Clinical Methods in Paediatrics DEPARTMENT OF PAEDIATRICS CHINESE UNIVERSITY OF HONG KONG

Methods in Clinical medicine §History l prenatal, natal, postnatal l development l social l allergy and drugs l family hx, enviromental hx l F/E §Physical examination + Investigations

An example §Growth problem in paediatrics

Why do we need to understand growth problems in Paediatrics? §Parental concerns §Almost all chronic childhood disorders can affect growth §Most children with “growth problems” actually DO NOT have problems and NEED NO investigations.

Questions §What is normal growth? Pattern, charts - normal reference §Normal variations of growth

Questions §What is normal growth? Pattern, charts - normal reference §Normal variations of growth? §What influences normal growth?

Growth Disorders - Physiology Nutrition Diseases Hormones Normal Growth Genetics Puberty

Normal Growth §Biological variations §Arbitrary: 3% - 97% = “Normal”

Normal Growth §Trend of growth: Serial data : changes over time §Charts - for comparison of an individual to a reference population: assumption 97% = likely to be abnormal. i.e. disease * * Biological variations * Arbitrary : 3rd% to 97%= normal

Short stature §Definition l Children with heights below the 3%tile l §MAJORITY l >90% due to familial short stature or constitutional growth delay l others -Pathological short stature §Familial short stature §Constitutional growth delay with delayed puberty

Familial Short Stature §Family history - positive l a height within the target height defined by the parental size

Target Heights Ht (boy) = Ht (mom) + Ht (dad) Ht(girl) = Ht (mom) + Ht (dad) -12 2

Familial Short Stature §Family history - positive l a height within the target height defined by the parental size §Normal growth velocity §Normal age of onset of puberty §Bone age consistent with chronological age

Constitutional growth delay with delayed sexual maturation §Familial condition with hereditary delay in growth and maturation §Short stature during childhood §Delayed onset of puberty §Bone age - retarded for chronological age but appropriate for height age §Normal adult height

Differential Diagnoses Short Stature Normal Abnormal -familial R/O Disproportionate -constitutional short stature *F Hx, Growth rate - Rickets :Vit. D, PO4 - Skeletal dysplasia (check upper, lower segments ) Proportionate short stature > 90%< 10%

Proportionate Short Stature Prenatal onset Postnatal Onset -Syndromes::Down’s, Russell-silver -Chronic illness -Chromosome: Trisomies GI, CVS, Renal, Chest, Hema -IUGR Fetal: intrauterine infection -Endocrine: thyroid Maternal: toxemia G.H. Combined -severe malnutrition

Skeletal Dysplasia F developmental defects of skeletal growth leading to disproportionate short stature and deformity > 200 types e.g. Achondroplasia, most common 1/ 25000

CLINICAL APPROACH TO SHORT STATURE 1.Onset: Since when ? 2.? Growth arrest: e.g. no growth for the past 2 years 3.Prenatal history: Intrauterine growth retardation - drugs, smoke, alcohol, illness, rash, weight gain 4. Natal history - Birth weight, length 5.Postnatal history -Medical illness CNS - irradiation, Cardiac, Pulmonary, Renal, G.I. History

CLINICAL APPROACH TO SHORT STATURE 6.GROWTH DATA FROM THE PAST - Plot the growth curve - Calculate the growth rate (normal = 4-6 cm/year 4 years to prepuberty) 7.Family history -Short stature, growth delay, menarche 8. Systemic enquiry: e.g.Symptoms of Hypothyroidism 9.Social history: assess impact of short stature History

SHORT STATURE - PHYSICAL EXAMINATION 1.Dysmorphic features suggesting syndromes: Turner, Noonan, Russell-Silver 2. Midline defects - Cleft lip/palate: Hypopituitarism 3.Visual field defects 4. MEASUREMENT- HT, WT, Arm-span, upper & lower segments, sitting height, proportions AGE U/L RATIO BIRTH years 1.3 >7 years ? Goitre and signs of hypothyroidism 6.Careful systemic examination:Heart, Lungs, Abdomen examination to detect possible organic cause 5.Pubertal status -BREAST, PUBIC HAIR, GENITAL STAGE, TESTES

INVESTIGATIONS FOR SHORT STATURE 1.MAJORITY OF CASES- NONE - If Hx is compatible with normal variants i.e. Familial or constitutional - Growth rate - NORMAL 2.Recheck patient in 6 months to calculate the growth rate 3.INVESTIGATES IF - Very short: > 3 s.d. below mean(many cm below the 3rd%tile or history of growth arrest or history and physical abnormalities suggestive of endocrine disorders or other systemic disorders

TESTS - FOR SHORT STATURE §BONE AGE: X-ray left hand and wrist §BLOOD COUNT, URINALYSIS, RFT §STSH, FT4 §KARYOTYPE FOR GIRLS (TURNER) §If patient has - Delayed bone age - Normal screening investigations - No other medical cause - abnormal growth rate THEN consider growth hormone testing

As a GP, when to refer? §Height ‘way below’ 3rd % §Growth arrest §Obvious chronic problems-poorly controlled §Social reason: Unable to settle the extreme parental anxiety. DO NOT USE tests to reassure the parents

Summary §Variations and control of normal growth §Approach to short stature (proportionate or disproportionate types) l DDx of short stature l History taking & physical examination l Investigations and follow-up

Rickets §Clinical signs -stature, frontal bossing wrist, bow legs, ribs §Biochemical abnormalities: Bone profile: Ca, phosphate, ALP §Radiological signs of rickets

Summary §Normal Growth §Approach to short stature §History, physical, investigations §DDx, Rickets §Examples of proportionate or disproportionate short stature