INFORMATION ON RETT SYNDROME

Rett syndrome is a complex neurological disorder. That affects mainly girls. Although present at birth, it becomes more evident during the second year. It could occur in any family at any time. Something goes wrong with the genetic makeup of the cells which become the baby.
The symptoms of this disorder are easily confused with those of cerebral
 Rett syndrome is a childhood neurodevelopment disorder characterized by normal early development followed by loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, gait abnormalities, seizures, and mental retardation.  
 

SYNONYMS OF RETT SYNDROME

 1. Pervasive developmental disorder,
 2. Rett syndrome
 3. Cerebroatrophic hyperammonemia
 4. Neurologic disorder,
 5. Neurodevelopmental arrest
 6. Genetic disorder
 7. Autism, Ataxia, and Loss of Purposeful Hand Use  
 

CAUSES OF RETT SYNDROME

Rett syndrome is caused by mutations in the meck-pea-two gene, which is found on the X chromosome. Scientists identified the gene which is believed to control the functions of several other genes in 1999. The meck-pea-two gene contains instructions for the synthesis of a protein called methyl cytosine binding protein 2 meck-pea-two, which acts as one of the many biochemical switches that tell other genes when to turn off and stop producing their own unique proteins. The absence or malfunction of the protein is thought to cause other genes to be abnormally expressed, but this hypothesis has not yet been confirmed.   
 

SYMPTOMS OF RETT SYNDROME

Symptom is usually hypotonia, which is a lack of muscle tone that results in floppy arms and legs
 
 Others are:-
 
 1. screaming fits
 2. panic attacks
 3. inconsolable crying
 4. avoiding looking into other people's eyes
 5. lack of social/emotional reciprocity
 6. general lack of interest
 7. marked impaired use of nonverbal behaviors to regulate social interaction
 8. delay of linguistic development
 9. loss of speech 
  

DIAGNOSIS OF RETT SYNDROME

 1. History: medical and developmental, with attention to autistic features
 2. Review of past growth
 3. Physical examination with Wood’s lamp
 4. Urine and plasma amino acids ,Urine for organic acids
 5. Lactate, pyruvate, Lysosomal enzymes
 6. Karyotype, MRI brain scan, EEG
 7. Ophthalmologic evaluations
 8. Audiometric testing
 9. Blood for toxins if the course is suggestive
 10. Chromosomal analysis may now be used to search for the gene mutation that causes Rett Syndrome. 
  

TREATMENT OF RETT SYNDROME

 1. There is no cure for Rett syndrome. Treatment for the disorder is symptomatic, focusing on the management of symptoms, and supportive.
 2. Since the hands are not used, physical therapy is necessary to prevent them from contracting.
 3. Carbamazepine to treat seizures it also improves alertness in some patients.
 4. Various other treatments, including carnitine and ketogenic diet, have been tried, but without promising results.
 5. Supportive care i.e., assistance with feeding, diapering, etc.
 6. Special academic, social, vocational, and support services may also be required in some cases.