Pediatric Clinics of North AmericaVolume 45 • Number 1 • February 1998Copyright © 1998 W. B. Saunders Company

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Physical Assessment

THE CHILD WHO HAS SEVERE NEUROLOGIC IMPAIRMENT

Gregory S. Liptak MD, MPH

From the University of Rochester Medical Center, Rochester, New York

Severe neurologic impairments include chronic conditions that are associated with developmental delay,such as cerebral palsy; meningomyelocele (spina bifida); mental retardation (of multiple etiologies);autism; and impairment of senses including hearing and vision. Table 1 lists the major pathophysiologiccategories and examples of some conditions. An understanding of the pathophysiologic mechanisms iscritical for treatment and prognostication. Yet, the child and family must contend with the effects ofthese conditions on functioning. Table 2 , based on the classification system of the World HealthOrganization [50] and National Center for Medical Rehabilitation Research, [49] provides a system tounderstand better the functional needs of children who have these conditions. For example, the AmericanAssociation of Mental Retardation now defines mental retardation as the inability of the child to adapt tohis or her environment as well as an intelligence quotient below 70 or 75. [1] Traditionally, physicianshave focused on the first three categories in Table 2 , while ignoring disability and handicap. Byexpanding the inquiry of the history and physical examination to include disability and handicap, thepractitioner can better understand and treat the consequences of the condition and improve the qualityof life of the child and family.

Address reprint requests toGregory S. Liptak, MD, MPHUniversity of Rochester Medical Center601 Elmwood AvenueRochester, NY 14642-8777

The history and physical examination of children who have severe neurologic impairments serves four majorpurposes: (1) to describe the child's current physiologic status, including general health; (2) to describe thechild's current functional status, including developmental abilities and disabilities; (3) to identify the etiology ofthe condition; and

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TABLE 1 -- CATEGORIZATION OF NEUROLOGIC IMPAIRMENTS BY PATHOPHYSIOLOGICCHARACTERISTICS

Pathophysiologic Category ExamplesMetabolic Amino acids Phenylketonuria, maple syrup urine

disease Carbohydrates Galactosemia Organic acids Propionic acidemia Lysosomal storage disorders Glycogen storage disease,

mucopolysaccharidosis Lipid storage disorders Gangliosidosis like Tay-Sachs

disease Metallic disorders Wilson's disease, Menkes kinky

hair diseaseHereditary and degenerative Friedreich's ataxia, Huntington's

disease, Tourette's syndromeChromosomal Down syndrome, fragile X

syndrome, Prader-Willi, Angelmansyndrome

Malformations Neural tube defects, Dandy-Walkersyndrome

Prenatal and perinatal trauma and ischemia or asphyxia Cerebral palsyInfection Encephalitis, meningitisAutoimmune and postinfectious Rheumatic fever, systemic lupus

erythematosisTrauma and physical agents Closed head traumaTumors Neurofibromatosis, tuberous

sclerosis, astrocytomaToxic and nutritional disorders Lead poisoning, fetal alcohol

effects, malnutritionCerebrovascular disorders Cyanotic heart disease with

cerebral infarctParoxysmal disorders West syndrome, other forms of

epilepsyDiseases of the motor unit Spinal muscular atrophy

(4) to describe the child's environment. This knowledge allows the practitioner to render a prognosis for thechild's future development and for future complications that may be preventable (e.g., joint contractures in achild who has spastic quadriplegia); to provide a risk of recurrence for subsequent offspring of the child and hisor her family; and to develop a treatment plan that may alleviate or cure the condition, decrease symptoms,provide support for the family, and maximize functioning.

TABLE 2 -- A THEORETICAL FRAMEWORK FOR EVALUATING CHILDREN WHO HAVENEUROLOGIC CONDITIONS, USING THE EXAMPLE OF A CHILD WHO HAS CEREBRAL PALSY

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Dimension Level of Problem ExampleAbnormal pathophysiology Cellular, subcellular Cell death from

periventricularhemorrhage

Impairment Organ and organ system Spasticity, weaknessFunctional limitation Interaction of systems Abnormal gait (short

stride length)Disability Activities of daily living,

functional roleInability to climb stairs

Handicap Societal interaction withindividual

Inability to use publictransportation

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This article discusses an organized method of obtaining a history and physical examination to achieve thesepurposes. In addition, it discusses some considerations for evaluating the child who has severe neurologicimpairment and is acutely ill.

HISTORY

General

Any child, with or without neurologic impairments, should have an assessment of general health, includingassessment of issues related to preventive measures like safety and immunizations; sleep; toileting; play; andactivities--including how the child functions in programs like school or preschool intervention agencies. Ageneral review of systems should also be obtained as well as an interim history of visits to physicians,emergency departments, or hospitalization. The presence of allergies and the use of current medications shouldbe documented. Information should always be sought regarding the parental perception of the child's vision andhearing. Information about the dental care received by the child should also be noted.

Information regarding a typical day from the time the child awakens to the time he or she sleeps can provideinsights into the child's routine activities; nutritional status; and parent-child interactions (e.g., whether theparent spends time playing with the child and participating in stimulating activities). In addition, it may provideclues to the nature of the child's condition. For example, if a child who appears to have dyskinetic cerebral palsyhas symptoms that worsen significantly as the day progresses, dopa-responsive dystonia should be considered.[21] This rare but treatable form of dystonia may begin with toe-walking and difficulties with gait and respondsdramatically to the administration of levodopa. There is usually no history of pre-existing condition that wouldcause cerebral palsy.

