FASD: The Differential Diagnosis Dr. Victoria Mok Siu Medical Genetics Program of Southwestern Ontario
Objectives: <ul><li>Recognize factors which may result in  some of the symptoms of FASD </li></ul><ul><li>Identify clues t...
Pitfalls in Making the  Diagnosis of FASD: <ul><li>No single confirmatory test. </li></ul><ul><li>History of exposure may ...
Pitfalls in Making the  Diagnosis of FASD: <ul><li>Facial features change with time, may become less evident while learnin...
Does this child have FASD? <ul><li>Adopted or in foster care </li></ul><ul><li>No information about prenatal exposure </li...
Clues that there may be a different or additional diagnosis <ul><li>Pregnancy complications </li></ul><ul><li>Specific rat...
Pregnancy history <ul><li>Other exposures (anticonvulsants) </li></ul><ul><li>Flu-like illness (toxoplasmosis, CMV) </li><...
Global vs specific delay <ul><li>Delayed speech    check hearing </li></ul><ul><li>Delayed fine motor skills    check vi...
Loss of previously acquired skills <ul><li>Neurodegenerative disorders </li></ul><ul><li>Autism/PDD  </li></ul><ul><li>Ret...
Unusual odours/food preferences <ul><li>Think metabolic </li></ul>
Too many problems    look for more than FASD
Importance of family history I didn’t want to have to mention it, but there’s the matter of genes…
Family history <ul><li>Ask about delayed speech, grades repeated, math and reading difficulties </li></ul><ul><li>Who does...
Social/environmental issues <ul><li>Deprivation or neglect? (when was child taken into care?)   bonding, empathy </li></u...
The constellation of features is important
<ul><li>Microcephaly </li></ul><ul><li>Epicanthal folds </li></ul><ul><li>Short palpebral fissures </li></ul><ul><li>Long ...
<ul><li>Short palpebral fissures </li></ul><ul><li>Microcephaly </li></ul><ul><li>Congenital heart defect </li></ul><ul><l...
<ul><li>Microcephaly </li></ul><ul><li>Long philtrum </li></ul><ul><li>Thin lips  </li></ul><ul><li>Depressed nasal bridge...
Investigations <ul><li>Hearing and vision testing </li></ul><ul><li>Other investigations only if suspicious for alternativ...
<ul><li>It is a capital mistake to theorize before you have all the evidence.  It biases the judgment. </li></ul><ul><li>-...
Two disorders can co-exist!
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FASD: The Differential Diagnosis Dr. Victoria Mok Siu

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FASD: The Differential Diagnosis Dr. Victoria Mok Siu

