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2 - cervical spine radiographs to assess AA instability
A 10‑month‑old infant with Down syndrome is referred to PT for delayed gross motor skills. The child can sit independently but is not yet crawling or pulling to stand. Which additional medical screening is MOST important to confirm before initiating quadruped and weight‑bearing activities?
Echocardiogram to rule out atrial septal defect
Cervical spine radiographs to assess atlantoaxial instability
Thyroid panel to assess for hypothyroidism
Audiology exam to assess for hearing loss
4 - Strengthening improves motor control and joint stability despite persistent hypotonia
A 3‑year‑old child with Down syndrome demonstrates hypotonia, ligamentous laxity, and delayed walking. The parents ask why strengthening is emphasized when the child is “so flexible.” What is the BEST explanation?
Strengthening will reduce joint laxity and permanently tighten ligaments
Strengthening primarily prevents obesity and has minimal effect on function
Strengthening is used only to prepare the child for orthopedic surgery
Strengthening improves motor control and joint stability despite persistent hypotonia
3 - Structural differences in the Eustachian tubes and upper airway
A 5‑year‑old child with down syndrome presents with frequent respiratory infections, chronic otitis media, and sleep apnea. Which factor MOST contributes to these recurrent issues?
Overdevelopment of respiratory musculature
Hyperreflexia and increased muscle tone
Structural differences in the eustachian tubes and upper airway
Excessive physical activity and overtraining
3 - Strengthening of hip abductors and quadriceps with emphasis on eccentric control
A 2‑year‑old child with Down syndrome is beginning to walk with a wide base of support and knee hyperextension. Which PT intervention is MOST appropriate to address this early gait pattern?
Aggressive hamstring stretching and ankle weights
Treadmill training with partial body‑weight support and cueing for step symmetry
Strengthening of hip abductors and quadriceps with emphasis on eccentric control
Immobilization with long‑leg braces to prevent knee hyperextension
1 - down syndrome
A 6‑month‑old infant with hypotonia, poor head control, and feeding difficulties is being evaluated. The infant has almond‑shaped eyes, a flat facial profile, and a single palmar crease. Which diagnosis is MOST consistent with these findings?
Down syndrome
Williams syndrome
Fragile X syndrome
Prader Willi syndrome
2 - Maximizing comfort, positioning, and caregiver handling for daily care
A 4‑year‑old child with Edwards syndrome (trisomy 18) is referred to PT. The child has severe growth retardation, hip dislocation, arthrogryposis, and significant cardiac defects. What is the MOST realistic primary PT goal?
Independent community ambulation without assistive devices
Maximizing comfort, positioning, and caregiver handling for daily care
High‑intensity aerobic training to improve VO₂ max
Full correction of joint deformities through stretching
4 - klinefelter
A 9‑year‑old boy is tall and thin with long limbs, small testes, sparse facial hair, and mild hypotonia. He has learning difficulties but attends mainstream school. Karyotype reveals XXY. Which condition is MOST likely?
Turner syndrome
Fragile X syndrome
Williams syndrome
Klinefelter syndrome
1 - 45, X (turner syndrome - buck didn’t lecture this slide but it’s in the ppt)
A 7‑year‑old girl with short stature, webbed neck, low‑set ears, and genu valgum is referred to PT. She has a history of aortic arch abnormalities. Which karyotype is MOST consistent with this presentation?
45, X
47, XXY
47, XX, +21
46, XY, deletion on chromosome 7
2 - supravalvular aortic stenosis
A 5‑year‑old child with Williams syndrome is seen in PT. The child is very friendly, talks easily with strangers, and has growth retardation and cardiovascular involvement. Which cardiovascular condition is MOST characteristic?
Coarctation of the aorta
Supravalvular aortic stenosis
Atrial septal defect
Tetralogy of Fallot
1 - visual spatial integration
A child with Williams syndrome demonstrates difficulty copying a simple drawing of a bicycle. The child can name all the parts but cannot organize them into a coherent whole. This deficit is BEST described as:
Visual‑spatial integration impairment
Expressive language disorder
Apraxia of speech
Primary motor weakness
3 - Lock cabinets and refrigerators to control food access
A 3‑year‑old child with Prader Willi syndrome is transitioning from early intervention to preschool. The child had failure to thrive in infancy but now demonstrates hyperphagia, obesity risk, hypotonia, and scoliosis. Which environmental recommendation is MOST critical for family education?
