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:

The order in which disease findings develop and the precise time of onset of symptoms and signs may be critical factors in the process of accurate diagnosis. The presence of repeated episodes or associated phenomena should be determined. Detailed questions should be asked of the caregivers and child to elucidate the facts.

Sequelae of traumatic events develop over a period of minutes to a day (Figure 1-1). Although the clinical manifestations of cerebrovascular events normally develop over minutes to hours, the underlying process may be long-standing; therefore, acute onset of vascular symptoms may be the result of a subacute or chronic process. Infectious processes, electrolyte imbalances, and toxic processes (endogenous or exogenous) usually reach their zenith within a day to several days. Degenerative diseases, inborn metabolic disorders, and neoplastic conditions usually progress insidiously over weeks or months.

Fig. 1-1 Patterns of onset and courses of neurologic conditions.

The arrow in each graph signifies the point of clinical recognition.

(Adapted from Baker AB. Outline of Clinical Neurology. Dubuque, Iowa: William C Brown, 1958.)

Based on the chronologic aspects of the history, the clinician should ask questions related to the most likely pathologic processes. For example, when the history suggests a subacute process, the clinician should probe for characteristics associated with an infectious process (e.g., exposure to a known infectious source, recent infection, vomiting, diarrhea, fever) or with specific toxins (e.g., over-the-counter medications, prescribed medications, insecticides, other toxins found around the home).

Evaluation of whether a condition is focal or generalized is embedded in the neurologic diagnostic process. A focal neurologic lesion is not necessarily one that causes focal manifestations but is one that can be related to dysfunction in a circumscribed neuroanatomic location. For example, a focal lesion in the brainstem may cause ipsilateral cranial nerve and contralateral corticospinal tract involvement. If the difficulties are not focal within this definition, they usually result from a generalized process or from several lesions (i.e., multifocal). Neoplastic and vascular diseases frequently result in focal processes; occasionally, trauma results in such abnormalities. Generalized or multifocal conditions are usually associated with degenerative, congenital, metabolic, or toxic abnormalities.

The clinician must always attempt to determine whether the condition is progressive or static. A detailed developmental history is often the best means of substantiating whether a condition is progressive or static. The history should include a log of motor milestones and should contain specific information regarding motor, language, and adaptive-social behavior. Questions should be crafted to obtain evidence that the child is no longer capable of motor or intellectual activities that were previously performed. This information is essential to the diagnosis of progressive disease, which is usually preceded by a period of normal development. Occasionally, previous formal neurologic and psychometric evaluations may be available. Documentation may be forthcoming from family photographs, family video tapes, or baby books. In progressive conditions, documentation of increasing loss of normal function or an increase in any symptoms, including pain, is essential. Conditions that are static or improve spontaneously are usually the result of traumatic or anoxic episodes, congenital abnormalities, acute toxicity, or resolving infection.

The Denver Developmental Screening Test (DDST) [Frankenburg and Dodds, 1967], the revised form [Frankenburg et al., 1981], the Denver II screening test (Figure 1-2) [Frankenburg et al., 1992], and other developmental surveys allow a more precise approach to the determination of whether gains or losses of skills have occurred and aid in the decision about whether a process is progressive or static.

Fig. 1-2 Denver Developmental Screening Test (Denver II) directions.

(From Frankenburg WK, Dodds JB, Archer P, et al. The Denver II: a major revision and restandardization of the Denver Developmental Screening Test. Pediatrics 1992;89:91.)

The DDST has undergone major revision and restandardization and is available as the Denver Developmental Screening Test II (DDST II, or Denver II). The DDST II has replaced the older versions of the DDST. Standardization testing for the Denver II included evaluating each item to determine if significant differences among different subpopulations existed. These subpopulations included gender, ethnic group (i.e., black, white, or Hispanic), maternal education (i.e., less than 12 grades completed or more than 12 grades completed), and place of residence (i.e., rural, semirural, or urban).

The Denver II differs from the DDST in the selected items, test form, and interpretation. The total number of items has been increased from 105 to 125, and items that were judged as difficult to administer or interpret have been modified or eliminated. Most of the new items are in the language section. The technical manual should be consulted if a delay is identified because it may be caused by sociocultural differences. The DDST II has been modified for use in different language and cultural norms [Lejarraga et al., 2002; Lim et al., 1994, 1996].

The test form for the Denver II resembles the DDST in the vertical placement of items. Key Denver items have been eliminated so that the age scale coincides with the American Academy of Pediatrics’ suggested schedule for health maintenance examinations to facilitate use of the Denver II during these visits. The norms for the distribution bars are in accordance with the new standardization data. A valuable addition to the front of the form is a checklist for documentation of the child’s behavior during testing.

