History and Examination

HISTORY AND EXAMINATION

Maureen R. Nelson, Michael A. Alexander, and Gabriella E. Molnar†

The physiatric history and examination of a child require a blend of medical diagnostic skills to establish or confirm the diagnosis as well as knowledge of child development and behavior to evaluate functional assets and challenges for the intervention phase of rehabilitation.

SETTING THE TONE

To ensure the best cooperation, especially in the preschool age, the environment should be child-friendly. Exposure to crying and upset children should be avoided in the waiting room or other areas. Families will do better if someone else can take care of the child’s siblings rather than bring them to the appointment so that parents can focus on the interview without distraction. The examination room may have a small table and chair with an assortment of toys for children of different ages to make them comfortable and relaxed. The examiner’s attire also influences the child. Many times a good rule is to “lose the white coat,” unless it has a pocket full of toys. The child is not impressed by the coat and may be intimidated by past medical visits. A child-oriented décor such as pictures of cartoon characters or animals on the wall, small toys, and decals on instruments helps to create a playful atmosphere and alleviate the child’s fears.

Start the visit by introducing yourself, including telling the patient and parents something about yourself, and what will happen during the visit, and how long it will last. Ask the parents to tell you why they came and what specific questions they have for you.

Concerns stated by the referral source should be shared with the parents. Many parents are unsure about what information the visit can provide. This is the opportunity to explain what pediatric rehabilitation is, its focus on function, and what it can offer the child and family. The examiner should also explain that it is part of the examination to watch the child so that the parents will not feel offended by the examiner’s wandering gaze. Because observation of spontaneous behavior is one of the most informative aspects of evaluating youngsters with a disability, examination begins from the moment the child is in the physician’s view. Questions about history and illnesses should be asked in simple terms so that the family can understand them and provide proper information. It is also important to have someone clarify insurance coverage and whether additional tests or treatment can be performed on the same day or must await approval.

HISTORY

PRENATAL AND PERINATAL HISTORY

The prenatal and perinatal history includes the preconceptual period and the parents’ ages and health before and since the birth of the child. Maternal factors during gestation may lead to fetal malformations. Examples of these associations include febrile illnesses (1) anticonvulsants (2) with spina bifida; maternal diabetes with caudal regression syndrome and sacral agenesis; and rubella, thalidomide, or fetal alcohol syndromes. Weak or eventually lost fetal movements may be the earliest sign of a motor disability of prenatal origin. Prenatal care, unusual weight gain or loss, hypertension, or any other gestational problems should be explored. Mode and duration of delivery, use of anesthesia, induction, intrapartum complications, and expected and actual date of birth should be noted. Any history of previous pregnancies, deliveries, and fetal loss is significant. Prenatal cerebral damage is increased in infants of mothers with previous spontaneous abortions (3). A detailed neonatal history is essential, including birth weight, Apgar scores, onset and success of breastfeeding, as well as the infant’s age at discharge. Weak lip seal and sucking force and inadequate feeding may be preliminary signs of oral motor dysfunction. If care in the neonatal intensive care unit (NICU) was required, what were the specifics of that, including medications and ventilator support? Neonatal seizures may signal pre- or perinatal brain damage. Prematurity, particularly very low birth weight, is a frequent cause of cerebral palsy (2). Large birth weight may lead to intrapartum trauma, brachial plexus palsy, or, on extremely rare occasions, spinal cord injury, particularly with breech or other fetal malposition. When extended hospitalization was required, one should note the infant’s age, weight, and condition on discharge, including means of feeding and need for ventilatory or other supportive measures at home, since these may predict subsequent, persistent, or recurrent problems.

DEVELOPMENTAL HISTORY

The developmental history should cover all major aspects of function and behavior. For details of developmental milestones and testing, refer to Chapter 2. This discussion presents only general guidelines for the purpose of diagnostic interpretations. Discrepancies between different areas of functioning provide clues about the nature of medical diagnosis and developmental disability.

