Detailed Neurologic Assessment of Infants and Children

14/5/2015
Detailedneurologicassessmentofinfantsandchildren
OfficialreprintfromUpToDate
www.uptodate.com2015UpToDate
Author
SureshKotagal,MD
SectionEditor
DouglasRNordli,Jr,MD
DeputyEditor
CarrieArmsby,MD,MPH
Alltopicsareupdatedasnewevidencebecomesavailableandourpeerreviewprocessiscomplete.
Literaturereviewcurrentthrough:Apr2015.|Thistopiclastupdated:May01,2015.
INTRODUCTIONChildrenwhopresentwithorwhoarefoundtohaveneurologicorneuromuscular
abnormalitiesonageneralphysicalexaminationshouldundergoacompleteneurologicassessment[1,2].The
elementsofacompleteneurologicalassessmentare:
Focusedclinicalhistory
Detailedneurologicalexamination
Additionalpartsofthegeneralphysicalexaminationthatarerelevanttochildneurology
Insomecases,developmentalscreeningtestsarealsohelpful.
Thesestepsaredetailedinthistopicreview.Theneurologicassessmentofneonatesandadultsarediscussed
separately.(See"Neurologicexaminationofthenewborn"and"Thedetailedneurologicexaminationinadults".)
THECASEHISTORYTheobjectivesoftakingaclinicalhistoryaretoestablishrapportandtrustwiththechild
andfamily,tounderstandthenatureoftheirhealthconcernsregardlessofwhetherornottheypertaintothe
nervoussystem,andtoanatomicallylocalizetheneurologicalsymptoms.
Inchildrenseenintheoutpatientsetting,historytakingisoftenfacilitatedbymailingaquestionnairetothefamily
inadvanceofthevisitthatincludesquestionspertinenttocurrentandpastillnesses,familyhistory,andgrowth
anddevelopment.Thefamilyisadvisedtocompletethequestionnaireinadvanceandbringittothedoctorvisit.A
skilledclinicianisoftenabletoarriveatadiagnosisbythetimeacompletehistoryhasbeentaken,andusesthe
examinationtoconfirmthediagnosisanddeterminetheextentofimpairment.
HistoryofpresentillnessTheclinicianshoulddocumentthedurationofsymptoms,whethertheyareconstant
orepisodic(asinatransientischemicattack,syncope,seizure,ormigraine),andwhethertheyarestatic,
progressive,orresolving.Inaddition,thehistorymaysuggestlocalizationtoaspecificanatomicalregion.As
examples:
Involvementofthecerebralcortexshouldbesuspectedinpatientswithcognitivedysfunctionand/or
seizures.
Involvementofthebrainstemmaybeaccompaniedbydoublevision,dizziness,dysphagia,hoarsenessof
voice,orimpairedequilibrium.
Cerebellardisordersmaybeassociatedwithalteredequilibriumandcoordinationinthetrunkorextremities.
Disordersofthespinalcordmayresultindissociationofmotorandsensoryfunctionbelowacertain
altitudinalplane,and/orbowelandbladderdysfunction.
Disordersofthemotorunit(anteriorhorncells,peripheralnerve,neuromuscularjunction,muscle)shouldbe
suspectedinpatientswithweaknessmanifestedbyinabilitytoclimbstairs,raisethearms,grasp,stand,or
walk.
Itisimportanttoaskquestionsaboutwhether,andtowhatextent,theneurologicaldisorderhasimpacted
cognition,behavior,andlanguagethedegreetowhichactivitiesofdailylivinghavebeencompromisedandwhat
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rehabilitativemeasureshavebeenputinplace.Itisacommonpracticetoinquireaboutactivitiesahandicapped
childcannotcarryout.Itisequallyimportanttoaskaboutactivitiesthepatientcandoandenjoybecausethese
skillscanbetargetedforfurtherdevelopment.
MedicationsTheclinicianshouldnoteanycurrentmedications(andalternativemedicinesornutritional
supplements),withtheformofthemedication(capsule,tablet,suspension),strengthinmilligrams/grams,
frequency,androuteofadministration.Inaddition,themedicationsthatthechildhastakeninthepast,aswellas
theresponsetothesemedications,shouldbenoted.
AllergyhistoryAllergiestomedicationsandthenatureoftheallergicreactionshouldberecorded.This
informationmayinformthechoiceoftherapies.
FamilyhistoryManychildhoodneurologicaldisordersareinherited.Thus,theclinicianshouldinquireaboutthe
numberofsiblings,theirgenderandhealth,theageandhealthoftheparents,andthefamilyhistoryofneurologic
andsystemicdisordersandofconsanguinity.Ifotherfamilymembershaveneurologicdisease,apedigreechartis
oftenhelpful.
Pregnancy,perinatal,andneonatalhistory
Theprenatalhistoryshouldincludethefollowingelements:
Mother'sageatthetimeofpregnancy
Historyofmotherspreviouspregnancies(gravida,para,miscarriages,andgestationalageatthetimeof
miscarriages)
Prenatalexposuretoprescriptionandillicitdrugs,alcohol,radiation,andinfections,andthefetusgestational
ageatthetimeofexposure
Amountofmaternalweightgainduringthepregnancy(becauseexcessivematernalweightgainmay
accompanypreeclampsiaandcauseplacentalinsufficiencypoormaternalweightgainmaybeassociated
withfetalgrowthrestriction)(see"Weightgainandlossinpregnancy")
Whetherfetalmovementswerereduced(asseenininfantilespinalmuscularatrophy)orexaggerated(as
seeninintrauterineseizuresassociatedwithpyridoxinedependency)
Resultsofprenatalheadultrasoundstudies
Thelaboranddeliveryhistoryshouldincludethefollowing:
Gestationalageatthetimeofonsetoflabor,andwhetherlaborwasspontaneousorinduced
Fetalpresentation,lengthofthelabor,andwhethervacuumorforcepsextractionwasused
APGARscoresat1,5,and10minutes,respectively(see"Overviewoftheroutinemanagementofthe
healthynewborninfant",sectionon'Apgarscore')
Whethertheinfantneededresuscitation
Theinfantsweight,length,andheadcircumferenceatbirth.
LowAPGARscoreshavesomepredictivevalueforthesubsequentdevelopmentofcerebralpalsy.Among
newbornsweighingmorethan2500gramsinaNorwegianregistrystudy,afiveminuteAPGARscoreof0to3
wasassociatedwitha125foldincreasedriskofcerebralpalsyascomparedwiththosewithascoreofmorethan
8[3].SimilarresultswereseenamongnewbornswithnormalbirthweightintheNationalCollaborativePerinatal
Project,inwhomtheriskforcerebralpalsywas4.7percentforthosewithafiveminuteAPGARscoreof0to3,
ascomparedwith0.2percentforthosewithscoresbetween7and10[4].
Significanteventsinthefirstweekoflifeincludetheneedforventilatorysupport,oxygenadministration,
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resuscitation,artificialhypothermia,exchangetransfusion,statusepilepticus,metabolicderangements,feeding
difficulties,andcoma.Impairedsuckingorswallowingandsleepwakedifficultiesinthefirstmonthoflifeare
subtlemarkersofbraindysfunction.
DevelopmentalhistoryTheclinicianshouldrecordthechildsageatacquisitionofdevelopmentalmilestones,
suchassocialsmiling,developingadequateheadcontrol,gurgling,reachingoutforobjects,rollingover,beingable
tomaintainasittingposition,comingtoasittingpositionindependently,crawling,walkingindependently,babbling,
anduseoffirstwords,phrases,andsentences(table1)[5].
Someparentsareunabletorecalltheexactageatwhichthesemilestoneswereachieved.Theymay,however,
haveagoodrecollectionofeventssurroundingthechild'sfirstbirthdaythus,onecanhelpjogtheirmemoryby
askingaboutthechild'sabilitiesatthattime.Theexaminershouldbeawarethat,inneurodegenerativedisorders,
aplateauindevelopmentmayprecedethestartofdevelopmentalregression.
