What is Down Syndrome? - Being Well...Down Syndrome have physical therapy and/or occupational...
Transcript of What is Down Syndrome? - Being Well...Down Syndrome have physical therapy and/or occupational...
What is Down Syndrome?
What is Down Syndrome?
• DownSyndromeisthemostcommongenetic syndromeinAmerica.
• DownSyndromeisaconditionthataperson isbornwithandwillhavehisorherwholelife.• DownSyndromeoccurswhenapersongets anextrageneduringfetaldevelopment. PeoplewithDownSyndromehaveanextra copyofchromosomeNumber21. Insteadoftheusualtwocopies,thereare threecopiesofchromosomenumber21. ThisiswhyDownSyndromeisalsocalled Trisomy21(Tri=three).
AcollaborativeeffortofChildren’sHospitalofPittsburghofUPMCandThePennsylvaniaChildWelfareResourceCenter
Jennifer E. Wolford, DO, MPH, FAAPChildren’s Hospital of Pittsburgh,Division of Child Advocacy
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Rachel P. Berger, MD, MPHChildren’s Hospital of PittsburghDivision of Child Advocacy
Adelaide L. Eichman, MDChildren’s Hospital of PittsburghDivision of Child Advocacy
• DownSyndromeisnotcontagious
• Thistinyextrachromosomehasabigimpactonthelifeofapersonwith DownSyndrome
How Is Down Syndrome Diagnosed?
• DownSyndromecanbediagnosedbeforeababyisborn,butsometimesisn’tdiagnosed untilafterbirth.
• Onceababyisborn,DownSyndromecanbediagnosedbyexaminingachild.Childrenwith DownSyndromehavecharacteristicfeaturessuchas: • Lowmuscletone(hypotoniaor“floppiness”) • Upwardslantoftheeyes • Smallsize • Singlecreaseacrossthepalmandawidespacebetweenthebigtoe andthesecondtoe
• Geneticstudiesarealsosenttoconfirmthediagnosis.
What Medical Problems Are Associated with Down Syndrome?
• DownSyndromecancausemanytypesofpossiblemedicalproblems.Noteverychild withDownSyndromewillhaveallofthesemedicalproblems.
• Heart problems:ChildrenwithDownSyndromeareoftenbornwithheart problems.Theseverityoftheseheartproblemscanvary;somechildrenwill havetoseethecardiologist(heartdoctor)onlyoccasionally,whileother childrenwillhavetoundergomultiplesurgeries.
• Intellectual disabilities:Theseverityofintellectualdisabilitiesandlearning problemscanvaryamongchildrenwithDownSyndrome.Somechildrenwill beabletobeveryself-sufficientintheiradultlives,whileotherswillrequire moresupport.
• Feeding problems:ChildrenwithDownSyndromeoftenhavepoortoneorare “floppy,”andcanhaveproblemseatingininfancy.Somebabiesneedtosee specialdoctorstohelpwiththeireating,andsomerequirefeedingtubes.
• Eye problems:Somebabiesarebornwithcataracts,whichisacondition wheretheclearlensoftheeyeisclouded.Childrenwithcataractsareseen bytheophthalmologist(eyedoctor).
What is Down Syndrome?
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What is Down Syndrome?
What Medical Problems Are Associated with Down Syndrome? (continued)
• Ear and hearing problems:SomechildrenwithDownSyndromeareborn withhearinglossandrequirespecialtestingandsometimeshearingaids. MostchildrenwithDownSyndromehavesmallearcanals,andmanyare seenbytheotolaryngologist(ear,nose,andthroatdoctor,orENT).Many needeartubes.
• Intestinal problems:DownSyndromecancauseconditionscalledduodenal atresiaandanorectalatresia/stenosis,inwhichpartoftheguthasnot formednormally.Theseconditionsrequiresurgerybyapediatricsurgeon. ChildrenwithDownSyndromeoftenhaveconstipationaswellandoften needtoseeagastroenterologist(GIdoctor).
• Increased risk of cancer and other blood disorders:DownSyndrome increasestheriskofLeukemia.Routinebloodcountsaresent,and caretakersarecounseledaboutthesignsandsymptomsofLeukemia.
• Thyroid problems:Childrenwith DownSyndromeoftenhave hypothyroidism,whichislow thyroid.Thisconditionrequires dailymedicationmanagedbyan endocrinologist(hormonedoctor).
What Are the Treatments for Down Syndrome?
• Thereisno“cure”forDownSyndrome.
• However,therapiescanhelpmaximizeachild’spotential.Mostchildrenwith DownSyndromehavephysicaltherapyand/oroccupationaltherapyforsome timeintheirlives.ItisimportantforachildtobeevaluatedbyEarly Intervention(AllianceforInfants)asearlyaspossible.
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Content Sources:American Academy of Pediatrics. 2013. “Health Care Information for Families of Children with Down Syndrome.”http://www.healthychildren.org/English/health-issues/conditions/developmental-disabilities/Documents/Health_Care_Information_for_Families_of_Children_with_Down_Syndrome.pdf.
Bull, Marilyn J., and the Committee on Genetics. 2011. “Clinical Report—Health Supervision for Children With Down Syndrome.” Pediatrics 128(2): 393–406.
HealthyChildren.org. 2015. “Children with Down Syndrome: Health Care Information for Families.” http://www.healthychildren.org/English/health-issues/conditions/developmental-disabilities/Pages/Children-with-Down-Syndrome-Health-Care-Information-for-Families.aspx.
Hobson-Rohrer, Wendy L., and Lisa Samson-Fang. 2013. “Down Syndrome.”Pediatrics in Review 34(12): 573–74. National Down Syndrome Society. “What Is Down Syndrome?” http://www.ndss.org/Down-Syndrome/What-Is-Down-Syndrome/.
What is Down Syndrome?
What Are the Treatments for Down Syndrome? (continued)
• A child should see the pediatrician regularly for routine check-ups. Some children’s hospitals have Down Syndrome specialists who see children once per year, and help coordinate all the care needed for a child with Down Syndrome.
• It is important that a caretaker be able to keep track of the required appointments, because different doctors take care of different issues.