1.1 Clinical Presentations of Rheumatic Disease in Different Age Groups - The_child_patient

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Oxford Textbook of RheumatologyFourth EditionEdited by Richard A. Watts, Philip G. Conaghan, Christopher Denton, Helen Foster, John Isaacs, and Ulf Müller-Ladner

Transcript of 1.1 Clinical Presentations of Rheumatic Disease in Different Age Groups - The_child_patient

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    Publisher: OxfordUniversityPress PrintPublicationDate: Oct2013PrintISBN-13: 9780199642489 Publishedonline: Oct2013DOI: 10.1093/med/9780199642489.001.0001

    Chapter: ThechildpatientAuthor(s): LoriB.TuckerDOI: 10.1093/med/9780199642489.003.0001

    OxfordMedicineOnline

    OxfordTextbookofRheumatology(4ed.)EditedbyRichardA.Watts,PhilipG.Conaghan,ChristopherDenton,HelenFoster,JohnIsaacs,andUlfMller-Ladner

    LatestupdateInNovember2014,80chapterswereupdated.NumerousupdateshavebeenmadeincludingtothechaptersonRheumatoidArthritis,theGeneticsandEnvironmentsection,theManagementsection,andmuchmore.WealsowelcometwonewauthorsSebastienViatteandCharlesRaine.

    Thechildpatient

    IntroductionMusculoskeletalcomplaintsinchildrenareverycommon,andmostaregenerallyinconsequentialandself-resolving.However,itisimportanttodifferentiatechildrenwithminorproblemsfromthosewhohavedevelopedamoreseriousmusculoskeletalproblempossiblyassociatedwithlong-termillness.Thisisfrequentlychallengingtotheclinician,asthedifferentialdiagnosisofconditionsassociatedwithmusculoskeletalcomplaintsisbroadandchildrenpresentspecialcircumstancestoconsider.Thespectrumofchildhoodrheumatic

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    diseasesisshowninTable1.1.Afulldiscussionofchildhoodrheumaticdiseasesisbeyondthescopeofthischapter;summariesofmanyoftheimportantdiseasesareprovidedinlaterchaptersorothersources.

    Table1.1Thespectrumofchildhoodrheumaticdisease

    JIA

    SLE SLENeonatalLE

    Juveniledermatomyositis

    Scleroderma Limitedorlocalized:morphea,linear,generalizedcutaneousSystemicsclerosis

    Vasculitides KawasakidiseaseHenochSchonleinpurpuraGranulomatouspolyangiitisTakayasu'sarteritisPolyarteritisnodosa

    Granulomatousdisease Sarcoidosis

    Acuterheumaticfever

    Autoinflammatorydiseases

    PeriodicfeversyndromesCRMO

    CRMO,chronicrecurrentmultifocalosteomyelitis;JIA,juvenileidiopathicarthritis;LE,lupuserythematosus;SLE,systemiclupuserythematosus.

    ClassificationsofrheumaticdiseaseinchildrenTheclassificationofarthritisandotherrheumaticdiseasesinchildrenhasposedsignificantchallenges,anduntilrecently,theuseofdifferentclassificationsystemsforthemostcommonrheumaticcondition,arthritis,resultedininabilitytocompareresearcharoundtheworld.

    Classificationofchildhoodarthritis

    Theclassificationofchildhoodarthritishasevolvedoverthepast10yearssincethepublicationoftheInternationalLeagueofAssociationsforRheumatology(ILAR)criteriaforjuvenileidiopathicarthritis(JIA)in2002. Thesecriteriaweredevelopedbyaninternationalcommitteeofpaediatricrheumatologists,usingexpertopinion,aswellasaconsensusprocess

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    andevidence-basedmodifications.Beforethesecriteriaweredeveloped,childrenwerediagnosedusingeithertheAmericanCollegeofRheumatology(ACR)criteriaforjuvenilerheumatoidarthritis ortheEuropeanLeagueAgainstRheumatism(EULAR)criteriaforjuvenilechronicarthritis; theuseofthesedifferingcriteriasetsledtodifficultyincomparingpatientcohortsacrossdifferentcountriesandpublications(Table1.2).

    Table1.2Comparisonofcriteriaforchronicarthritisinchildhood

    ILARcriteria(JIA) ACRcriteria(JRA) EULARcriteria(JCA)

    OligoarthritisPersistentExtended

    Pauciarticular Pauciarticular

    PolyarthritisRF Polyarticular PolyarticularRF

    PolyarthritisRF+ PolyarticularRF+

    Systemicarthritis Systemic Systemic

    Psoriaticarthritis Psoriatic

    Enthesitis-relatedarthritis Ankylosingspondylitis

    Undefinedarthritis

    JCA,juvenilechronicarthritis;JIA,juvenileidiopathicarthritis;JRA,juvenilerheumatoidarthritis;RF,rheumatoidfactor.

