Transcript Pediatrics And Research BOARD REVIEW

Pediatrics and Research
BOARD REVIEW
Question
• On examination, a 3-month-old girl still has a
Moro reflex, asymmetric tonic neck reflex,
and plantar grasp reflex. She does not have
any protective extension. You advise her
parents that
• (a) further diagnostic evaluation is indicated.
• (b) she requires a physical therapy
evaluation.
• (c) she needs a neurology evaluation.
• (d) these reflexes are normal reflexes.
Answer
• (d) These are normal reflexes in a 3month-old child. The Moro and asymmetric
tonic neck reflexes (ATNR) usually are
integrated by approximately 6 months. The
plantar grasp reflex is integrated by 12 to
14 months after walking has begun.
Protective extension in sitting is seen
anteriorly at 5 to 7 months, lateral at 6 to 8
months, and posterior at 7 to 8 months.
Question
• A 2-month-old infant presents to you for evaluation of delayed
development. He was the product of a normal term
pregnancy, labor, and delivery. Birth weight was 3500 grams.
He has had difficulty feeding since birth. Family history is
negative for developmental problems. On physical
examination, he is awake, but not alert. Weight is 3600
grams. Respiration is unlabored. He has poor head control
and decreased tone throughout. Deep tendon reflexes are
absent. What is the most likely diagnosis?
• (a) Kugelberg Welander syndrome
• (b) Duchenne muscular dystrophy
• (c) Infantile botulism
• (d) Tetraplegic cerebral palsy
Answer
• (d) This patient illustrates the diagnostic dilemma of
the floppy infant. Causes of this problem include
central nervous system lesions (both brain and spinal
cord), myopathies, neuropathies, and neuromuscular
junction problems. This infant has had abnormalities
since birth, which argues against infantile botulism.
Kugelberg Welander syndrome (also known as spinal
muscular atrophy type 3) has onset during childhood,
as does Duchenne muscular dystrophy. Tetraplegic
cerebral palsy often presents in infancy with floppiness
and hyporeflexia, which later change to spasticity and
hyperreflexia.
Question
• Professionalism is the basis of medicine’s
contract with society. Which item is a
fundamental principle of medical
professionalism?
• (a) Social justice
• (b) Physician paternalism
• (c) Patient disclosure
• (d) Free enterprise
Answer
• (a) According to the Charter on Medical
Professionalism, there are 3 fundamental
principles of medical professionalism.
They are (1) the primacy of patient
welfare, (2) patient autonomy, and (3)
social justice.
Question
• Your co-resident presents an article in journal club on
a new medication and its impact on outcomes
following traumatic brain injury. On which point would
you NOT need assurance before you decide to use
this medication in your clinical practice?
• (a) That the research study results are clinically
significant
• (b) That bias was eliminated from the study
• (c) That the research study results are statistically
significant
• (d) That research investigators used valid outcome
measures
Answer
• (b) When critically evaluating the medical
literature, it is important to consider if the
results of the study are both clinically and
statistically significant. It is also important to
consider whether the outcome assessment
tools have been validated for both accuracy
and reliability. While biases that may impact
the outcome of the study also must be
considered, it is often impossible to
completely eliminate bias from the study.
Question
• Which statement accurately characterizes a metaanalysis?
• (a) It summarizes the results of randomized
controlled trials.
• (b) It summarizes the findings of an expert panel.
• (c) It groups research on a particular topic area
into 3 tiers.
• (d) It summarizes findings of a single research
protocol that is carried out a multiple centers.
Answer
• (a) A meta-analysis summarizes the results
of randomized controlled trials on a particular
topic or research question. A consensus
statement summarizes the findings of an
expert panel. In developing a consensus
statement and reviewing the literature,
research studies are typically divided into 3
tiers based on the type of research
performed. A multi-center study implements a
particular research protocol at multiple
centers at different institutions.
Question
• Investigators must address ethical considerations
when designing and implementing research studies.
One such consideration requires investigators to
design protocols that will provide generalizable
knowledge and ensure that the benefits of the
research are proportionate to the risks assumed by the
subjects. This ethical consideration is referred to as
• (a) respect.
• (b) beneficence.
• (c) justice.
• (d) autonomy.
Answer
• (b) Beneficence requires investigators to
design protocols that will provide
generalizable knowledge and ensure that
the benefits of the research are
proportionate to the risks assumed by the
subjects.
Question
• In instances where a researcher has financial investments in
a company and is researching the effectiveness of one of the
company’s products, the researcher is obligated to
• (a) terminate the investigation if the investigational agent is
found to be not effective.
• (b) disclose this involvement in writing to subjects that are
being enrolled in the study.
• (c) end financial involvement in the company before the
results of the research are revealed to the public.
• (d) disclose this involvement to the investigator's medical
center, to funding organizations, and to journals publishing the
results.
Answer
• (d) Conflicts of interest in biomedical research are becoming
more apparent as private companies increasingly develop
relationships with academic research scientists. Avoidance of
real or perceived conflicts of interest in clinical research is
necessary if the medical community is to ensure objectivity
and maintain individual and institutional integrity. Financial
investments should only transpire outside of the time that the
investigator is involved in any research activity and the results
of the research are known to the public. If conflicts of interest
exist, the investigator is obligated to disclose this involvement
in writing to the investigator's medical center, organizations
funding the research, and anytime that the research is
presented or published.