Earlyidentificationofchildrenwithautismspectrumdisordersisaccomplishedthroughroutinedevelopmental
surveillanceatwellchildvisits,withadditionaldevelopmentalscreeningtestsatspecificvisits,orwhen
developmentalconcernsareraised[6].Cluestothepresenceofautisminclude:nobabblingorgesturingbyage
12months(eg,wavingbyebye),lackofsinglewordsby16months,nospontaneoustwowordsby24months,
andlossofpreviouslyacquiredspeech.(See"Autismspectrumdisorder:Surveillanceandscreeninginprimary
care".)
ReviewofothersystemsTheclinicianshouldinquireaboutunderlyingmedicalconditions,someofwhichmay
haveneurologicsymptoms.Ifanydisorderispresent,theclinicianshoulddocumentthesymptoms,treatment,
andstatusofthesedisorders(ie,resolving,static,ordeteriorating).
Manystatesorprovincesconductcomprehensivenewbornscreens.Aninquiryintotheresultsofthenewborn
screenmaybehelpful.Althoughscreeningprogramsaredesignedforhighsensitivity,falsenegativeresultsmay
occur,particularlyinprematureormedicallycomplicatedinfants.Someformsofcongenitalhypothyroidismarenot
consistentlycapturedbynewbornscreening,sotestingshouldberepeatedifthereisaclinicalsuspicionforthis
disorder.(See"Newbornscreening"and"Clinicalfeaturesanddetectionofcongenitalhypothyroidism",sectionon
'Newbornscreeningprograms'.)
Infantsandchildrenwithcerebralpalsyoftenhaveavarietyofproblemsattributabletotheirneurologic
dysfunction,includingdysphagia,gastroesophagealreflux,chronicconstipation,respiratorydifficulties,chronic
aspirationintothetracheobronchialtree,sleepinitiationandmaintenanceproblems,impairedambulation,scoliosis,
deformitiesaroundjointsoftheextremities,andstrabismus.Insuchchildren,theclinicalhistoryshoulddocument
theircurrentmanagement,includingwhethertheyareusingafeedinggastrostomy,spineinstrumentation,
intrathecalbaclofenpump,vagusnervestimulator,ororthotics.(See"Clinicalfeaturesofcerebralpalsy".)
NEUROLOGICEXAMINATION
GeneralconceptsWhenexaminingtoddlers,theinitialphaseofinspectionisbestconductedwhilethechildis
seatedintheparent'slap.Thisminimizesapprehension,whichtendstoaltertheassessmentofhighercortical
functions,muscletoneandtendonreflexes.Itisalsoadvisabletodeferuncomfortableandanxietyprovoking
proceduresuntiltheendofthesession,suchasfunduscopy,otoscopy,andcheckingofthegagreflex.
Acollectionofvideosdepictingelementsoftheneurologicalexaminationininfantsandchildrencanbeviewedon
thePediatricNeuroLogicExamwebsite[7].
HighercorticalfunctionsObservationsofinfantsandtoddlersduringplay(eg,whilestackingblocksor
playingwithanageappropriatetoy)canprovidevaluableinformationaboutthepatient'sattentionspan,grossand
finemotorcoordination,andproblemsolvingabilities.Inaddition,thefollowingageappropriatequestionshelpto
assessthehighercorticalfunctionsandyieldcluestospecificlearningdisabilities,attentiondeficitdisorder,and
mildmentalretardation(table2):
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Ininfantsof6to12monthsage,awarenessofthesurroundings,interactionwiththeexaminer(socialsmile,
inquisitiveness,andhabituation),cooingandgurgling,andmakingofnonspecificmamaanddadasounds
shouldbeassessed.
By12to20months,thechildshouldhavedevelopedasixtoeightwordvocabulary,shouldbeableto
comprehendsimpleonestepcommands,andpointtotwotothreebodyparts.
By24months,thepatientshouldbeabletonametwotothreebodyparts,andusephrasesandsimple
sentences.
Theconceptofself(referringtooneselfasI,knowledgeofone'sownnameandage)appearsbetween24
and30months.
By36months,thechildisabletocountthreeobjects,understandprepositionalconcepts(eg,underand
over),askquestions,andnamethreecolors.
Theabilitytocopyasquareandacrossappearsby48months,tocopyatrianglebyagesixyears,anda
diamondbyagesevenyears.
Afirstgrader(generallyagefivetosix)canspellsimplemonosyllabicwordsandcountto10.
Bysecondgrade,thechildshouldbeabletodosimpleadditionandsubtraction,andreadpolysyllabicwords.
Beyondtheageofeighttonineyears,theconceptsofreading,spelling,calculationability,general
knowledge,geography,logic,andreasoningevolveexponentially.
CranialnervesEachcranialnerve(CN)istestedbyperformanceofaspecificmotororsensorytest.Testing
ininfantsisoftenbyobservationforspecificmovementsandresponses,andislessreliable.Multipleobservation
sessionsmaybehelpful.
I(olfactory)Thesenseofsmell,mediatedbyCNI,canbetestedbyabilitytodetectalcoholorpeppermint.
Thissensemaybeimpairedafterclosedheadinjuryandininfantswitharhinencephalyholoprosencephaly.
II(optic)ThefunctionofCNIIisassessedbythefollowingtestsofvisualfunction:
TestingvisualacuityInaninfant,visualacuitycanbetestedbyobservingtheinfantreachforobjectsofvarying
size.Infantolderthansixmonthsofagewillusuallyreachforscrapsofpaperlessthan5mminsizewhenthey
areplacedonadarkbackground.Standardtestscanbeusedinolderchildrenwhocanrecognizeobjects,letters,
ornumbers.Thenarrow,alternatingblackandwhitestripespaintedontoarotatingdrumshouldelicitoptokinetic
nystagmus,withquickjerksoftheeyesinadirectionoppositetothemovementofthedrumortape.(See"Visual
developmentandvisionassessmentininfantsandchildren",sectionon'Visualacuitytests'.)
VisualfieldsVisualfieldscanbetestedbyintroducingobjectsintotheperipheralfieldofvisionasthechild
focusesonanobjecthelddirectlyinfrontofhimorher.Thelateralandsuperiorfieldsofvisioncanbeassessed
moreeasilythancanthenasalfields.(See"Thepediatricphysicalexamination:HEENT",sectionon'Vision'.)
Pupillarylightresponse(directandconsensual)AnormalpupillarylightreflexrequiresCNIIandIII.An
asymmetric,constrictedpupilinassociationwithptosis,enophthalmos,andanhidrosisisseenwithipsilateral
Horner'ssyndromeasaresultofsympatheticdenervationofthepupil.(See"Horner'ssyndrome".)
FunduscopyFunduscopyofchildrenrequirespatience,andisbestaccomplishedinadimlylitroomwiththe
patientgazingstraightahead.Theparentorcaretakercanberequestedtokeepabrightobjectinthehand,upon
whichthechildisaskedtofocus.Theabilityofthecliniciantoobtainanadequatefunduscopicexaminationis
oftencompromisedbylackofpatientcooperation,nystagmus,orsmallpupils.Inthiscase,consultationshouldbe
soughtwithanophthalmologist.
Theopticdiscisnormallypinkincomplexion(picture1).Opticdiscpallormaysuggestatrophy(picture2).
(See"Congenitalanomaliesandacquiredabnormalitiesoftheopticnerve",sectionon'Atrophy'.)
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Hypoplasiaoftheopticdisc(normalcomplexion,butsmallsize)mayaccompanyseptoopticdysplasia,
whichcanbeassociatedwithhypothalamicinsufficiencyandhypopituitarism.(See"Congenitalanomalies
andacquiredabnormalitiesoftheopticnerve",sectionon'Hypoplasia'.)
