Rett Syndrom Flashcards
What is Rett syndrome?
A rare genetic neurological and developmental disorder that affects brain development.
Which population is primarily affected by Rett syndrome?
Females.
What are the initial growth expectations for infants with Rett syndrome?
They usually grow and behave as expected for the first six months.
At what age do pronounced changes typically occur in children with Rett syndrome?
12 to 18 months of age.
What is a common early sign of Rett syndrome related to growth?
Slowed growth and smaller than usual head size (microcephaly).
What happens to movement and coordination abilities in Rett syndrome?
There is a loss of movement and coordination abilities, starting with reduced hand control.
How does the loss of abilities progress in children with Rett syndrome?
Initially occurs rapidly, then continues more gradually.
What is a characteristic symptom regarding communication in Rett syndrome?
Loss of the ability to speak and make eye contact.
What types of unusual hand movements are seen in children with Rett syndrome?
Repetitive, purposeless hand movements such as hand wringing, clapping, and mouthing.
Fill in the blank: Rett syndrome causes a progressive loss of _______ and language.
motor skills
True or False: Most infants with Rett syndrome show symptoms at birth.
False.
What is one example of a stereotypical hand movement in Rett syndrome?
Hand wringing.
What may happen to a child’s interest in surroundings as Rett syndrome progresses?
They may become disinterested in people, toys, and their surroundings.
What is microcephaly in the context of Rett syndrome?
Smaller than usual head size that may be the first sign of the disorder.
What might children with Rett syndrome gradually regain over time?
Eye contact and nonverbal communication skills.
What is the nature of the hand movements in Rett syndrome?
Unconscious/involuntary actions.
What are unusual eye movements associated with Rett syndrome?
Intense staring, blinking, crossed eyes, or closing one eye at a time
These movements are characteristic features observed in children with Rett syndrome.
What breathing problems are commonly seen in children with Rett syndrome?
Breath holding, hyperventilation, forcefully blowing out air or saliva, swallowing air, shallow breathing, and apnea
Breathing issues often occur during waking hours and can also affect sleep.
How does irritability and crying manifest in children with Rett syndrome?
Increased agitation, sudden periods of crying or screaming, lasting for hours without apparent reason, fears, and anxiety
This behavior tends to worsen as the child ages.
What are some examples of other unusual behaviors in Rett syndrome?
Sudden odd facial expressions, long bouts of laughter, hand licking, and grasping of hair or clothing
These behaviors can vary widely among individuals.
What type of intellectual disabilities are associated with Rett syndrome?
Loss of skills related to thinking, understanding, and learning
This can lead to significant challenges in cognitive development.
What is the prevalence of seizures in individuals with Rett syndrome?
Most individuals experience seizures at some point in their lives, with multiple seizure types possible
Seizures are often associated with changes observed on an electroencephalogram (EEG).
At what age does scoliosis typically begin in children with Rett syndrome?
Between 8 and 11 years of age
Scoliosis may progress with age and can require surgical intervention if severe.
What is a serious heart condition associated with Rett syndrome?
Irregular heartbeat
This condition poses a life-threatening risk and can potentially lead to sudden death.
What sleep disturbances are common in Rett syndrome?
Irregular sleep times, daytime sleepiness, nighttime wakefulness, and waking with crying or screaming
Sleep issues can significantly affect daily functioning.
Name some other symptoms that can occur with Rett syndrome.
Decreased response to pain, small cold hands and feet, chewing and swallowing problems, bowel function issues, and teeth grinding
These symptoms can vary widely among individuals and may affect quality of life.
