Rett Syndrome: Meaning, Causes, Symptoms, Treatment

Written by Medicover Team and Medically Reviewed by Dr Seepana Rajesh , pediatrician

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Rett syndrome is a rare genetic neurological disorder that primarily affects girls and leads to severe problems with brain development. It impacts speech, movements, coordination and growth. Children with Rett syndrome may develop normally for the first 6 to 18 months but then gradually lose previously acquired skills like walking, speaking and purposeful hand movements.

Rett syndrome is rare and has lifelong effects and requires long-term care. Early diagnosis, supportive therapies and treatments can help manage symptoms and improve the health condition of children.

Different Types of Rett Syndrome

Rett syndrome does not look the same in every child. Doctors have identified different types of the condition, which are based on age and the severity of symptoms. Here are some common signs that you can experience:

• Classic Rett Syndrome: This is the most common and well-known type. Children develop normally for the first 6 to 18 months and then gradually lose skills such as speech, purposeful hand movements and walking.
• Atypical Rett Syndrome: In this type, Children may experience milder or more severe symptoms than the classic type. Some children may retain some skills, while others may experience faster regression.
• Congenital Rett Syndrome: In this type, the symptoms start appearing from birth or the first few months of life. Infants show poor muscle tone, feeding difficulties and severe developmental delays from the beginning.
• Late-Onset Rett Syndrome: A rare type where children seem to develop normally for a longer time and symptoms such as loss of speech or hand movements begin later in early childhood.

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Rett Syndrome Symptoms

Rett syndrome usually begins with a period of normal growth and development, followed by a phase of regression where skills gradually disappear. Symptoms typically appear between 6 months and 2 years of age and may slowly progress over time.

• Loss of hand function or purposeful hand use is replaced by repetitive movements like wringing, tapping or clapping.
• Speech problems, where children slowly lose the ability to speak or communicate effectively.
• Movement can become problematic too with unsteady walking and coordination issues or in severe cases, they lose their ability to walk.
• Breathing abnormalities like frequent episodes of breath-holding, rapid breathing or irregular breathing patterns.
• Seizures: Many children with Rett syndrome may develop epilepsy, which causes seizures as part of the condition.
• Head growth delay like Slowed or reduced head growth, which is also known as microcephaly.
• Behavioural changes such as Irritability, social withdrawal or lack of interest in their surroundings are also prevalent.
• Cognitive delays like Intellectual disability and developmental delays become noticeable with age.

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Causes of Rett Syndrome

Rett syndrome is mainly caused by a mutation in the MECP2 gene located on the X chromosome. This gene's role is very important for brain development, nerve cell function and communication between brain cells. When the gene is faulty, the brain cannot develop or function normally, which causes the development of Rett syndrome.

Genetic Mutation

Most cases occur because of a spontaneous (new) mutation rather than one that is inherited. This means the condition usually develops randomly during conception.

Rett Syndrome Inheritance

Rett syndrome can sometimes be passed from mother to child through the X chromosome but it is very rare.

Why Girls Are More Affected by Rett syndrome?

Girls are more affected by Rett syndrome because girls have two X chromosomes, a mutation in one copy of the MECP2 gene may still allow survival though with significant symptoms. On the other hand, boys have only one X chromosome and in most cases, the mutation is so severe that they do not survive infancy.

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Effects of Rett Syndrome on Children

Rett syndrome impacts nearly every area of a child's life, from movement and communication to emotional well-being and independence. The effects progress as the child grows and may vary in severity.

• Physical Disability: Children may gradually lose the ability to walk, use their hands effectively or control their body movements, which causes lifelong physical challenges.
• Communication Barriers: The loss of speech and limited nonverbal communication can make it hard for children to express their needs and emotions.
• Feeding Challenges: Many children experience difficulties with swallowing, which can lead to poor nutrition and the necessity for special feeding techniques.
• Seizures and Breathing Problems: Children with Rett syndrome often experience epileptic seizures and irregular breathing patterns are common and may require long-term management.
• Behavioural Concerns: As these children lose previously acquired skills, they might struggle with anxiety, frustration and social withdrawal.
• Total Dependence: Over time, most children with Rett syndrome depend heavily on caregivers for mobility, feeding, daily care and emotional support.