Question
• 149. A 6-month-old infant presents to you with
hypotonia. You perform an electrodiagnostic study
which shows normal motor conduction velocity,
normal sensory conduction velocity and amplitude,
normal motor units, and occasional fibrillations and
positive waves. The most likely cause of these
findings is
• (a) congenital myotonic dystrophy.
• (b) spinal muscular atrophy.
• (c) metachromatic leukodystrophy.
• (d) infantile botulism.
Answer
• 149. (a) Hypotonia in infants can be
caused by many abnormalities, including
cerebral lesions, spinal cord pathology,
polyneuropathies, and myopathies. These
electrodiagnostic findings are most
consistent with congenital myotonic
dystrophy.
Question
• In children with spastic cerebral palsy,
which intervention strengthens weak
muscles?
• (a) Ankle-foot orthotics
• (b) Tendon transfer surgery
• (c) Intrathecal baclofen
• (d) Functional training program
Answer
(d) Children with cerebral palsy often have
weakness as part of their disorder.
Treatments such as bracing, tendon
lengthening or transfers, and medications
such as botulinum toxin or intrathecal
baclofen add to this weakness.
Strengthening programs or functional
training programs can help to strengthen
weak muscles.
Question
• One of your 4-year-old patients exhibits the
following characteristics: distress over minor
changes in environment, echolalia, lack of
awareness of the existence of feelings in
others, nonparticipation in simple games. The
most likely diagnosis is
• (a) autism.
• (b) cerebral palsy.
• (c) hearing impairment.
• (d) mental retardation.
Answer
• (a) Autism is characterized by echolalia,
inability to play reciprocally, and abnormal
relationships with people. While children
with mental retardation, cerebral palsy,
and hearing impairment may have some of
these features, they do not have all of
them in the absence of autism.
Question
• A 17-year-old boy from India presents with a
longstanding history of areflexia and
asymmetric muscular atrophy after a febrile
illness as a child. The likeliest site of
neurologic pathology is
•
• (a) myelin sheath of peripheral nerves.
• (b) axons of peripheral nerves.
• (c) anterior horn cells.
• (d) muscle membrane.
Answer
• (c) Poliomyelitis involves the anterior horn
cells. During an acute infection, the virus is
transported to the anterior horn cells
followed by inflammation and loss of spinal
and bulbar motor neurons.
Question
• Which finding is normal in newborn
infants?
• (a) Extensor tone predominates
• (b) Hands are kept fisted
• (c) Spine is straight when held in sitting
position
• (d) Unable to turn head to side in prone
position
Answer
• (b) In normal newborn infants flexor tone
predominates and hands are kept fisted. In
prone position a normal newborn is able to
turn the head to either side. The newborn
has a rounded spine when placed in
supported sitting.
Question
• A 10-year-old child with L4-5
myelodysplasia and shunted
hydrocephalus develops spasticity in her
legs. The most likely cause of this
spasticity is
• (a) shunt malfunction.
• (b) symptomatic Chiari malformation.
• (c) growth.
• (d) tethered cord.
Answer
• (d) Tethered cord is the most common
cause of new onset spasticity in patients
with myelodysplasia. Linear growth does
not cause new spasticity. Symptoms of
Chiari malformation include cranial nerve
disorders and respiratory problems. Shunt
malfunction may be associated with
headaches, vomiting, eye muscle
abnormalities, and sometimes abdominal
symptoms.
Question
• Which positive effect of ankle-foot
orthotics has been proven beneficial in the
treatment of children with cerebral palsy?
• (a) Improved gait efficiency as measured
by gait analysis
• (b) Prevention of contractures
• (c) Improved knee extensor strength
• (d) Decreased plantar flexor posture
Answer
• (a) There are no large, randomized,
controlled studies that show the long-term
effects of any type of Ankle-Foot Orthosis
(AFO) on function or contracture
formation. Small studies have shown that
both rigid and hinged AFOs improve gait
efficiency by preventing plantar flexion.
Question
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A 5-year-old boy is brought to your office with pain in his left groin for the
last 2 months. He has an antalgic gait and favors his left leg. He has been
unable to play with his siblings because of pain and reports increased
severity of the pain at night. There is no history of trauma. Passive range of
motion of the left hip is extremely painful. Which of the following is most
likely?
(a) The child is not telling the truth about the trauma for fear of being
punished by his parents.
(b) A simple radiograph will demonstrate this problem to be a benign
syndrome that only requires
monitoring.
(c) This child is at risk for permanent disability and treatment requires the
use of an abduction
brace.
(d) You are very concerned about physical abuse by the parents, since the
child is very quiet when the parents are in the examination room.
Answer
• (c) This child has Legg-Calvé-Perthes
disease. This is avascular necrosis of the
femoral head (also known as idiopathic
osteonecrosis of the femoral head) and
typically affects children between the ages of
4 and 8 years. Boys are affected 4 times
more than girls are, and it is unilateral in 90%
of children. It is uncommon in African
American children. The bone dies and loses
its structural integrity, leading to collapse of
the femoral head with deformity and arthritis.
Question
• What condition casues the typical “myopathic gait”
seen in a young boy with Duchenne muscular
dystrophy with accentuated lumbar lordosis and
toe walking?
• (a) Hip and knee extensor weakness
• (b) Hip flexion and ankle plantar flexion
contractures
• (c) Hip extensor weakness and plantar flexion
contracture
• (d) Hip flexion contracture and knee extensor
weakness
Answer
• (a) The typical “myopathic gait” seen in
early Duchenne muscular dystrophy is
caused by weakness of the gluteus
maximus and quadriceps muscles. In
order to maintain upright posture the child
assumes the hyperlordotic stance.
