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Down Syndrome


Down Syndrome Objectives Be familiar with the genetic basis for Down Syndrome Know the common physical stigmata of Down Syndrome Be comfortable caring for children ... – PowerPoint PPT presentation

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Title: Down Syndrome

Down Syndrome
  • Be familiar with the genetic basis for Down
  • Know the common physical stigmata of Down
  • Be comfortable caring for children with Down
    Syndrome and what testing and routine care is

  • Most commonly recognized genetic cause of mental
    retardation prevalence of 9.2 cases per 10,000
    live births
  • Diagnosed by Karyotype
  • 95 - Trisomy 21
  • 2 - Mosaicism (mix of diploid and trisomy 21)
  • 3 - Robertsonian translocation (part or all of
    extra chromosome 21 fused with another chromosome)

  • 95 percent of occurrences of trisomy 21 result
    from nondisjunction during meiotic division of
    the primary oocyte
  • Most trisomy 21 pregnancies prove to be nonviable
  • 1/4 of fetuses with trisomy 21 survive to term

Etiology Risk Assessment
  • Maternal Age
  • 1/1,300 for a 25-year-old woman
  • 1/365 for age 35
  • 1/30 for age 45
  • At age 35, the second-trimester prevalence of
    trisomy 21 (1/270) approaches the estimated risk
    of fetal loss due to amniocentesis (1/200) This
    became cutoff for screening

Advanced Maternal Age as Risk Factor
Etiology Risk Assessment
  • 15-18 Weeks Gestation triple test detects 60
    of pregnancies affected by trisomy 21
  • False positive rate about 5
  • Alpha-fetoprotein (AFP), unconjugated estriol and
    human chorionic gonadotropin (hCG)
  • Ultrasound in 1st trimester increases
    sensitivity to close to 80 with no change in
    false positive rate

Etiology Risk Assessment
  • Ultrasound in 2nd trimester findings possible
  • Intrauterine growth restrictionMild cerebral
    ventriculomegalyChoroid plexus cystsIncreased
    nuchal fold thicknessCystic hygromasEchogenic
    intracardiac fociCongenital heart
    defectsIncreased intestinal echogenicityDuodenal
    atresia ("double-bubble sign")Renal pelvis
    dilationShortened humerus and femurIncreased
    iliac wing angleIncurving (clinodactyly) and
    hypoplasia of the fifth fingerIncreased space
    between first and second toesTwo-vessel
    umbilical cord


Etiology Risk Assessment
Diagnostic procedure Gestational age when test is done (weeks) Risk of fetal loss ()
Early amniocentesis 10 to 12 0.5 to 1.5
Early amniocentesis 12 to 15 1.0 to 2.0
2nd-trimester amniocentesis 15 to 20 0.5 to 1.0
Clinical Findings
  • Brachycephaly 63-98
  • Oblique palpebral
  • fissures 70-98
  • 1st 2nd toe gap 44-97
  • Loose skin on neck 17-94
  • Hyperflexibility 47- 92
  • Ear abnormalities
  • (low folded, stenotic) 28-91
  • Protruding tongue and
  • small, narrow palate 32-89
  • Flat nasal bridge 57-87
  • Muscular hypotonia 21-85
  • Epicanthal folds 28-79
  • Brushfield spots (ring
  • of iris speckles) 35-78
  • Short fifth finger 51-77
  • In-curved fifth finger 43-77
  • Short broad hands 38-75
  • High arched palate 59-74
  • Single palmar crease 42-64
  • Cardiac defect
  • (1/2 AV canal defects) 40-50
  • Transient myelodysplasia
  • of the newborn 10
  • Duodenal atresia 5-8
  • Yellow - Highly specific to Down Syndrome

(No Transcript)
Medical Problems By System
  • ALL newborns with the syndrome should have an
    electrocardiogram and a screening echocardiogram,
    even if a murmur is not present.
  • Most common anomalies are
  • complete atrioventricular canal defects (60
  • ventricular septal defects (32 percent)
  • tetralogy of Fallot (6 percent)
  • ostium secundum atrial septal defect (1 percent)
  • The long-term prognosis is best when an infant
    with a cardiac defect is promptly referred to a
    pediatric cardiologist for medical management to
    prevent pulmonary hypertension or to a pediatric
    cardiac surgeon for early surgical repair

  • Various defects are associated with Down
    syndrome Esophageal atresia, Tracheoesophageal
    fistula, Pyloric stenosis, Duodenal atresia,
    Meckel's diverticulum, Hirschsprung's disease,
    Imperforate anus
  • GERD may require medication
  • Constipation usually dietary management is

