Rett Syndrome is a rare genetic neurological disorder that affects children and often appears in females in the early stages of development. The child begins with normal growth and then gradually begins to lose acquired skills such as speech and use of the hands. She appears repetitive behavior in the hands, with delays in movement and communication, and other health problems. This syndrome is permanently treated within the Well-Being Center of Al-Mousa Health Hospital by qualified doctors with great experience in this specialty. 

What is Rett syndrome?

Rett syndrome is a rare genetic neurological disorder that affects girls most of the time as a result of a mutation in the MECP2 gene located on the

Causes of Rett syndrome

Rett syndrome occurs as a result of a random mutation in the MECP2 gene located on the 

This syndrome often affects females because they have two copies of the

Early signs of Rett syndrome

The early signs of Rett syndrome begin to appear gradually, and often begin several months after the birth of the girl, and then develop clearly during early childhood. Below we mention the most important symptoms at each stage:

During the first year of life

• Weakness in eye communication, as the child does not focus on faces and does not follow eyes as expected, and this often begins after the sixth month.
• Loss of interest in toys, as the child’s response to toys that previously interested her decreases, and this symptom usually appears between the sixth and eighth months.
• Delay in major movements such as sitting and crawling compared to other children. This delay begins to appear between the eighth and tenth months.
• Weak muscle strength, as the girl’s body appears flaccid or less solid. This symptom is observed in the first months.

In early childhood from one to four years old

• Loss of acquired skills, such as a decline in the ability to speak or ceasing to use the hands to play, and this often begins between one and a half and two years.
• Repetitive movements in the hands, such as rubbing or clapping repeatedly, for no apparent reason, usually appear between the ages of two and three years.
• Difficulties in movement and walking, as the child’s steps are unstable or she walks unbalanced, and this symptom begins at the same stage.
• Slow growth in head circumference, as the girl’s head grows slowly compared to the rest of the body, and this usually appears between one and two years.
• Breathing problems, such as rapid breathing or holding your breath frequently. This symptom often begins at the age of two years.
• Sudden bouts of screaming or crying for no apparent reason, starting at the same stage.
• A decline in communication, as the child responds less to those around her and her ability to express her needs weakens. This usually appears between two and three years of age.

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Symptoms of Rett syndrome

The symptoms of Rett Syndrome appear gradually and multiple times and include physical, behavioral and neurological aspects and affect the girl’s life significantly at various stages of her development. The most important of these symptoms are the following:

• Slow physical growth, especially in head and body size.
• Loss of acquired skills such as speech or use of hands.
• Involuntary and repetitive movements of the hands, such as rubbing or clapping.
• Difficulties in walking, poor balance, and decreased muscle strength.
• Convulsive or epileptic seizures occur frequently.
• Curvature of the spine such as scoliosis or kyphosis.
• Breathing disturbances such as holding your breath or rapid breathing.
• Sleep problems such as nocturnal insomnia or sudden awakening.
• Increased saliva secretion and difficulty swallowing and chewing food.
• Teeth grinding during sleep or during times of stress.
• Abnormal eye movements such as squinting, squinting, or frequent blinking.
• Weakness in social communication and decline in interaction with others.
• Avoid eye contact and autism-like behavior.
• Mood swings such as crying or laughing for no apparent reason.
• Repetitive or unusual behaviors such as hand biting or skin scratching.
• Digestive system disorders such as constipation or acidity.
• Changes in heartbeat, such as speeding up or slowing down.
• Reduced sensation of pain and coldness in the hands and feet.

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Diagnosis of Rett syndrome

Diagnosis of Rett syndrome depends on carefully observing the clinical symptoms, along with conducting medical examinations and genetic analyzes to confirm the infection and rule out similar cases. Below is a detailed explanation of all the diagnostic steps as follows:

Firstly, the symptoms that lead the doctor to suspect the presence of the syndrome

• Loss of motor or communication skills after the age of six to eighteen months.
• Repetitive and involuntary movements of the hands, such as rubbing or squeezing.
• Loss of ability to speak or apparent impairment in communication.
• Noticeable slowdown in head circumference growth.
• Problems with balance and unsteady walking or movement.
• Recurrent seizures or significant cognitive delay.

Secondly, initial examinations and tests

• Take a complete medical history with a comprehensive clinical examination.
• Genetic test to analyze the MECP2 gene.
• Electroencephalogram to detect the presence of epileptiform activity.
• Brain MRI to rule out other diseases.
• ECG and respiratory function examination to check on the heart and lungs.

Third, the role of genetic tests in confirming the diagnosis

• Testing the MECP2 gene is considered the basis for confirming infection.
• The presence of the genetic mutation supports the diagnosis, but does not depend on it alone without clear symptoms.
• The absence of a mutation does not rule out the syndrome if the symptoms are compatible.

Fourth, the role of the medical team

• A pediatric neurologist undertakes the complete evaluation and follow-up of the case.
• A geneticist specializes in genetic tests and provides advice to the family.
• A speech-language pathologist evaluates communication and speech problems.
• Physical therapists help evaluate movement and balance.
• A multidisciplinary team collaborates for accurate diagnosis and continuous follow-up.