    ThereisnowmorewidespreadadaptationoftheILARcriteriaforchildhoodarthritisworldwide.Theoveralltermjuvenileidiopathicarthritis(JIA)isdefinedasdefinitearthritisoccurringbeforethe16thbirthday,persistingforatleast6weeksandofunknowncause.TherearesevencategoriesofJIAdefinedbytheILARcriteria(Table1.3).Ofimportance,theILARcriteriaincludeacategoryofenthesitis-relatedarthritis(ERA)whichencompasseschildrenpreviouslydescribedashavingspondyloarthropathy,seronegativeenthesitisandarthropathy,andjuvenileankylosingspondylitis.Therehasbeencontroversyregardingtheuseofafamilyhistoryofpsoriasisasanexclusioncriteriaforsomesubtypes,andsomedifficultiesofclassificationinthesubtypesofpsoriatic,ERA,andunclassifiedJIA.

    Table1.3ILARcriteriafortheclassificationofjuvenileidiopathicarthritis

    Category Definition Exclusions

    Oligoarthritis Arthritisinlessthan5jointsduringthefirst6monthsofdiseasePersistent:nevermorethan4joints

    1,2,3,4,5

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    Persistent:nevermorethan4jointsExtended:morethan4jointsafterthefirst6monthsofdisease

    PolyarthritisRF+

    Arthritisin5ormorejointsduringthefirst6monthsofdisease,withpositiveRFtest(X2)

    1,2,3,5

    PolyarthritisRF

    Arthritisin5ormorejointsduringthefirst6monthsofdisease,withnegativeRFtest

    1,2,3,4,5

    Systemicarthritis

    Arthritiswithfeverof2weeks'duration,documentedtobequotidianforatleast3days,andaccompaniedbyoneormoreof:

    (a)evanescent,non-fixedrash(b)hepatomegalyorsplenomegaly(c)serositis(d)generalizedlymphadenopathy

    1,2,3,4

    Psoriaticarthritis

    Arthritisandpsoriasis,orArthritiswithoneormoreof:

    (a)dactylitis(b)nailpittingoronycholysis(c)psoriasisinafirstdegreerelative

    2,3,4,5

    ERA Arthritisandenthesitis,orArthritisorenthesitiswithoneormoreof:

    (a)sacroiliacjointtendernessand/orinflammatorylumbosacralspinalpain(b)HLAB27positivity(c)acutesymptomaticuveitis(d)first-degreerelativewithHLAB27associateddisease(e)onsetofarthritisinaboyovertheageof8years

    1,4,5

    Undefinedarthritis

    Achildwitharthritiswhomeetscriteriaformorethanonecategoryorfornocategory

    ERA,enthesitis-relatedarthritis;RF,rheumatoidfactor.Exclusions:

    1.Psoriasisinthepatientorfirst-degreerelative.

    2.ArthritisinanHLAB27positivemalewithonsetafter8yearsofage.

    3.Anklyosingspondylitis,enthesitis-relatedarthritis,sacroilitiswithinflammatoryboweldisease,Reiter'ssyndrome,oracuteanterioruveitisinafirst-degreerelative.

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    4.PresenceofIgMRFonatleasttwooccasionsmorethan3monthsapart.

    5.ThepresenceofsystemicJIA.

    Classificationsofotherchildhoodrheumaticconditions

    Theonlydiagnosticcriteriawhichhavebeendevelopedspecificallyforclassificationordiagnosisofchildhoodrheumaticdiseasesarethoseforacuterheumaticfever andforKawasakidisease. Bothofthesecriteriasetshavereasonablyhighsensitivitybutlowerspecificity.Specifically,strictapplicationoftheKawasakidiseasecriteriawillexcludechildrenwhohavewhatisdescribedasatypicalKawasakidisease'.Thesechildrendonotfulfilthepublishedcriteria,butareathighriskfordevelopmentofcoronaryarteryaneurysmsandpooroutcome.

    Criteriaforthediagnosisofmostotherchronicrheumaticdiseasesofchildhoodhavegenerallybeenadoptedinwholeorpartfromclassificationcriteriaforadults.Forexample,theclassificationcriteriaforsystemiclupuserythematosus(SLE) anddermatomyositis areusedingeneralpracticeforthediagnosisoftheseconditionsinchildren.However,recentworkhasbeendonetoexaminethevalidityofclassificationcriteriaforsystemicvasculitidessuchasHenochSchonleinpurpura,polyarteritisnodosa,Takayasuarteritis,andgranulomatouspolyangiitis(formerlyknownasWegener'sgranulomatosis )forchildren.In1990,consensuscriteriadefinitionswereproposedbyagroupofexpertrheumatologistsfromtheACRforthesevasculitisconditions. In2008,aninternationalpaediatricrheumatologyconsensusconferencewasconvenedtovalidateandfinalizepaediatricvasculitisdiagnosticcriteria;usingstandardconsensusformationmethodologyandpatientcasedata,finalizedclassificationcriteriawerepublishedwhichdemonstratedhighsensitivityandspecificityintheseexercises.

