DPT 6621 Final Exam 2025
Q. Your patient presents to your clinic with a known diagnosis of Prader-Willi syndrome.
Which of the following is a concern for children with this condition?
a. Childhood obesity
b. Scoliosis
c. Oxygen desaturation
d. All of the above - Correct Answer-Correct Answer: D.
Prader-Willi syndrome is a chromosomal microdeletion disorder that is the leading
genetic cause of obesity, so childhood obesity is a concern for these patients. Scoliosis
and oxygen desaturation are also common with these children
Which of the following disorder would not be due to an abnormality of the 23rd pair of
chromosomes?
A. Williams syndrome
B. Hemophilia A
C. Rett Syndrome
D. Lesch-Nyhan syndrome - Correct Answer-A
because it is a chromosomal microdeletion and B, C, and D are sex-linked disorders
meaning they involve an abnormality on the sex chromosomes (which are the 23rd pair
of chromosomes).
Q: Upon meeting a patient you have just evaluated, you observe clinical dysmorphisms
that suggest your patient may have a genetic disorder. You go back to further review
their medical file. Which of the following items of note listed in the medical history may
also indicate the presence of a genetic disorder?
A. height 6' 2", weight 160#, large ears and nose.
B. height 5'2", weight 160#, hx of scoliosis and anemia.
C. height 5' 2", weight 130#, hx of DM I.
D. height 6'2", weight 130#, hx of DM I. - Correct Answer-Answer: the correct answer is
B.
There are various clinical dysmorphisms that may be present in an individual with a
genetic disorder such as: obesity (BMI > 25), skeletal abnormalities such as scoliosis,
and hematology disorders such as anemia. It is important to note such items as these
as they may not be apparent through observation.
A patient presents with severe joint contractures, muscle weakness and fibrosis. Which
diagnosis would you expect to see on this patient's chart?
A. Fragile-X Syndrome
B. William's Syndrome
C. Osteogenesis Imperfecta
D. Arthrogryposis Multiplex Congenita - Correct Answer-D. AMC
A patient with this diagnosis would present with severe joint contractures, muscle
weakness, and fibrosis. This diagnosis is also associated with scoliosis, hemangiomas,
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congenital heart disease, respiratory issues, and abdominal hernias, with intelligence
and speech being generally normal.
Choice A is incorrect, as these patients will likely present with large ears and forehead,
intellectual disability, and are usually male.
Choice B is incorrect, as a likely presentation for this patient population would be mild to
moderate intellectual disability, unique personality characteristics, distinctive facial
features, and cardiovascular issues.
Choice C is incorrect because this patient population commonly has diffuse
osteoporosis leading to recurrent fractures, weak muscles, lax joints, blue sclerae,
dentinogenesis imperfecta, deafness, and excessive sweating
Q: All of the following are common physical presentations in a child with Arthrogryposis
Multiplex Congenita EXCEPT?
A. Club Feet
B. Wrist Flexion
C. Shoulder Internal Rotation
D. Hip extension with adduction and internal rotation - Correct Answer-Answer: D.
Club Feet, Wrist Flexion and Shoulder Internal Rotation are all common physical
presentations but hip extension with adduction and internal rotation is not. The
presentation is hip flexion with knee extension OR hip flexion and abduction with
external rotation and knee flexion
All of the following are common impairments/characteristics of Osteogenesis Imperfecta
EXCEPT:
A. Hypomobile joints
B. Deafness
C. Excessive sweating
D. Weak Muscles - Correct Answer-Answer: A - Lax joints or hypermobile joints would
be a common presentation of Osteogenesis Imperfecta
Considering Physical therapy interventions with pediatric patients diagnosed with
Osteogenesis Imperfecta, which of the following is most appropriate?
A. Utilize traction such as pull to sit
B. Keep child indoors in order to promote proper safety awareness
C. Balance Muscle Strengthening with protection of joints and bones
D. Conduct a sub maximal aerobic test - Correct Answer-Correct answer is C,
because we want to avoid traction. We don't not want to keep the child indoors because
we want to promote social interaction, and D is inappropriate due to the stress and
potential safety hazards for this patient
Which of the following is false about Developmental Coordination Disorder?
a. It affects a child's ability to perform age appropriate complex motor activities
b. The specific neuroanatomic site involved is the cerebellar
c. Associated disorder includes ADHD
d. Without intervention children do not grow out of it - Correct Answer-Correct Answer:
B. There is no specific pathologic process or neuroanatomic site that has been
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associated with DCD. Theories include mirror neurons, impaired feed forward models,
and cerebellar involvement
Q: You are working with a child who was diagnosed with Arthrogryposis Multiplex
Congenita (AMC). All of the following are important goals to consider when working with
your patient EXCEPT:
A. Promoting social relationships
B. Assisting the child through problem solving
C. Concentrating on their disability
D. Educating for energy conservation - Correct Answer-Correct answer: C. Ability rather
than disability should be stressed to enhance independence in mobility and social skill
acquisition. A, B, and D are important goals because they emphasize independence
instead of the need for physical assistance in ADLs.
You are evaluating a 2 year old boy with a known diagnosis of Duchenne Muscular
Dystrophy. Which of the following cluster of symptoms do you expect to see?
A. muscle weakness, weakness affecting proximal more than distal muscles, waddling
gait, enlargement of calves
B. muscle weakness, weakness affecting distal more than proximal muscles, ataxic gait,
enlargement of calves
C. muscle weakness, weakness affecting proximal and distal muscles equally, no
significant gait deviation, enlargement of calves - Correct Answer-A
DMD is characterized by progressive muscle weakness, weakness affecting shoulders,
upper arms, hips, and thighs (proximal >> distal), enlargement of calves, and waddling
gait
Your patient has Osteogenesis Imperfecta (OI). He has a triangular face, loose joints,
increasing scoliosis and is non-ambulatory for exercise and transfers. Which type of OI
does your patient have?
A. Type I
B. Type III
C. Type VII
D. Type XI - Correct Answer-The correct answer is B. These characteristics are
consistent with Type III OI along with very short stature, blue sclera at birth, variable
bone fragility, variable dentin abnormality, and hearing loss.
You are currently treating a child with Type IV osteogenesis imperfecta (OI). With the
development of gene mapping, you know there are certain common characteristics of
OI types I-IV. What are these common characteristics? (Choose all that apply)
a. autosomal recessive
b. autosomal dominant
c. defect in type 1 collagen structure
d. unable to translate collagen to bone - Correct Answer-The answer is B & C are
common to OI types I-IV.
A & D are common to OI types V-XI
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