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Appendix: A Proposed Approach to Nosology Ronald B. David, MD While the practice of medicine has experienced major technological advances in recent years, nosologic systems (e.g., International Classification of Diseases – 10 and the Diagnostic and Statistical Manual – IV of the American Psychiatric Association) present at times a confusing array of diagnostic possibilities. Many diseases/disorders may even be represented in more than one place in the diagnostic system. Lack of a comprehensive framework leads to diagnostic confusion in the clinical, teaching, and often in the research setting. Clearly, organization and orderliness are needed to better discriminate between entities. Webster's International Dictionary defines nosology as the branch of medical science that deals with the orderly classification of diseases. My purpose is to propose such a system. This system will submit a priori that if a disease/disorder exists, there must also exist features which discriminate it from similar entities. It is clinically derived by expert opinion, categorical and multi-dimensional. Where the state of the art permits, discriminators have been empirically validated. Classification issues have historic roots. Hippocrates suggested that "whoever undertakes to speak or write on medicine, should have first laid themselves some hypothesis as to their argument, such as hot or cold or moist or dry or whatever else they choose, thus reducing their subject within a narrow compass." The work of Thomas Sydenham on acute diseases first published in 1675 is seminal. Sydenham suggested that all diseases can be classified as to a certain definite species in the same manner as botanists describe their plants. He further suggested that pathologic phenomena should be described in precise detail in the same way that a portrait painter seeks to capture the likeness of a subject. He noted that particular and constant symptoms should be distinguished from accidental phenomena. John Locke, in describing Sydenham, suggested that he had a poor opinion of those who attempted to look at disease from a chemical point of view. On the other hand, he noted that Sydenham recognized the utility of chemotherapeutics, recognizing, for instance, that certain chemicals could induce vomiting, implying that treatment outcome was not a good basis for classification, but overlooking its potential value as a validator of diagnosis. Carl Linné graduated as a doctor of medicine in 1735. While he is best known for his biological classification system (e.g. phyla, genera, species), his attempt to use this approach for medicine was never widely accepted, principally because of a confusion between the definitions of symptom and disease. Laennec in 1826 was among the first to link symptoms to pathologic anatomy when he described the pathology of disseminated tuberculosis. In the mid-nineteenth century, the pathophysiologic basis of disease came into focus. Methods for counting cells, methods for the measurement of the color of blood, as well as methods for the examination of urine, were developed. In the later nineteenth century, an etiologic approach for the classification of disease became possible with the identification of a specific bacterium as the cause for a specific disease (Koch-Pasteur). This became the first good example of using the best and most robust discriminator, etiology. As the reader can see, there was therefore an evolutionary progression from phenomenologic descriptions to those which were based on etiology. Each reflected the state of knowledge at that time. Many disorders in psychiatry and neurology still can be described only phenomenologically. While seemingly the least robust, phenomenologic validity is attainable. Skinner suggested that a phenomenologically based system should have certain features so as to make descriptions of specific entities valid. These include reliability; that is, agreement across examiners using the same diagnostic methodology; coverage, referring to the applicability of the classification domain of the patients for which it was intended; descriptive validity, implying homogeneity in characterizing behavioral symptoms, personality characteristics, social history data, and other kinds of information