    EpidemiologyofchildhoodrheumaticdiseasesItisacommonmisconceptionthatrheumaticdiseasesarerareinchildhood.Infact,chronicarthritisisoneofthemostcommonchronicconditionsofchildhoodassociatedwithdisability.Inaddition,asignificantpercentageofpatientswithautoimmunediseasessuchasSLEhavedevelopedtheonsetofdiseaseinchildhood.Somerheumaticdiseasessuchasdermatomyositisandlocalizedsclerodermaaremorefrequentinchildrenandadolescentsthaninadults.SomediseasessuchasoligoarticularJIAwithuveitis,systemicJIA,acuterheumaticfever,HenochSchonleinpurpura,andKawasakidiseaseoccuralmostexclusivelyinchildhood.Conversely,thereareanumberofrheumaticdiseasesthatrarelyoccurinchildhood,includinggout,calciumpyrophosphatedepositiondisease,polymyalgiarheumatica,andprimaryosteoarthritis.

    Accuratedatademonstratingtheincidenceandprevalenceofchildhoodarthritisissurprisinglysparse.Muchofthedataavailablehascomefrompaediatricrheumatology-basedclinicpopulationsorregistries,whichmayresultinunder-reportingofthetruefrequencyofdisease.ThemostcurrentinformationsuggeststhattheprevalenceofJIAisbetween10and400per100000children,dependingongeographiclocationandcasedefinitions. Of

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    interest,apopulation-basedstudybyMannersandDiepeveen suggeststhattheprevalenceofchronicarthritisin12-year-oldAustralianchildrenwasactuallymuchhigherthanexpected(400/100000).ReportedincidenceofJIArangesfrom1to2per100000children,withmostreportscomingfromclinic-basedstudiesinEuropeorNorthAmerica. Asurveillance-basedstudyfromCanadadonein20072009foundacalculatedincidencerateof4.3per100000children; howeverthisislikelytobeanunderestimateascaseswerereportedbypaediatriciansonly.

    Accuratefrequenciesoftheotherchildhoodrheumaticdiseases,suchasSLE,dermatomyositis,scleroderma,andvasculitis,areevenmoredifficulttofind.Population-basedstudiesusingadministrativedatahavenotbeendoneinthesepopulations.

    Ageandsexdistributionsoftherheumaticdisordersofchildhooddifferbydisease.Forexample,SLEismorecommoningirlsthaninboys,andfarmorefrequentinchildrenoverage10years.OligoarticularJIAismorecommoningirlsyoungerthanage6years,andERAmorecommoninboysoverage6years.However,theserules'arenothardandfast,andcliniciansneedtobeawarethatrheumaticdiseasecanpresentinchildrenasyoungas1yearofage.

    Ethnicvariationoccursinsomechildhoodrheumaticdiseases.JIAisfoundaroundtheworld,butthedistributionofdiseasesubtypeshasbeenreportedtodifferindifferentcountries.Forexample,JIAsubtypedistributioninIndiaisquitedifferentfromthatinNorthAmerica.

    InteractionofgrowthanddevelopmentwithchildhoodrheumaticdiseasePhysicalgrowth

    Oneofthemajordifferencesbetweenchildhood-onsetandadult-onsetrheumaticdiseaseisthepotentialeffectofhavingachronicinflammatorydiseaseonthenormalgrowthoftheaffectedchild.Thepresenceofactiveinflammationcanstuntthelineargrowthofanaffectedchild.Additionally,treatmentsusedforchronicinflammatorydiseases,mostnotablycorticosteroids,haveprofoundnegativeeffectsongrowth.Carefuldocumentationoftheheightandweightofachildwithrheumaticdiseaseshouldbemadeateachmedicalencounter,andcomparedtogrowthcurvesforhealthychildrenofthesamesexandage.Itisimportanttoconsiderthechild'sgeneticbackgroundandparentalheightsinassessinggrowthratesforanindividualchild.Serialmeasurementsensurethatgrowthvelocityovertimeisnormal.Growthratesmayincreasetoallowcatch-upgrowthoncediseaseiscontrolled;forexample,achildwithpoorlycontrolledJIAmayhaveagrowthspurtoncediseaseiscontrolledusingmethotrexate.However,somechildrenwillhavepermanentgrowthstuntingfromthecombinationofsevereactivediseaseandtherequirementforhighdosesofcorticosteroids.

    Motordevelopment

    Youngchildrenwhodeveloparheumaticdiseasemayhavedelayedmotordevelopmentduetotheirdisease.Forexample,averyyoungchildwhodevelopsJIAmaynotlearntowalkorjumpattheappropriatetimesduetopainandinabilitytomovejointsnormally.Recognitionoftherangeofnormaldevelopmentinyoungchildrenisessentialforinterpretationoffindingsonthephysicalexaminationandfunctionalassessment.Thereisconsiderablevariationinthe

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    ageatwhichindividualdevelopmentalmilestonesareachieved.ThedatesinTable1.4shouldbeusedasaguidelineonly.

    Table1.4Normaldevelopmentalgrossmotormilestonesinchildren

    Age(months) Milestonesachievedbythisage

    7 Independentsitting

    10 Crawling

    12 Cruising,walkingwithonehandheld

    15 Walkingalone,crawlingupstairs

    18 Runningstiffly

    24 Runningwell;walkingupanddownstairsonestepatatime

    30 Jumping

    36 Walkingupstairsalternatingfeet,ridestricycle

    48 Hoppingononefoot

    60 Standingononefoot;skipping

    Delayinachievingmotormilestonesmayoccurinachildwithanychronicdisease,butthismaybemoreevidentinthechildwithadiseaseaffectingthemusculoskeletalsystem,thefunctionofwhichisthebasisfortheestimationofdevelopmentalstages.Althoughtheremaybeadelayinthechronicallyillchild,milestonesareeventuallyachievedovertime.

