Rett Syndrome

By: Cecilia, Stephanie and Elena

 What Causes Rett Syndrome?

● Rett syndrome is a postnatal genetic neurological disorder (Neurodevelopmental

disorder) that occurs primarily in girls and rarely in boys.
● Rett syndrome is caused by mutations on the X chromosome on a gene called MECP2.
● Rett syndrome occurs worldwide in 1 of every 10,000 female births, and is even rarer in
boys.
● Rett syndrome is usually recognized in children between 6 to 18 months as they begin
to miss developmental milestones or lose abilities they had gained.
 Rett syndrome in females vs Males
Although it is rare for males to develop Rett syndrome due to the fact that it is
caused by a mutations of the MECP2 gene on the X chromosome, it is possible for
this to occur.

The symptoms for both females and males can range from mild to severe depending on
the severity of the mutation, both females and males may present similar deficits
due to rett syndrome such as ataxia, uncontrolled hand movements, slowed head growth
(acquired microcephaly), develop autistic-like behaviors, breathing irregularities,
feeding and swallowing difficulties, growth retardation, and seizures.

Since males only have one X chromosome, the disorders are usually fully expressed.
As a result of this, it is believed that in most cases MECP2 mutations are not
compatible with life in males, usually resulting in miscarriage or stillbirth.
Variations of Rett Syndrome
There are two main types of Rett syndrome which are classified as classic and
atypical. The majority of Rett syndrome patients have the classic form, which
usually develops in four phases:

1. Early onset phase:Development delays or stops completely.

2. Rapid destructive phase: Child loses skills quickly. Purposeful hand movements
and speech are usually the first skills lost. Breathing problems,feeding and
swallowing difficulties and stereotypic hand movements such as clasping,
squeezing, tapping,

3. Plateau phase: The child's regression slows and other problems may see to
lessen, may have improvement in some areas. Seizures are common at this stage.
Many individuals spend most of their lives in this stage.

4. Late motor deterioration phase: Individuals in this stage may become stiff or
lose muscle tone, some may even become immmobile.
Continued...
There are currently five known variants of the atypical Rett
syndrome.These variations are categorized by characteristics
symptoms, age at which symptoms present, or genetic makeup.
Variants of atypical Rett syndrome:

● Congenital Rett syndrome

● Early Onset syndrome
● Late childhood Rett Syndrome
● Forme-Fruste Rett Syndrome.
● Preserved- speech variant of Rett syndrome
 How is diagnosis determined?
● Rett syndrome is confirmed with a blood test to identify the MECP2 mutation.
However, since the MECP2 mutation is also seen in other disorders, a Rett
syndrome (RTT) diagnosis requires the presence of the MECP2 mutation or
meeting aspects of the diagnostic criteria.
● Main criteria for Rett syndrome:

-Partial or complete loss of acquired purposeful hand skills

-Gait abnormalities: impaired or absence of ability to walk

-Hand wringing/squeezing/clapping/tapping, mouthing, and washing/rubbing

uncontrollably (stereotypical of Rett syndrome)
Similar diagnoses
Due to a wide variety of symptoms and symptom severity, Rett
Syndrome can often be misdiagnosed as autism, cerebral
palsy, or non-specific developmental delay by a health
professional who may not be familiar with Rett.
 Medical INterventions
-There are no medications to cure Rett syndrome, but medications
can be used to help control some signs and symptoms associated
with the disorder, such as seizures, muscle stiffness, or problems
with breathing, sleep, the gastrointestinal tract or the heart.

-PT to help maintain movement, create a proper sitting position,

and improve walking skills, balance and flexibility. Assistive
devices may be helpful.