which are used to make a diagnosis; and predictive validity, where a classification system can determine the potential effectiveness of treatment or the natural history of a psychiatric disorder. While Skinner's conceptual framework was meant to be applied to psychiatric disorders described phenomenologically, it can obviously be generalized. It can also provide a mechanism for a classification system. Classification in science is important to medicine. A successful and therefore useful classification should be simple and easy to use. Secondly, it should be organized hierarchically and have the flexibility to reflect the state of the art as it evolves. Lastly, the goal ideally should be to define the disease/disorder etiologically through the rigorous application of the scientific method. Classification domains in medicine are usually defined according to the following schema: 1 phenomenologically, by listing commonly agreed observations and distinguishing between entities based on these observations (a good example of this would be the clinical classification of the epilepsies); 2 anatomically, by the site of origin of the disorder; 3 pathologically, by the gross or microscopic pathologic anatomy, revealed by either traditional pathologic study or imaging; 4 pathophysiologically, by demonstrating altered chemical or electrophysiologic parameters; 5 etiologically, by cause. Under these general domains, subdomains can be identified, e.g. histopathology versus radiologic pathology. Much of the confusion that arises in diagnosis occurs when the clinician crosses classification domains – for example, the inclusion of an anatomically oriented "temporal lobe seizure" in a phenomenologically based classification system that includes complex partial seizures. It is, therefore, extremely important from both a clinical and a research standpoint that the classification domain to be used should be pre-determined, and that contrasting discriminators be comparable (e.g. bacterial meningitides should not be enmeshed with viral meningitides). For a disease/disorder to exist, it must have some feature or features which discriminate between it and similar entities. Discriminating features may have inclusionary as well as exclusionary features. The ideal is to have a single discriminator. This then makes the contrast between a particular entity and similar entities more robust. When there is more than a single discriminator involved, this in essence becomes a criterion-based system. While this is obviously less robust, a criterion-based system may simply reflect the state of the art. Just as there are discriminant features, disease/disorder entities often have consistent as well as variable features. In the current Mosby/Yearbook Neurology/Psychiatry Access Series, the series editor has defined consistent features as those that occur 75% of the time and variable features as those that occur less than 75% of the time. These need not be consistent with the discriminator domain, i.e. cerebral spinal fluid glucose is consistently low in bacterial tuberculous meningitis. Tables I–III reflect what is believed to be the best way of distinguishing between these and similar entities, again reflecting the state of the art. In this textbook series, contributor experts were asked to identify discriminant, consistent, and variable features. William Nyhan used this model for distinguishing inborn errors of metabolism from one another using pathophysiologic discriminators. Current knowledge permitted the use of only one discriminator (Table I). When the defective gene is identified for each of these disorders, each can then be discriminated from the other based on genotype. This will enhance etiologic discrimination and will more powerfully distinguish similar entities from one another. Joseph Sirven and Michael Sperling use the same system to classify the epilepsies, but the result is much different (Table II). In this case, discriminators are phenomenologically based, again reflecting the state of the art. A phenomenologically based system is probably the most appropriate to use at this state of the art rather than using one that is etiologically derived. Unfortunately, the universal use of this system will probably impede its evolution into a system which is etiologically