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PEDIATRIC SCREENING - Complete Step-by-Step Guide with Viva Questions

DEFINITION

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PART 1: THE WELL-CHILD VISIT FRAMEWORK

General Principles Before You Begin

1. Build rapport first - approach the child slowly; do NOT rush to touch immediately
2. History before examination - observe spontaneous activity during history-taking
3. Start with the least distressing parts - cardiac and respiratory examination first when the child is quiet; ear and throat examination LAST
4. Use the parent as an ally - for children 8 months to 3 years, examine on the mother's/parent's lap
5. Warm your hands before touching; introduce equipment as toys for young children
6. Every part of the child must be undressed and examined at some point

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PART 2: STEP-BY-STEP PEDIATRIC SCREENING EXAMINATION

STEP 1: Vital Signs and Anthropometry

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STEP 2: Growth Assessment and Plotting

1. Use WHO growth charts (0-5 years) and CDC growth charts (2-20 years)
2. Plot all 4 parameters: weight-for-age, height-for-age, weight-for-height/BMI-for-age, head circumference-for-age
3. Assess for:
   • Failure to thrive: weight-for-age <3rd percentile OR crossing 2 major centile lines downward
   • Short stature: height <3rd percentile
   • Microcephaly/Macrocephaly: head circumference below 0.4th or above 99.6th percentile (RED FLAG at any age)

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STEP 3: Developmental Screening

AAP-Recommended Schedule:

• Developmental surveillance - every well-child visit
• Formal standardized screening - at 9 months, 18 months, and 30 months (or 24 months if 30-month visit not feasible)
• Autism-specific screening (M-CHAT-R/F) - at 18 months AND 24 months

Denver Developmental Screening Test II (DDST-II) - 4 Domains:

• Normal - no delays, at most 1 caution
• Suspect - 2 or more cautions OR 1 delay
• Untestable - child refuses items

Key Developmental Milestones (from Harriet Lane Handbook):

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STEP 4: Developmental Red Flags (MANDATORY to Know)

• Loss of previously acquired skills (regression) - ALWAYS a red flag
• Parental concern about vision or hearing
• Persistently low muscle tone
• Asymmetry of movements (suggests cerebral palsy)
• Head circumference crossing 2 major percentile lines

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STEP 5: Neonatal/Newborn Screening

• Apgar Score at 1 and 5 minutes (Heart rate, Respiratory effort, Muscle tone, Reflex irritability, Color - 0-2 each, max 10)
• Cord blood (10-15 mL): saved for 7 days for blood typing, Coombs' test, other tests as needed

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STEP 6: Vision Screening

• 20/200 at 6 months
• 20/40 at 1 year
• 20/20 by 5-6 years

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STEP 7: Hearing Screening

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STEP 8: Autism Spectrum Disorder (ASD) Screening

• Age: 16-30 months
• Completed by: Parent (20 yes/no questions)
• Scoring:
  • 0-2: Low risk
  • 3-7: Medium risk - proceed to structured follow-up interview
  • 8-20: High risk - immediate referral to developmental specialist

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STEP 9: Cardiovascular Screening

• Sports pre-participation screening: AHA 12-element history and physical (personal history of exertional chest pain, syncope, unexplained fatigue, prior heart murmur, hypertension; family history of sudden cardiac death <50 years)
• Routine ECG is NOT required unless cardiac disease is suspected
• Blood pressure screening starts routinely at age 3 years

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STEP 10: Other Routine Screenings

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STEP 11: Systematic Head-to-Toe Physical Examination

