Sofia, not her real name, would go about clapping and blinking for a few minutes. At 2 years of age, she has periods of staring, in between little social contact with people around her. Her mom would always say that she used to be attentive and would babble a lot even though she seemed to have a small head. Now, she would cry and laugh for a long time, and no reason at all. She also is not able to stand on her own, much less walk a few steps or run like her playmates.
Not all individuals who have difficulty in speech or social contact have autism. In the past, a spectrum for classification of autistic disorders was utilized. However, some neurologic conditions that do not necessarily belong to the range. One such condition that is brought about by a gene mutation is Rett syndrome. The mutation is specifically on a gene called MECP2 in the X chromosome, and there are more than 200 different mutations found on this MECP2 gene. Most of these mutations are observed in eight different ‘hotspots’.
Signs and symptoms are more observed in girls than in boys because it affects the X chromosome. It is usually diagnosed in childhood when a baby is noticed to have deterioration of motor and speech functions. The manifestations often appear at 12 to 18 months of age. Most common of which are as follows:
1. Hand movements – Repetitive hand movements may be observed, like clapping, tapping, squeezing or hand wringing.
2. Motor incoordination – There is deterioration of movements until muscles weaken, and there is awkward crawling or walking and positioning.
3. Breathing issues – Even muscles for breathing have problems; rapid breathing, breath-holding, forceful exhalation or swallowing of air, and even saliva are not uncommon.
4. Slow growth and language development – Children affected by the mutation will experience a failure to thrive in that aspect.
Diagnosis of Rett syndrome is either molecular (via the presence of gene mutation in the blood sample) or clinical (through the fulfillment of criteria based on signs and symptoms). The condition may be mild or severe, depending on factors, namely: the location, type, and severity of the gene mutation and X-inactivation. It is even said that no two girls of the same age with the same mutation will appear the same.
Children with Rett syndrome may become increasingly upset and easily agitated as they get older. Periods of screaming or crying may begin for no apparent reason and may last for several minutes to long hours. Some children may experience fears and anxiety. They may also have other abnormal behaviors, like odd facial expressions or long bouts of laughter. Some children may also have sleep problems or seizures. Other accompanying symptoms may also be fragile bones, spine curvature problems, and irregular heartbeat. The latter may be a life-threatening problem for many children and adults with Rett syndrome.
There are several stages of Rett syndrome, namely:
Early onset – In this stage, signs and symptoms may not be very overt and may be easily overlooked. Caregivers may notice slight differences between 6 and 18 months of age and may last for a few months or a year. Babies in stage 1 may show less eye contact and start to lose interest in toys. They may also have delays in sitting or crawling.
Rapid deterioration – Beginning from 1 up to 4 years of age, children with Rett syndrome will lose the ability to perform some tasks that they can do before. The deterioration in function may be rapid or more gradual, occurring over weeks to months. Common symptoms of movement, speech, and mood begin to appear.
Plateau –This stage typically happens when a child is 2 to 10 years of age. There may be a noticeable improvement in behavior and communication issues but movements may still be unstable and delayed. Seizures may also begin in this stage.
Late motor deterioration – This stage usually begins after the age of 10 and may persist for years or even decades. There is a significant reduction in mobility, muscle weakness, joint limitations, and scoliosis. Stability in comprehension, communication, and hand movements may generally be observed. Seizures may happen less often.
Rett syndrome is a postnatal life-long condition but is not considered as a degenerative illness. Early intervention or management may spell a significant difference in the lives of children affected by it. Caregivers are advised to seek medical consultation as soon as any deterioration in previously-gained milestones or unusual hand/body movements and behavior are noted. With therapy and support, some symptoms of the syndrome may improve and stabilize for many years. Children with Rett syndrome will encounter many challenges, but participating in school and community activities are still possible with the support and love of caregivers (especially parents and other relatives). They may grow well into middle age, and even beyond.