Special Article Indian J Pediatr 1995; 62 : 681-686

The Art and Science of Pediatric.Diagnosis*

Meharban Singh

Department of Pediatrics. All India Institute of MedicaI Sciences, New Delhi

The methods of physicians are like those of a detective, one seeking to explain the dis- ease, other a crime. There are no short cuts to physical diagnosis. It is leamt only by practice, not a dull and dreaq, or monotonous practice but practice with all the five senses alert".

(Sir Robert Hutchison)

During the last decade, a revolution in imaging technology by introduction of ul- trasound, CT scanning, nuclear magnetic resonance and positron emission tomogra- phy etc..has eroded the confidence and en- thusiasm of clinicians. It is a sad reality that physicians are becoming more of tech- nocrats and losing the art of medicine. The patient is being fragmented into systems, organs, tissues, cells and even DNA! It is desirable and crucial that we should not lose sight of totality of the patient and its interaction with social and ecological mi- lieu. The recent technology, however, should be fully exploited and harnessed to improve the clinical judgement and en- hance the understanding of pathogenetic mechanisms underlying the disease pro- cess. the diagnosis is based on elicitation of correct evidence and its analysis and inter- pretation in the light of knowledge, core information and experience of the pediatri- cian.

The Attributes of a Pediatrician

The ideal pediatrician must have a genuine

Reprint requests: Dr. Meharban Singh, Professor and Head, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi-ll0 029.

interest and love for children. He must be humane, systematic in his approach, exude confidence, patience and politeness to elicit cooperation of patients and his attendants. He should approach children as children (not patients) with tact, gentleness, sympa- thy, compassion and genuine concern. He should be endowed with sharp and sensi- tive special senses (especially a keen sense of observation) and must possess the skills of a lawyer, detective and a judge. He must have scientific bent of mind, use logi- cal systematic steps to arrive at a diagnosis with the help of core knowledge and basic principles. He should not be dogmatic and should be aware of limitations of his own knowledge and of knowledge in general and should never hesitate to say that "I don ' t know". The welfare of the patient must be considered as supreme and should take precedence over all other con- siderations including his personal pride or commercial gain. The opportunity of nur- turing one's own children is a great learn- ing experience for a pediatrician. He should not be merely a healez but truly serve as a philosopher and guide to his pa-

*Based on Glaxo Oration, National Academy of Medical Sciences, 1995

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tients, parents and students. Above all though medicine is a profession, but iife should never be weighed in gold - it is too precious!

The Evidence

Just as evidence is crucial for a detective to identify the culprit , similarly sound evi- dence as collected by history, physical ex- amination and investigations is of funda- mental importance to solve the diagnostic puzzle.

History

Good history taking is an art and it needs inquisitiveness, persistence and tact. The history should be sifted off undue parental anxiety and concern in order to obtain a lu- cid chronological s tory with special em- phasis or', the onse t and evolution of the disease process. School-going children should be encouraged to provide first hand account of their illness, perceptions and prob!em~. Through a process of de- tailed symptom and system review, an at- tempt should be made to identify the or- gan/s affected by the disease process. It should be ~dentified whether a single sys- tem is affected or one is dealing with a multi system disorder. Attempt should be made to categorise whether a disorder is acute, sub-acute or chronic and classify into static, resolving or progressive in na- ture. The psychological, social, ethnic, geo- graphical, ecological and genetic factors in- fluencing the disease process should be identified. The experienced pediatrician is able to emphasise the important, mhnimise the unimportant facts and suppress irrel- evant information in history. It must be re- membered that over 60 per cent of diag-

noses can be correctly made by virtue of good history alone. It is important that n,~ observation of the mother whether appar- ently trivial or upimportant should be ig- nored or set aside if it fails to fit into tenta- tive diagnosis. Indeed it may be the most important clue to unravel the mystery and make the correct diagnosis.

Physical Examination

History tells of events which have led to the present condition of the patient while physical examination reveals the status of the patient at a given moment. Accuracy of history depends upon the education, memory, intelligence and concern of the attendant while yield of physical examina- tion depends upon the experience, skills and thoroughness of the pediatrician. It must be remembered that more errors are made by making a cursory incomplete ex- amination rather than lack of knowledge and skills. The approach during examina- tion should be both humane and system- atic. In order to elicit the cooperation of the children, it is desirable that they must be approached as children and not patients and examination should be conducted in an unstructured playful manner. The pe- diatrician must have inherent fondness and love for children and examine them with warm hands and warm heart. The ex- amination chamber should be warm, fa- miliar, well lighred and stocked with color- ful toys. The maximum time should be de- voted to observation of the child and to the system or organ which appears to be pre- dominantly affected on the basis of history. The pediatrician deals with children from birth to adolescence varying in size from less than 1 kg to over 40 kg and having dif- ferent grades of functional maturat ion of

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various organs. Therefore, the pediatrician must have examination tools of different sizes to cater to the needs and require- ments of children of different ages and sizes. The pediatrics has been equated to a "flying bird" which deals with dynamic, evolving and changing size and maturity of children. The knowledge regarding de- velopmental anatomy, developmental pharmacology, developmental biochemis- try and developmental biology in children is crucial for proper evaluation of normal children at different ages for identification of abnormalities or deviations due to dis- ease. The developmental or functional sta- tus of the child affects the incidence and expression of various diseases and con- versely diseases may adversely affect the growth and development of the children. For example, the lymphoid tissue is physi- ologically hypertrophied in children lead- ing to large tonsils or cervical lymphadenopathy following minor infec- tions.

