Paediatrics - Complete Answers

1. AUTISM SPECTRUM DISORDER (ASD)

Definition

1. Deficits in social communication
2. Restricted, repetitive behaviours and interests

Previous DSM-IV subtypes (now under DSM-5 umbrella):

Epidemiology

• Prevalence: 1 in 54 children in the United States (DSM-5 era)
• Male predominance (4:1 male to female ratio)
• Autistic disorder: ~8 cases per 10,000 children (classic narrow criteria)
• Average age of diagnosis: 3.1 years (autistic disorder), 7.2 years (Asperger disorder)

Clinical Features / DSM-5 Diagnostic Criteria

• Deficits in social-emotional reciprocity (abnormal social approach, failure of normal back-and-forth conversation)
• Deficits in nonverbal communicative behaviours (poor eye contact, abnormal body language)
• Deficits in developing and maintaining relationships appropriate to developmental level

• Stereotyped or repetitive motor movements, use of objects, or speech (e.g., hand-flapping, toe-walking, echolalia)
• Insistence on sameness, inflexible adherence to routines
• Highly restricted, fixated interests (idiosyncratic, intense)
• Hyper- or hyporeactivity to sensory input

• Symptoms present in the early developmental period (may not fully manifest until social demands exceed limited capacities)
• Symptoms cause clinically significant impairment in social, occupational, or other areas
• Not better explained by intellectual disability or global developmental delay
• About 1/3 of ASD children also have intellectual disability
• In ~25% of cases, some language develops and is subsequently lost

Presentation Timeline

• First year: Lack of social interest may be noted in severe cases
• 12-18 months: No language development raises alarm
• Second year: Typically when diagnosis is made in moderate/severe cases
• Middle childhood: Milder cases identified when academic/social demands increase

Treatment

• Applied Behaviour Analysis (ABA) - most evidence-based
• Speech and Language Therapy
• Occupational Therapy
• Pharmacotherapy: Risperidone (FDA-approved for irritability/self-injurious behaviour in ASD); used for stereotypies, aggression
• Special education and structured school programmes

2. FAILURE TO THRIVE (FTT)

Definition

Classification

Causes

• Parental deprivation / neglect (most common single cause)
• Lack of nurturing environment
• Errors in feeding technique / preparation
• Poverty, low parental education
• Maternal depression, psychosocial stressors

• GI: pyloric stenosis, GERD, malabsorption (coeliac, cystic fibrosis)
• Cardiac: congenital heart disease
• Renal: renal tubular acidosis, chronic renal failure
• Endocrine: hypothyroidism, diabetes
• Neurological: cerebral palsy, intellectual disability
• Infections: HIV, recurrent respiratory infections
• Chromosomal abnormalities (Down syndrome, Turner syndrome)

Clinical Features

• Weight below 3rd percentile (weight affected first, then height, then head circumference)
• Thin extremities, narrow face, prominent ribs, wasted buttocks
• Signs of neglect: unwashed skin, dirty clothing, diaper rash
• Behavioural: sleep and eating aberrations, withdrawal

Investigations (for all FTT cases)

• Complete Blood Count (CBC)
• Complete urinalysis
• Serum BUN and creatinine
• T4 and TSH (thyroid function)
• Serum lead level (if inner-city/old housing)
• Bone age (if short stature)

Management

• Hospitalization is indicated when:
  • Failure of outpatient management
  • Suspicion of abuse/neglect
  • Severe impairment of caregiver
• Unlimited feedings for at least 1 week in hospital
• High-calorie, nutrient-rich foods
• Social service involvement + home environment assessment
• Public health nurse/community health nurse home visits
• Follow-up: every week for the first 6 weeks after discharge
• Appetite stimulants NOT recommended unless significant underlying disease

Key Points

• FTT is associated with lower socioeconomic status, lower parental education, and psychosocial stressors
• Children with FTT are at increased risk of FTT recurrence
• Growth usually returns to normal when stress/deprivation is removed
• Nonorganic FTT is a form of child neglect - other forms of abuse must be screened for

3. BREASTFEEDING

Initiation

• Immediately after delivery: skin-to-skin contact
• Support mother in correct latch technique (wide-open mouth, everted lips, high position on areola - see figure below)
• Feed on demand: early hunger cues = mouthing, rooting, increased alertness
• Frequency: every 2-3 hours, or 8-12 times in 24 hours during initiation
• Alternate which breast is offered first at each feed
• Milk production established in first 2-4 days (colostrum phase)
• Milk "comes in" dramatically on day 3-5

