Topic: PREVENTIVE HEALTH CARE IN PEDIATRICS: SCREENING TESTS

Lecturer: Ruby Ann L. Punongbayan, MD

Date: June, 20, 2013
PREVENTIVE PEDIATRICS

What do you understand by preventive

pediatrics?
What are the different levels of prevention?
Give examples for each level of prevention.
SCREENING TESTS

Etiology of congenital type:

Thyroid dysgenesis (if +, need to have thyroid
hormone supplementation for life)
Thyrotropin-receptor blocking antibody
Defective synthesis of thyroxine
Defect of iodide transport

Part of health maintenance supervision

Normal birth weight and birth length

Performed to identify clinically undetected

problems, disorders, or risk factors in childhood

Prolonged physiologic jaundice

Cost-versus-benefit assessment

Feeding difficulties, sluggish

Frequent constipation

Umbilical hernia

Large tongue respiratory difficulties

Hypothermic; cold & clammy skin

Edema of the genitals & extremities

Retarded physical & mental progress

Delayed sexual maturation

Low T4, T3; high TSH

NEWBORN SCREENING TEST

1st introduced in the Philippines in 1996

Republic Act 9288: An Act Promulgating a

Comprehensive Policy and a National System
for Ensuring Newborn Screening

th

July 28, 2003 during the 12 Congress

NEWBORN SCREENING TEST

1. Congenital hypothyroidism
2. Congenital adrenal hyperplasia

Congenital Adrenal Hyperplasia

Disorder of adrenal steroidogenesis leading to a

deficiency of cortisol

4. Glucose-6-phosphate deficiency

Deficiency of 21-hydroxylase

5. Phenylketonuria

Normal at birth but signs of sexual & somatic

precocity appear within the 1st 6 months of life

3. Galactosemia

6. Maple Syrup Urine disease

Congenital Hypothyroidism

due to deficient production of thyroid hormone

or a defect in hormonal receptor activity

** Precursor steroids - 17-OHP - can only be

metabolized by way of the androgen biosynthetic
pathway resulting in excess androgen production that
virilizes the genitalia.

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Females:

pseudohermaphroditism: enlarged clitoris,

labial fusion, internal genital organs are female

Low serum Na, Cl, cortisol; high K

Increased serum 17-OHP

Galactosemia

Increased concentration of galactose in the

blood

3 distinct enzyme deficiencies:

1. Galactose-1-phosphate uridyltransferase
deficiency (GALT) - classic form
2. Galactokinase deficiency (GALK)
3. Galactose-4-epimerase deficiency (GALE)

Without the enzyme, unable to convert

galactose to galactose-1-phosphate and uridine
diphosphate galactose --> accumulation &
injury to parenchymal cells of the kidney, liver &
brain (may begin in utero)

1. Classic, severe salt-wasting (peaks at 3 weeks of

age)

Classic form may manifest within weeks after

birth

2. Classic, less severe, simple- virilizing

Feeding intolerance, vomiting, hepatomegaly,

jaundice, hypoglycemia, convulsions, lethargy,
hypotonia, cataracts, failure to thrive, mental
retardation

Parents with galactosemia are at increased risk

for E.coli neonatal sepsis

Most common GALT mutation in Europe and

North America is Q188R

Autosomal recessive

Death from sepsis or bleeding

CAH Spectrum:
3 forms:

3. Mild, non-classic
*SV form do not manifest adrenal insufficiency
symptoms unless subjected to severe stress but show
virilization; males and some females are not diagnosed
until much later when symptoms of virilization,
precocious pseudopuberty or growth acceleration occur.
Mild form may be missed by NST; manifests as
premature sexual hair, acne, and mild growth
acceleration in childhood; hirsutism, excessive acne,
menstrual disorder, and infertility in later life

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Glucose-6-phosphate dehydrogenase (G6PD)

deficiency

Most common manifestation without treatment

is developmental delay

MR develop gradually

Infant: severe vomiting, hypertonic,

hyperactive DTRs, seizures; older: hyperactive
with purposeless movements, rhythmic rocking
& athetosis

unpleasant musty odor

Disorder of the hexose monophosphate

pathway

2 clinical syndromes: episodic hemolytic anemia

& chronic hemolytic anemia

X-linked recessive disorder

Episodic: symptoms develop 24-48 hrs after a

patient has ingested a substance that has
oxidant properties

Sulfonamides, nalidixic acid, chloramphenicol,

nitrofurantoin, antimalarials, vitamin K analogs,
ASA, benzene, naphthalene
Degree of hemolysis depends on the inciting
agent, amount ingested & severity of the
enzyme deficiency

Maple Syrup urine disease

Decarboxylation of leucine, isoleucine, and

valine is accomplished by a complex enzyme
system (branched-chain a-ketoacid
dehydrogenase) using thiamine pyrophosphate
(vitamin B1) as a coenzyme

Deficiency of this enzyme system causes MSUD

Onset of acute hemolysis results in a

precipitous fall in Hgb and Hct

Affected infants develop poor feeding,

vomiting, lethargy and coma.

