Disease: Rett Syndrome
Symptoms: Babies with Rett syndrome usually are born after an uncomplicated pregnancy and delivery. Most infants with Rett syndrome seem to grow and behave as expected for the first six months. After that, signs and symptoms start to appear. The most pronounced changes generally occur at 12 to 18 months of age, over a period of weeks or months. Symptoms and their severity vary greatly from child to child. The main signs and symptoms include:  Slowed growth. Brain growth slows after birth. Smaller than usual head size (microcephaly) is sometimes the first sign that a child has Rett syndrome. As children get older, there is delayed growth in other parts of the body. Loss of movement and coordination abilities. The first signs often include reduced hand control and a decreasing ability to crawl or walk. At first, this loss of abilities occurs rapidly, and then it continues more gradually. Eventually muscles become weak or stiff, with unusual movement and positioning. Loss of communication abilities. Children with Rett syndrome typically begin to lose the ability to speak, to make eye contact and to communicate in other ways. They may become disinterested in other people, toys and their surroundings. Some children have rapid changes, such as a sudden loss of language. Over time, children may gradually regain eye contact and develop nonverbal communication skills. Unusual hand movements. Children with Rett syndrome usually develop repetitive, purposeless hand movements, which differ from child to child. Hand movements may include hand-wringing, squeezing, clapping, tapping or rubbing.  Other signs and symptoms can include:  Unusual eye movements. Children with Rett syndrome tend to have unusual eye movements, such as intense staring, blinking, crossed eyes or closing one eye at a time. Breathing problems. These include breath holding, rapid breathing (hyperventilation), forcefully blowing out air or saliva, and swallowing air. These problems tend to occur during waking hours. Other breathing disturbances such as shallow breathing or short periods of stopping breathing (apnea) can occur during sleep. 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. Other unusual behaviors. These may include, for example, sudden, odd facial expressions and long bouts of laughter, hand licking, and grasping of hair or clothing. Intellectual disabilities. Loss of skills may be connected to losing the ability to think, understand and learn. Seizures. Most people who have Rett syndrome experience seizures at some time during their lives. Multiple seizure types may occur and are associated with changes on an electroencephalogram (EEG). Sideways curvature of the spine (scoliosis). Scoliosis is common with Rett syndrome. It typically begins between 8 and 11 years of age and progresses with age. Surgery may be required if the curvature is severe. Irregular heartbeat. This is a life-threatening problem for many children and adults with Rett syndrome and can result in sudden death. Sleep disturbances. Problems with sleep patterns can include irregular sleep times, falling asleep during the day and being awake at night, or waking in the night with crying or screaming. Other symptoms. A variety of other symptoms can occur, such as a decreased response to pain; small hands and feet that are usually cold; problems with chewing and swallowing; problems with bowel function; and teeth grinding.  Stages of Rett syndrome Rett syndrome is commonly divided into four stages:  Stage 1: Early onset. Signs and symptoms are subtle and easily overlooked during the first stage, which starts between 6 and 18 months of age. Stage 1 can last for a few months or a year. Babies in this stage may show less eye contact and start to lose interest in toys. They may also have delays in sitting or crawling. Stage 2: Rapid deterioration. Starting between 1 and 4 years of age, children lose the ability to perform skills they previously had. This loss can be rapid or more gradual, occurring over weeks or months. Symptoms of Rett syndrome occur, such as slowed head growth, abnormal hand movements, hyperventilating, screaming or crying for no apparent reason, problems with movement and coordination, and a loss of social interaction and communication. Stage 3: Plateau. The third stage usually begins between the ages of 2 and 10 years, and it can last for many years. Although problems with movement continue, behavior may slightly improve, with less crying and irritability, and there may be some improvement in hand use and communication. Seizures may begin in this stage and generally don't occur before the age of 2. Stage 4: Late motor deterioration. This stage usually begins after the age of 10 and can last for years or decades. It's marked by reduced mobility, muscle weakness, joint contractures and scoliosis. Understanding, communication and hand skills generally remain stable or improve slightly, and seizures may occur less often.