Blurringoftheopticdiscmarginsalongwithlossoftheopticdisccupandvenouspulsationsisseenin
papilledema(picture3).About30percentofsubjectslackvenouspulsationsevenintheabsence
papilledema.(See"Congenitalanomaliesandacquiredabnormalitiesoftheopticnerve",sectionon
'Papilledema'.)
Acherryredmacularspot(picture4)isseeninlysosomalstoragedisorders,suchasTaySachsdisease
andNiemannPickdisease.(See"PrenatalscreeningforgeneticdiseaseintheAshkenaziJewish
population",sectionon'TaySachsdisease'and"OverviewofNiemannPickdisease".)
Chorioretinitis,whichsometimesappearslikepeppersprinkledonaredtablecloth,canaccompany
congenitalcytomegalovirusinfections.(See"Congenitalcytomegalovirusinfection:Clinicalfeaturesand
diagnosis".)
Flameshapedretinalhemorrhages(picture5)mayaccompanytheshakeninfantsyndrome.(See"Child
abuse:Epidemiology,mechanisms,andtypesofabusiveheadtraumaininfantsandchildren",sectionon
'Retinalhemorrhages'.)
Retinaldegenerationmayaccompanymitochondrialdisorderssuchasthesyndromeofneurologicmuscle
weakness,ataxia,andretinitispigmentosa(NARP).(See"Mitochondrialmyopathies:Clinicalfeaturesand
diagnosis",sectionon'NARP'.)
III(oculomotor),IV(trochlear),andVI(abducens)CNIII,IV,andVIarerequiredforextraocular
movementsinthehorizontal,vertical,andobliqueplanes,andcanbetestedbyassessingthechildsabilityto
trackabrightlycoloredtoyorsoftlight.
Thecorneallightreflexisahelpfultesttodetermineeyealignment(strabismusoresotropia).Whenalightsource
ishelddirectlyinfrontofapatientwhoisstaringstraightahead,normaleyealignmentwillrevealasymmetric
reflexinthecenterofeachpupil(figure1).
Paralysisofextraocularmusclesleadstoeyedeviationatrest[2]inthefollowingpatterns:
Deviationdownandout:paralysisoftheinferiorobliquemuscle(CNIII)(see"Thirdcranialnerve(oculomotor
nerve)palsyinchildren")
Deviationlaterally:paralysisofthemedialrectus(CNIII)
Deviationupwards:paralysisoftheinferiorrectus(CNIII)
Deviationdownandinwards:paralysisofthesuperiorrectus(CNIII)
Deviationupwardsandout:paralysisofthesuperioroblique(CNIV)(see"Fourthcranialnerve(trochlear
nerve)palsyinchildren")
Deviationinwards:paralysisofthelateralrectus(CNVI)(see"Sixthcranialnerve(abducensnerve)palsyin
children",sectionon'Clinicalmanifestations')
Ptosis(droopingoftheuppereyelidandencroachmentonthepupillaryaperture)mayaccompanysympathetic
paralysisfromlesionsofthecranialnerveIII,Hornersyndrome,myopathies,myastheniagravis,andeye
structurallesions(eg,neurofibroma).(See"Overviewofptosis".)
Optokineticnystagmus(OKN)isanormalgazestabilizingresponseelicitedbytrackingamovingstimulusacross
thevisualfieldandcanbehelpfulasacrudeassessmentofthevisualsystem.AssessmentofOKNcanbe
performedusinganOKNdrumorapieceofpaperorclothwithalternatingblackandwhitestripesthatisrapidly
movedacrossthepatientsvisualfieldatreadingdistance.Asthestimulusismovedfromlefttoright,normally
sightedpatientswillshowquick,jerkymovementstotheleftsideandviceversa.Alternatively,amirrorplacedin
frontofthepatient'seyescanbetiltedindifferentdirectionstoelicitocularpursuitmovements.OKNisdependent
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upontheintegrityofthevisualsystem,especiallyvisualperception,andpursuitandsaccadiceyemovement
[8,9].BilateralabsenceofOKNininfancyorearlychildhoodmaysuggestblindness,whileunilateralabsencemay
suggestahemisphericlesion.NormalOKNinanindividualwithacomplaintofvisionlosssuggestshysterical
blindness.(See"Visualdevelopmentandvisionassessmentininfantsandchildren"and"Approachtothepediatric
patientwithvisionchange",sectionon'Conversiondisorder'.)
Abnormaleyemovementsmaybemanifestationsofanunderlyingdiseaseordisorder:
Opsoclonusaccompaniesoccultneuroblastoma.Itischaracterizedbysuddenchaoticburstsofeye
movementsinthehorizontal,vertical,oblique,orrotatorypositions,oftenassociatedwithmyoclonus.
Opsoclonusisanonmetastaticmanifestationofmalignancy.
UpgazeparesismayaccompanyParinaudsyndromeowingtopressureonthepretectalregionfromamass
lesion.ImpaireddowngazemaybeseeninchildrenwithNiemannPickTypeCdisease,andcanleadto
difficultygoingdownsteps.
OculomotorapraxiamayaccompanyJoubertsyndromeoroculomotorapraxiaataxiasyndrome.Itis
characterizedbyadelayedinitiationoftheeyemovementandjerkypursuitmovementsthatare
accompaniedbycompensatoryheadthrusting.
V(trigeminal)ThesensoryfunctionofCNVcanbetestedbytheresponsetolighttouchovertheface
(useatissue)andbysensationonthecorneaandconjunctiva.(See'Superficialreflexes'below.)Motorfunctionof
CNVistestedbyassessingmassetermusclestrength(askingthechildtoopenthejawagainstresistance).
VII(facial)ThefunctionofCNVIIcanbeassessedbyobservingforsymmetryofthenasolabialfolds,
assessingeyelidmusclestrength,andtheabilitytowrinkletheforeheadsymmetrically.Inaddition,CNVII
mediatestastesensationovertheanteriortwothirdsofthetongue,andcanbetestedbyapplyingtwoorthree
dropsofaconcentratedsaltsolutiontothelateraledgeofeachhalfofthetongueusingacottonapplicator,while
thetongueiskeptprotruded.
WithnuclearandinfranuclearlesionsofCNVII,boththeupperandlowerhalvesofthefaceareparalyzed,
whereaswithsupranuclearlesions,onlythelowerhalfofthefaceisaffected.(See"Facialnervepalsyin
children".)
VIII(vestibulocochlear)Ininfants,hearingistestedbymakingasoftsoundclosetooneear,suchasfrom
rustlingofpaper.Theinfantshouldshowanalertingresponse.Bytheageoffivetosixmonths,theinfantmay
alsobeabletolocalizethesoundtoaspecificquadrant.Theprocedureisthenrepeatedfortheoppositeear.In
cooperativeschoolagechildren,speechdiscriminationcanbetestedbysoftlywhisperinganumberaboutonefoot
fromtheear.ThetraditionalRinneandWebertestscanbeusedaswellinolderchildren.(See"Hearing
impairmentinchildren:Evaluation",sectionon'Officehearingtests'.)
Poorheadcontrol,truncalunsteadiness,gaitataxia,nausea,vomitingandhorizontalnystagmusmayindicate
vestibularsystemdysfunction.
IX(glossopharyngeal)andX(vagus)CNIXandCNXareresponsibleforswallowingfunction,movement
ofthesoftpalate,andareoftentestedbyelicitingagagreflex.Salivarydroolingorpoolingofsalivaalsosuggests
dysfunction.HoarsenessofthevoicecanbecausedbyCNXdysfunction.
XI(spinalaccessory)CNXImediatesmotorfunctioninthetrapeziusorsternomastoidsitsfunctionis
usuallyassessedbyelevationoftheshouldersandturningoftheneckagainstresistance.Thepatternof
weaknesscausedbyCNIXdysfunctiondependsonwhetherthelesionisperipheralorcentral.(See"Thedetailed
neurologicexaminationinadults".)
