Rett Syndrome is a brain disorder that mainly impacts girls, causing significant mental and physical impairments. The syndrome originates from a particular gene mutation and is present from birth, although its signs usually manifest between 6 and 18 months of age. These indications disrupt vital activities like speaking, walking, eating, and breathing. Managing this intricate condition requires constant and lifelong care and supervision.
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Loss of purposeful hand skills: Individuals often lose the ability to grasp and manipulate objects, indicating a decline in hand coordination and movement, which is one of the earliest signs of the disorder.
Loss of social engagement: Children may show reduced interest in social interaction, withdraw from activities, and struggle with maintaining eye contact, all common signs of Rett Syndrome.
Slowed growth: This manifests as a diminished rate of head growth and overall physical development, leading to delays in growth milestones.
Abnormal hand movements: Individuals exhibit characteristic hand movements like wringing or washing-like motions, which are repetitive and uncontrollable.
Breathing difficulties: Rett Syndrome can cause breathing problems ranging from hyperventilation to breath-holding, impacting daily life significantly.
Seizures: Seizures are frequent and serious in Rett Syndrome, affecting a majority of individuals and requiring specialized medical attention for proper management.
Types of Rett Syndrome
There are several forms of Rett Syndrome:
Classic Rett Syndrome: Characterized by symptoms such as loss of purposeful hand skills and slowed growth, this is the most common form. Early detection and appropriate treatment are crucial for improving care and support.
Atypical Rett Syndrome: Varies in symptoms and severity from the classic form. Onset may occur earlier or later, with personalized treatment plans offering effective care and enhancing quality of life.
Congenital Rett Syndrome: A rarer form with more severe symptoms appearing at birth or infancy. Early intervention, specialized therapies, and continuous support are essential for managing the unique challenges it presents.
When to see a doctor?
If you observe developmental delays, declining motor skills, or any mentioned signs in your child, prompt consultation with a healthcare professional is essential. Early detection and intervention can significantly help manage symptoms and enhance the quality of life for individuals with Rett Syndrome. The condition is primarily caused by sporadic mutations in the MECP2 gene and typically does not result from parental inheritance.
Rett Syndrome Risk Factors
Gender Predominance: Rett Syndrome mainly affects females, with rare cases in boys, highlighting the gender-specific risk for early detection and care.
Family History: Although uncommon, a familial link to Rett Syndrome exists, prompting tailored support from healthcare providers.
Complications
If Rett Syndrome is not managed properly, it can lead to several health issues:
Scoliosis: Spinal bending is common, requiring prompt physical therapy and braces for improved comfort and mobility.
Malnutrition: Feeding difficulties can lead to inadequate nutrient intake, necessitating personalized dietary plans to support overall health.
Breathing Problems: Respiratory challenges like hyperventilation need careful monitoring and treatment to maintain oxygen levels.
Increased Sudden Death Risk: Due to heart and respiratory complications, ongoing medical supervision and preventive care are crucial to minimize this risk.
Diagnosis of Rett Syndrome
Diagnosis of Rett Syndrome involves reviewing the child's medical history, a physical examination, and genetic testing to identify MECP2 gene mutations. While there's no cure, treatment focuses on managing symptoms and may include:
Physical Therapy: Essential for improving mobility and muscle strength through personalized exercises, enhancing everyday tasks.
Occupational Therapy: Aims to promote independence in daily activities by adapting tasks and environments, improving quality of life.
Speech Therapy: Addresses communication challenges with personalized strategies and assistive technologies to enhance expression and social interaction.
Medication: Seizures and breathing issues are managed with specific medications tailored by healthcare professionals for optimal symptom control.
Nutritional Support: Dietitians design specialized meal plans to overcome feeding challenges, ensuring individuals receive essential nutrients for growth and development.
Rett Syndrome Dos and Don'ts
Managing Rett Syndrome requires careful attention to the child's daily needs and potential symptoms.
Do's
Don'ts
Provide a supportive environment
Ignore symptoms without seeking professional help
Maintain good nutrition
Delay diagnosis and treatment
Monitor for any new or worsening symptoms
Assume that the condition will improve without intervention
Work closely with healthcare providers
Overlook the importance of specialized care
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Most cases of Rett Syndrome are not inherited and occur spontaneously. Yet, in uncommon instances, it can be inherited within families.
Is there a cure for Rett Syndrome?
While Rett syndrome still has no cure, the U.S. Food and Drug Administration (FDA) sanctioned a novel drug, Trofinetide, in 2023, aimed at treating Rett syndrome in children two years and older.
At what age do symptoms of Rett Syndrome typically appear?
Symptoms usually begin to appear between 6 to 18 months of age, after a period of seemingly normal development.
Can boys have Rett Syndrome?
While Rett Syndrome primarily affects girls, boys can have it too. However, because they don't have a second X chromosome to compensate for the faulty one, boys with the mutation often have severe symptoms and may not survive infancy.
How common is Rett Syndrome?
Rett Syndrome is believed to impact approximately 1 in 10,000 to 15,000 live female births.
What is the lifespan of someone with Rett syndrome?
The life span of individuals with Rett syndrome varies widely. Many live into adulthood, with improved medical care and management of symptoms, though some may experience complications that can affect life expectancy.
