* The contributions of Pamela E. Wilson and Susan D. Apkon, who wrote on this topic in the previous edition, are acknowledged.
History
The approach to obtaining the history on a pediatric patient will vary based on their age and developmental level. As much as possible, the child should be included in the discussion of his or her health. With very young children, the history is typically obtained from the parent or caregiver. However, a parent’s perception of a child’s function and health is often inconsistent with the child’s perception. With adolescents, it is beneficial to have the parent or caregiver leave the examination area briefly to allow the child to provide additional history or ask questions that they may be uncomfortable doing in the presence of their family.
On the initial visit, it is helpful to the patient and family to summarize the reason for the referral. Often, families do not know why their child has been referred. They have limited understanding of what a pediatric physiatrist is and what they can expect from the visit. A brief description of what the evaluation will entail, the focus on functional assessment, and what the physiatrist can offer the child and family helps to set the tone and alleviate anxiety. Asking the child and family what they feel is the underlying diagnosis or problem also assists in evaluating the family’s current understanding of the child’s medical condition and what concerns are important to the family.
Birth History
A thorough history should include any issues during the pregnancy as well as during labor and delivery. Maternal complications during pregnancy, such as seizures, febrile illnesses, hypertension, or hyperglycemia, should be evaluated. Any medications or drugs that the mother took during the pregnancy should be reviewed for potential impact on the fetus. Infants exposed to alcohol or cocaine, for example, often have significant cognitive, behavioral, and motoric impairments. The duration of gestation, presence of multiples, and presentation at birth are also important factors. Premature delivery and multiples are known risk factors for cerebral palsy. The examiner should ask if the mother received prenatal care. If a mother did not receive prenatal care, she may not have taken additional folate to decrease the risk for spinal dysraphisms. The family should be asked if there was a decrease in fetal movements noted at any time during the pregnancy that could indicate a neuromuscular problem such as spinal muscular atrophy.
The child’s birth weight and length as well as the Apgar scores should be noted. Higher birth weights with a vaginal delivery may lead to a fractured clavicle and brachial plexus injury. The Apgar score consists of five components: activity, pulse, grimace, appearance, and respiration. Each component is scored from 0 to 2 and recorded at 1 minute, 5 minutes, and 9 minutes. A score of 7 to 10 is considered normal. Postnatal complications such as hyperbilirubinemia, retinopathy of prematurity, respiratory difficulties, feeding difficulties, and duration of respiratory support may provide clues to underlying pathology and functional impact. Complications with previous pregnancies such as stillbirth, miscarriages, or fetal anomalies should be recorded.
History of Presenting Problem
The physician should determine the onset of the current problem and any associated factors. It should be noted if the symptoms are worsening, static, or improving. It is important to determine which diagnostic tests have been performed as well as any treatments that have been initiated. Questions regarding the child’s temperament and personality can provide insight into their readiness to participate in therapies as well as which approaches may be most helpful. The child’s medical history should be reviewed for any similar problems as well as any significant illnesses, hospitalizations, surgeries, procedures, or previous trauma. Medications should be reviewed for any possible side effects on the nervous and/or muscular systems. Allergies should also be reviewed, including any feeding intolerances. A history of early allergies with different formulas may indicate a feeding difficulty rather than a true allergy. Immunization status is important to determine because of the risk for disorders such as tetanus.
Developmental History
This is one of the most important aspects of the pediatric history. Illnesses, injuries, and different disease processes can have a profound impact on the attainment of developmental milestones. Delays may be noted in gross motor, fine motor, speech and language, and/or psychosocial areas. A thorough understanding of the developmental milestones ( Table 2-1 ) and the age at which the child attained them can assist with diagnosis and treatment protocols. If the delays are primarily motoric in nature, then a neuromuscular disorder is more likely. If the delays are noted in speech and language skills, then further assessment of the child’s hearing is warranted. Infants with hearing loss start to fall behind after 6 to 8 months of age and may present with decreased babbling. Parents should be asked if there is a history of recurrent ear infections.
Age | Gross Motor | Language | Fine Motor | Social |
---|---|---|---|---|
3 mo | Good head control in sitting Rolls back to side | Cries Coos | Grasps toy Object to mouth Hands to midline | Smiles at face |
6 mo | Ability to sit Rolls both ways | Babbles Makes vowels sounds | Thumb opposition emerging Reaches with one hand | Recognizes family members |
9 mo | Crawls Pulls to stand and cruises | Uses gestures Understands “no” | Can release voluntarily Pincer grasp (crude) Can point | Plays patty cake Plays peek-a-boo |
12 mo | Walks with hand held or independently Can squat (stand to sit) | Mama/dada specific Has at least two other words Responds to name | Bangs two blocks together Grossly turns pages in a book Puts objects in a container Pincer grasp (mature) | Waves bye-bye |
18 mo | Can run Walks stairs | Four to 20 words Follows simple instructions One or more body parts | Builds tower of two to four cubes Throws ball Scribbles | Feeds self Takes off simple clothes |
24 mo | Kicks ball Runs better | Two-word sentences Body parts Intelligible most of the time (70%) 200 words | Builds tower of six or seven cubes Turns a door knob Can draw a vertical line | Can put on some clothes |
3 yr | Balances on one foot Rides a tricycle | First and last name Knows age and sex Three-word sentences Can count three objects | Builds tower of 9 to 10 cubes Holds crayon with fingers Copies circle | Dresses Potty trained Separates easily |
4 yr | Hops on one foot Stands on one foot for 5 seconds | Four- to five-word sentences Counts to four Knows colors | Throws ball overhead Uses scissors Draws circle and square Draws person of two to four parts | Tries to be independent Imaginary play |
5 yr | Skipping Stands on one foot for 10 seconds Mature gait Walks backward heel-toe | Counts 10 or more objects Six- to eight-word sentences Knows coins Knows address | Catches a ball Copies triangle Draws person with a body | Ties shoelaces Sings and dances |
A discussion of the developmental milestones is also helpful in educating the family regarding what the child should be doing and what skills they should be working on. Often families are focused on their child walking when they need to take a step back and work on their child sitting independently or working on standing balance, for example. It should also be emphasized that there is a wide age range of normal for the attainment of certain skills, and families may notice that their child progresses at different rates within the different areas.
