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Rett Syndrome

Rett Syndrome is a rare genetic disorder that affects brain development in girls. It is caused by mutations in the MECP2 gene and occurs in about 1 in 10,000 female births. Symptoms begin between 6-18 months as infants lose coordination, speech, and hand skills. They experience issues with motor skills, breathing, cognition and develop repetitive movements. While there is no cure, therapies can help improve quality of life.

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34 views10 pages

Rett Syndrome

Rett Syndrome is a rare genetic disorder that affects brain development in girls. It is caused by mutations in the MECP2 gene and occurs in about 1 in 10,000 female births. Symptoms begin between 6-18 months as infants lose coordination, speech, and hand skills. They experience issues with motor skills, breathing, cognition and develop repetitive movements. While there is no cure, therapies can help improve quality of life.

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© © All Rights Reserved
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Rett Syndrome

Blythe Carrier-Hagerman

Facts
Rare genetic mutation affecting brain development in girls
Extremely rare
1,000 cases per year in the United States
Cant be cured
Chronic
Can last a lifetime or a few years
Unique postnatal neurological disorder that is first seen in infant
girls, can be rarely seen in boys

Facts
Occurs in 1 of every 10,000 female births
Can be confirmed with a simple blood test to identify the MECP2
mutation
however MECP2 is seen in other disorders so the presence of the
mutation in this gene is not enough to diagnose MECP2
Can be misdiagnosed as autism, cerebral palsy, or nonspecific
developmental delay
Severity of Rett depends on location, type, and severity of the
mutation

MECP2( Methyl CpG Binding Protein 2)


Function
transcriptional repressor and activator
Found in high concentrations in neurons and is associated with
maturation of the CNS and in forming the synaptic contacts
Essential for the normal function of nerve cells
The protein is important for mature nerve cells, where it is present in
high levels

Symptoms
Infants seem healthy during the first six months but over time they
lose coordination, speech, and use of hands.
Muscular
Inability to combine muscle movements, muscle weakness
Respiratory
Abnormal breathing patterns, episodes of no breathing, rapid or
shallow breathing
Cognitive

Symptoms
Developmental
Delayed development or failure to thrive
Behavioral
irritability or repetitive movements
They will also experience seizures, constipation, drooling, teeth
grinding, tremor, or scoliosis

Treatments
Some doctors may prescribe Zolpidem, Carbamazepine,Folic Acid,
Valproic Acid
Gastrostomy- feeding device is inserted through an opening in the
abdomen. Allows food to bypass the mouth and throat and straight
to the stomach.
Speech Therapy, Occupational Therapy, Physical Therapy
With enough therapy a person with Rett Syndrome can have a semi
normal life

Males and Rett Syndrome


Males have a different chromosome combination
Males who do develop Rett Syndrome are affected in devastating
ways
Most die before birth or in infancy
A few number of boys have a form of Rett Syndrome that is not fatal
and is more similar to the type that females have
Still at risk for developmental and intellectual problems

Sources
http://www.mayoclinic.org/diseases-conditions/rett-syndrome/basics/de
finition/con-20028086
https://www.rettsyndrome.org/
http://www.ninds.nih.gov/disorders/rett/detail_rett.htm

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