(+)Heinz bodies (precipitated hgb)

Reticulocytosis

PE reveals hypertonicity, muscular rigidity with

severe opisthotonos, bouts of flaccidity,
cerebral edema, convulsions.

Neonatal icterus

Jaundice, anemia, hemolysis, acute renal failure

Hypoglycaemia may be present (correction does

not improve condition)

Death usually occurs in untreated patients in

the 1st few weeks or months of life.

Diagnosis of peculiar odor of maple syrup found

in urine, sweat, and cerumen

Confirmed by amino acid analysis showing

marked elevations in plasma levels of leucine,
isoleucine, valine, and alloisoleucine (a
stereoisomer of isoleucine not normally found
in blood) and depression of alanine.

Phenylketonuria

Deficiency of the enzyme phenylalanine

hydroxylase causes accumulation of
pheynylalanine in body fluids
(hyperphenylalaninemia)

Excess phenylalanine is transaminated to

phenylpyruvic acid or decarboxylated to
phenylethylamine disrupt normal metabolism
& cause brain damage

Affected infant is normal at birth

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The PPD is an antigen which is injected under

the skin in the forearm using gauge 25 or 27
needle. Intradermal, bevel up.

After 48 to 72 hours, the injection site is

evaluated. CHECK FOR INDURATION AND NOT
THE ERYTHEMA.

The TST is performed to evaluate whether a

person has been exposed to TB.

1. Wrap a warmed, moist towel around the puncture

site for 3 to 5 minutes.

If antibodies are present, the body will have an

immune response.

2. Positioning the infant with feet lowered below the

heart will help to increase blood flow.

The positive immunologic response to PPD

antigen is seen here. The size of the papule is
over 2 cm. in diameter.

According to the Philippine Pediatric Society: <

8 mm induration is already positive.

NEWBORN SCREENING TEST

Blood is collected at 48 hours old (2 days after

initiation of feeding to be able to check for
galactosemia)
If blood was collected <24 hours old, it must be
repeated before 14 days old.

Steps:

3. Cleanse site with sterile alcohol pad.

Allow site to air dry.

4. Puncture

Position a sterile disposable lancet (2.0 2.4

mm tip) at a slight angle to perform a swift
clean puncture.

Wipe away the first drop of blood with dry

sterile gauze.

5. Fill Circle

Allow a second large drop of blood to form.

Lightly touch blood drop to filter paper.

Allow blood to soak through and completely fill

circle.

6. Fill the remaining circles with successive blood drops.

SCREENING FOR TUBERCULOSIS
PPD (purified protein derivative): standard dose
is 5 TU in 0.1 ml solution
In the Philippines, screening starts at infancy
and at school entry (as early as 3 months old)

SCREENING FOR HYPERTENSION

Allows identification and potential treatment of
children with persistently elevated BP
FROM DRA PADILLA: MAY START CHECKING BP
AT 2 YEARS OF AGE.
Provides an opportunity to evaluate and
potentially modify additional CV risk factors

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 Routine BP screening recommended for all

children 3 years and older

Avoiding low-iron formula during infancy

Limiting cows milk to 23 oz/day in children 1-5

yrs old

HYPERTENSION - systolic or diastolic blood

pressure greater than the 95th percentile based
on the age and height or weight percentile of
the patient

DOH Administrative Order 3-A s.2003

December 2, 2003

Elevated BP needs to be confirmed on 3

separate occasions

Updated Guidelines on Micronutrient

Supplementation (vitamin A, iron)

CHECK ALL EXTREMITIES!

Therapeutic and preventive supplementation

SCREENING FOR HYPERCHOLESTEROLEMIA

Allows identification and possible treatment of
children at risk for subsequent atherosclerotic
disease
Regular cholesterol testing for children > 2
years with a family history of hyperlipidemia
(>240 mg/dL) or early MI (<50 in men and <60
in women) among 1st or 2nd degree relatives
Fasting lipid panel: total cholesterol,
triglyceride, HDL

Preventive supplementation:
1. Universal: 6-59 months old
2. Pregnant and lactating women, high-risk
children
3. Supplementation during emergencies

Iron Supplementation

If normal, re-screen in 5 years.

Dietary intervention > 175 mg/dl fasting
cholesterol
SCREENING FOR ANEMIA
To uncover correctable nutritional anemia & to
identify other forms that are genetically
determined or secondary to systemic disorders
Screen 6-15 months, 4-6 yrs, adolescence
Hematocrit, hemoglobin, serum ferritin
Primary Prevention of Iron Deficiency

Feeding infants iron-containing cereals by age 6

months

Vitamin A supplementation

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Birth to 3 yrs: inspect eyes & eyelids, assess

movement & alignment of eyes, examine pupils
& ROR

Detect opacities and retinal abnormalities

Refer to ophthalmologist:
SCREENING THE URINE
In the absence of clinical concerns or risk
factors, routine urinalysis and cultures are NOT
cost-effective.
Urine studies should be obtained when disease
is suspected or when the child is at increased
risk for specific renal problems.
SCREENING FOR DEVELOPMENT
Developmental surveillance is a flexible,
continuous, and cumulative process
1. Elicit & attend to parents concerns about their
childs development
2. Maintain a developmental history
3. Making accurate & informed observations of the
child
4. Identify the presence of risk and protective
factors
5. Document the process and findings

