Index Rett Syndrome
What is Rett syndrome?
Rett syndrome is a developmental disorder. It almost always affects girls. Like autism, Rett syndrome is termed a pervasive developmental disorder, which means that a child who has it fails to develop normally in a number of areas. The development of a child with Rett’s appears normal at birth and for the first 6 months of life. The disorder occurs in about 6 of every 100,000 girls.
How does it occur?
Rett syndrome is caused by problems with the MECP2 gene. Because of the damage to this gene, some parts of the brain tend to be smaller than normal in girls with Rett syndrome.
What are the symptoms?
Rett syndrome develops in stages. From birth to about 6 months of age, the development and head size of a child with Rett’s appear normal. Between 6 to 18 months of age, symptoms include:
- the child’s head growth becomes slowed
- loss of acquired hand skills
- development of hand movements that look like hand washing or hand wringing
- loss of desire to interact with others
- development of jerky body movements and an abnormal gait
- severe problems speaking or understanding what others say
- very fast breathing or stopping breathing for short periods
- severe mental retardation
How is it diagnosed?
The healthcare provider will examine the child and ask about her symptoms and medical history. The provider may order some tests. These tests may include a CT scan, which produces images of the brain, and blood tests to rule out other medical conditions. The provider may refer your child to a psychologist or other mental health professional for tests of overall intelligence and emotional development.
How is it treated?
A treatment plan for Rett syndrome may include medicine for some of the symptoms and physical and speech therapy to improve skills.
In many cases, families are unable to care for a child with Rett syndrome without help. In some cases, home healthcare may enable the child to keep living at home. In other cases, the child may be placed in a supervised living facility. Family counseling may help caregivers cope with the child’s disorder.
How long do the effects last?
Rett syndrome is a lifelong, disabling condition. Most women with Rett syndrome require a wheelchair and most live at least into their 40s.
What can I do to help my child?
Learn as much as you can about Rett syndrome. For more information, contact the International Rett Syndrome Foundation at http://www.rettsyndrome.org/ or by calling 800-818-7388.
Written by Psychiatric Professional Services, Inc. Published by RelayHealth.
Last modified: 2010-12-06
Last reviewed: 2010-12-02 This content is reviewed periodically and is subject to change as new health information becomes available. The information is intended to inform and educate and is not a replacement for medical evaluation, advice, diagnosis or treatment by a healthcare professional. References
Pediatric Advisor 2011.4 Index
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