1. General appearance - ill/well, nutritional status, dysmorphic features
2. Skin - color (jaundice, pallor, cyanosis), rashes, Mongolian spots, neurocutaneous markers (cafe-au-lait spots, ash-leaf spots, port-wine stain)
3. Head - fontanelles (anterior closes 12-18 months; posterior closes 2-3 months), craniosynostosis, skull shape
4. Eyes - red reflex, strabismus (Hirschberg test), visual acuity, discharge
5. Ears - low-set ears (renal anomalies, Down syndrome, FAS), otoscopy (tympanic membrane, light reflex)
6. Nose - nasal flaring, discharge, choanal atresia
7. Mouth/Throat - cleft palate, dental caries, tonsillar size, strawberry tongue - EXAMINE LAST
8. Neck - lymphadenopathy, webbing (Turner syndrome), thyroid
9. Chest/Lungs - chest shape (Harrison's sulcus), air entry, wheeze, crepitations
10. Cardiovascular - apex beat, murmurs (grade, timing, location, radiation)
11. Abdomen - umbilical hernia (common <2 years, usually self-resolving), hepatosplenomegaly, masses - use light palpation for spleen
12. Genitalia - Males: circumcision, hypospadias, undescended testes (examine BEFORE child is chilled; start above inguinal canal working downward), hydrocele; Females: imperforate hymen, discharge, clitoral size; Pubertal changes (Tanner staging)
13. Extremities - bowlegs (normal in infancy), knock-knees (normal after age 2), flat feet (normal first 2 years), extra digits, clubbing, joint swelling
14. Spine - scoliosis (Adam's forward bend test), spina bifida, pilonidal dimple, kyphosis
15. Hips - Barlow/Ortolani in neonates
16. Neurological - tone, power, reflexes, primitive reflexes (in infants), cranial nerves, cerebellar signs

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PART 3: DETAILED VIVA QUESTIONS FOR PRACTICAL EXAMINATION

Section A: General Principles

Surveillance is informal and ongoing at every visit - it includes clinical observation, eliciting parental concerns, and direct observation of the child. Screening is formal and uses a validated, standardized scored tool at specific ages to identify children at risk. Surveillance does not replace screening; both are needed. (Harriet Lane Handbook)

Formal standardized screening at 9 months, 18 months, and 30 months (or 24 months if 30-month visit is not feasible). ASD-specific screening is done at 18 and 24 months using M-CHAT-R/F.

Approach slowly, do NOT rush to touch; observe during history taking; perform cardiac/respiratory exam first while the child is quiet; examine throat and ears LAST as they cause the most distress; use the parent's lap for children 8 months to 3 years.

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Section B: Developmental Milestones

Approximately 12 months (1 year).

By 24 months. Absence of 2-word phrases by 24 months is a developmental RED FLAG requiring immediate evaluation. A child should also have a vocabulary of >50 words by 24 months.

Domains: (1) Personal-Social, (2) Fine Motor-Adaptive, (3) Language, (4) Gross Motor. Scores: Normal (no delays, maximum 1 caution), Suspect (2+ cautions OR 1 delay), Untestable (refuses items).

Object permanence (looking for an object after it falls out of sight) is a 9-month milestone. Failure to achieve it at 9 months combined with other delays is concerning. Isolated delay in one domain requires close surveillance with re-assessment.

Regression - loss of previously acquired skills - is ALWAYS a red flag and mandates immediate investigation regardless of age.

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Section C: Neonatal Screening

The Guthrie bacterial inhibition assay detects elevated blood phenylalanine. It screens for Phenylketonuria (PKU). Blood is collected by heel-prick at 6-10 days on thick absorbent filter paper. PKU is caused by PAH (phenylalanine hydroxylase) enzyme deficiency, is autosomal recessive, incidence 1:10,000-20,000, and causes mental retardation if untreated. Treatment is a low phenylalanine diet.

Congenital hypothyroidism. It is screened by measuring TSH or T4 by radioimmunoassay. If untreated, it causes irreversible severe mental retardation. Treatment must begin within the first 1-2 months of life.

By Barlow test (adduction - provokes dislocation) and Ortolani test (abduction - reduces dislocation). A click or clunk = positive. Screening is done at 6-14 days after birth, then monthly until 4 months. Early diagnosis allows treatment before standing age, avoiding complex surgical interventions later.

10-15 mL cord blood is saved in the refrigerator for blood typing, Coombs' test, and any other tests needed if the newborn develops jaundice or other problems.

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Section D: Vision and Hearing Screening

By 5-6 years of age. At 6 months it is 20/200; at 1 year 20/40.

