Epilepsy: A Comprehensive Textbook
2nd Edition

Chapter 70
History and Physical Examination
Jean Aicardi
David C. Taylor
Introduction
Careful and detailed history taking remains the cornerstone of accurate diagnosis of epilepsy,13 the prototype of diseases for which the diagnosis rests entirely on clinical grounds and especially on history—the diagnosis is as good as the history.16 Therefore, history taking and physical examination should be performed in a comprehensive and methodic manner, although flexibility in their practical modalities is an absolute requirement in the examination of children, especially younger ones. The investigation of any disorder should be scaled in proportion to the severity of the problem. Epilepsy has a tremendous impact on patients’ lives, both physically, because it is a threatening and dangerous condition, and psychosocially, because of its chronicity, the fears it generates, and the still-present prejudice against affected persons. Therefore, patients with a suspected diagnosis of epilepsy should be investigated using all means necessary for making a definitive diagnosis, establishing a prognosis, and planning the proper treatment. The necessary investigations vary with the clinical presentation and need not include much in the way of laboratory or other ancillary examinations. However, the process often requires considerable time and is best completed from onset. A succession of fragmentary assessments that may initially seem to save time often results in delaying the diagnosis, sometimes with disastrous consequences, and usually turns out to represent a considerable waste of time.
Taking a history of a paroxysmal disorder demands a proper technique of medical interrogation and a good knowledge of the protean manifestations of the disorder. The aim is to determine as precisely and reliably as possible the objective characteristics and course of a sudden, brief, and unexpected event that has occurred in a highly emotional context and is only partially recalled, often in a biased manner, by both the patient and witnesses. The objective of physical examination is to look for any evidence of an underlying cause, whether limited to the brain or involving other systems as well, as is the case with neurocutaneous disorders, chromosomal abnormalities, and some systemic illnesses.
History Taking
Background
History taking cannot follow strict rules and has to be adapted to each individual case and person. It is often wiser to take advantage of opportunities that may arise during conversation with the person relating the history than to try to maintain a chronologic and logically constructed questioning.
As previously indicated, history should be scaled in detail in proportion to the seriousness of the illness; therefore, it should be meticulously detailed for epilepsy. In some cases, apparently casual details are of tremendous importance.
Although the basic aims of history taking are fundamentally the same, there may be some variation depending on the position of the person taking the history, and the emphasis may not be the same for primary physicians and those in secondary or tertiary care. More importance may variably be given to clearing previous diagnostic confusion, to assessing overall life situation, or to reviewing treatment. History taking is also the first act of the doctor–patient relationship, with long-lasting consequences for the subsequent development of this relationship.
Some physical conditions of the room in which the history is taken are important. Information cannot be properly exchanged in impossible situations. Seating and lighting arrangements should be meant to favor communication, and disturbing factors, such as telephone calls or the repeated entrance of a secretary or colleagues, should not interfere with the exchange. It is essential that patients have the feeling that their personal history is being listened to and given the importance it deserves. This is one of the reasons that sufficient time should be allowed, even for relatively simple cases, and even if the doctor feels that questioning has been thorough. Time is also essential to gather information about fine details, which may constitute valuable cues. It may take a very long time to disentangle the threads of a history and reweave them into a true likeness to the event.16 Indeed, more than one session is often necessary. An additional advantage is that both patient and doctor can think again about the case and possibly come up with new questions or newly remembered details.
With children, the history is usually obtained mainly from parents or guardians, and such third-party questioning poses special problems. The child’s account, if any can be given, should be particularly facilitated. Older children and adolescents can contribute information on subjective phenomena that are unobtainable from any other source; such information may prove crucial for the diagnosis and be important to the young patients in coming to terms with their illness. One of the difficulties of third-party questioning is the increasing risk for biased and overrehearsed accounts, with the description of the attacks conforming more and more to a preconceived, once-and-forever established idea of what they are like, without the possibility of rectification on the basis of phenomena personally felt by the patient.