XII(hypoglossal)FunctionofCNXIIinachildoradolescentistestedbyaskingthepatienttostickout
theirtonguenormallythetongueshouldremaininthemidline.InpatientswithperipherallesionsofCNXII,the
tonguepointstowardsthepareticside.CNXIIdysfunctioncanalsocausefasciculations(slowripplelike
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movements)inthetongue,andoromotorapraxia.Fasciculationsarebestobservedwiththemouthopenandwith
thetonguekeptimmobilewithinthemouth.
Motorsystem
PostureandmovementsAbnormalitiesaresuggestedbythefollowingobservations:
Asymmetryatrestininfants.
Opisthotonus(abrainstemreleasephenomenonduetobilateralcerebralcorticaldysfunction).(See
"Neurologicexaminationofthenewborn",sectionon'Hypertonia'.)
Abductedhipsorfrogleggedposturethataccompanieshypotonia.(See"Neurologicexaminationofthe
newborn",sectionon'Hypotonia'.)
Fistingofthehandorholdingthethumbadductedacrossthepalmduringquietwakefulness(suggests
corticospinaltractinvolvement).Closureofthehandduringsleepisnormal.
Tremor(rhythmic,fineamplitudeflexionextensionmovementsofthedistalextremity).
Myoclonus(quick,nonstereotypedjerksaroundasegmentofthebody).(See"Hyperkineticmovement
disordersinchildren",sectionon'Myoclonus'.)
Athetosis(slow,sinuousmovementofthedistalextremitywithpronationofthedistalextremity,generally
duetoacontralateralputaminallesion).(See"Hyperkineticmovementdisordersinchildren",sectionon
'Chorea,athetosis,andballismus'.)
Chorea(rapid,quasipurposive,nonstereotypedmovementsofasegmentofthebodythatisgenerally
proximal).(See"Hyperkineticmovementdisordersinchildren",sectionon'Chorea,athetosis,and
ballismus'.)
Tics(highlystereotypedandrepetitivemovements).(See"Nonepilepticparoxysmaldisordersinchildren",
sectionon'Ticsandstereotypies'.)
Muscleatrophy,pseudohypertrophy(bulkyappearancebutwithweakness),andfasciculations(ripplelike
movementsofthemusclesthataccompanydegenerationofanteriorhorncells).Muscleatrophyimplies
decreasedmusclebulk.Itmaybesegmentalorgeneralized,andmaybeduetoaneuropathy,myopathy,or
disuse.(See"Etiologyandevaluationofthechildwithmuscleweakness",sectionon'Muscleexamination'.)
ToneandstrengthMuscletoneistheresistancefeltuponpassivemovementofapartofthebody.Inthe
extremities,itisassessedbyplacingajointthroughitsfullrangeofmovement.Hypotoniaischaracterizedby
decreasedresistancetopassivemovementandhyperextensionatthejoints.Increasedtonethatisspasticin
nature(abnormallengtheningshorteningreactiontostretchthathasthefeelofaclaspknife)tendstoaccompany
pyramidaltractlesions.Increasedtonethatischaracterizedbymusclerigidity(hasaleadpipeorcogwheel
feelduringtherangeofmotion)suggestsextrapyramidallesions.
Weaknessiselicitedbyaskingthepatienttomoveapartofthebodyagainstresistance(gravity,orgravityplus
resistanceimposedbytheexaminer).TheMedicalResearchCouncilofGreatBritainsuggestsgradingweakness
accordingtothefollowingscale:
Grade0/5:Nomusclemovementatall
Grade1/5:Presenceofaflickerofmovement
Grade2/5:Movementwithgravityeliminated(eg,acrossthebedsheet)
Grade3/5:Movementagainstgravity
Grade4/5:Movementagainstgravityandsomeexternallyappliedresistance
Grade5/5:Movementagainstgravityandgoodexternalresistance(normal)
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Distalweakness(symmetricorasymmetric)generallyaccompaniesperipheralneuropathy,whileproximalmuscle
weakness(generallysymmetric)isseeninmyopathies.Patientswithproximal(hipextensor)muscleweakness
mayexhibitaGower'ssign:whenaskedtocometoastandingpositionfromsittingonthefloor,thepatientwill
initiallypropthehandsagainstthefloororthelowerextremitiesforsupport.
Assessmentforthepronatordriftisausefulmethodofdetectinguppermotorneuronweakness[10].Initially,the
childisaskedtoextendtheupperextremitieswithpalmsdown.Thechildisthenaskedtoclosetheeyes,and
rotatetheextendedarmssothatthepalmsarefacingupwards.Duringthisturningmaneuverwiththeeyes
closed,apatientwithuppermotorneuronweaknessmaypulltheelbowdownandin.
CoordinationPatientswithcerebellardysfunctionhavedifficultyinregulatingtherateandrangeofmuscle
contraction(knownasdysmetria),whichmaymanifestasnystagmus,intentiontremor,scanningspeech,truncal
orgaitataxia,orreboundphenomenon.Totestforreboundphenomenon,thepatientflexesthearmagainst
resistanceofferedbytheexaminer,thentheexaminerabruptlyreleasestheresistance.Inreboundphenomenon,
thepatientisunabletostopthemusclecontraction.
Dysmetriacanbeassessedwithfingertonosetest:whenseatedwiththeelbowsfullyextendedandthearmsin
ahorizontalplane,thepatientisaskedtotouchtheindexfingertohisnoseandthenreturntothestartingposition.
Cerebellardeficitswillimpairperformanceonthistest.
SensorysystemAsensoryexaminationinyoungchildrenisoftenimprecise,andonlygrossdeficitscanbe
detected.Informationobtainedfromsensorytestinginachildbelowfivetosixyearsofagecanbeunreliable,and
mayneedconfirmationduringasecondexaminationsession.
Inchildrenolderthanfivetosixyears,sensoryfunctionisevaluatedinthesamemannerasinanadult.(See"The
detailedneurologicexaminationinadults".)
Vibrationsensetestingisperformedwitha128or256Hztuningfork.Afteravibratingtuningforkhasbeen
appliedagainstabonyprominenceintheupperorlowerextremity,thevibrationshouldbeintermittently
stoppedtocheckwhetherthechildisrespondingtotheactualvibration,orjusttothecontactofthetuning
forkagainsttheskin.Impairmentofvibrationsensemaysuggestalargefiberperipheralneuropathyordorsal
spinalcolumndysfunction.
Jointsenseischeckedbyaskingthepatienttoindicate(firstwitheyesopen,thenwitheyesclosed)whether
thegreattoeorthethumbhavebeenpassivelymovedbytheexaminerupwardsordownwards.Jointsense
canalsobetestedwiththeRombergtest:Thepatientisaskedtostandupright,keepingbothfeettogether
andclosetheeyes,withtheexaminerreadytocatchthepatientincaseofafall.Patientswithpreserved
dorsalcolumnfunctionwillcontinuetomaintainstablebalancewitheyesclosed,whilethosewithdorsal
columndysfunctionwilltendtostaggerandfall(positiveRombergsign).
Lighttouchistestedbycheckingresponsetoticklingortoperceptionoftheapplicationofacottonwispon
totheskin.Pinprick,andcoolandwarmstimuliareusedforcheckingofthesmalldiameterperipheralnerve
fibersandofthespinothalamictracts.Sincepinpricktestingandtemperaturetestinggivesomewhatsimilar
informationaboutspinothalamictractfunction,thepinprickmaybeomittedinyoungerchildreniftemperature
sensationisnormal.Somecommonsensorylandmarksincludetheplaneofnipple(T4segment),umbilicus
(T10segment)andperianalregion(S45).Ausefulreferenceformotorandsensoryhasbeenpublishedby
theMedicalResearchCouncilofGreatBritain[11].
