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Rett Syndrome- Medical Genetics, Pediatrics

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What is Rett Syndrome?      

Rett syndrome is a unique and severe postnatal neurological disorder which mainly affects mostly girls. However, it may rarely affect boys. This condition is generally discovered during the first two years of life.

A pediatrician i.e. a doctor who has specialized in treating disorders of children will be the primary physician who should be consulted.

Causes:

It is caused due to the mutations on the X chromosome on a gene known as MECP2.

Symptoms:

Symptoms of Rett syndrome do not appear in the first 6 months of the life. Major symptoms occur between the age of 1 year to 1.5 year. The symptoms can appear suddenly or progress slowly.

  • Delayed growth: The head of the baby would be smaller, and the brain would not develop properly.
  • Trouble in coordination and muscle movement: Patient would squeeze or rub their hands together and forget the purposeful use of their hands. Their walking pattern may get different.
  • Inappropriate breathing pattern: Patient would have uncoordinated breathing as well as seizures. Patient may have very fast breathing pattern (hyperventilation), may exhale forcefully, and may swallow air.
  • Loss of communication skills: Patient’s social and language skills begin to decline between the age of 1 to 4 years.
  • Anxiety and increased irritability
  • Sleep disturbances

Diagnosis:

  • Clinical diagnosis: This is done based on the symptoms of the patients along with discussing the parents’ observations.
  • Genetic testing: A blood test to identify the MECP2 mutation may be done to diagnose this condition.

However, MECP2 mutation occurs in other disorders as well. Thus, the appropriate diagnosis would be based on genetic testing along with clinical diagnosis.

Treatment:

There is no cure for Rett syndrome. Treatments are mainly provided to improve the symptoms. Following are the best treatment options for this rare disease:

  • Regular medical care
  • Medications to control seizures
  • Healthy diet
  • Speech therapy
  • Physical therapy
  • Occupational therapy
  • Behavioural therapy
  • Supportive services

References

  • https://www.webmd.com/brain/autism/rett-syndrome#1
  • https://www.rettsyndrome.org/about-rett-syndrome/what-is-Rettsyndrome
About the Author:

Dr. Anand Lakhkar is a physician scientist from India. He completed his basic medical education from India and his postgraduate training in pharmacology from the United States. He has a MS degree in pharmacology from New York Medical College, a MS degree in Cancer/Neuro Pharmacology from Georgetown University and a PhD in Pharmacology from New York Medical College where he was the recipient of the Graduate Faculty Council Award for academic and research excellence.  His research area of expertise is in pulmonary hypertension, traumatic brain injury and cardiovascular pharmacology.  He has multiple publications in international peer-reviewed journals and has presented his research at at prestigious conferences.

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