Rett syndrome is a neurological disorder caused by a mutation in the MECP2 gene, found on the X chromosome. This rare condition primarily affects girls, and unfortunately, there is currently no cure. However, with proper management and early detection, the challenges associated with Rett syndrome can be better addressed for both the affected child and their family. Individuals with Rett syndrome require lifelong care and support.
The symptoms of Rett syndrome often resemble those of severe autism. It is crucial to distinguish between these two conditions to ensure an accurate diagnosis. Here are ten common symptoms observed in individuals with Rett syndrome:
Delayed Development
Recognizing the onset of Rett syndrome is crucial, as symptoms usually begin to manifest around 6 months of age. Prior to this, affected babies appear to be healthy and exhibit typical developmental patterns. However, it is typically within the first two years of a child’s life that Rett syndrome is diagnosed. The progression of symptoms can vary, with some individuals experiencing a gradual decline while others may experience a sudden onset. As the child grows older, their stunted growth becomes more apparent. Those affected by Rett syndrome tend to have a shorter stature and lower body weight than their peers.
Microcephaly: When the Brain Doesn’t Grow Properly
Microcephaly, also known as small head, occurs when a baby’s brain fails to grow at a normal rate, resulting in a smaller head size. Pediatricians typically monitor head measurements until children reach the age of 2 or 3. If a child’s head size falls below the average range, they are diagnosed with microcephaly. Various factors contribute to this condition in infants.
One possible cause of microcephaly is a protein mutation associated with Rett syndrome. This genetic mutation affects the development of the brain and nervous system, leading to impaired brain growth. Consequently, children with Rett syndrome may experience delayed physical and cognitive development.