Rett Syndrome

Rett Syndrome is a neurogenetic developmental disorder that occurs almost exclusively in females, because boys with this disease typically have symptoms so severe during pregnancy that it results either in miscarriage or survival for only a few days or months after birth.

The disorder has been documented worldwide, with a reported prevalence of 1 in 10,000–22,000 living females. The cause is a mutation in the MECP2 gene, which is located on the X chromosome.

Children with Rett syndrome develop normally until about 6 to 18 months of age and reach milestones at typical ages (rolling over, crawling, walking, language development, etc.). After this period, however, stagnation occurs, followed by regression/loss of skills that had previously been acquired. From this point onward, children gradually lose muscular abilities, develop impaired coordination and loss of control over movements, and their communication abilities deteriorate. Rett syndrome may also cause seizures and intellectual disability.

Typical are abnormal tics or ineffective, repetitive hand movements that occur constantly — “hand‑wringing,” clapping, hand‑washing–like motions, or clasping of the hands — which interfere with their ability to focus on other activities.

Symptoms:

For Rett Syndrome, a normal pregnancy and an uncomplicated birth with normal postnatal adaptation are typical. The first symptoms appear only after this asymptomatic period — note: this does not mean that Rett syndrome arises at 6–18 months; it is a genetic disorder present already in utero, but the symptoms emerge later, after an initially symptom‑free period.

• slowed growth — microcephaly may be the first sign; later, a doctor may notice delayed growth of other parts of the body
• loss of normal movements and coordination — loss of control and coordination of the hands, loss of the ability to walk or crawl normally. Later, hypotonia (reduced muscle tone) and abnormal positioning of the limbs may develop
• loss of communication skills — during the symptom‑free period, children begin to communicate, make eye contact, and develop speech, which is then lost after this period. They begin to lose interest in others, in toys, and in the outside world — they withdraw into themselves more noticeably. Speech development stops, or disappears entirely. However, with therapy and continuous stimulation, children with Rett syndrome can regain this ability to a certain degree, and can learn nonverbal communication
• abnormal repetitive hand movements (“tics”) — they develop repetitive hand tics: hand‑wringing, clapping, mouthing the hands, constant clasping of the hands, squeezing, tapping, pinching, etc.
• abnormal eye movements — staring, excessive blinking, closing the eyes, blinking with one eye
• abnormal breathing — hyperventilation, air swallowing, breath‑holding, forceful exhalation with drooling
• irritability and crying
• abnormal behavior
• cognitive impairment
• seizures
• abnormal curvature of the spine — scoliosis
• heart palpitations and cardiac arrhythmias — in adulthood, statistics show an increased risk of sudden cardiac death
• sleep disorder
• other

Treatment:

Therapy is focused on maintaining or improving motor functions, walking and balance, improving hand use, improving communication skills, supportive therapy for associated complications, music therapy, hippotherapy, hydrotherapy, and others.

• normálny vývoj do 6. - 18. mesiaca života
• stagnácia psychomotorického vývoja, neskôr až regresia vývoja
• zhoršenie kontaktu s okolím, chýba záujem o hru
• ťažko poškodená reč
• hyperventilácia (zrýchlené dýchanie)
• roztrasenosť trupu a končatín pri rozrušení
• autistické prejavy správania
• podráždenosť či ataky smiechu
• agresivita a autoagresivita
• problémy s koordináciou hrubej motoriky (stoj, chôdza, lezenie,...)
• problémy s koordináciou jemnej motoriky (siahanie po hračkách, uchopovanie predmetov,...)
• stuhnutosť svalov, kŕčovitosť a skrátenie svalstva
• rôzny stupeň mentálnej retardácie
• skolióza
• epileptické záchvaty najrôznejšieho druhu
• často badateľný hmotnostný úbytok až kachexia (podvýživa)
• škrípanie zubov (bruxizmus)
• žuvacie a ťažkosti pri prehĺtaní
• zápcha
• abnormálny spánkový režim (poruchy cirkadiánneho cyklu)