About
A rare disorder caused by genetic mutations that affects the way brain develops
What is Rett Syndrome?
A series of deep breaths followed by forced exhalation prior to breath-holding
What is hyperventilation?
A chemical compound used to treat or cure illnesses
What is medicine?
The act of needing lifelong assistance with daily activities such as dressing, eating, and mobility
What is Dependence on Caregivers?
What is the general term for when families are afraid of their future with the possibility of raising a child/children with Rett Syndrome?
What are Family Planning Decisions?
This is the average expected lifespan for most individuals with this condition...
40-50 years old
A sudden burst of uncontrolled activity between brain cells that causes temporary abnormalities in muscle tone or movements (stiffness, twitching or limpness), behaviors, sensations or states of awareness.
What are seizures?
Treatment that improves your ability to talk and use other language skills
What is speech therapy?
Often times, many individuals experience motor difficulties such as loss of hand movements and challenges walking. What might they resort to?
What are wheelchairs and mobility aids?
When the need for caregiving limits social opportunities and the child’s condition, making it difficult for the family to engage in social events.
What is Social Isolation?
This genetic mutation occurs on the X chromosome meaning it is more prominent in this gender
What are females?
A neurodevelopmental conditions affecting intellectual processes, educational attainment, and the acquisition of skills needed for independent living and social functioning
What is intellectual disability?
A treatment that helps people overcome physical, emotional and social challenges
What is occupational therapy?
Places where families or individuals with Rett syndrome can attend to express their concerns and/or their experiences, such as RSRT (Rett Syndrome Research Trust) and Rett Syndrome Foundation.
What are support groups?
What tests would be done to diagnose Rett syndrome? (5 possible answers)
Blood sample for MECP2 gene mutation, Neurological and developmental assessment, physical examinations, and MRI or CT scans
This neurological disorder is so rare that it only occurs in approximately (x in xy) girls born every year. What are the missing values?
1 in 10,000 girls every year
Trouble performing motor functions, including speaking and controlling eye movements
What is apraxia?
A modification therapy that uses reinforcement to intervene in behaviors that could negatively affect a child's life.
What is behavioral intervention?
Typically, most families will install customized seating or eating utensils into their family household in order to make the one with Rett syndrome feel comfortable and safe. What is the general name for these items?
What is adaptive equipment?
NAME THE HEALTHCARE PROFESSIONAL!!!
People who specializes in seizure management
Who are epileptologists?
This disorder is caused by a mutation on a certain gene found on the X chromosome. This gene is also essential for the normal function of nerve cells... what do you think this gene is?
What is the MECP2 gene?
The loss of muscle tone
What is Hypotonia?
Although not a cure, in 2023 the FDA approved the production of a drug that would treat Rett syndrome in children ages two or younger. The name of this drug is...
What is Trofinetide?
Which healthcare professionals are required to help manage Rett syndrome?
(Name at least 3 for 500 points//2 for 250//1 for 100)
Who are Neurologists, Speech Therapists, Occupational Therapists, Physical Therapists, Pulmonologists, and Epileptologist?
NAME THE HEALTHCARE PROFESSIONAL!!!
People involved in managing breathing difficulties
Who are pulmonologists?