Rett Syndrome

Hope you remember Manirathnam’s beautiful film “Anjali”. Anjali was a movie about an autistic dying child and the emotional trauma experienced by her family. Autism and its counterpart neuro-developmental diseases seem to be a curse to humanity. Rett syndrome is a neuro development disorder, which is generally considered as an autism spectrum disorder. This disorder was identified by Dr. Andreas Rett, in 1966. It mostly affects the girl children. Rett syndrome is characterized by normal early growth and development followed by a slowed development, distinctive hand movements, problems with walking, seizures, slowed brain and head growth and intellectual disability. Apraxia is the worse feature of this disorder. Apraxia is the inability to execute purposeful movements such as motor functions (brushing the teeth) despite having the physical ability to do so.

 

 

A mutation in MECP2 gene causes this condition, in almost all cases.MECP2 gene doesn't work properly in Rett syndrome affected individuals. It causes to produce structurally abnormal forms of protein.

 

 

 

There are four stages for this disorder.

 

Stages 1:
The first stage is called early onset phase. This stage usually begins between 6 and 18 months of age. In this stage, the symptoms usually may go unnoticed because parents will not pay much attention to the child's lack of interest towards toys. There may be much delay in the child' movements but parents would let go of it because the child is so small. These symptoms are not enough to draw attention.

 

The second stage is called as rapid destructive stage. This stage usually begins with ages 1 and 4. In this stage child loses skills like purposeful movements and ability to speak, quickly. Breathing irregularities can also happen in this stage. 

 

Plateau Phase is the third stage of Rett Syndrome. This phase begins between ages 2 and 10. This phase might last for long years. However, the child may show some improvement in physical conditions and behavior in Plateau Phase but apraxia and seizures can be prominent. The affected person may remain in this stage forever in some cases.

 

The main features of this stage are curvature of the spine, muscle weakness, reduced mobility, and spasticity etc. Communication, Cognition, or hand skills generally do not decline in this stage but affected people may stop walking in this stage. 

 

 

Rett Syndrome-Diagnosis 

An advanced clinical diagnosis is developed for identifying the Rett syndrome. This test can find the MCEP2 gene mutation on affected child's X chromosome. A Developmental Pediatrician or a pediatric neurologist can confirm the clinical diagnosis of Rett syndrome. They use a highly specific set of guidelines that are divided into three types of clinical criteria as ‘essential’, ‘supportive’, and ‘exclusion’. The presence of any of the exclusion criteria confirms a diagnosis of Rett syndrome.

 

Sadly, no medicine or treatment is available, to cure Rett syndrome. Physical therapists, Speech-language therapists, Occupational therapists can help the patience to improve their condition. Physical therapy helps the patient to improve her physical status. It helps to keep the muscles of the hand from contracting. Patient should be treated with ultimate care. Although autistic patients may need, help in feeding as well as in other daily work.