Delayed accomplishments, primarily in motor function, suggest a neuromuscular deficit. One of the earliest signs that parents report is a lack of spontaneous movements when the infant is held or placed in the crib. They may add that the baby feels limp or stiff, suggesting either hypotonia or spasticity. In all cases of motor dysfunction, it is important to clarify whether the dysfunction was a steady, continuing delay from an early age, suggesting a static disease, or an arrest or regression noted at a particular point. However, slow deterioration due to progressive neurologic disease may be masked for a time by the relatively fast pace of early motor development. Developmental history and subsequent assessment must take into consideration the interactive effect of coexistent deficits. Slow development in personal and adaptive tasks that require both motor and cognitive abilities may be related to impairment in either area. A significant cognitive dysfunction by itself may delay gross and fine motor development (4). This also frequently exacerbates the functional consequences of a neuromuscular disability and may create the impression that the motor deficit is more severe than it actually is.

A history of delay in communication development raises several differential diagnostic possibilities: (a) true language dysfunction affecting receptive or expressive domains or both, (b) oral motor dysfunction interfering with speech production, and (c) significant hearing loss. In a child with motor disability, language dysfunction may result from diffuse or focal cerebral lesions, such as head injury or cerebral palsy, particularly when cognitive function is also affected.

The ability to follow simple and, later, complex commands indicates preserved receptive language even in the absence of verbalization. Parents report a variety of responses, such as smiling, cooing, crying, pointing, or vocalization with inflection as a substitute for speech. Oral motor dysfunction is also associated with cerebral palsy, most often with spastic quadriparesis or dyskinetic disorders due to suprabulbar or pseudobulbar palsy. Bulbar palsy in medullary involvement affects speech production, for example, in spinal muscular atrophy or spina bifida with syringobulbia. There is a close association between anatomic structures and neurologic control for speech and oral feeding. Concurrent oral motor dysfunction with feeding difficulties is an additional sign of bulbar or pseudobulbar pathology and confirms the suspicion of speech production deficit. In such cases, history of early feeding is most relevant. For example, was there a good lip seal and strong suction on breastfeeding? When bottle-fed, the infant can handle 4 ounces in about 10 minutes, and feedings every 3 to 4 hours are generally adequate. The need for longer and more frequent feeding to maintain weight gain, especially during the first few months; coughing; nasal regurgitation of liquids; and then later difficulty with drinking from a cup; and difficulty with introduction of solid food due to chewing problems are early symptoms of oral motor dysfunction and a possible subsequent deficit in speech production. Augmentative communication training should be initiated early in such cases.

Hearing is an essential factor for speech development. Early cooing and babbling are innate characteristics of infants and involve the same vocal components, regardless of the language spoken in their environment. Infants with hearing loss start to fall behind after 6 to 8 months of age when learning of auditory-dependent vocalization begins. Parents may notice a decrease even in spontaneous babbling at that age. All neonates and infants at high risk for developmental disability or recurrent ear infections should have an initial and, if warranted, repeat hearing evaluations. Correction of a hearing deficit should be initiated as soon as possible after it is detected (5).

For infants and young children, the history is obtained from parents or caretakers. While gathering information from one person about another, the examiner gains an understanding of both and establishes rapport with parents and child. Early-school-age children can provide some information about themselves and should be encouraged to do so. Preadolescents and particularly adolescents generally prefer to give an account of their problems and achievements. Adolescents may wish to have privacy without the parent present, at least for part of the visit.

GENERAL HEALTH HISTORY

The examiner should determine whether the patient is an essentially well child with impairment or a sick child who has been hospitalized several times. In the latter case, one should explore in detail the frequency, reasons, tests, and treatments. Even if one has access to records, the parents should be asked to tell the child’s history in their own words. Their account provides an insight into their knowledge and participation in the child’s care. One should ask how many visits they make to medical centers and therapists and how much time is spent in transit for the child’s care.

History of allergies to medications or other substances should be noted. An early history of allergies to different and often inconsistent formulas may indicate that the child in fact had feeding difficulties that were attributed to allergy. Multiple exposures to latex and any signs of allergy should be determined, particularly in spina bifida or after repeated surgeries. Any medications that the child takes regularly, including dietary supplements and homeopathic or alternative medications or aerosols, should be recorded with dosage and schedule.

The risk and incidence of seizures are higher in static and progressive diseases of the central nervous system (CNS). Overt or suspicious signs, type and frequency of seizures, anticonvulsants, and their effectiveness and possible side effects should be recorded.

