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

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The child patient Page 1 of 19 PRINTED FROM OXFORD MEDICINE ONLINE (www.oxfordmedicine.com). © Oxford University Press, 2015. All Rights Reserved. Under the terms of the licence agreement, an individual user may print out a PDF of a single chapter of a title in Oxford Medicine Online for personal use (for details see Privacy Policy ). Subscriber: Cristian Ninulescu; date: 16 July 2015 Publisher: Oxford University Press Print Publication Date: Oct 2013 Print ISBN-13: 9780199642489 Published online: Oct 2013 DOI: 10.1093/med/9780199642489.001.0001 Chapter: The child patient Author(s): Lori B. Tucker DOI: 10.1093/med/9780199642489.003.0001 Oxford Medicine Online Oxford Textbook of Rheumatology (4 ed.) Edited by Richard A. Watts, Philip G. Conaghan, Christopher Denton, Helen Foster, John Isaacs, and Ulf Müller-Ladner Latest update In November 2014, 80 chapters were updated. Numerous updates have been made – including to the chapters on Rheumatoid Arthritis, the Genetics and Environment section, the Management section, and much more. We also welcome two new authors – Sebastien Viatte and Charles Raine. The child patient Introduction Musculoskeletal complaints in children are very common, and most are generally inconsequential and self-resolving. However, it is important to differentiate children with minor problems from those who have developed a more serious musculoskeletal problem possibly associated with long-term illness. This is frequently challenging to the clinician, as the differential diagnosis of conditions associated with musculoskeletal complaints is broad and children present special circumstances to consider. The spectrum of childhood rheumatic

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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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    14.MannersPJ,BowerC.Worldwideprevalenceofjuvenilearthritis:whydoesitvarysomuch?JRheumatol2002;29(7):15201530.

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