Rett Syndrome Awareness Month What is 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 n Deterioration in developmental milestones, head circumference, overall growth

What is Rett syndrome? n Gait dysfunction -Poor coordination, ataxia n Respiratory irregularity n Early seizures n n Sporadic in 99. 5 % cases; Hereditary factors in 0. 5 % >95% of females have MECP 2 mutations

Stereotypic hand movements • hand-wringing • handwashing/squeezing/clapping/tapping/rubbing • hand-to-mouth • Loss of purposeful hand movements

Management n n No cure for Rett syndrome Symptomatic — focusing on the management of symptoms Supportive, requiring a multidisciplinary approach n Dietitians n Physiotherapists n Occupational, speech, and music therapists n Hydrotherapy/Music therapy/Massage Psychosocial support

GROWTH n n Small stature is typical Deceleration of growth n Head circumference as early as 3 months • n n n Median value at 2 nd 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 n Occurrence variable; from 20 to 80% in different reports n Seizures in 75%, most severe earlier in life n Abnormal EEG in 100% n Truncal ataxia n Dystonia may be prominent with age n Treatment: Anteconvulsants, ketogenic diet for seizures

Communicative and Cognitive Concerns and Treatment n n 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 n Find cause n Treat cause n n ( 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 n Often disrupted; frequent awakenings n Night waking, screaming, laughing n Increased daytime sleep with age; delayed onset of sleep at night n Consider infection (otitis media), hunger, constipation, GE reflux n Treatment: Behavioral modalities, drugs

Breathing Irregularities n n n Hyperventilation, breath holding, forced air expulsion Occur while awake Modified by hunger, agitation, other stress n Typically reach maximum in school years n No specific therapy

Gastrointestinal Issues n Chewing and swallowing often poor n May choke on thin liquids n GE reflux typical n Constipation also common; may require laxative n Good nutrition essential

Osteopenia n Occurs in almost all girls or women n Worse with poor calorie-protein intake n Fractures n Oral calcium , Good nutrition

Orthopedic Abnormalities, Motor Disturbances, and Treatment n n 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 n Overall, ~ 60% remain ambulatory n 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 n 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 n Cardiac conduction may be immature n Prolonged QT interval may be observed n ECG At diagnosis (usually normal) n Cardiology consult

AUTONOMIC NERVOUS SYSTEM n Hands and feet tend to be cold n Does not appear to cause discomfort n No specific treatment available

Bruxism or Teeth grinding n Occurs in almost all n Varies in frequency and intensity n May increase with anxiety or excitement n Efforts to reduce generally unrewarding n Tend to diminish or disappear after school age

Genetic Counseling n X-linked dominant inheritance If parent is a carrier, the risk to sibs of inheriting the mutant MECP 2 allele at conception is 50% n If a mutation is not identified in a parent, the risk to sibs is low (Germline mosaicism ) n

Clinical Trials n Many Clinical trials esp with Dextromethorphan , Donepzil, IGF 1 n Still a definitive treatment is awaited…… www. Rett. Search. org

Indian Rett Support Foundation Thanks