Otoacoustic Emissions (OAE) as the first-line screen; if failed, Automated Auditory Brainstem Response (AABR). Done before hospital discharge. Target: detect hearing loss before 3 months and begin intervention before 6 months.

Use picture/Allen cards or a Snellen chart with pictures (E chart). Look for visual acuity <20/50, difference of 2+ lines between eyes (suggests amblyopia), or failure to cooperate suggesting a visual problem. Refer to ophthalmology.

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Section E: ASD Screening

Modified Checklist for Autism in Toddlers - Revised with Follow-up. Parent-completed 20-item questionnaire for ages 16-30 months. Score 0-2 = low risk; 3-7 = medium risk (proceed to structured follow-up interview); 8-20 = high risk (immediate referral). It is free and available in 50+ languages.

(1) Lack of joint attention (not pointing to show objects, not sharing interest), (2) diminished or absent eye contact, (3) no imitation of facial expressions or gestures, (4) lack of response to name, (5) echolalia, (6) repetitive motor behaviors (hand-flapping, spinning), (7) unusual sensory responses.

Formally at 18 months and 24 months using M-CHAT-R/F, per AAP guidelines.

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Section F: Growth and Nutrition

Failure to thrive (FTT) is weight-for-age persistently below the 3rd percentile OR crossing downward across 2 major percentile lines on the growth chart. Assess by plotting serial measurements on a growth chart, calculating weight-for-height z-score, taking dietary history, and investigating for organic causes (if weight falls, then height, then head circumference - suggests organic; if all fall proportionately - suggests constitutional or nutritional).

This is a red flag for progressive macrocephaly. Suspect hydrocephalus, megalencephaly, or subdural collection. Urgent head imaging (ultrasound if fontanelle is open; MRI/CT if closed) is indicated.

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Section G: Cardiovascular Screening

A 12-element history and physical examination. No routine ECG is required unless there is clinical suspicion of cardiac disease. Key history elements: exertional chest pain, syncope, unexplained fatigue, prior murmur, hypertension; family history of premature sudden cardiac death (<50 years), Marfan syndrome, cardiomyopathy.

At age 3 years at every well-child visit. Before age 3, measure blood pressure if there are specific risk factors (prematurity, renal disease, cardiac disease, recurrent UTIs).

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Section H: Examination Techniques

These are the most distressing parts of the examination. If done early, the child becomes upset and crying, making it impossible to properly auscultate the heart and lungs or assess tone. By leaving them last, you preserve the quality of the rest of the examination.

Examine BEFORE the child is fully undressed or has become cold (to prevent cremasteric reflex). Start palpation ABOVE the inguinal canal and work downward. Can also try with the child sitting holding knees on chest (increases intra-abdominal pressure which may push testes into scrotum). In obese children, push back the fat pad - the penis is often normal size. Examination in a warm bath may also help relax the cremasteric reflex.

Anterior fontanelle: Normally closes 12-18 months; bulging = raised ICP (meningitis, hydrocephalus); sunken = dehydration; delayed closure = hypothyroidism, rickets, hydrocephalus. Posterior fontanelle: Closes 2-3 months; early closure = craniosynostosis.

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Section I: Immunization (Screening Context)

Typically at birth (BCG, Hep B), 6 weeks/2 months (DPT, IPV/OPV, Hib, Hep B, PCV, Rotavirus), 10 weeks/4 months (DPT, IPV/OPV, Hib, PCV, Rotavirus), 14 weeks/6 months (DPT, IPV/OPV, Hib, PCV, Rotavirus, Hep B), 9 months (Measles/MMR), 12 months (second MMR in some schedules). Exact schedule varies by country/national program.

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Section J: Screening Tools Summary Table

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QUICK EXAM MNEMONIC AIDS

• Home environment
• Education/Employment
• Activities/Peers
• Drugs/Alcohol
• Sexuality
• Suicide/Mental health

• Appearance (color)
• Pulse (heart rate)
• Grimace (reflex irritability)
• Activity (muscle tone)
• Respiration

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