Rett syndrome is a neurological disorder in which there is a mutation in a single gene, the MECP2 gene, located on the X chromosome. This very rare syndrome mostly affects girls rather than boys. Rett syndrome, which is a lifelong condition, is genetically based, and there is no known cure. Symptoms can be managed, and early detection is key to making it easier for both the child affected and their family. The patient will need constant care for the rest of their life. Symptoms of Rett syndrome are similar to the symptoms of severe autism. It is important to differentiate between the two diseases to get a correct diagnosis.
The earliest known signs of Rett syndrome start at 6 months of age. Before then, the baby seems like any other healthy baby. Typically, Rett Syndrome is discovered in the first two years of the child's life. Symptoms can progress slowly or come on quite quickly. Rett Syndrome sufferers have stunted growth, which becomes more obvious as the child grows older. Those with the condition tend to be short in stature and underweight.
When the brain of a baby doesn't grow properly, the head doesn't increase in size. Doctors generally take head measurements until children are 2 or 3 years old. If the child's head size is lower than a certain average, then they're considered microcephalic. Many causes exist for microcephaly or small heads in babies. Protein contains the mutated gene involved with Rett syndrome, which is necessary for the development of the brain and nervous system. Small brain growth also affects the slow development of the body of a child suffering from Rett syndrome.
Between the ages of 1 and 4, children with Rett Syndrome typically lose the use of their hands. They may also develop other habitual hand movements, often associated with other autistic conditions, such as hand-wringing or hand washing, clapping, tapping or clasping. This phase of the condition can continue long into the teens. These physical manifestations may improve slightly over time but will be with the patient for the remainder of their life.
Children with Rett Syndrome typically lose their ability to speak between ages 1 and 4. This is the beginning of a communication shutdown in their bodies. The MECP2 gene, which is responsible for movement as well as cognitive, sensory, emotional, motor and autonomic skills, affects their brain and the ability to create the right sounds with their mouths and vocal cords. Rett syndrome patients tend to develop some non-verbal communication skills over time.
The social anxiety experienced by the small children affected by Rett Syndrome can cause a tremendous feeling of being overwhelmed and alone. They may start to avoid eye contact, regress from contact with people and, as their power of speech declines, lose the will to try to speak. Because of these symptoms, Rett Syndrome is often wrongly diagnosed autism. These signs can develop as early as age 1 to 4 years old.
After the first signs of loss of hand control, the loss of control in other muscles and limbs is imminent. The baby or child may not be able to crawl or walk properly as muscles become weaker. They may also take on a rigid form of spasticity. This degeneration of the ability to control the muscles may occur very quickly. Documentation suggests that after the first initial bout of regression, the rate of reduction of movement slows as the child gets older.
Difficulty breathing is very common in children with Rett Syndrome. They may experience an uncoordinated breathing pattern, known as ataxic breathing, where there are irregular pauses between breaths and periods of apnea. They may also experience hyperventilation, which occurs when a person breathes very, very quickly, disrupting the balance of oxygen and carbon monoxide and sometimes causing fainting. Also common is forceful exhaling of air and sometimes saliva, as well as gulping large amounts of air. Extra oxygen through a face mask can help, and certain techniques can calm the affected child and help restore a consistent breathing pattern.
Up to 80 percent of Rett Syndrome sufferers experience seizures during their lifetime, often experienced during sleep, sometimes continuously, or at times of low activity or rest. Other seizures take the form of non-epileptic paroxysmal events. Linked to breathing abnormalities, these appear to be seizures with erratic movements, breath holding, and sleep/wake transitions. Anti-seizure medications can control seizures in Rett Syndrome patients, but there are no clinical trials for these meds.
Every child gets irritated or frustrated at times, even progressing to outbursts or temper tantrums. Children with Rett Syndrome may have magnified instances of irritability because they can't control their movements or communicate their wants and needs. They may have episodes where they cry and scream for extended periods of time, or on the flip side, they may have long fits of laughter. These periods of irritability and frustration only get worse over time.
Rett Syndrome disrupts the entire digestive tract, and gastrointestinal problems affect most children with Rett Syndrome, starting with problems chewing and swallowing. They don't get the nutrition they need because of the issues they have getting food into the system. From here, the entire digestive system is disrupted by the lack of communication between the brain and the stomach muscles. The child may experience gastrointestinal reflux, bloating and constipation, and delayed stomach emptying, also called gastroparesis. Naturally, these digestive issues have an enormous impact on quality of life.
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