Family History
The family history should include any history of early stroke, early myocardial infarction, peripheral neuropathy, joint or tissue abnormalities, myopathies, or bony abnormalities. Gait abnormalities or developmental delays should be investigated through multiple generations. Certain disease processes such as myotonic dystrophy will present in milder forms in previous generations and may be missed until a more severely affected family member presents for medical evaluation. If a genetic disorder is suspected, the child and family should be referred for genetic testing. This can help with planning for future pregnancies and to provide counseling to the extended family.
Social and Educational History
The examiner should inquire about the child’s environment including who lives with them in the home, who the primary and secondary caregivers are, and the layout of the home. Accessibility is assessed by determining the number of stairs to enter the home, the levels of the home, and where the child’s bedroom and bathroom are located. It is important to also evaluate the child’s peer group and their interactions with their peers. Extracurricular activities can give insight into a child’s social skills and personality. The child’s current educational history should include the grade they are in, the presence of an individualized education plan or 504 plan for additional education supports, any failed or repeat grade levels, and if the child ever received early intervention services.
Physical Examination
There is not a standardized approach to the examination of the pediatric patient. It should be tailored to the age and developmental level of the child. The examination commences with the first introductions. As the examiner is obtaining the history, observation of the child can provide a great deal of information about social skills, language, motor movements, and personality. Before touching the child, it is helpful to develop a rapport by playing or talking with him/her. A pen light, a badge on a retractable holder, or bubbles are easy tools to engage a child and test visual fixation, reach, grasp, and release at the same time. Knowledge of popular cartoon or movie characters, popular athletes/teams, or singers can be very helpful in engaging children.
Very young children are typically most comfortable on their parent’s lap during the examination, where they feel safe. The infant is usually very tolerant of gentle physical handling by a stranger until about 9 months of age, when stranger anxiety develops. Older children and adolescents can easily be evaluated on the examination table.
Growth
Height and weight should be plotted and monitored as the child grows. The average full-term newborn measures 50 cm in length. Height increases 50% by age 1 and doubles by 4 years of age. A child’s adult height can be estimated by doubling their height at age 2 years. Short stature may be seen with Turner syndrome and Down syndrome. Growth may be arrested early as a result of precocious puberty with premature closure of the growth plates. Precocious puberty is defined as the onset of puberty in girls younger than 8 years and boys younger than 9 years of age. Precocious puberty is commonly seen in cerebral palsy and other brain injuries, as well as spina bifida.
The average full-term newborn in the United States weighs 3400 g. It is normal for the infant to initially lose weight, but this is regained quickly and by 5 months of age should have doubled. By a year, the child should have tripled his/her birth weight. Any deviation off of the child’s expected growth curve should be evaluated closely. Decreases in height velocity or weight loss may be associated with poor nutrition or malabsorption. Significant increases may indicate a pituitary tumor, metabolic disorder, or poor diet. Childhood obesity has now reached epidemic proportions in the United States and is considered a health care emergency. There are growth charts available for specific genetic syndromes such as Turner syndrome and Down syndrome, as well as the cerebral palsy population, based on their gross motor functional classification, and the myelomeningocele population.
In evaluating the infant, a head circumference should be checked and monitored serially for the first several years. The average head circumference at birth is 35 cm and increases to 47 cm by 1 year of age. If the child has macrocephaly, defined as a head circumference greater than 2 standard deviations above the mean, a quick inspection of the parents’ head sizes may help to differentiate between a familial trait and hydrocephalus or some type of mass. Hydrocephalus may be present at birth or develop over time. It is commonly seen after closure of a myelomeningocele defect. Microcephaly is a head circumference greater than 2 standard deviations below the mean. This indicates that the brain has not fully formed, as in anencephaly, or that growth has been arrested as a result of some sort of insult such as anoxia or infection. It may also be seen in certain neurodegenerative disorders.
Inspection
On evaluating the child, initial inspection should assess the child’s general appearance, movements, engagement, and overall health. Close observations of any facial anomalies, joint abnormalities, or asymmetry of stature or sides should be noted. The presence of certain physical abnormalities is linked with some common syndromes, as noted in Table 2-2 .