Another risk is to give credence to only one parent’s account, usually the mother’s, and ignore the other’s. Listening to both parents, however, might result in contradictory statements. A decision of which account is more credible must be made, which may be in part arbitrary. For these reasons, a fresh history and not a simple repetition of previously given accounts should be obtained at each new consultation. Accepting previous accounts uncritically is a major source of diagnostic errors. Jeavons10 emphasized the trap represented by a previous
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diagnosis of known epilepsy often based on a history that may not have been properly obtained. Such a diagnosis may nonetheless remain accepted for years, thus delaying the true diagnosis. Doctors’ and nurses’ accounts are potentially of great value. In some cases, however, they can also be misleading because professionals often have a tendency to describe attacks as they should theoretically be rather than as they are. Whoever the witnesses, critical scrutiny of their accounts is essential. A distinction should be drawn between first-hand versus second-hand witnesses and between witnesses who have been able to observe the whole of a seizure and those who saw only a part of it. An assessment of the degree of reliability of the witnesses has to be done. It should not be based only on how articulate they are; attempts at checking the veracity of their accounts (e.g., by gathering details that indicate whether they were really in a position to observe some reported phenomena) are important.
The style of history taking depends on individual patients and physicians. With some patients it may be best to listen first to their own account with minimal interference and later ask precise questions about specific points. With others, more directed questioning may be necessary to avoid garrulous, irrelevant, and interpretative accounts. In such cases, it is useful to formulate direct questions about uninterpreted events that are to be answered as yes or no. The meaning of terms has to be made clear and medical terms avoided as much as possible. It is often helpful to offer patients several simple words that are synonymous with medical terms, among which they can choose. Stephenson gave a useful list of such words.16 Questioning several witnesses may permit some cross-checking of data, and going back to the history to gain more and finer details can clarify some issues.
Obtaining a description of the paroxysmal events is the most important part of history taking, and it requires a high degree of attention and considerable time. The history, however, is not limited to this description. Such events occur in individual persons who react in their own way and in a given setting. Thus, there are two approaches to history taking—obtaining a history of the complaint and obtaining a history of the person.
History of the Complaint
It is often very useful and always recommended to ask for a description of specific attacks. This should especially include the last attack actually witnessed because it is better remembered. The physician should not forget that there may be two or several types of seizures. In such cases, efforts should be made to obtain a description of the most recent seizures of every type.
A description of the first seizure is also of great interest because it not infrequently differs from subsequent attacks. For example, it may have been a febrile convulsion followed by complex partial seizures. In addition, the impact it had on the patient’s life and the way the patient reacted to the first epileptic event can tell much with regard to later adjustment to the illness.
A description of the worst attack is also to be sought. It provides indications about the capacities for adjustment under maximal stress and about the scale of the clinical problem and the risk to life. The circumstances of occurrence, duration, and possible presence of postictal phenomena, such as Todd’s hemiplegia or aphasia, can give valuable clues to lateralization and localization.
The setting in which the attacks occurred may be of considerable significance. Epileptic attacks or nonepileptic paroxysmal events that simulate seizures are often nonrandom phenomena, and the circumstances of occurrence can be important for differential diagnosis and planning of investigations. Points of particular interest include the temporal relation of events to the sleep–waking cycle; for example, was the patient awake or asleep, and, if asleep, did the attack occur at onset of sleep, before or shortly after awakening, or in the middle of the night? In the case of daytime attacks, the following should be determined: Whether the attacks usually occur at a particular time (morning or evening) or apparently at random; the type of activity in which the patient is engaged at the time of seizures (resting, exercising, in bed, at school, playing, in a bath, eating or fasting, standing or reclining, using a computer, watching television or playing a video game, bored, emotionally disturbed, or engaged in a pleasant occupation); and the patient’s general state of health (concomitant or recent febrile or other systemic disease). In the case of a child taking antiepileptic drugs on a long-term basis, the temporal relationship of fits to drug ingestion, the possible failure to take one or several doses, and events such as vomiting or other digestive disturbances that may have interfered with absorption of ingested drugs should all be noted.
A prodrome is a long-term indication of a forthcoming attack. Prodromes (e.g., changes in behavior, such as irritability, sleepiness, feelings of hunger, sweating, hypothermia, distant feeling, and the like) are mostly absent or of secondary importance. Behavioral changes are more often seen before migraine attacks than before epileptic seizures; hunger and hypothermia can suggest hypoglycemia.
