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Rett Syndrome

Rett syndrome is a rare inherited disease that causes developmental and nervous system problems, mostly in girls. It's related to autism. Babies with Rett syndrome seem to grow and develop normally at first. Between 3 months and 3 years of age, though, they stop developing and even lose some skills. Symptoms include

Rett syndrome has no cure. You can treat some of the symptoms with medicines, surgery, and physical and speech therapy. Most people with Rett syndrome live into middle age and beyond. They will usually need care throughout their lives.

National Institute of Child Health and Human Development

Rett Syndrome on Wikipedia

Introduction

'''Rett's syndrome''' (Rett syndrome, Rett's disorder) is a progressive neurological disorder, one of the leading disorders of mental retardation in females. The symptoms of this disorder are easily confused with those of autism and cerebral palsy.

Etiology

'''Rett syndrome''' is an X-linked, dominant disorder, caused by a mutation in the gene encoding ''methyl-CpG-binding protein-2'' (MECP2). The Rett gene (symbolized RTT) is found on the chromosome band Xq28, near the long end of the X chromosome. This disorder affects 1 in every 12,500 live births. The combination of an RTT gene-containing X chromosome with the Y chromosome is lethal gene combination, resulting in spontaneous abortion. Males who have two X chromosomes, one with the Rett gene,follow a similar development to women with Rett syndrome.

Development and Symptoms

Infants typically develop normally up to age 6-18 months. Physioneurological development tends to plateau after this brief period of normal development, and is followed by deterioration of high brain functions. Psychomotor and cognitive abilities rapidly decline within 1-2 years of age. Symptoms that develop are autistic-like, with mental retardation and poor growth. It is, hence, easy for the misdiagnosis of Rett for autism, or cerebral palsy. Autistic-like symptoms in Rett disorder: * screaming fits * panic-like attacks * inconsolable crying * avoids looking into other people's eyes * lack of social/emotional reciprocity * general lack of interest * marked impairment of use of nonverbal behaviors to regulate social interaction * delay of linguistic development ** loss of speech Symptoms in Rett that are also present in cerebral palsy: * short stature * slight to severe mental retardation * severe dementia * mild learning disability * hypotonia * gait/movement difficulties * ataxia * microencephalopathy - abnormally small head, lack of head growth * some forms of spasticity ** ...   [ Read More ]


External Resources

RettBASE : MECP2 - Searchable database of known and novel MECP2 disease-causing mutations and polymorphisms. From the International Rett Syndrome Association.

International Rett Syndrome Association - Information about Rett Syndrome and the IRSA.

Rett Angels - Rett Syndrome forum and online support group sharing personal stories and information.

Rett Syndrome Resources - Facts and various information containing links.

Rett Syndrome Association (UK) - The Rett Syndrome Association UK, a registered charity, is dedicated to the support of girls and women, together with their families and carers, suffering from this complex neurological disorder, which affects them throughout their lives. Sufferers are profoundly and multiply disabled.

Rett Syndrome Research Foundation - Promotes biomedical research for the treatment of Rett Syndrome, often misdiagnosed as Autism and Hypotonia. Offers detailed information, links, studies, support groups, and information on the Rett Syndrome gene MECP2 recently discovered.

Rett Syndrome - The Autism Research Institute distributes an information packet on Rett Syndrome.

Rett Syndrome - Diagnostic information, stories and links.

Rett Language - One family's experience with Rett Syndrome, Applied Behavioral Analysis and Discrete Trial Teaching.

Rett Syndrome Fact Sheet - An in depth look at this syndrome prepared by the National Institute of Neurological Disorders and Stroke (NINDS).


Related Pages on HealthTales.com:

Down Syndrome
Down syndrome
Asperger's Syndrome
Behcet's Syndrome
Cushing's Syndrome
Fragile X Syndrome
Klinefelter's Syndrome
Marfan Syndrome
Metabolic Syndrome
Premenstrual Syndrome

Stories:

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