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Down Syndrome| best hospitals

<br>It is a well known fact that Down Syndrome is an incurable but proper medication can improve health condition and life expectancy. Down Syndrome article covers topics like Symptoms, Causes, Meaning, Facts, Types, About, Features, Information, Life expectancy, etc.<br>

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Down Syndrome| best hospitals

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  1. DownSyndrome Snippet:DownSyndromearticlecoverstopicslikeSymptoms, Causes,Meaning,Facts,Types,About,Features, Information,Lifeexpectancy,etc., ItisawellknownfactthatDownSyndromeisanincurablebut propermedicationcanimprovehealthconditionandlife expectancy.DownSyndromearticlecoverstopicslike Symptoms,Causes,Meaning,Facts,Types,About, Features,Information,Lifeexpectancy,etc., 1.WhatIsDownSyndrome? Ineverycellinthehumanbodythereisanucleus,wheregenetic materialisstoredingenes.Genescarrythecodesresponsiblefor allofourinheritedtraitsandaregroupedalongrod-like structurescalledchromosomes.Typically,thenucleusofeach cellcontains23pairsofchromosomes,halfofwhichareinherited fromeachparent.Downsyndromeoccurswhenanindividualhas afullorpartialextracopyofchromosome21. Thisadditionalgeneticmaterialaltersthecourseofdevelopment andcausesthecharacteristicsassociatedwithDownsyndrome.A fewofthecommonphysicaltraitsofDownsyndromearelow muscletone,smallstature,anupwardslanttotheeyes,anda singledeepcreaseacrossthecenterofthepalm–althougheach personwithDownsyndromeisauniqueindividualandmay possessthesecharacteristicstodifferentdegrees,ornotatall. 2.HowCommonIsDownSyndrome?

  2. AccordingtotheCentersforDiseaseControlandPrevention, approximatelyoneinevery700babiesintheUnitedStatesisbornwithDownsyndrome,makingDownsyndromethemostcommonchromosomalcondition.About6,000babieswithDownsyndromearebornintheUnitedStateseachyear. 3.WhenWasDownSyndromeDiscovered? Forcenturies,peoplewithDownsyndromehavebeenalludedto inart,literatureandscience.Itwasn’tuntilthelatenineteenth century,however,thatJohnLangdonDown,anEnglishphysician, publishedanaccuratedescriptionofapersonwithDown syndrome.Itwasthisscholarlywork,publishedin1866,that earnedDowntherecognitionasthe“father”ofthesyndrome. Althoughotherpeoplehadpreviouslyrecognizedthe characteristicsofthesyndrome,itwasDownwhodescribedthe conditionasadistinctandseparateentity. Inrecenthistory,advancesinmedicineandsciencehaveenabled researcherstoinvestigatethecharacteristicsofpeoplewithDown syndrome.In1959,theFrenchphysicianJérômeLejeune identifiedDownsyndromeasachromosomalcondition.Insteadof theusual46chromosomespresentineachcell,Lejeuneobserved 47inthecellsofindividualswithDownsyndrome.Itwaslater determinedthatanextrapartialorwholecopyofchromosome21 resultsinthecharacteristicsassociatedwithDownsyndrome.In theyear2000,aninternationalteamofscientistssuccessfully identifiedandcataloguedeachoftheapproximately329geneson chromosome21.Thisaccomplishmentopenedthedoortogreat advancesinDownsyndromeresearch.

  3. 4.TypesOfDownSyndrome 4.1.Trisomy21(Nondisjunction) Downsyndromeisusuallycausedbyanerrorincelldivision called“nondisjunction.”Nondisjunctionresultsinanembryo withthreecopiesofchromosome21insteadoftheusualtwo. Priortooratconception,apairof21stchromosomesineither thespermortheeggfailstoseparate.Astheembryodevelops, theextrachromosomeisreplicatedineverycellofthebody.This typeofDownsyndrome,whichaccountsfor95%ofcases,is calledtrisomy21. 4.2.Mosaicism Mosaicism(ormosaicDownsyndrome)isdiagnosedwhenthere isamixtureoftwotypesofcells,somecontainingtheusual46chromosomesandsomecontaining47.Thosecellswith47chromosomescontainanextrachromosome21. MosaicismistheleastcommonformofDownsyndromeand accountsforonlyabout1%ofallcasesofDownsyndrome. ResearchhasindicatedthatindividualswithmosaicDown syndromemayhavefewerfeaturesofDownsyndromethan thosewithothertypesofDownsyndrome.However,broad generalizationsarenotpossibleduetothewiderangeofabilities peoplewithDownsyndromepossess. 4.3.Translocation

