October is Here! Let's Pass the Word on Rett Syndrome

Let’s buckle up and spread awareness about Rett syndrome, a rare genetic disease resulting in neurodevelopmental delays.

Highlights:

October is widely recognized as the Rett syndrome awareness month.
Rett syndrome is a rare genetic condition that leads to neurological and developmental delays.
Utilize this month to understand, learn, support and spread awareness about those strong girls who combat Rett every single day.

October is here and so is Rett syndrome awareness month. The month of October is widely recognized as the Rett syndrome awareness month, where the society as a whole spreads awareness about the genetic disease in support of all the children and women who deal with Rett. Imagine being unable to talk, walk, eat, or use your hands the way you would like to - that is Rett syndrome in a nutshell.

Rett Syndrome – Causes – Symptoms – Signs – Diagnosis - Treatment
Rett Syndrome is a neurological disorder that affects development. It mostly affects the girl child.

‘Take time off this month to support and spread awareness about Rett syndrome in your own little ways.’

Rett Syndrome

Rett syndrome is a rare genetic disease characterized by neurological and developmental disorders. It occurs almost exclusively in females but is also rarely observed in males. It affects the way the brain develops causing a progressive inability to use muscles for movement and speech.

Most babies with Rett syndrome appear to develop normally at first, but after 6 months of age, they suddenly or gradually lose previously acquired skills including the ability to crawl, walk, communicate or use their hands. Over time, the symptoms worsen to include problems with coordination and development of seizures and intellectual disabilities.

Discovery Fuels Hope for Rett Syndrome Treatment
Neurodevelopmental disorders like Rett syndrome are complex. mGlu7 is just one piece of the puzzle and mGlu5 may be another piece of that puzzle.

Symptoms and Signs of Rett Syndrome

Growth delay: microcephaly (small head circumference), and delay in growth of other body parts.
Loss of normal movement and coordination: reduced hand control and ability to walk or crawl normally.
Loss of communication skills: loss of ability to communicate verbally or nonverbally and make eye contact.
Abnormal hand and eye movements: repetitive and purposeless hand movements including squeezing, clapping or rubbing. Unusual eye movements including staring, blinking, or crossed eyes.
Development of seizures.
Scoliosis: abnormal curvature of the spine.

Understanding the underpinnings of Neuropsycyhiatric Disorders
Duplications or deletions of DNA along 22nd chromosome hint at biological underpinnings of neuropsychiatric disorders.

Cause of Rett Syndrome

Rett syndrome is caused due to spontaneous mutations or alterations in the DNA. Mutations on the MECP2 gene is responsible for the manifestation of Rett syndrome. While in most cases Rett syndrome resulting mutations occur randomly in-utero, in few cases this genetic disorder is inherited from parents to children.

The mutation on MECP2 gene results in problem with production of a protein that is crucial for brain development. However, the exact mechanism of the disease is not well understood.

Amyotrophic Lateral Sclerosis (ALS)-Lou Gehrig's disease: Symptoms, Diagnosis, Treatment
Find out more about the degenerative disease- Amyotrophic lateral sclerosis.

What is the Difference in the Effect of Rett on Males and Females?

While Rett syndrome is generally observed in females, there are few rare cases of males living with Rett. The mutation responsible for Rett is on a sex chromosome called the X chromosome. Females have two X chromosomes and males have one.

In females with Rett, one of their X chromosomes have the mutation while the other is normal and functioning. Since some amount of protein is being produced by the normal X chromosome, the disease is not lethal.

However, in males with Rett, the only X chromosome that they have is mutated resulting in no production of protein. This results in the death of the male baby.

What can we do?

There are a number of ways we can support individuals who live with Rett syndrome.

Read, learn and understand their condition in order to empathize with them.
Spread the knowledge by organizing talks, street plays, and by visiting affected individuals.
Create posters, paintings, and crafts that depict Rett syndrome.
Volunteer with NGOs and organizations that work in support of Rett syndrome.

References:

Rett syndrome - (https://ghr.nlm.nih.gov/condition/rett-syndrome#inheritance)
Rett Syndrome Causes - (http://www.mayoclinic.org/diseases-conditions/rett-syndrome/basics/causes/con-20028086)

Source-Medindia