Nutrition, with special consideration for the child’s disability, should be reviewed. Feeding difficulties or behavior problems may lead to inadequate consumption of calories and essential nutrients. Dietary intake may be lower than required for the increased energy expenditure on physical activities in children with motor disability. In contrast, caloric intake may be excessive when physical activity level is restricted and lead to obesity, commonly in wheelchair users with spina bifida (6) or muscular dystrophy, and after transition from walking with assistive devices to mobility via wheelchair. In children with caloric restriction, there is often a need for supplemental vitamins, protein, and calcium (7). Dietary information and guidance are fundamental for regulation of neurogenic bowel incontinence. Cultural and family eating patterns should be taken into consideration. Injuries, burns, fractures, and spinal cord and head trauma are followed by a period of a catabolic state. Monitoring of weight, nutrition, and fluid intake is essential during inpatient rehabilitation for major injuries, and after return to home. Caloric requirements for children are calculated from age-appropriate standards, which take into consideration growth. In children with motor disability, upward or downward adjustment in height and weight may be needed, depending on their level of physical activity and individual growth trend. Specific recommendations are available for children with spina bifida to avoid obesity (8,9). Obesity is a risk factor for secondary issues from the primary diagnosis, including pain and fatigue, as well as a cardiovascular risk and social challenge (10).

History of respiratory complications, past or present, should be explored in children with pertinent diagnoses. Central ventilatory dysfunction (CVD) is a potential severe complication of Arnold–Chiari malformation in spina bifida (11). Syringobulbia may cause similar symptoms. Nightmares, insomnia, and night sweating are complaints associated with hypercapnia, and may be reported in advanced stages of muscular dystrophy. Hypercapnia and sleep apnea may occur in diseases of the CNS. Intercostal muscle paralysis in high thoracic paraplegia with spinal cord injury or spina bifida, spinal muscular atrophy, or advanced muscle diseases leads to inefficient pulmonary ventilation and handling of secretions. With severe spastic or dyskinetic cerebral palsy, the respiratory musculature may lack coordination. Such children are prone to recurrent bouts of pulmonary infections. Coexistent feeding difficulties with minor aspirations or restrictive pulmonary disease due to spinal deformities may add to pulmonary dysfunction.

Restricted mobility of the spine and thoracic cage may be present in ankylosing spondylitis or severe systemic-onset juvenile rheumatoid arthritis/juvenile idiopathic arthritis (JIA). Detailed information about home management and use and frequency of equipment must be included in the history. Exercise dyspnea may be a sign of pulmonary compromise or deconditioning with the high energy cost of physical activities in children with some motor disabilities. Scoliosis may exacerbate respiratory disease in some of these children. Cardiac decompensation with right-sided failure, a potential complication of pulmonary dysfunction, is more likely to occur in older children or young adults with the previously mentioned disabilities. Myopathic conduction defects and arrhythmias are often symptom-free in the absence of heart failure. Consultation with pulmonary and/or cardiology specialists should be arranged when history reveals suspicious symptoms.

Visual and hearing impairments are more frequent in those with childhood disabilities. Inquiry about these aspects of function is a part of the history. Regular hearing and visual assessments are required. Prenatal infections, anoxic or infectious encephalopathy, metabolic diseases, meningitis, hydrocephalus, and head injury warrant exploration of visual and auditory function. Like all children, youngsters with disabilities are prone to a variety of childhood illnesses. In some cases, however, acute symptoms and febrile illnesses may be directly related to complications of a specific disability. Vomiting, headache, irritability, or lethargy may be prodromal signs of decompensating hydrocephalus in spina bifida, cerebral palsy (2), or an intercurrent unrelated illness. Recurrent headaches are also a manifestation of autonomic dysreflexia in spinal cord injury. Fever may represent central hyperpyrexia in severe head injury or hyperthermia due to pseudomotor paralysis in high thoracic spinal cord injury. However, these diagnoses can be made only after other causes of fever have been excluded. In those with a neurogenic bladder, urinary tract infection should always be investigated as a possible cause of febrile illness. A history of the usual pattern of the amount and frequency of voiding is essential in neurogenic bladder dysfunction. Systematic daily recording is a guide for bladder training. Fluid intake, in accordance with pediatric norms, needs to be monitored at home, and records of both bladder and bowel schedules should be available on the medical visit.

