Pediatrics Final Exam Study Guide
Pediatrics Final Exam Study Guide
1. Which of the following statements is TRUE regarding harmless cyanosis in a B. Describes acrocyanosis which is normal in the newborn.
neonate? Acrocyanosis is the pallor of the hands and feet while the central
part of the newborn’s body is warm. This is a normal
A. Appears with red and pale halves compensatory mechanism of the newborn to conserve heat and
B. Hands and feet are cold prevent hypothermia.
C. Pallor is common
D. Associated with general circulatory instability Not A. Harlequin dyschromia or color change - division of body
from forehead to pubis into red and pale halves; transient and
harmless
B
Not C. Pallor may be caused by anemia, asphyxia, shock, or
edema; note that without being anemic, postmature infants
may tend to have paler and thicker skin that term or premature
infants
2. While doing your examination on the skull, you identify a hard, A. Craniosynostosis is a birth defect in which the bones in a
non-movable ridge over the suture in an abnormally shaped head. You are baby’s skull fuse together too early before the brain is fully
quick to conclude that this is: formed. Persistent asymmetry may indicate craniosynostosis
(early closure of the sutures leading to an abnormal head shape).
A. Craniosynostosis
B. Craniotabes Not D. Temporary asymmetry from passage through the birth
C. Molding canal is normal (sutures overlap to allow passage through the
D. Overlapping sutures birth canal).
A
Not B. Craniotabes is the softening or thinning of the skull seen
mostly with the occipital and parietal bones. The bones are soft
and when pressure is applied they will collapse under it.
5. Which of the following statements is true regarding thermoregulation? B. Immediate drying is important to prevent evaporative heat
loss that can lead to hypothermia. To prevent heat loss via
A. Neutral thermal environments are the same for all infants. evaporation, dry the wet baby immediately after birth and cover
B. Evaporative heat loss is vital at birth it with a warm, dry cloth.
B
C. Highest metabolic rate is achieved when the infant is warmed above
normal temperature Not A. NTE is the maintenance of the infant’s temperature with
D. Servocontrol devices are not for sick neonates a stable metabolic state along with minimal oxygen and energy
expenditure. This is best achieved when infants maintain a
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temperature between 36.5C to 37.5C. NTE is a function of the
size and postnatal age of an infant; larger and older infants
require lower environmental temperatures than smaller,
younger infants.
Not D. The smaller and more immature the infant, the higher
the environmental temperature required. Infant warmth can be
maintained by heating the air to a desired temperature or by
servo-control.
[Nelson’s p. 903]
Neonatal Assessment 1: Normal Newborn [PED 1.02 p. 2]
6. You are attending to an infant who has remained in the hospital for longer
than 48 hours. You should perform a discharge examination within ____ hours A. Normal and stable vital signs for at least 12h prior to
prior to discharge. discharge; axillary temperature between 36.5 and 37.4°C,
respiratory rate below 60bpm and no other signs of respiratory
A
A. 12 distress and an awake heart rate of 100–160 bpm
B. 6
C. 48 Neonatal Assessment 2: PE of the Newborn [PED 1.02 p. 2]
D. 24
7. Which of the following statements is associated with the occurrence of D. Abusive head trauma (AHT) results in the most significant
retinal hemorrhages? morbidity and mortality. Abusive injury may be caused by direct
impact, asphyxia, or shaking.
