Rett Syndrome Rett Syndrome Awareness Month. Mostly females; Normal until the age of 6 to 18 months...

Rett Syndrome

Rett Syndrome Awareness Month

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

What is Rett syndrome?

Stereotypic hand movements

• hand-wringing

•

handwashing/squeezing/clapping/tapping/rubbi

ng

• 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