Duration (WHO/AAP Recommendations)

• Exclusive breastfeeding for the first 6 months
• Continue breastfeeding with complementary foods for at least the first year of life and beyond (WHO recommends up to 2 years or beyond)

Supplementation

• Vitamin D: All breastfed infants require 200 IU oral vitamin D drops daily starting within the first 2 months (human milk contains insufficient Vitamin D; risk of rickets)
  • Continue until infant consumes ≥500 mL/day of vitamin D-fortified formula or milk
• Fluoride: NOT recommended in the first 6 months
  • From 6 months to 3 years: based on water fluoride concentration
• Iron: No supplement needed for term infants on human milk; iron-rich complementary foods should be introduced at ~6 months
• Water, juice, glucose water: NOT recommended in the first 6 months (no nutritional benefit)

Advantages of Breastfeeding

• Anti-infective proteins: IgA (secretory), lysozyme, lactoferrin, living leukocytes
• Protection against diarrhoea, respiratory infections, otitis media
• Reduces risk of obesity, allergies, sudden infant death syndrome
• Promotes bonding
• Cost-free, always available at right temperature
• Colostrum: rich in IgA, immune cells, growth factors

Common Problems

Baby Friendly Hospital Initiative (BFHI - 10 Steps, 2018 revised):

1. Comply with International Code of Breast-milk Substitutes
2. Written infant feeding policy communicated to staff and parents
3. Establish ongoing monitoring/data management
4. Staff trained with knowledge and skills to support breastfeeding
5. Discuss breastfeeding with pregnant women and families
6. Facilitate immediate skin-to-skin contact; support early initiation
7. Support maintenance of breastfeeding; manage difficulties
8. Do NOT give breastfed newborns any food/fluids other than breast milk unless medically indicated
9. Enable rooming-in 24 hours/day
10. Support mothers to recognise infant cues for feeding; counsell on risks of bottles/teats/pacifiers; coordinate discharge with ongoing support

4. DIFFERENCE BETWEEN BREAST MILK AND COW'S MILK COMPOSITION

"The differences may be seen as great as the difference between 'brain' and 'brawn'." - Park's Textbook

Compositional Comparison Table (Per Litre)

Key Qualitative Differences:

• Breast milk protein is ~3 times less than cow's milk but is almost completely digested and utilized
• Cow's milk protein is largely excreted undigested (producing white curdy stools)
• Breast milk contains more cystine (essential for premature infants) and taurine (which infants cannot synthesize)
• Breast milk contains NO beta-lactoglobulin (a common cow's milk allergen)
• Breast milk is a "living fluid" - contains IgA, lysozyme, leukocytes with anti-infective functions

• Breast milk is richer in linoleic acid (essential fatty acid for brain development)
• Breast milk fat is better absorbed due to lipase activity

• Breast milk has higher lactose (promotes Lactobacillus growth, acidic pH, inhibits pathogens)
• Breast milk contains nitrogenous oligosaccharides (prebiotic effect; absent in cow's milk)

• Cow's milk has 4x more minerals - places unnecessary strain on the infant's immature kidneys
• Breast milk has a better Ca:P ratio (2:1) vs cow's milk (1:1) - better calcium absorption
• High phosphorus in cow's milk interferes with calcium absorption and combines with fatty acids to form non-soluble calcium soaps
• Breast milk is richer in copper, selenium, and cobalt; lower in sodium
• Breast milk iron (0.4-1.5 mg/L) is better bioavailable (~50% absorption) vs cow's milk iron (~10% absorption)

5. CEREBRAL PALSY (CP)

Definition

• Onset before age 2 years
• Persistent abnormalities of movement and posture
• This is an upper motor neuron disease causing a mixture of muscle weakness and spasticity

Aetiology (cause often not identifiable, but may include)

• Prematurity (most common identifiable cause)
• Prenatal intrauterine factors
• Perinatal infections: TORCH (Toxoplasmosis, Others, Rubella, CMV, Herpes simplex)
• Anoxic injuries (birth asphyxia)
• Meningitis
• MRI commonly reveals periventricular leukomalacia

Classification

Physiologic Classification:

Anatomic Classification:

Functional Classification:

• Gross Motor Function Classification System (GMFCS) - based on walking ability and need for assistive devices

Orthopaedic Assessment

• Based on physical examination and birth/developmental history
• Presence of 2+ persistent primitive reflexes = child unlikely to walk
• Moro reflex (normally disappears by 6 months); Parachute reflex (normally by 12 months)
• Ability to sit independently by age 2 years is highly prognostic of ability to walk

Spasticity Management

6. COMPLEMENTARY FEEDING (Weaning)

Definition

Why at 6 months?