Contractures of the gastrocsoleus and
iliopsoas muscles occur later in the
disorder.
Question
The most useful clinical criterion to distinguish
Becker muscular dystrophy from Duchenne
muscular dystrophy is ?
• (a) creatine kinase values at the time of
diagnosis.
• (b) walking ability during the teen-age years.
• (c) Gowers’ sign and calf enlargement.
• (d) age at onset of diagnosis.
Answer
• (b) The most useful clinical criterion to distinguish
Becker muscular dystrophy (BMD) from Duchenne
muscular dystrophy (DMD) is the continued ability of
the patient to walk into late teen-age years. Persons
with BMD will typically remain ambulatory beyond 16
years. Outlier DMD cases generally stop ambulating
between 13 and 16 years of age. Creatine kinase
values cannot be used to differentiate DMD from BMD.
Calf enlargement and the presence of Gowers’ sign
are a nonspecific findings. Studies have shown
significant overlap in the observed age at onset
between DMD and BMD.
Question
The leading cause of childhood disability is
• (a) traumatic brain injury.
• (b) spinal muscular atrophy.
• (c) spina bifida.
• (d) cerebral palsy.
Answer
• (d) Cerebral palsy is the leading cause of
childhood disability. The reported incidence is
approximately 2-3 per 1,000 live births. The
incidence of spina bifida is .5 per 1,000, of spinal
muscular atrophy 1 in 25,000. The annual
incidence for traumatic brain injury in children is 12 per 1,000. However, the great majority of cases
are minor and result in no long-term disability.
Approximately 15% of brain-injured children have
moderate and severe injuries resulting in
permanent impairment.
Question
• The earliest weakness seen in skeletal
muscle in Duchenne muscular dystrophy
is located in
• (a) knee extensors.
• (b) hip flexors.
• (c) neck flexors.
• (d) ankle plantar flexors.
Answer
• c. neck flexors
Question
The most common complication after
amputation in the immature child is
• (a) phantom limb pain.
• (b) diffuse edema.
• (c) terminal overgrowth.
• (d) painful neuroma.
Answer
• (c) Terminal overgrowth at the transected end
of a long bone is the most common
complication after amputation in the skeletally
immature child. It occurs most frequently in
the humerus, fibula, tibia, and femur, in that
order. The oppositional growth may be so
vigorous that the bone pierces the skin. The
treatment of choice is surgical revision.
Question
• The earliest marker of abnormal central
nervous system maturation is ?
• (a) diffuse fasciculations.
• (b) gross motor delay.
• (c) delay of postural responses.
• (d) persistence of primitive reflexes.
Answer
• (d) In neonates and young infants, motor
behavior is influenced by primitive reflexes
because of the immature central nervous
system. These reflexes gradually become
suppressed. Concurrently, more
sophisticated postural responses emerge.
Obligatory persistent primitive reflexes are
the earliest markers of abnormal
neurologic maturation.
Question
A parent of an 18-month-old child reports that the child
babbled as an infant but became much quieter after
about 8 months of age. She has no true words, though
she will wave bye-bye. She follows no verbal
commands but will follow occasional pantomime
commands. Her gross and fine motor skills have been
normal. The most likely diagnosis is ?
• (a) autism.
• (b) mental retardation.
• (c) hearing impairment.
• (d) oral motor apraxia.
Answer
• (c) A history of delay in communication development
raises several diagnostic possibilities, including true
language dysfunction or a motor dysfunction or
significant hearing loss. Infants with hearing loss start
to fall behind after 6-8 months of age, when learning of
auditory-dependent vocalization begins. Oral motor
dysfunction is often associated with cerebral palsy,
most often spastic quadriparesis. Difficulty with
drinking from a cup and difficulty with the introduction
of solid food are early symptoms of oral motor
dysfunction. Autism is a spectrum disorder with
qualitative abnormalities in communication and in
social and behavioral realms.
Question
The most severe form of mental retardation
in cerebral palsy occurs in association with
• (a) spastic diplegia.
• (b) ataxia.
• (c) spastic quadriplegia.
• (d) athetosis.
Answer
• (c) Mental retardation is the most common
serious associated disability in cerebral
palsy. The overall incidence of mental
retardation is approximately 30%-50%.
Severe mental retardation is present in
about one-half of the retarded group.
Approximately one-third of cases have
mild cognitive deficits. The greatest
retardation is seen in rigid, atonic, and
severe spastic quadriplegic cerebral palsy.
Question
A 7-year-old boy is referred for evaluation and
management of gradually progressive pain located
in the right medial thigh and knee, a limp, and
limited painful hip motion. There was a similar
episode 3 months before which resolved
spontaneously. Of the following conditions, the
most likely diagnosis is
• (a) congenital hip dysplasia.
• (b) slipped capital femoral epiphysis.
• (c) Legg-Calvé-Perthes disease.
• (d) epiphyseal fracture.
Answer
• (c) Legg-Calvé-Perthes disease, avascular
necrosis of the femoral head, occurs most
commonly in boys between the ages of 4 and 8
years. It is characterized by medial thigh, groin,
and knee pain, is associated with a limp, and is
often preceded by a transient episode of hip
synovitis. Congenital hip displasia is usually
apparent much earlier; slipped capital femoral
epiphysis occurs during periods of rapid growth,
typically in adolescent boys, and may be preceded
by trauma.
