Retrieved from http://emedicine.medscape.com/article/916377-overview.

2. Bird A. The methyl-CpG-binding protein MeCP2 and neurological disease. Biochemical Society Transactions 2008; 36: 575–583.

3. Moretti P, Zoghbi HY. MeCP2 dysfunction in Rett syndrome and related disorders. Current Opinion in Genetics & Development 2006; 16: 276 –281.

4. Treatment of Rett syndrome and other disorders. Retrieved from http://www.google.com/patents/US20120177630

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