Rett syndrome is a brain development disorder that affects mostly girls. In most cases, a change in a gene called MECP2 causes Rett syndrome.
Girls with Rett syndrome appear normal when born and as young infants. At around 6 to 18 months old, their learning slows down and they begin to lose language and motor skills.
Edinburgh Scientists probing a rare type of autism believe the "biological mechanism" behind the disorder may be simpler than was previously thought.
Rett syndrome was identified by Dr. Andreas Rett, an Austrian doctor who first described it in an article in 1966. However, it was not until after a second article about the disorder was published in 1983 that the disorder was generally recognized.
Rett Syndrome occurs in 1 out of 23,000 live births. The onset is baffling: A healthy, active infant gradually stops developing normally. Typically, she regresses, losing her speech and walking skills, as well as the ability to play with toys. Repetitive hand-wringing and hand-washing movements are common, as are breathing abnormalities. Growth failure and muscle wasting may occur as early as 1 year of age. Motil and others have done studies suggesting this poor growth and wasting may be linked in part to the girls' need for special nutritional care.
A paper published online in Nature describes the results of using bone marrow transplant (BMT) to replace faulty immune system cells in models of Rett Syndrome. The procedure arrested many severe symptoms of the childhood disorder, including abnormal breathing and movement, and significantly extended the lifespan of Rett mouse models.
Development is normal until 6-18 months, when language and motor milestones regress, purposeful hand use is lost and acquired microcephaly is seen.
Hand-wringing and sighing are characteristic, and those affected develop autistic behavior.
Supplemental feedings can help those with slowed growth. A feeding tube may be needed if the patient breathes in (aspirates) food. Diets high in calories and fat, as well as nasogastric tube feeds, can help increase weight and height. Weight gain may improve alertness and social interactions.
Mutations in a gene called MECP2 (methyl-CpG-binding protein 2) were identified as the cause of Rett Syndrome in 1999, in the laboratory of Huda Zoghbi, M.D. at Baylor College of Medicine. First discovered by Adrian Bird, Ph.D., in 1990, MECP2 produces a multi-functional protein, also called MeCP2, which regulates the activity of a host of other genes crucial to normal development.
A long-running energy deficit may play a role in the hampered nutrition and growth caused by Rett Syndrome, according to studies by a pediatrician with the Children’s Nutrition Research Center in Houston, Texas. Rett Syndrome, a debilitating disorder that strikes only girls, causes mental retardation and growth failure. There is no cure.
A person with Rett syndrome can benefit from physical and occupational therapy to improve muscle coordination and rigidity and provide more purpose to hand and body movements. The therapy can relieve joint contracture, improve balance, build flexibility and help maintain an ability to walk. The therapy can also help an affected person gain some level of independence in caring for themselves.