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What are the Complications of Rett Syndrome?

As Rett syndrome progresses, it can cause several medical complications that require continuous monitoring and treatment.

• Scoliosis: Many children develop curvature of the spine, which may worsen with age and require physical therapy or surgery.
• Weak Bones: Limited mobility can cause brittle bones and increase the risk of fractures.
• Heart Rhythm Problems: Irregular heartbeats are a serious complication and may increase the risk of sudden death in some cases.
• Nutritional Issues: Feeding difficulties and swallowing problems often make it hard to maintain a healthy weight.
• Respiratory Infections: Breathing irregularities can increase vulnerability to chest infections and other respiratory problems.

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When to See a Doctor

Parents should consult a doctor if their child shows:

• Delayed development of children after 6 months.
• Loss of speech or hand skills previously acquired.
• Sudden abnormal repetitive hand movements.
• Difficulty walking or loss of mobility.
• Breathing irregularities or frequent seizures.

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Diagnosis of Rett Syndrome

Diagnosing Rett syndrome can be challenging because children appear to develop normally during the first few months of life. There is no single test that can immediately confirm the condition. Here are some effective methods that doctors use to diagnose rett syndrome:

• Developmental History: Parents are usually asked about the child's growth and whether they noticed any loss of skills such as speech, hand movements or walking after a period of normal development.
• Physical and Neurological Examination: Doctors look for repetitive hand movements, abnormal gait, slowed head growth and breathing irregularities.
• Rett Syndrome Diagnostic Criteria: These include regression after normal development, loss of purposeful hand function, communication difficulties, repetitive movements and intellectual impairment.
• Genetic Testing: A blood test is done to look for mutations in the MECP2 gene, which confirms the diagnosis in most cases.
• Excluding Other Conditions: Since symptoms may overlap with autism, cerebral palsy or other developmental disorders, doctors perform additional tests to find out similar conditions.

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Management and Treatment of Rett Syndrome

Rett syndrome treatments focus on managing symptoms, improving mobility and supporting communication. Doctors use several therapies, medications and family support to help children achieve the best possible results.

1. Medications

• Anti-seizure medicines to control epilepsy, which is common in children with Rett syndrome.
• Medicines for breathing problems such as irregular breathing or hyperventilation.
• Behavioural and sleep medicines to reduce anxiety, improve sleep quality and manage agitation.

2. Rett Syndrome Therapies

• Speech Therapy to help children communicate using signs, gestures or assistive devices, since verbal speech is often limited.
• Physical Therapy focuses on improving posture, muscle strength and walking ability to maintain mobility as long as possible.
• Occupational Therapy supports daily living activities and provides adaptive equipment to increase independence.
• Breathing Therapy teaches techniques that may help regulate breathing patterns and reduce complications.

3. Nutrition and Lifestyle

• A high-calorie diet is helpful for maintaining a healthy weight since many children struggle with feeding difficulties.
• Special feeding techniques or devices for children with swallowing problems.
• Regular exercise and activity to strengthen muscles, prevent stiffness and improve circulation.

4. Family and Supportive Care

• Counselling and guidance for parents is required to help with the emotional and physical challenges of caring for a child with Rett syndrome.
• Support groups and community resources to connect families with others facing similar challenges.
• Special education programs that focus on individualised learning and developmental growth.

Rett Syndrome Life Expectancy

In the past, children with Rett syndrome were not expected to live long, but advances in healthcare have significantly improved outcomes. Today, many children with Rett syndrome live into middle or even late adulthood. Factors that influence life expectancy include:

• Heart rhythm abnormalities are one of the most serious complications and a major risk factor.
• Respiratory problems like frequent lung infections and breathing irregularities may affect survival.
• Mobility issues like children who retain some ability to walk often have better long-term health.
• Quality of care such as access to therapies, nutritional support and regular monitoring improves prognosis.

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Conclusion

Rett syndrome is a complex neurological disorder that affects development, movement and communication. There is no permanent cure for this syndrome but early diagnosis, supportive therapies and continuous care can greatly improve children's lives. Families and caregivers' roles are crucial in providing long-term support and helping children reach their full potential.

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