Question
In evaluating a hypotonic infant with
electromyography you find low-amplitude, shortduration motor units with early recruitment. Based
on these findings, the LEAST likely diagnosis
would be
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(a) central core disease.
(b) nemaline myopathy.
(c) type II glycogenosis (acid maltase deficiency).
(d) infantile spinal muscular atrophy.
Answer
• (d) The motor unit changes noted are
typically seen in myopathies. Spinal
muscular atrophy is an anterior horn cell
disease.
Question
• In traumatic brain injury in children,
outcome is primarily related to
• (a) severity of original injury.
• (b) location of injury.
• (c) age at time of injury.
• (d) associated injuries.
Answer
• (a) Although there is considerable
variability from case to case, outcome is
primarily related to the severity of the
injury.
Question
Which reflex is typically NOT seen in a normal 4month-old infant?
• (a) Extremities extend on the face side as the
head is turned to the side.
• (b) Fingers flex when the palm is touched.
• (c) Extremities extend to the direction of
displacement when center of gravity is displaced.
• (d) Shoulder abduction, and shoulder, elbow, and
finger extension occur when the neck is
suddenly extended.
Answer
• (c) These options all describe reflexes. (a)
asymmetric tonic neck reflex, (b) palmar
grasp, and (d) Moroare seen until a baby
is about 6 months old. Protective
extension or parachute reaction (c) does
not appear until after 6 months.
Question
Which statement is true regarding spinal cord injury without obvious
radiologic abnormality in children?
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(a) It most commonly occurs in lumbar rather than cervical
injuries.
(b) There is a lower incidence in younger children.
(c) It is associated with larger head size and relatively weak
neck muscles.
(d) Neurologic impairmen, if it occurs, is usually apparent within
2 to 4 hours post-injury.
Answer
• (c) Spinal cord injury without obvious
radiologic abnormality (SCIWORA) usually
occurs in young children, is thought to be
due to the relatively large head size and
weak neck muscles, and motor
abnormalities may not be apparent for up
to several days. SCIWORA most
commonly occurs in the cervical region.
Question
• Which is the following represents the best
description a cohort study?
a) A group examined at one point in time
b) 2 groups selected based on the presence or
absence of an outcome.
c) A group followed over time
d) A group that is divided into an intervention
versus a placebo.
• C: A group followed over time
Question
• True or false: A case control study, the
investigator makes all of the
measurements on a single occasion or
within a short period of time.
–?
Answer
• False:
• In a case control study, the investigator works backwards. They
began by choosing one sample from a population of patient’s with
the outcome (but cases) and another from a population without
outcome (the control); then they compare the distribution levels of
the predictor variables in the 2 samples to see which ones are
associated with and might cause the outcome.
• It is the cross sectional study where the investigator makes all of the
measurements on a single occasion or within a short period of time.
Question
Acquired subluxation or dislocation of the
hips in spastic cerebral palsy is usually
due to muscular imbalance and pull of the
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(a) hip flexors and tensor fascia lata.
(b) hip flexors and hip adductors.
(c) rectus femoris and hip abductors.
(d) tensor fascia lata and hip extensors.
Answer
• (b) Strong hip flexor and adductor muscles
can overpower weak extensors and
abductors. Acquired hip dislocation can be
prevented in some cases by release of
spastic hip flexors and adductors.
Question
Your 15-year-old patient with Duchenne
muscular dystrophy complains of new
onset morning headaches. What is the
most likely cause?
• (a) Neck extensor tightness
• (b) Hypercarbia
• (c) Migraines
• (d) Vision changes
Answer
• (b) Migraines do not typically occur only in
the morning. Neck extensor tightness
usually occurs before the loss of
ambulation in boys with Duchenne
muscular dystrophy, which usually occurs
before the age of 15 years. Vision
changes usually do not cause morning
headaches. Hypercarbia results from
hypoventilation during sleep and is an
early sign of impending respiratory failure.
Question
Which insult is the most likely cause of
spastic diplegic cerebral palsy?
• (a) Intrauterine stroke
• (b) Hyperbilirubinemia in the neonatal
period
• (c) Postnatal intraventricular hemorrhage
• (d) Perinatal asphyxia
Answer
• (c) Spastic diplegic cerebral palsy occurs
most commonly in premature infants who
have had an intraventricular hemorrhage
during the neonatal period. Intrauterine
stroke causes hemiplegia. Neonatal
hyperbilirubinemia most commonly causes
athetosis. Birth asphyxia is more
commonly associated with spastic
quadriplegic cerebral palsy.
Question
A 6-month-old child presents in your office for rehabilitation assessment. She
was born at full term. There was mild transient respiratory distress at birth.
The patient was noted to be diffusely hypotonic at birth except for normal
cranial nerves. There were no feeding issues once the respiratory distress
resolved within 24 hours. The baby has remained relatively hypotonic since
birth. However, she has become very socially alert and aware and attempts
to use her arms to reach for toys and pick up lightweight objects. She
doesn’t roll. She cannot sit except very briefly when propped and bearing
weight through both arms with elbows extended. On examination, head
circumference is normal, length is normal, as is weight. There is a
pronounced head lag. Arms, while in the supine position, maintain a “jughandle” posture. Reflexes are present but dimished There is no spasticity.
The cranial nerves are normal except for fine fasciculations of the
tongue.The most likely diagnosis is
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(a) myotonic muscular dystrophy.
(b) cerebral palsy.
(c) infantile botulism.
(d) spinal muscular atrophy.
