Understanding Rett Syndrome Symptoms

Rett Syndrome, also referred to as RTT, is a rare genetic disorder of the nervous system that affects brain development in girls. It is named after Andreas Rett, an Austrian physician who first recognized the condition in 1966.

The disorder is caused by a mutation in the MECP2 gene, located on the X chromosome. Rett Syndrome affects around 1 in 10,000 to 15,000 girls and is rarely seen in boys. Affected individuals experience a range of physical and mental disabilities that can vary in severity.

Signs and Symptoms

One of the Rett Syndrome’s most noticeable characteristics is that the child appears to develop usually until around six months. At this stage, they experience regression and start to lose their acquired skills.

Here are some common Rett Syndrome symptoms:

Decreased Muscle Control

Reduced muscle tone, also called hypotonia, is one of the earliest recognisable symptoms of Rett Syndrome.

This symptom can cause the affected child to have difficulty maintaining their balance, coordinating their movements and controlling their body, which may also lead to clumsiness and a delay in motor skill development.

Language and Social Skills

Rett Syndrome can severely impair communication and social interaction ability. Many children with Rett Syndrome are unable to speak or say only a few words. They may also have difficulty making eye contact, smile, or respond to others.

They also may display repetitive behaviours such as hand clapping, biting, and teeth grinding. Social withdrawal and avoidance of physical contact are common.

Hand Movements

Hand movement is a common symptom of Rett Syndrome. Most affected children exhibit repetitive hand wringing or finger tapping movements. However, they may also undergo involuntary hand movements, such as holding their hands to their mouths, clapping or washing their hands repeatedly.

Breathing Problems

The majority of individuals with Rett Syndrome experience irregular breathing patterns, such as hyperventilation and breath-holding spells during the day. They may also have periods of apnea or cessation of breathing, especially during sleep.

Diagnosis of Rett Syndrome

Rett Syndrome is diagnosed through genetic testing or by detecting the signs and symptoms mentioned above. An EEG (electroencephalogram) may also be used to determine the presence of abnormal brain activity.

If a child is showing symptoms of Rett Syndrome, it is important to see a healthcare professional for diagnosis and appropriate treatment. Early diagnosis allows for better management of the symptoms and the earlier implementation of therapies, such as occupational therapy and speech therapy.

Treatment Options

Currently, there is no cure for Rett Syndrome. However, there are different treatment options available to help manage the symptoms.

Treatment options include:

Occupational Therapy

Occupational therapy assists children with Rett Syndrome in attaining the necessary skills to perform everyday activities. This therapy focuses on fine motor skills, sensory integration, and general activities of daily living, such as bathing, dressing and eating.

Speech Therapy

For children with Rett Syndrome who have difficulty communicating, speech therapy can help them to develop their language and communication skills.

Medications

Although there are no medications to cure Rett Syndrome, certain medications may be prescribed to help manage specific symptoms. Some medications used include anticonvulsants, antidepressants and muscle relaxants.

Physical Therapy

Physical therapy can assist the child in improving their overall functioning and mobility. Physical therapy sessions are typically designed to fit each child’s needs, focusing on exercises to improve range of motion, gait, balance and strength.

Conclusion

Rett Syndrome is a rare genetic disorder that affects brain development in girls, resulting in a range of physical and mental disabilities. Early diagnosis and intervention are key to managing the symptoms of the condition effectively. There is no cure for Rett Syndrome, but different therapies can help alleviate its symptoms and improve the lives of those affected by it.

FAQs

FAQs about Retts Disorder Symptoms

What are the main symptoms of Retts Disorder?

Retts Disorder is characterized by a wide range of symptoms which may vary in severity from person to person. The most common symptoms include social withdrawal, loss of purposeful hand movements, lack of eye contact, delay in speech development and regression of acquired skills including communication and motor skills. Other symptoms include poor muscle tone, breathing difficulties, anxiety, sleep disturbances, seizures, and scoliosis.

What is the age range when symptoms of Retts Disorder become noticeable?

The symptoms of Retts Disorder usually become noticeable between six months and two years of age when the child’s development starts to regress. Parents may notice that their child has stopped making eye contact or no longer responds to his or her name. The first sign of Retts Disorder is usually a delay in speech development, with babbling and cooing being delayed, followed by a loss of receptive and expressive language. Parents may also notice that their child has lost interest in toys and its surroundings, has unusual hand movements, and struggles with balance and coordination.

Can Retts Disorder be diagnosed accurately?

Retts Disorder can be difficult to diagnose, and it is essential to visit a pediatrician or a developmental specialist if parents suspect that their child has the disorder. The diagnosis is made based on the child’s behavior, developmental milestones, medical history, physical examination and a battery of tests. A genetic test can confirm the presence of a mutation in the MeCP2 gene, which is associated with Retts Disorder. Early diagnosis is critical to managing the symptoms of the disorder and providing appropriate support to the child and family.


References

1. American Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders (5th ed.). Arlington, VA: American Psychiatric Publishing.

2. Zoghbi, H. Y. (2005). Rett syndrome and the neurobiology of MeCP2. The Journal of Neuroscience, 25(26), 5895-5900. https://doi.org/10.1523/JNEUROSCI.1120-05.2005

3. Chahrour, M., & Zoghbi, H. Y. (2007). The story of Rett syndrome: From clinic to neurobiology. Neuron, 56(3), 422-437. https://doi.org/10.1016/j.neuron.2007.10.001