Rapid PCH: Growth & Development

Question 1

Failure to Thrive: Definintion?

Answer 1

Describes a child whose current weight or rate of weight gain is significantly below that of other children of a similar age.
One-off assessment: Below 2nd centile
Continual assessment: crossing 2 centile lines for weight

Question 2

Failure to Thrive: Aetiology, risk factors, associations and epidemiology?

Answer 2

Aetiology:
Functional - Nutritional neglect, emotional neglect, abuse, psychiatric
Organic - Feeding difficulty, Poor food retention(GORD/CMPI)/absorption(coeliac/IBD)/metabolism(thyroid/GH/GSD/galactosaemia), Inc. metabolism(CHD, CF), chronic disease, chromosomal abn.

RFs/Associations:
Poor SE circumstances
Parental psychiatric illness

Epidemiology:
5% 6w-1y have mild, 1% severe

Question 3

Failure to Thrive: H&E?

Answer 3

Hx:
General: antenatal Hx, perinatal comps, birth weight
Feeding Hx: Frequency of feeding/meals, details, frequency of bowel motions
Development: Milestones, school performance
Social Hx: Parenting skills, neglect/abuse

Ex:
General: Demeanour, activity level, interaction with parent/family
Measure: Ht/Wt/Hd
Malnutrition: Wasting, muscle loss (esp buttocks)
Development: Milestones, sexual development

Question 4

Failure to Thrive: Investigations?

Answer 4

FBC, TFTs, U&E, CRP, ESR, coeliac screen if indicated

Specific tests if indicated: sweat test, karyotype, renal USS

Question 5

Failure to Thrive: Management?

Answer 5

Nutritional: Balanced diet and parental education
Functional: Multidisciplinary approach - SW, GP, teachers, psychologist
Organic: Treatment of underlying disorder

Hospitalisation may be required for observation of feeding and behaviour

Question 6

Failure to Thrive: Prognosis and complications?

Answer 6

Prognosis: Longer the delay in diagnosis, less likely that normal growth & development will be achieved

Complications:
Developmental delay
Stunting of growth
Complications of underlying condition
Psychological implications

Question 7

Child abuse: Definition?

Answer 7

Maltreatment of children via neglect, emotional, physical or sexual abuse

Question 8

Child abuse: Aetiology/RFs/Asscns/Epidem

Answer 8

Aetiology:
Carer-inflicted - Family members/babysitter

RFs/As:
Drug abuse, lack of support, learning difficulties, unemployment, high number of siblings
10% of abusers have been abused, 90% have not.

Epidemiology:
Rising incidence - may be due to changing definitions, better detection and documentation

Question 9

Neglect: H&E?

Answer 9

Hx:
Developmental delay, failure to thrive, poor school attendance, poor health surveillance attendance

Ex:
Unkempt

Question 10

Emotional abuse: H&E?

Answer 10

Hx:
Rejection of child, verbal harrassment, withdrawal of love, threats, ridicule

Ex:
Withdrawn child, lack of eye contact, lack of interaction

Question 11

Physical abuse: H&E?

Answer 11

Hx:
NAI, Hx inconsistent with injury/delayed/elusive/vague, recurrent or characteristic injuries

Ex:
Unusual bruising: angle of jaw, fingertip marks on trunk/inner thigh/upper arms, outlines of objects eg. belt, slap marks over face/buttocks

Question 12

Sexual abuse: H&E?

Answer 12

Hx:
Involvement in sexual activities that they cannot give informed consent to - rape, exposure and pornography

Ex:
Bruising/tears/abrasions around genitalia, reflex anal dilatation, STI, early teenage pregnancy

Question 13

Child abuse: Ix?

Answer 13

Measurements: Ht/Wt/Hd
Photograph of injuries with/without parental consent
Bloods: Clotting for bleeding disorders
Xray all suspected fractures and consider skeletal survey (also excludes osteogenesis imperfecta)
Psychiatric referral if appropriate for child ± carer

Question 14

Child abuse: Mx?

Answer 14

Immediately:
Treat any injuries
Inform senior paediatrician + CP team
Inform social services ± police
Consider admission if child in need of immediate protection

Subsequently:
Multidisciplinary child protection conference (GP, teachers, paediatrician, SW/NSPCC)
Consider adding child to CP register
Consider legal enforcement/foster placement if appropriate

Question 15

Child abuse: Prognosis and Comps?

Answer 15

Prog:
Abused children often suffer from low self esteem, anxiety, substance abuse and have difficulties establishing relationships in later life.

Comps:
Withdrawal, poor school attendance/performance, sleep disorders, precocious/inappropriate sexual activity, phobias, failure to thrive.

