Caregivers who notice symptoms such as seizures, a problem with limb movement, and sleep disorders in the child should immediately seek help from a neurologist in Karachi. The symptoms correlate with Rett syndrome, which requires medical attention. The treatment can help manage the symptoms, which would allow the patient to function adequately in everyday life. There is no cure for the condition; however, the treatment can enhance the quality of life. Males are at a higher risk of suffering from Rett syndrome.
Symptoms of Rett Syndrome
The symptoms of Rett syndrome are:
- The caregivers can notice that the child has slow physical growth in comparison to other children of the same age group.
- The caregivers can notice that the child suffers from repetitive jerk movements of the limbs.
- The child has difficulty communicating with others.
- The child remains lethargic and agitated most of the time.
- The child suffers from seizures, which may lead to other problems.
- The child has an irregular heartbeat, which may cause other heart-related problems.
- The child suffers from scoliosis, which affects body movement.
- The child suffers from gastrointestinal and sleep disorders, which may induce anxiety.
Causes of Rett Syndrome
The mutation of the MECP2 chromosome causes the individual to suffer from the condition.
Complications Correlated with Rett Syndrome
The complications associated with the condition are:
- The patient has difficulty consuming food. Additionally, due to scoliosis, the person suffers from obesity. It leads to other physical problems.
- The patient is at a higher risk of suffering from heart-related diseases. The life extent of the patient with the condition is relatively low.
- The patient cannot function adequately in their everyday life. They require constant help from others, which leads to anxiety and related psychological disorders.
- The patient suffers from extreme constipation.
- The patient struggles to maintain a healthy sleeping pattern, which causes lethargy and anxiety.
Diagnosis and Treatment Options
The genetic test help detect the mutation in the MECP2 gene. It allows the doctor to understand the cause and severity of the condition.
The medications proven effective in treating the patient with Rett syndrome are:
- Beta-blockers help arrhythmia and related symptoms.
- The patient experiences recurrent seizures. Valproic acid help in managing the seizures.
- The individual is at a higher risk of suffering from clinical depression and psychosis. The antipsychotic drugs help the patient remain calm.
The procedures and therapies that help manage the symptoms are:
- Spinal Fusion: The surgery helps manage scoliosis and its symptoms.
- Physical therapy: The patient struggles to maintain their posture and move frequently. The therapy facilitates the movement of the body to avoid muscle stiffness.
- Occupational Therapy: The therapy helps the patient learn skills that allow them to function adequately in their everyday life.
- Speech Therapy: The patient has slow physical and psychological development. The therapy is proven effective, as the patient learns effective ways to communicate with others.
- The caregivers must remain vigilant regarding their body weight. Obesity can lead to other physical problems. The diet should include food that can help them remain healthy and enhance their motor movement.
- The ketogenic diet is proven effective in enhancing motor movement. The use of coconut, avocado, cheese, and fish in the daily diet can help the patient remain active.
- The caregivers must eliminate the use of sugary items and fruit juices from the diet. The use of fruit juice, honey, and baked items is considered unhealthy as they can cause seizures.
The individuals should visit a specialist at Khatoon Hospital if they notice the symptoms of Rett syndrome in their child. The specialist will guide the caregivers regarding the effective treatment options and changes in the lifestyle that can help avoid the complications correlated to the condition.