Rett Syndrome ppt
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Rett Syndrome
Rett Syndrome
Awareness Month
What is Rett syndrome?
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
Deterioration in developmental milestones, head
circumference, overall growth
What is Rett syndrome?
Gait dysfunction -Poor coordination,
ataxia
Respiratory irregularity
Early seizures
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
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
Head circumference as early as 3 months
•
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
Occurrence variable; from 20 to 80% in
different reports
Seizures in 75%, most severe earlier in life
Abnormal EEG in 100%
Truncal ataxia
Dystonia may be prominent with age
Treatment: Anteconvulsants, ketogenic diet
for seizures
Communicative and Cognitive
Concerns and Treatment
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
Find cause
Treat cause
( 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
Often disrupted; frequent awakenings
Night waking, screaming, laughing
Increased daytime sleep with age; delayed
onset of sleep at night
Consider infection (otitis media), hunger,
constipation, GE reflux
Treatment: Behavioral modalities, drugs
Breathing Irregularities
Hyperventilation, breath holding, forced
air expulsion
Occur while awake
Modified by hunger, agitation, other
stress
Typically reach maximum in school years
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
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
Cardiac conduction may be immature
Prolonged QT interval may be observed
ECG At diagnosis (usually normal)
Cardiology consult
AUTONOMIC NERVOUS
SYSTEM
Hands and feet tend to be cold
Does not appear to cause discomfort
No specific treatment available
Bruxism or Teeth grinding
Occurs in almost all
Varies in frequency and intensity
May increase with anxiety or excitement
Efforts to reduce generally unrewarding
Tend to diminish or disappear after
school age
Genetic Counseling
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
Many Clinical trials esp with
Dextromethorphan , Donepzil, IGF 1
Still a definitive treatment is awaited……
www.RettSearch.org
Indian Rett Support
Foundation
Thanks