Because a child's temperament can affect the manifestations of developmental delay or even be mistaken fordevelopmental delay or a psychiatric condition (e.g., the slow-to-warm-up child who is labeled as retarded ordepressed), a temperamental profile may be useful. Interactions with peers, amount of time spent watchingtelevision, and activities related to sexuality should be discussed.

Questions regarding the integrity of the skin should be asked of all children who have decreased mobility (suchas the child who has severe cerebral palsy and remains in bed or in a wheelchair all day) or decreased sensation(like the child who has meningomyelocele). Decubitus ulcers occur commonly in these individuals, especially

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during adolescence. [18] [36] They are expensive to treat and preventable through changing the child's positionsand relieving pressure from wheelchair and bed.

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Past History

Table 3 outlines some of the information that should be sought whenever obtaining a past history of a childsuspected of having neurologic impairment. Information should include prenatal, perinatal, and neonatal eventsas well as serious acute illnesses, recurrent illnesses (like otitis media), past surgery, and trauma. Detailsregarding nutrition and exposure to toxins should be sought too. A detailed pedigree of the family [14] should beacquired, outlining the previous two generations in an attempt to identify any familial conditions similar to thepatient's problem and to identify consanguinity. The greater the number of biologic risk factors, the greater thelikelihood that the child will develop abnormally. For example, in a study of prenatal and perinatal risk factors,Holst et al [20] found that a combination of three or more factors predicted later developmental delay; 11% of themothers had three or more risk factors but accounted for 43% of the disabled children.

Developmental Status and Progress

The practitioner should obtain information regarding the parents' perceptions of the child's condition. A parentalreport of concerns regarding their children's development, including speech and language problems, has beenshown to have high sensitivity and specificity. [16] [17] Standardized assessment of a child's development by theparent(s) is available through instruments, such as the Assessment, Evaluation, and Programming System forInfants and Children. [6] These questionnaires can be administered prior to the pediatric visit and reviewed withthe family during the visit.

An assessment of the child's current level of functioning and previous developmental milestones should beobtained for all areas of development including cognitive, fine motor, gross motor, speech, and language andsocialization. These should include self-help and adaptive skills in areas such as feeding (e.g., feeding self withfingers, using a cup); dressing (e.g., using buttons and snaps, tying shoes); and grooming (e.g., toileting,brushing teeth and combing hair). Guidelines for these skills are published in most pediatric textbooks.Checklists and formal instruments to assess milestones are also available. [26] An inventory of skills describesthe child's current level of functioning and may be useful for prognostication. For example, a child who haspoor head control at 3 years of age and does not sit at 4 years of age is unlikely ever to walk. [7] For manymoderate conditions, predicting subsequent development, especially from infancy, is imprecise. [28] Identifyingthe rate of developmental progress by noting milestones over a series of examinations separated by months,however, provides a much better prognosis than the findings of a single examination. [2]

Because of the popularity of the Denver Developmental Screening Test, most physicians are aware of thedevelopmental milestones of

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TABLE 3 -- INFORMATION THAT SHOULD BE SOUGHT IN THE HISTORY OF A CHILD WITHNEUROLOGIC IMPAIRMENT

Adapted from Liptak GS: Mental retardation and development disabilities. In Kliegman RM, Nieder ML,Super DM (eds): Practical Strategies in Pediatric Diagnosis and Therapy. Philadelphia, WB Saunders, 1996,

p 499.

Item Possible Significance

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Parental concerns regarding development Parents are quite accurate inidentifying developmentalproblems in their children

Current levels of developmental functioning Establish a baseline to monitor thechild's progress

Temperament May interact with disability or maybe confused with developmentaldelay

Prenatal history Maternal (and paternal) ages Increased risk of chromosome

anomalies with increasing age Alcohol ingestion Fetal alcohol effects; an index of

caretaking risk Illegal drug, toxic, or medication exposure Developmental toxins (e.g.,

phenytoin), an index of caretakingrisk

Radiation exposure Damage to central nervous system Nutrition Inadequate fetal nutrition Prenatal care Index of social situation Injuries, hyperthermia Damage to central nervous system Smoking Possible central nervous system

damage HIV exposure Congenital HIV infection Maternal phenylketonuria Elevated phenylketonuria can

damage the fetal brain Maternal illness, bleeding, toxemia, diabetes Toxoplasmosis, rubella,

cytomegalovirus, herpes infections;increased risk of structuralanomalies with maternal diabetes

Perinatal history Gestational age, birth weight Biologic risk from prematurity and

intrauterine growth retardation Labor and delivery Hypoxia or index of abnormal

prenatal development Apgar scores Hypoxia, cardiovascular

impairment Specific perinatal adverse events Increased risk for central nervous

system damageNeonatal history Illnesses (seizures, respiratory distress, hyperbilirubinemia, metabolicdisorder)

Increased risk for central nervoussystem damage

Malformations May represent syndrome associatedwith neurologic impairment

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Problems with feeding Many neurologic conditions areassociated with difficult feeding

