THE ART OF PEDIATRIC DIAGNOSIS

THE ART OF PEDIATRIC DIAGNOSIS

“No other gift is greater than the gift of life! The patient may doubt his relatives, his sons and even his parents. But he has full faith in his physician. He gives himself up in the doctor’s hands and has no misgivings about him. Therefore, it is the physician’s duty to look after him as his own…”

The Attributes of a Pediatrician

“The medical student must exhibit a calm and generous disposition, besides being virtuous and of a noble mind. He must be tolerant of others and exhibit patience and preservence in his academic pursuits. Although of sharp intellect, he must be both rational and modest. He should possess a pleasant appearance and good looks, with a well-proportioned body which should be free from physical defects or any obvious diseases. Above all, he must be compassionate. He must exhibit deep interest in the art and science of healing. He must use his intelligence to discuss facts about the disease and to understand the clinical significance of symptoms. Such knowledge he must use not only for his own intellectual enrichment, but also for acquiring requisite skills in practical management. He must be humble and loyal to his teachers and instructors. He should be free from any addictions, greed, arrogance and intolerance.

THE ART OF PEDIATRIC DIAGNOSISThe ideal pediatrician must have genuine interest and love for children. The opportunity of nurturing one’s own children or grand children is a great learning experience for a pediatrician. He must be humane, systematic in his approach and genuinely interested in the welfare of his patients. He should exude confidence, patience and politeness to elicit co-operation of patients and his attendants. These qualities are crucial to generate faith of parents in his capabilities, which is a great healing force. He should approach children as children (not patients) with tact, gentleness, sympathy and genuine concern. He should have a sober and affectionate look so that children are not afraid of him. Unlike adults, children distrust the man who looks into their eyes. He must have scientific bent of mind, use logical 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”. He is a perpetual student, constantly learning and unlearning to transform knowledge into wisdom. The welfare of the patient must be considered as supreme and should take precedence over all other considerations including his personal pride or commercial gain. Nevertheless, he should not underestimate his own ability to make new and original observations. Above all, though medicine is a profession but life should never be weighed in gold – it is too precious!

Children are afraid of hospitals, doctors and needles and they should never be blackmailed through threats of injections to modify their behaviour. It is controversial whether pediatricians should wear white coats or not although it appears immaterial to me. The white coat does complement the professional attitude and inculcates a sense of discipline and decorum. The pediatrician must conduct himself with dignity, seriousness and respect towards parents regardless of how deviant their behaviour may appear at times of distress. He should establish a warm and cordial interpersonal relationship with his team members by virtue of qualities of his head and heart. He must demonstrate impeccable bed side manners and serve as a role model to his students. He should not merely be a healer but truly serve as a philosopher and guide to his patients, parents and students.

The Approach to Diagnosis

“The patients should not be viewed as systems, organs, tissues, cells and DNA. They must he viewed in totality (body, mind and soul) and that too not in isolation but in context with the dynamics of ecology, family, friends and society. ”

The methods of physicians are like those of a detective, one seeking to explain the disease, other a crime. The astute physician is endowed with sharp and sensitive special senses (especially keenness of observation) and must evolve the skills of a lawyer, detective and a judge. During the last decade a revolution in imaging technology by introduction of ultrasound, CT scanning, nuclear magnetic resonance, and positron emission tomography have eroded the confidence and enthusiasm of clinicians. It is a sad reality that physicians are becoming more of technocrats and losing the art of medicine. The patient is being fragmented into systems, organs, tissues, cells and even DNA ! It is crucial that we should not lose sight of totality of the patient and its interaction with social and ecological milieu. Instead of causing disuse atrophy of clinical judgement, the newer technology should be fully exploited and harnessed to improve clinical judgement and enhance the understanding of pathogenetic mechanisms underlying the disease process. The correct diagnosis of the underlying disorder and its probable etiology are crucial for rational management and prognostication. The diagnosis is based on elicitation of correct evidence and its analysis and interpretation in the light of knowledge, core information and experience of the pediatrician.

