What is Down Syndrome? - Being Well...Down Syndrome have physical therapy and/or occupational...
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What is Down Syndrome? What is Down Syndrome? • Down Syndrome is the most common genetic syndrome in America. • Down Syndrome is a condition that a person is born with and will have his or her whole life. • Down Syndrome occurs when a person gets an extra gene during fetal development. People with Down Syndrome have an extra copy of chromosome Number 21. Instead of the usual two copies, there are three copies of chromosome number 21. This is why Down Syndrome is also called Trisomy 21 (Tri = three). A collaborative effort of Children’s Hospital of Pittsburgh of UPMC and The Pennsylvania Child Welfare Resource Center Jennifer E. Wolford, DO, MPH, FAAP Children’s Hospital of Pittsburgh, Division of Child Advocacy page 1 of 4 Rachel P. Berger, MD, MPH Children’s Hospital of Pittsburgh Division of Child Advocacy Adelaide L. Eichman, MD Children’s Hospital of Pittsburgh Division of Child Advocacy • Down Syndrome is not contagious • This tiny extra chromosome has a big impact on the life of a person with Down Syndrome
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.