Testingofcorticalsensoryfunctionconsistsoftwopointdiscrimination,stereognosis(detectingtheshapeof
anobjectbytouch)andgraphesthesia(recognizingwritingontheskin).Tactilestimuliareprovidedontothe
volaraspectofthefingersfortwopointdiscriminationandoverthepalmofthehandforstereognosisand
graphesthesia.Theresultsmaybeasymmetricbetweentheleftandrightsidesinpatientswithcerebral
corticallesions,suchasporencephalyorinfarcts.Foraccurateinterpretationoftestsofcorticalsensation,
theprimary,peripheralsensationneedstobepreserved.
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TendonreflexesThejaw,biceps,triceps,brachioradialis,patellar,andanklearecommonlytestedtendon
reflexes,andallofthesecanusuallybetestedininfantsandchildren.Thejointunderconsiderationshouldbeat
about90degreesandfullyrelaxed.Inpatientswithcerebralpalsy,exhortationstorelaxmayparadoxically
increasecontractionofthemuscles,andshouldthusbeavoided.Instead,thepatientshouldbeputateaseduring
reflextestingwithconversation.
Toelicitthereflex,lettheheadofthereflexdropontothetendonatthefollowinglocations:
Jawwiththemouthheldpartiallyopenandexaminersfingerplacedoverthechin,thefingerislightly
tappedwithareflexhammertodisplacethemandibledownwards.Thiselicitscontractionofthemandible
andslightclosureofthemouth.
Bicepsjustanteriortotheelbow
Tricepsjustposteriortotheelbow
Brachioradialisjustabovethewrist,ontheradialaspectoftheforearm
Knee(patellar)justbelowthepatella
Ankle(Achilles)justbehindtheankle
Theelicitationoftendonreflexesprovidesinformationaboutmultipleaspectsofthenervoussystem.Findingscan
beinterpretedasfollows:
Absentordiminishedtendonreflexesthisgenerallyindicatesinterruptionofthemusclestretchreflexarcat
thelevel.Sincetheafferentimpulsesgeneratedaftertappingatendonwithreflexhammerarecarriedvia
largediameterfibers,theabsenceofatendonreflexcouldalsosignifyinvolvementoflargediametersensory
fibersinaperipheralnerve.
Exaggeratedtendonreflexesthisgenerallyindicatesdisinhibitionofthemotorunitsowingtoapyramidal
tractlesion.Whenthepatellarreflexiselicited,spreadtotheoppositesideintheformofacrossedadductor
response(contractionofthecontralateralhipmuscle),orcontractionoftheplantarflexuresofthefootare
consideredexaggeratedandabnormal.Similarly,clonus(rhythmicmusclecontractionselicitedbythe
stimulus)isexaggeratedandabnormal.
Asymmetrictendonreflexesthismayindicateacerebralhemisphericlesion.Asymmetryismosteasily
detectedwithagentlestimulus.
Differencesbetweentendonreflexesintheupperandlowerbodythismaysuggestaspinalcordlesion.As
anexample,thejawjerkistheonlytendonreflexthatismediatedabovetheplaneoftheforamenmagnum
thus,ifthejawjerkisofnormalamplitudebutthebicepsandothertendonreflexesareexaggerated,this
mightbeacluetoacraniovertebraljunctionlesion.
DevelopmentalreflexesDevelopmentalreflexes(alsoknownasprimitivereflexes)appearatacertaintime
duringthecourseofbraindevelopment,andnormallydisappearwithprogressivematurationofcorticalinhibitory
functions.Theyaremediatedatsubcorticallevels.Assessmentofdevelopmentalreflexesisimportantinthe
newbornperiodandduringinfancy[12,13].Developmentalreflexesareabnormalif:
Theyareabsentatanagewhentheyshouldnormallybepresent
Theyareasymmetric,suggestingunilateralweakness
Theypersistbeyondatimetheyshouldhavenormallyresolved,asthissuggestsimpairedmaturationof
descendingcorticalinhibitoryprojections.
Commondevelopmentalreflexes,theirdescriptions,andtimeofappearanceandresolutionarelistedinthe
followingtable(table3).(See"Neurologicexaminationofthenewborn",sectionon'Developmental'.)
SuperficialreflexesSuperficialreflexescanbeelicitedbylightstimulationoftheplantar,conjunctival,
abdominal,andcremasterareas.
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Theplantarreflex(S1)iselicitedbystrokingtheplantarsurfaceofthefootusingapointedbutnotsharp
object(eg,themetalendofareflexhammer).Thestrokeisfromalateraltomedialdirection,posteriorto
anterior,stoppingshortatthebaseofthegreattoes.Thenormalresponseisoneflexionofalltoes.Patients
withcorticospinaltractlesionsmanifestanextensorplantarresponse(Babinskisign),whichischaracterized
byextensionofthegreattoeandfanningofothertoes.
Fortheconjunctivalreflex,gentlytouchingawispofcottonortissuetothesurfaceoftheconjunctivawill
elicitaneyeblink.TheafferentloopofthereflexisviacranialnerveV,whiletheefferentloopisthroughthe
facial(VII)nerve.(See'III(oculomotor),IV(trochlear),andVI(abducens)'above.)
Thesuperficialabdominalreflexesareelicitedintherightandleftupperabdominalquadrants(T8,9)andalso
intheleftandrightlowerabdominalquadrants(T11,12).Strokingofabluntmetalobject(eg,themetalend
ofareflexhammer)inthesequadrantsinamedialtolateraldirectionelicitscontractionoftheabdominal
muscles.Abdominalreflexesmaybelostincaseofapyramidaltractlesion.
Thecremastericreflex(L12)iselicitedbystrokingthemedialaspectoftheupperthigh,whichelicits
contractionofthecremastermuscleandelevationofthetestis.
GaitThegaitisbestassessedbyobservingthepatientwalkbarefooteddownalongcorridorwiththelegsand
feetexposed.
Circumductionofalowerextremitymayindicatespasticity,andiscommonlyobservedinhemiparesis
Abroadbased,ataxicgaitmayaccompanyacerebellardisorder
Ahighsteppagegaitsuggestsperipheralneuropathy
Patientswithdystoniafrequentlyshownormalpostureofthefeetatrestbutturntheirfeetinwardsandwalk
ontheouteredgesofthefeet
Myopathies,suchasDuchennemusculardystrophy,maybeassociatedwithawaddlinggait
SpineThespineshouldbeexaminedalongitsentirelengthforfindingsthatmightsuggestanunderlying
congenitalspinalcordanomaly,suchastetheredcordsyndromeorspinabifidaocculta(eg,amidlinetuftofhair,
dermalsinustract,orlipoma).Grosslesions(eg,meningoceleandmyelomeningocele)willofcoursebereadily
visualized.(See"Pathophysiologyandclinicalmanifestationsofmyelomeningocele(spinabifida)".)
Patientswithmusculardystrophymaydisplaylumbarlordosis.Kyphoscoliosismayaccompanydegenerative
disorders,suchasFriedreich'sataxiaandmusculardystrophies.Localizedpointtendernessoverthespinemay
suggestunderlyingintervertebraldischerniation,inflammation,fracture,orneoplasticprocess.Therangeofmotion
ofthespineshouldbeevaluatedatalllevelswhenindicated.
HeadThegrowthinsizeoftheheadisanindirectmarkerforincreaseinsizeofthebrain,whichmeasures
approximately450gatbirthand1200gbythreetofouryearsofage.
Theoccipitofrontalheadcircumference(OFC)ismeasuredusingapaperorclothtapethatisplacedacrossfrom
justabovethebridgeofthenosetotheexternaloccipitalprotuberance.Theheadcircumferenceiscomparedwith
thestandardmeasurementsforagivenage.Serialheadcircumferencemeasurementsaremorereliablethana
singlerecording.(See"Microcephalyininfantsandchildren:Etiologyandevaluation",sectionon'Measurement'.)
