There are many types of diseases and syndromes that are diagnosed in (early) childhood. Most of the time pediatric doctors will investigate further when kids start missing developmental milestones. Many syndromes happen due to changes in certain chromosomes that affect the development of a child even from when it was a fetus. One of these syndromes is Rett Syndrome. Rett Syndrome can be explained as a neurological disorder that causes patients to have difficulties in their prospects of life. Most of the patients diagnosed with Rett Syndrome are female and the symptoms can be seen starting between 6 months to 18 months as they start to miss or lose their developmental milestones. Why is it like that? Do boys also get affected by this syndrome? What are the things that may affect the patients of Rett Syndrome and how would therapy help them in their life?
Before we can go further, let’s study more about history. It all started in 1954, a paediatrician named Dr. Andreas Rett from Vienna, Austria observed that two girls were making the same involuntary hand movements. Thus, upon curiosity, he did some research to find that both girls have similar clinical and developmental histories. From the finding, he gathered 6 more girls with the same featured and started to travel around Europe in search of more girls with the same features. He then wrote down his findings and published in medical journals in 1966. In the year 1960, a doctor named Dr. Bengt Hagberg also noticed the similarities of symptoms and wrote an article about it in 1982. He named the syndrome as Rett syndrome, honouring Dr. Andreas Rett who first found out about the disorder. Major findings only happened in 1999 by a researcher from Baylor University, Houston, Texas named Ruthie Amir. She discovered the mutation of X-linked genes of MECP2 causing Rett Syndrome.
As we now know, Rett Syndrome is caused by changes of chromosomes. The X chromosome on the gene called MECP2 has undergone some mutation and is likely to get more than 900 mutations occurring at eight different parts of the genes. This syndrome is a sex-linked disorder as it happens in X chromosomes, the female sex chromosomes. But in rare cases, boys can also be diagnosed with this genetic disorder, but the features are different. It can start shortly after birth with earlier onset of symptoms. Rett Syndrome can be diagnosed by using a blood test to identify the mutation of MECP2 but the child still needs to acquire certain other criteria before the syndrome is confirmed.
Some of the criteria are that the child has partial or complete loss of purposeful hand skills, and has difficulties in speech and gait impairment. Most of Rett Syndrome patient feature repeated uncontrollable hand movement such as hand wringing and hand clapping. They also have breathing problems and muscle weakness and incorrect body posture. Kids with Rett Syndrome also tend to have slow growth development of the head, hand and feet. Other than that, Rett Syndrome patients will have problems with their sleeping patterns and episodes of seizures.
Until now, there is no cure found for Rett Syndrome. Medication can be taken to help manage seizures, muscle stiffness and any problems related to sleep and gut tract. As the clinical appearance mostly affects the child’s growth development, multidisciplinary approaches, therapy and treatment need to be started as early as possible. With continuous therapy, the quality of life for kids with Rett Syndrome will improve and therapy is also essential to prevent any future complications. They have to attend rehabilitation therapy with a Physiotherapist and Occupational Therapist.
In The Play Project, the physiotherapist and occupational therapist are highly experienced in assessing and providing suitable therapy approaches for kids with Rett Syndrome.
The Physiotherapists will focus more on managing the child’s posture and improving muscle strength. The Occupational Therapists will work on suggesting orthosis and addressing sensory issues, creating adaptive equipment to improve quality of life and creating meaningful activities.
It is essential that the correct and safe feeding method is found and implemented for the child and parents are thoroughly instructed to follow up on that at home to prevent hospitalization due to aspiration pneumonia.
Other therapies that have proven to be helpful for kids with Rett Syndrome are behavioural therapy, speech therapy and the help of a dietitian.
As many of the therapies are lifelong needed, most important for the child with Rett Syndrome and their families are support and encouragement. In Malaysia there is a Rett Syndrome association with an active FB page. There is also the international Rett syndrome foundation and lots of information on the internet.
Therapy costs a big amount of money and care. The Play Project Mahavidya works closely together with NGO Civitas. Civitas has a scheme that will sponsor therapy sessions for kids if parents are active in Civitas. Want to know more? Contact us.
Let’s spread awareness to society about this syndrome and to many more rare diseases.
MARINA ABDUL HALIM
(PHYSIOTHERAPIST OF THE PLAY PROJECT SDN.BHD.)