A. APGAR score 3.5 at 1, 5 mins respectively Subdural hematomas, retinal hemorrhages, particularly when
B. Multiple gestation extensive and involving multiple layers, and diffuse axonal
C. Forceps extraction deliveries injury strongly suggest AHT, especially when they co-occur.
D. Vacuum-assisted deliveries D Retinal hemorrhages are an important marker of AHT.
Whenever AHT is being considered, a dilated indirect eye
examination by a pediatric ophthalmologist should be
performed. After normal spontaneous vaginal delivery, 25% of
term neonates may have retinal hemorrhages (lower with
caesarian section, higher with vacuum assisted delivery)
[Nelson’s]
10. Which statement refers to the physical examination finding characterized C. Congenital dermal melanocytosis (formerly known as
as well demarcated pigmentation noted over the buttocks of an infant? “Mongolian spot”): dark-blue pigmentation or slate-blue
well-demarcated areas of pigmentation, usually on the lower
A. Abnormality over lumbar spine back, buttocks; tend to disappear within 1st year
B. Vascular benign lesion C
C. Disappearance in the 1st year Not A because it describes spina bifida
D. Benign lesion containing eosinophil Not B/D because these describe erythema toxicum
11. Michael is 3 years old and was brought to the OPD for a well-child visit. On
PE, the anthropometric measurements were as follows: weight= 15 kg; C. See images for formulas
height= 96 cm. Using the Waterlow Classification, Michael’s nutritional status
can best be described as:
C
A. Not wasted, mildly stunted
B. Mildly wasted, not stunted
C. Not wasted, not stunted
D. Mildly wasted, mildly stunted
12. Risk factors with significant effects on in early child development includes A. Calcium deficiency in early child development may cause
the following, EXCEPT: Rickets but this does not satisfy the requirements for
satisfactory development provided below. It applies more to
A. Calcium deficiency growth spurt which applies more in the adolescence period.
B. Malnutrition that is chronic and severe enough to cause growth
stunting Not B. Applies to second bullet in the picture below: There
C. Iron deficiency anemia should be an environment that provides adequate nutrition
D. Inadequate stimulation or learning opportunities
Not C. Iron deficiency anemia in early child development may
lead to behavioral disturbances.
● Both iron deficiency and iron-deficiency anemia are
associated with impaired neurocognitive function in
infancy. Iron-deficiency anemia is also associated with
later, possibly irreversible, cognitive defects. Although
there is support for iron deficiency with or without anemia
causing these defects, it has not been established
unequivocally. Given the frequency of iron deficiency and
iron-deficiency anemia and the potential for adverse
neurodevelopmental outcomes, minimizing the incidence
of iron deficiency is an important goal. [Nelson’s}
14. The following statement is TRUE of child development: C. The sequence of development is the same in all children
15. It is the period of psychosexual development when children become C. Phallic Stage: sexual identity; resolving Oedipus/Electra
attracted toward the parents of the opposite sex complex
16. Case: Marilou is 14 years old, seen at OPD Clinic because of skin rashes.
On physical examination of the breast and genitalia respectively, the following
were (+) breast budding and sparse, long, straight pubic hairs. Marilous’s
sexual maturity rating is at:
A. V
B. IV
C. II
D. I
E. III
17. Physical characteristics that heralds the onset of puberty in males: C. Recall. 2021 feedback.
18. The following is TRUE of growth patterns in adolescents: B. First sign of puberty in girls: Breast budding (Thelarche)
First sign of puberty in boys: Testicular enlargement
A. Males experience a sudden increase in height earlier but ends this B
sooner than females Not A. Females experience a sudden increase in height earlier
B. The first sign of puberty in females is breast budding but end this sooner.
19. The following statement/s is/are true regarding growth spurts during
adolescence:
Not A. PHV in females average 2cm per year less than males
Not B. PHV occurs with PWV in males
Not C. PWV occurs 6-9 months after of the PHV in females
A. 30 B. Feeding cues
B. 60 ● Breastfeeding should be initiated within the first
C. 10 hour (20-60 minutes)
D. 15 B ● First, there is a 15-20 minute rest period for both
baby and mother
23. The nutritional parameter weight for length/height signifies that nutrient Weight: Best index of growth and nutrition; used to measure
loss is: ACUTE nutritional status of children
Height: reliable criterion for growth; used to measure CHRONIC
A. Severe nutritional status of children
B. Mild
C. Acute Not A and B because classifying nutrition as mild or severe
D. Chronic depends on values and not just the parameter. It is primarily
used in GRADING malnutrition (See Waterlow Classification
below)
24. The following is a feature of iron deficiency anemia: D. The specific sign for iron deficiency is pallor. Consequences of
iron deficiency anemia (IDA) include: tachycardia, dizziness and
A. Cheilosis pallor. Signs and symptoms of IDA include: pale conjunctiva,
B. Easy bruisability pale oral mucosa, palmar pallor, pale nail beds
C. Constipation
D. Spooning of nails D Not A. observed in vitamin B deficiency
Not B. observed in vitamin C deficiency
Not C. chronic functional constipation is linked to vitamin D
deficiency
25. Which of the following condition/s is/are absolute contraindication/s to B. Inborn errors of metabolism in the baby (e.g. Galactosemia) is
breastfeeding? an absolute contraindication to breastfeeding.
