Podcast
Questions and Answers
What is the most common genetic cause of Down syndrome, accounting for approximately 95% of cases?
What is the most common genetic cause of Down syndrome, accounting for approximately 95% of cases?
- Nondisjunction/Trisomy 21 (correct)
- Mosaicism
- Translocation
- Uniparental Disomy
In the context of Down syndrome, what does translocation refer to?
In the context of Down syndrome, what does translocation refer to?
- The failure of chromosome 21 to separate during cell division.
- The condition where some cells have an extra copy of chromosome 21, while others do not.
- Part of chromosome 21 breaking off and attaching to another chromosome. (correct)
- The presence of an extra, separate copy of chromosome 21 in all cells.
What genetic mechanism is characterized by some, but not all, cells in an individual having an extra copy of chromosome 21?
What genetic mechanism is characterized by some, but not all, cells in an individual having an extra copy of chromosome 21?
- Translocation
- Mosaicism (correct)
- Balanced Robertsonian Translocation
- Nondisjunction
Which of the following is a common physical feature associated with Down syndrome?
Which of the following is a common physical feature associated with Down syndrome?
A child with Down syndrome exhibits impaired attention, difficulty with impulse control and challenges with emotional regulation. How would you categorize these?
A child with Down syndrome exhibits impaired attention, difficulty with impulse control and challenges with emotional regulation. How would you categorize these?
Which of the following is a possible medical comorbidity commonly associated with Down syndrome?
Which of the following is a possible medical comorbidity commonly associated with Down syndrome?
What aspect of physical therapy is NOT a primary goal when working with patients who have Down syndrome?
What aspect of physical therapy is NOT a primary goal when working with patients who have Down syndrome?
During the infant stage, what is a key focus of physical therapy intervention for infants with Down syndrome?
During the infant stage, what is a key focus of physical therapy intervention for infants with Down syndrome?
Which of the following is an important consideration for physical therapists regarding atlanto-axial instability (AAI) in individuals with Down syndrome?
Which of the following is an important consideration for physical therapists regarding atlanto-axial instability (AAI) in individuals with Down syndrome?
What is the primary focus of physical therapy treatment for individuals with Down syndrome?
What is the primary focus of physical therapy treatment for individuals with Down syndrome?
Why is it important to educate parents to avoid frog legged position with babies/infants?
Why is it important to educate parents to avoid frog legged position with babies/infants?
A physical therapist is working with an infant who has Down syndrome. What advice should the therapist give to the parents regarding positioning to promote development?
A physical therapist is working with an infant who has Down syndrome. What advice should the therapist give to the parents regarding positioning to promote development?
A physical therapist is assessing a child with Down syndrome. Which of the following is NOT a typical consideration related to AAI?
A physical therapist is assessing a child with Down syndrome. Which of the following is NOT a typical consideration related to AAI?
A 6 month old with Down Syndrome is not standing on their own. What should be considered?
A 6 month old with Down Syndrome is not standing on their own. What should be considered?
What percentage range of individuals with Down Syndrome who have AAI are symptomatic with noted spinal cord compression?
What percentage range of individuals with Down Syndrome who have AAI are symptomatic with noted spinal cord compression?
Which represents the correct interventions through the lifespan?
Which represents the correct interventions through the lifespan?
In which of the following situation should a physical therapist asses for hip subluxation?
In which of the following situation should a physical therapist asses for hip subluxation?
A physical therapist is working with a child with Down syndrome who has limited weight bearing ability. What intervention should be encouraged?
A physical therapist is working with a child with Down syndrome who has limited weight bearing ability. What intervention should be encouraged?
Why is it important for a physical therapist to assess alignment?
Why is it important for a physical therapist to assess alignment?
What implication does avoiding pulling on arms have?
What implication does avoiding pulling on arms have?
Flashcards
Nondisjunction/Trisomy 21
Nondisjunction/Trisomy 21
Most common type of Down syndrome, accounts for 95% of cases. Occurs when chromosome 21 doesn't divide properly in the egg or sperm, resulting in an extra chromosome.
Translocation (Down Syndrome)
Translocation (Down Syndrome)
A genetic event where a part of chromosome 21 breaks off and attaches to another chromosome.
Mosaicism
Mosaicism
A condition where some, but not all, of the body's cells have an extra copy of chromosome 21.
Decreased Tone
Decreased Tone
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Atlanto-axial Instability (AAI)
Atlanto-axial Instability (AAI)
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Patient and Parent Values
Patient and Parent Values
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Hypotonia Treatment
Hypotonia Treatment
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Study Notes
Genetics of Down Syndrome
- Down Syndrome can arise from nondisjunction/Trisomy 21, Translocation, or Mosaicism
Nondisjunction/Trisomy 21
- This is the most common type, accounting for 95% of Down Syndrome cases.