Family history Consanguinity Autosomal recessive condition

more likely Mental functioning Increased hereditary and

environmental risks Illnesses (e.g., metabolic disease) Hereditary illness associated with

developmental delaySocial history Resources available (financial, social support, and so forth) Necessary to maximize child's

potential Educational level of parents Family may need help to provide

stimulation Mental health problems May exacerbate child's conditions High-risk behaviors (illicit drugs, sex) Increased risk for HIV infection;

index of caretaking risk Other stressors (e.g., marital discord) May exacerbate child's conditions

or compromise careOther past history Gender of child Important for X-linked conditions Developmental milestones Index of developmental delay;

regression may indicate progressivecondition

Head injury Even moderate trauma may beassociated with developmentaldelay orlearning disabilities

Surgery May indicate associatedabnormalities (e.g., strabismus);complications ofsurgery may affect neurologicfunctioning

Serious infections (e.g., meningitis) May be associated withdevelopmental delay or loss ofhearing

Toxic exposure (e.g., lead) May be associated with neurologicimpairment

Physical growth May indicate malnutrition; obesity,short stature associated with some conditions (e.g., Prader-Willisyndrome)

Recurrent otitis media Associated with hearing loss andabnormal speech development

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Visual and auditory functioning Sensitive index of impairments ofvision and hearing

Nutrition Malnutrition during infancy maylead to neurologic impairment

Chronic conditions like renal disease or anemia May be associated with neurologicimpairment

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children below the age of 5 years, but are unaware of milestones that children achieve after 5 years of age.Guidelines for these are available [27] and school records can be used to help evaluate cognitive and socialfunctioning.

If the child's development has deteriorated (regressed) so that he or she no longer functions as well as before, aprogressive neuropathy is likely. Progressive neuropathies are often due to metabolic causes likehomocystinuria, whereas static neuropathies are usually due to structural abnormalities or are the result ofprevious trauma (including hypoxia). More than 300 neurodegenerative disorders have been described, andcomplete lists may be found in textbooks of neurology [43] or metabolism. [32] Infection with HIV can causeprogressive encephalopathy and should be considered in any child who has developmental regression.

Neurodegenerative disorders are often categorized as involving white matter, gray matter, basal ganglia, or theentire central nervous system (CNS). Classically, diseases of white matter, such as adrenoleukodystrophy,affect long tracts and present with loss of motor skills, spasticity or ataxia, focal neurologic deficits, and loss ofvision, whereas gray matter diseases, like gangliosidosis type II, present with personality change, seizures, andabnormalities of cognition (including dementia), vision, and hearing. Many disorders classified as white matteror gray matter, however, present with a mixed picture of signs and symptoms. Diseases that primarily involvethe basal ganglia, such as Huntington's disease, present with mental deterioration, behavioral changes, rigidity,and signs like ataxia, dysarthria, and incoordination. As these diseases progress, neurologic signs and symptomsbecome less specific.

Social

An evaluation of the home including family composition, resources (such as financial), stresses, and socialsupports should be sought. Sociocultural risk factors have a profound effect on development and interact withbiologic risk factors. Perinatal and other biologic risk factors, such as prematurity, that can lead to intellectualimpairment do not have the same detrimental consequences for middle- or upper-class children as they do forpoor children. This has been documented in a number of studies, [13] [29] [46] [47] including the classic work ofWerner [46] [47] on the children of Kauai, Hawaii, who found that despite multiple perinatal risks, the educationalstimulation received in the home at age 2 was the best predictor of IQs below 85 and of achievement problemswhen the children were 10 years old.

Except in children who have catastrophic impairment, child-rearing conditions that support and enrich earlydevelopment can compensate for many biologic deficits. Sociocultural conditions, such as small family size,higher level of parental education, and fewer changes in residence, have a more powerful effect than manybiologic risks and seem to be

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more important predictors of developmental functioning as the child ages beyond infancy. [8]

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Feeding and Nutrition

Children who have neurologic impairment frequently have problems related to feeding and nutrition. [39]

Evaluation of dietary intake and comparison with recommended standards should be performed. The estimationof dietary intake is straightforward in children who are primarily on liquid diets, such as infant formula;however, dietary intakes can be difficult to assess in older children with a more varied diet and may require theassistance of a dietitian. The estimation of caloric needs also may be difficult. The recommended dailyallowances are based on normally growing, active children. They may not be appropriate for children who haveneurologic impairment, including children who have spastic cerebral palsy or those who are completelyinactive. Krick et al [25] have proposed an empirically derived formula for the calculation of energy needs forchildren who have cerebral palsy.

Information should be sought regarding the actual feeding process including the child's position; the mode offeeding (oral versus gastrostomy or jejunostomy tube); the textures of foods; whether or not the child coughs orchokes during feeds (which could indicate aspiration); whether or not feeding is enjoyable for the child andcaregiver, and the duration of feeds. Information about other factors that can affect feeding should be sought.These include anatomic abnormalities, such as cleft lip and palate; problems with teeth; abnormal reflexes, suchas tongue thrust or tonic bite; tactile defensiveness (hypersensitivity to touch, seen commonly in and around themouth); abnormal muscle tone (spasticity with or without arching) or abnormal movement (like athetosis); andother medical problems, like constipation, which occurs commonly in neurologically impaired children.