The Evidence

Just as evidence is crucial for a detective to identify the culprit, similarly sound evidence as collected by history, physical examination and investigations is of fundamental importance to solve the diagnostic dilemma.

History

The history should be sifted off undue parental anxiety and concern inorder to obtain a lucid chronological story with special emphasis on the onset and evolution of the disease process. Through a process of detailed symptom and system review, an attempt should be made to identify the organ/s affected by the disease process. Identify whether a single system is affected or you are dealing with a multisystem disorder. Attempt is made to categorise whether a disorder is acute, subacute and chronic/insidious and classify it into static, resolving or progressive in nature. The psychological, social, ethnic, geographical, ecological and genetic factors influencing the disease process should be identified. Race and ethnicity play an important role in the expression of disease. Inaddition to genetic factors, individuals with similar ethnic backgrounds share cultural, nutritional, environmental, economic, and social characteristics that influence the disease. An experienced pediatrician is able to emphasize the important, minimise unimportant and suppress irrelevant information in the history. It must be remembered that over 60 per cent of diagnoses can be correctly made by virtue of good history alone. It is important that no observation of the mother, whether apparently trivial or unimportant, should be ignored or set aside if it fails to fit into the tentative diagnosis. Indeed, it may be the most important clue or link to unravel the diagnostic puzzle.

Physical Examination

“A great pan, I believe, of the art of medicine is the ability to observe. Leave, nothing, combine contradictory observations and allow yourself enough time. ”

The history tells of events which have led to the present condition of the patient while 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 examination depends upon the experience, skills and thoroughness of the pediatrician. More errors are made by making cursory incomplete examination than due to lack of knowledge and skills. The approach during examination should be both humane and systematic. The pediatricians must have inherent fondness and love for children and examine them with warm hands and warm heart. The examination chamber should be warm, familiar, well lighted and stocked with soft toys. Deep yellow or blue colored curtains should be avoided in the examination chamber because they may interfere with interpretation of jaundice and cyanosis. The children must be treated as children and not patients and examination should be conducted in an unstructured playful manner. The maximum time should be devoted to observation of the child and to the system or organ which appears to be predominantly effected on the basis of history. Pediatrics deals with children from birth to adolescence, varying in size from less than 1.0 kg to over 40 kg and having different grades of functional maturation of various organs. The pediatrics has been likened to a flying bird which deals with dynamic, evolving and changing size and maturity of children. The knowledge regarding developmental anatomy, developmental pharmacology, developmental biochemistry and developmental biology in general is crucial for proper evaluation of normal children at different ages for appreciation of abnormalities or deviations due to diseases. The developmental or functional status of the child affects the incidence and expression of various diseases and conversely diseases may adversely affect the growth and development of children. The lymphoid tissue is physiologically hypertrophied in children leading to large tonsils or cervical lymphadenopathy following minor infections.

Investigations

They are useful to assess the degree of organ dysfunction, assist in confirming the diagnosis, help in management, prognostication and follow up. The pediatrician should be aware of limitations of all laboratory tests and follow the philosophy that laboratory should be used as a slave and not a mistress. You must have faith in your clinical acumen and use laboratory as an aid for confirmation of diagnosis inorder to provide effective management to the patient. The approach should be to treat the patient and not his laboratory reports. Nevertheless, diagnosis should not be delayed by postponing essential investigations. Timely laparotomy may be life saving in a child with acute abdomen, undiagnosed lump and for differentiation between neonatal hepatitis and extra hepatic biliary atresia. The children with cervical lymphadenitis should not be given a trial of antitubercular therapy unless the diagnosis is confirmed by fine needle aspiration cytology or lymphnode biopsy.

