What is Rett syndrome?
Rett syndrome. Print. Rett syndrome is a rare genetic neurological and developmental disorder that affects the way the brain develops, causing a progressive loss of motor skills and speech. This disorder primarily affects girls.
What is the prognosis for boys with Rett syndrome?
A very small number of boys have a different mutation that results in a less destructive form of Rett syndrome. Similar to girls with Rett syndrome, these boys will likely live to adulthood, but they’re still at risk of a number of intellectual and developmental problems. Rett syndrome is rare.
What are the symptoms of Stage 3 Rett syndrome?
Symptoms of Rett syndrome occur, such as slowed head growth, abnormal hand movements, hyperventilating, screaming or crying for no apparent reason, problems with movement and coordination, and a loss of social interaction and communication. Stage III: plateau.
What are the treatment options for Rett syndrome?
Treatment of Rett syndrome includes: management of gastrointestinal (reflux, constipation) and nutritional (poor weight gain) issues. surveillance of scoliosis. surveillance of long QT syndrome by annual EKG. increasing the patient’s communication skills, especially with augmentative communication strategies.
Jump to navigation Jump to search. Rett syndrome (RTT) is a genetic brain disorder that typically becomes apparent after 6 to 18 months of age in females. Symptoms include problems with language, coordination, and repetitive movements. Often there is slower growth, problems walking, and a smaller head size.
What is the Rett-related disorders consortium?
The Rett Syndrome, MECP2 Duplications, & Rett-related Disorders Consortium is an integrated group of academic medical centers, patient support organizations, and clinical research resources dedicated to conducting clinical research into three disorders of the nervous system: Rett syndrome (RTT), MECP2 duplication disorder and RTT-related disorders.
Are people with useful speech after regression mutation-positive Rett syndrome?
Background: People with useful speech after regression constitute a distinct group of those with mutation-positive Rett disorder, 6% (20/331) reported among mutation-positive people in the British Survey. We aimed to determine the physical, mental and genetic characteristics of this group and to gain insight into their experience of Rett syndrome.