Rett Syndrome What you wanted to know and more! By Katie Guernsey RN BSN Maine Regional Representative - IRSF AND Mom to Abby – R168x

Objectives: At the end of this presentation the listener will be able to : Know how to identify Rett Syndrome Current Research and Development reaching for a cure for Rett Syndrome Know where parents/caregivers of a Rett Syndrome child can gain knowledge and support for the new or existing diagnosis.

What is Rett Syndrome? Rett Syndrome (RTT) is a unique developmental neurological disorder. RTT is a developmental disorder. It is NOT a degenerative disorder. RTT has been most often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay. RTT is caused by mutations on the X chromosome on a gene called MeCP2. RTT strikes all racial and ethnic groups and occurs worldwide in 1 of every 10,000 to 23,000 female births.

Diagnostic Criteria For RTT Seemingly normal prenatal history Psychomotor development normal through the first 6 months but could be delayed from birth. Gradual fall on growth chart mainly in HC Unusual hand movements/mouthing Loss of achieved purposeful hand skill between- 6 months to 2 years. Withdrawal May be onset of seizures Screaming without reason Impaired locomotion

Don’t forget while you are doing all the other blood tests, and I know you will….. Test for MeCP2 On all girls (and boys) that you may suspect of having RTT. BUT they do not have to test positive to have RTT.

Supportive Criteria Sleep disturbances Teeth grinding Hypotonia Cold hands and feet Scoliosis/kyphosis Growth retardation Small hands and feet

Exclusion Criteria Enlarged organs Evidence of brain damage before or after birth Existence of identifiable metabolic or other progressive neurologic disorder Acquired neurological disorder resulting from head trauma or infection

The Four Stages of Rett Syndrome

Stage 1 Birth-18 months Often overlooked Child floppy Poor suck Not all kids develop the same Described as a “good baby” Lasts few months to a year

Stage 2: Aka regression Usually begins 1-4 years General decline in development Loss of acquired skills Can be rapid or more gradual Hand skills are lost Hand stereotypes begin Spoken language is lost Breathing patterns can change Lack of imaginative play is seen Sleep changes emerge Inappropriate laughing or crying spells Lasts weeks to months

Stage 3 (longest stage) Usually begins 2-10 years Regression is now over “stable” period Apraxia, motor problems and scoliosis along with seizures are beginning to be more of issue Fewer autistic features better eye contact and attention span Lasts most of their lifetime

Stage 4 Puberty Swollen blue cold feet Loss of movement Yeah yeah.. They are getting old before their time the girls look very young for their age

Interesting new Research Since the identification of the MeCP2 gene in 1999, research in RTT has made important advances Numerous target genes have been identified that are regulated by the MeCP2 protein Animal models have been developed that reproduce the disease and demonstrate the potential to reverse RTT!

IRSF The International Rett Syndrome Foundation (IRSF) is a 501 (c) (3) non-profit corporation established in July IRSF is the largest private source of funds for biomedical and clinical research on RTT IRSF believes the fastest way to a cure and treatment includes making significant and strategic investments in Research while bolstering Family Support, Public Awareness, and Advocacy Programs. IRSF maintains not only a database of individuals with RTT, but also of physician familiar with the disorder.

So what does all that mean… If you have a patient with Rett Syndrome that needs information, support, kindness or another mother or family to talk to call IRSF. OR If you need to find a specialist you can call IRSF RETT

Abby’s Story Atypical RTT Mucus/up crying all night Got the all kids develop different Neuro #1 Neuro #2 Dx 2 ½ Bitter sweet Seizures Vns Sibling Marriage Travel listen