    Psychosocialdevelopment

    Chronicillnesscanhaveamajorimpactonthequalityoflifeofthefamily,aswellasthechild,throughouttheirdevelopment.AsignificantnumberofchildrenwithJIAhavedisabilitythatinterfereswithfullfunctioningatsometimesduringchildhoodandadolescence,andchildrenwithserioussystemicrheumaticconditionssuchassystemiclupus,vasculitis,ordermatomyositismayhavemajorinterferencewithregularfunctioning.Forchildrenwithrheumaticdisease,careneedstobefamilyfocused,andisbestdeliveredbyamultidisciplinarypaediatricrheumatologyteamwhichoftenincludessocialworkersandpsychologists.

    Educationalconsiderations

    Theschoolisoneofthechild'smostimportantenvironments,andparticipationintheschool

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    environmentisastronginfluenceonhealthydevelopment.Attentiontoschoolperformance,bothacademicandsocial,iscriticaltopromotinghealthydevelopment.Childrenwithrheumaticdiseaseshouldbeexpectedtoparticipatefullyinschool,withmodificationsifnecessarytoaccountfortheirphysicalconsiderations,physicianvisits,ortreatments.Anassessmentofschoolattendance,participation,limitsandconcernsshouldbeapartofeveryfollow-upvisit.Directcontactbetweenthemedicalteamandthechild'steachersorcounsellorsisoftenbeneficialineducatingschoolpersonnelaboutthechild'sconditionanddesigningmodificationsthatareappropriate.Forexample,theuseofalaptopcomputerfortakingnotesandtestsmaybeimportantforthechildwitharthritisinvolvingthehandsandwrists.Childrenwithrheumaticdiseaseshouldbeencouragedtoparticipateinphysicalactivityatschool,suchasphysicaleducation,playtime,orsportsteams;routineproscriptionfromactivityisnothelpfulfortreatmentandleadstosocialisolationandgeneralizedpoorconditioning.

    Aschildrenmoveintoadolescence,thedevelopmentaltrajectorybeginstoincludeissuesrelatingtoself-esteem,sexuality,peerrelationships,educationalandvocationalgoals,andindependence.Havingachronicrheumaticillnessoffersuniquechallengestotheadolescentandtheirparents,andthesupportandguidanceofaknowledgeablesubspecialtyteamisveryimportantthroughthistime.Thetimingoftransitionfromthepaediatrictotheadulthealthcaresettingvarieswiththepatient,family,physician,andhealthcaresetting.Ingeneral,adolescentswillbecaredforbythepaediatricrheumatologyteamuntilthetimeofcompletionofsecondaryeducation,andenteringtheworkforceorpost-secondaryeducation.Insomesettings,transitionclinicshavebeendevelopedtocareforyouthwithrheumaticdisease.Thegoalsofthesetransitionprogramsaretopromoteyouthindependenceinhealthcare,educateyouthabouttheirdiseaseandneeds,andpreparethemtomovetotheadulthealthcaresetting.

    Sexualmaturation

    Chronicinflammatorydiseasecanresultinadelayinsexualmaturation.Completegenitalmaturity(Tanner5)mayoccurbeforetheageof13years,butmaynotoccuruntilageof18years. Menarcheoccursatanaverageof1213yearsinNorthAmericaandEurope.Theonsetofmenstruationmaybedelayedingirlswithactiveinflammatorydisease;also,mensesmaybecomeirregularorceaseinagirlwhohaspreviouslyhadaregularmenstrualpattern.

    Adelayinsexualmaturationmaybeasourceofanxietyforadolescents,andoftenthesepatientsmaynotbecomfortableraisingissuesofconcernregardingsexualitywiththemedicalteam,especiallyinthepresenceoftheirparents.Itisusefultohavesomepartofthemedicalvisitwiththeadolescentalone,andthephysicianornurseshoulddirectlyaddressissuesofsexualmaturityandfunctioningatthattime,whilereassuringtheadolescentoftheconfidentialityoftheconversation.Careshouldbetakentobecertainthattheadolescentunderstandsthecriticalaspectsofconversationsaroundmedicationsandteratogenicityorimpactonfertility.Forexample,thecommentYoucan'tgetpregnantwhiletakingcyclophosphamide'maybeinterpretedtomeanthattheadolescentdoesnotneedtousebirthcontrol,ratherthanbeingextremelycarefultoavoidpregnancy.

    Assessment

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    Historyandphysicalexamination

    Thehistoryandphysicalexaminationprovidemostofthediagnosticinformationinchildrenwithrheumaticdiseases;laboratorytestsprovidelittlehelp.Thehistoryshouldbeobtainedfromthechild'susualcaregiverifpossible(parentorotheradult),andthechild.Evenayoungchildmaybeabletoprovideimportantinformationrelatingtothehistoryoftheirsymptomsorthedegreeoffunctionaldifficultyexperienced.