26. Vitamins A D E K are better absorbed when the diet is high in:
A. Water
B. Fats B. Vitamins A D E K are lipid soluble vitamins.
C. Carbohydrates B
D. Proteins Nutrition [PED 2.02]
28. Water content in human milk comprises __ %: A. Human milk comprises 87% water.
A. 90
B. 50
C. 25
D. 75
A
29. Anthropometry, an important aspect in nutritional assessment, includes A. Growth parameters include weight for length and
this/these parameter/s: length/height for age, which determines wasting and stunting
status, respectively.
A. Wasting and stunting status
B. Biparental height Not B. Biparental height or midparental height is the child's
C. Skin fold test projected adult height based on the heights of the parents
D. Physical signs of micronutrient deficiencies A
Not C. It is just an assessment of body fat content
30. You were asked to monitor the rooming in unit by checking the latch on D. A good latch on position includes: chin should be touching the
positions of the baby to the mother’s breast. The following correct position breast, mouth wide open and not pursed, lower lip turned
includes: outward, and areola showing above.
A. Lip should suck the nipple Not A. The baby needs to take more than the nipple into his
B. Lip should be pursed mouth. He needs to get far enough onto the breast so that his
C. Baby’s upper lip should be outward lower jaw and tongue can massage the pools of milk that lie in
D
D. Baby’s lower lip should be outward the lower part of the areola.
31. What is the average head circumference of a healthy normal newborn full
term baby in cms? D. According to Doc. Battad, the average head circumference is
35 + 2 cm. However in Nelson and Navarro, the normal head
A. 32-33 D circumference is 32-37 cm at term.
B. 30-31
C. 36-37 Breastfeeding and Nutrition [PED 2.01]
D. 34-35
32. The family history is important in determining if there are relatives with C. In eliciting questions regarding family history, you may ask
similar illness that may be hereditary. Which one of the following items should about consanguinity, hereditary disorders, and developmental
be asked for in eliciting the family history? problems
A. At what age of the patient was the onset of illness? Not A. Question for Clinical History
B. Are there environmental factors affecting the illness? Not B. Question for Social History
C. Is there any degree of consanguinity between the parents? Not D. Question for identifying the child at risk
C
D. Is the illness progressive acute?
● Determining the nature of the problem
○ Acute vs Chronic
○ Static vs Progressive
34. The presence of retinal hemorrhages on fundoscopic examination beyond B. Retinal hemorrhage from shaken infant syndrome is due to
the early neonatal period is suggestive of which one of the following? the acceleration and deceleration forces generated by the
shaking of the head.
A. Hemophilia A
B. Non-accidental trauma (Shaken Infant Syndrome) Not A. Chronic subdural/epidural hemorrhage : due to
C. Birth injury non-accidental trauma like in patients with Shaken Infant
D. Congenital CMV infection Syndrome or bleeding disorder (i.e. Hemophilia A)
B
Not C. This is not beyond early neonatal period
36. Dr. Chacon met up with the barangay chairman and the school principal to C. Collaborates with partners and stakeholder
organize a school feeding program for the malnourished children in the
community. Not A. ensures that other healthcare workers practice good
rapport and provide good service to patients
What role is she taking on as a Community Pediatrician?
Not B. evaluate the progress of implementation of the activity
A. Supervisor C and assess the strengths or weakness that need to be adjusted in
B. Program Evaluator the program
C. Social Mobilizer
D. Resource Mobilizer Not D. works together with LDU and people in community to
source out funds for project/s
37. Based on the 2018 DOH Data, what cause of mortality in the pediatric age
group is unique to the age group of 10-14 years?
A. Leukemia
B. Disease of the nervous system D. Intentional self-harm part of the 10 leading Cause of
C. Accidental drowning and submersion Adolescent Mortality (10-14 Years)
D. Intentional self-harm
Community Pediatrics [PED 3.01]
41. Which among the choices show the correct sequence in performing the B. Immediate drying > Skin-to-skin contact > Delayed cord
Essential Intrapartum Newborn Care (EINC)? clamping and cutting > Non-separation of mother from infant
A. Non-separation of mother from infant > Skin-to-skin contact > Four Principles in EINC:
Delayed cord clamping and cutting > Administering vaccines Immediate drying (30-60 seconds) > Skin-to-Skin contact
B. Immediate drying > Skin-to-skin contact > Delayed cord clamping and (within the next 30 seconds) > Proper cord clamping and cutting
cutting > Non-separation of mother from infant B (1 to 3 minutes) > Non-separation of Baby from Mother and
C. Skin-to-skin contact > Non-separation of mother from infant > initiation of breastfeeding (60 - 90 minutes)
Initiating breastfeeding > Delayed cord clamping and cutting
D. Suctioning of secretions > Immediate drying > Skin-to-skin contact > Not D. Routine suctioning is avoided especially if the baby has
Non-separation of mother from infant exhibited crying and proper breathing.
