Retts Syndrome - Causes, Symptoms & Treatment

Rett Syndrome (RS) is a unique neurodevelopmental disorder which begins to show its affects in infancy or early childhood. It is seen almost exclusively in females. The child with RS will have problems that are similar to the other pervasive developmental disorders in terms of communication. Other areas of concern are seizures and dyspraxia (apraxia). Apraxia basically affects the body's way of performing motor skills. Rett's disorder often is confused with the Autistic disorder as girls with RS become irritable and distraught with crying spells similar to Autism. It could occur in any family at any time. Children who have Rett's disorder will have a normal development until between the ages of 6-18 months. Then, the development will stop and often regression will occur. Something goes wrong with the genetic makeup of the cells which become the baby. The prevalence of Rett Syndrome is similar to the prevalence of autism; that is, estimates are between 1 in 10,000 births and 1 in 15,000 births. Rett syndrome is caused by a mutation in the MECP2 gene on the X chromosome. The MECP2 gene is responsible for turning off or regulating the activity of other genes. The MECP2 gene contains instructions for the synthesis of a protein called methyl cytosine binding protein 2 (MeCP2), which acts as one of the many biochemical switches that tell other genes when to turn off and stop producing their own unique proteins.

Rett syndrome is not a degenerative disorder, but rather is a neurodevelopmental disorder. Rett syndrome affects one in every 10,000 to 15,000 live female births. It occurs in all racial and ethnic groups worldwide. Parents later reflected on how it was nearly impossible to comfort them during their episodes. As many as 75% of all girls with RS had been previously diagnosed with the Autism Spectrum Disorder. Adult women with Rett syndrome show many individual differences in the severity of their disability.All women with Rett syndrome are incapable of living independently and require constant care throughout their lives. Innovative and flexible living arrangements such as group homes are becoming the norm in many cases. There are several treatments options available treat for rett-sydrome. Occupational therapy , physiotherapy, and hydrotherapy may prolong mobility. Medication may be needed for breathing irregularities and motor difficulties, and antiepileptic drugs may be used to control seizures. Some children may require special equipment and aids such as braces to arrest scoliosis, splints to modify hand movements, and nutritional programs to help them maintain adequate weight. Special academic, social, vocational, and support services may also be required in some cases.

Causes of Retts Syndrome

Common Causes and Risk factors of Retts Syndrome

• Spontaneous mutation of the X chromosome.
• Gne MECP2.

Signs and Symptoms of Retts Syndrome

Common Sign and Symptoms of Retts Syndrome

• Language and growth retardation
• Slow head growth.
• Seizures.
• Bone fractures.
• Agitation.
• Constipation.
• Abnormal Breathing.
• Hyperventillation.

Treatment of Retts Syndrome

Common Treatment of Retts Syndrome

• Drugs may help control some of the symptoms associated with the disorder — such as epileptic seizures.
• Orthopedic surgery may be needed for severe cases of scoliosis.
• In some cases, physical therapy can help maintain walking skills, and occupational therapy may improve purposeful use of the hands.
• Some children may require special equipment and aids such as braces to arrest scoliosis, splints to modify hand movements, and nutritional programs to help them maintain adequate weight.
• Therapy has also included administration of levodopa (L-dopa), a precursor of dopamine, or medications that mimic the effects of dopamine (dopamine agonists).
• Physical therapy may help to improve balance and the ability to walk, maintain flexibility, and strengthen muscles
• Regular monitoring for scoliosis is important to ensure prompt detection and early.