  1. 1. FASD: The Differential Diagnosis Dr. Victoria Mok Siu Medical Genetics Program of Southwestern Ontario
  2. 2. Objectives: <ul><li>Recognize factors which may result in some of the symptoms of FASD </li></ul><ul><li>Identify clues that suggest an alternative diagnosis </li></ul><ul><li>Recognize syndromes which may overlap with FASD </li></ul>
  3. 3. Pitfalls in Making the Diagnosis of FASD: <ul><li>No single confirmatory test. </li></ul><ul><li>History of exposure may be unavailable or uncertain. </li></ul><ul><li>The brain is sensitive to adverse effects of alcohol at all stages of pregnancy while organ damage primarily occurs in the first 8 weeks of embryonic development. </li></ul>
  4. 4. Pitfalls in Making the Diagnosis of FASD: <ul><li>Facial features change with time, may become less evident while learning and behavior problems may become more obvious. </li></ul><ul><li>Must not overlook the possibility of another concurrent diagnosis. </li></ul>
  5. 5. Does this child have FASD? <ul><li>Adopted or in foster care </li></ul><ul><li>No information about prenatal exposure </li></ul><ul><li>No information about infancy and early childhood </li></ul><ul><li>Minimal family history </li></ul><ul><li>Behavior and learning problems </li></ul>
  6. 6. Clues that there may be a different or additional diagnosis <ul><li>Pregnancy complications </li></ul><ul><li>Specific rather than global delay </li></ul><ul><li>Loss of previously acquired skills </li></ul><ul><li>Unusual odours/food preferences </li></ul><ul><li>Multiple congenital anomalies </li></ul><ul><li>Family history of delayed development </li></ul><ul><li>Social issues </li></ul>
  7. 7. Pregnancy history <ul><li>Other exposures (anticonvulsants) </li></ul><ul><li>Flu-like illness (toxoplasmosis, CMV) </li></ul><ul><li>Maternal diabetes/hypertension </li></ul><ul><li>Prematurity </li></ul>
  8. 8. Global vs specific delay <ul><li>Delayed speech  check hearing </li></ul><ul><li>Delayed fine motor skills  check vision </li></ul>
  9. 9. Loss of previously acquired skills <ul><li>Neurodegenerative disorders </li></ul><ul><li>Autism/PDD </li></ul><ul><li>Rett syndrome </li></ul>
  10. 10. Unusual odours/food preferences <ul><li>Think metabolic </li></ul>
  11. 11. Too many problems  look for more than FASD
  12. 12. Importance of family history I didn’t want to have to mention it, but there’s the matter of genes…
  13. 13. Family history <ul><li>Ask about delayed speech, grades repeated, math and reading difficulties </li></ul><ul><li>Who does this child resemble? (anyone with microcephaly, short stature, behavior issues, mental health problems) </li></ul><ul><li>Educational level attained by parents </li></ul><ul><li>History of stillbirths, multiple pregnancy losses (chromosomal abnormality?) </li></ul><ul><li>Consanguinity </li></ul>
  14. 14. Social/environmental issues <ul><li>Deprivation or neglect? (when was child taken into care?)  bonding, empathy </li></ul><ul><li>Was there any abuse – physical/sexual? - head injury? – shaken baby? </li></ul><ul><li>Does the child feel safe now? </li></ul><ul><li>How many changes of home/school/foster family?  continuity of learning </li></ul>
  15. 15. The constellation of features is important
  16. 16. <ul><li>Microcephaly </li></ul><ul><li>Epicanthal folds </li></ul><ul><li>Short palpebral fissures </li></ul><ul><li>Long philtrum </li></ul><ul><li>Stellate iris </li></ul><ul><li>Thick lips </li></ul><ul><li>Supraventricular aortic stenosis </li></ul><ul><li>“ Cocktail party chatter” </li></ul><ul><li>Yes </li></ul><ul><li>Yes </li></ul><ul><li>Yes </li></ul><ul><li>Yes, smooth </li></ul><ul><li>No </li></ul><ul><li>Thin lips </li></ul><ul><li>Normal heart </li></ul><ul><li>Delayed speech </li></ul>Williams syndrome FASD
  17. 17. <ul><li>Short palpebral fissures </li></ul><ul><li>Microcephaly </li></ul><ul><li>Congenital heart defect </li></ul><ul><li>Cleft palate </li></ul><ul><li>Hypocalcemia </li></ul><ul><li>Immunodeficiency </li></ul><ul><li>Yes </li></ul><ul><li>Yes </li></ul><ul><li>Usually normal </li></ul><ul><li>Rare </li></ul><ul><li>No </li></ul><ul><li>No </li></ul>22q microdeletion FASD
  18. 18. <ul><li>Microcephaly </li></ul><ul><li>Long philtrum </li></ul><ul><li>Thin lips </li></ul><ul><li>Depressed nasal bridge </li></ul><ul><li>Anteverted nares </li></ul><ul><li>Synophrys </li></ul><ul><li>Short limbs/fingers </li></ul><ul><li>Yes </li></ul><ul><li>Yes </li></ul><ul><li>Yes </li></ul><ul><li>Yes </li></ul><ul><li>Yes </li></ul><ul><li>No </li></ul><ul><li>No </li></ul>de Lange syndrome FASD
  19. 19. Investigations <ul><li>Hearing and vision testing </li></ul><ul><li>Other investigations only if suspicious for alternative diagnosis </li></ul>
  20. 20. <ul><li>It is a capital mistake to theorize before you have all the evidence. It biases the judgment. </li></ul><ul><li>- “A Study in Scarlet” (Sir Arthur Conan Doyle) </li></ul>
  21. 21. Two disorders can co-exist!

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