43. Which among the age and recommendation pairs is INCORRECT based on B. From 6 months onwards, there would be an apparent “energy
the Infant and Young Children Feeding (IYCF) recommendations? gap” that needs to be filled in by the complementary feeding of
semi-solids (not solids)
A. 12-24 months: add variety of solid food
B. 6 months: introduce solids Not A. At 12-18 months, the baby gains the ability to try
C. 7-11 months: encourage finger feeding different tastes and flavors. Bite-sized solid foods are much
D. 0-6 months: breastfeeding only B more tolerated.
Not C. At 7 months onwards, the development of fine motor
skills such as pincer grasp occurs which enables baby to finger
food eventually
Not D. Infants should be exclusively breastfed for the next 6
months of life
Community Pediatrics [PED 3.01]
44. Which system of care pertains to the collaboration of the community A. Medical neighborhood: coordinated and efficient integration
pediatrician with the subspecialists and the healthcare providers to between primary care pediatricians and subspecialists,
streamline therapeutic goals and services? including integrated EHRs, efficient coordinated appointment
scheduling, and enhanced communication
A. Medical neighborhood
B. Population Health Approach Not B. Population Health Approach emphasizes on identifying
C. Patient neighborhood and addressing the needs of individuals and families who do not
D. Patient and family-centered medical home seek regular care, or whose care is episodic and suboptimal from
a prevention or management standpoint
A
Not C. Patient neighborhood was not discussed under systems
of care
45. Dr. Salazar visited the barangay health center to oversee whether the D. Supervisor: checks guidelines for quality care and makes sure
process flow of essential newborn care being done by the midwife and health these are followed and ensures that the other healthcare
workers follows the current recommendations. workers practice good rapport and provide good service to the
patients.
What role is he taking on as a Community pediatrician?
Not A. Resource mobilizer works together with LGUs and people
A. Resource mobilizer in the community to source out funds for projects
B. Planner
D
C. Program evaluator Not B. The planner identifies and prioritizes most important
D. Supervisor issues and formulates goals to address the issues
47. Which of the following statements best describes Primary Health Care
(PHC)?
48. Which factor contributes to the high risk of further transmission of polio? A. Sub-optimal surveillance performance for acute flaccid
paralysis is a HIGH risk for further transmission at a NATIONAL
A. Poor surveillance for acute flaccid paralysis level.
B. Improved sanitation and hygiene conditions
C. Chronic optimal immunization coverage Not B. Poor sanitation and hygiene conditions
A
D. Decreasing detection of human cases and environmental samples Not C. Chronologically sub-optimal immunization coverage
Not D. Increasing number of human cases and (+)
environmental samples
49. Which among the current issues in the Philippines has a direct detrimental
effect on child health and well-being?
C. Persistent poverty directly affects the overall health of the
A. Ethnic diversity C
child that can lead to severe and chronic stunting and wasting
B. Democratic republic
C. Persistent poverty
Community Pediatrics [PED 3.01]
D. Rapid industrialization
50. In monitoring nutritional status, which unfavorable outcome is most D. 33% of children under 5 years are stunted. Household wealth
prevalent and emphasizes chronic undernutrition? is a significant predictor of sunting.
A. Obesity Not A. 3.7% females and 4.4% males under 5 years old are
B. Wasting D overweight
C. Underweight Not B. 7% of children under 5 years old are wasted
D. Stunting Not C. 21.5% of children under 5 years are underweight
51. Which factor greatly increased the scope and coverage of the Newborn
Screening (NBS) program?