Syndrome | Abnormalities |
---|---|
Angelman syndrome | Severe mental retardation, delay in attainment of motor milestones, microbrachycephaly, maxillary hypoplasia, deep-set eyes, blond hair (65%), ataxia, jerky arm movements resembling those of a marionette (100%), seizures |
Hunter syndrome | Growth deficiency, coarsening of facial features, full lips, macrocephaly, macroglossia, contractures of joints, broadening of bones, hepatosplenomegaly, delayed tooth eruption |
Marfan syndrome | Tall stature with long slim limbs, little subcutaneous fat, arachnodactyly, joint laxity, scoliosis (60%), retinal detachment, upward lens subluxation, dilatation of ascending aorta |
Neurofibromatosis syndrome | Areas of hyperpigmentation or hypopigmentation with café-au-lait spots (94%); “freckling” of axilla, inguinal folds, and perineum; cutaneous neurofibromas that are small, soft, pigmented nodules; plexiform neurofibromas; Lisch nodules |
Skin examination may be significant for birth marks such as port wine stains, hyperpigmented areas such as café-au-lait spots ( Figure 2-1 ), axillary freckling, or acute changes such as the scalded skin appearance of Stevens-Johnson syndrome or the purpura of meningococcal infections. Port wine stains in the distribution of the first branch of the trigeminal nerve are associated with Sturge-Weber syndrome. A sacral dimple, skin lesions over the spine, and/or a hairy tuft over the lumbar or sacral spine may indicate spina bifida occulta. In children with ataxia, telangiectasias are typically present over the flexor surfaces of the elbows and knees. The ash leaf spot in association with seizures and hemiplegia is present in tuberous sclerosis.
Evaluation of the head and neck should note cranial deformities, facial dysmorphisms, and asymmetries. With the institution of the Back to Sleep program in 1992, many children now present to their pediatricians with flattening of the occiput, brachycephaly, or plagiocephaly, which usually resolves when the child begins to sit independently. Epicanthal folds and palmar simian creases are well-known hallmarks of Down syndrome. Other conditions present with anomalies such as low-set ears, hypertelorism, wide-set eyes, and micrognathia. If the sclera of the eyes has a bluish tinge, the examiner should consider osteogenesis imperfecta.
Musculoskeletal Assessment
The musculoskeletal assessment includes inspection and palpation of the bones, joints, and muscles. Any asymmetries in muscle mass or limb size should be noted. Lymphedema may present as swelling and increased growth in an upper and/or lower limb. Congenital amputations associated with amniotic band syndrome may include digital, transhumeral, transradial, or transtibial amputations. Apparent calf hypertrophy with a doughy feeling on palpation of the muscles is consistent with Duchenne muscular dystrophy ( Figure 2-2 ). The absence of the pectoral muscle and ipsilateral hand deformities with brachydactyly or syndactyly is described in Poland syndrome ( Figure 2-3 ). Palpation of the joints evaluates for tenderness, swelling, warmth, and synovial thickening.
Both passive and active range of motion of all joints should be evaluated. Joint mobility will change during growth. A full-term infant may lack as much as 25 degrees of elbow extension and 30 degrees of hip extension. A preterm infant, conversely, tends to have increased range of motion as a result of lower muscle tone.
Loss of range of motion may be attributable to joint contracture from arthrogryposis, orthopedic conditions such as Klippel-Feil syndrome, spasticity, pain, inflammatory disorders such as juvenile inflammatory arthritis, or trauma. Connective tissue disorders such as Marfan syndrome will result in joint hypermobility as well as an increase in skin elasticity. An anxious child may not be as easy to examine, and the examiner will need to determine whether there is a volitional component affecting the range of motion.
The back and spine examination should focus on any bony abnormalities as well as any muscular asymmetries. The child should be examined in both sitting and standing positions because any leg length discrepancy may impact the spine and pelvis examination. Shoulder height, the position of the scapulae, the space between the trunk and the upper limbs, and the height of the pelvis should be evaluated. A rib hump and increased space between the trunk and upper limbs is noted in children with scoliosis ( Figure 2-4 ). The curve should be evaluated by serial radiographs to determine the severity, flexibility, and progression of the curve over time. Idiopathic scoliosis in adolescent girls is the most common type of scoliosis, with a right thoracic curve noted. The rib hump can be further accentuated by having the child bend forward. Other spinal abnormalities are listed in Table 2-3 . A congenital elevation of the scapula or a Sprengel deformity ( Figure 2-5 ) is often seen in association with Klippel-Feil syndrome and cervical spine abnormalities.
Spine Abnormality | Clinical Findings |
---|---|
Scoliosis (idiopathic, congenital, neuromuscular) | Curvature of spine on forward bending Rib humping Shoulder asymmetry Pelvic obliquity |
Kyphosis (congenital, Scheuermann, neuromuscular) | Abnormal posture increases with flexion |
Spondylolisthesis | Loss of lordosis, reduced range of motion Step-off back deformity Gait abnormalities Transverse abdominal creases |