based, although usage alone should not preclude developing an etiologically based system. Practicality also plays an important operative function in domain selection. To demonstrate that this system can be applied to other medical diseases/disorders, the reader is referred to Table III. Here valvular stenotic heart disease is classified using this nosologic system. It should always be acknowledged that classification of science is dynamic, not etched in stone, but clearly in order that clear discourse be possible. Medicine needs a clear nosologic framework today, irrespective of how it may have changed. In summary, to put this system into operation, experts should agree on the following questions. 1 Which features discriminate one group of similar diseases/disorders from one another (e.g. enzyme 2 Into what classification domain does this fall (e.g. genetic disorder – defective gene, pathophysiologic 3 Can a single discriminator suffice, or are multiple discriminators required, reflective of the state of the art (e.g. in a genetic disorder, a single discriminator is sufficiently robust)? 4 If multiple discriminators are needed (i.e. a criterion-based system), are inclusionary as well as exclusionary criteria to be used? 5 What consistent and variable features should be used to enhance understanding and more clearly define 6 What should be the relative frequency to distinguish between consistent and variable features? In conclusion, I propose that as knowledge permits, medicine should define a discriminator-based system for the classification of diseases and disorders. The use of additional consistent and variable features will further enhance distinctions between diagnostic entities. Acknowledgements The author wishes to acknowledge Dr Robin Morris, Dr Isabelle Rapin, Dr Jack Fletcher, and Dr Barbara Wilson, who fostered the author's interest in nosologic issues, and the National Institute of Neurologic Disease and Stroke, which provided support for the author's desire to apply nosologic perspective to disorders of higher cerebral function in children (Nosology: Higher Cerebral Function in Children) (NINDS 1PO1 NS20489–01A1). The author also wishes to acknowledge the invaluable assistance of Dr G. Thomas Albrecht, who prepared the table describing the features of valvular stenotic heart disease, and C. L. Womack who reviewed the manuscript. Fader K: Nosography in Modern Internal Medicine. New York, 1922, Paul B. Hoeber, Inc. King LS: Empiricism and rationalism in the works of Thomas Sydenham. Bull Hist Med 44(1), Jan–Feb, 1970. Nyhan WL: Child and adolescent neurology, ch 13. In: David RB (ed): In-born Errors of Metabolism. II Disorders of Purine and Amino Acid Metabolism. St Louis, Missouri, 1998, Mosby/Yearbook, Inc., pp. 359–378. Riesman D: Thomas Sydenham, Clinician. New York, 1926, Paul B. Hoeber, Inc., p. 17. Sirven JI, Sperling MR: The epilepsies, ch 14. In: Corey-Bloom J (ed): Adult Neurology. St Louis, Missouri, 1998, Mosby/Yearbook, Inc. Blashfield RK, Draguns JG: Evaluative criteria for psychiatric classification. J Abnorm Psychol 83(2), 140–150, 1996. US Patent Numbers 7433520 B 1, 7613343 Nosologic System of Diagnosis Lesch–Nyhan syndrome
Discriminating feature
Consistent features
Variable features
Complete deficiency of hypoxanthine- guanine phosphoribosyltransferase 3 Mental retardation 3 Urinary tract stones 4 Spastic cerebral palsy 4 Urinary tract infections 5 Chroeoathetosis 6 Self-mutilation 6 Urate nephropathy
Purine nucleoside phosphorylase deficiency
Discriminating features
Consistent features
Variable features
1 Deficiency of PNP 1 Immunodeficiencies Neurologic abnormalities 2 T-cell depletion 5 Nucleoside accumulation
Phenylketonuria
Discriminating features
Consistent features
Variable features
1 Deficient hepatic phenylalanine 1 Mental retardation 2 Elevated plasma phenylalanine 2 Diminished pigment 2 Eczematoid rash 3 Depressed plasma tyrosine 3 Phenylpyruvic aciduria 4 Phenyllactic aciduria 4 Restriction fragment length 5 Phenylacetylglutamic aciduria
Abnormalities in the metabolism of biopterin
Discriminating features
Consistent features
Variable features
1 Defective activity of dihydropteridine 1 Hyperphenylalaninemia 2 Degenerative neurologic disease 2 Evidence of deficient synthesis of 3 Dystonic movements tetrahydrobiopterin
