2. oNeurodevelopment disorder
oappearing in girls during infancy and early
childhood
omutations in the methyl-CpG-binding protein 2
(MECP2) gene
olose skills such as the ability to crawl, walk,
communicate or use their hands
3. Genetic Basis
oIt is an x-linked dominant genetic disorder
oIt is largely sporadic
oMore than 95% of females meeting RS consensus criteria will
have mutations
oIn MECP2. MECP2, located at xq28
oThe mutation appears to result in problems with the protein
production critical for brain development.
4. Symptoms
oMicrocephaly
oLoss of normal movement
and coordination
oLoss of communication
abilities
oAbnormal hand
movements
oUnusual eye movements
oBreathing problems
oCognitive disabilities
oSeizures
oAbnormal curvature of the
spine
oIrregular heartbeat
oPain
5. Stage 1: early
onset.
Stage 2: rapid
destruction
Stage 3: plateau
Stage 4: late motor
deterioration
Stages of Rett
syndrome
6. Stage 1o early onset.
o starts between 6 and 18 months of age
o can last for a few months or a year.
o Babies show less eye contact and start to lose
interest in toys.
o They may also have delays in sitting or
crawling.
7. Stage 2o rapid destruction
oStarting between 1 and 4 years of age, children lose
the ability to perform skills they had earlier.
oSymptoms occur, such as slowed head growth,
abnormal hand movements, hyperventilating,
screaming or crying, problems with movement and
coordination, and a loss of social interaction and
communication.
8. o Between the ages of 2 and 10 years and can last for
many years.
o Problems with movement continue, behavior may
have limited improvement, with less crying and
irritability, and some improvement in hand use and
communication.
o Seizures may begin
Stage 3
9. Stage 4
obegins after the age of 10 and can last for years or
decades.
oIt's marked by reduced mobility, muscle weakness,
joint contractures and scoliosis.
oUnderstanding, communication and hand skills
generally remain stable or improve slightly, and
seizures may occur less often.
10. Diagnosis
o Physical exam and detailed information about the
child’s development and medical history.
o Genetic DNA blood test to support the diagnosis
o CT scan, MRI scan
o Electroencephalograms
11. Criteria for diagnosis
The guidelines for diagnosing Rett syndrome are divided
into three types:
Essential
Exclusion
Supportive
12. Essential criteria
o A period of normal development until between 6
to 18 months followed by a loss of skills, then
recovery or stabilization of skills
o Partial or complete loss of purposeful hand skills
o Partial or complete loss of spoken language
o Dyspraxic gait
o Repetitive hand
13. Supportive criteria
obreathing irregularities while awake, such as apnea,
hyperventilation and air swallowing
oteeth-grinding
oabnormal sleep patterns
oabnormal muscle tone (hypotonia, rigidity or
spasticity)
14. oscoliosis or kyphosis (curvature of the spine)
odelayed growth
osmall hands and feet
oinappropriate laughing or screaming spells
oreduced response to pain
ointense eye communication or “eye pointing”
opoor circulation in the hands and feet, with cold and
bluish to red hands and feet
15. Exclusion criteria
o a neurometabolic disease or other inherited
degenerative disorder
o a neurological disorder resulting from severe infection
or head trauma
o evidence of brain damage acquired after birth
o grossly abnormal development in the first six months
of life
16. Treatment
There is no currently targeted treatment or gene therapy
oPhysical therapy
oOccupational therapy
oSpeech-language therapy
oNutritional support
oBehavioral intervention
oSupport services
Supportive
care