Neurologic

In addition to the assessment of developmental milestones discussed previously, specific questions regardingneurologic functioning should be asked. These include occurrence and type of seizures. For example, an infantwho has spasms characterized by brief muscle flexion or extension of the extremities and trunk has myoclonicseizures, or infantile spasms. If the child also demonstrates developmental delay (e.g., poor head and trunkcontrol), the child may have a serious condition including a metabolic disorder, such as phenylketonuria; aneurocutaneous syndrome, such as tuberous sclerosis; or a structural abnormality, such as cerebral atrophy. [9]

Other historical information includes alterations in consciousness; unusual movements (like athetosis orchorea); and the occurrence of tics.

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Children who have hydrocephalus should have information sought about headaches, lethargy, irritability,changes in the eyes or vision (e.g., strabismus), and, in infants, increases in head circumference, changes in thefontanelle, all signs of increased intracranial pressure, which may indicate a malfunctioning ventricular shunt.Subtle symptoms of a shunt malfunction include change in personality and deterioration of school performance.[23] Children who have Chiari malformation, including those who have meningomyelocele, should havequestions asked regarding choking, difficulty swallowing, or changes in upper extremity function. [19] Childrenwho have meningomyelocele should be asked about changes in gait and bowel and bladder function, becausethese also may indicate ventricular shunt dysfunction as well as tethered spinal cord. [51]

Behavior

In toddlers and older children who have neurologic impairment, information about behavior and behavioralchanges should be sought. [35] These could indicate worsening neurologic functioning, subtle seizures, or anadverse effect of medication. Some children who have developmental disabilities have aggressive, hyperactive,or oppositional behaviors (often termed dual diagnosis) that require expert management. Questions aboutstereotypic or repetitive behaviors (e.g., repeatedly opening and closing doors, or fascination with spinningobjects like fans) and narrow, all-absorbing interests (e.g., an obsession with combing a doll's hair) should be

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asked because these behaviors may be part of the constellation of pervasive developmental disorders thatincludes autism. Children who have pervasive developmental disorders generally have impaired social skills,delayed expressive language, as well as repetitive or stereotyped behavior. Girls who have Rett syndrome mayexhibit hand-wringing, whereas children who have Lesch-Nyhan syndrome may have self-injurious behavior,such as biting their fingers. Children who have Tourette syndrome often exhibit tics. Sleep disorders commonlyoccur in children who have neurologic impairment and can be a source of major stress for the family and child.

In addition to developing a rapport with the family, taking the history can provide insights into the child'sdevelopmental status. While the interview is occurring, the child's interactions with the environment (e.g., tolights and sounds) and with people should be observed. The child's general neurologic functioning can also beassessed; level of alertness, facial symmetry, extraocular movements, use and symmetry of extremities,locomotion, and posture can all be surveyed. The parental interactions with the child also should be noted.

Sulkes [42] has developed a useful mnemonic, MDs DD BASICS, to help remember the issues that should beaddressed in the evaluation of all children who have neurologic impairment. These include Motor, Diet,Seizures, Dermatology, Dental Care, Behavior, Advocacy, Sensory, Infections, Constipation, Sexuality, andSyndrome Specific.

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PHYSICAL EXAMINATION

General

Any child suspected of having neurologic impairment should have a complete physical examination, which mayreveal a recognizable pattern of malformation. If evaluations of vision and hearing have not previously beenperformed, they should be. If necessary, a brain stem auditory evoked response test can be performed toevaluate hearing and a visual evoked response test can be performed for vision. Table 4 lists some findings onphysical examination that may provide clues to the child's diagnosis. Head circumference, height or length, andweight should be obtained. Head circumference can easily and reliably be measured using a flexible measuringtape in all children. The measurement of weight is generally straightforward. Larger children who havedisabilities, however, may be difficult to weigh if they are too large for the infant scale but are unable to standindependently for a standard scale. A bed scale or wheelchair scale may be used to weigh these children. Onemethod is to weigh the caregiver and the child and then subtract the weight of the caregiver. Once children gettoo large for this method, an accurate weight may require a scale designed for wheelchairs.

Reliable measures of height or length in children with physical disabilities are often difficult due to scoliosis,joint contractures, and poor cooperation. [37] [44] Alternate measures to height or length, such as the segmentalmeasurement of upper arm length and lower leg length, have been used in children who have cerebral palsy. [11]

[38] [41] Formulae for estimating stature from these measurements and from knee height have been developed forchildren who have cerebral palsy. [40] Arm span can be used as a proxy for length in children who havemeningomyelocele. [4] The data can be plotted on specialized growth charts that have been developed for someconditions, including Down syndrome, [10] Prader-Willi syndrome, [12] de Lang syndrome, [24] andmeningomyelocele. [32] Other measures that may be useful include triceps and subscapular skinfold thickness.[11] Standards of skinfold thickness in children are available, [15] which may be a helpful adjunct in thenutritional assessment of children who have neurologic impairments, especially in those groups of children forwhom specialized growth charts are not available.

Tanner staging of boys and girls should be performed. Many abnormalities of the brain, like hydrocephalus, canlead to precocious puberty, which can be treated with medications like leuprolide, whereas other neurologicconditions, like septo-optic dysplasia sequence, may impair normal puberty.

