pedia lecture 1-a preventive pediatrics trans

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

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

• Part of health maintenance supervision

• Performed to identify clinically undetected

problems, disorders, or risk factors in childhood

• Cost-versus-benefit assessment

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

• July 28, 2003 during the 12th Congress


1. Congenital hypothyroidism

2. Congenital adrenal hyperplasia

3. Galactosemia

4. Glucose-6-phosphate deficiency

5. Phenylketonuria

6. Maple Syrup Urine disease

Congenital Hypothyroidism

• due to deficient production of thyroid hormone

or a defect in hormonal receptor activity

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

• Normal birth weight and birth length

• Prolonged physiologic jaundice

• 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

Congenital Adrenal Hyperplasia

• Disorder of adrenal steroidogenesis leading to a

deficiency of cortisol

• Deficiency of 21-hydroxylase

• Normal at birth but signs of sexual & somatic

precocity appear within the 1st 6 months of life

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

metabolized by way of the androgen biosynthetic

pathway resulting in excess androgen production that

virilizes the genitalia.


CAH Spectrum:

3 forms:

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

age)

2. Classic, less severe, simple- virilizing

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

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)

• Classic form may manifest within weeks after

birth

• 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


Glucose-6-phosphate dehydrogenase (G6PD)

deficiency

• 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

• Onset of acute hemolysis results in a

precipitous fall in Hgb and Hct

• (+)Heinz bodies (precipitated hgb)

• Reticulocytosis

• Neonatal icterus

• Jaundice, anemia, hemolysis, acute renal failure

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 à disrupt normal metabolism

& cause brain damage

• Affected infant is normal at birth

• 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

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

Affected infants develop poor feeding, vomiting, lethargy and coma.

PE reveals hypertonicity, muscular rigidity with severe opisthotonos, bouts of flaccidity, cerebral edema, convulsions.

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.



• 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:

1. Wrap a warmed, moist towel around the puncture

site for 3 to 5 minutes.

2. Positioning the infant with feet lowered below the

heart will help to increase blood flow.

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)

• 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.

• If antibodies are present, the body will have an

immune response.

• 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.

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


Routine BP screening recommended for all

children 3 years and older

• HYPERTENSION - systolic or diastolic blood

pressure greater than the 95th percentile based

on the age and height or weight percentile of

the patient

• Elevated BP needs to be confirmed on 3

separate occasions

• CHECK ALL EXTREMITIES!

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

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

• Avoiding low-iron formula during infancy

• Limiting cow’s milk to 23 oz/day in children 1-5

yrs old

DOH Administrative Order 3-A s.2003

• December 2, 2003

• Updated Guidelines on Micronutrient

Supplementation (vitamin A, iron)

• Therapeutic and preventive supplementation

Preventive supplementation:

1. Universal: 6-59 months old

2. Pregnant and lactating women, high-risk

children

3. Supplementation during emergencies

Iron Supplementation

Vitamin A supplementation


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

child’s 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

Domains: gross & fine motor skills, expressive &

receptive language, personal-social skills

Denver Development Screening Test II for 0-6

years old

VISION SCREENING

• Ask parents any concerns regarding vision, eye

alignment, or any other eye problems

• Birth to 3 yrs: inspect eyes & eyelids, assess

movement & alignment of eyes, examine pupils

& ROR

• Detect opacities and retinal abnormalities

Refer to ophthalmologist:

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 non-

tested 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

Childhood & adolescence: screen for

undetected strabismus or ocular misalignment

& decreased visual acuity

Ocular alignment consistently present by 4

months old

Methods:

Preschool age: Snellen illiterate E chart /

Tumbling E chart


School age: Snellen chart

Acuity levels in developmentally appropriate

children:

• 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)

2. Infants with metabolic disorders

3. Family history of retinoblastoma

• Vision Screening

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

• AAP recommends screening of all infants no

later than 1 month old

Risk factors in neonates: (do ABR test)

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

RA 9709

Universal Newborn Hearing Screening and Intervention

Act of 2009

• 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

How to screen:

1. Auditory brainstem response (ABR)


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

• Deworming must NOT be done in children

with:

Severe malnutrition

High-grade fever

Profuse diarrhea

Abdominal pain

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


Topic: PREVENTIVE HEALTH CARE IN PEDIATRICS: SCREENING TESTS

Lecturer: Ruby Ann L. Punongbayan, MD

Date: June, 20, 2013

pedia lecture 1-a preventive pediatrics trans

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