This chapter reviews the aims and methods of the physiatric history and physical examination of the pediatric patient, focusing on the history, physical examination, and functional status. In addition to providing an overview, the goal of the chapter is to help an experienced clinician make important distinctions in clinical care of this patient population.

History and physical examination in physiatry aim to not only make medical diagnoses but also to assess functional status. Additional objectives are to determine the goals, hopes, and expectations of the patient and family and to begin to develop rapport and a working relationship with them. In pediatric physical medicine and rehabilitation, there are additional dimensions of child and adolescent development and often complicated emotions of parents facing special needs or long-term disability in their children. Families often have varied levels of understanding regarding the young person whose life is going to be different from their peers.

An accurate diagnosis can make a great difference in the effectiveness of management and the prognosis of many disabling conditions. Our patients may come to us with a well-defined problem and cause, or it may be up to us to pick up on an unsuspected or missed diagnosis. Although the physiatric focus is on the musculoskeletal and neurologic systems, general health and well-being are critical to review. Therefore, a thorough general physical examination is also essential. The effect of physically disabling conditions on other organ systems should be elucidated; this often requires screening procedures and additional specialty medical care to avoid complications that may limit function. Common examples include cardiac and pulmonary dysfunction; nutritional status; metabolic, hepatic, and renal conditions; and skin integrity.

The emotional impact and understanding of a pediatric disability by the family should be addressed.¹ Does a parent view the child as sick, dying, or in need of a cure? Is the condition an embarrassment or a reflection of their inadequacy or failure in their eyes? Is the family overwhelmed with guilt, fear, or shame or concerned with how we view them and how they may be judged as parents? Are they comfortable with their child openly participating in their community as they are able? Do they have the practical and emotional support they will need not only to provide care but also to facilitate an optimal level of function and quality of life for themselves and their child as a whole family? What do children or adolescents understand about themselves and their condition?

In the International Classification of Functioning (ICF) framework, this approach addresses the questions of what is wrong on a pathophysiologic level (impairment or disease), what is lacking on a functional level, what are the effects on fulfillment of appropriate roles in community life (activities and participation), and what environmental factors must be considered.²

The pediatric physiatric history may be organized in many ways (Table 65–1). Every encounter requires a chief complaint in the patient or family’s own words. The practitioner should ask about the most important concern that the patient and family can address in the visit. Note whether it is the parent’s or patient’s own concern and whether they state that another family member or a therapist is concerned. Past medical history ideally may be gleaned from a chart review and verified. It is usually best to summarize and review what is already known. Patients and families often react positively when their story has been reviewed ahead of time, but it is still important to be open to corrections or clarifications they may have. Significant errors are perpetuated through copying and pasting or rewriting in either paper-based or electronic systems. Also, the patient’s perspective may be very different from what you expect.

A thorough review of the pregnancy and delivery is critical, including the estimated gestation and birth measurements and whether there was any need for resuscitation or extended neonatal inpatient care. In cases where information about maternal substance abuse is not volunteered, which is a common occurrence, inquire sensitively, but consider omitting repeated inquiries if it has been asked already. There is a great tendency for families to believe that proper prenatal care and behavior can prevent all birth defects, and although this is not the case, parental guilt and self-questioning about blame for a baby’s problems can be emotionally overwhelming and inadvertently reinforced.³ Also, sometimes genetic or other diagnosable conditions are erroneously attributed to these kinds of prenatal factors. History of illnesses, injuries, accidents, and hospital stays should be noted.

It can help to know when the parent first thought anything was wrong; some knew prenatally; others may have been concerned but were reassured that nothing was wrong. Developmental milestone information should be reviewed; often the timeline regarding gross motor events is remembered, such as first rolling over, sitting alone, standing, and walking, but also talking (Table 65–2).⁴

If there are any language delays, the method of hearing testing should be determined (i.e., was a formal hearing examination using headphones or a booth used) (Fig. 65–1).