Question 16

Cerebral palsy: Definition?

Answer 16

Non-progressive disorder of movement and posture

Question 17

Cerebral palsy: Aetiology/RFs/Asscns/Epid?

Answer 17

Aetiology:
80% Antenatal - Cerebral dysgenesis/malformation, congenital infection (rubella, toxoplasmosis, CMV)
10% Perinatal - HIE, birth trauma
10% Postnatal - Meningitis/encephalitis, EDH, IVH, head injury, NAI, hyperbilirubinaemia (kernicterus), prolonged hypoglycaemia

Associations:
Epilepsy, learning difficulties, visual impairment, squints, hearing loss, behavioural disorders

RFs:
Preterm delivery
Low birth weight

Epidemiology:
2/1000 live births, usually presents in infancy

Question 18

Cerebral palsy: H&E?

Answer 18

General: Delayed milestones, poor feeding, abnormalities of tone/posture/gait, difficulties with language, impaired social skills

Clinical Types:

Spastic (70%) - Affected limbs show ^ tone (clasp-knife), brisk reflexes and extensor plantar responses
Spastic hemiplegia - Unilateral, arms>legs, fisting and early hand preference (arms, hypertonicity of hip adductors -> ‘scissoring’ of legs
Spastic quadriplegia - All 4 limbs but arms>legs, poor head control, paucity of movement, abnormal primitive reflexes and fisting in first few months

Dyskinetic (10%) - Normal progress until 6-9m followed by progressive dystonia of lower limbs, trunk and mouth exaggerated by involuntary movement, choreoathetoid movements

Ataxic (10%) - Hypotonia, ataxia of trunk and limbs, postural imbalance, intention tremor

Mixed (10%)

Question 19

Cerebral palsy: Pathophysiology?

Answer 19

Spastic hemiplegia: Damage to Middle Cerebral Artery territory
Spastic Diplegia: Intraventricular haemorrhage, ventricular dilatation or periventricular lesion
Spastic quadriplegia: widespread, bilateral cerebral lesions

Dyskinetic: Extrapyramidal lesion (basal ganglia, thalamus)

Ataxic: Abnormal cerebellar development

Question 20

Cerebral palsy: Ix?

Answer 20

Hearing/visual assessment, EEG if seizures are a feature

Question 21

Cerebral palsy: Management?

Answer 21

MULTIDISCIPLINARY APPROACH:
Physio: Early to maintain ROM/function/development, prevent contractures
OT: Splints, crutches, walking frames, wheelchairs
SALT: Address language/phonation and control of drooling
Orthopaedics: Correction of deformities and improvement of function
Neurosurgery: Reduction of spasticity or disabling dystonic movements
Medical: Rx of spasticity (baclofen/botox)
Genetic counselling

Question 22

Cerebral palsy: Prognosis/Comps?

Answer 22

Prog:
Spastic hemiplegia - Delayed but eventually normal gait
Spastic diplegia - characteristic gait (knee flexion, toe-walking, hip adduction)
Spastic quadriplegia - Poor prognosis due to feeding disability and immobility. Often totally dependent with significantly reduced life expectancy. Death usually 2ry to LRTI from muscle weakness ± kyphoscoliosis

Dyskinetic - Poor QOL, usually unable to walk independently

Ataxic - Most walk with aid of crutches

Comps:
Aspiration pneumonia, failure to thrive

Question 23

Down’s Syndrome: Definition?

Answer 23

Clinical syndromic manifestation of trisomy 21

Question 24

Down’s Syndrome: Aetiology/RFs/Asscns/Epid?

Answer 24

Aetiology:
Maternal nondisjunction at meiosis (95%)
Robertsonian translocation (4%) - usually chromosome 21->14
Mosaicism (1%) due to nondisjunction during mitosis after fertilisation. Usually less severe.

Associations:
Congenital heart disease - ASD/VSD/AVSD, Fallot’s tetralogy, PDA
GI - Anal/oesophageal/duodenal atresia, Hirschprung’s
Chronic secretory otitis media
Recurrent RTIs, cataracts, squints, hypothyroidism

Epidemiology:
1/700 live births, most common genetic cause of learning difficulty
Risk increases with maternal age: 40 - 1/90
Risk of recurrence: 1/200 if >35; 2x age-specific rate if <35

Question 25

Down’s Syndrome: H&E?

