Rett Syndrome Flashcards
What is Rett syndrome
It affects the the brain development
It’s a severe condition of
The nervous system it affects all body movement motor skills and language
Most infants with Rett syndrome seem to grow and behave as expected for the first six months.
After that, signs and symptoms start to appear.
Pronounced changes generally occur at 12 to 18 months of age, over a period of weeks or
months.
Symptoms and their severity vary greatly from child to child
Characteristics
Slowed growth. Brain growth slows after birth. Smaller than usual head size (microcephaly)
sometimes the first sign that a child has Rett syndrome. As children get older, there is delayed growth in other parts of the body
Characteristics
Loss of movement and coordination abilities. The first signs often include reduced hand
control and a decreasing ability to crawl or walk. At first, this loss of abilities occurs rapidly, and then it continues more gradually.
Eventually muscles become weak or stiff, with unusual movement and positioning.
Characteristics
Loss of communication abilities. Children with Rett syndrome typically begin to lose the ability
to speak, to make eye contact and to communicate in other ways. They may become disinterested in other people, toys and their surroundings. Some children have rapid changes, such as a sudden loss of language.
Over time, children may gradually regain eye contact and develop nonverbal communication skills.
Characteristics
Unusual hand movements. Children with Rett syndrome usually develop repetitive, purposeless
hand movements, which differ from child to child.Hand wringing/squeezing, clapping/tapping,
mouthing and washing/rubbing automatisms (unconscious /involuntary action)
are stereotypical
in Rett syndrome. Repeatedly moving the hands towards the mouth
Co-morbidities
Unusual eye movements. Children with Rett syndrome tend to have unusual eye
movements, such as intense staring, blinking, crossed eyes or closing one eye at a time.
Breathing problems. These include breath holding, rapid breathing (hyperventilation),
forcefully blowing out air or saliva, and swallowing air. These problems tend to occur during
waking hours. Other breathing disturbances such as shallow breathing or short periods of
stopping breathing (apnea) can occur during sleep.
Irritability and crying. Children with Rett syndrome may become increasingly agitated and
irritable as they get older. Periods of crying or screaming may begin suddenly, for no-apparent reason, and last for hours. Some children may experience fears and anxiety. Altered sensitivity to pain.
Other unusual behaviors. These may include, for example, sudden, odd facial expressions
and long bouts of laughter, hand licking, and grasping of hair or clothing.
Intellectual disabilities. Loss of skills may be connected to losing the ability to think,
understand and learn.
Co-Morbidities
Seizures. Most people who have Rett syndrome experience seizures at some time during
their lives. Multiple seizure types may occur and are associated with changes on an electroencephalogram (EEG).
Sideways curvature of the spine (scoliosis). Scoliosis is common with Rett syndrome. It
typically begins between 8 and 11 years of age and progresses with age. Surgery may be
required if the curvature is severe.
Irregular heartbeat. This is a life-threatening problem for many children and adults with Rett
syndrome and can result in sudden death.
Sleep disturbances. Problems with sleep patterns can include irregular sleep times, falling
asleep during the day and being awake at night, or waking in the night with crying or
screaming.
Other symptoms. A variety of other symptoms can occur, such as a decreased response to
pain; small hands and feet that are usually cold; problems with chewing and swallowing;
problems with bowel function; and teeth grinding.
4 stages of Rett syndrome
Stage 1: Early onset Signs and symptoms are subtle and easily overlooked during the first stage, which starts between 6 and 18 months of age. Stage 1 can last for a few months or a year. Babies in this stage may show less eye contact and start to lose interest in toys. They may also have delays in s may also have delays gross motor development in sitting or crawling.
Stage 2: Rapid deterioration
Occurs between the ages of 1 and 4 years and can last for a week or months.
Child loses purposeful use of hands and spoken language.
Characteristic hand movements, such as wringing, tapping, clapping, washing and repeated movement of the hands to the mouth – these movements usually disappear during sleep.
Apnea and hyperventilation may occur, but usually improves during sleep.
Some Autistic type behaviors develop, such as a loss of social interaction and communication.
Walking becomes unsteady and initiating motor movements becomes difficult.
Slowed head growth
Stage 3: Plateau
• The third stage usually begins between the ages of 2 and 10 years
• Begins between the ages of 2 and 10 years and can last for years.
• Apraxia
• Motor problems
• Seizures
• Behaviour improves with less irritability, crying and Autistic-type characteristics.
• Communication, interest in surroundings, alertness and attention-span can improve
Stage 4: Late motor deterioration
• Can last for years or decades.
• Reduced mobility
• Curvature of the spine (scoliosis).
• Muscle weakness
• Rigidity
• Spasticity
• Increased muscle tone with abnormal posturing of an arm, leg, or top part of the body.
• Children who were walking may lose this ability.
• Communication, cognition and hand skills do not generally decline further in this stage
Who is more likely to get Rett syndrome?
Any racial or ethnic group can experience Rett syndrome.
• Rett syndrome most commonly affects girls, although boys are also (rarely) affected.
• Boys are usually more severely affected than girls.
• Nearly all cases of Rett syndrome are caused by a mutation in the methyl CpG binding protein 2,
or MECP2 (pronounced meck-pea-two) gene. • Genetic and environmental factors can contribute to differences in the severity and types of
symptoms found in individuals with Rett syndrome.
Communication
How do individuals with Rett syndrome communicate? Augmentative communication modalities such as using eye gaze, body movements, and alternative communication devices
picture boards or electronic devices)
Treating Rett syndrome
There is no cure for Rett syndrome Approved a new drug, Trofinetide, to treat Rett syndrome in children age two and older. Trofinetide works by reducing swelling in the brain, increasing the amount of a protective protein in the brain, and stopping some cells from becoming too active.
Other treatments focus on treating specific symptoms or behaviors seen in Rett syndrome. Medication can help with breathing and movement problems and seizures. Individuals affected by Rett syndrome should be regularly monitored for scoliosis (curving in the spine) and heart problem.
Treating Rett syndrome
Occupational therapy may help children develop skills needed for everyday activities like dressing, eating, and drawing, while physical therapy and water therapy (hydrotherapy) can help with mobility.
Some children may require special equipment and aids like spinal braces, splints for their hands and wrists, and nutritional support to help them maintain adequate weight. Children with Rett syndrome may need extra help with school and social support.
Many individuals with Rett syndrome live into middle age and beyond, despite the symptoms.
OT and SET
Developing a gradually range and skills
Provide ideas and education and around social story development
Gross and motor abilities determine the current age level of the child’s gross motor ablilty
Task engagements providing alternative ways to encourage task
Male Rett syndrome Klinefelter syndrome
Life expectancy 20 to 40