A parent who thinks their child cannot hear is usually right, although a parent who thinks their child hears normally may not be correct. It is important to remember that bright children with deafness may readily pick up on small visual cues and turn to them as if they can hear. The clinician should ask about handedness, which is not usually well established until preschool age, although it generally should be by kindergarten to first grade. Asking about what the child “can” do may be misleading because it may be done only during therapy or irregularly. Inquiries about toilet training are important. Inspection of the child’s actual undergarments may help determine whether the history is accurate. A snapshot of the child’s function in real life is essential to meeting needs for equipment and other care. With older children, the school history must be inquired about with precision. Schools may make a variety of arrangements; there are services such as Title XX reading programs and speech therapy involvement that are provided outside the special education system, and special education services may be provided in regular schools and classrooms.⁵ Consultative help may be provided for behavior, low vision, or deafness, as well as for adaptive physical education. Homebound services are provided through a school district for serious health concerns and are distinct from homeschooling, where the parents choose to provide the child’s education. When only the children with disabilities in a family are homeschooled, it raises concern that working with the local school district may have been unsatisfactory or that the family views the child with a disability as needing a more protected environment with limited expectations. Identification of community resources for recreation is important.

There are some special considerations in obtaining additional review of systems/review of symptoms beyond developmental and functional history. Frequent illness or susceptibility to infections is important because it may signal either immune deficiency or chronic silent pulmonary compromise.⁶ Medication use or nonuse should be tracked as accurately as possible, and a running list kept of medications that have been tried, with results, should be elicited. True allergy may be distinguished from other adverse reactions/intolerances, but both should be noted. Family perception and medical credibility of these reactions are both important. Substance abuse or access to prescription and nonprescribed drugs needs to be considered at any age.⁷

Feeding history can offer clues to oral motor and swallowing or oral sensory aversion issues or may indicate more serious gastritis or gastric reflux disease. In cases where a child appears to be receiving insufficient nutrition, sensitivity to the emotional impact of this and the defensiveness or even dismissiveness that may result is critical. It is essential to acknowledge the difficulty of trying to nourish a child with sensory or motor difficulties and affirm that the difficulty is not the result of any fault of parenting skill or lack of attentiveness when this is not the case.⁸

Additional details of bowel and bladder function beyond continence are important. Inquire specifically about unusual ruddy or tea-colored urine as an indication of myoglobinuria if muscle disease is under any consideration. Other important factors to consider include stiffness, either just in the mornings or after inactivity, versus continuous; subjective weakness and fatigue, either worsening over the course of a day or over time or constant; poor endurance; poor coordination or “clumsiness”; poor memory and learning difficulties; general difficulty with sustained attention versus lapses of attention or daydreaming.⁹

Behavioral complaints may occur at home or at school or both because demands and expectations may differ. These issues, and sleep disturbances in particular, can be the most troubling symptoms of any condition and yet may not be presented spontaneously. They may be minimized by families out of shame or embarrassment or, despite severe and evident parental fatigue, may not be considered as beyond the normal stresses of parenting.¹⁰

Pain may not be reported as such, and parents vary in their ability to interpret the cues of an older nonverbal child accurately. Deformity or muscle spasm that would likely cause pain on weight bearing, frequent stopping to rest when “tired,” especially for foot pain, or a less verbal child simply sitting down in the middle of walking longer distances can indicate that this is happening.¹¹

Family history is important to assess the risk and likely pattern of any possibly genetic condition as well as the risks of complications of some nongenetic conditions, for example, posttraumatic migraines, thrombosis, and attentional or behavioral problems.¹² Patterns of inheritance can be difficult to discern even if one can obtain information on multiple generations in a family. Obstacles include family members who are adopted rather than biologically related and conditions that are or were commonly misdiagnosed, such as “MS,” or vague, such as “had to wear leg braces” or “was crippled.” Ask about any family history of reactions to surgeries or anesthesia. One may solicit a great deal of information simply by asking, “Who else in the family has anything like this?” It may seem awkward to ask about consanguinity, but an accurate family history may be critical in identifying patterns of inheritance (e.g., an autosomal-recessive disease and possible pseudodominant inheritance). One can ask if there is any chance that the birth parents could be related in any way, such as being distant cousins, while reassuring that many people do not know about these connections beforehand and acknowledging that it may seem to be a strange question but that it can be helpful in diagnosis. It is usually worth the time to make a conventional pedigree drawing if it extends beyond the immediate family. Male-to-male transmission of a distinct trait is the only reliable indicator of autosomal-dominant disease; X-linked conditions have variable penetrance in females but cannot be transmitted by a male to a son. Mitochondrial inheritance, which is variable transmission only along maternal lines, is not the only way mitochondrial diseases are inherited. In fact, most mitochondrial diseases are autosomal recessive and encoded by nuclear DNA, a few are X-linked, and a very few are dominant. Some autosomal-dominant conditions worsen with succeeding generations, commonly due to increasing triplet repeat expansions. It is important to be sensitive in cases where more mildly affected parents and grandparents may not be aware of their condition, even when it may seem obvious to us as clinicians.

