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Rett’s syndrome Causes, Symptoms and Treatment

Rett syndrome is a rare genetic disorder that disrupts the development and maturation of the brain. It occurs in babies and young children, almost exclusively in girls.

A child with Rett syndrome demonstrates normal development early in life. The first symptoms are between 6 and 18 months old. Affected children gradually have movementcoordinationand communication problems that affect their ability to speak, walk and use their hands. This is called polyhandicap.

A new classification for pervasive developmental disorders (PDD).

Although Rett syndrome is a genetic disorder, it is part of pervasive developmental disorders (PDD). In the next edition (to be published in 2013) of the Diagnostic and Statistical Manual of Mental Disorders (DSM-V), the American Psychiatric Association (APA) proposes a new classification for TEDs. The different forms of autism will be grouped into a single category called “Autism Spectrum Disorders”. Rett syndrome will therefore be considered as a rare genetic disease completely apart.

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Causes of Rett’s syndrome

The majority of cases of Rett syndrome (greater than 99.9%)  are caused by a sporadic mutation of the MECP2 gene, which is found on the X chromosome. The mutation is spontaneous, which means that it occurs at random and cannot be passed from parent to child. In a few rare cases (around 1%), the disease is transmitted genetically by women.

Associated disorders

  • Problems engines causing difficulty walking;
  • Sleep problems. Children fall asleep during the day and are awake at night;
  • Epileptic seizures;
  • Eating difficulties that lead to poor nutrition and stunting;
  • Thin and fragile bones, prone to fracture ;
  • progressive scoliosis that may require surgery;
  • Heart problems that can reduce life expectancy;
  • Anxiety and behavior problems.

Prevalence

In Europe and Canada, the prevalence of Rett syndrome is estimated at about one in 10,000 to 15,000 girls. In France, this represents 25 to 40 new cases each year. It is the first cause of polyhandicap of genetic origin in the hexagon.

Diagnostic of Rett’s syndrome

The diagnosis of Rett syndrome is established first by clinical signs using the main symptoms of the disease. A genetic test can confirm the diagnosis. A sample of the child’s blood is then analyzed to identify the presence of a mutation in the MECP2 gene. However, the absence of mutation is not found (5 to 20%) in girls with clinically typical Rett syndrome. Mutations of other genes could give similar clinical pictures for atypical forms.

Symptoms of Rett’s syndrome

Babies with Rett syndrome are usually born after normal pregnancy and delivery. The first symptoms appear from 6 months, but the most pronounced changes occur between 12 and 18 months:

  • Slower growth of the skull. This is usually the first sign that a child has Rett syndrome. As the child grows up, stunting of other parts of the body becomes more obvious;
  • The loss of coordination of the hands. The child stops using his hands to point objects. He may have difficulty grasping objects. He develops stereotyped movements of the hands such as beats, twists, rubs, tapping, etc;
  • Of communication disorders. The child stops speaking when he knows how to say certain words. The child loses interest in people, toys or the environment. The child withdraws socially;
  • Of seizures. They occur in 50 to 90% of girls with Rett syndrome and result in muscle spasms that can go as far as true epileptic seizures;
  • lack of coordination and balance. The child loses his ability to crawl or walk;
  • An irregular breathing in wakefulness. The child has respiratory problems such as apnea, hyperventilation, blockage of breathing, forced expulsion of air or saliva, swallowing of air (aerophagia);
  • Of irritability. In young children, periods of crying and shouting that can last for hours;
  • scoliosis or abnormal curvature of the spine. This usually occurs around the age of 8 to 11 years;
  • Arrhythmia, or irregular heartbeat that can reduce the life expectancy of children or adults with it
  • Constipation;
  • Disorders of swallowing (hypoesthesia);
  • Vasomotor disorders. Feet may become cold, purplish or discolored;
  • Strange and sudden facial expressions, prolonged laughter, cry for no apparent reason or sudden gestures.

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Evolution of the disease

Rett syndrome is divided into four stages:

  • Stage 1: starts between 6 and 18 months. The child, whose development was normal, decreases his interest in toys or people. The growth of his skull slows down;
  • Stage 2: starts between 1 and 4 years old. Fast regression that occurs in a few weeks or months. The child no longer communicates with his entourage, stops walking or using his hands, presents stereotyped movements of the hands, makes seizures;
  • Stage 3: starts between 2 and 10 years old. Stationary phase that can last several years. Even if movement problems persist, the behavior improves. The child is calmer, has fewer crises. The child regains visual contact and relearns how to use his hands. Some have respiratory problems. Some children remain at this stage the rest of their lives;
  • Stage 4: begins after 10 years. The motricity deteriorates; the child does not work anymore. Appearance of scoliosis, muscle weakness. The children do not usually speak but communicate especially by the look. Most reach adulthood.