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Dysmorphology

In addition to the general examination used to obtain an overview of the child's physical status and to determineif the child is acutely ill,

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TABLE 4 -- FINDINGS FROM THE PHYSICAL EXAMINATION OF A CHILD WHO HAS OR ISSUSPECTED OF HAVING NEUROLOGIC IMPAIRMENTS

Adapted from Liptak GS: Mental retardation and developmental disabilities. In Kliegman RM, Nieder ML,Super DM (eds): Practical Strategies in Pediatric Diagnosis and Therapy. Philadelphia, WB Saunders, 1996,

p 506.

Item Possible SignificanceGeneral appearance May indicate significant delay in

development or obvious syndromeStature Short stature Williams syndrome, malnutrition,

Turner syndrome; many childrenwho have severe retardation haveshort stature

Obesity Prader-Willi syndrome Large stature Sotos syndromeHead Macrocephaly Alexander syndrome, Sotos

syndrome, gangliosidosis,hydrocephalus,mucopolysaccharidosis, subduraleffusion

Microcephaly Virtually any condition that canretard brain growth (e.g., prenatalor perinatal brain injuries)

Face Asymmetry Coarse, triangular, round, or flat face Hypotelorism or hypertelorism, slanted or short palpebral fissure Unusual nose, maxilla, and mandible

Specific measurements mayprovide clues to inherited,metabolic, or other disease likefetal alcohol effects, cri du chat (5psyndrome), or Williams syndrome

Eyes Prominent Crouzon disease, Seckel syndrome Cataract Galactosemia, Lowe syndrome,

prenatal rubella, hypothyroidism Cherry-red spot in macula Gangliosidosis, metachromatic

leukodystrophy, mucolipidosis,Tay-Sachs disease, Niemann-Pick

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disease Chorioretinitis Congenital infection with

cytomegalovirus or rubella Corneal cloudiness Mucopolysaccharidosis I and II,

Lowe syndrome, congenitalsyphilis

Ears Pinnae, low set or malformed Trisomies, such as 18;

Rubinstein-Taybi syndrome; Downsyndrome; CHARGE association;cerebrooculofacial-skeletalsyndrome; fetal phenytoin effects

Hearing Loss of acuity inmucopolysaccharidosis;hyperacusis in manyencephalopathies, autism

Heart Structural anomaly or hypertrophy CHARGE association,

velocardiofacial syndrome(CATCH-22), glycogenosis II, fetalalcohol effects,mucopolysaccharidosis I;chromosomal anomalies like Downsyndrome; chronic cyanosis mayimpair cognitive development

Liver Hepatomegaly Fructose intolerance, galactosemia

glycogenosis types I-IV,mucopolysaccharidosis I and II,Niemann-Pick disease, Tay-Sachsdisease, Zellweger syndrome,Gaucher disease, ceroidlipofuscinosis, gangliosidosis

Genitalia Macro-orchidism Fragile X syndrome Hypogenitalism Prader-Willi syndrome, Klinefelter

syndrome, CHARGE associationExtremities Hands, feet, dermatoglyphics, and creases May indicate specific entity like

Rubinstein-Taybi syndrome or beassociated with chromosomalanomaly

Joint contractures Sign of muscle imbalance orspasticity around joints (e.g., withmeningomyelocele, cerebral palsy,arthrogryposis, muscular dystrophy,

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and so forth); also occurs withcartilaginous problem, such asmucopolysaccharidosis

Skin Cafe au lait spots Neurofibromatosis, tuberous

sclerosis, Bloom syndrome Eczema Phenylketonuria, histiocytosis Hemangiomata and telangiectasia Sturge-Weber syndrome, Bloom

syndrome, ataxia-telangiectasia Hypopigmented macules, streaks, adenoma sebaceum Tuberous sclerosis, hypomelanosis

of ItoHair Hirsutism De Lange syndrome,

mucopolysaccharidosis, fetalphenytoin effects,cerebroocularfacial-skeletalsyndrome, trisomy 18

Neurologic Asymmetry of strength and tone Focal lesion, cerebral palsy Hypotonia Prader-Willi syndrome, Down

syndrome, Angelman syndrome,gangliosidosis, early cerebral palsy

Hypertonia Neurodegenerative conditionsinvolving white matter, cerebralpalsy, trisomy 18

Ataxia Ataxia-telangiectasia,metachromatic leukodystrophy,Angelman syndrome

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the practitioner should evaluate the child for evidence of dysmorphic features. This includes an evaluation ofoverall symmetry and body appearance. A qualitative evaluation of the face may be useful (e.g., the child whohas fragile-X syndrome has a long face with prominent ears). A bird's-eye view (looking at the face from abovethe forehead) or a worm's-eye view (looking at the face from below the chin) can help identify symmetry andnormal development of the face and cranium. Evaluation of the face using quantitative measurements of facialfeatures, such as inner canthal distance, palpebral fissure length, and ear length can be made and compared withstandards. [22] Hand and foot measurements as well as dermatoglyphics and measurement of male genitalia(penile length and testicular volume) can help identify certain conditions. The search for minor malformationsshould include the entire body (Table 5) . Examination of the skin may provide clues to neurocutaneous

TABLE 5 -- DYSMORPHIC FEATURES THAT MAY OCCUR IN CHILDREN WHO HAVENEUROLOGIC IMPAIRMENT

Adapted from Montgomery T: Neurodevelopmental assessment of school-age children. In Capute AJ, AccardoPJ (eds): Developmental Disabilities in Infancy and Childhood, ed 2. Baltimore, Paul H. Brookes, 1996; with

permission.