Maple syrup urine disease
Discriminating features
Consistent features
Variable features
Complete deficiency of branched-chain 1 Elevated concentrations of leucine, isoleucine 1 Maple syrup odor to urine ketoacid decarboxylase 2 Mental retardation 2 Positive dinitrophenylhydrazine test of urine 3 Spasticity 3 Branched-chain ketoaciduria 7 Hypodense cerebral myelin
Disorders of propionate metabolism
Discriminating features
Consistent features
Variable features
Deficiency of propionyl-CoA carboxylase 1 Methylcitraturia 1 Hyperammonemia 2 Hydroxypropionaturia Disorders of propionate metabolism
Discriminating features
Consistent features
Variable features
3 Propionicacidemia 3 Hyperglycinemia, hyperglycinuria 4 Recurrent episodes of ketosis and acidosis, 4 Pathologic fractures leading to coma and potentially fatal illness 5 Mental retardation 6 Immunodeficiency 7 Abnormal MRI of the basal ganglia
Methylmalonicacidemia
Discriminating features
Consistent features
Variable features
Deficiency of methylmalonyl CoA mutase As in propionicacidemia, plus failure to thrive As in propionicacidemia
Multiple carboxylase deficiency
Discriminating features
Consistent features
Variable features
1 Deficiency of holocarboxylase As in propionicacidemia, plus As in propionicacidemia 2 Deficiency of biotinidase 3 Lacticacidemia, lacticaciduria 4 Deficient leukocyte carboxylases 5 Convulsions in biotinidase deficiency 6 Sensorineural deafness and visual defects in biotinidase deficiency 7 Ataxia in biotinidase deficiency
Isovalericacidemia
Discriminating features
Consistent features
Variable features
1 Isovalerylglycinuria 1 Episodes of acute illness 1 Acrid "sweaty foot" odor 2 Deficiency of isovaleryl-CoA 2 Mental retardation 3 Neutropenia, thrombocytopenia 3 Hyperammonemia
Glutaricaciduria
Discriminating features
Consistent features
Variable features
Glutaricaciduria Metabolic acidosis 3 Cerebral degeneration 4 Involuntary movements Discriminating features
Consistent features
Variable features
1 3-Hydroxy-3-methylglutaricaciduria 1 3-Methylglutaconicaciduria 1 Lacticaciduria 2 3-Hydroxy-3-methylglutaryl-CoA lyase 2 3-Methylglutaricaciduria 2 Lacticacidemia 3 Hypoketotic hypoglycemia 3 Hyperammonemia 4 Acute overwhelming illness 5 Metabolic acidosis 6 Lethargy or coma 7 Elevated liver function tests 9 Cerebral atrophy Discriminating features
Consistent features
Variable features
Succinic semialdehyde dehydrogenase 1 -Hydroxybutyricaciduria 4 Mental retardation
Nonketotic hyperglycinemia
Discriminating features
Consistent features
Variable features
1 Elevated CSF and plasma glycine ratio 1 Hyperglycinemia 2 Hyperglycinuria 3 Neonatal coma and apnea 3 Increased deep tendon reflexes 4 Myoclonic seizures (infantile spasms) 5 EEG burst suppression pattern 6 Cerebral atrophy
Homocystinuria
Discriminating features
Consistent features
Variable features
1 Homocystinuria Mixed disulfide of cysteine and homocysteine in 1.Hypermethioninemia 2 Cystathionine synthase deficiency 2 Ectopia lentis 3 Mental retardation 4 Thromboembolic phenomena 5 Failure to thrive
Urea cycle disorders
Discriminating features
Consistent features
Variable features
1 OTC deficiency 1 Oroticaiduria in OTC deficiency 1 Hyperalaninemia 2 CPS deficiency 2 Hyperammonemia in OTC deficiency 2 Hyperaspartic acidemia 3 Argininosuccinic synthase deficiency 3 Hyperglutaminemia in OTC deficiency 4 Argininosuccinase deficiency 4 Coma in OTC deficiency 4 Mental retardation CPS deficiency as in OTC, except for orotic 5 Trichorrhexis nodosa (in argininocuccinic aciduria) Citrullinemia as in OTC deficiency, plus As in OTC deficiency, plus 7 Increased concentrations of argininosuccinate in urine and CSF
Argininemia
Discriminating features
Consistent features
Variable features
1 Arginase deficiency 1 Spastic diplegia 1 Hyperammonemia 2 Developmental delay 3 Abnormal liver function tests 5 Involuntary movements 5 EEG abnormalities The epilepsies
Simple partial seizures
Discriminating features
Consistent features
Variable features
1 No impairment of consciousness 1 Brief duration 1 May manifest as abnormal sensations (smells, flashing lights, paresthesias), 3 Focal spikes in interictal EEG 3 No impairment of consciousness focal motor activity, or psychic 4 No post-ictal period phenomena (déjà vu, fear) 2 Associated with a focal structural lesion 3 May occur independent of or before a complex partial seizure