MacrocephalyisdefinedasOFCgreaterthanthe97thpercentileforage.(See"Macrocephalyininfantsand
children:Etiologyandevaluation",sectionon'Etiology'.)
MicrocephalyisusuallydefinedasOFClessthanthe2ndor3rdpercentileforage,althoughsomeindividuals
withOFCinthisrangehavenoclinicalabnormality.(See"Microcephalyininfantsandchildren:Etiologyand
evaluation",sectionon'Microcephaly'.)
Theanteriorfontanelisfeltforbulging(raisedintracranialpressure)ordepression(dehydration).Forconsistency,
serialevaluationsofthefontanelshouldalwaysbeperformedinthesameposition(eg,whilesupportingtheinfant
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whoisnotcryinginthesemiuprightposition).
Thesagittalandcoronalsuturesarepalpatedforridging(craniosynostosis)orseparation(raisedintracranial
pressure).Patientswithraisedintracranialpressuremayshowfrontalbossing,palpableseparationofsutures,
tenseorbulginganteriorfontanel,andprominentveinsoverthescalp.Prematureclosureofthesagittalsuturemay
conferanelongatedappearanceoftheskullintheanteroposteriorplanewithsidetosideflattening
(dolichocephaly).Prematureclosureofthecoronalsuturemayleadtobrachycephaly,withshorteningoftheskull
intheanteroposteriorplane.Plagiocephalyorasymmetricflatteningoftheskulloccurswhenthereispremature
closureofoneofthelambdoidalsutures.(See"Overviewofcraniosynostosis".)
Inyounginfantswithenlargedheads,transilluminationcanbeperformedtodetectfluidfilledintracraniallesions.
Thisisgenerallypossibleuptoaboutsixmonthsofage.Transilluminationiscarriedoutbyplacingabrightsource
oflightagainstthescalpinadarkenedroom.Hydrocephalus,hydranencephaly,porencephaliccyst,andchronic
subduralhematomacanbeassociatedanincreasedtransillumination.Auscultationoftheheadduringinfancymay
revealabruitinpatientswithveinofGalenarteriovenousmalformation.(See"Hydrocephalus",sectionon'CNS
malformations'.)
ELEMENTSOFTHEGENERALPHYSICALEXAMINATIONRELEVANTTOCHILDNEUROLOGYClues
tothediagnosisofmanychildhoodneurologicaldisorderscanbeobtainedduringacarefulgeneralphysical
examination.Additionaldetailonthesedisordersisavailablethroughthetopicreviewslinkedbelow,and/orinthe
openaccessdatabasesOnlineMendelianInheritanceinMan(OMIM)ortheNationalCenterforBiotechnology
information(NCBI)GeneReviews.
DysmorphicfeaturesThepresenceofanisolatedunusualmorphologicfeatureiscommon(notedinabout15
percentofnewbornsinoneseries),andisnotgenerallyassociatedwithunderlyingabnormalities[14].However,
thepresenceoftwoormoreunusualmorphologicfeaturesismuchlesscommon(0.8percentofnewborns)andis
associatedwithanincreasedlikelihoodofhavingaclinicallyimportantunderlyinganomaly.
Thefollowinglistofdysmorphicfeaturesisbynomeanscomplete,andthereaderisreferredtomore
comprehensivereviewsondysmorphology[15].
Hypotelorismmayaccompanytheholoprosencephalysequenceandtrisomy13.(See"Facialcleftsand
holoprosencephaly"and"Congenitalcytogeneticabnormalities",sectionon'Trisomy13syndrome'.)
Hypertelorismiscommonlyobservedinpatientswithcleftpalate,Sotossyndrome(cerebralgigantism)and
Apert,SaethreChotzen,CoffinLowry,andAarskogsyndromes.(See"Facialcleftsandholoprosencephaly"
and"Thechildwithtallstatureand/orabnormallyrapidgrowth",sectionon'Cerebralgigantism'and
"Craniosynostosissyndromes",sectionon'Apertsyndrome'and"Craniosynostosissyndromes",sectionon
'SaethreChotzensyndrome'.)
InnerepicanthalfoldsaccompanyDownsyndrome,RubinsteinTaybisyndrome,SmithLemliOpitz
syndrome,andZellwegersyndrome.(See"Downsyndrome:Clinicalfeaturesanddiagnosis"and
"Microdeletionsyndromes(chromosomes12to22)",sectionon'16p13.3deletionsyndrome(Rubinstein
Taybisyndrome)'and"Causesandclinicalmanifestationsofprimaryadrenalinsufficiencyinchildren",
sectionon'Defectsincholesterolbiochemistry'and"Peroxisomaldisorders",sectionon'Zellweger
syndrome'.)
SlantedpalpebralfissuresarecommoninDownsyndrome,Apertsyndrome,DiGeorgesequence,Miller
Diekersyndrome,rhizomelicchondrodysplasiapunctata,andAarskogsyndrome.(See"DiGeorge(22q11.2
deletion)syndrome:Clinicalfeaturesanddiagnosis"and"Microdeletionsyndromes(chromosomes12to22)",
sectionon'17p13.3deletionincludingPAFAH1B1(MillerDiekersyndrome)'and"Peroxisomaldisorders",
sectionon'Rhizomelicchondrodysplasiapunctatatype1'.)
Prominent,fulllipsarecommoninWilliamssyndrome.(See"Microdeletionsyndromes(chromosomes1to
11)",sectionon'7q11.23deletionsyndrome(Williamssyndrome)'.)
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LowsetearsareseeninNoonan,TreacherCollins,MillerDieker,RubinsteinTaybi,SmithLemliOpitz,and
PenaShokiersyndromes,aswellasTrisomy9and18.(See"Causesofshortstature",sectionon'Noonan
syndrome'and"Syndromeswithcraniofacialabnormalities",sectionon'TreacherCollinssyndrome'and
"Congenitalcytogeneticabnormalities".)
Asinglemidlineincisorinthemaxillamaybeassociatedwithholoprosencephaly.(See"Facialcleftsand
holoprosencephaly".)
SkinexaminationSkinfindingsassociatedwithneurologicdiseaseincludethefollowing:
Tuberoussclerosismaybeassociatedwithhypopigmentedpatches,angiofibromasoverthecheek
(adenomasebaceum),shagreenpatchesoverthelumbarregion(raisedskinlesionswithanirregular
surface),andabrownfibrousplaqueontheforehead.(See"Tuberoussclerosiscomplex:Genetics,clinical
features,anddiagnosis",sectionon'Dermatologicfeatures'.)
NeurofibromatosistypeIisassociatedwithsixormorecafaulaitspots(>5mminaprepubertalchildand
>15mminapostpubertalchild),neurofibromas(soft,sessilenodules),andaxillaryoringuinalfreckles.(See
"Neurofibromatosistype1(NF1):Pathogenesis,clinicalfeatures,anddiagnosis",sectionon'Clinical
manifestations'.)
AportwinestainoveronehalfofthefaceischaracteristicofSturgeWebersyndrome.Thelesioninvariably
involvestheophthalmicregionofdistributionofthetrigeminalnerve.Manypatientshaveanassociated
intracranial(leptomeningeal)angioma,withhemiplegiaandfocalepilepsy.(See"SturgeWebersyndrome".)
Petechialhemorrhages,whichconferablueberrymuffinappearancetotheskin,maybeseeninneonates
withcongenitalcytomegalovirusinfections.(See"Congenitalcytomegalovirusinfection:Clinicalfeaturesand
diagnosis",sectionon'Clinicalmanifestations'.)
Amacularrash(locatedoverthemalarregionoftheface)ischaracteristicofsystemiclupus
erythematosus,whereasdrughypersensitivityreactionstendtohavearashwithageneralizeddistribution.
(See"Systemiclupuserythematosus(SLE)inchildren:Clinicalmanifestationsanddiagnosis".)
