Neurology, Addiction and Psychiatry Conference

Rett Syndrome is another rare neurodevelopmental disorder mostly observed in girls who lose basic motor skills and communication. Such cases are caused by mutations on the MECP2 gene, which has very important roles in brain development. In other words, such mutations lead to disruptions in normal brain functions with severe cognitive, sensory, motor, and autonomic impairments. The disorder typically starts when the child is in his first two years, and over time leads to developmental regression.

Loss of hand activities: The loss of hand activity that is achieved for meaningful purposes is commonly replaced by repetitive hand movements, which may include hand-wringing or clapping. Children with Rett Syndrome have great difficulties with walking and most of them also lose their power to communicate, so making communication an important impairment. Other manifestations include spasmodic breathing, seizures, poor coordination and equilibrium. Rett Syndrome is predominantly a female disorder but only occasionally manifests in males, in which case the disease tends to be more severe.

Disorder stages usually progress with a cycle of some stages. Initially, the child undergoes a normal developmental phase. Afterwards, the child is able to regress by retreating back into the skills that he previously lost. Then comes the plateau phase where symptoms become stabilized and no marked improvement occurs. Finally, there can be further deterioration in a person's physical condition, causing disabling impact on the capacity for mobility.

Though no specific cure for the syndrome has been established, hopeful therapeutic changes have been brought about through active research. Gene therapy is one approach that aims to correct the inherent mutation by restoring normal MECP2 gene functioning. Other treatments include behavioral therapy, occupational therapy, and physical therapy in relation to the management of symptoms and improvement in quality of life. Speech therapy and use of augmentative communication can also aid in the enhancement of communication abilities in patients with Rett Syndrome.

As research continues into the genetic and molecular basis of this disorder, new treatments are emerging that appear to hold better promises for those affected. The best goals for early diagnosis and intervention in Rett Syndrome are maximizing potential developmental gain and reducing as much as possible the impact of the myriad other clinical features on an individual's life.