Download - What is Down Syndrome? - Being Well...Down Syndrome have physical therapy and/or occupational therapy for some time in their lives. It is important for a child to be evaluated by Early

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).


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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 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.