Updated: 12/24/2021

Down Syndrome

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  • 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
  • EPIDEMIOLOGY
    • Risk factors include advanced maternal age
      • 1:1500 in women under 20
      • 1:25 in women over 45
  • ETIOLOGY
    • 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
  • IMAGING
    • Echocardiogram
      • to assess for structural heart defects
  • STUDIES
    • 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
    • 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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(M2.PD.16.4689) A 5-year-old child is brought to his primary care physician for a well-child examination. The child was born when his mother was 43 years old. On physical exam, the child is of small stature, has palpebral fissures that are upward slanting, and inner epicanthal folds. Before proceeding to funduscopic examination, you notice the following in his iris (Figure A). Which of the following is/was most likely present in this child?

QID: 107568
FIGURES:

Decreased risk of developing acute lymphocytic leukemia

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(0/21)

Much later onset of Alzheimer disease

0%

(0/21)

Cardiac murmur

95%

(20/21)

Passed meconium after 48 hours

5%

(1/21)

Hypertonic as an infant

0%

(0/21)

M 6 E

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