Rett syndrome is an uncommon and severe neurological disorder affecting predominantly females. It is a genetic disorder that typically manifests in early infancy, between 6 and 18 months.
After a period of ostensibly normal development during infancy, Rett syndrome is characterized by a regression of acquired skills, including motor skills and communication abilities.
Here are some important characteristics and features of Rett syndrome:
- One of the defining characteristics of Rett syndrome is the loss of previously acquired skills. Frequently, children with Rett syndrome begin to demonstrate indicators of developmental regression, such as the loss of purposeful hand skills, speech, and social engagement.
- Hand-wringing and repetitive movements: People with Rett syndrome frequently engage in repetitive hand movements such as hand-wringing, clapping, and striking. These movements can be a conspicuous characteristic of the disorder.
- Loss of motor control: Affected individuals may experience a loss of motor control and coordination, resulting in difficulties with activities such as walking and maintaining their equilibrium.
- Numerous individuals with Rett syndrome develop abnormal respiratory patterns, such as hyperventilation, breath-holding, and apnea (brief pauses in breathing).
- Individuals with Rett syndrome may struggle with social interaction, communication, and relationship formation. They frequently have difficulty making eye contact and display autistic-like behaviors.
- Seizures: Seizures are prevalent in Rett syndrome and can differ in frequency and severity among those affected.
- Growth and development issues: Individuals with Rett syndrome may experience growth issues, including delayed growth and head growth.
- Rett syndrome is typically caused by mutations in the MECP2 gene on the X chromosome. As it predominately affects females, this disorder is X-linked. In rare instances, other gene mutations can also cause Rett-like symptoms.
Rett syndrome is a condition that lasts a lifetime and requires continuous medical and therapeutic treatment. There is currently no cure for Rett syndrome; however, various therapies and interventions, such as physical therapy, occupational therapy, and speech therapy, can help manage symptoms and enhance the quality of life for those affected. Early diagnosis and intervention are essential for optimizing outcomes and supporting affected individuals and their families.