    Rheumaticdiseasesaresystemicdisorders,andthereforeacompletephysicalexaminationshouldbeperformedineverycase,duringwhichthechild'scomfort,modesty,anddignitymustberespected.Childrenshouldbeofferedappropriate-sizegownsorshorts,andshouldbegivenaprivatespaceforchangingclothes.Theapproachtothephysicalexaminationofthechildrequiresexpertiseinunderstandinghowtoapproachchildrenofdifferentages.Frequently,providinganexplanationtothechildofwhatwilloccurduringtheexaminationishelpful,andreassurancethattheexaminationwillnotcontinueifitcausespain.Inmostcases,examinationofpainfulareasshouldbelefttothelast.Forsmallchildren,theexaminationmaybeginbyobservingthechildatplayormovingaroundtheroom.Anapprehensiveyoungchildmayneedtohavethephysicalexaminationperformedwhilesittingonaparent'slap.Inmostcases,theskilledexaminerwillbeabletoperformacompleteexaminationofeventheyoungestchild.

    Age-relatednormalvariationsinphysicalexaminationmustbetakenintoaccount:

    Positionandrangeofmotion:Infull-termnewborns,theelbows,knees,andhipsdonotfullyextend.Intheyoungchild,oreventheadolescent,hyperextensionatthekneesandelbowsisoftengreaterthaninyearsofage.Asymmetryofrangeatanyageshouldbeconsideredabnormal.Manychildrenhaveflatfeetresultingfromthedistributionoffatandlimitedmuscledevelopmentuntiltheageof5or6years.Intheabsenceofsymptoms,noinvestigationortreatmentisrequired.Musclestrength:Evaluationofmusclestrengthintheyoungchildmaybedifficultduetodifficultyinthechild'sabilitytocooperateintheexaminationofindividualmusclegroups.Awelltrainedpaediatricphysiotherapistisoftenbestabletocompletelyassessachild'smusclestrengthreliably.Ambulation:Inordertobeabletoassessgaitinchildren,itiscriticaltoknowthenormaldevelopmentaltrajectoryofambulation(seeTable1.4).Childrenwhodeveloparthritisduringthetimetheyarelearningtowalkfrequentlypresentwithadelayinachievingambulation,regressioninmotormilestones,oranabnormalambulationpattern.Specificphysiotherapymayberequiredtocorrectpoorambulationhabitswhichpersistevenafteractivejointdiseaseiswell-controlled.Alimp(asymmetryofgait)mayresultfromstructuralasymmetry,pain,muscleweakness,orarthritis.Althoughitishelpfultodifferentiatebetweenapainfulandanon-painfullimp,itisimportanttonotethatsomechildrenwithactivearthritisinthelowerextremitymaynothavepain.Somecommoncausesoflimp,byageofthechild,arelistedinTable1.5.

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    Table1.5Commonorsignificantcausesoflimpingaccordingtoage

    Toddler/preschoolInfection(septicarthritis,osteomyelitiship,spine)Mechanical(traumaandnon-accidentalinjury)Congenital/developmentalproblems(e.g.hipdysplasia,talipes)Neurologicaldisease(e.g.cerebralpalsy,hereditarysyndromes)JIAMalignantdisease(e.g.leukaemia,neuroblastoma)

    510yearsMechanical(trauma,overuseinjuries,sportinjuries)Transientsynovitisirritablehip'LeggPerthesdiseaseJIATarsalcoalitionComplexregionalpainsyndromesMalignantdisease

    1017yearsMechanical(trauma,overuseinjuries,sportinjuries)SlippedcapitalfemoralepiphysisJIAIdiopathicpainsyndromesOsteochonditisdissecansTarsalcoalitionComplexregionalpainsyndromesMalignantdisease(leukaemia,lymphoma,primarybonetumour)

    JIA,juvenileidiopathicarthritis.

    DiagnosisofchildhoodrheumaticdiseasesThechildwithmusculoskeletalpain

    Manychildrenwithrheumaticdiseasewillpresenttothephysicianwithpain;however,itisimportanttonotethatnotallchildrenwithmusculoskeletalpainwillhavearheumaticdisease,andinfact,somechildrenwitharthritisandotherrheumaticconditionsdonothavepain.Therefore,theimportantjobofaphysicianevaluatingachildcomplainingofmusculoskeletalpainistoconsiderthebroaddifferentialdiagnosis,anduseclinicalcluesandphysicalexaminationtocometotheappropriatediagnosis.

    Localizationofpaintothebone,joint,orsofttissuesmayhelpinguidingappropriateinvestigations,particularlyinthecontextoflengthoftimepainhasbeenpresent,severityofpain,orhistoryoftrauma.Veryseverepaininthecontextofanillchildwithfever,orthechild

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    whodoesnotallowmovementofajointorlimb,shouldbeinvestigatedforfracture,boneorjointinfection,ormalignancy.Jointpaininasingleormultiplejoints,moreprominentinthemornings,withgradualdifficultyinmovement,maybemoresuggestiveofarthritis.Painaftersportsactivitiesorexacerbatedbysportactivitiesmaybemechanicalororthopaedicinnature.