The physical examination begins with an assessment of vital signs and growth parameters.¹³ Normal limits for blood pressure increase with age, and charts are available (Fig. 65–2).

Tachycardia can reflect anxiety, pain, or cardiomyopathy. Respiratory distress must not be missed; a fast respiratory rate without distress can be overlooked but can signal illnesses or conditions such as lactic acidosis or salicylate toxicity. Microcephaly (a failure to grow or cessation of head growth) and macrocephaly (abnormal enlargement) are important clues to diagnosis. Special growth charts have been created for certain specific conditions, but the tracking of height, weight, and head growth trajectories over time is more important. One value well under the fifth percentile may not signal a problem, but failure to progress parallel to the curve or a decline from a higher point may be of more concern. Laboratory assessment of nutritional status may be useful and necessary more often than in the general population. Childhood obesity is often misperceived by families and should be addressed sensitively.¹⁴ Realistically, weight percentile or body mass index (BMI) will be a falsely high indicator of adiposity in a very muscular person and falsely low when the body fat percent is in the high forties or above.

The order of a general examination is not dramatically different for children with special needs than in general pediatrics. Usually, examination of the heart and lungs can be done first, then the abdomen, before proceeding to anything more uncomfortable. One may glean much information from observing the patterns of spontaneous movement, how the patient handles objects such as one’s stethoscope or their shoes, and whether they differentiate health care providers from familiar caregivers. Children with sensory defensiveness often better tolerate a firm, steady touch rather than tentative or light, rapid palpation. Showing the child how instruments may be used on oneself or a stuffed animal and letting the child feel the instrument on a “neutral” body part first may ease the assessment.

In addition to head circumference, the shape and fullness of any open fontanelles are important clues to identify (Fig. 65–3).

Normally, the anterior fontanelle closes by 12 to 18 months of age and the posterior fontanelle by 2 to 3 months. Synostosis may be palpable as a bony ridge along an expected suture line, and sometimes abnormalities such as a posttraumatic arachnoid cyst causing a growing fracture may be externally apparent.¹⁵ Resolving cephalohematomas in infants may feel like craters due to calcifications prior to complete resolution. Dysmorphic features can actually be measured as well as judged subjectively; for example, the top of a low-set ear is below a line through the axis of both eyes with excessive intercanthal distance.¹⁶ The presence of torticollis and plagiocephaly should be identified. Synophrys, maxillary hypoplasia (best noted from a lateral view), long philtrum, a thin upper lip, receding mandible, and any other asymmetry at rest or with activation of facial muscles (e.g., asymmetrical crying facies due to absence of the depressor anguli oris) are other findings that should be noted if present.

Inpatient pediatric rehabilitation patients ideally should have repeated daily physical examinations to assess breath and heart sounds, abdominal fullness, bowel sounds, and presence of limb edema. New respiratory signs of distress should be identified and addressed; these include tachypnea, grunting or nasal flaring, inspiratory stridor or nasotracheal sounds, rales or expiratory crackles or wheezes either low or high pitched, and limited chest expansion and air entry. Tachypnea with clear breath sounds might indicate lactic or other metabolic acidosis. In a heavier patient, percussion or even auscultation while doing “scratch” testing may be a better way to check for hepatomegaly.¹⁷

The skin and extremity examination includes assessment for clubbing, cyanosis, and edema but also entails much more depth on muscle bulk, tone, joints, and range of motion (ROM) (Fig. 65–4).