Ear, Nose and Throat Problems
  • Midfacial malformations prevent optimal drainage
    of eustachian tubes and sinuses
  • susceptible to otitis media, sinusitis and
  • sequelae can include hearing loss, chronic
    infection, pneumonia, sepsis, endocarditis or
    congestive heart failure in infants with
    concomitant heart defects
  • Auditory brainstem response testing to evaluate
    for hearing loss should be performed when an
    infant with Down syndrome by 6 months old

Orthopedic Problems
  • Associated problems Atlanto-occipital
    instability, Atlantoaxial instability,
    Hyperflexibility, Scoliosis, Late hip dislocation
    (after two years of age), Slipped capital femoral
    epiphysis, Patellar subluxation or dislocation,
    Foot deformities
  • Xrays of the flexed and extended cervical spine
    were recommended as screening tests in the past
    for atlantoaxial instability when children with
    Down syndrome reach the age of two years or
    before they undergo general anesthesia
  • Although screening radiographs are controversial,
    13 of children with Down syndrome have
    asymptomatic atlantoaxial instability that should
    be monitored and that precludes their
    participation in contact sports
  • ALL children with Down Syndrome should be
    referred to Early Intervention from birth for
    physical therapy services

Endocrine Disorders
  • Thyroid Disease thyroid function tests should
    be done at birth and at least annually
  • Gonadal dysfunction and growth hormone deficiency
    - These problems may require hormonal therapy

  • Congenital cataracts - occurs more frequently in
    children with Down syndrome than in other
  • Red (fundus) reflexes should be checked at birth.
  • Consultation with a pediatric ophthalmologist
    during the first year is necessary
  • Ocular problems that may be correctable
    Congenital and acquired cataracts, Nystagmus,
    Strabismus, Dacryostenosis, Blepharitis,
    Keratoconus, Refractive errors (myopia,
    astigmatism), Amblyopia, Increased retinal
    vasculature, Glaucoma

Other Systems
  • Transient myeloproliferative disorder (leukemoid
    reaction) occurs in 10
  • Learning point normal infants who exhibit
    leukemoid reactions within the 1st two months of
    life should be evaluated by karyotype for mosaic
    Down syndrome
  • Seizures - 5-10 of Down Syndrome children
  • Dental Delayed eruption, Atypical patterns of
    eruption, Congenitally missing teeth, Unusually
    shaped teeth, Enamel defects, Orthodontic
    problems, Bruxism, Periodontal disease

Psychosocial Issues
  • Initial Counseling
  • If not sure of the diagnosis when initial testing
    done, say so. We are concerned that your child
    shows some signs of Down Syndrome and with your
    permission I would like to draw blood and test
    for this. You should point out what physical
    traits you see to help with denial by the
  • Try to have both parents present when you talk to
    them - The parents may react with shock, denial,
    anger, grief, fear, acceptance or any combination
    of these emotions. The physician should
    acknowledge the parents' feelings and their right
    to have them
  • The infant should be referred to by name, so that
    his or her worth as a human being can be stressed.

Psychosocial Issues
  • The mother and father may benefit from an
    opportunity to meet with the parents of an older
    child with Down syndrome. Such a meeting may
    provide tangible proof that a child with Down
    syndrome can thrive and become a vital part of
    the family
  • Provide web based and written resources

Final Note
  • Life tables published in 1989 showed that more
    than 50 percent of infants with Down syndrome
    could be expected to live more than 50 years
  • As mortality rates for the operative repair of
    congenital heart defects continue to decrease,
    survival may increase considerably

  • Books
  • Libby Kumin. Communication skills in children
    with Down syndrome a guide for parents.
    Rockville, Md. Woodbine House, 1994.
  • Siegfried M. Pueschel. A parent's guide to
    Down syndrome toward a brighter future.
    Baltimore Paul H. Brookes, 1990.
  • Kay Stray-Gundersen, ed. Babies with Down
    syndrome a new parents' guide. 2d ed. Bethesda,
    Md. Woodbine House, 1995.
  • World Wide Web
  • America Online
  • --Personal Empowerment Network chatroom (keyword
  • --Better Health and Medical Network, disabilities
    forum, support chats, Down syndrome
  • Down Syndrome newsgroup http//www.downsyndrom (other resources linked to this Web page)  
  • Organizations
  • National Down Syndrome Congress
  • National Down Syndrome Society 1-800-221-4602
  • National Parent to Parent Support and
    Information System 1-800-651-1151
  • La Leche League International (breast-feeding
    information and support) 1-800-525-3243