Pedia Lecture 1-A Preventive Pediatrics Trans

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

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Part of health maintenance supervision

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Normal birth weight and birth length

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Performed to identify clinically undetected problems, disorders, or risk factors in childhood

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Prolonged physiologic jaundice

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Cost-versus-benefit assessment

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Feeding difficulties, sluggish

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Frequent constipation

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Umbilical hernia

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Large tongue  respiratory difficulties

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Hypothermic; cold & clammy skin

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Edema of the genitals & extremities

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Retarded physical & mental progress

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Delayed sexual maturation

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Low T4, T3; high TSH

NEWBORN SCREENING TEST •

1st introduced in the Philippines in 1996

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Republic Act 9288: An Act Promulgating a Comprehensive Policy and a National System for Ensuring Newborn Screening

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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

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Deficiency of 21-hydroxylase

5. Phenylketonuria

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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

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Low serum Na, Cl, cortisol; high K

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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)

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Classic form may manifest within weeks after birth

2. Classic, less severe, simple- virilizing

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Feeding intolerance, vomiting, hepatomegaly, jaundice, hypoglycemia, convulsions, lethargy, hypotonia, cataracts, failure to thrive, mental retardation

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Parents with galactosemia are at increased risk for E.coli neonatal sepsis

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Most common GALT mutation in Europe and North America is Q188R

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Autosomal recessive

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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

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Most common manifestation without treatment is developmental delay

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MR develop gradually

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Infant: severe vomiting, hypertonic, hyperactive DTRs, seizures; older: hyperactive with purposeless movements, rhythmic rocking & athetosis

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unpleasant musty odor

Disorder of the hexose monophosphate pathway

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2 clinical syndromes: episodic hemolytic anemia & chronic hemolytic anemia

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X-linked recessive disorder

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Episodic: symptoms develop 24-48 hrs after a patient has ingested a substance that has oxidant properties

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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

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Deficiency of this enzyme system causes MSUD

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Onset of acute hemolysis results in a precipitous fall in Hgb and Hct

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

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(+)Heinz bodies (precipitated hgb)

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Reticulocytosis

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

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Neonatal icterus

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Jaundice, anemia, hemolysis, acute renal failure

Hypoglycaemia may be present (correction does not improve condition)

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Death usually occurs in untreated patients in the 1st few weeks or months of life.

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Diagnosis of peculiar odor of maple syrup found in urine, sweat, and cerumen

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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)

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Excess phenylalanine is transaminated to phenylpyruvic acid or decarboxylated to phenylethylamine à disrupt normal metabolism & cause brain damage

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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.

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After 48 to 72 hours, the injection site is evaluated. CHECK FOR INDURATION AND NOT THE ERYTHEMA.

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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.

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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.

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The positive immunologic response to PPD antigen is seen here. The size of the papule is over 2 cm. in diameter.

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According to the Philippine Pediatric Society: < 8 mm induration is already positive.

NEWBORN SCREENING TEST •

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Blood is collected at 48 hours old (2 days after initiation of feeding to be able to check for galactosemia) If blood was collected 2 years with a family history of hyperlipidemia (>240 mg/dL) or early MI (50% correct •

Uncooperative: retest within 1 month

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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

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Acuity levels in developmentally appropriate children:

Risk factors in neonates: (do ABR test)

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2 1/2 yrs.old: 20/60

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3 yrs old: 20/40 -20/30

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4 yrs old: 20/30-20/25

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5-6 yrs old: 20/20

Philippine Society of Pediatric Ophthalmology and Strabismus recommends comprehensive examination for the ff: 1. Premature (