The search for a stimulus regularly associated with the occurrence of attacks is of extreme diagnostic interest and consequently should be systematic and thorough. Identification of the regular association of attacks with an immediate stimulus is often of greater value than even a description of the attacks. The significance of the fit may also be better pointed to by the type of stimulus than by the clinical phenomenology of the paroxysm. The regular precipitation of attacks by such stimuli as the sight of blood, blood letting, or injections, prolonged standing in hot or confined places, holding breath, or pain from minor trauma, such as bumping one’s head, is practically diagnostic of “anoxic seizures,”15 even when the induced attack is difficult or virtually impossible to differentiate from a convulsive generalized epileptic seizure, as in convulsive syncope.7,11 Conversely, such precipitating factors as flashing lights or startle strongly favor a diagnosis of epilepsy after such rare conditions as hyperekplexia have been excluded.3 Certain maneuvers—for example, Valsalva’s maneuver—can induce attacks that are very difficult to distinguish from seizures but are easily recognizable when the initial phenomena are well described.2
The analysis of the aura or first symptom of the seizure is so important that detailed questioning is required; the patient and witnesses should be asked to concentrate on that moment. A wide range of symptoms, from vague sensations (especially abdominal and visceral) to highly elaborate motor, sensory, and psychosensorial phenomena, occurs in epileptic seizures,9,17 but auras can occasionally precede attacks of other types, such as migraine (especially visual aura) or syncope.4,16 In addition, no description of auras is available with young children. The occurrence of an aura can sometimes be deduced from a child’s observed behavior, such as screaming, appearing terrified, and running to his or her mother, or suddenly stopping any ongoing activity and assuming an appearance of preoccupation and concentration. Although such events are often fairly vague, their regular presence indicates that a seizure is probably of localized origin or that any more apparent first symptom is not in fact initial and can be misleading if interpreted without knowledge of previous phenomena.
Reconstitution of the ictal sequence itself is difficult because most seizures are brief events with rapidly changing and multiple symptoms. So many things take place in so short a time that even the best witnesses are unlikely to be able to describe all
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aspects of the whole sequence. For that reason, monitoring with video in a hospital or, more easily, at home is extremely helpful. It is not, however, a substitute for history taking because it often does not allow a full view of the patient and provides no information on essential clues such as awareness, responsiveness, memory of events, and any cognitive or language involvement. Inquiry about ictal incontinence and tongue biting is traditional, but the presence of these symptoms is neither necessary nor specific for a diagnosis of epilepsy. Although lateral tongue biting is unusual in disorders other than epilepsy, it has been reported occasionally in syncope.11 The subjective estimation of the duration of a paroxysmal attack is very often exaggerated. The person taking the history should attempt to obtain temporal clues, such as the time elapsed before taking the child to the hospital or calling a neighbor for help or phoning the doctor. It is imperative to separate the duration of the active seizure itself from that of the immediate postictal coma, confusion, or sleep and therefore to ask specific questions in this regard. Very often, the duration initially reported includes the whole of the ictal and immediate postictal phases.
The manifestations of the postictal phase and their duration are of interest because they can provide useful lateralizing or localizing clues and indications about the severity of the ictal phase.
Asking witnesses to complement descriptions by miming seizures is often more informative than a purely oral account. Often, miming reveals features that would have easily gone unrecognized, such as asymmetry of posture. The doctor’s miming of features of seizures can be of considerable help to witnesses in distinguishing between jerks and vibratory tremor and understanding what an oro-alimentary automatism or different types of head turning look like. Certain types of seizures, such as infantile spasms or other minor seizures, are difficult to recognize, and parents often recognize them only when their features are demonstrated.
Finally, the rate of repetition of the attacks should be carefully recorded, as well as the regularity or irregularity of repetition and the occurrence of clusters. This should be done for each type of seizure.
Patient History
This includes the patient’s life and developmental history; aspects of social, behavioral, and cognitive functioning; and the family history, especially of seizures and other neurologic disorders.