Encourage free access to snacks to promote independence
Provide only liquid nutrition to reduce chewing demands
Lock cabinets and refrigerators to control food access
Eliminate all physical activity to reduce caloric expenditure
4 - Moderate‑intensity aerobic training with close cardiopulmonary monitoring
A 12‑year‑old child with Prader Willi syndrome is obese, has obstructive sleep apnea, and decreased oxygen saturation at night. Which PT intervention is MOST appropriate as part of a comprehensive plan?
High‑impact plyometrics to increase bone density
Maximal strength training with 1‑repetition maximum testing
Prolonged bed rest to reduce energy expenditure
Moderate‑intensity aerobic training with close cardiopulmonary monitoring
2 - Gait training, balance, and postural control with strong caregiver education
A 6‑year‑old child with Angelman syndrome is referred to PT. The child has severe intellectual disability, seizures, ataxic gait, and frequent smiling with “puppet‑like” postures. Which is the MOST appropriate PT focus?
High‑level sports skills and competitive play
Gait training, balance, and postural control with strong caregiver education
Exclusive fine motor training for handwriting
Vision‑only interventions to address visual field cuts
3 - Use augmentative and alternative communication (AAC) systems
A 4‑year‑old child with Angelman syndrome is largely nonverbal but frequently vocalizes and smiles. Which communication strategy is MOST appropriate to support participation in PT?
Use written instructions only
Rely solely on verbal instructions
Use augmentative and alternative communication systems
Avoid communication demands to reduce frustration
4 - Fragile X syndrome
A 9‑year‑old boy presents with long narrow face, large ears, flat feet, hypermobile joints, and behavioral features including hand‑flapping, poor eye contact, and social anxiety. He has an autism spectrum diagnosis and intellectual disability. Which condition is MOST likely?
Rett syndrome
Williams syndrome
Prader Willi syndrome
Fragile X syndrome
1 - Provide a quieter, structured environment with predictable routines
A school‑based PT is working with a child with Fragile X syndrome who becomes overwhelmed by loud noises and bright lights in the gym. Which strategy is MOST appropriate?
Provide a quieter, structured environment with predictable routines
Eliminate all physical activity to avoid overstimulation
Use only group activities in large, noisy spaces
Increase sensory input to habituate the child
2 - Closely monitor breathing and positioning due to risk of respiratory compromise
A 3‑year‑old girl with Rett syndrome initially met early milestones but has progressively lost purposeful hand use and language. She now demonstrates constant hand‑wringing movements, breath‑holding episodes, and scoliosis. Which is the MOST important PT consideration during sessions?
Avoid monitoring respiration because breath‑holding is behavioral
Closely monitor breathing and positioning due to risk of respiratory compromise
Focus on fine motor skills and make sure hands are used
Use resistance exercises to increase muscle strength
4 - Supported sitting with customized seating and trunk support
A PT evaluates a 2‑year‑old girl with Rett syndrome who has severe hypotonia, poor trunk control, and emerging scoliosis. Which intervention is MOST appropriate to address long‑term musculoskeletal complications?
Prolonged supine positioning without support
Spinal manipulations
Independent floor sitting without external support
Supported sitting with customized seating and trunk support
3 - Moderate‑intensity aerobic exercise with gradual progression and rest breaks
A PT is planning an exercise program for a teenager with Down syndrome and repaired congenital heart disease. The teen has decreased cardiopulmonary fitness and low muscle tone. Which exercise prescription principle is MOST appropriate?
No aerobic exercise due to cardiac history
High‑intensity interval training at maximal heart rate
Moderate‑intensity aerobic exercise with gradual progression and rest breaks
Only isometric strengthening to avoid heart rate changes
3 - forward rolls and high impact tumbling
A 5‑year‑old child with Down syndrome is scheduled for a Special Olympics program. The PT notes a history of atlantoaxial instability on radiographs. Which activity should be AVOIDED?
