Rett syndrome is a neurological disorder caused by mutations in the MECP2 gene, which encodes for the methyl-CpG binding protein 2.

The condition, which overwhelming affects females, is associated with problems in cognitive, sensory, emotional, and motor skills, and across the nervous system that controls involuntary (or autonomic) functions. These problems often lead to severe difficulties in learning, speech,  mood, movement, and breathing, as well as in the cardiac and gastrointestinal systems.

Symptoms associated with Rett syndrome generally begin to become evident early in life, when normal develop for an infant or toddler starts to slow, stagnate or regress, often between ages 6 and 18 months.

Common symptoms, which can vary greatly among individuals with Rett syndrome, are summarized below.

Growth defects

As early as 3 months old, an infant may begin to show slowing head growth that can result in microcephaly, a condition characterized by a smaller head circumference than would be expected for the child’s age and gender.

Slowed development across the body may become evident as the infant reaches 6 to 18 months of age. The hands and feet may be less developed and, for some, frequently cold.

Motor problems

Between ages 1 and 4, children with Rett syndrome show poorer hand control with characteristic hand movements (see below), and a decreasing ability to crawl or walk as would be expected for their age. Loss of these abilities may be rapid at first but, over time, continue more gradually. As patients age, their muscles become weak, rigid, or spastic (muscle stiffness or spasms), causing abnormal movement and positioning.

Difficulties with chewing, swallowing and with digestion are also known.

In general, problems with the development of later motor skills can begin to become evident around or after age 10. Some children with classic Rett syndrome may never be able to walk, whereas others may gradually lose this ability.

Patients may also experience increasing muscle weakness, joint contractures (less flexible or stiff joints), and spasticity that results in slow, stiff movements of the legs.

Most affected individuals develop dystonia, a condition characterized by abnormal, uncontrolled movements and postures — like repetitive or twisting movements — due to sustained muscle contractions.

Some may develop motor symptoms similar to those seen in Parkinson’s disease, such as poorer facial expression, rigidity, and tremor.

Communication issues

Children with Rett syndrome typically begin to lose an ability to speak, lose already exhibited hand skills, and show autism-like symptoms such as social isolation or withdrawal and reduced eye contact. They may become disinterested in other people, toys, and their surroundings.

Some children manifest a sudden loss of speech, which can be accompanied by a decline in intellectual function. This deterioration can be rapid or gradual.

Over time, however, these children can gradually re-establish eye contact, and develop nonverbal communication skills. Improvement in person-to-person interaction is also possible.

Apraxia

Apraxia is characterized by an inability to perform familiar and previously learned movements on command, even though the person understands what is being requested and would like to comply or respond. Apraxia usually affects both communication and movement.

Hand movements

Children with Rett syndrome gradually lose the ability to make purposeful hand and finger movements. They develop characteristic gestures that appear stereotyped, including hand wringing or squeezing, clapping, rubbing, or repetitive moving of the hand to the mouth.

Eye movements

Children with Rett syndrome tend to have unusual eye movements, such as intense staring, blinking, crossed eyes (esotropia), or closing one eye at a time.

Breathing problems

Breathing problems can be common in children with Rett syndrome, expressed breath-holding, rapid breathing (hyperventilation), unusually forceful exhalation of air or saliva, or air swallowing (aerophagia) especially during waking hours. Shallow breathing (tachypnea) or temporary cessation of breathing (apnea) can occur during sleep. Breathing problems tend to worsen with stress.

Irritability and crying

Children with Rett syndrome may become increasingly agitated and irritable as they get older. Periods of crying or screaming may begin suddenly for no apparent reason and last for hours. Some children may experience fears and anxiety, and have panic attacks and be prone to grinding their teeth.

Cognitive disability

Loss of skills can be accompanied by a diminishment of intellectual abilities, although this is hard to assess because of difficulties with speech and controlled hand gestures.

Seizures

Seizures at some point during a patient’s life are common. Multiple seizure types may occur.

Abnormal curvature of the spine (scoliosis)

Scoliosis is common in individuals with Rett syndrome. It typically begins between ages of 8 and 11, and worsens as child continues to grow. Surgery may be required in severe cases.

Irregular heartbeat

Although most people with Rett syndrome live to adulthood with proper care, they are at risk of sudden and unexpected death. Nearly 25 percent of deaths in patients are of this nature, and thought to be related to problems with the electrical nerve impulses that regulate the heartbeat or the rhythmic pumping of heart muscle.

Sleep issues

Abnormal sleep patterns can include irregular sleep times, such as falling asleep during the day and being awake at night or waking in the night.

Abnormal behaviors

These may include sudden and odd facial expressions and long bouts of laughter, hand licking, and grasping of hair or clothing.

Bone problems

Some people with Rett syndrome develop osteopenia, a condition characterized by decreased bone mineralization and bone loss. Osteopenia can result in weak and fragile bones that are prone to fractures.

Gastrointestinal issues

Gastrointestinal problems are caused by abnormal muscle contractions or problems with the nerves that control the bowels. They can include constipation, gastroesophageal reflux, and abnormal widening (dilation) of the colon. People with Rett syndrome may also be prone to gallbladder disorders and develop gallstones.

Gait problems

Some individuals with Rett syndrome may have difficulties with balance, due to problems in coordinating the voluntary muscles of the legs.

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Rett Syndrome News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website