54. Which current issue in the Philippines portrays the limited supply of basic C. Shortage of well-trained and qualified professionals cross all
services to children and their families? sectors portray issues in supply
A. Outdated sociocultural norms, practices and beliefs Not A. Portrays issue in enabling environment
C
B. Insufficient awareness and knowledge of their basic rights Not B. Portrays issue in demand
C. Shortage of qualified professionals across all sectors Not D. Portrays issue in enabling environment
D. Restricted amount of quality of data on children available for use
Community Pediatrics [3.01]
57. In doing nutrition counselling, what food would you recommend? Preventine Pediatrics [3.02]
A. Sumptuous bowl of instant noodles enriched with vitamin A, iron and B. having a well-balanced diet will provide the adequate
iodine B nutrition needed by the child
B. Well-balanced meal with rice, meat, fruits and vegetables
C. Delightful mango-frosted cake topped with ice cream Not A,C,D because these are diets with too much calories and do
D. “Kiddie Meal” from a well-loved fast food chain not provide the best source of nutrients
58. You decide to discharge a newborn infant before the 48th hour of life
because_________?
60. In which case would you request for a Complete Blood Count as screening
for anemia?
62. For patients with any signs of physical or sexual abuse, where should an
immediate referral be made?
63. Newborn screening samples may be taken before 24 hours from birth if A. For patients who are preterm (<37 weeks), low birth weight
blood transfusion will be done to patients born less than 37 weeks, with a (<2000 grams), and sick neonates (receiving intensive care),
birth weight of less than 2kg and those receiving intensive neonatal care. may have a blood sample taken before 24 hours from birth if
blood transfusion will be done but otherwise a sample should be
A
A. True taken immediately after 24 hours from birth and a repeat
B. False screening should be collected at the 28th day of life
64. For children with elevated blood pressure, you have to:
65. What is the recommended once daily dose (in ml) and duration of iron
supplementation for low birth weight infants, using drops with 15mg
elemental iron/0.6ml:
67. Stage 1 Hypertension for 1-13 years old is defined as having a blood
pressure of:
70. The objectives of the Essential Intrapartum and Newborn Care (EINC)
include/s:
71. For children with Stage 2 Hypertension, you have to: B. For Stage 1 and Stage 2 Hypertension, hypertensive patients
must be referred to subspecialist for further investigation and
A. Encourage healthy diet, sleep, and physical work management
B. Refer to the subspecialist for further investigation and management
C. Counsel on physical management and diet management, if obese, Not A. Indicated for normotensive patients
B
must be done Not C. Indicated for patients with elevated BP
D. Start statins Not D. Not specifically identified as an intervention
72. What is the recommended preparation, once daily dose and duration of Table 12: Iron Supplementation
iron supplementation for a 3 year old? Targets Preparation Dose/duration
A. Drops: 15mg elemental iron / 0.6ml, 0.6mL for 3 months Low birth weight Drops: 15mg 0.3mL once a day
B. Syrup: 30mg elemental iron / 5mL, 5mL for 3 months elemental iron / to start at 2 mos
C. Drops: 15mg elemental iron / 0.6mL, 0.6mL for 6 months 0.6mL until 6 mos
D. Syrup: 30mg elemental iron / 5mL, 5mL for 6 months B
Infants 6-11 mos Drops: 15mg 0.6mL once a day
elemental iron/ for 3 mos
0.6mL
73. The Expanded Newborn Screening increased the screening panel of C. Expanded Newborn Screening (December 2014) includes 28
disorders from 6 to ___ disorders. disorders that can be screened. Some of the additional disorders
that can be detected include:
A. 26 - Hemoglobinopathies
B. 27 - Disorders of amino acid and organic acid metabolism
C. 28 C - Disorders of fatty acid oxidation
D. 29 - Disorders of carbohydrate metabolism
- Disorders of biotin metabolism
- Cystic fibrosis
A. Vital signs
B. Urine output
C. All of the above
D. Weight gain/loss
77. What laboratory test would help in determining the cause of metabolic
alkalosis?
A. Urine chloride
B. Urine potassium A
C. Arterial blood gas
D. Serum sodium Not C. This is generally used to evaluate acid base disorders
79. What is the most abundant extracellular cation? PISO = Potassium In, Sodium Out
A. Potassium
B. Phosphorus
C. Sodium C
D. Magnesium
A. Incubator
B. Oliguria
C. Humidified Ventilator
D. Radiant warmer D
A. Albumin
B. Lactated Ringer’s Solution
C. Half normal saline
D. Normal Saline Solution
B
84. This is a necessary cofactor for enzymes, membrane stability and nerve
conduction?