    Paininyoungchildrenmaybeparticularlychallengingtoassess.Parentsmaynoteachildchangehowtheyusealimb,andonlywhenanareaisstressedorexaminedcarefullywillthechildcomplain.Someyoungchildrenmayrefusetouseanarmorleg,orregressinmotormilestonesasamanifestationofmusculoskeletalpain.Forexample,achildwhohasbeenwalkingbutstopswalking,limps,orholdsthefootinanabnormalpositionmayhavearthritisorotherproblems.Youngchildrenoftenlocalizepainpoorly,andthephysicianmustcarefullyidentifytheareaofdiscomfortbypalpationandobservationofthechild'sbehaviour.Thechildmaywithdrawthelimborbecomeanxiouswhentheaffectedareaisexamined.Someyoungchildrenareabletouseapainscaleutilizingfacestoscoretheirpain.

    Painanddysfunctionmaybeasignofachronicidiopathicpainsyndrome,notarareconditioninadolescents.Theseadolescentspresentwitheitheraverylocalizedareaofpainandinabilitytousealimboradiffusepaininmanyareasofthebodyassociatedwithdisabilityandfatigue.Inpatientswithlocalizedpainsyndrome,anarthritiscannotbedemonstrated,andoftenabonescanmayshowdecreasedbloodflowtothearea;thisconditionissimilartoreflexsympatheticdystrophyandshouldbetreatedaggressivelywithphysiotherapy.Youngpeoplewithdiffusepainsyndromemayhavesofttissuetenderpointssimilartothoseseeninpatientswithfibromyalgia,aswellasfatigueandinabilitytoparticipateinnormalactivities.Thesepatientsmaybechallengingtotreat,astheyrequireamultidisciplinaryteamincludingphysiotherapy,occupationaltherapy,andpsychologyfortreatment.

    Thechildwithbackpain

    Backpainisanuncommoncomplaintinchildhood,particularlyinyoungchildren,ascomparedwithadults.Persistentcomplaintofbackpainshouldalwaysbethoroughlyinvestigated,astheunderlyingcausecouldbeseriousandrequireprompttreatment.Whenevaluatingachildwithbackpain,oneshouldconsiderthatbackpaincanbereferredfromotherareas;forexample,fromthebacktothethigh,fromthesacroiliacjointtothebuttock.ImportantcausesofbackpaininchildrenandadolescentsareshowninTable1.6.RedflagswhichshouldpromptclinicianconcernforseriousdiseaseareshowninTable1.7.

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    Table1.6Paininchildrenandadolescents

    BackpainAcutetrauma

    Fracture,dislocation,hematomaSpondylolysis,spondylolisthesis

    TumourBenign(osteoidosteoma)Malignant(sarcoma,metastaticneuroblastoma,leukaemia,lymphoma)

    InfectionDiscitisVertebralosteomyelitis

    OsteoporosisScheurmann'sdiseaseDiffusepainsyndrome

    PaininthesacroiliacjointsSepticsacroiliitisSpondyloarthropathy(arthritis)

    PaininthepelvisOsteomyelitisChronicrecurrentmultifocalosteomyelitisTumour(usuallyosteogenicsarcomaorEwing'ssarcoma)

    Table1.7Redflagsforevaluationofbackpaininchildrenandadolescents

    Systemicfeatures:fever,nightsweat,weightlossNightpainNeurologicsymptomsorsignsGaitchangeChangeinbowelorbladderhabitsFocallowerextremitymuscleweaknessPainfulscoliosis

    Thechildwithmonoarticulararthritis

    Thedifferentialdiagnosisofmonoarticulararthritisinthechildoradolescentisbroad.Childrenwithanewpresentationofmonoarticulararthritisshouldbeevaluatedpromptly,becausepotentiallyseriouscausesmaynotpresentinthetypical'mannerseeninadults.SomeofthemorecommoncausesofmonoarticulararthritisinchildrenareshowninTable1.8.

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    Table1.8Monoarticulararthritisinchildrenandadolescents

    Acutemonoarthritis Chronicmonoarthritis

    InfectionSepticarthritis

    InfectionOsteomyelitis

    Osteomyelitis Chronicsepticarthritis(i.e.TB)

    Trauma:minor,ligamentinjury,Fracture

    JIA

    Malignancy InflammatoryboweldiseaseOrthopaedic:osteochondritisdissecans,loosebodySynovialchondromatosisPigmentedvillonodularsynovitisOsteoidosteoma

    JIA,juvenileidiopathicarthritis;TB,tuberculosis.

    Thechildoradolescentwhopresentswithisolatedhippainoftenpresentsadiagnosticchallengefromseveralaspects.First,itiscriticaltoexamineallthejointsandaxialskeletoncarefully,withaviewtodifferentiatingthehippainfromthepossibilityofreferredpainfromotherareas.HippainasthesolepresentingfeatureofJIAisrelativelyrare,andthereforetheclinicianshouldconsiderthepossiblecausesofhippainaslistedinTable1.9.

