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What is Angelman Syndrome

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Angelman syndrome (AS) is a rare neuro-genetic disorder that occurs in one in 15,000 live births or 500,000 people worldwide. It is caused by a loss of ... arareneuro-geneticdisorderWhatisAngelmanSyndrome Angelmansyndrome(AS)isarareneuro-geneticdisorderthatoccursinonein15,000livebirthsor500,000peopleworldwide.ItiscausedbyalossoffunctionoftheUBE3Ageneinthe15thchromosomederivedfromthemother.Angelmansyndromesharessymptomsandcharacteristicswithotherdisordersincludingautism,cerebralpalsyandPrader-Willisyndrome.Duetothecommoncharacteristics,misdiagnosisoccursoften.PeoplewithAngelmansyndromehavedevelopmentalproblemsthatbecomenoticeablebytheageof6–12months.Othercommonsignsandsymptomsusuallyappearinearlychildhoodlikewalkingandbalancedisorders,gastrointestinalissues,seizuresandlittletonospeech.Despitethesesymptoms,peoplewithAngelmansyndromehaveanoverallhappyandexcitabledemeanor.AnindividualwithASwilllightuparoomwiththeirsmileandlaughter.FindoutmoreaboutCausesandTypesofAngelmansyndrome ACureforAngelmanSyndromeItisbelievedthatthereisahighchanceoffindingacureforAngelmansyndrome,duetothefactthatscientistsknowwhatcausesASandhavebeenabletoreverseitinmousemodels.WatchDr.ArthurBeaudetdiscussacureforAS: PrognosisandLifeExpectancySomesymptomsofAngelmansyndromeimproveasindividualsgetolder. Sleepissuesandseizurestendtobecomelesssevereorinfrequent. Becauseofmobilityissues,obesityandscoliosiscandevelopinadolescence.ThelifeexpectancyofpeoplewithAngelmansyndromeisnormal. Angelmansyndromeitselfdoesnotcausedeath.However,therecanbeseverecomplicationsduetosomeofthesymptomsofthesyndrome,suchasseizuresandaspirationpneumonia. Thereisalsothepossibilityofaccidentsduetowalkingandbalanceissuesandattractiontowaterthatcancausesevereinjury.IndividualswithASwillrequirelife-longcare,butcanlivelong,happylives.Findoutmoreaboutthe NaturalHistoryStudy thatisbuildingabetterunderstandingofASthroughalifetime. HistoryofAngelmanSyndrome AngelmansyndromewasfirstidentifiedbyDr.HarryAngelman,anEnglishphysicianatWarringtonGeneralHospital. Dr.Angelmanfirstobservedthreechildrenwhowereunrelatedbutshowedsimilarsymptomsofsevereintellectualdelay,stiff,jerkygait,lackofspeech,seizures,motordisordersandahappydemeanor.  Then,whilevacationinginItaly,Dr.Angelmanobservedanoilpaintingcalled…ABoywithaPuppet bytherenaissanceartistGiovanniFrancescoCarotoattheCastelvecchiomuseuminVerona.Remindedofthechildren, Dr.Angelmanpublishedapaperin1965 thatdescribedwhathecalled“puppetchildren”.  Itwasn’tuntil1982,whenDr.CharlesWilliamsandDr.JaimeFriasofthedepartmentofPediatrics,DivisionofGenetics,UniversityofFloridaCollegeofMedicine,GainesvillesubmittedapapertotheAmericanJournalofMedicalGenetics.Thepaperreportedstudiesofsixpatientsandcomparedtheirdatatothosefrompreviousreports.Itsighted–severedevelopmentaldelay,“puppet-like”gait,craniofacialabnormalities,andfrequentepisodesoflaughter.Itbecameclearthesyndromewasmorecommonthanpreviouslythought.TheyproposedthenameofthisdisorderbechangedtoAngelmanSyndrome.In1986,Dr.WilliamsstartedtheAngelmanResearchGroup(ARG)forfacilitatingresearchandeducationofAngelmansyndrome. Afewyearslater,in1990,theARGbecametheAngelmanSyndromeFoundation.SeemoreaboutthehistoryoftheASF. AngelmanSyndromeHelpfulinformation AngelmanSyndromeFoundationPSAVIDEo WatchVideo AngelmanJourneybrochure DownloadPDF OurDaughter'sRareDiagnosis WatchVideo FactSheetAboutAngelmansyndrome DownloadPDF ASFWalk Theannualeventatover40locationsthatbringstogethertheAScommunitytofundresearchandfamilysupport. Learnmore SeemoreaboutthehistoryoftheASF Seemilestonesinthemorethan25yearhistoryoftheASF. learnmore NewlyDiagnosed? WasyourchildrecentlydiagnosedwithAS? Findoutwhatnow

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