- Chromosome 21 does not divide properly in the egg or sperm.
- It occurs at conception.
- Every cell has an extra chromosome 21.
- The baby has 47 chromosomes instead of 46.
Translocation
- Translocation occurs in 3-4% of individuals with Down Syndrome.
- Part of chromosome 21 breaks off and attaches to another chromosome.
- One-third of parents are carriers without presentation, requiring consideration for family planning.
- It can occur because of a cell in the sperm or egg prior to fertilization (parent carrier) or by chance.
Mosaicism
- Mosaicism occurs in 1-2% of individuals with Down Syndrome.
- Some, but not all, cells have an extra copy of chromosome 21.
- Individuals have the same health issues and characteristics as others with Down Syndrome.
- The number of cells with extra copies generally does not determine how a child will develop.
Common Features
- Mild to moderate cognitive delay
- Flattened profile with upslant eyes
- Smaller ears and mouth
- Decreased tone
- Increased finger spacing
- Extra skin at the nape of the neck
- Protruding tongue
- Shorter stature
- Behavior problems
Behavior Problems
- Impaired attention
- Impulse control
- Emotional regulation
- Obsessive tendencies about a topic, item, or issue
Possible Medical Comorbidities
- Congenital heart defect: About 50% have an ASD or VSD, and 35% have an AV canal defect.
- Hearing loss
- Impaired vision/increased incidence of cataracts
- Gastrointestinal (GI) disorders, such as blockages, celiac disease, and reflux.
- Hypothyroidism
- Seizures
- Obesity
- Early onset dementia
- Autism
Down Syndrome and Physical Therapy Through Lifespan
- Infant: focus on positioning in the NICU, enrollment in early intervention, and education on positioning throughout the day.
- Baby-Toddler: State-funded early intervention programs cover ages 0-3, focusing on attaining motor milestones and minimizing abnormal compensatory movement patterns.
- Young Child: Transition to school-based and/or outpatient PT and involvement in community-adapted programming.
- School Age (5-21): Similar to young child intervention, with an increased focus on encouragement, physical fitness, and functional mobility for work/community.
- Adult: Focuses on joint protection, continued fitness, and has a life expectancy now in the 60s.
Physical Therapy Considerations
- Remember to determine patient and parent goals.
- Tone cannot be fixed.
- PT can:
- Increase strength
- Analyze movement patterns
- Increase motor planning ability
- Improve balance and coordination
- Increase postural control
- Assess alignment
- Help determine the need for braces or other assistive devices
- Help attain skills for success with fitness activities, school, and community
- Provide caregiver and patient education
Hypotonia & Increased Flexibility
- Educate parents to avoid frog-legged positions with babies/infants.
- Teach the importance of tummy time and how to prop for success.
- Encourage weight bearing.
- Consider the use of a walker if not standing independently by age 1.
- Assess for hip subluxation.
- Avoid pulling on arms due to increased risk of subluxation.
- For ankle pronation consider inserts or braces.
- Surestep SMO.
Atlanto-Axial Instability (AAI)
- Occurs in approximately 10-20% of individuals with Down Syndrome, with only 1-2% being symptomatic and having noted spinal cord compression.
- Ligamentous connections are loose or lax.
- Increased cervical movement can lead to impingement of the spinal cord.
- The American Academy of Pediatrics (AAP) previously recommended cervical spine X-rays in preschool years.
- Current guidelines emphasize a selective screening approach, focusing on symptomatic patients or those engaging in high-risk activities.
- X-rays are only indicated if there is pain, changes in hand use, walking, or bowel/bladder function.
Atlanto-Axial Instability (AAI) Further Information
- Ongoing neurological screening and physical examination are recommended.
- Avoid jarring activities such as trampolines, roller coasters, wrestling, and football.
- Symptoms of AAI
- Changes in walking
- Numbness, tingling, or pain in the neck, shoulder, or extremities
- Head tilted to the side
- Decreased bladder control
- Weakness in arms or legs
- Trouble moving the head or holding it up
Focus of Treatment
- Increase strength in a functional way.
- Development of motor milestones: sitting, transitions, standing, walking.
- Balance during functional tasks/movement.
- https://youtu.be/4JP1epzbZqc
St. Louis (STL) Area Resources
- Down Syndrome Center at SLCH
- Down Syndrome Center at Cardinal Glennon
- T.A.S.K. (Team Activities for Special Kids)
- Albert Pujols Wellness Center for Adults with Down Syndrome
- Variety Club
- DSAGL (Down Syndrome Association of St. Louis)
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