  4. Intranslocation,whichaccountsforabout4%ofcasesofDown syndrome,thetotalnumberofchromosomesinthecellsremains 46;however,anadditionalfullorpartialcopyofchromosome21attachestoanotherchromosome,usuallychromosome14.Thepresenceoftheextrafullorpartialchromosome21causesthecharacteristicsofDownsyndrome. 5.WhatCausesDownSyndrome? RegardlessofthetypeofDownsyndromeapersonmayhave,all peoplewithDownsyndromehaveanextra,criticalportionofchromosome21presentinallorsomeoftheircells.ThisadditionalgeneticmaterialaltersthecourseofdevelopmentandcausesthecharacteristicsassociatedwithDownsyndrome. Thecauseoftheextrafullorpartialchromosomeisstill unknown.MaternalageistheonlyfactorthathasbeenlinkedtoanincreasedchanceofhavingababywithDownsyndromeresultingfromnondisjunctionormosaicism.However,duetohigherbirthratesinyoungerwomen,80%ofchildrenwithDownsyndromeareborntowomenunder35yearsofage. ThereisnodefinitivescientificresearchthatindicatesthatDown syndromeiscausedbyenvironmentalfactorsortheparents’ activitiesbeforeorduringpregnancy. Theadditionalpartialorfullcopyofthe21stchromosome whichcausesDownsyndromecanoriginatefromeitherthefather

  5. orthemother.Approximately5%ofthecaseshavebeentraced tothefather. 6.WhatAreTheSymptomsOfDownSyndrome? ThoughthelikelihoodofcarryingababywithDownsyndromecan beestimatedbyscreeningduringpregnancy,youwon’t experienceanysymptomsofcarryingachildwithDownsyndrome. 6.1.DownSyndromeBabySymptoms flatfacialfeatures smallheadandears shortneck bulgingtongue eyesthatslantupward atypicallyshapedears poormuscletone AninfantwithDownsyndromecanbebornanaveragesize,but willdevelopmoreslowlythanachildwithoutthecondition. PeoplewithDownsyndromeusuallyhavesomedegreeof developmentaldisability,butit’softenmildtomoderate.Mental

  6. andsocialdevelopmentdelaysmaymeanthatthechildcould have: impulsivebehavior poorjudgment shortattentionspan slowlearningcapabilities MedicalcomplicationsoftenaccompanyDownsyndrome. mayinclude: These congenitalheartdefects hearingloss poorvision cataracts(cloudedeyes) hipproblems,suchasdislocations leukemia chronicconstipation sleepapnea(interruptedbreathingduringsleep dementia(thoughtandmemoryproblems) hypothyroidism(lowthyroidfunction) obesity latetoothgrowth,causingproblemswithchewing Alzheimer’sdiseaselaterinlife

  7. PeoplewithDownsyndromearealsomorepronetoinfection. Theymaystrugglewithrespiratoryinfections,urinarytractinfections,andskininfections. 7.WhatIsTheLikelihoodOfHavingChildrenWithDown Syndrome? Downsyndromeoccursinpeopleofallracesandeconomiclevels, thougholderwomenhaveanincreasedchanceofhavingachild withDownsyndrome.A35yearoldwomanhasaboutaonein 350chanceofconceivingachildwithDownsyndrome,andthis chanceincreasesgraduallyto1in100byage40.Atage45the incidencebecomesapproximately1in30.Theageofthemother doesnotseemtobelinkedtotheriskoftranslocation. Sincemanycouplesarepostponingparentinguntillaterinlife, theincidenceofDownsyndromeconceptionsisexpectedtoincrease.Therefore,geneticcounselingforparentsisbecomingincreasinglyimportant.Still,manyphysiciansarenotfullyinformedaboutadvisingtheirpatientsabouttheincidencesofDownsyndrome,advancementsindiagnosis,andtheprotocolsforcareandtreatmentofbabiesbornwithDownsyndrome. 8.HowIsDownSyndromeInherited All3typesofDownsyndromearegeneticconditions(relatingto thegenes),butonly1%ofallcasesofDownsyndromehavea hereditarycomponent(passedfromparenttochildthroughthe genes).Heredityisnotafactorintrisomy21(nondisjunction)