Investigations

The investigations are useful to assess the degree of organ dysfunction, assist in con- firming the diagnosis help in the manage- ment, prognostication and follow up of the patient. The pediatrician should be aware of limitations of all laboratory tests and fol- low the philosophy that the laboratory should be used as a slave and not as a mis- tress. You mhst have faith in your clinical acumen and use the laboratory as an aid for confirmation of diagnosis. It is essential and desirable to treat the patient and not his laboratory reports. However, diagnosis should not be delayed by postponing es- sential investigations. Timely laparotomy may be life saving in a child with acute ab-

domen, undiagnosed lump and for differ- entiation between neonatal hepatitis and extra hepatic biliary atresia. The children with cervical lymphadenitis should not be given a trial of antitubercular therapy un- less the diagnosis is confirmed by fine needle aspiration cytology or lymphnode biopsy.

The Art of Diagnosis

"To study the phenomena of dis- ease without books is to sail an unchartered sea, while to study books without patients is like not going to the sea at all ...... ".

(Sir William Osier)

The diagnostic process is one of the greatest challenges in medicine. The evi- dences obtained on the bas is of demography, epidemiology, symptoms, signs, investigations, etc. pertaining to the patient are sifted and analysed through a process of logical thinking in the light of core knowledge, experience and clinical judgement of the pediatrician to arrive at plausible diagnostic possibilities. All the points in favour and against a particular diagnosis should be carefully considered to arrive at a final diagnosis. Thephysician should have thorough understanding of basic principles and be aware o f limita- tions of his own knowledge to avoid dog- matism. There is no place for expressions such as "NEVER" and "ALWAYS" in medicine. The greater the ignorance, greater is the dogmatism.

Principles to Ponder

'The following principles and guidelines should be kept in mind while evaluating a patient and making a clinical diagnosis :

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1. The functional disorder should be di- agnosed both by exclusion of an organic condition and by the presence of positive evidences of a psychogenic disorder. The attention must be paid to the whole child rather than merely his body organs. The behaviour and personality disorder in a child is a reflection of parental discord and the chid should be considered as a barom- eter of the family's emotional climate.

2. Always remember the oft-quoted maxim that common diseases occur more commonly. The rare manifestations of a common disorder are more common than the common manifestations of a rare disor- der. When a symptom or a sign is com- monly found in a large number of diseases, its absence is more significant than its pres- ence for making a specific diagnosis.

3. All attempts should be made to fit the total clinical picture into a single diagnos- tic entity. This is more often possible in a child as compared to an adult. It is useful to remember that no diagnosis should be taken for granted even when it is attrib- uted to a reliable physician or a renowned medical centre unless it is based on sound evidel/ce and logic.

4. One should avoid masking symptoms and signs by giving drugs to a patient with an evolving disease process. Do not instill mydriatics into the eyes for examination of fundus in a child with head injury or alter- ation of sensorium because this would compromise the diagnostic utility of pupil- lary size. In a patient with undiagnosed acute abdomen, strong analgesics and sedatives should be avoided.

5. Do not delay surgical diagnostic pro- cedure or a lapartomy whenever indicated.

6. The diagnosis of a curable disease should not be overlooked and all attempts should be made to have a confirmatory di-

agnosis before initiating therapy. 7. Do not allow the social position of the

patient or family to limit examination. The child should be completely undressed whenever necessary. Incomplete or cur- sory examination is the most important cause of diagnostic misadventures.

8. The diagnosis may be made in stages and do not hesitate to revise the diagnosis after a period of observation. The appear- ance of new symptoms and signs as the disease evolves, may offer additional diag- nostic clues. Sir Robert Hutchison, the leg- endary clinician, has enunciated several dont's for the diagnosticians (Table 1).

TABLE 1. Dont's for Diagnosticians

Don't be too clever

Don't diagnose rarities

Don't be in a hurry

Don't be faddy

Don't mistake a label for diagnosis Don't diag-nose two diseases simulataneously

Don't be too cocksure

Don't be biased Don't hesitate to revise your diagnosis

The Diagnostic Possibilities

In allopathic system of medicine, most dis- eases can be classified into eight broad etiologic groups (Table 2).

Infections account for over 75 per cent of all diseases. In children, deficiency dis- orders especially protein-calorie malnutri- tion constitute the core health problem which makes children susceptible to de- velop infective disorder which run a rela- tively fulminant course in malnourished children. Most genetic (Inborn errors' of

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T^sLE 2. The Spectrum of Diagnositc Possibilities

Etiology Spectrum of diseases

Infections

Exogenous toxins and injuries

Deficiency disorders

Developmental disorders

Neoplasms

Allergic, hypersensitivity, or autoimmune disorders

Degenerative disorders

Psychogenic and psychosomatic disorders

Viral, bacterial, fungal and parasitic

Drugs, chemicals, foreign body, trauma, bums, electric shock

Hypoxia, dehydration, protein-calorie malnutrition, deficiency of minerals, vitamins, micronutrients, hormones

Genetic, chromosomal disorders, congenital malformations

Benign or malignant

Allergic diathesis, atopy, post-infectious, collagen disorders, vasculitis etc.

