Rett Syndrome – Symptoms and Causes
Overview
Rett syndrome affects brain development. It causes progressive loss of motor skills and speech, primarily in females. Most children seem to develop normally for the first six months before losing previously acquired abilities like crawling, walking, and hand use.
As Rett syndrome progresses, individuals experience:
- Declining muscle control and coordination
- Communication difficulties
- Potential seizures
- Intellectual disabilities
- Repetitive hand movements (like rubbing or clapping)
While there is no cure currently available, researchers are actively investigating potential treatments. Current management approaches focus on:
| Treatment Area | Examples |
|---|---|
| Movement | Physical therapy, assistive devices |
| Communication | Speech therapy, communication boards |
| Seizure control | Anti-seizure medications |
| Support services | Family counseling, educational assistance |
Early intervention with a team of specialists can help improve quality of life for those with Rett syndrome.
Signs and Symptoms
People with Rett syndrome often have normal birth and early development. Most babies appear to grow and act typically for about six months. Then symptoms begin to show.
The most noticeable changes happen between 12 and 18 months of age. These changes can appear quickly over weeks or months. Each person has different symptoms with varying levels of severity.
Main signs include slower growth, loss of movement skills, reduced communication, and unusual hand movements. Other problems can affect breathing, mood, behavior, thinking, and heart function.
How Rett Syndrome Progresses
Rett syndrome typically develops in four main phases:
Phase 1: Beginning Signs (6-18 months)
- Subtle changes that parents might miss
- Less eye contact with others
- Declining interest in toys and play
- Delays in sitting or crawling skills
- Can last several months to a year
Phase 2: Skill Loss (1-4 Years)
- Rapid or gradual loss of previously gained abilities
- Head growth slows down
- Repetitive hand movements begin (wringing, clapping, tapping)
- Breathing problems like hyperventilation start
- Unexplained crying or screaming episodes
- Movement and coordination worsen
- Communication and social skills decline
Phase 3: Steady Period (2-10 Years)
- Can last many years
- Movement difficulties continue
- Behavior may improve slightly
- Less irritability and crying
- Slight improvements in hand use possible
- Better communication skills may develop
- Seizures often begin during this phase
- Seizures rarely start before age 2
Phase 4: Physical Decline (After Age 10)
- Reduced mobility becomes more severe
- Muscles weaken
- Joints become stiff
- Spine curves (scoliosis) often worsens
- Understanding and communication remain stable or improve slightly
- Hand skills may stay the same or improve a little
- Seizures might happen less often
Other important symptoms include:
Growth Issues: Brain growth slows after birth, leading to a smaller head size. Other body parts may also grow more slowly.
Movement Problems: Children gradually lose the ability to crawl, walk, and use their hands purposefully. Muscles may become weak or stiff.
Hand Movements: Repetitive, purposeless hand movements are common, such as wringing, squeezing, clapping, or rubbing.
Eye Abnormalities: Intense staring, frequent blinking, crossed eyes, or closing one eye at a time.
Breathing Issues: Problems include holding breath, breathing too quickly, forcefully blowing out air, or swallowing air while awake. During sleep, shallow breathing or brief pauses in breathing can occur.
Mood Changes: Increasing irritability, sudden crying or screaming without clear causes that may last for hours.
Unusual Behaviors: Odd facial expressions, unexpected laughter, licking hands, or grabbing at hair or clothes.
Thinking Difficulties: Loss of cognitive abilities affects learning and understanding.
Spine Problems: Scoliosis typically begins between ages 8-11 and gets worse over time. Some cases require surgery.
Heart Rhythm Problems: Irregular heartbeats can be life-threatening and may cause sudden death in some cases.
Sleep Disturbances: Irregular sleep patterns, daytime sleeping, nighttime wakefulness, or waking with crying or screaming.
Additional Issues: Reduced pain response, cold and small hands and feet, difficulty chewing and swallowing, bowel problems, and teeth grinding.
When to See a Doctor
If you notice changes in your child’s development after a period of normal growth, it’s important to seek medical help promptly. Contact your doctor if you observe:
- Slower head or body growth than expected
- Reduced coordination or movement abilities
- Repeated hand movements like wringing or clapping
- Less eye contact or sudden lack of interest in toys
- Speech delays or loss of words they could say before
- Loss of skills or abilities they previously mastered
Don’t wait to see if problems resolve on their own. Prompt medical attention can help with proper diagnosis and support for your child.
Causes
Rett syndrome originates from rare genetic mutations that typically occur spontaneously rather than through inheritance. These mutations primarily affect the MECP2 gene, which plays a crucial role in protein production essential for proper brain development.
Scientists continue to research the exact mechanisms behind how these genetic changes lead to the characteristic symptoms of Rett syndrome.
The condition appears in classic form as well as several atypical variants that may present with milder or more severe symptoms depending on the specific genetic mutation involved.
Males with Rett Syndrome
The impact of Rett syndrome differs significantly between genders due to chromosomal differences. Most males who develop the typical MECP2 mutations that cause Rett syndrome experience devastating effects. Their condition is usually fatal before birth or during early infancy.
A small subset of males carry different genetic variations that result in a less severe form of the disorder. These individuals may:
- Survive into adulthood
- Experience intellectual challenges
- Face developmental difficulties
- Require ongoing support
Unlike the more lethal form, these genetic variations allow for longer survival, though affected males still encounter significant health and developmental challenges throughout their lives.
Risk Factors
Rett syndrome is an uncommon condition that typically occurs randomly. Research hasn’t found specific risk factors that increase the chance of developing this disorder. The genetic mutations that cause Rett syndrome usually happen on their own, without any clear trigger.
In rare situations, family history might play a small role. Having relatives with Rett syndrome could slightly increase risk, but this is very uncommon.
Health Problems
People with Rett syndrome often face several health issues. These include:
- Sleep issues that disrupt rest for both the person and their family.
- Eating challenges that can lead to poor nutrition and growth delays.
- Digestive and bladder problems like constipation, acid reflux, incontinence, and gallbladder issues.
- Pain related to stomach problems or broken bones.
- Physical limitations affecting muscles, bones, and joints.
Anxiety and behavioral difficulties can make social interactions harder. People with Rett syndrome typically need lifelong care and help with daily activities.
The condition may also impact life expectancy. While most individuals live into adulthood, they might have shorter lives than average due to heart problems and other complications.
Preventing Rett Syndrome
There is currently no known way to prevent Rett syndrome. Most cases happen because of random genetic changes that occur on their own. These changes are not typically passed down from parents.
If someone in your family has Rett syndrome, consider speaking with a healthcare provider about genetic testing and genetic counseling. These services can help families understand the condition better and make informed decisions about future pregnancies.