A. Phosphorus C C. Recall
B. Sodium
C. Magnesium
D. Potassium
C. Recall
85. A 4 year old male came in with signs of moderate dehydration.
You will use ____ cc/kg to compute for his fluid deficit
A. 50
B. 30
C. 60
D. 100 C
Fluids & Electrolytes [PED 3.03]
86. What complication happens when sodium is rapidly decreased in the D. Recall
treatment of chronic hypernatremia?
A. Severe
B. Moderate
C. No signs
D. Mild
A. Hyperosmolarity
B. Alkalosis
C. Beta-adrenergic agonist
D. Insulin
91. What ECG change is associated with hyperkalemia? Recall. ECG changes
Not B. Hypokalemia
● Flattening T waves (first to be seen)
● ST segment depression
● Appearance of U wave
● Ventricular fibrillation and torsades de pointes - only
in the context of underlying heart disease
92. What is the most devastating complication of untreated hypernatremia? B. Brain Hemorrhage is the most devastating consequence of an
untreated hypernatremia
A. Central Pontine Myelinolysis
B. Brain hemorrhage
C. Profound dehydration
D. Thrombotic complications
93. Decreased intravascular volume stimulates? D. “When there is reduced ineffective intravascular volume,
RAAS regulates renal sodium excretion”
A. Atrial Natriuretic Peptide
B. Antidiuretic Hormone Not A. Synthesis of ANP is stimulated by volume expansion
C. Thirst inhibiting sodium absorption and facilitating excretion
D
D. Renin-Angiotensin System Not B. Secretion of ADH is stimulated by increase in osmolality
Not C. Thirst is stimulated when serum osmolality increases
together with volume depletion
95. What is the priority in the treatment of hyperkalemia? A. This is done to prevent life threatening arrhythmias, given
over a few minutes and its action is immediate
A. Stabilize the cardiac muscle using calcium gluconate
B. Infusion of sodium bicarbonate to correct concomitant acidosis A Not A,B and C. These are ways of reducing potassium but are
C. Give salbutamol nebulization to shift potassium intracellularly not the priority in stabilizing hyperkalemia.
D. Discontinue all sources of potassium
Fluid & Electrolytes [PED 3.03]
96. A child was noticed to have upward and slanted palpebral fissure and a B. The case presents the clinical features of Trisomy 21 which is
protruding large wrinkled tongue. She also has mild mental and growth caused by multiple non-disjunction. 1% of Trisomy 21 is mosaic
retardation. History revealed hypotonia at birth. This syndrome is mostly due while 4% is due to Robertsonian Translocation.
to
Not A. This applies to Non-Mendelian Inheritance particularly
A. DNA instability Triple Repeat Expansion Disorders such as Fragile X syndrome,
B. Multiple non-disjunction Myotonic dystrophy, Huntington disease, Spinocerebellar
B
C. Epigenetic modification ataxias.
D. Gene silencing
Not C. This applies to Non-Mendelian Inheritance particularly
Genomic Imprinting. Epigenetic Modification happens when
genetic change does not change the DNA nucleotide sequence.
97. On PE, a newborn was apparently healthy looking except for webbing of A. The observed clinical features are due to Turner Syndrome
the neck and swelling due to fluid accumulation over the dorsum of both 45X which is diagnosed by karyotyping. The laboratory
hands and feet. Which of the following procedures will help you diagnose this procedure is used for Trisomy cases.
newborn?
Not B. Turner syndrome is not detected through Newborn
A. Karyotyping Screening.
B. Newborn screening ● This procedure detect genetic and metabolic
C. DNA sequencing disorders in newborns that may lead to mental
D. Linkage analysis retardation and even death if left untreated
A
● Performed after 24 hours of life but not later than 3
days from complete delivery of the newborn
98. A 6 month old infant was noted to be fussy and restless than normal. He B. Musty odor of urine, fussiness, restlessness, and seizures are
was also noted to have several episodes of vomiting and seizures. On PE you all manifestations of Classic Phenylketonuria (PKU). PKU is
noted the skin to be fair but dry and you smelled musty odor of his breath and caused by a deficiency in phenylalanine hydroxylase, the
urine. What would be the most appropriate therapy for this infant? enzyme that converts phenylalanine to tyrosine. Therefore there
is a buildup in phenylalanine that can damage the nervous
A. Pharmacologic treatment B system and cause learning disabilities, behavioral difficulties,
B. Dietary manipulation and epilepsy. Treatment is through dietary modification (low
C. Co-enzyme supplementation protein diet, Phe-free formula, avoidance of aspartame,
D. Replacement therapy breastfeeding, limited amino acid consumption, BH4
supplementation, etc)
[3.05 Genetic Pediatrics]