Scoring and interpretation changes have also been made. If a child is able to perform an item depicted to the right of the age line, the performance is designated as advanced. If a child fails or refuses an item that is depicted completely to the right of the age line, the score for the item is deemed normal. If the child passes, fails, or refuses an item on which the age line falls between the 25th and 75th percentile lines, performance is designated as normal. If the child refuses or fails an item on which the age line falls on or between the 75th and 90th percentile lines, performance is designated as a caution. If the child is unable to pass an item depicted entirely to the left of the age line, performance is designated as a delay. Sufficient items should be administered to establish basal and ceiling levels in each sector. To screen only for developmental delays, only items located completely to the left of the child’s age line should be administered. Retesting is recommended after 1–3 months for performance scored as a caution. Retesting for one or more delays, as well as refusals, should be performed within 2 weeks.

It is essential that examiners, caregivers, and educational personnel recognize that the Denver II provides an evaluation of the child’s current developmental level and is not a predictor of the future rate of development or eventual maximum attainment. The test may be used for early identification of neurologic deficits [Hallioglu et al., 2001]. Abnormalities in more complex and abstract functioning may not be recognizable until a later age and will require more sophisticated testing vehicles. Alteration in the child’s biologic or environmental status may affect developmental rate and achievement, and should be investigated and taken into account in the evaluation if appropriate.

The clinician should ask specific questions regarding the age of attainment of developmental landmarks and should make every attempt to discern whether the child is delayed in many areas of development or has developed normally in some areas but not in others. Children who have normal motor development but also have hearing impairment may have delayed speech. However, the presence of neuromuscular disease may cause obvious retardation of motor development but may allow normal development of social and language skills.

Various developmental screening instruments are available and their uses can be summarized briefly (Table 1-1) [Aly et al., 2010]. These instruments are useful when utilized in appropriate situations.

A specific form may be used by the examiner as a guideline to the history-taking procedure (Figure 1-3). There are many systems for recording history and the subsequent examination. The form printed in this chapter may be modified to the specific needs of the patient and the clinician.

Fig. 1-3 General history form.

This can be used for obtaining the medical history, developmental history, and family history of children with neurologic problems.

(Courtesy of the Division of Pediatric Neurology, University of Minnesota Medical School.)

The question of hyperactivity is often at the core of the caregiver’s complaint. A rating scale may be completed by teachers to aid the clinician in diagnosis (Figure 1-4) [Connors, 1969]. The problem is discussed in more detail in Chapter 47. School behavior can also be assessed by caregivers, as shown in Box 1-1.

Fig. 1-4 Teacher questionnaire for behavioral assessment.

(Adapted from Conners CK. A teacher rating scale for use in drug studies with children. Am J Psychiatry 1967;126:884.)

Box 1-1 Parents/Caretaker Questionnaire—School Behavioral Assessment

Many children are involved in some planned day activity, day care, or school program after the age of 2 or 3 years. A questionnaire, as in Figure 1-5, can be devised that will allow supervisory personnel to record intellectual, motor, and emotional characteristics.

Fig. 1-5 School information form.

This can be used to obtain the child’s school history from school, day care center, or day activity center.

(Courtesy of the Division of Pediatric Neurology, University of Minnesota Medical School.)

It is essential that an adequate family history be recorded. Ages of siblings (including those who have died and those aborted), parents, grandparents, uncles, and aunts should be available. It is particularly helpful to gain health history details of deceased siblings and relatives, because familial conditions that might otherwise go undiscovered are often revealed.

Questions concerning neurologic diseases initially should be specific; then more generalized questions should be asked because caregivers may not understand the more specific approach. The presence of epilepsy, cerebral palsy, deafness, mental retardation, movement disorders, blindness, ataxia, weakness, or progressive intellectual and motor deterioration must be determined. Less sophisticated names, such as fainting spells, nervous breakdowns, strokes, and palsies, may strike a responsive chord. It is imperative that the clinician ask if any family members suffer from the same problems that affect the patient.

Autosomal-dominant traits may be present in successive generations, although the degree of expressivity may vary. Autosomal-recessive traits often do not manifest in successive generations but may be present in siblings. Consanguinity must be considered when autosomal-recessive disease is part of the differential diagnosis. X-linked recessive conditions are manifest in male siblings, male first cousins, and maternal uncles. Careful questioning of the mother, if possible, is highly desirable. Although mitochondrial diseases may be inherited through transmission of maternal DNA, paternal inheritance patterns are also possible [Schwartz and Vissing, 2003]. If a genetic condition is suspected, it is wise to examine siblings, parents, and other family members to augment the history.

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