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Updated: Dec 24 2021

Down Syndrome

  • Snapshot
    • A 42-year-old nulliparous woman gives birth to her first child. The baby boy is noted to have a flat facial profile and almond-shaped eyes. On exam, a prominent murmur is heard.
  • Introduction
    • Most common chromosomal disorder and cause of mental retardation
    • Characterized by Trisomy 21 (most often) or chromosomal translocation
    • Risk factors include advanced maternal age
      • 1:1500 in women under 20
      • 1:25 in women over 45
    • Associated with development of multiple comorbidites including
      • acute lymphocytic leukemia (ALL)
      • early-onset Alzheimer's disease
      • atlantoaxial instability (C1-C2)
  • Presentation
    • Symptoms
      • symptoms range widely from person to person and can be mild to severe including
        • mental retardation
        • flat facial profile
        • prominent epicanthal folds
        • simian creases in hands
        • protruding tongue
        • cardiac problems
        • urinary retention
          • reduced muscle tone
          • Psychogenic voiding dysfunction leading to urinary retention presents with difficulty voiding, suprapubic pressure and swelling, and is associated with Down syndrome.
            psychogenic voiding dysfunction 
          • presents with difficulty voiding, suprapubic pressure and swelling
    • Physical exam
      • evidence of mental retardation
      • atlantoaxial instability may be appreciated (C1-C2)
      • hypotonia
      • gap may be noted between the first and second toes
      • Brushfield spots
        • spots between the inner and outer margins of the iris
      • shortened 5th digit
      • small ears
      • signs of other associated diseases including
        • duodenal atresia
        • Hirschprung's disease
        • congenital heart anamolies
          • atrioventricular canal is most common
          • endocardial cushion defects also very common
    • Echocardiogram
      • to assess for structural heart defects
    • Genetic testing
      • can be used to confirm diagnosis and establish specific chromosomal abnormality
        • i.e. Trisomy 21 versus chromosomal translocation
    • EKG
      • to assess for cardiac conduction abnormalities
    • Amniocentesis
      • amniotic fluid sample is obtained with fine needle through the abdomen and uterus
      • performed during 15th week of pregnancy or later
      • less risk to child than chorionic villus sampling
      • usually indicated in mothers > 35 years old
    • Chorionic villus sampling (CVS)
      • placental tissue sample is retrieved via vagina and cervix
      • usually performed between 10th-12th week of pregnancy
      • more risk to child, but can be performed earlier
      • usually indicated in mothers > 35 years of age
  • Differential
    • Child's syndromic appearance should raise awareness of other potential genetic abnormalities, including but certainly not limited to Turner's syndrome, Patau's syndrom, Edward's syndrome, and William's syndrome
    • Diagnosis is based primarily on physical exam and mother's medical history
  • Treatment
    • Prevention
      • no preventive measures are available at this time
      • selective pregnancy termination has been employed following amnio/CVS in older mothers
    • Medical management
      • there is no cure for Down syndrome, therefore all efforts are focused on sequelae
      • frequent screening
        • eye exam every year in infancy
        • hearing tests every 6-12 months
        • dental exams every 6 months
        • cervical spine x-rays around age 3-5 years
        • Pap smears/pelvic exams beginning age 21
        • thyroid testing every 12 months
      • treat associated pathology
        • Hirschsprung's disease
        • duodenal atresia
        • endocardial cushion defects
        • acute lymphocytic leukemia
        • early-onset Alzheimer's
  • Complications
    • Include cardiac septal defects, acute lymphocytic leukemia, and Alzheimer's disease
  • Prognosis
    • Ranges widely depending on severity of manifestation of associated disease
    • Average life-span 30-40 years, but improving with advanced medical care
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