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1、Prader-WilliSyndromePrader-WilliSyndromeAssociation(USA)8588PotterParkDrive,Suite500Sarasota,FL34238(800)926-4797pwsausa@pwsausa.orghttp://www.pwsausa.org"StrengtheningAwarenessThroughKnowledgeandCommunication"Prader-WilliSyndromeIncreasedAwarenessofPWSMeans…MoreDiagnosesandEarlierIdentificationwhic
2、hleadsto…EarlyInterventionServicesandAppropriateTreatmentandManagementStrategieswhichleadsto…ImprovedQualityofLifeforIndividualsBornwiththeSyndromeandtheirFamiliesWilliam,2yrsAspyn,6mo1DocumentedcasesofPWSgobacktothe17thCenturyPrader-WilliSyndrome2Prader-WilliSyndromeIn1956,PWSwasidentifiedasaconste
3、llationofsymptomsbySwissphysiciansA.Prader,H.WilliandA.LabhartPWSisalifelong,life-threatening,non-inheritedgeneticdisorderthatresultsfromadefectonChromosome15PWSoccursin1in12,000-15,000births,orapproximately25,000peopleinU.S.Ofthese,75-80%areeitherundiagnosedorunknowntoPWSA(USA).InNV,thereareonly39k
4、nowncasesofPWS;13ofwhichareinthegreaterLasVegasarea.Thereareanadditional70-75%eitherundiagnosedorunknowntoPWSA(USA).PWSequallyaffectsallracesandbothsexes.3Prader-WilliSyndromeTwomajortypesofPWS–Deletion(70%);UniparentalDisomy(UPD)(25%);Other(5%)PWSisnoweasilydiagnosedwithabloodtestPWSisoneofthe10mos
5、tcommonconditionsseeningeneticsclinics,andisthemostcommongeneticcauseofobesityWithoutintervention,PWSleadstoobesity-relatedmedicalproblemsandeventualprematuredeath4ClinicalFeaturesPWScanbethoughtofasaTwo-stageDisorderStage1–InfancyStageLowbirthweightandsubsequentfailuretothriveSeveremuscleweakness(h
6、ypotonia),excessivesleepinessSuck/swallowproblems,reflux,respiratoryproblemsSubtledysmorphicfacialfeaturessuchas“triangle”shapedmouth,narrowforehead,almond-shapedeyesUnderdevelopedsexualorgans(smalllabiamajoraingirls,smallpenis&undescendedtestesinboys)Delayedmotor/physicalmilestones5ClinicalFeatures
7、Stage2–HungerStageBetweenages2-6,hyperphagiasymptomsbeginwithapreoccupationwithfoodand/orcompulsiontoeatVoraciousappetitebeginsasbraindoesnotreceive/processsignalsoffeeling“full”Slowmetabolicratecause