In general, the skin should be more closely assessed for trophic changes, nail infection or other abnormalities, stigmata of neurocutaneous conditions such as ash leaf or café-au-lait spots, general hygiene, pressure areas, normal and abnormal bruising patterns, petechiae, and purpura. Jaundice is differentiated from carotenemia by looking at scleral color, which is normal in the latter.¹⁸ Some bruises on the shins are normal for children who fall frequently; patterned or unusually located ones without corresponding history could signal nonaccidental trauma. In cases of family conflict, every bruise, no matter how minor or well explained, may be reported by an aggrieved party to agency hotlines, so objective documentation as well as noting the quality of parent-child interaction may be invaluable. Mongolian spots are persistent from examination to examination and should not be mistaken for bruises.

Children with osteogenesis imperfecta (OI) or thrombocytopenia may be mistakenly thought to be child abuse victims. OI variants may be present even in the absence of blue sclerae or dental issues (Fig. 65–5).

Wormian bones on a skull x-ray are a strong indicator of OI. A blanching mark from pressure of a shoe or sock may be normal and may last 40 to 60 minutes in a fair-skinned child. Thickened skin or bursa formation over the knees suggests that the child is still crawling for mobility past the typical age. Acanthosis or hyperpigmentation may signal insulin resistance or just chronic irritation of an area.¹⁹ Subcutaneous tissue and hydration status is important, with loose abdominal skin suggesting recent significant weight loss.

Clubbing as a sign of serious pulmonary or gastrointestinal disease might be obvious or more subtle with just a filling-in of the normal nail-to-nail-plate angle. Distal acrolysis is seen with some sensory neuropathies and can mimic clubbing. Blue or purple coloration of dependent parts is common where there is lack of normal muscle action and is sometimes dramatic; often the effected limb is cool to touch but has good capillary refill. Reassurance that the observed color change reflects a problem with venous drainage rather than arterial supply can usually be delivered. Very mild diffuse puffiness without tenderness, redness, or warmth is also common and may not be a major concern, although pitting edema or edema in nondependent areas would warrant investigation.

Orthopedic and rheumatologic examinations are key portions of the pediatric rehabilitation examination. Standard ROM varies with age mainly in that infants are normally born with slight flexion contractures of hips and knees and internal tibial torsion. Lack of range or excess range may be noted and may reflect neuromuscular imbalance; for example, excess dorsiflexion range commonly seen in L5 spina bifida demonstrates plantar flexion weakness compared with dorsiflexion. Classic arthrogryposis multiplex congenita usually presents with flexed wrists, extended elbows, clubfoot, and variable hip and knee contractures.²⁰ Generalized hypermobility of joints may reflect either hypotonia or abnormal collagen formation, and skin hyperextensibility should be looked for as well. Even slight contractures or deformities may suggest underlying specific neurologic disease. Elbow contractures are common to both collagen VI (Bethlem-Ullrich) congenital muscular dystrophy and Emery-Driefuss syndrome, but keratosis pilaris is strongly associated with only the former, for example. Hamstrings and heel cords must be assessed with control of all joints these structures cross; hamstrings must be checked with a fixed 90 degrees of hip flexion and posterior pelvic tilt prevented, usually by having the patient supine, and the heel cord must be checked with the knee as fully extended as possible. Hip flexion contracture can be missed if lordosis is permitted to occur during the stretch into extension. Flexion of the opposite leg to fix the pelvic position should achieve this (Thomas test; Fig. 65–6). If there are knee flexion contractures, it can be done with the knee rather than the ankle at the edge of the table.

Traditional cervical, knee, and shoulder maneuvers may be appropriate in older pediatric patients with a history of injury, but one must always consider precautions for bony fragility or ligamentous laxity. Passive ROM may still be performed with the hands very close to the joint being ranged rather than creating torque through a long bone, except in osteogenesis imperfecta or other severe osteoporosis or with known severe bleeding diathesis such as hemophilia, where active ROM alone must suffice.

Spine and hips must be assessed in any condition where risk of scoliosis or subluxation is present, as well as in first visits for any child. Examination of the spine from different positions (posterior, anterior, and lateral) and from the side in sitting and in standing with forward bending is critical. With a good eye, one will typically be able to see about 10 degrees or more of curve, but rotatory components and significant curve in an obese patient may be more difficult. Postural changes including pelvic tilt or obliquity should be noted. Flexibility and symmetrical postural variation such as excess lordosis and kyphosis should be described (Fig. 65–7).

