What is Rett Syndrome?
Rett syndrome is a medical condition which is brought about by inheriting faulty genes. It affects one in about 12 thousand females and is rarely observed in males. This genetic disorder can bring about severe physical and mental disability that starts during early childhood. Within the first few months of life this disorder may remain undiagnosed with no symptoms however as time goes by the parents would usually observe features of the disease.
There are four stages of Rett syndrome. Stage one is marked by early signs and slow development during the first 6-18 months of the infant’s life. These signs include a general slowness in development, floppiness, difficulty feeding, abnormal hand movements, less interest in social contact and eye contact, not very interested in toys and walking awkwardly and poor coordination of trunk and limbs.
Stage two is termed as the regression stages and usually begins between the ages of one and four and may last for weeks or months. The child may suddenly or progressively develop communication problems, learning problems, language problems, coordination problems and other problems in brain functioning. The signs at this particular stage include inability to use the hands purposefully, repetitive and uncontrollable hand movements, periods of distress, irritability and sometimes screaming for no obvious reason, social withdrawal and loss of interest in people, unsteadiness of the body and awkward walking, rapid or slow breathing that includes some breath-holding spells, problems sleeping, slowing of head growth leading to small head size, difficulty eating or chewing or swallowing and tummy aches, bloating and constipation.
Stage three is said to be the plateau stage and usually begins between ages 2 and 10 and can last for years. The signs prominent may include floppiness of the limbs and difficulty moving around, not being able to use their hands to hold or carry or manipulate objects, teeth grinding and abnormal tongue movements and not gaining much weight. Most of these children will develop epilepsy which may usually start at two years old. These children may also develop irregular breathing patterns and heart rhythm abnormalities. Girls with Rett syndrome may show during this stage an improvement in behaviour with less irritability and crying, interest in her surroundings and improvement in alertness, attention span, interest in people and communication. Majority of these girls will remain like this throughout life.
Stage four is also known as deterioration in movement and may last for years or even decades. These main symptoms include bending of the spine on one side or scoliosis, spasticity or abnormal stiffness, and loss of ability to walk. However, the repetitive hand movements may decrease and eye gaze usually improves. The seizures may also decrease during adolescence and adult life.
Growth Factor Shows Potential in Treating Rett Syndrome
Recently, a small clinical trial has found out that a growth factor known as IGF1 can help treat some symptoms of Rett syndrome. In this study, children who were given this drug for four weeks showed improvements in mood and anxiety, as well as easier breathing. This trial was done by researchers from Boston Children’s Hospital. These researchers have also found out that in mice, another drug, clenbuterol, appears to enhance the effectiveness of IGF1. In this trial, the researchers gave the drug to 12 girls ranging in age from 2 to 10, all of whom had Rett syndrome. Each girl received the drug for four weeks, and there were no adverse side effects. There were also observed improvements in mood and in respiratory function. More studies are needed to determine the efficacy of this drug in Rett syndrome.
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