Fifth, international standards for diagnosing Rett syndrome

• There is a loss in motor and speech skills after a period of normal development.
• Appearance of repetitive and non-functional hand movements.
• Loss of the ability to use the hands normally.
• Obvious disturbance in walking or balance.
• Slowed head growth.
• The presence of supporting symptoms such as sleep and breathing disorders, spinal curvature, or epileptic seizures.
• Atypical cases can be diagnosed if basic criteria are present along with several supporting symptoms.

Treatment of Rett syndrome

Treatment for Rett Syndrome does not aim to cure because there is no definitive treatment yet. Rather, it focuses on alleviating the symptoms and improving the girl’s life through integrated care, rehabilitation treatment, and psychological support. These are the most important treatment methods available as follows:

العلاجات الدوائية

• Trofenitide is the first drug treatment approved to improve some symptoms related to movement, speech, and behavior.
• Anticonvulsant medications used to control epileptic seizures such as valproate or levetiracetam and others.
• Sleep aids, such as melatonin, relieve sleep disturbances.
• Medications to treat esophageal reflux and digestive disorders to reduce acidity and improve digestion.
• Nutritional supplements such as vitamin D and calcium to strengthen bones, and energy-boosting medications such as levocarnitine may be used.

Non-drug treatments

• Physical therapy to improve movement and balance and prevent bone deformities.
• Occupational therapy to help the girl perform daily activities better.
• Speech therapy to help her develop nonverbal communication skills.
• Behavioral therapy to reduce repetitive behaviors and tantrums.
• Supportive activities such as music therapy, sensory exercises or swimming.

Psychological and educational support for the family

• Psychological support for parents through counseling sessions or support groups.
• Providing special education through early intervention programs and coordination with schools and special education specialists.

Latest research and clinical trials

• Trofenitide was approved as the first drug designated to treat Rett Syndrome after encouraging results.
• Clinical trials on gene therapy to replace the affected gene and radically improve symptoms.
• Studies on new drugs such as IGF-1, ketamine and stem cells are currently being conducted with the aim of finding future solutions.

Long-term treatment tips to improve quality of life

• Proper nutrition to avoid constipation and malnutrition. A feeding tube may be used in advanced cases.
• Alternative communication technologies such as boards or apps to facilitate expression.
• Periodic medical follow-up to examine the heart, bones, and growth in general.
• Continue regular physical and rehabilitation therapy even with slow progress.
• Providing a supportive environment full of encouragement, love, and participation of the girl in interactive and social activities.

Living with Rett Syndrome

Living with Rett Syndrome requires organized daily care and continuous educational and psychological support for the child and the family to ensure the best possible life. The following are the most important aspects that help in this:

Daily lifestyle and organization of home care

• Establish a fixed daily schedule that includes sleep, food, and simple activities.
• Provide ongoing assistance with basic tasks such as eating and dressing.
• Regular follow-up of physical, occupational and speech therapy sessions.
• Monitor the girl's health condition with specialist doctors.
• Preparing the home for the child’s needs while providing safe and comfortable tools.

Educational challenges and learning support

• Integrating the girl child into special educational programs with individual plans that suit her abilities.
• Use alternative means of communication such as pictures or educational applications.
• Providing speech therapy to help her express and interact.
• Integrate creative activities such as drawing and music into learning.
• Providing an assistant teacher and appropriate adjustments within the classroom.

The role of the family and psychological and communication support

• Create a family atmosphere full of love, support and reassurance.
• Paying attention to the psychological state of the family and relieving stress.
• Ask for help when needed and do not hesitate to take breaks.
• Constant communication with the medical and educational team to update the care plan.
  Utilize support groups and trusted sources for useful information and experiences.

Frequently asked questions

What is the difference between Rett syndrome and autism?

Rett syndrome and autism share some symptoms, such as poor communication and repetitive behaviors, but Rett syndrome is caused by a specific genetic mutation and begins after a period of normal development, while autism appears early and varies in severity. Rett also mostly affects girls and causes a gradual deterioration in skills.

How do I know that my child has the syndrome?

You may notice that your child is losing acquired skills such as speech or using the hands after the age of six months, with the appearance of repetitive hand movements, a decline in communication or walking, in addition to slow head growth. If you notice these signs, it is recommended to see a specialist doctor to conduct the necessary tests.

Is Rett syndrome recessive or dominant?

Rett syndrome is caused by a mutation in the MECP2 gene on the X chromosome. It is considered one of the dominant hereditary diseases linked to the

Can Rett syndrome be cured?

Rett syndrome cannot currently be cured because it is caused by a genetic defect, but available treatments help relieve symptoms and improve life through physical, psychological, and speech therapy. Research is also ongoing in the fields of gene therapy and new medications and may hold hope for the future.

Rett Syndrome is a complex condition that requires deep understanding and continuous care. Although there is no definitive cure, early diagnosis and comprehensive treatment help improve the girl’s life, and family support gives her the strength to face daily challenges. Hope remains with the continuous progress in medical research and with the hard work of the doctors of the Al-Rafah Center of Al-Mousa Health Hospital, who are doing their best to alleviate this condition for all patients. 

Sources 

Rett Syndrome – ninds

Rett Syndrome – clevelandclinic