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    Table1.9Causesofpersistenthippaininchildrenandadolescents

    Condition Agerange/considerations

    Congenitalhipdysplasia Usuallyfoundininfancybutcanbemissed

    Transientsynovitis 310years

    LeggPerthesdisease 510years;boysgirls

    Slippedcapitalfemoralepiphysis 1015years;boysgirls

    Idiopathicchondrolysisofthehip 1016years;girlsboys

    Acutechondrolysisofthehip 1016years

    JIAERA Anyage,usually8years

    Reactivearthritis Anyage

    Osteonecrosis Anyage

    ERA,enthesitis-relatedarthritis;JIA,juvenileidiopathicarthritis.

    Chronicasymmetricjointinflammationinthedevelopingchildcanresultinlocalizedgrowthdisturbances.Ingeneral,thebonesadjacenttoaninflamedjointgrowmorerapidly,andinconsequence,theaffecteddigitorlimbislonger.Ifthisoccursinasingleknee,ameasurableinequalityofthelegscanresult.Monitoringforlocalizedgrowthdisturbancesisanimportantpartoftheassessmentofachildwitharthritis,andmayindicateneedformoreaggressivetreatment.

    Thechildwithmuscleweakness

    Muscleweaknessiscommoninchildrenwithinflammatorymusculoskeletalconditions.SomechildrenwithJIAmaypresentwithapparentmuscleweaknessastheirmainsymptom,andonlyacompletephysicalexaminationwilldemonstratethefindingsofarthritis.Inaddition,anumberofrheumaticconditionspresentinchildhoodoradolescencewithweakness;theseincludejuveniledermatomyositis,mixedconnectivetissuedisease,andSLE.

    Theevaluationofthechildwithmuscleweaknessmaybechallenging,particularlywhenthechildisyoung.Itmaybedifficulttodostandardmanualmuscletestinginayoungchild,becauseofthechild'sshortattentionspanordifficultyfollowinginstructions.Carefulobservationofthechildatplay,themannerinwhichtheygetupfromsittingorlyingorwalkintheexaminationroomorhallway,ortheirabilitytostandontiptoesandheels,orsquat,mayprovidethebestinformationaboutthechild'slevelofweakness.Forexample,thechildwithweaknessoftrunkandneckmuscles,asseenindermatomyositis,mayhavetorolloveron

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    theirsideorabdomentositfromasupineposition.ThechildwithweaknessofthehipgirdlemaybeunwillingtosquatorstandfromasquatwithoutshowingGower'ssign.Observationofthegaitforawide-basedorTrendelenburgsignmaysuggestweaknessofthehipgirdlemuscles.Assessmentofmusclestrengthshouldalsoincludeadetailedneurologicalexamination.Asymmetricweaknessisnotlikelytoresultfromaninflammatorymyositissuchasdermatomyositis,orfromaprimarymyopathy.Withpatienceandexperience,thephysicianorphysiotherapistcandemonstratemuscleweaknessbyformaltestinginthechildover34yearsofage.Theapplicationofastandardizedvalidmusclescoringscale,theChildhoodMyositisAssessmentScale,ishelpfulindeterminingthefunctionallevelofweakness,andtofollowchangesovertime.

    Dermatomyositisissuggestedbythepresenceofsymmetricalproximalmuscleweakness;thepresenceoftheclassicalcutaneouschangesandelevatedserummuscleenzymeswillconfirmthediagnosisanddifferentiateitclinicallyfromprimarymyopathies.Weaknessofonelimbormusclemayindicateaperipheralneuropathiclesionorinflammationofanadjacentjointorjoints.Severeweaknessofthehipgirdleorthighscanresultfrominflammatorysacroilitisorgreatertrochantericenthesitis.

    Thechildwithfeverofunknownorigin

    Determiningthecauseoffeverofunknownorigin(FUO)inachildcanbechallenging,andfrequentlytheassistanceofapaediatricrheumatologistissought.Theconsultantmustfirstascertainthatthechildinfactdoeshavepersistentunexplainedfever,andthenmustthinkbroadlyacrossthedifferentialdiagnosis.Tobecertainthatthereisfever,actualdocumentationbyamedicalprofessional,sometimesinanin-patientsetting,mayberequired.Thisobservationperiodmaybehelpfulaswelltodeterminethefeverpattern,whichmaygiveacluetotheultimatediagnosis.

    ThemostfrequentaetiologyofFUOisinfectious,andovertoroccultinfectionmustbesought.Abasicwork-upincludingcompletebloodcount,inflammatorymarkerssuchaserythrocytesedimentationrate(ESR)andC-reactiveprotein(CRP),liverandkidneyfunctiontesting,chestradiographs,andabdominalultrasoundmayberequired.Blood,urine,andotherbacterialculturesmustbeperformedtoruleoutoccultsepsisorbacterialendocarditis.Atechnetiumbonescanmaybeindicated.Itisalsoimportanttoconsiderandexcludemalignancyearlyinthework-upofachildwithFUO;thismayrequireabonemarrowbiopsy.Feverwithweightloss,thepresenceoferythemanodosum,arthritisorarthralgia,withorwithoutgastrointestinalsymptoms,maysuggestthepossibilityofinflammatoryboweldisease.Insuchinstances,theremaybeanaemia,hypoalbuminaemia,andelevationoftheESR.Definitivediagnosismayrequireendoscopyofthecolonorsmallbowelwithbiopsies;morerecently,MRIofthebowelhasbeenusedasadiagnostictest.