• Mother's milk alone is not sufficient to sustain growth beyond 6 months
• The infant's gut and immune system are ready to handle solid foods
• Iron stores from birth begin to deplete

WHO/National Guidelines

• Exclusive breastfeeding for the first 6 months
• Complementary feeding started at 6 months WITH continued breastfeeding up to 2 years or beyond
• India's IYCF goal: Enhance complementary feeding rate at 6 months from 33.5% to 75%

What to Introduce

• Iron-rich foods should be prioritized first (cereals, legumes, meat)
• Suitable first foods:
  • Cow's milk, fruit juice (from 6 months)
  • Soft cooked rice, suji (semolina)
  • Dhal (lentils)
  • Mashed vegetables
• By age 1 year: solid foods consisting of cereals, pulses, vegetables, and fruits
• Home-made weaning foods from family diet are appropriate and should be promoted

Principles of Good Complementary Feeding (IYCF Guidelines)

1. Timely - introduced at 6 months (not earlier, not too late)
2. Adequate - sufficient quantity to meet nutritional needs
3. Safe - prepared and stored hygienically
4. Appropriate - correct consistency, variety, and frequency
5. Responsive - fed with attention to infant's hunger cues

Feeding Frequency (WHO recommendations)

The Weaning Period as a Critical Phase

• Children are particularly exposed to the synergistic interaction of malnutrition and infection
• Improper weaning frequently leads to:
  • Diarrhoea
  • Months of growth failure
  • Kwashiorkor (protein deficiency)
  • Marasmus (energy-protein deficiency)
  • Immunodeficiency with recurrent/persistent infections

Prevention of Malnutrition at Weaning

• Education to pregnant and lactating women
• Develop low-cost weaning foods from locally available ingredients
• Nutrition education - correct feeding practices
• Family planning and spacing of births
• Early diagnosis and treatment of diarrhoea and infections (ORS + Zinc)
• Deworming of heavily infested children
• IFA supplementation

Important note for exams: While these answers are drawn from authoritative paediatric sources aligned with Ghai's content, for Ghai-specific tables, mnemonics, and page references, cross-check with Ghai's Essential Paediatrics (9th edition) directly - particularly chapters on Nutrition (Ch. 7), Neurology (Ch. 15), and Developmental Paediatrics (Ch. 2).All 6 topics have been covered comprehensively. Here's a quick summary of what's included:

1. Autism Spectrum Disorder - Definition, DSM-5 two-domain criteria (social communication deficits + restricted/repetitive behaviours), epidemiology (1 in 54), previous subtypes, clinical timeline, treatment (ABA, risperidone)
2. Failure to Thrive - Classification (90% nonorganic), causes, clinical features, investigations (CBC, urinalysis, TSH, BUN/creatinine), management (hospitalisation indications, unlimited feeds, weekly follow-up for 6 weeks)
3. Breastfeeding - Initiation, duration (exclusive for 6 months, continue to 2 years), Vitamin D supplementation (200 IU/day), BFHI 10 steps (2018), common problems and management
4. Breast Milk vs Cow's Milk - Full comparison table (proteins, fats, carbohydrates, minerals, vitamins, energy) with key qualitative differences (bioavailability, anti-infective properties, renal load, Ca:P ratio)
5. Cerebral Palsy - Definition (nonprogressive, before age 2), aetiology (prematurity most common), physiologic classification (spastic/athetoid/ataxic/mixed), anatomic classification (hemiplegia/diplegia/quadriplegia), GMFCS, spasticity treatment (botulinum toxin, dorsal rhizotomy, baclofen) with classification diagram
6. Complementary Feeding - Definition, rationale for 6 months, foods to introduce, IYCF principles (timely/adequate/safe/appropriate/responsive), feeding frequency by age, dangers of improper weaning (kwashiorkor, marasmus)