Answer
• (d) Spinal muscular atrophy (SMA)is a term used to
describe a group of inherited disorders characterized
by weakness and muscle wasting due to degeneration
of anterior horn cells of the spinal cord and brainstem
motor nuclei. Three subtypes of autosomal recessive
predominantly proximal SMA have been linked to
chromosome 5q. The majority of cases of SMA type I
present within the first 2 months of life with
generalized hypotonia and symmetric weakness.
Children typically sit only with support. Tongue
fasciculations have been reported in 56%-61% of
patients. Proximal muscles are weaker than distal.
Question
What is the most common cause of
traumatic brain injury in a child under the
age of 1 year?
• (a) Motor vehicle crash
• (b) Near drowning in bath
• (c) Inflicted injuries
• (d) Fall from changing table
Answer
• (d) For infants, more than two-thirds of all
traumatic brain injuries result from falls;
only 8% of these result in moderate or
severe injuries. For preschool children,
falls account for 51% of TBI and motor
vehicle crashes for 22%. For children 8 to
9 years of age, etiology of TBI is evenly
divided between falls, sports, and
recreational activities, and motor vehicle
crashes.
Question
Secondary injury in pediatric brain trauma is
caused by
• (a) hypotension, hypoxia, and
hydrocephalus.
• (b) growing skull fractures.
• (c) coup and contrecoup cerebral
contusions.
• (d) diffuse axonal injuries and punctate
hemorrhages
Answer
• (a) Any disorder that interferes with cerebral perfusion or
oxygenation can cause further damage following traumatic brain
injury. This includes hypotension, hypoxia, increased intracranial
pressure because of cerebral edema, acute hydrocephalus, or
space-occupying lesions. Midline shift or herniation may lead to
infarction because of pressure or traction on cerebral vessels.
Therefore, efforts are made to control intracranial pressure through
fluid and electrolyte management, hyperventilation, and
maintenance of normal blood pressure and oxygenation. Growing
skull fractures result from the arachnoid protruding through a dural
tear, producing a cyst that can contribute to a widening skull deficit,
which usually requires operative repair. This is a complication of
traumatic brain injury but not a secondary injury. Coup and
contrecoup cerebral contusions and diffuse axonal injuries are
examples of primary injury.
Question
To prevent contractures, which position is
the correct placement for children with
major burns?
• (a) Shoulder in external rotation
• (b) Wrist in extension
• (c) Hip in flexion
• (d) Metacarpophalangeal joints in
hyperextension
Answer
• (b) Children with major burn injuries
should be placed in positions that tend to
prevent contractures. These include neck
extension (no pillows); shoulders at 90°
abduction and neutral rotation with elbows,
wrists, hips, and knees extended; feet at
neutral dorsiflexion, metacarpophalangeal
joints at 70° to 90° flexion and finger
interphalangeal joints in full extension.
Question
Bracing for curves developing after age 3,
but before puberty onset (juvenile
idiopathic scoliosis) should commence
when the curve reaches approximately
how many degrees?
• (a) 15°
• (b) 25°
• (c) 40°
• (d) 60°
Answer
• (b) Unlike infantile idiopathic scoliosis, the juvenile type
almost never spontaneously resolves, and owing to the many
years of growth during which progression can take place,
extremely severe curves can develop. Because of the very
poor prognosis of this scoliosis, and the great desire to avoid
fusion at a young age, bracing becomes an extremely
important method of management. Therefore, the standard of
care is to begin bracing when the curve reaches
approximately 25°. It is not necessary to brace curves less
than 20°, and curves as high as 60° can still respond to a
brace. This is a much higher value than for successful bracing
of adolescent idiopathic scoliosis where the upper limit is 40°
to 45°.
Question
In children with spastic cerebral palsy, which
intervention strengthens weak muscles?
• (a) Ankle-foot orthotics
• (b) Tendon transfer surgery
• (c) Intrathecal baclofen
• (d) Functional training program
Answer
• (d) Children with cerebral palsy often have
weakness as part of their disorder.
Treatments such as bracing, tendon
lengthening or transfers, and medications
such as botulinum toxin or intrathecal
baclofen add to this weakness.
Strengthening programs or functional
training programs can help to strengthen
weak muscles.
Question
One of your 4-year-old patients exhibits the
following characteristics: distress over minor
changes in environment, echolalia, lack of
awareness of the existence of feelings in
others, nonparticipation in simple games. The
most likely diagnosis is
• (a) autism.
• (b) cerebral palsy.
• (c) hearing impairment.
• (d) mental retardation.
Answer
• (a) Autism is characterized by echolalia,
inability to play reciprocally, and abnormal
relationships with people. While children
with mental retardation, cerebral palsy,
and hearing impairment may have some of
these features, they do not have all of
them in the absence of autism.
Question
• During discussion with the parents of a 2year-old leukemic patient, you inform them
that significant brain irradiation almost
uniformly produces
• (a) attention deficits.
• (b) focal motor weakness.
• (c) ataxia.
• (d) anosmia.
Answer
• (a) An adverse sequela of intensive pediatric
anticancer therapy is learning difficulty. Impaired
learning can exert a deleterious long-term impact.
Whole brain irradiation for leukemic prophylaxis
results in enlarged cerebral sulci and
ventriculomegaly on cranial imaging.Clinical
symptomatology roughly correlates with scan
findings. Virtually all patients in whom a
substantial portion of the brain is radiated
complain of memory loss and attentional deficits.