    AmongtherheumaticconditionstobeconsideredinthechildwithFUOaresystemicarthritis,systemicvasculitis,SLE,orautoinflammatorysyndromes.

    Theonsetofsystemicarthritismaybecharacterizedbyfeverandrashbeforethedevelopmentofjointdisease.Itisunusual,however,forarthritistolagmorethanafewweeksaftertheonsetofthesystemicfeaturesofthedisease;inaddition,adiagnosisofsystemicJIAintheabsenceofarthritisshouldbeconsideredtentative.Oneshouldbeaware,however,thatarthritismaypresentinsomewhatunusualpatterns:forexample,thechildwithneckpainand

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    torticollis,fever,andrashmayhavearthritisinthecervicalspineandthediagnosisofsystemicJIA.ThefeverofsystemicJIAisspecificallyquotidian,andtherashisevanescentandmacular;theadditionalpresenceofsystemicinflammatoryfeaturesofserositis,splenomegaly,anaemia,leucocytosis,andmarkedlyraisedESRarehelpfulmarkersofdisease.

    Childrenwithvasculitismaypresentwithfeverandelevatedinflammatorymarkerswithoutobjectivephysicalsigns.InTakayasu'sarteritis,theremaybeaprolongedphaseofdiseasepriortodetectionofdeficienciesofperipheralpulses,makingdiagnosischallenging.Kawasaki'sdiseaseisusuallydiagnosedinchildrenearlyintheirfevercourse(withinthefirst10days);however,theremaybechildreninwhomthisdiagnosisismissed.Signsofrenaldisease,suchashypertensionorhaematuria,shouldbesoughtinchildrenwithFUO.Inpolyarteritis,thepresenceofpainfulsubcutaneousnodules,characteristicallyinthecalforsoleofthefoot,providestheopportunityforexcisionalbiopsy.

    LaboratoryinvestigationsThelaboratoryevaluationofachildwithpresumedrheumaticdiseaseservesthreefunctions:toprovideorexcludeevidenceofinflammation,toprovidediagnosticevidence,andtoexcludenon-rheumaticdiseases.

    Inscreeningforevidenceofinflammation,thewhitebloodcellcountanddifferential,haemoglobin,plateletcount,andESRorCRPgenerallysuffice.Somecluesfromthissimplebatteryoftestsmaybehelpful.AlowplateletcountinthepresenceofanelevatedESRshouldpromptconsiderationofanunderlyingmalignancy.InacuteKawasaki'sdisease,theplateletcountmayexceed10 ;childrenwithveryactivesystemiconsetJIAmayalsohaveextremeelevationsinplateletcounts.Decreasedserumalbumininachildwitharthritismaysuggestthepossibilityofinflammatoryboweldisease.

    Teststhathavediagnosticspecificityforrheumaticdiseasesarefewinnumber.Althoughanti-nuclearantibody(ANA)ispresentinmanychildrenwithawidevarietyofrheumaticdiseases,itoccursinnon-rheumaticdiseaseandhealthychildrenaswell. Inthecontextofachildwitharthritisorothersymptomsstronglysuggestiveofarheumaticcondition,theantigenicspecificityoftheANAshouldbedeterminedandmaybehelpful.Antibodytodouble-strandedDNAorextractablenuclearantigenssuchasSSA/Ro,SSB/La,andSmarehighlysuggestiveofadiagnosisofSLE.AntibodiestocardiolipinandotherphospholipidantigenscanbeseeninpatientswithSLE,butcanbefoundinchildrenwithotherrheumaticandnon-rheumaticconditionsaswell.ElevatedlevelsofvonWillibrandfactorantigenoftenoccurinpatientswithinflammationofbloodvessels,suchasTakayasu'sarteritis,butalsoarefrequentlyelevatedinchildrenwithjuveniledermatomyositiswhendiseaseisactive.HighlyelevatedserumferritincanbeseeninchildrenwithactivesystemicJIA,andmaybeamarkerofhaemophagocyticsyndrome,apotentiallyfatalcomplicationofthisdisease.Antineutrophilcytoplasmicantibodies(ANCA)areusefulmarkersofvasculitidesinchildrensuchasgranulomatouspolyangiitis(formerlycalledWegener'sgranulomatosis),microscropicpolyangiitis,andpolyarteritisnodosa.

    Thepresenceofarheumatoidfactor(RF)inachildwithmusculoskeletalpainisgenerallynothelpfulinmakingthediagnosisofarthritis.StudiesofthesensitivityandspecificityofRFinchildrenhaveshownthatithaslittlevalueasadiagnostictest.

    6

    25

    26

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    Somelaboratoryinvestigationsareusefulinexcludingratherthandiagnosingdisease.Normalwhitebloodcellandplateletcounts,ESR,andCRPmakethepossibilityofarheumatic,malignant,orinfectiousdiseaselesslikely.Normalradiographsmaybehelpfulinexcludingsomeconditions;however,recent-onsetpathologycannotbeexcluded.Technetiumbonescanscanbeveryusefulinthissituation,andanormalthree-phasebonescanvirtuallyexcludesboneorjointdiseaseinachildwithundiagnosedmusculoskeletalpain.

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