  8. andmosaicism.However,inone-thirdofcasesofDownsyndrome resultingfromtranslocationthereisahereditarycomponent– accountingforabout1%ofallcasesofDownsyndrome. Theageofthemotherdoesnotseemtobelinkedtotheriskof translocation.Mostcasesaresporadic–chance–events.However,inaboutone-thirdofcases,oneparentisacarrierofatranslocatedchromosome. 9.WhatIstheLikelihoodofHavingaSecondChildwith DownSyndrome? Onceawomanhasgivenbirthtoababywithtrisomy21 (nondisjunction)ortranslocation,itisestimatedthatherchances ofhavinganotherbabywithtrisomy21is1in100upuntilage 40. Theriskofrecurrenceoftranslocationisabout3%ifthefatheris thecarrierand10-15%ifthemotheristhecarrier.Geneticcounselingcandeterminetheoriginoftranslocation. 10. 10.1. Treatment Prenatally TherearetwocategoriesoftestsforDownsyndromethatcanbe performedbeforeababyisborn:screeningtestsanddiagnostictests.Prenatalscreensestimatethechanceofthefetushaving

  9. Downsyndrome.Thesetestsdonottellyouforsurewhether yourfetushasDownsyndrome;theyonlyprovideaprobability.Diagnostictests,ontheotherhand,canprovideadefinitivediagnosiswithalmost100%accuracy. Thereisanextensivemenuofprenatalscreeningtestsnow availableforpregnantwomen.Mostscreeningtestsinvolvea bloodtestandanultrasound(sonogram).Thebloodtests(or serumscreeningtests)measurequantitiesofvarioussubstances inthebloodofthemother.Togetherwithawoman’sage,these areusedtoestimateherchanceofhavingachildwithDown syndrome.Thesebloodtestsareoftenperformedinconjunction withadetailedsonogramtocheckfor“markers”(characteristics thatsomeresearchersfeelmayhaveasignificantassociation withDownsyndrome).Newadvancedprenatalscreensarenow abletodetectchromosomalmaterialfromthefetusthatis circulatinginthematernalblood.Thesetestsarenotinvasive (likethediagnostictestsbelow),buttheyprovideahighaccuracy rate.Still,allofthesescreenswillnotdefinitivelydiagnoseDownsyndrome.Prenatalscreeninganddiagnostictestsarenowroutinelyofferedtowomenofallages. Thediagnosticproceduresavailableforprenataldiagnosisof Downsyndromearechorionicvillussampling(CVS)and amniocentesis.Theseprocedures,whichcarryuptoa1%riskof causingaspontaneoustermination(miscarriage),arenearly 100%accurateindiagnosingDownsyndrome.Amniocentesisis usuallyperformedinthesecondtrimesterbetween15and20 weeksofgestation,CVSinthefirsttrimesterbetween9and14 weeks.

  10. 10.2. AtBirth Downsyndromeisusuallyidentifiedatbirthbythepresenceof certainphysicaltraits:lowmuscletone,asingledeepcrease acrossthepalmofthehand,aslightlyflattenedfacialprofileand anupwardslanttotheeyes.Becausethesefeaturesmaybe presentinbabieswithoutDownsyndrome,achromosomal analysiscalledakaryotypeisdonetoconfirmthediagnosis.To obtainakaryotype,doctorsdrawabloodsampletoexaminethe baby’scells.Theyphotographthechromosomesandthengroup thembysize,number,andshape.Byexaminingthekaryotype, doctorscandiagnoseDownsyndrome.Anothergenetictestcalled FISHcanapplysimilarprinciplesandconfirmadiagnosisina shorteramountoftime. 11. WhatImpactDoesDownSyndromeHaveon Society? IndividualswithDownsyndromearebecomingincreasingly integratedintosocietyandcommunityorganizations,suchas school,healthcaresystems,workforces,andsocialand recreationalactivities.IndividualswithDownsyndromepossess varyingdegreesofcognitivedelays,fromverymildtosevere. MostpeoplewithDownsyndromehavecognitivedelaysthatare mildtomoderate. Duetoadvancesinmedicaltechnology,individualswithDown syndromearelivinglongerthaneverbefore.In1910,childrenwithDownsyndromewereexpectedtosurvivetoagenine.With

  11. thediscoveryofantibiotics,theaveragesurvivalageincreased to19or20.Now,withrecentadvancementsinclinicaltreatment,mostparticularlycorrectiveheartsurgeries,asmanyas80%ofadultswithDownsyndromereachage60,andmanyliveevenlonger.MoreandmoreAmericansareinteractingwithindividualswithDownsyndrome,increasingtheneedforwidespreadpubliceducationandacceptance. 12. DownSyndromeLifeExpectancy ThelifespanforpeoplewithDownsyndromehasimproved dramaticallyinrecentdecades.In1960,ababybornwithDown syndromeoftendidn’tseetheir10thbirthday.Today,life expectancyforpeoplewithDownsyndromehasreachedan averageof50to60years. Ifyou’reraisingachildwithDownsyndrome,you’llneedaclose relationshipwithmedicalprofessionalswhounderstandthe condition’suniquechallenges.Inadditiontolargerconcerns— likeheartdefectsandleukemia—peoplewithDownsyndrome mayneedtobeguardedfromcommoninfectionssuchascolds. PeoplewithDownsyndromearelivinglongerandricherlivesnow morethanever.Thoughtheycanoftenfaceauniquesetofchallenges,theycanalsoovercomethoseobstaclesandthrive.Buildingastrongsupportnetworkofexperiencedprofessionals

