Rett Syndrome – What parents need to know?
What is Rett Syndrome?
Rett syndrome is a rare neurological disorder that occurs in 1 in 10,000 female births and is very rare in males. The syndrome is named after Dr. Andreas Rett, an Austrian pediatrician who first noted it in two female patients in 1954. It is caused by mutation in a gene called MECP2 which is located on the X chromosome, which explains why it usually affects girls.
Rett syndrome leads to severe impairment and affects nearly every aspect of life. Individuals with Rett develop normally for their first 6 to 18 months, but then begin to miss developmental milestones or lose abilities they had gained, such as their ability to speak, walk, eat, and even breathe. In particular, Rett syndrome affects speech, purposeful hand use, and coordination, leaving individuals trapped in their own bodies, understanding more than they can communicate. It can manifest a lifetime of additional issues, including:
- Repetitive hand movements while awake
- Breathing difficulties
- Cardiac issues
- Swallowing and digestive issues
Rett syndrome is not a degenerative disorder and patients can live into middle age and beyond. The course of disease can be divided into the following stages:
- Stage I, Stagnation: 6 months to 1.5 years
- Stage II, Rapid regression: 1 to 4 years
- Stage III, Plateau period: Preschool to adulthood
- Stage IV, Motor deterioration: Upon loss of ambulation
Rett Syndrome Diagnosis
A diagnosis of Ret syndrome requires fulfillment of the following criteria:
- Partial or complete loss of acquired purposeful hand skills
- Partial or complete loss of acquired spoken language
- Impaired or absence of ability to walk
- Habitual and uncontrollable hand movements such as washing, squeezing, rubbing, mouthing etc.
A blood test can confirm the presence of a MECP2 mutation.
Life with Rett Syndrome
The extent of disability varies from patient to patient, and is difficult to predict. For example, many children are able to walk, while others show significant delay or may never walk. Impaired motor function is the most debilitating aspect of Rett. It can extend to all types of movement, including hand use, eye gaze and speech. Due to this, daily assistance is required for feeding, bathing, dressing and toilet needs. The child may need to be lifted and carried, and repositioned to provide comfort.
Abnormal breathing patterns that includes hyperventilating and breath holding are also commonly observed. These patterns become less noticeable with age, and are not believed to cause permanent damage.
Chronic constipation occurs frequently and is caused by several factors such as lack of physical exercise, diet, poor muscle tone, medications etc. It is important to manage constipation by preventing it, or treating it aggressively since it can be a source of serious discomfort and irritability.
Finding ways to communicate can be very challenging, since most patients do not develop functional verbal skills and hand control. In most cases families need to learn use of augmentative devices that utilize alternative inputs, such as through eyes, to help with communication. Patients with Rett express a full range of emotions, and providing them with AAC devices as early as possible can facilitate engagement with their family and community.
There is no treatment currently available for Rett syndrome.
In September 2022, the US Food and Drug Administration agency (FDA) accepted a New Drug Application (NDA) for a drug named Trofinetide. If approved on the action date in March 2023, this drug compound will be the first FDA-approved treatment for Rett syndrome.
In addition, more than 20 pharmaceutical companies are working on potential treatments for Rett, including gene therapy approaches. Online Speech Therapy is simple, convenient and highly effective at the same time. When we started online speech therapy, there was no formal training available for becoming an online speech therapist in India. Trainings provided by speech therapists are great but can be expensive and not always suited for Indian clientele. As a result we created our inhouse teletherapy training programme at 1SpecialPlace.
Rett syndrome is an area of active research around the globe. Non-profit organizations such as the International Rett Syndrome Foundation and Rett Syndrome Research Trust continue to invest heavily in basic, translational and clinical research to help find potential treatments and therapies for Rett.
This blog has been written by Dr. Nupur Garg, Research Director at IRSF
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