Rett syndrome is a neurodevelopmental disorder that almost exclusively affects girls. Children with Rett’s syndrome, in the initial stages, tend to show symptoms that are very much similar to early signs of autism. Much like autism, your child shows normal growth and development followed by a gradual (or sudden) regression of their developmental skills. Most children diagnosed with Rett Syndrome will have slower head and brain growth which is often an early indication of the disorder. Seizures are quite common as well.
Rett’s Syndrome is perhaps the rarest among the major types of Autism and perhaps the only one that could be confirmed through medical tests. The support level required for girls with Rett’s syndrome ranges from Level 2 to Level 3. Jump to the end of the post for the various support levels across the Autism Spectrum Disorder.
What this page contains
- 1 A Quick Look @ Rett’s Syndrome
- 2 Causes of Rett Syndrome
- 3 The Stages of Rett Syndrome
- 4 Rett’s Syndrome Therapy and Treatment Options
- 5 Reference: Support Level Classification of Autism Types
A Quick Look @ Rett’s Syndrome
Rett’s Syndrome has no racial or ethnic relationship. It is estimated that only one in every 10,000 female births will produce a female with Rett’s syndrome.
Newborns would be diagnosed with Autism in near future
Of all children diagnosed for ASD will be girls
Of Girls would be diagnosed +ve for Rett’s Syndrome
Causes of Rett Syndrome
Unlike autism (which may only have a genetic predisposition, refer to the article on Is Autism Genetic), Rett’s syndrome is considered a genetic disorder though it is surprising that in most cases, it occurs in families without any prior history of autism. Rett’s is caused when a mutation randomly occurs in a gene. Only one percent of the recorded cases are said to be inherited which means that the rest of the cases are caused due to spontaneous and random mutations.
Rett Syndrome is caused by the mutation of MECP2 gene. This allows for genetic testing prior to birth, thereby reducing the risk of a family having more than one child with Rett’s Syndrome to less than one percent (except for twins).
Rett’s Syndrome – Why Only Girls?
It is important to note that MECP2 gene is a component of the X chromosome. Since girls possess two X chromosomes, this results in higher risk for Rett’s syndrome. Due to the result of this mutation, out of the two X chromosomes that girls have, only one remains active in each cell. This means that girls with Rett’s syndrome only use a portion are missing the functionality of the other X chromosome, hence the impairment. But still, since the other X is fully functional, the core metabolic and neuro-functional requirements are still met and the girl survives.
But the situation is different when it comes to boys. Boys only have one X chromosome, and therefore lack a backup that could compensate for a defective one. Since they lack any form protection from MECP2 mutations and often die shortly after birth. The small and infrequent numbers of boys that do manage to make it usually suffer a far greater degree of intellectual ability.
The Stages of Rett Syndrome
There are four (4) key stages of Rett Syndrome. Prior to the onset of symptoms your child tends to grow and develop normally. Gradually mental and physical symptoms start to appear. Early symptoms may include sensory issues like problems with crawling, walking and eye contact, all of which were initially present, but are now regressing (read at what age is autism usually diagnosed). There is also a loss in use of the hands followed by compulsive hand movements.
Rett’s Syndrome Therapy and Treatment Options
Like many other neurological problems, there is no cure for Rett Syndrome. Treatment is generally tactical and based on the symptoms that appear. Most of the time, the focus is on managing the symptoms, especially the sleep apnea symptoms. There is medication to assist with breathing and seizures.
Here is what Dr. Ronin Steward had to say about Rett’s:
Rett Syndrome is RARE, but for parents of a child with Rett Syndrome there is hope! Despite the difficulties with symptoms, many individuals with Rett syndrome continue to live well into middle age and beyond. Because the disorder is rare, very little is known about long-term prognosis and life expectancy. While there are women in their 40s and 50s with the disorder, currently it is not possible to make reliable estimates about life expectancy beyond age 40.
Children on the autism spectrum have occupational, behavioral, speech and various other therapies available to them. These same therapies are available to children with Rett Syndrome. Physical therapists, who can provide braces for steadier mobility and function, work daily with children with Rett syndrome. Water therapy is highly recommended for girls with Rett Syndrome as it keeps the muscles free and mobile in a controlled manner.
Reference: Support Level Classification of Autism Types
There are primarily 3 Levels of Support for people with ASD. Click on the Support Levels in the table below to know what they mean. Also, you can click on the Autism Types at the header to acquire an understanding of what each type of autism means.