Taylor Shuda

June 6, 2017
Overview of Special Education
Specific Disabilities Presentation Autism Spectrum Disorders

Rett Syndrome

Definition:
Rhett syndrome is a rare debilitating neurodevelopment disorder that affects the way the brain grows and
develops, leading to physical and mental disability in childhood that mostly affects girls.
It is the leading cause of severe impairment in girls (1:12,000 female births);
Occurs equally in all racial and ethnic groups around the world;
As of 2015, studies suggest a life expectancy for most girls to be at 47 years
Is the only autism spectrum disorder with a known cause; and there is no cure.

Signs & Symptoms:

In early stages, tends to show signs/symptoms like autism.
Development is normal until around 6 -18 months, then development slows down and children begin to
lose use of their hands, slowed brain growth (Statistic: brains of girls with RS tend to be about 30% smaller
than normal) and eventually have problems with muscle coordination (walking)
Other symptoms include: no language/communication skills, breathing problems, unusual eye movements,
agitation and irritability, cognitive disabilities, seizures, irregular heart rate, and pain.

Causes of Rett Syndrome:

Rett syndrome is caused by a single gene mutation (gene MECP2) that leads to underproduction of an
important brain protein. Rarely inherited (less than 1%).
Gene is found on the X chromosome (girls have two X chromosomes and boys only have one), which is why
is affects mainly girls.
When boys develop the Rett syndrome mutation, they rarely live past birth. Boys only have one X
chromosome, so the effects are more serious and can be fatal.

Complications of Rett Syndrome Include:

Muscular: muscle weakness, inability to combine muscle movements, stiff muscles, problems with
coordination
Respiratory: abnormal breathing patterns, episodes of no breathing, rapid breathing, or shallow breathing
Developmental: delayed development or failure to thrive
Behavioral: irritability or repetitive movements
Cognitive: inability to communicate or understand, slowness in activity
Also common: seizures, constipation, drooling, scoliosis, teeth grinding, or tremors

Treatments for Rett Syndrome:

There is no cure for Rett syndrome; but there are some treatments that can help improve symptoms and these
treatments occur for their entire life. Treatments include: standard medical care, medication for movement or
seizures, (anticonvulsant, sedative, laxative, vitiamins), therapies: physical, speech, and occupational, good
nutrition, behavioral therapy, and supportive services.

Sources:
http://www.news-medical.net/health/Causes-of-Rett-Syndrome.aspx
http://healthresearchfunding.org/18-amazing-rett-syndrome-statistics/