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Head and Skull Chest and Back Microcephaly or macrocephaly Pectus excavatum or carinatum Frontal bossing Short sternum Brachycephaly Broad, shieldlike Asymmetry KyphoscoliosisFace Genitalia Asymmetry Cryptorchidism Micrognathia or prognathia Macroorchidism Midface hypoplasia Hypoplastic labiaEyes Shawl scrotum Hypertelorism or hypotelorism Microphallus Prominent epicanthal folds Limbs Small palpebral fissure Asymmetry Upward or downward slant Disproportionate to trunk Ptosis Increased carrying angle Speckling of the iris Hands and FeetNose and Mouth Syndactyly, polydactyly,

clinodactyly, Low or broad nasal bridge brachydactyly Anteverted nostrils Tapered or broad digits Long, short, or smooth philtrum Proximal thumb Cleft lip or palate Dysplasia of nails High arched palate Unusual dermatoglyphics or

creases Thin vermilion border Skin and Hair Abnormal teeth Tags, pits, dimplesEars Sacral pigmentation or hair Preauricular tags or pits Hirsutism or sparse hair Low set, malrotated Abnormal or absent whorls Abnormal helicesNeck Short or webbed Low hairline Limited range of motion

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TABLE 6 -- SOME NEUROLOGIC IMPAIRMENTS ASSOCIATED WITH CUTANEOUSMANIFESTATIONS

Data from Hurwitz S: Clinical Pediatric Dermatology. Philadelphia, WB Saunders, 1981.

Condition Cutaneous FindingsNeurofibromatosis Cafe au lait spots, axillary

freckling, cutaneousneurofibromata

Tuberous sclerosis Facial adenoma sebaceum,periungual fibromas, shagreenpatches, white spots, pretibialfreckles

Sturge-Weber syndrome Nevus flammeus in distribution offirst branch of trigeminal nerve

Ataxia telangiectasia Telangiectasias on face and upperchest, cafe au lait spots, seborrheicdermatitis

Incontinentia pigmenti Inflammatory vesicles, irregularverrucous lesions, swirls ofhyperpigmented areas onextremities and trunk, occasionalstreaks of hypopigmentation

syndromes like neurofibromatosis, tuberous sclerosis, Sturge-Weber syndrome, ataxia telangiectasia, orincontinentia pigmenti (Table 6) .

If a child has an unusual appearance, biologic family members should be examined either directly or by usingphotographs to determine any resemblance. If the child does not resemble anyone in the family, a new geneticmutation or autosomal recessive condition may be responsible. Examination of the skin of family members maybe helpful in conditions, such as tuberous sclerosis and neurofibromatosis. Children who are cute or who appearalert may still have significant neurologic impairment.

Neurologic

A thorough neurologic evaluation should be performed in all children who have neurologic impairments. [3] Forneonates the neurologic examination of the full-term infant outlined by Prechtl [31] has been used by many as thestandard examination. This has been modified by Brazelton and Nugent [5] to include indices of responsivenessand state regulation, such as the infant's ability to quiet himself or herself, and is useful to document the infant'scurrent level of functioning. Although the Brazelton Neonatal Behavior Assessment Scale may be a betterpredictor of subsequent neurologic outcomes than most traditional examinations, [34] no single evaluationperformed in the newborn period, especially if done outside the context of the family, can predictdevelopmental outcomes at childhood (except for infants who are neurologically devastated). A completeneurologic evaluation of the neonate should include assessment of cranial nerves; posture; muscle tone of theextremities; trunk and neck (head control); deep tendon reflexes; postural responses (lateral head righting); andprimitive reflexes (see later).

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Primitive Reflexes and Postural Patterns

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Table 7 outlines a number of primitive reflexes and postural responses useful in evaluating infants who have ormay have neurologic impairments. Primitive reflexes appear in neonates, then disappear over time. Theirabsence or their persistence beyond a certain period may indicate abnormalities of the CNS. The posturalreactions require more integration of sensory and motor functions and are somewhat more sensitive to damageof the nervous system than are the primitive reflexes.

Repeated Evaluations

As with motor milestones, a single evaluation of a child is not as useful in establishing a prognosis as are aseries of examinations over time. For example, although children who develop spastic cerebral palsy have astatic lesion of the brain, the neurologic examination often changes over time. These children may be hypotonicfor the first 6 to 9 months of life, then develop gradual hypertonicity. At 6 months of age as tone increases,adduction of the thumb (palmar thumb) occurs, followed in a month or two by scissoring of the legs when thechild is held upright. By 9 months of age, the child may have diffuse spasticity and hyperactive deep tendonreflexes. Dyskinetic patterns (chorea, athetosis) are generally not obvious until about 18 months of age. Ataxia(differentiated from the incoordination and motor delay of mental retardation) may not be apparent until evenlater.