Question
A 17-year-old boy from India presents with a
longstanding history of areflexia and asymmetric
muscular atrophy after a febrile illness as a child.
The likeliest site of neurologic pathology is
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(a) myelin sheath of peripheral nerves.
(b) axons of peripheral nerves.
(c) anterior horn cells.
(d) muscle membrane.
Answer
• (c) Poliomyelitis involves the anterior horn
cells. During an acute infection, the virus is
transported to the anterior horn cells
followed by inflammation and loss of spinal
and bulbar motor neurons.
Question
Which finding is normal in newborn infants?
• (a) Extensor tone predominates
• (b) Hands are kept fisted
• (c) Spine is straight when held in sitting
position
• (d) Unable to turn head to side in prone
position
Answer
• (b) In normal newborn infants flexor tone
predominates and hands are kept fisted. In
prone position a normal newborn is able to
turn the head to either side. The newborn
has a rounded spine when placed in
supported sitting.
Question
Which measure is the first sign of respiratory
muscle dysfunction in boys with Duchenne
muscular dystrophy?
• (a) Vital capacity
• (b) Oxygen saturation
• (c) Maximal expiratory force
• (d) Negative inspiratory force
Answer
• (c) Recent studies by McDonald and by Bach showed that
reduction of maximal expiratory force (MEF) to 40%–60% of
normal in the 7- to 14-year-old age group was the first sign of
respiratory muscle dysfunction in boys with Duchenne
muscular dystrophy (DMD). The earlier and more severe
decreases of MEF that are greater than the decreases in
maximal inspiratory force, correspond to the clinically
observed weakness of abdominal muscles, which like
coughing are important in forced expiration. Vital capacity was
not found to decrease until an average of 15–16 years. Low
oxygen saturation is a late manifestation in DMD, developing
after hypercapnia.
•
Question
A 10-year-old child with L4-5 myelodysplasia
and shunted hydrocephalus develops
spasticity in her legs. The most likely
cause of this spasticity is
• (a) shunt malfunction.
• (b) symptomatic Chiari malformation.
• (c) growth.
• (d) tethered cord.
Answer
• (d) Tethered cord is the most common
cause of new onset spasticity in patients
with myelodysplasia. Linear growth does
not cause new spasticity. Symptoms of
Chiari malformation include cranial nerve
disorders and respiratory problems. Shunt
malfunction may be associated with
headaches, vomiting, eye muscle
abnormalities, and sometimes abdominal
symptoms.
Question
Juvenile rheumatoid arthritis (JRA) differs
from adult onset rheumatoid arthritis: in
JRA
• (a) joint destruction occurs earlier.
• (b) large joint involvement is less frequent.
• (c) the cervical spine is involved less
frequently.
• (d) systemic features are more common.
Answer
• (d) Children with juvenile rheumatoid
arthritis are more likely to have systemic
features, have large joints involved, and
have cervical spine involvement. Adults
with rheumatoid arthritis have joint
destruction earlier.
Question
Children with which physical disorder tend to
have higher verbal skills compared to
overall cognitive ability?
• (a) Muscular dystrophy
• (b) Myelodysplasia
• (c) Cerebral palsy
• (d) Autism
Answer
• (b) Children with myelodysplasia have
deceptively good verbal facility that
creates the impression of higher
intellectual functioning than is found on
formal testing (“cocktail party syndrome”).
Children with cerebral palsy, autism, and
muscular dystrophy do not typically
demonstrate this finding.
Question
A 5-year-old boy is brought to your office with pain in his left groin for the last 2
months. He has an antalgic gait and favors his left leg. He has been unable
to play with his siblings because of pain and reports increased severity of
the pain at night. There is no history of trauma. Passive range of motion of
the left hip is extremely painful. Which of the following is most likely?
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(a) The child is not telling the truth about the trauma for fear of being
punished by his parents.
(b) A simple radiograph will demonstrate this problem to be a benign
syndrome that only requires monitoring.
(c) This child is at risk for permanent disability and treatment requires the
use of an abduction brace.
(d) You are very concerned about physical abuse by the parents, since the
child is very quiet when the parents are in the examination room.
Answer
•
This child has Legg-Calvé-Perthes disease. This is avascular
necrosis of the femoral head (also known as idiopathic
osteonecrosis of the femoral head) and typically affects
children between the ages of 4 and 8 years. Boys are affected
4 times more than girls are, and it is unilateral in 90% of
children. It is uncommon in African American children. The
bone dies and loses its structural integrity, leading to collapse
of the femoral head with deformity and arthritis. An abduction
brace is worn all day in an attempt to position the femoral
head in the acetabulum. This will hopefully lead to a more
spherical head of the femur. The femoral head can
revascularize and remodel, but this occurs over several
months. Osteotomy is usually reserved for older children.
Question
What condition casues the typical “myopathic gait”
seen in a young boy with Duchenne muscular
dystrophy with accentuated lumbar lordosis and
toe walking?
• (a) Hip and knee extensor weakness
• (b) Hip flexion and ankle plantar flexion
contractures
• (c) Hip extensor weakness and plantar flexion
contracture
• (d) Hip flexion contracture and knee extensor
weakness
Answer
• (a) The typical “myopathic gait” seen in
early Duchenne muscular dystrophy is
caused by weakness of the gluteus
maximus and quadriceps muscles. In
order to maintain upright posture the child
assumes the hyperlordotic stance.
Contractures of the gastrocsoleus and
iliopsoas muscles occur later in the
disorder.