Scoliosis series radiographs are appropriate to obtain a baseline in scoliosis patients and to objectively assess progression during the growing period. Leg-length differences may be either real or apparent due to pelvic asymmetry. Examination of the iliac crest levels in stance and identification of compensations such as excess knee flexion on a long side or equinus on a short side should be done. Stacks of flat ¼- and ½-in. wood blocks may be used to try to achieve a level pelvis and eliminate compensation. This will usually work better in lower motor neuron or limb growth differences from orthopedic or genetic causes and may not predictably alter the pattern of asymmetry due to upper motor neuron conditions. Sharply contoured kyphosis suggests Scheuermann’s disease (Fig. 65–8).

Hips should be assessed in supine for femoral length difference (Galeazzi sign), asymmetry of abduction, and with a modified Ortolani and Barlow test (usually done one side at a time in a larger child) to feel for subluxation or subluxability (Fig. 65–9). Asymmetrical skin folds should be noted, if present, but are less reliable indicators. Anterior rather than posterior dislocation is rare but may be palpable, and adduction, not abduction, is limited. Iliotibial band tightness can also limit adduction, but it will be less marked with hips flexed than extended. Hip pain may be referred to the knee and occasionally vice versa. Physically examination and radiographs (when appropriate) should be performed bilaterally in all cases.

Slipped capital femoral epiphysis may develop with or without a history of trauma and is associated with limitations of internal rotation, particularly with extension of the affected hip. Radiographic confirmation is appropriate (Fig. 65–10).²¹

Undergrowth of a limb may occur with any asymmetrical neurologic impairment and will be more marked with lower than upper motor neuron causes (e.g., subtle in hemiparetic cerebral palsy and more obvious in brachial plexus palsy or distal spinal cord malformation).²² Hemihypertrophy of the body, face, or a limb may occur in genetic syndromes such as Beckwith-Widemann syndrome or Klippel-Trenaunay syndrome.²³ Inflammatory lesions may stimulate growth plates, and old injuries may have damaged them. Very small limbs with or without other malformation may be noted in Cornelia de Lange syndrome and some other genetic syndromes and in caudal regression sequence.²⁴ Shortened fourth and fifth metacarpal, clinodactyly, missing muscle groups, and limb deficiencies should also be noted for syndromic associations.

Coronal plane and rotational alignment norms are also age dependent. Mild valgus/calcaneal eversion is normal at birth but should correct with walking and should never be rigid or painful. Varus and valgus at the knee have normal variation with age, varies up to 15 degrees at birth through walking age, develops into valgus that is maximal (10–15 degrees) at 18 to 36 months, and then gradual straightens by 7 to 8 years to adult norms; slight valgus is acceptable for females (Fig. 65–11).

This should be differentiated from tibial bowing, which, if persistent or severe, is consistent with Blount disease (tibial bowing associated with genu varum) and requires orthopedic management; bowing of multiple long bones is seen in OI and in some other bone dysplasias (Fig. 65–12).²⁵

A sharply angulated contour suggests underlying pseudoarthrosis as may be seen in neurofibromatosis. Tibial torsion goes from 0 to 5 degrees internal at birth to 15 degrees external as an adult. Femoral anteversion is up to 40 degrees at birth and may be 10 degrees or a little more for some females by age 8.

In-toeing and out-toeing may have a wide variety of causes—ranging from hip disorders to the subtalar joint and foot conditions²⁶ (Fig. 65–13). In such cases, a determination of whether knees and feet point in the same direction in standing and walking should be made. Excess external rotation from the hip is checked by rotating the foot and leg inward in the supine position with the hip flexed or in sitting. It should slightly exceed internal rotation. Asymmetry or lack of internal rotation, along with excess external rotation, which notably increases with hip flexion, occurs in slipped capital femoral epiphysis, which requires immediate orthopedic referral. Limited external rotation with the knee and toes both pointing inward in gait indicates femoral anteversion, which may resolve between 3 and 8 years of age or respond to physical therapy. If the knees do not turn in as much as the toes, examination of the femoral condyles and malleoli in the sitting position is warranted. The medial malleolus is normally anterior by 15 to 20 degrees by 6 to 7 years of age. Dynamic internal rotation of the leg may be produced by a tight medial hamstring rather than bony internal tibial torsion. This is a common pattern with spasticity. Sometimes the opposite occurs with a more active lateral than medial hamstring in spina bifida.