During the first two stages, it is sometimes difficult to differentiate Rett’s syndrome from autism.

People at risk for Rett’s syndrome

Rett syndrome is a rare disease caused by genetic mutation. In almost all cases, it affects only one person per family. It affects children of all countries and all social conditions.

Risk factors

No factors have yet been detected.

Prevention

In most cases, Rett syndrome is the result of a genetic mutation that appears spontaneously. There is no way to prevent this disease.

Medical Treatments of Rett Syndrome

There is no cure for Rett’s Syndrome, but medications help control some of the symptoms of the disease.

The treatment of Rett syndrome involves the combined work of several health professionalssuch as educators, physiotherapists (physiotherapists in Canada and Switzerland), psychomotor therapists, speech therapists, etc. A doctor (child psychiatrist then general practitioner) will coordinate the different care and constantly reassess the evolution of the disease to prescribe care accordingly. The child will need support throughout his life.

Management of epileptic seizures

The most common drugs used to treat epilepsy are CarbamazepineLamotrigine and Valproate.

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Management of sleep disorders

Melatonin (Circadin) can be used to reduce the sleep disorders seen in people with Rett syndrome.

Food management

Adequate nutrition is needed to maximize growth and improve the mental and social skills of girls with Rett syndrome. Some affected children must follow a diet high in fat and calories; others must be nourished by intubation. Calcium and mineral supplements help strengthen the bones, which slows the progression of scoliosis. Swallowing disorders sometimes require adaptation of the diet (mixed feeding).

Management of motor disorders

Early management of motor disorders improves and slows down their progression. Interventions are primarily aimed at maintaining joint mobility, preventing muscles and tendons from retracting, and preventing skeletal deformities.

  • Support by night or day apparatus to maintain good sitting or standing positions;
  • corset for the maintenance of the spine. A surgery is sometimes necessary when scoliosis worsens;
  • Physiotherapy sessions including regular exercises to develop or maintain walking, mobilize joints and improve coordination;
  • Occupational therapy sessions to promote fine motor skills (manual) and to set up technical aids (contactors, equipment, adaptations of housing and vehicle);
  • Psychomotor sessions including exercises in individual or group sessions. During this accompaniment, the children are positioned in situation of physical well-being (often on carpets on the ground, out of the apparatuses). We also aim to develop their body and sensory awareness;
  • Speech therapy sessions. Children with Rett Syndrome often have swallowing problems. Specific rehabilitation will aim to trigger a reflex swallowing;
  • Injections of botulinum toxin are sometimes given to reduce muscle spasticity.

Management of communication disorders

The Rett girls are deprived of verbal communication. The management will consist of understanding what the child is trying to say with his body and then set up non-verbal means of communication.

  • Decode the original language of the child. This non-verbal language consists in observing and decoding the needs and desires of the child through his postural modifications, tonic, mimicry, his look, his cries, his tears;
  • Placing p ictogrammes representing objects, people or actions of everyday life to facilitate communication.

School support

Every little girl with Rett Syndrome has a unique evolution and needs. Regular schooling is possible and strongly recommended to develop the social skills of the child. At the request of the parents, it is possible to establish a personalized schooling project (PPS) which provides for human helpers (Auxiliary School Life) and special facilities for the child, while leaving plenty of time for care in the timetable. The use of a SESSAD, on request from the MDPH, facilitates schooling. His team intervenes for the re-education on the grounds of the school and makes the link with / between the teaching team and the family.

Learning is based on improving communication and includes:

  • Various activities, sports and fun, to facilitate integration into the environment.
  • Activities encourage the child to communicate even non-verbally.

Often, beyond the small classes (maternal), the advance of the disease does not allow these children to continue their education in a traditional environment. Parents can call on the MDPH. It will direct them to a specialized institution (IME, SESSAD, SSAD …) which will provide medical, educational, social and educational support.

Psychological care

Counseling is highly recommended for these children / adults but also for parents and siblings. Many specialists (psychiatrists, psychologists) specialize in supporting patients who do not use oral language.

Become an adult

Specialized follow-up is necessary in adulthood. It includes the various support mentioned above. On request from the MDPH, it will be possible to benefit from a specialized reception (MAS, FAM, SAMSAH …).

If the follow-up started early in childhood, the professionals will work to preserve the gains and the well-being of the person. The work of autonomy will be at the heart of the team’s concerns. The adult suffering from Rett Syndrome will have to benefit from all the necessary aids with the purpose of developing his communication and traveling abilities to promote his personal and social development.

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