Question
The most common spinal problem seen with
achondroplasia during childhood is
• (a) kyphosis.
• (b) scoliosis.
• (c) spinal stenosis.
• (d) low back pain.
Answer
• (a) While scoliosis may occur in children with
achondroplasia, it is less common than
kyphosis, which begins in infancy. Spinal
stenosis occurs frequently in individuals with
achondroplasia, with 38 years being the
average age of symptom onset. Low back
pain is extremely frequent in adults with
achondroplasia, but rare in children.
Progressive kyphosis that occurs in infants
and young children with achondroplasia is
treated with a spinal orthosis.
Question
What is the pathophysiology of Duchenne
muscular dystrophy?
• (a) merosin deficiency
• (b) abnormally low levels of dysferlin
• (c) absence of dystrophin
• (d) mutations of alpha-sarcoglycan
Answer
• (c) The absence of dystrophin is the basis of the
pathophysiology of Duchenne muscular dystrophy (DMD).
Most genes in the affected area of the X chromosome encode
for components of the dystrophin-glycoprotein complex
(DGC), an assembly of transmembrane and membraneassociated proteins that form a structural linkage between the
F-actin cytoskeleton and the extracellular matrix in muscle.
The proteins that comprise the DGC are organized into 3
subcomponents, the cytoskeletal proteins, the sarcoglycans
and the sarcospan. Many of the different types of muscular
dystrophies arise from primary mutations in genes encoding
components of this complex. However, the other choices
noted above are not involved in DMD or Becker MD.
Deficiencies in those proteins are associated with forms of
limb girdle muscular dystrophy.
Question
Your 6-month-old patient had burns to his
head and both arms in a house fire. What
approximate percent of his total body
surface area (TBSA) was burned?
• (a) 37
• (b) 18
• (c) 27
• (d) 49
Answer
• (a) An infant’s head is approximately 19%
and each arm constitutes 9% of the total
body surface area (TBSA). In adults and
older children the head is approximately
9% of the TBSA.
Question
Which joints are most commonly involved in
juvenile rheumatoid arthritis?
• (a) Shoulder, hip, fingers
• (b) Atlantoaxial, costomanubrum, hip
• (c) Sternomanubrum, shoulder, sacroiliac
• (d) Elbow, hip, temporomandibular
Answer
• (d) The elbow is involved 90% of the time
in juvenile rheumatoid arthritis (JRA), the
temporomandibular and hip 50% each.
The shoulder is involved about 8% of the
time in early JRA and about 33% later.
Question
You are asked to evaluate an 8-month-old child
with developmental delay. On exam you find
low tone, but brisk deep tendon reflexes at
the knees and biceps, full passive range of
motion, and poor head and trunk control. This
child’s diagnosis is likely
• (a) myotonic dystrophy.
• (b) cerebral palsy.
• (c) spinal muscular atrophy.
• (d) Hunter’s syndrome.
Answer
• (b) This patient presents with hypotonia,
weakness, and hyperreflexia, a combination
most commonly seen in central nervous
system lesions such as cerebral palsy. A
child with a neuromuscular disorder would
not have hyperreflexia with the hypotonia and
weakness. In severe cerebral palsy it is
common to see early hypotonia with brisk
reflexes that changes to hypertonia as the
child gets older.
Question
Which endocrine abnormality is most likely
to occur 5 years after severe traumatic
brain injury in a 2-year-old girl?
• (a) Diabetes insipidus
• (b) Precocious puberty
• (c) Hypothyroidism
• (d) Hyperparathyroidism
Answer
• (b) Precocious puberty occurs in up to
50% of girls who sustain a severe
traumatic brain injury (TBI) in early
childhood. Diabetes insipidus is an early
complication of TBI. While other endocrine
abnormalities may occur, they are less
common.
Question
What percentage of American children with
myelomeningocele requires a shunt to
manage hydrocephalus?
• (a) 10–20
• (b) 25–50
• (c) 60–70
• (d) 80–90
Answer
• (d) Seventy-five percent of lesions in spina
bifida cystica (myelomeningocele) affect
the lumbosacral spine. Ninety percent of
children with spina bifida have
hydrocephalus that requires a shunt for
management.
Question
A 16-year-old with Duchenne muscular dystrophy
presents to your office with a 3-month history of
worsening shortness of breath and pressure-like
chest pain. His pulmonary function testing has not
changed significantly. The most likely cause for his
complaints is
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(a) decreased cardiac output.
(b) bacterial pneumonia.
(c) pulmonary embolus.
(d) aspiration pneumonia.
Answer
• (a) Given that his pulmonary function has not
changed, the most likely cause for his shortness of
breath is cardiac decompensation due to
cardiomyopathy. Respiratory failure due to
neuromuscular weakness would typically correspond
to worsening of pulmonary function testing. Bacterial
and aspiration pneumonia would both present with
much more acute symptoms. Boys and men with
Duchenne muscular dystrophy rarely get deep venous
thromboses or pulmonary emboli. If left untreated, the
patient will likely develop congestive heart failure from
cardiomyopathy. The decreased cardiac output usually
responds to treatment with digoxin and ACE-inhibitors.
Question
A normal 6-month-old infant may
demonstrate which reflex?
• (a) Rooting
• (b) Automatic walking
• (c) Plantar grasp
• (d) Posterior protective extension
Answer
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(c) Rooting and automatic walking reflexes are present at birth, and are
integrated by 4 months of age. Posterior protective extension does not
appear until 7 to 8 months of age. Plantar grasp is present at birth and not
integrated until after independent walking occurs at approximately 12
months of age.
