Chapter 1 General Aspects of the Patient’s Neurologic History
There is no substitute for an accurate and thorough history. The critical role of obtaining the child’s neurologic history directly from the patient or a member of the patient’s family often is pivotal in developing a correct diagnosis. The history-taking procedure should elicit specific information and be directed so as to exclude or ensure inclusion of pertinent conditions in the differential diagnosis of the child’s disease. The information obtained during the history-taking session is crucial during the subsequent analysis and synthesis of all patient data. The clinician should be involved in a dynamic diagnostic quest throughout the interview and during the review of previous medical and other relevant records. A systematic approach to the medical history is mandatory; however, the clinician must be alert to significant clues that may prove essential to the diagnostic process. The history-taking session is not a random gathering operation with data to be subsequently sorted; rather, the data should be actively synthesized as they are collected and then used to alter the direction and the varying depth of the questioning process.
The process of identifying a differential diagnosis should begin at the outset of questioning. In a broad sense, certain umbrella categories encompass virtually all etiologic mechanisms that underlie the differential diagnosis. Inevitably, there is some overlap (e.g., vascular occlusion in MELAS, a metabolic condition; mass effect of a brain abscess, an infectious condition). The fundamental pathologic processes, simplistically identified, are infectious, traumatic, metabolic, endocrinologic, toxic (exogenous and endogenous), congenital structural malformations, vascular, neoplastic, degenerative (usually of unknown or obscure cause), and idiopathic. Each of these categories has many subsets with which the clinician who evaluates neurologic problems in children must be familiar. The likelihood that one of the broad umbrella classifications applies to the problem of the pediatric patient must be judged while the history is obtained, during which time some categories will gain in probability and some will become increasingly remote. The information gathered during the history-taking session may be vital in the process of literature and database searches that may subsequently prove necessary. The precise role of genetic determination (i.e., gene product formation and use) in all familial pathologic processes is exceedingly important particularly now that the human genome has been mapped [Ali-Khan et al., 2009] and chromosomal microarray studies are available [Paciorkowsky and Fang, 2010]. Personalized genomic characterization will likely be utilized frequently in the immediate future [Guttmacher et al., 2010]. Results of newborn screening tests may be known by the caretakers and provide pertinent information [Duffner et al., 2009].
Most chronic neurologic complaints are complex, and the neurologist’s involvement is often preceded by involvement of other professionals and agencies. If the parents are the primary caregivers, both the mother and father should be present if possible. When grandparents or other caregivers are involved in attending to the child, they should be present.
Review of past medical and developmental histories is an essential component of a good history-taking session. Information should be sought from records and from questioning the mother about health problems, including infertility, and diseases that occurred during pregnancy. With increasing data accumulating regarding adverse pediatric outcomes with assisted reproductive technologies [Jackson et al., 2004], it is important to ask whether conception was achieved naturally and, if not, what method of assisted reproductive technology was employed. Gestational information about infection, radiation, acute trauma, chronic illnesses such as diabetes mellitus, and toxins, including illicit drugs, tobacco, and alcohol, may prove invaluable. Further information about medications that the mother received, including over-the-counter preparations, should be probed.
It is important to record the expected and actual dates of delivery. Review of birth records, including prenatal and delivery records of the mother, may reveal information concerning difficulties with pregnancy and problems in the perinatal period that are not known or remembered by the parents. Details of the intrapartum period, including associated hypertension, drugs administered, length of stages of delivery, occurrence of chorioamnionitis, and if possible, information concerning placental pathology and the general appearance of the newborn at time of birth, may prove enlightening.
It is important to determine the status of the newborn infant. Information should be sought concerning Apgar scores, depression of activity, neonatal seizures, presence of hypotonia, and whether tracheal intubation and ventilatory support were needed. The presence and nature of neonatal difficulties should be ascertained.
The patient’s caregivers should be questioned carefully about the nature and results of previously performed tests, including electrodiagnostic tests, brain-imaging studies, biochemical studies (e.g., quantitative assays of amino acids, organic acids, lactic acid, and lysosomal enzymes), biopsies, and chromosomal/gene studies (including chromosomal microarray studies). The caregivers should also be asked about whether medication or other treatment has been administered or advised and about the result of such therapies.
The primary problem of the child is embodied in the chief complaint. A combination of chief complaints may prove more specific and narrows the diagnostic spectrum (e.g., a 6-month-old male with delayed development and cataracts). The differential diagnosis is based initially on the chief complaint, which should therefore be documented as accurately as possible. The caregiver’s or patient’s description should be quoted verbatim, when possible. The period of onset and whether the symptoms began acutely or gradually should be carefully determined. The clinician should not substitute medical terminology in place of the terms used by the caregivers or patient when recording the chief complaint. Medical terms must be explained fully so that responses are complete and pertinent.
Notwithstanding these goals, the actual complaint may be imprecisely described because the caregivers’ memories, language, or observations may be inaccurate and because the child may be unable to provide detailed information. The clinician should make every attempt to question the child directly. Even a preschool-aged child may provide helpful information. Sometimes, adults who participate in the session may not be objective or capable of accuracy. Most commonly, however, the observations and concerns of the caregiver should be given every consideration and essence of credibility. It is extremely unwise to disregard these components of the history when comments are somewhat unusual or incompatible with the clinician’s diagnostic bias.
The features associated with the chief complaint compose the history of the present illness. The questioning should provide an incisive interaction between caregiver (or patient) and clinician, and should be directed at formulating the differential diagnosis. This portion of the communication process requires skill and perseverance. An all-inclusive neurologic history is impossible; however, that which makes the history meaningful and complete may be the seemingly trivial information that is not readily recalled or divulged. The accomplished clinician can uncover this information by directed and specific inquiry.
The chief complaint should trigger the process of differential diagnosis in the examiner’s thinking, which begins as a listing of the disease conditions that could cause the chief complaint at the child’s age. The following four specific questions should be answered, if possible, in taking the history of the current illness:
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