EducationofchildrenwithSanfilipposyndrome:Aguideforeducators

WhatisSanfilipposyndrome?MucopolysaccharidosestypeIII(MPSIII)isatypeofmetabolicdisorderknownasSanfilipposyndrome.Dr.SylvesterSanfilippowasoneofthedoctorsintheUnitedStateswhodescribedtheconditionin1963.Todate,fourdifferentenzymedeficiencieshavebeenfoundtocauseMPSIIIsyndrome,andthereforetheconditionisdescribedastypeA,B,C,orD.Thereisusuallyverylittledifferencebetweenthefourtypesofthedisease,butthecognitivedeclineintypesB,C,andDtendstobelaterthanintypeA.Background

• SanfilipposyndromeisalsocalledMPSIII(MucopolysaccharidosestypeIII).• Sanfilipposyndromeisaprogressive,life-limiting,inheritedmetabolicdisease.• ChildrenwithSanfilipposyndromealsohavemedicalissues,includinghearingloss,poor

visualacuity,andskeletalabnormalities.• Itisrare,affectingapproximately1in70,000people.• ThemoststrikingfeatureofSanfilipposyndromeisdevelopmentaldecline,leadingto

thebehavioralproblemsincludinghyperactivity,impulsivity,aggression,andpoorsleep.• Atthistime,therearenoapprovedtreatmentsavailableintheUS.Thereisnocurefor

Sanfilipposyndrome.Sanfilipposyndromeisastageddisorder:

• Itisvitaltonotethattheprogressionofthisdiseasecausesregression.Thenaturalcourseofthediseasecauseschildrentoloseskills,sothemostimportantthingwecandoishelpthesechildrenmaintaintheskillsthattheyhave.

• EducatorsshouldnevergiveuponachildduetoadiagnosisofSanfilipposyndrome.WhatshouldachildwithSanfilipposyndrome’sschoolplanaddress?

Inclusion

• Thisisachoicethatinevitablyshouldbemadebytheparent.Keepinmindthatasthediseaseprogressestheirfeelingsabouttheimportanceofinclusionmaychange.

• Someparentsfindsolaceinthefactthatthechildrenwhoattendschoolwiththeirchildrememberthemtalkingandwalkingindependently,eventhoughshehassincelostthoseskills.

• Otherfamiliesfeeltheneedofinclusioncanbefoundthroughotheravenues(siblinginteraction,socialgroups)andaneducationalprogramthatpushestheirchildismoreimportant.Thismaymeanthatthechildisinaspecialtypeofschoolorclassroom,becausetheirneedscannotbemetinaninclusionsetting.Thesefeelingscanchangeovertime.

PhysicalAbility

• ThephysicalabilityofachildwithSanfilippoisgoingtobeveryspecifictowhereintheprogressionofthediseasethechildis.Somechildrenmaybewalking,somemayneedassistance,somemaybeinawheelchairforpartofthedaywhilestillworkingonmaintainingstrength,andsomemayneedmoreconstantaid.

• Physicaltherapyisveryimportant.AmotherofadaughterwithSanfilipposyndromesaid,“…thephysicaltherapyis-Ifeellikeisthemostimportant…Shehascompletelylosttheabilitytowalkindependently…butthefactthatshe’sstillupeverydaywalkinginthewalkerandinthestander,Ithinkthathasreallybeengoodforherphysicalhealth…”

• Someparentsfeelthatmaintainingcorestrengthhelpstoslowtheprogressionofdisease.

Communication

• SomechildrenwithSanfilipposyndromedonotcommunicateverbally.Manyofthechildrenwhoareverbalcanbedifficulttounderstand.

• Parentstypicallyuseemotionalcues,gestures,andfacialexpressionstounderstandhowtheirchildisfeelingorwhattheirneedsare.Thiscanbedifficultforeducatorswhoarenotasfamiliarwiththechild.

• SomechildrenwithSanfilipposyndromehavedoneverywellwithassistedtechnologydevicestocommunicate(suchasaniPad).

• Itisveryimportanttonotethatanytimeachildcannotcommunicateaseffectivelyastheywouldliketoitisgoingtoaffecttheirbehavior.Oneparentnotes,“ifsheneededtoexpresssomethingandthatwasthefastestwaytodoit[hittingsomeone]-...togetattentionshewoulddothat.”