ErythemamigransisareddishtargetshapedlesionthatischaracteristicofLymedisease.(See"Lyme
disease:Clinicalmanifestationsinchildren",sectionon'Erythemamigrans'.)
Vitiligomaybeassociatedwithautoimmunedisturbancessuchasmyastheniagravis.(See"Vitiligo",
sectionon'Associationwithautoimmunedisease'.)
LaxorredundantskinmayaccompanyCoffinLowrysyndrome,Costellosyndrome,andtheEhlersDanlos
syndrome.(See"Rhabdomyosarcomainchildhoodandadolescence:Epidemiology,pathology,and
molecularpathogenesis",sectionon'Inheritedsyndromes'and"Jointhypermobilitysyndrome".)
Angiokeratomas,whicharecollectionsofsmallreddishbumps,areseeninFabry'sdisease,whichisa
lysosomaldisorderduetoabsenceofalphagalactosidaseA.(See"ClinicalfeaturesanddiagnosisofFabry
disease".)
Externalgenitalia
Hypogonadismwithsmalltesticlesorundescendedtesticles,andsmallpenilesizeiscommoninPrader
Willisyndrome(obesity,hypogonadism,hyperphagia,andmentalretardation).(See"Clinicalfeatures,
diagnosis,andtreatmentofPraderWillisyndrome".)
Ambiguousgenitaliamayaccompanyxlinkedlissencephalyandthesyndromeofinfantilespasmsin
associationwithhydranencephaly/lissencephalyandagenesisofthecorpuscallosumduetomutationsinthe
aristalessrelatedhomeobox(ARX)gene.(See"Etiologyandpathogenesisofinfantilespasms".)
MacroorchidismiscommoninFragileXsyndrome.(See"FragileXsyndrome:Clinicalfeaturesand
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diagnosisinchildrenandadolescents".)
Patientswithxlinkedadrenoleukodystrophymaymanifesthyperpigmentationinitiallyovertheexternal
genitalia.(See"Adrenoleukodystrophy".)
LymphadenopathySubacuteandchronicinflammatoryorneoplasticdisorders(eg,toxoplasmosis,
tuberculosis,infectiousmononucleosis,andlymphoma)maybeassociatedwithenlargementoflymphnodesover
multipleregionsofthebody.Insomeofthesedisorderstheremaybenonspecificneurologicsymptomssuchas
lethargyorconfusion.
HepatosplenomegalyEnlargementofthespleenandlivermaybeseenwiththeaforementionedinfectious
disorders.Lysosomalstoragedisorders,suchasmucopolysaccharidosesandgeneralizedGM1gangliosidosis,
andNiemannPickdiseasecanalsoleadtohepatosplenomegaly.(See"Mucopolysaccharidoses:Clinicalfeatures
anddiagnosis"and"Inbornerrorsofmetabolism:Classification",sectionon'Lysosomalstoragedisorders'and
"OverviewofNiemannPickdisease".)
AbnormalhairThefollowingdisordershavebothneurologicmanifestationsandabnormalitiesofhair.Such
associationsarereviewedelsewhereinmoredetail[16].
Brittlehairiscommoninargininosuccinicaciduria.(See"Ureacycledisorders:Clinicalfeaturesand
diagnosis".)
ThehairinMenkesdiseaseisbrittle,sparse,andtortuous.Asimplecluetothediagnosisisexamininghair
underlowpowerofalightmicroscope.(See"Overviewofdietarytraceminerals",sectionon'Menkes
disease'.)
AlopeciaiscommoninrhizomelicchondrodysplasiapunctataandinRubinsteinTaybisyndrome.(See
"Peroxisomaldisorders",sectionon'Rhizomelicchondrodysplasiapunctatatype1'and"Microdeletion
syndromes(chromosomes12to22)",sectionon'16p13.3deletionsyndrome(RubinsteinTaybisyndrome)'.)
Hirsutismandsynophrys(joinedeyebrows)arecommoninCorneliadeLangesyndrome.(See"Approachto
congenitalmalformations",sectionon'Syndrome'.)
AwhiteforelockofhairmayaccompanytheWaardenburgsyndrome(heterochromiaoftheiris,brightblue
eyes,broadandprominentnasalroot,midfacehypoplasia,andcongenitalsensorineuraldeafness).(See
"Thegenodermatoses",sectionon'Waardenburgsyndrome'.)
AbnormalbreathTheareafromwhichabnormalsmellsaremosteasilydetectedisthenapeoftheneckorthe
scalp.Infantswithphenylketonuriamaymanifestamousyodor.Thosewithisovalericaciduriamayhaveanodor
ofsweatyfeet.(See"Inbornerrorsofmetabolism:Epidemiology,pathogenesis,andclinicalfeatures",sectionon
'Abnormalodors'.)
Cardiovascular
HighoutputcardiacfailureiscommoninnewbornsandinfantshavingveinofGalenmalformations.(See
"Hydrocephalus",sectionon'CNSmalformations'.)
AfloppyandweakinfantwithcardiomegalyandpoorcardiaccontractilitymayhavePompe'sdisease(acid
maltasedeficiencyortypeIIglycogenstoragedisease).(See"Lysosomalacidmaltasedeficiency(glycogen
storagediseaseII,Pompedisease)".)
DuchenneandBeckermusculardystrophiesareassociatedwithcardiomyopathy.(See"Clinicalfeaturesand
diagnosisofDuchenneandBeckermusculardystrophy".)
PatientswithFriedreich'sataxiafrequentlymanifesthypertrophicsubaorticcardiomyopathy,aswellas
progressiveataxiaanddiabetesmellitus.(See"Friedreichataxia".)
PatientswithBarthssyndromehavecongenitaldilatedcardiomyopathyaswellasskeletalmyopathyand
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neutropenia.(See"Inheritedsyndromesassociatedwithcardiacdisease",sectionon'Barthsyndrome'.)
OtolaryngologyMacroglossiaisoftennotedwhenthetongueprotrudesfrombetweentheteeth.Macroglossia
isacharacteristicofBeckwithWiedemannsyndromeandsomeformsofmucopolysaccharidosis(eg,Hurler
syndrome),andcanalsobeseeninsomepatientswithuntreatedhypothyroidism.Patientswithmacroglossia
oftenhaveobstructivesleepapnea.(See"BeckwithWiedemannsyndrome"and"Mucopolysaccharidoses:Clinical
featuresanddiagnosis",sectionon'Hurlersyndrome'.)
DEVELOPMENTALSCREENINGTESTSDevelopmentalscreeningtestscomplementthehistoryand
neurologicexamination,canbeconductedinthefieldbytrainedhealthprofessionals,andmayfacilitateearly
diagnosisofachildhoodneurologicaldisabilityandappropriateintervention.Thereareseveralbriefandaccurate
developmentalscreeningteststhatmakeuseofinformationprovidedbytheparentsordirectobservationor
elicitationofdevelopmentalskills.(See"Developmentalandbehavioralscreeningtestsinprimarycare",section
on'Developmentalscreeningtests'.)
SUMMARYAcompleteneurologicalassessmentconsistsofafocusedclinicalhistory,adetailedneurological
examination,andageneralphysicalexaminationthatfocusesonfeaturesthatmayberelatedtoneurologic
disease.
Ininfantsandchildren,thehistoryshouldincludeinformationaboutprenatalexposuresandsymptomsand
assessmentofdevelopmentalmilestones(table1).(See'Pregnancy,perinatal,andneonatalhistory'above
and'Developmentalhistory'above.)
Observationsofinfantsandtoddlersduringplay(eg,whilestackingblocksorplayingwithanageappropriate
toy)canprovidevaluableinformationaboutthepatient'sattentionspan,grossandfinemotorcoordination,
andproblemsolvingabilities.Thesehighercorticalfunctionsarealsoassessedwithaseriesofquestions
appropriatetothechildsage(table2).(See'Highercorticalfunctions'above.)