As noted previously, observations of functional activities can provide critical insights into the child's abilities.For example, if a child has feeding difficulties, an actual feeding session should be observed. If aspiration issuspected, auscultation of the child's neck during swallowing [45] may provide clues to the mechanism ofswallowing. Talking with the older child, asking questions about interests, such as games and foods, andobserving the child's interactions with family members can help assess the child's cognitive abilities. Observinghow a child handles and plays with objects like tongue blades or toys can give a sense of the child's ability tointegrate fine motor, visual, and cerebellar functioning. For children who are ambulatory, observing the gait cangive clues to muscle tone, strength, cerebellar function, and their integration. Videotapes of the child walkingmay be useful to compare during subsequent visits, especially if the child has a degenerative condition or is atrisk for deterioration, such as the child who has meningomyelocele, and is at risk for developing tethering of thespinal cord. Formal gait analysis using computerized assessment [48] can be useful in planning surgery for thechild who has physical disabilities like spastic cerebral palsy.

Asking a child to walk on a line on the floor and then on their toes and heels (forced or stressed walking) can beused as a screen for balance and lower extremity strength. Posturing of the hands during

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TABLE 7 -- SOME PRIMITIVE REFLEXES AND POSTURAL REACTIONS Data from Futagi Y, Tagawa T, Otani K: Primitive reflex profiles in infants: Differences based on categoriesof neurological abnormality. Brain Dev 14:294, 1992, and Blasco P: Primitive reflexes: Their contribution to

the early detection of cerebral palsy. Clin Pediatr 33:394, 1994.

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Reflex andReaction Technique Reaction Significance *

Asymmetrical tonic neck response Rotate head to theside and hold for 15seconds

Arm on facial sideextends, arm onoccipital side flexes(fencing position)

Persistence after 6months of age isseen withchoreoathetotic andspastic cerebralpalsy

Truncal incurvation (Galant) With infant prone,scratch back incaudal direction 2-3cm to side of spine

Trunk curves towardside that was stroked

Persistence after 6months of age isseen withchoreoathetotic andspastic cerebralpalsy

Plantar grasp Press finger againstsole just below toes

Toes flex Persistence after 4months of age isseen withchoreoathetoticcerebral palsy

Suprapubic extension Press the skin overthe pubis

Both legs extend Persistence after 4months of age isseen with spasticcerebral palsy

Crossed extension Flex one leg Other leg extends,adducts, and rotatesinward

Persistence after 4months of age isseen with spasticcerebral palsy

Truncal support Hold infant aroundthe trunk andsuspend upright,touching feet ontable

Hips, knees, and legsshould extend so thatchild transientlybears weight; childthen relaxes tositting position

Absence of supportindicates hypotoniaor weakness;scissoring of legswith persistentextension can beseen with spasticity

Postural rections of righting, protection,and equilibrium

Child is seated andexaminer tilts childto one side

Head should righttoward the midline,arm should extend totable on side of tilt,arm and leg on sideopposite tilt shouldmove in oppositedirection

Delayed appearancebeyond 3 months ofage can indicatebrain injury

*Child's age is corrected for gestational age.

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such walking may be seen, which is normal in children less than 7 or 8 years of age, but may indicate motorincoordination in older children. Asking the child to perform rapid alternating movements of the hands andfingers can evaluate coordination. Synkinesias, or mirror movements of the other extremity, are normal below 8years of age. Finger-to-nose and Rhomberg testing can help estimate cerebellar, vestibular, and posteriorcolumn function.

Orthopedic

Many children who have neurologic impairments are at increased risk for developing orthopedic complications,such as joint contractures and scoliosis. A thorough orthopedic examination should include range of motion ofall joints using a goniometer. Ankle dorsiflexion should be determined with the knee extended and flexed (thefoot should be inverted to prevent motion at the talus). Table 8 lists tests that are useful in evaluating the hip.Hip flexion should be evaluated using the Thomas test, and abduction of the hip should be done with the hipsflexed and with the legs extended. The presence of hip dysplasia can be ascertained by examining forasymmetry of skin folds in the gluteal region, thighs, labia, and buttocks, and by performing the Barlow andOrtolani maneuvers in young children, the Galeazzi maneuver in children of all ages, and assessing forpositioning of the hips. The back should be assessed for kyphosis, excessive lordosis, and scoliosis. Theforward bending test with a scoliometer should be used in children who are cooperative. Evaluation of thechild's gait in the stance and swing phases can help determine structural problems, such as tibial torsion andcoxa valga, as well as joint contractures and pain. For example, a child who has lumbar levelmeningomyelocele and weakness of hip extensors and abductors walks with a lurch (Trendelenburg gait).

THE CHILD WHO HAS NEUROLOGIC IMPAIRMENT AND IS ACUTELY ILL

The most important question that the physical examination of an ill child should answer is: "How ill is thechild?" Children who are severely ill require emergency interventions. Evaluating the severity of illness in achild who has neurologic impairment, however, is not always easy. Criteria used to determine the severity ofillness in a child include level of consciousness (Table 9) , mental status, and interaction with the environment.These children, however, may already have impairment of these domains. Therefore, having a practitioner whoalready knows the child's baseline examine the child may be extremely helpful. In addition, information aboutthe child's typical status should be obtained from the parent(s).

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TABLE 8 -- ORTHOPEDIC TESTS USED TO EVALUATE HIP MOVEMENT AND DYSPLASIA Data from Hoppenfeld S: Physical Examination of the Spine and Extremities. Norwalk, CT,

Appleton-Century-Crofts, 1976, p 155; and Weinstein SL, Buckwalter JA (eds): Turek's Orthopaedics:Principles and Their Application, ed 5. Philadelphia, Lippincott, 1994, p 487.

