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Rett Syndrome
What you wanted to know and more!
Katie Guernsey RN BSN
Maine Regional Representative - IRSF
Mom to Abby – R168x
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
Gradual fall on growth chart mainly in HC
Unusual hand movements/mouthing
Loss of achieved purposeful hand skill
between- 6 months to 2 years.
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
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
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
 Swollen blue cold feet
 Loss of movement
 Yeah yeah.. They are getting old before
their time the girls look very young for their
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
The International Rett Syndrome Foundation
(IRSF) is a 501 (c) (3) non-profit corporation
established in July 2007.
 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.
If you need to find a specialist you can
call IRSF.
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