Walking on level ground
Swimming with a floatation device
Forward rolls and high‑impact tumbling
Stationary cycling with supervision
2 - Multiple system involvement with characteristic facial features and intellectual delay
A 2‑year‑old child with hypotonia and developmental delay is being evaluated. The PT suspects a genetic syndrome rather than a congenital structural anomaly. Which finding would MOST support a genetic etiology?
Isolated clubfoot with otherwise typical development
Multiple system involvement with characteristic facial features and intellectual delay
Single joint contracture after birth trauma
Normal cognition with a single limb deformity
1 - clubfoot
A PT is reviewing the difference between genetic and congenital disorders with students. Which example BEST represents a congenital disorder with typical chromosomes?
Clubfoot
Down syndrome
Turner syndrome
Fragile X syndrome
2 - hypothyroidism
A 7‑year‑old child with Down syndrome presents with fatigue, weight gain, irritability, and decreased activity tolerance. The PT notes an enlarged tongue and poor circulation. Which underlying condition should be suspected and communicated to the medical team?
Hyperthyroidism
Hypothyroidism
Diabetes insipidus
Cushing syndrome
4 - Regular, enjoyable physical activity with family
A 6‑year‑old child with Down syndrome has obesity (BMI >95th percentile), hypotonia, and low cardiopulmonary fitness. Which PT recommendation is MOST appropriate to address long‑term health?
Sedentary lifestyle to reduce joint stress
Strength training only, no aerobic exercise
Restrict all community participation to avoid fatigue
Regular, enjoyable physical activity with family
1 - use non‑food reinforcers and clear, consistent structure
A PT is working with a child with Prader Willi syndrome who has significant behavioral challenges, anxiety, and defiance when food is restricted. Which PT strategy is MOST appropriate during sessions?
Use non‑food reinforcers and clear, consistent structure
Use food as the primary reward for participation
Ignore behavioral outbursts and continue therapy without modification
Cancel sessions whenever the child becomes upset
3 - Typical early development then loss of hand skills and language in toddler years
A 3‑year‑old girl with suspected Rett syndrome is referred for evaluation. Which historical feature would MOST support this diagnosis?
Delayed milestones from birth with no regression
Hyperphagia and rapid weight gain in infancy
Typical early development then loss of hand skills and language in toddler years
Tall stature and long limbs with small testes
3 - New onset bradykinesia with cognitive slowing (suggesting hypothyroidism)
A 12‑year‑old girl with Down syndrome is referred for declining school participation and new difficulty with previously mastered motor tasks such as stair negotiation and dressing. The PT notes slowed reaction time, increased fatigue, cold intolerance, and mild weight gain. Strength testing shows no major change from prior visits. Which finding would MOST strongly indicate that the motor decline is not primarily due to hypotonia?
Increased co‑contraction during balance tasks
Excessive foot pronation during gait
New onset bradykinesia with cognitive slowing
Difficulty with eccentric quadriceps control
4 - angelman syndrome
A 4‑year‑old girl presents with severe expressive language impairment, ataxic gait, frequent smiling, and episodes of inappropriate laughter. She demonstrates no purposeful hand use regression, and caregivers deny any history of breath‑holding or loss of previously acquired skills. EEG shows seizure activity. Which diagnosis is MOST consistent?
Rett syndrome
Fragile X syndrome
Williams syndrome
Angelman syndrome
1 - Thoracic expansion exercises with consistent, predictable session structure
A 12‑year‑old with Prader Willi syndrome presents with worsening scoliosis, restrictive breathing pattern, daytime sleepiness, and decreased endurance. The child becomes agitated when routines change. Which PT intervention is MOST essential to address the primary physiologic risk?
Thoracic expansion exercises with consistent, predictable session structure
High‑resistance inspiratory muscle training
Rapid‑paced circuit training to improve aerobic capacity
Weighted vests to improve proprioception