Every year, 1 in 10,000 female births worldwide is affected by Rett syndrome (RTT). This is a rare genetic neurological and developmental disorder that severely impacts brain development, leading to challenges in intellect, mobility, and speech. While boys can very rarely be affected, the vast majority of cases occur in girls.
Knowing the challenges faced by individuals with Rett syndrome is essential for providing the necessary support. We’re here to help you understand this condition and access appropriate domiciliary care or other treatment options available.
What Causes Rett Syndrome?
Rett syndrome (RTT) typically develops in babies after an uncomplicated pregnancy and delivery. Most infants show signs and symptoms of RTT within their first 6 to 18 months of life.
Scientifically, Rett syndrome is caused by a genetic alteration (called a mutation) in the MECP2 gene, disrupting the normal function of a child’s neurons and other brain cells. In most cases, the genetic change occurs spontaneously and is not inherited.
What is MECP2?
In our brains, the MECP2 protein is crucial for the function of various cell types, including nerve cells (neurons). This protein maintains connections (synapses) between neurons, where cell-to-cell communication takes place.
How Rett Syndrome Is Diagnosed
Doctors diagnose Rett syndrome by closely monitoring a child’s early growth and development. A small blood sample is collected to confirm the diagnosis through genetic testing. This sample is analysed in a laboratory to identify any mutations in the MECP2 gene.
Once the doctor sees and confirms symptoms of RTT, they conduct ongoing evaluations to check the child’s physical and neurological condition.
A definitive diagnosis of Rett syndrome requires confirmation by a healthcare professional (paediatric neurologist, clinical geneticist, or developmental paediatrician).
Signs and Symptoms of Rett Syndrome
To diagnose Rett Syndrome, doctors usually need to see the following signs and symptoms.
Slowed or Delayed Growth
A child’s brain growth slows after birth. A smaller-than-usual head size, called microcephaly, is the first sign of Rett syndrome. As the child grows, you will also see delayed growth in other body parts.
Loss of Coordination and Motor Skills
The ability to crawl, walk or even use hands is affected when a child has Rett syndrome, weakening the muscles with unusual movements and positions.
Speech and Communication Disabilities
Losing the ability to speak and maintain eye contact is also common in Rett syndrome, making a child disinterested in other kids, toys, and activities.
Excessive Hand Movements
A child may not be able to control her hands and may develop repetitive, purposeless hand movements such as hand-wringing, squeezing, clapping, tapping, or rubbing.
Other Symptoms
Other RTT symptoms in children include breathing difficulties, teeth clenching, cold hands and feet, intense eye communication, impaired sleep, and a curved spine (Scoliosis).
Remember, every child is unique. We’re here to support you in understanding and overcoming these challenges.
How Rett Syndrome Progresses
Stage 1: Early Onset
This stage begins between 6 and 18 months after birth. Early signs are often subtle and may be overlooked. Children might show less interest in toys, have reduced eye contact and experience delays in reaching milestones like sitting or crawling.
Stage 2: Rapid Deterioration
Between 1 and 4 years of age, a child can’t speak or socialise. This can last for weeks or months. At this stage, you may see symptoms including slowed head growth, abnormal hand movements, hyperventilation, coordination problems, and prolonged crying or screaming without a reason.
Stage 3: Plateau
Starting between ages 2 and 10, this stage can last for many years. Although problems with motor skills last, behaviour may slightly improve. Children may cry less than before and improve hand control. While seizures don’t occur before age 2, kids start having seizures in this stage.
Stage 4: Late Motor Deterioration
This stage begins after age 10 and can last for years or even decades. A child experiences reduced motor skills due to weakened muscles and joints. Although comprehension, communication, and hand skills generally stay stable or improve slightly, seizures still occur but become less frequent.
Is Rett Syndrome Curable?
While there isn’t a cure for Rett syndrome yet, there’s ongoing research into advanced treatments and potential cures. In the meantime, effective management strategies, including Rett Disorder home care and therapy, can help slow the progression of movement loss.
Effective therapies include:
- Physiotherapy to prevent a child’s joint deformities and improve movement.
- Occupational therapy to enhance a child’s motor control
- Speech therapy to improve a child’s speech
These disability services provide valuable support and can improve the quality of life of a child with Rett Syndrome.
How We Can Help You with Rett Syndrome
At Beacon Support, we understand the unique challenges that come with managing Rett syndrome. We’re here to provide the specialised care and support your child needs.
Together, let’s make a meaningful difference in a child’s life and help them live normally.
To learn more about our personalised care plans and services, please contact us.