Reflex Age of Emergence Age of Suppression (or
Integration)
Moro Birth 4–6 months
Rooting Birth 4 months
Asymmetric tonic neck reflex (ATNR)
1–3 months 6–7 months
Plantar grasp Birth 12–14 months–ie, when walking well
Automatic walking Birth 3–4 months
Posterior protective extension 7–8 months
Question
Which statement is TRUE about swallowing in
infants?
• (a) Sucking and swallowing are well-coordinated
for oral intake by 34 weeks of gestation.
• (b) The infant’s larynx is low, about the level of the
sixth cervical vertebra.
• (c) The infant’s tongue fills less of the oral cavity
than the adult’s tongue.
• (d) Oral breathing occurs at birth and may interfere
with sucking.
Answer
• (a) Sucking and swallowing are wellcoordinated at 34 weeks’ gestation. Because
the infant’s tongue is more anterior than the
adult’s, the tongue fills more of the oral cavity
than in the adult. The larynx in the infant is
high, about at the C2–3 level. Newborn
infants are obligate nose breathers and oral
breathing is not observed until 3 to 4 months
of age.
Question
You are performing a consult on an 8-year-old child
who has sustained a traumatic brain injury. The
child has hyperthermia, hypertension, tachycardia,
and rigidity. The best management for this child
would be
• (a) Propranolol (Inderal).
• (b) Baclofen (Lioresal).
• (c) Nonsteroidal anti-inflammatory drugs
(NSAIDs).
• (d) Amantadine (Symmetrel).
Answer
• (a) Fever in a child with a severe traumatic
brain injury should be investigated and
infections treated with appropriate antibiotics.
In the absence of infection, the fever in
central autonomic dysfunction is poorly
responsive to nonsteroidal anti-inflammatory
drugs. Baclofen may help to control the
spasticity, but propranolol is more effective in
controlling the hypertension, tachycardia, and
hyperthermia.
Question
The Education for All Handicapped Children Act
(EHA, PL 94-142), passed in 1976, and the
Individuals with Disabilities Education Act (IDEA,
PL 105-17), passed in 1997, guarantee that
children with disabilities have
•
• (a) education in special schools.
• (b) medical care at school.
• (c) education in the least restrictive environment.
• (d) education in regular classrooms.
•
Answer
• c) The Education for All Handicapped
Children Act and the Individuals with
Disabilities Education Act guarantee children
with disabilities education in the least
restrictive environment. They also guarantee
necessary health care be provided in the
school environment (eg, intermittent
catheterization) but do not require medical
care be provided.
Question
Randomized controlled trials examining
intrathecal baclofen (ITB) use in children
with cerebral palsy show that children who
receive ITB have
• (a) improved upper extremity function.
• (b) reduced spasticity in lower extremities.
• (c) improved walking and transfers.
• (d) improved knee range of motion.
Answer
• (b) A comprehensive review of published
English language studies on intrathecal
baclofen (ITB) showed evidence of
statistically significant improvement in upper
and lower extremity tone with ITB use in
children with cerebral palsy (CP). Other
reported improvements with ITB in children
with CP are either anecdotal or not
substantiated by randomized controlled trials.
•
Question
The most common congenital limb deficiency is
a
• (a) transverse tibial and fibular limb
deficiency (below-knee limb deletion).
• (b) transverse transmetacarpal limb
deficiency (partial hand deletion).
• (c) longitudinal fibular deficiency (fibular
hemimelia).
• (d) transverse radial limb deficiency (belowelbow limb deletion).
Answer
• (d) The left short transradial congenital
limb deficiency (below-elbow limb deletion)
is the most common congenital limb
deficiency. It is thought to be caused by a
clot which occludes the artery, resulting in
resorption of the distal limb, often leaving
nubbins of fingers at the end of the stump.
Question
46. You are covering for your partner who is a
pediatric physiatrist. Today, you are admitting
a 2-year old girl who sustained a burn. You
suspect that this girl is a victim of a nonaccidental injury (ie,child abuse) because you
see
• (a) non-symmetrical burns.
• (b) splash marks in a scald-type injury.
• (c) injuries in various stages of healing.
• (d) non-uniform burn depth.
Answer
•
(c) Non-accidental injuries account for approximately
10% to 28% of pediatric burns. Of all nonaccidental
injuries experienced by children, 10% are due to
burns. Among abused children 30% to 70% suffer a
repeat injury. Signs of abuse include injury that does
not correlate with the type and location of injury
observed on examination; uniform burn depth; sharp
lines of demarcation between burned and non-burned
areas; symmetrical wounds (eg, in a stocking or glove
pattern); an absence of splash marks in scald injuries;
the presence of other injuries in various stages of
healing.
Question
A 6-month-old infant presents to you with hypotonia.
You perform an electrodiagnostic study which
shows normal motor conduction velocity, normal
sensory conduction velocity and amplitude, normal
motor units, and occasional fibrillations and
positive waves. The most likely cause of these
findings is
• (a) congenital myotonic dystrophy.
• (b) spinal muscular atrophy.
• (c) metachromatic leukodystrophy.
• (d) infantile botulism.
Answer
• (a) Hypotonia in infants can be caused by
many abnormalities, including cerebral
lesions, spinal cord pathology,
polyneuropathies, and myopathies. These
electrodiagnostic findings are most
consistent with congenital myotonic
dystrophy.