RTT

Rett Syndrome (RTT) is a rare genetic neurological disorder that primarily affects females and is often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay. RTT leads to severe impairments, affecting nearly every aspect of the patient's life: their ability to speak, walk, eat, and even breathe easily. The hallmark of RTT is near normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability.

Etiology

RTT is mainly caused by mutations in the MECP2 gene, which is found on the X chromosome. This gene codes for methyl-CpG-binding protein 2, crucial for brain development and functioning. The disorder is genetic but not usually inherited; it typically occurs as a spontaneous mutation. Rare cases involve mutations in the CDKL5 and FOXG1 genes.

Symptoms

The symptoms of RTT can be divided into four stages:

1. Early Onset – The initial phase, starting between 6 and 18 months of age, is characterized by subtle slowing of development and often overlooked. 2. Rapid Destructive – Between ages 1 and 4, children experience a rapid decline in motor and language skills. Purposeful hand use is lost, and stereotypic hand movements such as wringing or washing emerge. 3. Plateau – The decline in abilities slows, and some improvements in behavior may occur. This stage usually begins between ages 2 and 10. 4. Late Motor Deterioration – In later years, mobility decreases, and muscle problems, scoliosis, and weakness may increase.

Diagnosis

Diagnosis of RTT involves a careful review of the child's medical history and a thorough clinical examination. Genetic testing can confirm the presence of a MECP2 mutation, although a small percentage of individuals with RTT do not have mutations in this gene.

Treatment

There is no cure for RTT. Treatment focuses on managing symptoms and providing support. This may include physical therapy, speech therapy, medication for seizures, and nutritional support. Special equipment and schooling may also be necessary to support the individual's development.

Prognosis

The prognosis for individuals with RTT varies. Most live into adulthood, but their life expectancy is reduced. The quality of life can be significantly improved with appropriate care and therapies.

Research

Research into RTT is ongoing, with studies focusing on understanding the genetic causes, developing treatments to manage symptoms, and ultimately finding a cure. Gene therapy and neurohabilitation are areas of particular interest.