1. droopy eyelid
2. non-reactive pupil
3. red eye or dry conjunctiva
4. opacities
5. absent/dull or asymmetric ROR

6 wks old: able to stare at faces and can fixate

and follow a brightly colored object
3 y.o.& older: test the visual acuity
Each eye is tested separately with the nontested eye covered
Credit is given for any line on which the child
gets >50% correct

Uncooperative: retest within 1 month

Any 2-line score discrepancy between the 2

eyes: refer to an ophthalmologist

Domains: gross & fine motor skills, expressive &

receptive language, personal-social skills

Childhood & adolescence: screen for

undetected strabismus or ocular misalignment
& decreased visual acuity

Denver Development Screening Test II for 0-6

years old

Ocular alignment consistently present by 4

months old

VISION SCREENING

Ask parents any concerns regarding vision, eye

alignment, or any other eye problems

Methods:
Preschool age: Snellen illiterate E chart /
Tumbling E chart

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 School age: Snellen chart

Acuity levels in developmentally appropriate

children:

Risk factors in neonates: (do ABR test)

2 1/2 yrs.old: 20/60

3 yrs old: 20/40 -20/30

4 yrs old: 20/30-20/25

5-6 yrs old: 20/20

Philippine Society of Pediatric Ophthalmology and

Strabismus recommends comprehensive
examination for the ff:
1. Premature (<32 wks) and/or LBW (<1,500
grams)

AAP recommends screening of all infants no

later than 1 month old

1. (+) family history of childhood hearing

impairment
2. congenital perinatal infection
3. BW <1,500 gms
4. hyperbilirubinemia
5. bacterial meningitis
6. severe asphyxia
7. anatomic malformation of head & neck

2. Infants with metabolic disorders

RA 9709

3. Family history of retinoblastoma

Universal Newborn Hearing Screening and Intervention

Act of 2009

Vision Screening

To institutionalize measures for the prevention

and early diagnosis of congenital hearing loss
among newborns

Provision of referral, follow up, recall, and early

intervention services to infants with hearing
loss

Counseling and other support services for

families of newborns with hearing loss

All infants born in the hospital shall be made to

undergo NHS before discharge unless parents
object to the procedure

Infants not screened prior to discharge due to

unavailability of instruments may seek hearing
screening within the 1st 3 months after birth in
the nearest facility

4. Family history of congenital cataract

5. History of maternal infection (rubella) or
genitourinary infections (STD, UTI)
6. History of squinting

Vision Screening

7. History of visual difficulties

8. Vitamin A deficiency or history of night blindness
9. Children with other impairments (CP, Down
syndrome, MR, hearing impairment, etc.)
HEARING SCREENING

PPS statement on Neonatal Hearing Screening

recommends hearing screening for all newborns
whether high risk or non-high risk

How to screen:
1. Auditory brainstem response (ABR)

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 Place soft ear phones through which a series of

soft clicks are introduced
Response detected through electrodes attached
to the forehead & neck
2. Otoacoustic emissions (OAEs)
A tiny microphone that detects sounds
generated by the outer hair cells of the cochlea
is introduced into the ear canal
Presence of those sounds indicates a
functioning outer, middle & inner ear

DEWORMING GUIDELINES

DOH Administrative Order no. 176 s.2004

recommends deworming for all children aged
12 months to 14 years old

Use either:

1. ALBENDAZOLE 12 mos-24 mos: 200 mg single

dose every 6 months; 24 mos & above: 400 mg
single dose every 6 months
2. MEBENDAZOLE 12 mos & above: 500 mg single
dose every 6 months

SIDE NOTES:
1.) Evaluation tool to check for Head
circumference? Z-Score
2.) Why only up until 2 years old to check for the
HC? Because the brain is fully developed.
3.) When to start deworming? 24 months
4.) Initial dental referral? 2 years old
5.) What to advise for G6PD patients? Avoid
exposure to Naphthalene balls, TMP-SMX,
flava beets and beans because these may
cause hemolysis.
6.) Urine collection of choice? Suprapubic
aspiration (although problem is consent)
7.) Sequelae of Bacterial meningitis? Hearing loss
8.) Differential diagnosis for patients with bilateral
hearing loss? Congenital Rubella

Devote yourself to loving others, devote yourself

to your community around you, and devote yourself
to creating something that gives you purpose and
meaning.
-

Morrie Schwartz

Deworming must NOT be done in children

with:

Severe malnutrition
High-grade fever
Profuse diarrhea
Abdominal pain

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Topic: PREVENTIVE HEALTH CARE IN PEDIATRICS: SCREENING TESTS

Lecturer: Ruby Ann L. Punongbayan, MD
Date: June, 20, 2013

PEDIA2 TRANSCOMM SBCM3A - 2015 by (Web, Tammy, Zy, Vince, Kaye, Elton, Rem, Bags, Belly)

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