Developmental History
Developmental history is recorded along traditional lines, with special emphasis on the perinatal period; milestones, such as age of independent walking and first talking; and school performance, which in older children is particularly useful for the assessment of cognitive functions. A precise history of previous diseases, especially meningitis, encephalitis, and febrile convulsions, including attempts to determine their length, possible lateralization, and the presence of any localized postictal deficit or other episodes of loss of consciousness, is of obvious importance. Any severe or unusual disease should be recorded. It should be remembered that a previous history of seizures or central nervous system disease, however significant, does not necessarily indicate that subsequent paroxysmal events are epileptic.
History of Epilepsy
A history of the epilepsy (once the epileptic nature of the child’s seizure has been authenticated) should be reconstructed in great detail. Age of onset, initial manifestations, change in frequency and type of seizures, occurrence of episodes of status, presence of deterioration or stagnation (cognitive, behavioral, or both), and any previous investigations should be determined. A precise drug history is of particular importance for a rational treatment, but this is difficult to obtain. It requires considerable effort to collect old prescriptions and determine the duration of drug trials. When available, blood levels of drugs can give precisely dated indications of the adequacy of previous treatments; these should be correlated with the presence and frequency of attacks as well as side effects during the corresponding periods. Family history of neurologic diseases and especially of seizures may be important for diagnosis and prognosis, but it is often difficult to elicit, and the significance of paroxysmal events that occurred many years earlier is often impossible to assess. If medical records, electroencephalographic reports, or other results are available, they should be scrutinized carefully because some types of epilepsy have a strong genetic component.
The Person With Epilepsy
It is essential that the physician gain a sufficient knowledge of the patient as a person. Therefore, the patient’s life history, personality, and interests should be reviewed. This will help in assessing the degree of disturbance caused by epilepsy, which varies considerably depending on preferred activities. Persons with active lifestyles, such as athletic individuals, may well find themselves more handicapped than individuals more inclined to reading or a sedentary lifestyle, at least in terms of physical risk. The type of personality may help to predict how a patient will respond to the challenge of epilepsy. The social background will in part determine the sort of explanation and advice given. Assessing the family background and trying to determine to what extent the family may help or represent an additional problem are also important; the attitudes of any other group to which the patient belongs will also be significant. All this information will influence the manner of addressing the patient, the way of conducting the investigations, and the expectation of success in treatment.
The impact of epilepsy on a patient’s emotional, professional, and social status is extremely variable, depending on the combination of disease manifestations and the patient’s personality and manner of living. Assessment of this impact will largely determine a number of essential decisions, for example, the respective indications of medical and surgical treatment. With children, the disorder affects both the patient and the family. The attitude of parents regarding the risks they are ready to accept and their level of expectations greatly affects their way of coping with the disease. For children and adolescents, school is not only a major part of their present life, but is also a critical determinant of the rest of their existence. Inquiring about school performance is therefore of the utmost importance. Moreover, children with epilepsy who have a satisfactory cognitive level and reasonable capacity for paying attention may be capable of attending a school for normal children, but the real learning problems of some well-behaved children may be overlooked.