Complex partial seizures
Discriminating features
Consistent features
Variable features
1 Consciousness is altered 1 Approximately 60- to 180-second duration 1 Presence of aura 3 Focal spikes in interictal EEG 3 Post-ictal confusion 3 Autonomic features 4 May secondarily generalize to a tonic– 5 Associated with focal structural lesion 6 May elevate prolactin level
Generalized tonic–clonic seizures
Discriminating features
Consistent features
Variable features
Initial tonic phase followed by clonic 1 Loss of consciousness 1 Tongue biting or injury activity involving all extremities 2 Typically 60 seconds duration 2 Urinary incontinence 3 Post-ictal period associated with confusion 3 Nonspecific prodrome 4 Post-ictal paralysis 4 Elevation of prolactin
Absence seizures
Discriminating features
Consistent features
Variable features
1 Very brief duration (5 to 15 seconds) 1 EEG correlate to typical absence of 3 cycles 1 Automatisms 2 Family history of typical absence per second of generalized spike-and-wave; 2 Change in body tone in atypical absence of 1.5 to 2.5 generalized 3 Precipitation by hyperventilation 3 Response to ethosuximide and 3 Impaired consciousness 4 No post-ictal state
Myoclonic seizures
Discriminating features
Consistent features
Variable features
1 Shock-like muscle contractions 1 Brief duration 1 Specific muscle groups involved (isolated 2 No impairment of consciousness or whole body; unilateral or bilateral) 3 No post-ictal state 2 Association with a progressive neurologic 4 Generalized spike wave in the interictal 3 Occur spontaneously or may be provoked by sensory stimulation
Mesial temporal lobe epilepsy
Discriminating features
Consistent features
Variable features
1 Unitemporal or bitemporal spikes in the 1 Simple partial and/or complex partial seizures 1 MRI demonstrating hippocampal 2 Impaired memory atrophy or a focal temporal structural 2 Hippocampal sclerosis 2 History of febrile convulsions at an early 3 Psychic or emotional auras
Juvenile myoclonic epilepsy
Discriminating features
Consistent features
Variable features
1 Multiple seizure types including 1 Onset at puberty 1 Concurrent absence seizures myoclonic seizures, absence 2 Seizures often occur shortly after awakening 2 Seizures precipitated by sleep seizures, and generalized tonic–clonic 3 4 to 6 Hz generalized polyspike and slow 3 Normal neurologic examination 2 Presence of myoclonus 4 Good response to ethosuximide or valproic
Lennox–Gastaut syndrome
Discriminating features
Consistent features
Variable features
Triad of (1) mental retardation, (2) 1 Atonic seizures 1 Association with symptomatic early brain generalized slow spike-and-wave on 2 Onset before age 8 EEG, (3) multiple seizure types – atonic, 3 Seizures are refractory to treatment 2 Cryptogenic onset in 30% of cases atypical absence, myoclonic, partial, and 4 Poor prognosis 3 Behavioral disturbances tonic–clonic seizures
Psychogenic seizures
Discriminating features
Consistent features
Variable features
1 Normal EEG during seizures and in the 1 Manifestations of episodes (altered 2 Variability in duration of episodes interictal state responsiveness, motor activity, 3 No increase in serum prolactin 2 Never occur during sleep 4 Induced by suggestion 2 Asynchronous extremity movements 3 Minnesota Multiphasic Personality Inventory suggestive of conversion Valvular stenotic heart disease
Pulmonary stenosis
Discriminating features
Consistent features
Variable features
1 Echocardiographic appearance 1 Systolic murmur 1 EKG changes 2 Ejection clicks 1 Sub-pulmonary 2 Supravalvular
Aortic stenosis
Discriminating features
Consistent features
Variable features
1 Echocardiographic appearance 1 Systolic murmur 1 EKG changes 2 Chest pain 3 Ejection clicks 2 Sub-aortic (membranous vs. idiopathic hypertropic sub-aortic stenosis)
Mitral stenosis
Discriminating features
Consistent features
Variable features
1 Echochardiographic appearance 1 Diastolic murmur 1 Opening sound 2 Pulmonary edema 3 Wheezing (cardiac) 1 Suprastenosis ring
Tricuspid stenosis
Discriminating features
Consistent features
Variable features
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Alpers syndrome
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