What is Rett Syndrome ?

Rett syndrome is defined as a rare genetic neurological disorder that affects the way the brain evolves or develops and leads to severe impairments, affecting the child's ability to speak, walk, eat, and even breathe easily. It affects mostly those who are AFABand it rarely affects those who are AMAB. There is no known way to prevent this syndrome. However, it can be managed and treated by different options based on the specific symptoms and disease severity.

Read on to learn more about Rett syndrome symptoms, causes, etc

Overview

Rett syndrome is a rare neurodevelopmental (brain and nerve) disorder. Children mostly seem to develop Rett syndrome typically in their first year of life, tend to lose the ability to use their hands consciously, and other development slows down as they get older.¹ 

Rett syndrome is usually diagnosed in children who are between 6 to 18 months of age. As children with Rett syndrome get older , they begin to have developmental challenges which stop progressing but do not go away throughout their childhood or lose abilities they had gained. Although they can live to middle age or have close to a typical lifespan, they may have challenges throughout their lives.^1,2

Rett syndrome almost exclusively affects those who are AFAB. Rett syndrome occurs worldwide, in a rate of about 1 in every 10,000 AFAB, and is even rarer in those who ABAB. It affects babies of all racial and ethnic groups. It can present with a wide range of developmental delaysranging from mild to severe. The course and severity of Rett syndrome are determined by the location, type, and severity of the mutation or inactivation of the X chromosme.^1,2

Causes of Rett syndrome:

Rett syndrome, as well as several other variants collectively known as  (atypical Rett syndrome) are  rare genetic syndromes, though the exact cause is not fully understood and is still being studied, it occurs becauseseveral specific genetic changes (mutations) usually in the MECP2 gene. Very few cases of Rett syndrome are inherited. The genetic changes appear to cause protein production malfunctionwhich is critical for brain development.^1,3 

Signs and symptoms of Rett syndrome:

The main signs and symptoms include:¹

• Loss of speech: Rett syndrome tend to make children begin to lose the ability to speak, or to make eye contact. They tend to become disinterested in a lot of things and activities like toys and their surroundings. Over time, they may gradually recover and regain the lost skills again
• Loss of movement and coordination abilities: These are one of  the first signs of Rett syndrome. These include decreased ability to crawl or walk, and reduced hand control. In the beginning, this loss of abilities happens rapidly, and then it continues more gradually.However, eventually, it leads to muscles weakness or stiffness, with unusual positioning and movement
• Slowed growth ofhead, feet, and hands: In some cases of Rett syndrome,  the brain growth slows down which results in a smaller head size than the usual head size in infants (microcephaly). Microcephaly or small head size is sometimes the first sign that a child has Rett syndrome. This growth retardation can happen  in other parts of the body as well as affected children get older
• Unusual & Involuntary hand movements. Children with Rett syndrome usually develop repetitive, purposeless hand movements like hand-wringing, clapping,  squeezing, rubbing, or tapping, which differ from child to child

Other signs and symptoms can include:

• Breathing problems
• Irritability and crying
• Sideways curvature of the spine (scoliosis)
• Other unusual behaviors like sudden, odd facial expressions and long bouts of laughter, hand licking, and grasping of hair or clothing
• Intellectual disabilities
• Seizures or Rett “episodes” 
• Sleep disturbances
• Irregular heartbeat
• Unusual eye movements

Management and treatment of Rett syndrome

Currently,there is no definitive cure for Rett syndrome and all the available treatments are focused mainly on managing the symptoms. These treatments vary based on the specific signs and symptoms. Affected children will likely require care and support from multiple healthcare professionals.³

Children with Rett syndrome may benefit from the following treatment options:

• Medications for mobility and breathing problems, and anti-epileptic drugsto control seizures if present
• Speech and language therapy
• Physiotherapy
• Spinal surgery might be required if scoliosis is present
• Occupational therapy
• Hydrotherapy, music therapy, etc 

FAQs

How is Rett syndrome diagnosed?

Rett syndrome is veryrare and it is usually diagnosed based on the child’s symptoms which does does not appear until the 6th to 18th month of age) plusruling out other common disorders. There is also a genetic blood test that can be used to identifythe genetic mutation in the (MECP2 gene) which is responsible for Rett syndrome.⁴

How can I prevent rett syndrome?

Due to the random nature of this gene mutation that causes Rett syndrome, it cannot be prevented. 

What are the stages of Rett syndrome?

Rett syndrome stages are:

• Stage I:  This stage can be referred to as the preliminarystage. It starts as early as six months of age with a subtle developmental delay including low muscle tone (hypotonia), unusual and repetitive hand movements, difficulty in feeding, etc. this stage often go unnoticed because the symptoms occur gradually⁴
• Stage II: which is  called the rapidly progressive stage or regression stage. It usually occurs between the ages of 1 to 4 years and can last anywhere between  2 months to over than 2 years. Affected children at this stage tend to lose some language and memory skills,other brain functions, and coordination skills. They may constantly wring their hands. Some children also experience autism-like behaviors and lack interest in socializing
• Stage III: This stage is called the plateau or pseudo-stationary stage.It usually occurs between the ages of 2 and 10 years. This stage can last for years. Although  the affected children at this stage may improve(they become interested in people and surroundings again), but they may lose motor function. Seizures and irregular breathing are also common during this stage. Also,there may be some improvements in attention span, communication, and alertness in this stage⁴
• Stage IV: is the late motor deterioration stage which occurs at any time after stage III. Children typically lose the ability to walk, and lose their muscle strength too. Scoliosis may occur. But atthis stage, most affected children can keep their communication and thinking abilities. Seizures, although are often a lifelong problem, are usually less of a problem during teenage and early adult years⁴

How common is Rett syndrome

As stated above, Rett syndrome is a rare neurological disorder that occurs mostly in those who are AFABand rarely in those who are AMAB.

When should I see a doctor?

A doctor should be seen if any of Rett syndrome’s symptoms are suspected. The signs and symptoms of Rett syndrome can be subtle in the early stages. So ensure you pay close attention in case you notice any physical problems or changes in behavior after what appears to be a normal typical development in a child.. 

Summary

Rett syndrome is a rare neurological disorder. There are a lot of children who show few to no symptoms in their first year of life.So always consult your doctor if you notice anything suspicious.  Currentlythere is no defeinitive cure for this syndromet, however, there are ways to manage the different signs and symptoms associated with this syndrome.