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Lec 1: Preventive Pediatrics by Ruby Ann L. Punongbayan, MD June 22, 2010 June 22, 2010 PREVENTIVE PEDIATRICS Refers to the efforts of physicians to avoid, rather than cure, disease and disability in children through health promotion and prevention activities Preventive health care is a continuum LEVELS OF PREVENTION PRIMARY PREVENTION Directed at avoiding disorders before they begin, often with a special emphasis on those who are at increased risk to develop a condition Chlorination and fluoridation of water, tetanus immunization, counseling the parents about keeping poisons and drugs out of reach SECONDARY PREVENTION A condition or its precursor is identified early and effective treatment instituted for remediation of the condition before progression or for elimination of the precursor Blood lead level screening, screening for adolescent scoliosis. TERTIARY PREVENTION Directed at ameliorating or halting disabilities from established diseases and promoting the child’s and parents’ adjustment to conditions that cannot be relieved Chest physiotherapy, psychotherapy SCREENING Part of health maintenance supervision Performed to identify clinically undetected problems, disorders, or risk factors in childhood Cost-versus-benefit assessment 1) 2) NEWBORN SCREENING TEST Permits the diagnosis to be made in time for effective treatment Congenital hypothyroidism, congenital adrenal hyperplasia, galactosemia, glucose-6-phosphate deficiency, phenylketonuria CONGENITAL HYPOTHYROIDISM due to deficient production of thyroid hormone or a defect in hormonal receptor activity Etiology of congenital type: o Thyroid dysgenesis o Thyrotropin-receptor blocking antibody o Defective synthesis of thyroxine o Defect of iodide transport normal birth weight and birth length Prolonged physiologic jaundice Feeding difficulties, sluggishness Frequent constipation Umbilical hernia Large tongue respiratory difficulties Hypothermic; cold & clammy skin CONGENITAL ADRENAL HYPERPLASIA Disorder of adrenal steroidogenesis leading to a deficiency of cortisol Deficiency of 21-hydroxylase accounts for 90% of affected patients Normal at birth but signs of sexual & somatic precocity appear within the 1 st 6 months of life CAH Females: pseudohermaphroditism: enlarged clitoris, labial fusion, internal genital organs are female Low serum Na, Cl, cortisol; high K Increased serum 17-OHP GALACTOSEMIA Basic Defect: deficiency of galactose-1- phosphate uridyltransferase Newborn normally receives up to 20% of caloric intake as lactose (glucose & galactose) Without the enzyme unable to metabolize galactose-1-phosphate accumulation injury to parenchymal cells of the kidney, liver & brain may begin in utero GLUCOSE-6-PHOSPHATE-DEHYDROGENASE DEFICIENCY Disorder of the hexose monophosphate pathway Page 1 of 3 Ag Ni na Ia n Jo hn “G Ra ch el M ar k Iv z Jo be Jo ce lle Ed o Gi en ah Jh o Ka th Ay nz Je Gl ad Ni ck ie Ric ob ea r Te ac he r Da da ng Ni ňa Arl en

1. Preventive Pediatrics

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Lec 1: Preventive Pediatrics by Ruby Ann L. Punongbayan, MDLec 1: Preventive Pediatrics by Ruby Ann L. Punongbayan, MDJune 22, 2010June 22, 2010

June 22, 2010June 22, 2010

PREVENTIVE PEDIATRICS • Refers to the efforts of physicians to avoid,

rather than cure, disease and disability in children through health promotion and prevention activities

• Preventive health care is a continuum

LEVELS OF PREVENTION

PRIMARY PREVENTION• Directed at avoiding disorders before they begin,

often with a special emphasis on those who are at increased risk to develop a condition

• Chlorination and fluoridation of water, tetanus immunization, counseling the parents about keeping poisons and drugs out of reach

• SECONDARY PREVENTION

• A condition or its precursor is identified early and effective treatment instituted for remediation of the condition before progression or for elimination of the precursor

• Blood lead level screening, screening for adolescent scoliosis.

• TERTIARY PREVENTION• Directed at ameliorating or halting disabilities

from established diseases and promoting the child’s and parents’ adjustment to conditions that cannot be relieved

• Chest physiotherapy, psychotherapy•• SCREENING• Part of health maintenance supervision• Performed to identify clinically undetected problems,

disorders, or risk factors in childhood• Cost-versus-benefit assessment

1)2) NEWBORN SCREENING TEST• Permits the diagnosis to be made in time for effective

treatment• Congenital hypothyroidism, congenital adrenal

hyperplasia, galactosemia, glucose-6-phosphate deficiency, phenylketonuria

•CONGENITAL HYPOTHYROIDISM• due to deficient production of thyroid hormone or a

defect in hormonal receptor activityEtiology of congenital type:

o Thyroid dysgenesiso Thyrotropin-receptor blocking antibodyo Defective synthesis of thyroxineo Defect of iodide transport

• normal birth weight and birth length• Prolonged physiologic jaundice• Feeding difficulties, sluggishness• Frequent constipation• Umbilical hernia• Large tongue respiratory difficulties• Hypothermic; cold & clammy skin

CONGENITAL ADRENAL HYPERPLASIA• Disorder of adrenal steroidogenesis leading to a

deficiency of cortisol• Deficiency of 21-hydroxylase accounts for 90% of

affected patients• Normal at birth but signs of sexual & somatic

precocity appear within the 1st 6 months of life• CAH• Females: pseudohermaphroditism: enlarged clitoris,

labial fusion, internal genital organs are female• Low serum Na, Cl, cortisol; high K• Increased serum 17-OHP

GALACTOSEMIA • Basic Defect: deficiency of galactose-1-phosphate

uridyltransferase• Newborn normally receives up to 20% of caloric

intake as lactose (glucose & galactose)• Without the enzyme unable to metabolize

galactose-1-phosphate accumulation injury to parenchymal cells of the kidney, liver & brain may begin in utero

