Definition
Rett syndrome is a rare genetic brain and developmental disorder that affects mostly females.
Signs and Symptoms
It is common for a baby with Rett syndrome to develop normally before she reaches six months.
After that, the progressive inability to use skills such as walking, crawling, communicating and using the hands occurs.
Development
- Slow head growth (microcephaly)
- Delayed growth in other parts of the body
- Muscle tone loss that leads to movement or coordination problems. Loss of hand use results in the child developing hand movements such as rubbing hands, clapping, squeezing and tapping
- Odd eye movements such as crossed eyes, intense staring, closing one eye, blinking
- Awkward walking (legs seem stiff)
- Swallowing and chewing problems
- Uncoordinated breathing in the form of rapid breathing, breath-holding, air swallowing or forceful release of air. Fortunately, these do not occur during sleep
- Deterioration of both social and language skills: immediate cessation of talking and inability to make eye contact
Behavior
- Exhibits social anxiety
- Withdrawal from people
- Shows disinterest in toys and surroundings
- Irritability, which may increase over time
- Teeth grinding
Others
- Intellectual disability
- Weakened bones that are susceptible to fractures
- Scoliosis
- Irregular heart beat, which may prove fatal
- Seizures
- Small hands and feet that are usually cold to the touch
Continue reading to learn about the different stages of the disorder
Stages
Stage 1: Early Onset
Symptoms of Rett syndrome are easily missed during the sixth to 18th month of the baby. This period may last for several more months to a year.
However, these symptoms may be evident: the baby engages in less eye contact, may experience common milestone delays in crawling and sitting, and may also show disinterest in toys.
Stage 2: Rapid Destructive Stage
From years one to four, a child either gradually or rapidly begins losing skills she previously had. She also experiences slow head growth, odd hand movements, issues with coordination and movement, hyperventilation, loss of social and communication skills or crying without a reason.
Stage 3: Plateau or Pseudo-stationary
At two to 10 years, expect little improvement for behavioral and movement issues, decreased agitation and crying, and a small bump of improvement in communication skills and use of the hands. Seizures may also be experienced during this stage.
Stage 4: Late Motor Deterioration
Motor deterioration is experienced at 10 years of age, often spanning years and even decades. The child experiences muscle weakness, scoliosis, mobility issues and joint contractures.
Hand and communication skills are stable or slightly improve, while seizures become less frequent.
Continue reading to learn about the disorder's causes, risk factors and complications
Causes
Rett syndrome is usually caused by a mutated gene, particularly on the X chromosome. Researchers have yet to identify the purpose of the gene and how it causes Rett syndrome.
The disorder is genetic though it is rarely inherited. What is more common is that the mutated gene, usually the MECP2, occurs randomly.
In addition, the mutation affects the production for a protein crucial for brain development.
Risk Factors
Being female is the only risk factor known to Rett syndrome. There are instances where having a close family member suffering from Rett syndrome may increase chances of contracting the disorder.
Boys do develop Rett syndrome but they usually die after being born or during early infancy. The disorder is more fatal with males because they only have one X chromosome, while girls have two.
Complications
Those with Rett syndrome:
- Require care for life
- Experience sleep problems
- Have difficulty in eating, resulting in poor nutrition
- Have ongoing issues such as constipation, gastroesophageal reflux disease and gastrointestinal problems
- Experience joint and muscle problems
- Have anxiety
- Have a decreased life span (up to middle age)
Continue reading to know when to call the doctor and how to test and treat the disorder
When to Call the Doctor
During the child's early years when symptoms of Rett syndrome are not as apparent, call your doctor if you notice changes in behavioral and physical development:
- Slow physical growth: head and other parts of the body
- Decrease in mobility or coordination
- Repetitious hand movements
- Reduced eye contact
- Disinterest in playing and toys
- Loss or delay of speech skills
- Loss or delay in fine of gross motor skills
- Mood swings
Tests and Diagnosis
A doctor can usually confirm the syndrome from the careful observation of a child’s behavior and symptoms, as well as confirming the time the symptoms manifest.
Genetic testing can also be ordered to confirm the disorder. Such a test can determine the severity of the disorder as well.
Treatments and Drugs
Unfortunately, there is no cure for Rett syndrome.
However, There are different types of therapy treatments aimed to improve the life of a girl with Rett syndrome:
- Physical therapy for improved mobility, balance, flexibility and coordination
- Speech therapy to address language problems. Non-verbal communication will be taught
- Occupational therapy for improved independence and to allow the performance of daily tasks such as getting dressed and eating
- Nutritional support of well-balanced and high-calorie diet is usually recommended
- Behavioral intervention such as developing proper sleeping habits combat sleeping problems
Certain medications may be prescribed to treat symptoms of Rett syndrome such as seizures.
Continue reading to learn about the prognosis, alternative medicine, prevention and how to cope
Prognosis
Most girls with the syndrome are expected to live until middle age. As for the symptoms, they either are stable or worsen over time.
Unfortunately, those with Rett syndrome are unable to live independently.
Alternative Medicine
• Music therapy
• Water therapy (hydrotherapy)
• Animal-assisted therapy
Coping
Children with Rett syndrome require assistance until their adulthood. This can be stressful for parents, which is why the following are suggested:
- Relieve stress by finding time for yourself daily either doing something you enjoy or talking with a friend or family member.
- Ask for help. No one will think less of you if you ask someone else to care for your child.
- Find support groups either on or offline.
Prevention
There is no known way to prevent the disorder. However, genetic testing is available to determine the chances of a child being afflicted with it.
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Also read: Does my child have Tourette Syndrome?