-OT to improve purposeful use of the hands for activities such as

dressing and feeding. splints that restrict elbow or wrist motion
may be helpful

-Speech therapy to teach nonverbal ways of communicating and

helping with social interaction.
Impairment of body function and structure
● Neurological
○ Rett syndrome is a rare genetic neurological and
developmental disorder that affects the way the
brain develops, causing a progressive loss of
motor skills and speech.
● Musculoskeletal
○ Some children may never be able to walk, whereas
others may gradually lose the ability. Patients
may also experience increasing muscle weakness,
joint contractures, and spasticity that results
in slow, stiff movements of the legs.
● Gastrointestinal
○ The three most common gastrointestinal problems
include: Constipation, Gastroesophageal reflux
disease(GERD), and abdominal bloating.
Constipation occurs.
Continued...
● Cardiac
○ The changes to the autonomic nervous system are thought
to remodel the functioning of the potassium and sodium
channels in the heart tissue, contributing to prolonged
QT interval, T-wave abnormalities, and cardiac
arrhythmias.
● Pulmonary
○ Breathing disturbances are a major challenge, and are
more pronounced during wakefulness; but irregular
breathing occurs also during sleep. During the day
patients may experience short periods of intense
hypoventilation, & irregular hyperventilation
Physical Therapy for Rett syndrome
Due to the versatility of Rett syndrome in different
patients, a thorough evaluation should be performed with
each child entering an intervention program. An intervention
program should then be drawn up, specifically tailored for
each client. In many cases, a child with RS will be treated
by a team of therapists from different fields such as
physical therapy, occupational therapy, speech therapy,
music therapy, hydrotherapy, and hippotherapy (horseback
riding). Each of the disciplines involved in the therapeutic
program uses a combination of different techniques intended
to maintain and maximize function of the individual with RTT
Activity limitations and interventions
● Walking
○ Surgery, physiotherapy, orthoses- prevent muscle contracture and
joint stiffness, allow independent mobility, and possibly walking
again.
● Hydrotherapy
○ Stereotypic hand movements decreased, feeding activities and hand
skills increased, walking balance improved,interaction with
environment intensified, and hyperactivity and anxiety decreased.
● Music Therapy
○ Adding music to therapy sessions has been shown to improve purposive
hand use,show some degree of mental and physical development, and
development of language comprehension.
Therapy cont.
While these therapies don’t cure RS, they can help the
patient by lessening the difficulties experienced by RS,
thus helping the individual with RS and their family to cope
with the previously mentioned limitations.It’s also
important to understand that each individual with RS has
limits of achievement that are determined by their
underlying neurological situation. Therefore, the physical
therapist should advise parents regarding what’s reasonable
to expect from a child or adult with RS.
WHAT TO CONSIDER AS A THERAPIST
● Pace yourself
○ Patients with RS tend to be afraid of external facilitation of
movement and will tend to tense up and not want to participate in
therapy, it’s best to gain basic trust with them before continuing on
with the session
● Apply caution
○ individuals with RS have been reported to have low bone mineral
density (i.e., “fragile bones”) and a delayed reaction to pain, due
to high pain threshold or long reaction time to pain. For this
reason, the therapist might not be aware if the child is in pain.
What to consider cont.
● Be flexible
○ The progression of RS has a tendency towards dynamic fluctuations.
During one week, the child may walk and constantly advance in her
ambulation abilities and by the next week, she might refuse to even
stand on her feet. The attentive physical therapist should be
flexible and flow with the unexplained changes, updating the goals to
address new issues, while constantly evaluating the child’s state and
abilities as well as trying to maximize them.

● Keep a routine
○ Due to the difficulty of some individuals with RS to adjust to
changes in routine, it is advised to keep the structure of the
intervention stable. When changes are due, inform the child in
advance and gradually implement the planned adjustments.
 Prognosis
1. Children with Rett syndrome experience
regression or loss of previously acquired
skills during infancy, often noticed at 6 to 18
months. They often lose their ability to walk
and communicate and may experience breathing
difficulties, cardiac issues, swallowing and
digestion abnormalities, scoliosis and
seizures.
2. On average, most individuals with the condition
survive into their 40s or 50s
3. Psychosocial aspects include: Behavioral and
emotional problems, including episodes of
anxiety, low mood, and self-injurious behavior
Continued….
● Infants with RTT show subtle deficits in motor
skills, such as a low diversity of spontaneous
movements and jerky movements, impairments in fine
movements of the face, arms, and hands, and arm
tremors.
● Adolescence and puberty are not affected by Rett
syndrome. Signs of puberty can appear prematurely,
as early as 7 or 8, but true puberty generally
occurs around the same time as their typical peers.
● Although many young women with Rett Syndrome survive
through adulthood with relative good quality of
life, breathing problems, digestion problems, spinal
curvature and seizures are common. Contrary to what
some may believe, many people with Rett syndrome can
and do walk.
 References
1. About Rett Syndrome. (2020, August 27). https://www.rettsyndrome.org/about-rett-syndrome/.

2. Mayo Foundation for Medical Education and Research. (2018, October 11). Rett syndrome. Mayo Clinic.
https://www.mayoclinic.org/diseases-conditions/rett-syndrome/diagnosis-treatment/drc-20377233.

3. Rett Syndrome. NORD (National Organization for Rare Disorders). (2020, October 29).
https://rarediseases.org/rare-diseases/rett-syndrome/.

4. U.S. Department of Health and Human Services. (2016). What are the types & phases of Rett syndrome? Eunice
Kennedy Shriver National Institute of Child Health and Human Development.
https://www.nichd.nih.gov/health/topics/rett/conditioninfo/types.

5. Fonzo, M., Sirico, F., & Corrado, B. (2020, June 30). Evidence-Based Physical Therapy for Individuals with Rett
Syndrome: A Systematic Review. Retrieved November 30, 2020, from
https://www.mdpi.com/2076-3425/10/7/410/htm
6. Lotan, M., & Hanks, S. (2006, June 24). Physical therapy interventions for individuals with Rett syndrome. Retrieved
November 29, 2020, from
https://rettuniversity.org/wp-content/uploads/2015/05/Physical-Therapy-Intervention-for-Individuals-with-Rett-Syndro
me.pdf