Rett Syndrome
Rett Syndrome
Awareness Month
What is Rett syndrome?
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Mostly females; Normal until the age of 6 to
18 months until their development regresses
Psychomotor regression-Communication
dysfunction, loss of learned words, Emerging social
withdrawal, Profound cognitive impairment
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Deterioration in developmental milestones, head
circumference, overall growth
What is Rett syndrome?
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Gait dysfunction -Poor coordination,
ataxia
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Respiratory irregularity
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Early seizures
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Sporadic in 99.5 % cases; Hereditary
factors in 0.5 %
>95% of females have MECP2 mutations
Stereotypic hand
movements
• hand-wringing
• handwashing/squeezing/clapping/tapping/rubbing
• hand-to-mouth
• Loss of purposeful hand movements
Management
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No cure for Rett syndrome
Symptomatic — focusing on the management of
symptoms
Supportive, requiring a multidisciplinary
approach
 Dietitians
 Physiotherapists
 Occupational, speech, and music therapists
 Hydrotherapy/Music therapy/Massage
Psychosocial support
GROWTH
Small stature is typical
Deceleration of growth
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Head circumference as early as 3 months
•
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Median value at 2nd percentile by age 2 years
Weight as early as 8 months
Length as early as 12-14 months
Hands and feet small; feet relatively
smaller than hands
Neurologic Abnormalities and
Treatment
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Occurrence variable; from 20 to 80% in
different reports
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Seizures in 75%, most severe earlier in life
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Abnormal EEG in 100%
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Truncal ataxia
 Dystonia may be prominent with age
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Treatment: Anteconvulsants, ketogenic diet
for seizures
Communicative and Cognitive
Concerns and Treatment
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Babbling, single words by 10-12 months;
lose verbalization by 18 months
More quiet, improved eye contact with
time
Happy disposition
Treatment: Speech/language therapy,
music therapy
Management of Agitation
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Find cause
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Treat cause
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( reflux, constipation, infections, gall
stones, seizures, headache, fractures, change of
school or placement, abuse )
Use frequent snacks, music, massage,
warm baths
Medications
Sleep Disturbances and
Treatment
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Often disrupted; frequent awakenings
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Night waking, screaming, laughing
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Increased daytime sleep with age; delayed
onset of sleep at night
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Consider infection (otitis media), hunger,
constipation, GE reflux
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Treatment: Behavioral modalities, drugs
Breathing Irregularities
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Hyperventilation, breath holding, forced
air expulsion
Occur while awake
Modified by hunger, agitation, other
stress
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Typically reach maximum in school years
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No specific therapy
Gastrointestinal Issues
Chewing and swallowing often poor
May choke on thin liquids
GE reflux typical
Constipation also common; may require
laxative
Good nutrition essential
Osteopenia
Occurs in almost all girls or women
Worse with poor calorie-protein
intake
Fractures
Oral calcium , Good nutrition
Orthopedic Abnormalities, Motor
Disturbances, and Treatment
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Early truncal ataxia,Legs abducted
Hypotonic early; hyperreflexive and rigid
later
Scoliosis (64%)-Usually apparent by age 8
years
Treatment: Brace/surgery for scoliosis,
orthopedic and intensive physical therapy,
special computers and toys
Ambulation
Overall, ~ 60% remain ambulatory
 Orthotic devices may be needed for toe
walking
Great effort should be exerted to
maintain ambulation
Standing frames, walkers, or parallel
bars should be used at home and school
for those who do not walk
Sexual Maturation
Puberty acquired at ages similar to peers
Menstrual cycles usually predictably
regular after puberty well-established
A variety of strategies available to
manage menstrual cycles
Cardiac conduction system
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Cardiac conduction may be immature
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Prolonged QT interval may be observed
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ECG At diagnosis (usually normal)
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Cardiology consult
AUTONOMIC NERVOUS
SYSTEM
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Hands and feet tend to be cold
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Does not appear to cause discomfort
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No specific treatment available
Bruxism or Teeth grinding
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Occurs in almost all
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Varies in frequency and intensity
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May increase with anxiety or excitement
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Efforts to reduce generally unrewarding
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Tend to diminish or disappear after
school age
Genetic Counseling
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X-linked dominant inheritance
If parent is a carrier, the risk to
sibs of inheriting the mutant MECP2
allele at conception is 50%
If a mutation is not identified in a
parent, the risk to sibs is low
(Germline mosaicism )
Clinical Trials
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Many Clinical trials esp with
Dextromethorphan , Donepzil, IGF 1
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Still a definitive treatment is awaited……
www.RettSearch.org
Indian Rett Support
Foundation
Thanks