Physical Examination
Neurologic Examination
The neurologic examination should take into account the interval since the last seizure. If it is performed within minutes
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or occasionally hours after a fit, the physician should look for postictal signs, especially focal signs such as Todd’s hemiparesis, even of a minor grade. Transient aphasic symptoms are also important to detect. Care should be taken to separate postictal confusion from true aphasia. Postictal symptoms and signs of localizing or lateralizing significance are not uncommonly the clue to the localized origin of a seizure otherwise reported by witnesses as generalized. When the examination is performed after some time has elapsed since the last seizure, the main objective is to determine whether there are signs of permanent nervous system dysfunction, favoring a diagnosis of symptomatic epilepsy, and if there is evidence for a focal brain lesion. Signs of increased intracranial pressure should be looked for but are rather uncommon. Only undoubted neurologic abnormalities are of value. The so-called soft signs cannot be accepted as sole evidence of brain damage. Additional neurologic signs of interest include language difficulties and possible evidence of drug toxicity such as nystagmus, ataxia, diplopia, or tremor. When appropriate, tests for laterality should be performed because patients with epilepsy related to brain damage have an unusual incidence of left-handedness or mixed laterality, in contrast to patients with idiopathic epilepsy.14
General Medical Examination
Skin Examination
Examination of the skin is of particular importance because neurocutaneous syndromes are a frequent cause of epilepsy in children. The presence of cutaneous features of tuberous sclerosis, such as depigmented nevi, fibrous plaques, shagreen patches, or facial angiofibromas, or the presence of a facial flat angioma in the region of the trigeminal nerve, characteristic of Sturge-Weber syndrome, is particularly important. Linear nevus of the face, cutaneous signs of neurofibromatosis, and abnormal pigmentation, as in incontinentia pigmenti or Ito’s disease, are also significant.8
The growth and general appearance of patients can also provide diagnostic clues. Epilepsy is a major manifestation of many dysmorphic syndromes, for example, Angelman’s disease.18 Body asymmetries are of particular importance. Epilepsy is not rare in association with hemihypertrophy. Facial asymmetry has been reported to be associated with temporal lobe epilepsy.5,17 Unusual shape and especially size of the skull may suggest craniosynostosis, hydrocephalus, chronic subdural hematoma, or arachnoid cysts.
Eye and Visual Examination
Eye and visual examination should aim to detect papilledema and field cuts associated with focal brain lesions. Ocular motor abnormalities might suggest involvement of the brainstem or floor of the third ventricle. Intrinsic abnormalities such as cataracts, glaucoma, or corneal opacities may indicate the etiology of seizures.
Visceral Examination
Visceral examination should never be neglected and should include a particularly careful cardiovascular examination. The presence of heart arrhythmias or murmurs can suggest syncopal rather than epileptic attacks. Electrocardiographic recording is indicated in selected cases, and measurement of the PR interval should then be performed. Measurement of blood pressure, although often neglected in children, may be the only way of attributing seizures or status epilepticus to arterial hypertension.6
Brief Assessment of Cognitive, Social, and Behavioral Functioning
An opinion about the overall level of the patient’s functioning in these areas is formed during examination and questioning. It is useful to assess systematically, although informally and rapidly, the more important components of the patient’s mental state. The possibility of latent anxiety or depression, even psychosis, should be kept in mind. The level of attention and hyperkinesis is important to judge, as is the general fund of knowledge. The patient’s overall behavior and manner of relating to the physician and the attributes of the patient’s spouse or family are all very important in terms of diagnosis and therapeutic orientation and should be carefully recorded. They may be of considerable value in planning treatment and in assessing the effects of intervention. A more formal neuropsychologic evaluation is not necessary in most children if school performance and familial behavior are not affected. When there is suspicion of change or deterioration, it is important that a precise baseline be established to allow later comparisons.
Summary and Conclusions
Clinical diagnosis is an intellectual process whereby all available sources of information, from the purely clinical to the highly technical, are integrated with a view to arrive at a meaningful conclusion.1
In all fields of medicine, history and physical examination form the essential bases of diagnosis, even though additional information might be required from other sources, such as neurophysiologic and imaging studies and biochemical or other laboratory tests. Such additional information should not be requested in either a predetermined or a haphazard manner, but according to a hypothesis founded on clinical grounds. In this way, time is saved and the costs of investigation—not only in terms of money but also of inconvenience and possible suffering for patients and their families—can be considerably reduced while results are improved.
The principles that apply in other fields of medicine are relevant to an even greater degree in epilepsy and other paroxysmal disorders; history taking is by far the most important step in the diagnosis of paroxysmal disorders. Several series give figures of 20% to 30% for false diagnoses of epilepsy.12 This represents a considerable burden of unnecessary suffering, caused above all by less-than-optimal history taking.
References
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12. Metrick HE, Ritter FS, Gates JR, et al. Nonepileptic events in childhood. Epilepsia. 1991;32:322–328.
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17. Tinuper P, Plazzi G, Provini F, et al. Facial asymmetry in partial epilepsies. Epilepsia. 1992;33:1097–1100.
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