A. Missense
B. Nonsense
C. Silent A. Hemoglobin S is the type of hemoglobin in Sickle Cell Disease.
D. Frameshift A mutation causes GAG to become GTG, thereby replacing
glutamic acid with valine at the 6th position of the beta chain of
hemoglobin, producing Hemoglobin S. A missense mutation is
the substitution of an amino acid for another that affects
protein function or stability. This is what is seen in Sickle Cell
disease.
A. Gene therapy
B. Phototherapy
C. Dietary modification
D. Co-enzyme supplementation
101. The phenotypes associated with single gene disorders can vary from one B. Commonly seen in autosomal dominant disorders, variable
patient to another based on the severity of the change affecting the gene and expressivity causes phenotypes to be expressed in varying
additional modifications caused by genetic, environmental, and or stochastic degrees among family members or to have different
factors. This is termed as: manifestations in each generation
A. Founder effect Not A. Founder effect is the reduction in genetic variation that
B. Variable expressivity results when a small group from a population migrates and
C. Mosaicism settles in a new population. This may impact the population
D. Reduced penetrance causing more of a gene or less of a gene.
B
Not C. In Mosaicism, only a portion of cells making up a person’s
body are affected by the gene/chromosomal defect or genetic
disorder.
102. A 16 year old adolescent female was noted to have delayed growth and B. Sickle cell disease is described as Missense (Under
puberty. Her past history also showed several admissions due to unexplained Substitution) where glutamic acid is replaced by valine at the
pain and acute chest syndrome. Her condition is caused by a mutation due to: 6th position of the beta chain of hemoglobin. Signs and
symptoms include acute chest pain due to vaso-occlusive
A. Deletions properties, in addition to growth retardation, delayed sexual
B. Substitutions B maturation and being underweight.
C. Frameshift mutations
D. Insertions Not A, B and C
Missense is under Substitutions and not the other Genetic
Variations.
[3.05 Genetic Pediatrics]
103. Which of the following is NOT a characteristic of autosomal recessive D. D is a characteristic of an autosomal dominant inheritance
inheritance? Other characteristics
● Pattern is determined by presence of 1 abnormal gene on
A. Recurrence risk of 25% for carrier proteins who have had a previous any autosome (chromosome 1-22)
affected child ● Vertical transmission: Appears in multiple generations;
B. Males are equally affected as females
Parent to child
C. Observation of multiple affected members of a kindred in the same
generation, but none in other generations ● Any child of an affected parent has a 50% risk of inheriting
D. An affected individual has a 50% chance of passing deleterious gene D the disorder in each pregnancy (recurrence risk)
in each pregnancy ● Unaffected individuals do not pass the disorder to their
children
● No sexual predilection (males and females are equally
affected)
● Disorders (My HONey is dominant)
- Marfan Syndrome, Familial Hypercholesterolemia,
Osteogenesis imperfecta, Neurofibromatosis Type 1
Other Characteristics:
● Mutations in both copies of a gene are required to
manifest the disease (Both parents are carriers)
● Horizontal transmission
● Increased probability of consanguinity (related parents);
First cousins (6-8%)
● Disorders (MarS, Patay Gutom CAH Lagi pag recess)
- Maple Syrup Urine Disease, Phenylketonuria,
Galactosemia, Congenital Adrenal Hyperplasia
105. Linking of aminoacids to form proteins occurs in the A. After transcription in the nucleus, the mRNA gets translated
into proteins in the ribosome. The sequence of codons is read
A. Ribosomes and tRNA brings amino acids complementary to the sequence.
B. Nucleus Peptide bonds are formed between the amino acids, and
C. Cell wall proteins are eventually formed.
E. Golgi apparatus
Not B. Transcription takes place in the nucleus. DNA is used as a
A template to make mRNA.
