What Is Rett Syndrome, A Disorder Highly Found In Females? Causes, Symptoms And Treatments

Causes Of Rett Syndrome

Rett syndrome is known to have been caused by mutations in the gene MeCP2 which is found in the X chromosome (one of the two sex chromosomes).

Males have one X chromosome and one Y chromosome while females have both X chromosomes. As the mutation happens only in the X chromosome, the females naturally become more prone to getting affected by this disorder compared to males.

Also, MeCP2 mutation is likely to occur in the sperm cells than in ovarian cells, meaning the risk of inheriting the RTT gene is greater from the father's side. [3]

The MeCP2 gene contains instructions to manufacture proteins that help with the development of the brain. This is why, when a mutation in the MeCP2 gene happens, the brain functions are affected.

According to the National Institute of Neurological Disorders and Stroke, not everyone with mutations in the MeCP2 gene has RTT and in less than one per cent of the cases, the disorder is inherited, meaning the disorder is unlikely to pass from one generation to another and in most of the cases, appear spontaneously due to random mutation.

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Stages And Symptoms Of Rett Syndrome

The symptoms of Rett Syndrome depend on its four clinical stages. They are:

1. Stagnation (Stage 1): It occurs between the age of 6-18 months. The symptoms noticed are: [4]

• Sudden changes in the interactive behaviours of the child such as lesser eye contact and reduced interest in toys.
• Developmental delays such as inability in crawling, vocalisation or sitting.
• Decreased muscle tone that causes problems in movement.
• Microcephaly or pause in the development of baby's head making it look smaller than babies of the same age.
• Frequent crying

2. Rapid Developmental Regression Period (Stage 2): It occurs between the ages 1-4 years and is characterised as: [5]

• Sudden regression of abilities that are acquired.
• High-pitched crying
• Unexplained fever
• Complete change in the personality of the child due to decline in motor and communicative abilities.
• Loss of visual contact of a child to their parents.
• Recurrent infections.
• Febrile seizures
• Unexplained hypersalivation or muscle twitching around the mouth.
• Breathing irregularities.

3. The Pseudo-Stationary Stage (Stage 3): It usually occurs between the ages 2-10 years and starts after the completion of the regression stage. The symptoms include:

• Continuous movements such as hand clapping or hand wringing.
• Return of visual contact of the child to express needs and wishes.
• Breathing difficulties
• Unexplained night laughing.
• Nighttime awakening and daytime sleeping habits.
• Sudden agitation.
• A sensation of cold in the feet or lower limbs.
• Deformation of the ankles.

Note: In this stage, a child can still new things and if walking is already acquired by the child, they may be able to do so. A child with RTT also has increased alertness and eye behaviours.

4. Late Motor Deterioration (Stage 4): It occurs after the age of 10 and can last for many years or decades. Symptoms include:

• When this stage starts, the walking of the child is affected and they may become wheelchair-dependent.
• Some may never learn to walk.
• Severe neurological impairment.
• Feet and lower limbs are cold with discolouration.
• Hand activities frequent clapping gets less.
• Lack of motor abilities leads to frozen rigidity.
• Visual contact remains intact.

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Complications Of Rett Syndrome

Some of the complications of Rett syndrome may include:

• The inability of the child to express themselves.
• Metabolic complications such as high cholesterol levels. [6]
• Gastrointestinal problems
• Problems related to the functioning of the bones and muscles.
• Mental health problems due to lack of social life.
• Short life span due to multiple disorders following Rett syndrome.

Diagnosis Of Rett Syndrome

Rett syndrome is usually diagnosed by analysing the aforementioned symptoms present in the child during their growth and development. However, there are criteria that need to be fulfilled for the exact diagnosis of the condition. [7]

In some cases, a child may present RTT-like symptoms but does not meet the diagnosis criteria. This is categorised as atypical RTT, in which gene mutation is present but exact symptoms lack.

Genetic testing helps identify the presence of the MeCP2 gene.

Treatments Of Rett Syndrome

• Studies say that there is no exact cure for Rett syndrome and most of the treatment methods for the condition include management of the symptoms such as seizure control and nutrition and supportive approach.
• Medications to prevent complications related to lung and gastrointestinal functions is given and regular monitoring is suggested, at least until the child gets younger.
• Surgery is suggested in case the child develops walking problems or scoliosis (sideways curvature of the spine instead of straight).
• Special attention is given to treating seizures with anti-seizure medications.
• Patient-specific programs to improve communication and movement.

To Conclude

Early diagnosis and management of Rett syndrome can help improve the health and longevity of children suffering from it.