Clinical Methodsin Paediatrics

DEPARTMENT OF PAEDIATRICS

CHINESE UNIVERSITY OF HONG KONG

Methods in Clinical medicine

History prenatal, natal, postnatal development social allergy and drugs family hx, enviromental hx 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 < 3% or > 97% = likely to be abnormal. i.e. disease

* * Biological variations

* Arbitrary : 3rd% to 97%= normal

Short stature

Definition Children with heights below the 3%tile

MAJORITY >90% due to familial short stature or constitutional

growth delay others -Pathological short stature

Familial short statureConstitutional growth delay with delayed puberty

Familial Short Stature

Family history - positive a height within the target height defined by

the parental size

Target Heights

Ht (boy) = Ht (mom) + Ht (dad) +12

2

Ht(girl) = Ht (mom) + Ht (dad) -12

2

Familial Short Stature

Family history - positive 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

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 RATIOBIRTH 1.73 years 1.3>7 years 1.1

5. ? 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)

DDx of short stature History taking & physical examination Investigations and follow-up

Rickets

Clinical signs -stature, frontal bossing

wrist, bow legs , ribsBiochemical 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