Down Syndrome - Presentation Flashcards
What is Down Syndrome?
- Genetic mutation to chromosome 21 that influences brain/body development & slows speech
- 3 types classified based on chromosome location
What are the 3 types of Down Syndrome?
1.) Trisomy 21 (95%) - every cell has 3 individual copies of chromosome 21
2.) Translocation (3%) - part or whole extra chromosome but attached to another chromosome rather than being a whole separate copy of 21
3.) Mosaic (2%) - some cells have 3 copies but others have 2, so features may not be as prevelant
What are 3 ways that down syndrome happens?
1.) Caused by random error in cell division that results in presence of an extra chromosome 21
2.) error called “nondisjunction” when both chromosomes from one pair go into one cell instead of splitting
3.) no behavioural activity of the parents or environmental factors are known to cause Down syndrome
How is Down syndrome diagnosed Prenatally?
- screening & diagnostic tests on fetus
- blood tests (for substances) & sonogram (checks for markers)
- new prenatal screens can detect chromosomal material from fetus in maternal blood (high accuracy)
How is Down syndrome diagnosed at Birth?
Usually identified at birth due to presence of certain physical traits
- karyotype & genetic test
How does age influence Down Syndrome?
- Risk increases with
- Most babies with Down syndrome are born to parents over 35 yrs
How does Gender influence Down Syndrome?
- More likely to occur in male babies than females
- Nay be due to variation in gene expression
How does Race influence Down Syndrome?
Highest risk for Caucasian women
- fathers genes play huge role
What are the Physical Features of someone with Down Syndrome?
- flattened nose bridge & face
- protruding tongue
- upwards-slanted eyes
- single palmar crease
- small ears, feet, & hands
- shortened height & slowed growth
- poor muscle tone & joint strength
What are 6 Cognitive Features of someone with Down Syndrome?
1.) Development - slowed brain development
2.) Speech - slowed speech & language abilities
3.) Senses - visual & auditory senses disrupted
4.) Seizures - more likely to have, causing additional cognitive decline
5.) Dementia - once adult, almost all will have
6.) Characteristics - reduced attention span, stubbornness, & impulsivity
What are the Emotional Features of someone with Down Syndrome?
- misconception that they are always happy when realistically they feel all emotions an average person
- atleast 50% with Down syndrome will experience a major mental health concern
- most common mental health concerns = anxiety, OCD, tics, depression, & oppositional behaviours
What are the Social Features of someone with Down Syndrome?
- strong desire to interact with others
- speech difficulties & challenges with social cues
- struggle maintaining friendships due to communication barriers
What are some Physical Barriers someone with Down syndrome may face?
- motor delays
- low muscle tone (hypotonia)
- physical stigma
What are some Cognitive Barriers someone with Down syndrome may face?
- intellectual disabilities
- memory & attention issues
- speech & language delays
What are some Financial Barriers someone with Down syndrome may face?
- increased financial costs
- loss of income
- lack of financial support
What are some Social Barriers someone with Down syndrome may face?
- shunned/excluded from friend groups
- social stigma
- private or home schooling
What are some Behavioural Management Strategies for individuals with down syndrome?
- emotional literacy
- avoid triggering situations
- positive reinforcement
- communication strategies
- sensory breaks
What are some Educational Management Strategies for individuals with down syndrome?
- visual aids
- simple language
- receptive & expressive language skills
- Kinesthetic learning
What are some Family Support/Management Strategies for individuals with down syndrome?
- social skills
- parental involvement
- structured routines
- advocate the needs
What are 3 interventions/therapies used for people with Down Syndrome?
1.) Physical Therapy - improving motor skills, posture, balance, & muscle strength
2.) Occupational Therapy - sensory processing, social interactions, ADLS, & cognitive skills
3.) Speech Therapy - articulation, vocabulary, augmentative, & social communication
Using the STEP Framework, how would you adjust the Space for someone with Down Syndrome?
Reduce distractions, clear boundaries, & leave room for movement
Using the STEP Framework, how would you adjust the Task for someone with Down Syndrome?
Simplify instructions, increase repetitions, & provide more time
Using the STEP Framework, how would you adjust the Equipment for someone with Down Syndrome?
Adjust size & weight of equipment & use textured equipment
Using the STEP Framework, how would you adjust the People for someone with Down Syndrome?
Buddy system & socialization, smaller groups, & positive reinforcement