106. Ms. Reyes did not know that she married a distant cousin on her father’s D. Autosomal recessive disorders are more probable to occur
side. Of the following genetic disorders, which would be the most common with consanguinity (related parents), as in this case. Examples of
disease that her son would have if both of them carry the same defective autosomal recessive disorders are MSUD, PKU, Galactosemia,
gene? CAH, and lysosomal storage diseases.
D
A. Neurofibromatosis type 1 Not A. NF Type 1 is autosomal dominant.
B. Achondroplastic dwarfism Not B. Achondroplastic dwarfism is autosomal dominant.
C. Retinitis pigmentosa Not C. Retinitis pigmentosa is usually autosomal dominant.
D. Galactosemia
[3.05 Genetic Pediatrics]
107. Retinal detachment and subluxation of the lens are common among A. Aortic root aneurysm and ocular abnormalities (ectopia
patients with what condition? lentis, subluxation of lens, retinal detachment, cataracts) are
pathognomonic for Marfan Syndrome. Marfan Syndrome is
A. Marfan’s syndrome caused by a mutation in the fibrillin-1 gene of chromosome 15.
B. Turner’s syndrome
C. Crouzori’s syndrome Not B. Turner’s Syndrome (45XO) is a type of monosomy
D. Osteogenesis imperfecta wherein female patients usually present with short stature,
amenorrhea, webbed neck, lack of secondary sex
characteristics, congenital heart defects, lymphedema of hands
A
and feet, and widely spaced nipples.
Not C. Crouzon’s syndrome is a form of craniosynostosis, a
condition in which there is premature fusion of the fibrous joints
(sutures) between certain bones of the skull
Not D. Osteogenesis imperfecta (aka brittle bone disease) is an
autosomal dominant disease caused by a lack of Type 1
collagen. Patients present with blue sclerae, hearing loss, short
stature, and recurrent fractures.
[3.05 Genetic Pediatrics]
109. A prominent occiput, micrognathia, low set ears, short sternum, narrow A. Recall. Clinical manifestations of Edwards Syndrome (Trisomy
pelvis, prominent calcaneus, and flexion abnormalities of the fingers are 18) are rocker-bottom feet, flexed big toes with prominent heels,
features seen in Trisomy.. clenched hand with overlapping fingers, short for gestational
age (SGA), and characteristic facial features such as short
A. 18 palpebral fissures, short nose, low-set and small ears with
B. 21 dysplastic helices and micrognathia
C. 8
D. 13 Not B. Clinical features of Down Syndrome (Trisomy 21) are
facial and dysmorphic features such as upslanting of palpebral
fissures, flat nasal bridge, small ears with folded superior helices,
brushfield spots, flat facial profile, flattened occiput, and short
A neck with abundant skin folds in the nuchal area; simian crease;
and other associated signs and symptoms
110. Atrioventricular septal defects are the most common congenital heart C. AVSDs are most common in infants with Down Syndrome or
defects seen in patient with this Trisomy: Trisomy 21.
113. In pedigree line definitions, what do double lines in a relationship line C. Recall. Double line in pedigree chart indicates consanguinity
indicate?
Not A. Marriage/Mating Line: horizontal line connecting 2
A. Multiple relationships symbols at the center of each symbol
B. Extramarital mating
C. Consanguinity Not B. Extramarital mating: represented by broken line between
D. Divorce or separation C 2 symbols at the center of each symbol
114. This syndrome characterized by microcephaly, large tongue and umbilical C. Microcephaly, Macroglossia, and Umbilical Hernia are the
hernia is governed by what type of inheritance: triad for Beckwith- Wiedmann syndrome. This syndrome is
under Non-Mendelian inheritance particularly Uniparental
A. Triplet repeat expansion Disomy, where both copies of a chromosome pair come from the
B. Mitochondrial disorders same parent.
C. Uniparental disomy
D. Genomic imprinting Not A. Triplet repeat expansion disorders, also under Non
mendelian inheritance, are described as having unstable DNA
and genetic anticipation. Examples under this are: Fragile X
syndrome, Myotonic dystrophy, Huntington disease and
C spinocerebellar ataxias
115. The most common symptoms of galactosemia in children is: D. Recall. Jaundice is the most common symptom of
galactosemia. Physiologic jaundice is >24 hrs after birth while
A. Vomiting pathologic jaundice is within 24 hrs after birth.
B. Hepatomegaly
D
C. Hypoglycemia Not A,B or C. Also one of the clinical feature of galactosemia but
D. Jaundice not the most common