Atherosderosis, CNS degenerative disorders?

Breath-holding spells, enuresis, recurrent abdominal pain, conversion reaction, drug addictions, behaviour disorders etc.

metabolism ) , chromosomal and develop- mental abnormalities manifest themselves during childhood. The overt degenerative disorders are uncommon in children but there is a need to identify various clinical and laboratory markers of these disorders so that preventive strategies can be ir~sti- tuted during childhood to reduce the bur- den of these disease during adult life.

The Rational Management

The purpose of making an accurate diag- nosis is to institute rational therapy and provide prognostic guidelines to the fam- ily. It is desirable to use familiar drugs which have withstood the test of time. The newer drugs or procedures are not neces- sarily better than the time tested remedies. All attempts should be made to provide to-

tal holistic care to the child rather than mere cure against a disease process. Give a complete and comprehensive advice re- garding diet, personal hygiene and immu- nizations to all children irrespective of the underlying disease process. Apart from providing rational drug therapy the physi- cian must establish a rapport with the child and his parents to provide emotional support, and win their confidence. The pe- diatrician who is likely to exhibit evidences of worry, hurry and indecision is unlikely to inspire confidence in his patients. The skillful physician knows when to sedate with drugs, when to sedate with words, when to treat aggressively for cure, pallia- tively for relief and consolingly for com- fort. What we do not say and what we say, how we say and when we say, make all the difference between helping and not help-

686 THE INDIAN JOURNAL OF PEDIA'fRICS 1995; Vol. 62. No. 6

ing our pafie:'._~. T h e ~ atwibutes and s'kills cannot be learnt f rom books bu t b y emulat - ing the e x a m v ! e of one ' s m o d e l t eachers w h o are of cc '_ 'r~ a dwkndling tribe in the modem, com:::.ercialL--ed s-:,ciety.

The va:ie:'.:s ,and a t t endan t s h a v e emo- t ional feelin~:s and one sEould avo id say- hag "no£ning can be d o n e ' (because some- thing can a lwavs be done,, whe reas " there is noth.Ln¢,_ ~ . . . . . . . . ~"", (even when it is a func- t ional d isorder) , " d o n : wor ry" , "it is a l r i g h t , etc wor ld be more a p p r o p r i a t e .

Ident ify fi,.e major worr ies and fears of the child a.:d has varents. All a t t emp t s shou ld be made :e .-eEeve £-:eir anxie ty , r eas su re t h e m a.-.,5 restore their con f idence so tha t the w i t :o -::b.t is n e v e r du l l ed or ext in- guished. We mus t m a k e s incere efforts to become a km.,w!edgeable and skillful phy - sician re : ' rcvide rekef and comfor t to our p a t i e n t . Bu: above all, w e m u s t s t r ive to evolve as b.ea!ers an.! g o o d h u m a n be ings to prop--ga:e and p r o m o t e the d w i n d l i n g art of rr.edic_",e.

A H E A T - R E S I S T A N T POLIOM'YELITIS V A C C I N E

The vaccine cta"rently used to protect children from poliorr.yeli~s soon loses its potency when ex- posed to excessive heat, as may readily occur in many tropical countries. The Expanded Programme on Immunization overcame this diffi,:ult)" by k~pi-g the vacc.ine at the required tem- perature from the moment it is manufactured u.-, to the pzint ";,here it is administered, using on uninterrupted "coldchain" of different types of :efrigeratc,.-s az:,d finally" "he icebox that the com- munity health worker carries on his or her bicycle. Having ~- heat-resists'It product would consid- erably simplify the delivery of the poliovaccine..rod the sz',;.ng :.n cost a.c.d improvement in logis- tics would brin,~ poliorn.yelitis eradication even :loser.

Attempts a:e on to develoo vaccines capable :o withsta:~zmg exposure to a temperature of 45"C for at le:~_~ v se,en day's witkout losing their potency, and eas'.:~ng their industrial manufacture. One line of research has a!ready idenufied se~ erat antiv:.-2~ c.:.-.,:'.ounds which can stabilize the antigenic struz-rare of .~alio~zrus for seven days a: J2"C, or ."c.,: .:L:ee days "-t 45"C, Another stabiliz- ing system was able to maintain the virus infect>ity for se',en days at 37.C - still short of the tar- get.

A Second app-~)~h in,,ol','ir:g drying of the polic',irus in fie. pre~nce of .~ novel carbohydrate, tre- halose, Froduz:es a vaccine v, hich is completely s:able who: ±'5~. However, research to overcome the large drop !n virus infecYvity and vaccine po:ency is be{Leg a-tively pursued.

Abstracted from : World Health 1993, No. 2, p. 21.