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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
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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 ( reflux, constipation, infections, gall stones, seizures, headache, fractures, change of school or placement, abuse ) • Treat cause • 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
Thanks Indian Rett Support Foundation