  12. andunderstandingfamilyandfriendsiscrucialforthesuccessof peoplewithDownsyndromeandtheirfamilies. 13. PreferredLanguageGuide UsethislanguagewhenreferringtoDownsyndromeandpeople whohaveDownsyndrome: PeoplewithDownsyndromeshouldalwaysbereferredtoas peoplefirst. Insteadof“aDownsyndromechild,”itshouldbe“achildwith Downsyndrome.”Alsoavoid“Down’schild”anddescribingtheconditionas“Down’s,”asin,“HehasDown’s.” Downsyndromeisaconditionorasyndrome,notadisease. People“have”Downsyndrome,theydonot“sufferfrom”itand arenot“afflictedby”it. “Typicallydeveloping”or“typical”ispreferredover“normal.” “Intellectualdisability”or“cognitivedisability”hasreplaced “mentalretardation”astheappropriateterm. NDSSstronglycondemnstheuseoftheword“retarded”inany derogatorycontext.Usingthiswordishurtfulandsuggeststhatpeoplewithdisabilitiesarenotcompetent. Downvs.Down’s NDSSusesthepreferredspelling,Downsyndrome,ratherthan Down’ssyndrome. DownsyndromeisnamedfortheEnglishphysicianJohnLangdon Down,whocharacterizedthecondition,butdidnothaveit.An “apostrophes”connotesownershiporpossession.

  13. WhileDownsyndromeislistedinmanydictionarieswithboth popularspellings(withorwithoutanapostrophes),thepreferredusageintheUnitedStatesisDownsyndrome.TheAPStylebookrecommendsusing“Downsyndrome,”aswell. 14. DownSyndromeFacts Downsyndromeoccurswhenanindividualhasafullor partialextracopyofchromosome21.Thisadditionalgenetic materialaltersthecourseofdevelopmentandcausesthe characteristicsassociatedwithDownsyndrome TherearethreetypesofDownsyndrome:trisomy21 (nondisjunction)accountsfor95%ofcases,translocation accountsforabout4%,andmosaicismaccountsforabout 1% Downsyndromeisthemostcommonlyoccurring chromosomalcondition.Approximatelyoneinevery700 babiesintheUnitedStatesisbornwithDownsyndrome– about6,000eachyear Downsyndromeoccursinpeopleofallracesandeconomic levels TheincidenceofbirthsofchildrenwithDownsyndrome increaseswiththeageofthemother.Butduetohigher fertilityratesinyoungerwomen,80%ofchildrenwithDown syndromeareborntowomenunder35yearsofage PeoplewithDownsyndromehaveanincreasedriskfor certainmedicalconditionssuchascongenitalheartdefects, respiratoryandhearingproblems,Alzheimer’sdisease, childhoodleukemiaandthyroidconditions.Manyofthese conditionsarenowtreatable,somostpeoplewithDown syndromeleadhealthylives AfewofthecommonphysicaltraitsofDownsyndromeare: lowmuscletone,smallstature,anupwardslanttotheeyes,       

  14. andasingledeepcreaseacrossthecenterofthepalm. EverypersonwithDownsyndromeisauniqueindividualand maypossessthesecharacteristicstodifferentdegreesornot atall LifeexpectancyforpeoplewithDownsyndromehas increaseddramaticallyinrecentdecades–from25in1983 to60today PeoplewithDownsyndromeattendschool,work,participate indecisionsthataffectthem,havemeaningfulrelationships, voteandcontributetosocietyinmanywonderfulways AllpeoplewithDownsyndromeexperiencecognitivedelays, buttheeffectisusuallymildtomoderateandisnot indicativeofthemanystrengthsandtalentsthateach individualpossesses Qualityeducationalprograms,astimulatinghome environment,goodhealthcareandpositivesupportfrom family,friendsandthecommunityenablepeoplewithDown syndrometoleadfulfillingandproductivelives     15. References https://www.ndss.org/ https://www.healthline.com

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