The Core Knowledge

“To study the phenomena of disease without books is to sail an uncharted sea, while to study books without patients is not to go to the sea at all……… ”

The evidence generated by painstaking history, physical examination and investigations should be viewed in the light of available knowledge and experience of the pediatrician. Every pediatrician should be aware of the essential features and criteria of common childhood disorders. It must be remembered that no symptom or sign has a 100 per cent frequency or specificity in a disorder. In general the manifestations of diseases are rather atypical among neonates and infants. You must have an uptodate knowledge pertaining to the current state-of- the-art for diagnosis and management of common pediatric problems otherwise you will get rusted and outmoded. The physician must be equipped with some core knowledge because chance favours only the prepared mind. It is well known that what mind knows, he is more likely to explore and discover in the patient. The diagnosis of acute post-streptococcal glomerulonephritis can only be made if one knows that it is characterized by acute onset of puffiness and edema feet, oliguria and smoky urine (microscopic hematuria), hypertension and azotemia following two weeks later after an inadequately treated attack of acute streptococcal pharyngitis.

The Art of Diagnosis

“Oh God, let my mind be ever clear and enlightened. By the bedside of the patient, let no alien thought deflect it. Let everything that experience and scholarship have taught it be present in it and hinder it not in its tranquil work. For great and noble are those scientific judgements that serve the purpose of preserving health and lives of thy creatures……….. ”

The diagnostic process is one of the greatest challenges in medicine. The evidence (demography, epidemiology, signs, symptoms, investigations) pertaining to the patient is sifted and analyzed 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 weighed to arrive at a final diagnosis. The physician should have thorough understanding of basic principles and be aware of limitations of his own knowledge to avoid dogmatism. There is no place for expressions such as NEVER and ALWAYS in medicine. The greater the ignorance, greater is the dogmatism. The following principles are useful to keep in mind while making a diagnosis:

1. The psychogenic label is the commonest refuge of the diagnostically destitute. The functional disorder should be diagnosed both by exclusion of an organic disorder and by the presence of positive evidences of a psychogenic disturbance. The attention must be paid to the whole child along with his environment rather than merely to his body organs. The focus should be the child and not his disease. Ask how the index child differs or compares with other siblings. The behaviour and personality disorder in a child is a reflection of parental discord and the child should be considered as a barometer of the family’s emotional climate.

2. Remember the stark reality that common diseases occur more commonly. The rare manifestations of a common disorder are more common than the common manifestations of a rare disorder. When a symptom or a sign is commonly found in a large number of diseases, its absence is more significant than its presence for making a specific diagnosis.

3. Effort should be made to fit the total clinical picture into a single diagnostic entity. This is more often possible in a child as compared to an adult. No diagnosis should be taken for granted, even when it is attributed to a reliable physician or a medical center, unless it is based on sound evidence and logic.

4. Avoid masking symptoms and signs by giving drugs in an evolving disease process. Do not instil mydriatics into the eyes for examination of fundus in a child with head injury or alteration of sensorium because this would compromise the diagnostic utility of pupillary size. In a case of undiagnosed acute abdomen or head injury, strong analgesics and sedatives should be avoided.

5. Do not delay surgical diagnostic procedure or a laparotomy when ever indicated.

6. The diagnosis of a curable disease should not be overlooked. When clinical picture is compatible both with tuberculosis and Hodgkin’s disease, it is preferable to treat the patient for the former.

7. Do not allow social position of the patient or family to limit your examination. Undress the child completely whenever necessary. Incomplete or cursory examination is the most important cause of diagnostic misadventures.

8. The diagnosis may be made in stages and don’t hesitate to revise your diagnosis after a period of observation. The appearance of new symptoms and signs, as the disease evolves, may offer additional diagnostic clues. Sir Robert Hutchison, the legendary clinician, has enunciated several don’ts for the diagnosticians.

The Diagnostic Possibilities

In allopathic system of medicine, most diseases can be classified into eight broad etiologic groups. Infections account for over 75 per cent of all diseases. In children, deficiency disorders especially protein-calorie malnutrition constitute the core health problem which makes children susceptible to develop infective disorders which run a relatively fulminant course. Most genetic (inborn errors of metabolism), chromosomal and developmental abnormalities manifest during childhood. The overt degenerative disorders are uncommon in children but there is a need to identify various clinical and laboratory markers for these disorders so that preventive strategies can be instituted during childhood to reduce the burden of these diseases during adult life.

