Rett Syndrome

By
Rett syndrome is a genetic disorder that causes speech and motor skill loss, as well as behavioural and neurological issues. Other medical issues that children with Rett syndrome may face include intestinal, breathing, orthopaedic, and heart complications.

During the first 6 to 18 months of life, children with Rett syndrome often have normal development. They may lose speech and other developmental milestones after this period of regression (loss of skills). The symptoms can be mild to severe. Almost all Rett syndrome children are female.

A mutation (a change in the DNA) in the MECP2 gene, which is found on the X chromosome (one of the sex chromosomes), causes almost all cases of Rett syndrome. The MECP2 gene encodes instructions for the production of a specific protein (MeCP2) required for brain development. The gene mutation prevents nerve cells in the brain from functioning normally.

There is usually no family history of Rett syndrome, indicating that it is not passed down from generation to generation. Almost all cases (over 99%) are accidental, with the mutation occurring at random.

Diagnosis

Although some people with Rett syndrome may retain some hand control, walking ability, and communication skills, the majority will require 24-hour care for the rest of their lives. Many Rett syndrome patients reach adulthood, and those who are less severely affected can live into old age. However, some people die at a young age as a result of complications such as abnormal heart rhythms, pneumonia, and epilepsy.

The following are key characteristics of a Rett syndrome diagnosis:

  • Loss of normal hand use
  • Loss of spoken language
  • Trouble walking
  • Abnormal hand movements such as hand wringing or clapping

A child's symptoms of Rett syndrome may not be consistent, and they may change as they grow older.

vectors by Freepick; graphic design by Vadot

Stages

Rett syndrome is divided into four stages, though symptoms frequently overlap. The following are the main characteristics of each stage:

Stage 1: Early signs
For the first 6 months, the child appears to develop and grow normally. There may be subtle signs of Rett syndrome before the child is diagnosed (especially in retrospect).

Stage 2: Regression
The child begins to lose some of their abilities during stage 2, also known as "regression" or the "rapid destructive stage." This stage typically begins between the ages of one and four and can last anywhere from two months to more than two years.

Stage 3: Plateau
Rett syndrome stage 3 can begin as early as 2 years old or as late as 10 years. It can last for many years, and many children remain in this stage for the majority of their lives.
Some of the stage 2 symptoms may improve during stage 3 - for example, there may be improvements in behaviour, with less irritability and crying.

Stage 4: Deterioration in movement
Stage 4 can last for many years, if not decades. Communication, language skills, and brain function do not deteriorate during stage 4. Repetitive hand movements may be reduced, and eye gaze may improve.
Seizures are also less of a problem during adolescence and early adulthood, though they are frequently a lifelong issue to manage.

Reference:

NHS Choices. (2023). Rett syndrome. https://www.nhs.uk/conditions/rett-syndrome/ ‌IDD ASD:Rett syndrome. (2019). IDD ASD:Rett syndrome. Google Docs. https://docs.google.com/document/d/14nx5q-w3Fmg5qOWxh7GiwHa941JL5JceSpD-ZOSmHkg/edit

Comments

Post a Comment

Popular posts from this blog

Lower Motor Neuron Syndrome

By
Image
A rare genetic motor neuron disease characterized by slowly progressive, predominantly proximal muscular weakness and atrophy At the onset, symptoms include muscle cramps, fasciculations, decreased or absent deep tendon reflexes, hand tremor, and elevated serum creatine kinase, is later associated with reduced walking ability and impaired vibration sensation. Lower motor neuron (LMN) syndromes cause muscle wasting and weakness and can be caused by pathology affecting the distal motor nerve up to the anterior horn cell. Introduction Damage to the cell bodies or peripheral axons of lower motor neurons results in paralysis (loss of movement) or paresis (weakness) of the affected muscles. Aside from paralysis and/or paresis, the lower motor neuron syndrome includes a loss of reflexes (areflexia) caused by an interruption of the efferent (motor) limb of the sensory motor reflex arcs. Muscle tone is lost when lower motor neurons are damaged because
Read more

Dysmetria

By
Image
A physical movement's ability to be controlled in terms of speed, distance, or range is referred to as dysmetria. Dysmetria can cause people to overshoot or undershoot their movements. Additionally, they might have trouble keeping their balance or coordinating their speech and eye movements. A person with dysmetria has trouble controlling their range of motion, as well as their movement's distance and speed. Dysmetria can be brought on by traumatic brain injury, stroke, brain tumors, and a variety of other conditions. Causes When the cerebellum, a region of the central nervous system that integrates visual, spatial, and other sensory inputs with motor control to coordinate and plan movement as well as maintain balance, is damaged, dysmetria is a usual outcome. Damage to the cerebellum or to the nerves that carry sensory information to it can make it difficult to determine when and where movements should stop; this difficulty is referred to as undershooting or
Read more

Intellectual Disability Introduction

By
Image
Intellectual disability is identified by problems in both intellectual and adaptive functioning. Intellectual functioning is measured with individually administered and psychometrically valid, comprehensive, culturally appropriate, psychometrically sound tests of intelligence.While a specific full-scale IQ test score is no longer required for diagnosis, standardised testing is used in the process. A full-scale IQ score of 70 to 75 indicates significant intellectual functioning limitations. However, the IQ score must be interpreted in light of the individual's difficulties with general mental abilities. Furthermore, subtest scores can vary significantly, so the full-scale IQ score may not accurately reflect overall intellectual functioning. As a result, clinical judgement is required when interpreting IQ test results. Problems with general mental abilities cause intellectual disability, which affects functioning in two areas: Learning, problem solving, and j
Read more

About Us