Immunization history is part of all pediatric visits. The child in good health may not have received the recommended vaccinations because of excessive concern on the part of the family or pediatrician or the child may have been ill when scheduled for immunization.

HISTORY OF BEHAVIOR

The examiner should ask about the child’s behavior in terms of temperament and personality. The parents may state that the child was always a good baby, but this report may mean that the youngster never cried and slept more than expected for his or her age. In other cases, parents may report excessive crying and restlessness both while the child is awake and asleep. Some children may show excessive mood swings from lethargy to hyperactivity, whereas others are even-tempered and react appropriately. One should ask the parents whether the child is friendly, outgoing, and sociable, or shy and withdrawn, particularly in group situations. Parental guidance may be needed to encourage interactive behavior by the child. Compliance or problems with obedience, daily activity level, attention span, sleeping and eating habits, and special interests and dislikes are revealing information. Separation from the parents may be a problem for some children with disability. The parents may be uncomfortable to leave the child with relatives or other caretakers. In this context, it is important to point out the need and possible approaches to foster the child’s independence.

EDUCATIONAL AND SOCIAL HISTORY

Very young children may be enrolled in an early intervention program, either home- or center-based. Frequency, length of sessions, components of training, the child’s tolerance and cooperation in the program, and its effectiveness, as perceived by the parents, should be clarified. The same applies when the slightly older child attends a preschool program. In school-age children, information about the type of class—mainstream, integrated, or special education—is important. Academic expectations are different in each of these educational pathways and should be taken into consideration when report card grades are interpreted. Individualized Education Program (IEP) meetings and environmental accommodations are other pertinent details. The child may have special interests and strengths that should be further developed or difficulties in certain subjects, which may require additional help and adjustment of the IEP. Review of educational status is a consistent part of follow-up visits, and assistance should be offered when problems arise, including cognitive and neuropsychological testing.

Opportunities to meet and play with other children in addition to school or home contacts, visits and sleepovers with friends, and participation in various recreational activities are formative experiences that prepare all youngsters for social functioning and adulthood. Asking the parents to describe the child’s daily schedule, including regular and occasional activities on weekdays and weekends, yields a valuable insight into these aspects of the entire family’s lifestyle. Time spent in school, therapy, homework, play, and leisure activities with family members, friends, or alone should be noted. Housing, employment of the parents, siblings and their ages, and social support of the family provide further understanding of the physical and social environment. Some families with a disabled child experience social isolation. Information about or referral to community resources may be helpful for many families. This may include recreational and sports training and teams, theater, music, and social outings.

FAMILY HISTORY

In motor or other developmental disabilities, a detailed family history must be obtained to explore the possibility of a genetic disease. Health and function of the parents, siblings, and other family members on the maternal and paternal sides should be explored through several preceding generations. One should ask specifically whether there are other children in the family with developmental delay or adults with known motor disability, limb deficiency, or other malformations. Historical information is at times incomplete until further questioning brings to light additional facts. Family albums and pictures of relatives may be helpful to detect dysmorphic facial or other features. Consanguinity is an increased risk for genetic disease, especially diseases with an autosomal recessive inheritance pattern. In some autosomal-dominant conditions, mild variants of a disease may be missed until a thorough investigation of suspected family members is carried out, including congenital myotonic dystrophy and facioscapulohumeral dystrophy. In X-linked conditions, affected males typically have a maternal familial history. Diseases with multifactorial inheritance, such as spina bifida, are complex, and may or may not have a known familial history (2,8). Referral for genetic workup is necessary whenever there is the possibility of a genetic condition. Pregnant mothers of affected children should be referred for genetic counseling. Prenatal diagnostic testing is available.

STUDIES

Radiographic imaging is useful for a variety of children. For those with bone abnormalities, plain films will be helpful. For those with brain involvement, computed tomography (CT) and MRI may add to the diagnostic specificity. Electrodiagnostic testing is helpful in those with brachial plexus palsy or other nerve or muscle lesions. Electrodiagnosis is used less as genetic evaluations become much more specific for muscle and nerve diseases. Chromosomal and DNA testing are available for many diagnoses. Prenatal chromosomal testing, fetal DNA from the maternal bloodstream, newborn screening, and carrier screening are all available, with advances in techniques continuing.

EXAMINATION

Only gold members can continue reading. Log In or Register to continue