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Test Technique SignificanceThomas test Child is supine with pelvis

level; flex one hip andbring thigh onto trunk.Observe other leg, whichshould lie flat on the table.

If opposite hip does notremain fully extended, hipflexion contracture ispresent. Estimate degreeof contracture by the anglebetween the table and thepatient's leg.

Ortolani maneuver Child is supine with hipsand knees flexed at 90degrees; examiner'smiddle finger is on greatertrochanter, thumb onlesser trochanter. Slowlyabduct hip with pressureon greater trochanter.

Palpable sensation or"klunk" indicatesreduction of subluxed ordislocated hip.

Barlow maneuver Child is supine with hipsand knees flexed at 90degrees; examiner'smiddle finger is on greatertrochanter, thumb onlesser trochanter. Withlegs in midabductionplace posterior pressureon the knee.

Palpable sensation or"klunk" indicatessubluxation or dislocationof hip.

Galeazzi (Allis) sign Child is supine with hipsand knees flexed, feet flaton the table, with malleolitouching. Observe level ofknees.

If knees are not at thesame level, the lower onemay be dislocated.

Pistoning or telescoping With knee and hipextended, hold lower legand push entire leg towardhip. Then pull in oppositedirection.

Dislocated hip moves inand out of the joint.

TABLE 9 -- LEVELS OF CONSCIOUSNESS

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Level CharacteristicAlertness Able to follow and attend with

vision or hearingConfusion, delirium Unable to maintain a coherent

stream of thought or action.Delirium is confusion accompaniedby sympathetic discharge (e.g.,pupillary dilatation)

Drowsiness Appears asleep but easily arouseswith verbal stimuli (or light touch ifhearing is impaired)

Stupor Appears asleep but does notrespond to verbal commands orlight touch. Does respond tonoxious stimuli, such as a cottonswab inserted into a nostril

Coma No response to noxious stimuli;may be sleeping coma, where theeyes never open, or waking comawhere arousal is present butwithout awareness or content

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Urinary Tract Infection

Many children who have neurologic impairment are at risk for developing urinary tract infections. Theseinclude children who have meningomyelocele, spinal cord injury, and other conditions like multiple sclerosisthat can lead to a neurogenic bladder, as well as those who have spastic cerebral palsy or severe immobility.Therefore, when these children present with fever or abdominal pain, an evaluation for urinary infectionsshould be performed.

Increased Intracranial Pressure, Ventriculitis

As mentioned previously, children who have shunted hydrocephalus may present with signs and symptoms ofincreased intracranial pressure, including headache and vomiting. Differentiating these symptoms fromgastroenteritis or other viral infections like influenza may be difficult. Palpation of the shunt valve may beunreliable. Therefore, the index of suspicion for shunt malfunctions should be high, and appropriateneurosurgical consultation and radiographic studies (CT scan of the head and shunt survey) should be obtainedif any question exists about its likelihood.

Paroxysms and Altered Levels of Consciousness

Children who have neurologic impairment often present acutely ill with seizures or altered level ofconsciousness. An exact description of their paroxysms as well as their level of consciousness should berecorded. A precipitating cause for the seizure should be pursued. Often stressful events, including enjoyableevents like birthday parties, can lead to seizures in these children.

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Despite the child's underlying condition, the differential diagnosis of seizures should always include treatableconditions, such as hypoglycemia; infection of the CNS; and metabolic abnormalities (like hyponatremia). Achild in status petit mal may present with altered level of consciousness without tonic-clonic activity. A childwho is postictal following unobserved seizures may have altered mental status because of the seizure. Othertreatable etiologies for diminished consciousness like hypothyroidism in a child who has Down's syndromeshould be considered. Because seizures may lead to head and neck injuries and head injuries may precipitate aseizure, a careful examination of the head and neck should be performed in all children who have seizures ordiminished consciousness.

SUMMARY

The formulation of a diagnosis in a child who has neurologic impairment should not (except in extremecircumstances) be made on the

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basis of a single finding. For example, the presence of delayed milestones, primitive or exaggerated reflexes,abnormal muscle tone, abnormal posture, abnormal neurologic examination, and temporal course should all beused to make the diagnosis of cerebral palsy. Furthermore, because each condition has a spectrum of disabilitiesfrom mild to severe involvement, determination of the child's abilities and impairments should be part of thediagnostic process. Because the child lives in a number of different environments, assessment of the child'sfunctional abilities and evaluation of the environments should be made. Finally, evaluations by specialists inphysical therapy, occupational therapy, speech therapy, psychology, special education, and nutrition may benecessary to complete the child's diagnosis.

The ability to examine the child over a period of time (i.e., continuity of care) allows the practitioner to providea more accurate prognosis for future development. It also enables easier diagnosis of the child when he or she isacutely ill. This also allows a more trusting relationship to develop with the parent and enhances the ability toinfluence the psychosocial conditions that affect outcomes. Finally, all these children should have carecoordination (case management) (i.e., someone who can ensure that they receive the care they need, withoutduplication) across all settings, including home, school, hospitals, and ambulatory facilities.

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