Health Problems and Rett Syndrome



Once your child has been diagnosed with Rett Syndrome, the first thing that comes to your mind is what health problems will become apparent. One of the common problems that children with this disorder face in the UK, is seizures. Roughly 80% of people with the disorder suffer from them. Usually, the seizures will begin around age 2, but it is possible for them to start during the first year of life. Various seizure types can occur, including myoclonic, tonic, absences, and generalised convulsive seizures. Often, a person who is diagnosed with Rett Syndrome will experience multiple types of seizures. Infantile spasms are another type of seizure to occur. In many cases people experience less frequent seizures as they grow older.

Another important health problem to consider is a curved spine. Again, 80% of girls with Rett Syndrome have a curved spine, otherwise known as scoliosis. This condition might not start to take shape until 10 years of age, or during the teen years. Under the most dire circumstances, extreme curvatures of the spine will require surgery. In other patients, a back brace works to strengthen and straighten the spine. Tight joints and rigidity within the muscles characterise additional orthopedic problems in girls. Poor circulation brought on by difficulties with walking can result in bluish-looking feet. Problems with walking might become worse over time without proper treatment.

Constipation and acid reflux disease are very common in people who have the disorder. This occurs when bile, acid, and partially-digested food ends up backing up into the esophagus. Feeding oneself is a major issue for some people, and it is further complicated by the stomach issues which occur. Some girls have trouble with chewing their food correctly due to motor movement problems associated with Rett Syndrome. This leads to issues revolving around maintaining a healthy weight, and many patients end up becoming over or underweight. Feeding tubes are used in circumstances in which a child cannot feed him or herself.

Girls who have Rett Syndrome suffer from breathing issues as well in some cases. Breath holding, air swallowing, hyperventilation, and irregular breathing patterns are common. Fainting spells might happen when these breathing problems occur, and they are often mistaken for seizures as a result. Disrupted sleep patterns during the night are caused by irregular breathing, and this must be closely monitored. Often, sleep issues are one of the early indicators for a diagnosis of Rett Syndrome.

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