BehaviorConcerns

• Aswithotheraspectsofthedisease,thebehaviorofachildwithSanfilipposyndromecanchangedramaticallyovertime.Erraticordifficultbehaviorcanbepresentintheearlystages,andthencanprogresstomoredocilebehaviorinthelaterstages.

• Behaviorsaretypicallythemostchallengingduringstagetwoofthedisease.• AmotherofasonwithSanfilipposyndromesaid,“Onabadday-biting,hitting,pinching,

tempertantrums.That...youjusthavetolethimgetitoutofhissystem...”• Eachchildwillbecompletelyunique.

PositiveSchoolInterventions

• ManyschoolshavedoneanamazingjobdiscoveringalternativetherapiesthatallowachildwithSanfilipposyndrometothrive.Theseinclude:

o Adaptivephysicaleducationo Musictherapyo Swimmingo Art

o Asensoryroomo Alternativebreakssuchasa

walkinthehall(asneeded)

• Alternativetherapiesallowthechildtoworkonmaintainingtheirskillswhilealsoenjoyingtheirtimewhiletheyaredoingit.Thesechildrenhaveashortenedlifespanandeducatorsneedtobalancethegoaloflearningwiththechild’shappiness.

IndividualizedEducationPlans(IEPs)

• IEPsaretraditionallywrittenforachildwhowillcontinuallymakeprogress.Educatorssetagoal,thechildachievesit,andanewgoalisset.ThisconventiondoesnotworkwithchildrenwithSanfilipposyndromeinthelaterstagesofthedisease.

• AmotherofadaughterwithSanfilipposyndrome,”…whenyouformulateanIEPyouareconstantlywantingachildtolearnnewthings...it’sdifficultformosteducatorstoshiftgearsandtounderstandSanfilippobutalsonotbetooscaredbythediagnosis.”

• FormulateanIEPthatisdesigneduniquelyforachildwithdevelopmentalregression.Keepinmindthecurrentskillsofthechild,theparent’sgoalsfortheirchild,knowledgeaboutthedisease,andtheuseofalternativetherapies.

• SettingappropriateIEPsthatarerealistichelpthefamilyandtheeducationteamhaveonecentralgoal.

Support

• ChildrenwithSanfilipposyndromebringanamazinggifttothosewhoknowthem,butitcanbeaverydifficultdiagnosis.Parentsnotethathavingcommunitysupporthelpthemcope.

• TherearemanygreatMPSIIIgroupsonsocialmediathatparents/family/friendscanjoinforadditionalsupport.

• TheNationalMPSSocietycanconnectfamiliesandhaveanarrayoffamilysupportprograms(http://mpssociety.org/).

Conclusions

• ChildrenwithSanfilipposyndromecanthriveinavarietyofschoolsettings,andtheidealplacementultimatelydependsontheparent’spersonalgoalsfortheirchild

• Difficultieswithcommunication,mobility,andbehavioraffecthowchildrenwithSanfilipposyndromeexperienceeducation.

• IEPsshouldaccommodatetheskillsofthechild,knowledgeofdisease,andgoalsoftheparents.

• Life-limitingconditionsarechronicallydifficulttomanagefornotonlytheparentsbutalsotheentirefamily.

HowcanIlearnmoreaboutthiscondition?

• Pleaseasktheparents!Thisisanextremelyrareconditionandthereforemostpeoplehaveneverheardofitbefore.Rememberthatparentslivewiththisdiagnosisandknowtheirchildbest.

• Askfordocumentationfromtheirmedicalcareteam.Thesechildrenhavededicateddoctorswhosenotesmaybehelpfultoyou.

• TheNationalMPSSociety:http://mpssociety.org/

ThishandoutisbasedonuponanIRBapprovedresearchprotocol.(EducationofchildrenwithSanfilipposyndrome:Identificationofneeds,challenges,andservicesrequiredforchildrenwithSanfilipposyndromebytheirparentsbyLaurenGotsell,MS,CGC,StephanieHarris,MS,CGC,MaryAnnCampion,EdD,MS,CGC,LaurelCalderwood,MS,CGC,atBostonUniversitySchoolofMedicine)