Answer 25

Hx:
Usually diagnosed antenatally
Maybe previous child with DS

Ex:
General - Neonatal hypotonia, short stature
Developmental - Mild-mod learning difficulty, social skills exceed other intellectual functions
Craniofacial - Microcephaly, brachycephaly, round face, epicanthic folds, upward sloping palpebral fissures, protruding tongue, flat nasal bridge, small ears, excess nuchal skin, atlantoaxial instability
Eyes - Strabismus, nystagmus, Brushfield’s spots, cataracts
Limbs - 5th finger clinodactyly, single palmar crease, wide 1st-2nd toe gap, hyperflexible joints
Cardiovascular - Murmurs, arrhythmia, CHF
GI - Vomiting (atresias), constipation (Hirschprung’s)

Question 26

Down’s Syndrome: Investigation?

Answer 26

Antenatal screening:
‘Combined test’ - Serum test 10-14 weeks + USS 11-14 weeks. Serum markers - beta-hCG (high) + PAPP-A (low).
If presentation in 2nd trimester - ‘quadruple test’ -> Serum only: beta-hCG (high), AFP (low), inhibin-A (high), unconjugated oestriol (low). Less accurate than combined test.

Diagnosis:
Amniocentesis/CVS after discussion
Postnatal chromosomal analysis

Screening for complications:
Echo, TFTs, hearing and vision assessment, follow-up

Question 27

Down’s Syndrome: Management?

Answer 27

MULTIDISCIPLINARY APPROACH
Parental education and support, IQ testing
Educational input
Genetic counselling
Medical: ABx in recurrent RTIs, thyroxine
Surgical: Congenital heart defects, atresias

Question 28

Down’s Syndrome: Prognosis and complications?

Answer 28

Prog:
Antenatal - 75% spontaneous abortion rate
Childhood - 15-20% mortality by 5 years (usually CHD)
Adulthood - 50% survival at 50 years but premature ageing

Complications:
Infertility, 15x risk of leukaemia, most develop Alzheimers by age 40 (amyloid protein coded for on C21)

Question 29

Obesity in Childhood: Definition?

Answer 29

BMI > 98th centile for sex and age

Question 30

Obesity in childhood: Aetiology?

Answer 30

Usually multifactorial

Diet - Quantity, relative sugar/fat content
Psychosocial - Lifestyle, physical activity, food preferences, personal and familial structure/stability
Genetic - Leptin deficiency (obesity, hyperphagia, insuling resistance), Prader-Willi, Lawrence-Moon, muscular dystrophy, Turner syndromes
Cushing syndrome
Drugs - Antidepressants, antipsychotics, anticonvulsants, lithium, steroids

Question 31

Obesity in childhood: Associations/RFs/epid?

Answer 31

RFs:
Obese 1st deg relatives, maternal DM

Epid:
19% of 10-11yo obese
Underlying disease accounts for a small minority (5%) of cases

Question 32

Obesity in childhood: H&E?

Answer 32

Hx:
Dietary Hx, details of physical activity, psychosocial history.
Screen for complications/associated syndromes.

Ex:
Syndromic features, sexual development, height (tall+obese -> inactivity; short+obese -> organic cause)

Question 33

Obesity in childhood: Investigations?

Answer 33

Nutritional assessment: BMI, triceps skinfold thickness (not routine)
Bloods: cholesterol, triglycerides, endocrine assays if indicated
Urine: glucose
USS for PCOS/hepatic steatosis
CT/MRI head for specific syndromes

Question 34

Leptin deficiency: Pathophysiology?

Answer 34

Leptin conveys signal to hypothalamus from adipose tissue about magnitude of fat reserves. In leptin deficiency, the body inappropriately tries to increase fuel reserves when already adequate.

Question 35

Obesity in childhood: Management?

Answer 35

Early intervention with motivational emphasis aiming for gradual reduction of weight
Flexible diet and exercise plan + food diary
Cognitive and behavioural therapies
Medical: In children >12y with comorbidities and refractory to diet, exercise and behavioural therapy, a trial of orlistat may be considered.
Surgical: Only considered in exceptional and complicated cases.
Long-term follow-up and continuity required, ‘yo-yo’ dieting is unhealthy.

Question 36

Obesity in Childhood: Prognosis and complications?

Answer 36

Prog:
Likely to continue to be obese in adulthood without intervention

Complications:
Insulin resistance + T2DM
Respiratory: Sleep apnoea, obesity-hypoventilation syndrome (Pickwickian Syndrome)
Orthopaedic: SUFE, bowing of tibia
NAFLD
Metabolic syndrome
PCOS, precocious puberty
Vit D + Iron deficiency
Future: Atherosclerosis, CV disease, HTN, infertility

Question 37

Autism: Definition?

Answer 37

Developmental disorder producing a spectrum of clinical features predominantly affecting social interaction, imaginative thought and communication.