GLUCOSE-6-PHOSPHATE-DEHYDROGENASE DEFICIENCY

• Disorder of the hexose monophosphate pathway• 2 clinical syndromes: episodic hemolytic anemia &

chronic nonspherocytic hemolytic anemia• X-linked recessive disorder• Episodic: symptoms develop 24-48 hrs after a patient

has ingested a substance that has oxidant properties• G6PD deficiency• 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• Sulfonamides, nalidixic acid, chloramphenicol,

nitrofurantoin, antimalarials (primaquine, chloroquine, quinacrine), vitamin K analogs, ASA, benzene, naphthalene, DKA, beans (favism)

• Neonatal icterus• Jaundice, anemia, hemolysis, acute renal failure

PHENYLKETONURIA• Deficiency of the enzyme phenylalanine hydroxylase

causes accumulation of pheynylalanine in body fluids• Excess phenylalanine is transaminated to

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

• Affected infant is normal at birth• MR develop gradually • Untreated infant loses 50 points in IQ by the end of

the 1st year of life• Infant: severe vomiting, hypertonic, hyperactive

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

• unpleasant musty odor

Page 1 of 2 Ag Nina Ian John “G” Rachel Mark Ivz Jobe Jocelle Edo Gienah Jho Kath Aynz Je Glad Nickie Ricobear Teacher Dadang Niňa Arlene Vivs Paul F. Rico F. Ren Mai Revs Mavis Jepay Yana Mayi Serge Hung Tope

Ag Nina Ian John “G” Rachel Mark Ivz Jobe Jocelle Edo Gienah Jho Kath Aynz Je Glad Nickie Ricobear Teacher Dadang Niňa Arlene Vivs Paul F. Rico F. Ren Mai Revs Mavis Jepay Yana Mayi Serge Hung Tope

Page 2: 1. Preventive Pediatrics

NEWBORN SCREENING TEST• Blood collected before <72 hours old• If infant is <24 hours old when specimen is collected,

it must be repeated before 14 days old.• The heel is the most frequently used site to collect a

sample of the blood.

a. Each circle must be filled completely.b. The blood should be filled from a large drop,

not layered on.c. Excessive squeezing may cause hemolysis.d. A heparinized capillary tube may be filled &

used to fill the circles as long as the filter paper is not dented or scratched.

• Increase Blood Flow• Wrap a warmed, moist towel around the heel

puncture site for 3 to 5 minutes.• Positioning the infant with feet lowered below the

heart will help to increase blood flow.

• Clean & Dry• Cleanse site with sterile alcohol pad.• Allow site to air dry.• Alcohol residue left on the skin may dilute the

specimen and affect test results.

• Puncture• Position a sterile disposable lancet (2.0 – 2.4 mm

tip) or an automatic lancet at a slight angle to perform a swift clean puncture.

• Wipe away the first drop of blood with dry sterile gauze.

SCREENING (Other Forms)

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

BLOOD PRESSURE SCREENING• Allows identification and potential treatment of

children with persistently elevated BP• Provides an opportunity to evaluate and potentially

modify additional CV risk factors• Routine BP screening recommended for all children 3

years and older; for <3 yrs who are felt to be at increased risk due to coexisting medical conditions.

CHOLESTEROL SCREENING• 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 or early MI (<50 in men and <60 in women) among 1st or 2nd degree relatives

• Fasting lipid panel: total cholesterol, triglyceride, HDL• Dietary intervention > 175 mg/dl fasting cholesterol

ANEMIA• To uncover correctable nutritional anemias & to

identify other anemias that are genetically determined or secondary to generalized disorders

• Screen 6-15 months, 4-6 yrs, adolescence• Hematocrit, hemoglobin, serum ferritin

URINALYSIS• 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

LEAD POISONING• Most frequently occurs between 18 months-5 yrs old• Screen every 6 months for 18-36 months old and

every year thereafter• Blood lead & erythroporphyrin levels

DEVELOPMENT• Growth and development• Domains: gross & fine motor skills, expressive &

receptive language, personal-social skills• Denver Development Screening Test II for 0-6 years

old

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

follow a brightly colored object• Evaluate ROR, pupillary light reflex, positions and

symmetry of the corneal light reflex• Ocular alignment consistently present by 4 months

old• Preschool age: Snellen illiterate E chart• School age: Snellen chart

HEARING SCREENING• Goal is to identify hearing loss regardless of degree• 8-12 months old: distraction hearing test• Risk factors in neonates: do ABR test: (+)family

history of childhood hearing impairment, congenital perinatal infection, BW<1,500 gms, hyperbilirubinemia, bacterial meningitis, severe asphyxia, anatomic malformation of head & neck

• Preschool: pure tone audiometry.

Page 2 of 2

Quiet Time:

“You see, at just the right time, when we were still powerless, Christ died for the ungodly. Very rarely will anyone die for a righteous man, though for a good man someone might possibly dare to die. But God

demonstrates his own love for us in this: While we were still sinners, Christ died for us.” Romans 5:6-8

Tuwing nababasa ko ang verse na ito mula sa Bible ay nareremind ako na kahit gaano ako magpakabait at magpaka “boy next door” ay hindi iyon ang dahilan kung bakit ako pinatawad ni Lord. This verse must remind us about our efforlessness in earning the forgiveness from Jesus. It is purely God’s love that motivated Him to forgive us (syempre that includes me again). So the next time you feel good about all your good deeds like perfect church attendance and a non-cheating lifestyle... Think about this verse and be humble enough to admit that Christ died for us while we are still filthy sinners. (Ehem... Sali ka nga pala sa SG namin).

-Paulfie