Eachcranialnerveistestedbyperformanceofaspecificmotororsensorytest.Testingininfantsisoftenby
observationforspecificmovementsandresponsesandislessreliable.(See'Cranialnerves'above.)
Thepatientshouldbeobservedforabnormalitiesofpostureandmovements,includingasymmetryatrest,
fistingofthehand,frogleggedpositionsuggestinghypotonia,tremor,myoclonus,ortics.(See'Postureand
movements'above.)
Muscletoneistheresistancefeltuponpassivemovementofajointthroughitsrangeofmotion.Hypotoniais
characterizedbydecreasedresistancetopassivemovementandhyperextensionatthejoints.Hypertonia
canbeeitherspasticinnatureorcharacterizedbymusclerigidity.(See'Toneandstrength'above.)
Asensoryexaminationinyoungchildrenisoftenimprecise,andonlygrossdeficitscanbedetected.In
childrenolderthanfivetosixyears,sensoryfunctionisevaluatedinthesamemannerasinanadult.(See
'Sensorysystem'above.)
Developmentalreflexes(alsoknownasprimitivereflexes)appearatacertaintimeduringthecourseofbrain
development,andnormallydisappearwithprogressivematurationofcorticalinhibitoryfunctions(table3).
(See'Developmentalreflexes'above.)
Certainelementsofthegeneralphysicalexaminationmayprovidecluestothediagnosisofchildhood
neurologicaldisorders.Importantfeaturesincludefacialdysmorphism,abnormalitiesofskinpigmentation,
colorandtextureofhair,breathodor,hepatosplenomegaly,andevidenceofcardiacdisease.(See'Elements
ofthegeneralphysicalexaminationrelevanttochildneurology'above.)
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GRAPHICS
Commondevelopmentalmilestones
Milestone
Ageatacquisition
Fixesgazebriefly,habituatestostereotypedauditory,visual,and
tactilestimuli
Atbirth(40weekspost
conceptionalage)
Smilesresponsively,gurgles
23months
Visualtrackingofabrightobjectto180degrees
3months
Rollsover,holdsheaduprightwhenpulledfromsupinetositting
3months
Reachesoutforobjects
45months
Maintainssittingpositionindependently
6months
Graspsobjectsusingthumbandindexfingerpulp
89months
Crawls,babbles,usesnonspecific"Mama","Dada"sounds
910months
Pullsuptostandandwalkswithsupport
1011months
Walksindependently,uses23clearwords,includingspecific"Mama"
and"Dada"
1314months
Canpointtobodyparts,usesimplephrases
1819months
Namesbodyparts,statesage,usesphrases
24months
Pedalstricycle,speaksinsentences,asksquestions,likelytoilet
trained,cannameprimarycolors
36months
Mastersconceptsofalphabetsandnumbers
45years
Abletoreadsimplewords,add,subtract
56years
Conceptsofdivision,multiplication,geography,generalinformation
likecities,states,largerivers,oceans,etc.
78years
CourtesyofSureshKotagal.
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Assessmentofhighercorticalfunctioninchildren
Age
6to12months
Evidenceofnormalcorticalfunction
Awarenessofsurroundings
Interactionwithexaminer(socialsmile,inquisitiveness,habituation)
Cooingandgurgling,sometimesmakingofnonspecific"mama"and"dada"
sounds
12to20
months
Sixtoeightwordvocabulary
Comprehendsonestepcommands
Pointstotwoorthreebodyparts
24months
Namestwoorthreebodyparts
Usesphrasesandsimplesentences
24to36
months
Conceptofself(referringtoselfas"I",knowledgeofnameandage)
36months
Countsthreeobjects
Understandsprepositionalconcepts(eg,"over"and"under")
Asksquestions
Namesthreecolors
48months
Copiesasquareandacross
5or6years
Spellsmonosyllabicwords
Countsto10
6years
Copiesatriangle
6or7years
Doessimpleadditionandsubtraction
Readspolysyllabicwords
7years
Copiesadiamond
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Thenormalopticdisc
Themarginsaredistinct,therimhasapinkishcolor,andthereisa
centralpalecup(arrows).Thisopticdischasacup:discratioof0.2.
CourtesyofKarlCGolnik,MD.
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Diffuseopticatrophy
Top:diffuseopticatrophy.Bottom:felloweyewithnormaldisccolor.
CourtesyofKarlCGolnik,MD.
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Papilledema
Papilledema,characterizedbyblurringoftheopticdiscmargins,loss
ofphysiologiccupping,hyperemia,andfullnessoftheveins,ina5
yearoldgirlwithintracranialhypertensionduetovitaminA
intoxication.
CourtesyofGeraldStriph,MD.
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Macularcherryredspot
Sphingolipidsaccumulateintheretinalganglioncellsintheperifoveal
areaofpatientswithsphingolipidosescausingtheperifovealareato
appearpale.Thefovea,whichhasnoganglioncells,retainsits
"cherryred"color.
CourtesyofRobertPCruse,DO.
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Domeshapedretinalhemorrhage
Domeshapedretinalhemorrhagesmaybreakintothevitreous.
CourtesyofBrianForbes,MD,PhD.
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Corneallightreflex
Thecorneallightreflextestinvolvesshiningalightontothechild's
eyesfromadistanceandobservingthereflectionofthelightonthe
corneawithrespecttothepupil.Thelocationofthereflectionfrom
botheyesshouldappearsymmetricandgenerallyslightlynasaltothe
centerofthepupil.A)Normalcornealreflex.B)Corneallightreflexin
esotropia.C)Corneallightreflexinexotropia.
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14/5/2015
Commondevelopmentalreflexes
Reflex
Moro
(startle)
Description
Theexaminerholdstheinfantsupineinhisor
herarms,thendropstheinfant'sheadslightly
butsuddenly.Thisleadstotheinfantextending
Ageat
appearance
Ageat
resolution
34to36weeks
PCA
5to6months
38to40weeks
PCA
2to3months
andabductingthearms,withthepalmsopen,
andsometimescrying.Alternatively,the
examinermaylifttheinfant'sheadoffthebed
by1to2inchesandallowittogentlydrop
backthismaneuverelicitsasimilarresponse.
Asymmetric
tonicneck
reflex
Withtheinfantrelaxedandlyingsupine,the
examinerrotatestheheadtooneside.The
infantextendsthelegorarmontheside
towardswhichtheheadhasbeenturned,while
flexingthearmonthecontralateralside
(fencingposture).
Trunk
incurvation
(Galant)
Withtheinfantinaproneposition,the
examinerstrokesortapsalongthesideofthe
spine.Theinfanttwitcheshisorherhipstoward
thesideofthestimulus.
38to40weeks
PCA
1to2months
Palmar
grasp
Theexaminerplacesafingerintheinfant's
openpalm.Theinfantcloseshisorherhand
38to40weeks
PCA
5to6months
aroundthefinger,tightensthegripifthe
examinerattemptstowithdrawthefinger.
Plantar
grasp
Theexaminerplacesafingerundertheinfant's
toes.Theinfantflexesthetoesdownwardsto
"grasp"thefinger.
38to40weeks
PCA
9to10
months
Rooting
Theexaminerstrokestheinfant'scheek.The
infantturnstheheadtowardthesidethatis
stroked,andmakessuckingmotions.
38to40weeks
PCA
2to3months
Parachute
Theinfantisheldupright,backtotheexaminer.
Thebodyisrotatedquicklyforward(asiffalling).
Theinfantreflexivelyextendstheupper
extremitiestowardsthegroundasiftobreaka
fall.
8to9months
ofage
Persists
throughout
life
PCA:postconceptionalage.
CourtesyofSureshKotagal,MD.
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Detailed Neurologic Assessment of Infants and Children

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Detailed Neurologic Assessment of Infants and Children

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14/5/2015

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