Don’ts 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 diagnose two diseases simultaneously
* Don’t be too cocksure
* Don’t be biased
* Don’t hesitate to revise your diagnosis

The spectrum of diagnostic possibilities
Etiology Spectrum of diseases
Infections Viral, bacterial, fungal and parasitic
Exogenous toxins and injuries Drugs, chemicals, foreign body, trauma, bums, electric shock
Deficiency disorders Hypoxia, dehydration, protein-calorie malnutrition, deficiency of minerals, vitamins, micronutrients, hormones
Developmental disorders Genetic, chromosomal disorders, congenital malformations
Neoplasms Benign or malignant
Allergic, hypersensitivity, or autoimmune disorders Allergic diathesis, atopy, post infectious, collagen disorders, vasculitis etc.
Degenerative disorders Atherosclerosis, CNS degenerative disorders ?
Psychogenic and psychosomatic disorders Breath-holding spells, enuresis, recurrent abdominal pain, conversion reaction, drug addictions, conduct disorders, behaviour disorders, infantile autism etc.

It is essential to make a complete diagnosis including the primary condition and its associated complications like inter-current infections and unrelated disorders. For example; protein-calorie malnutrition, marasmic type, faulty feeding and weaning practices, recurrent diarrhea, hypothermia, nutritional anemia, zinc deficiency, primary pulmonary complex and scabies.

The Rational Management

“A person may have learnt a great deal and still be an exceedingly unskillful physician, who awakens little confidence in his powers………  . The manner of dealing with patients, of winning their confidence, the art of soothing and consoling them, or of drawing their attention to serious matters – all this cannot be learnt from books …….. ”

The purpose of making a correct diagnosis is to institute rational therapy and provide prognostic guidelines to the family. It is desirable to use familiar drugs which have withstood the test of time. The newer drugs or procedures are not necessarily better. Provide global care to the child rather than mere cure against a disease process. Complete and comprehensive advise regarding diet, personal hygiene and immunisations should be given to all children irrespective of the underlying disease process. The physician must establish a rapport with the child and his parents to provide emotional support and win their confidence. The pediatrician 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, palliatively for relief and consolingly for comfort. What we don’t say and what we do say, how we say it and when we say it, makes all the difference between helping and not helping our patients. These attributes and skills cannot be learnt from books but by emulating the example of one’s model teachers which are of course a dwindling tribe in the modern commercialised society.

The patients and attendants have emotional feelings and one should avoid saying “nothing can be done” (because something can always be done), “there is nothing wrong” (even when it is a functional disorder), “Don’t worry”, “it is all right” etc. Identify the major worries and fears of the child and his parents. Relieve their anxiety, reassure them and restore their confidence so that the will to fight is never dulled or extinguished. It is preferable to use a single most appropriate therapeutic agent, in an optimal dose administered through the most convenient and acceptable route, rather than to institute a shot gun therapy with half a dozen drugs. There is hardly any place for use of injections in ambulatory pediatric practice except for the administration of vaccines and treatment of anaphylactoid reaction. The news regarding the incurable or serious disease in a child should preferably be disclosed to both the parents simultaneously by the consultant with due concern, sympathy and compassion. The dialogue should be unhurried and parents should be encouraged to express their feelings and ask questions. It has been rightly said by Bernie Siegel that “ our power to heal people and their lives seem to have diminshed as dramatically as our power to cure diseases has increased by the technology boom”. In the maze of scientific advances, we seem to have lost the human touch. There is a need to resurrect the art of medicine. There is no doubt that sincere efforts should be made to become a knowledgeable and skillful physician but we should strive to evolve as effective healers and above all good human beings. These virtues of physicians are extolled in Charak Samhita “…Though shall behave and act without arrogance and with undistracted mind, humility and constant reflection, though shalt pray for the welfare of all creatures…”