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    Fasd: The Differential Diagnosis: Dr. Victoria Mok Siu Medical Genetics Program of Southwestern Ontario

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    Saad Motawéa
    This document discusses the challenges in diagnosing fetal alcohol spectrum disorder (FASD) and provides clues that may suggest an alternative or additional diagnosis. It notes that FASD has no single confirmatory test, facial features change over time, and the same symptoms can be caused by other exposures or conditions. The document lists factors that should prompt consideration of other potential diagnoses, such as pregnancy complications, multiple anomalies, loss of skills, or a family history of developmental delays. It provides examples of disorders like Williams syndrome that can overlap clinically with FASD. A thorough evaluation of medical history, exam findings, and family history is important to identify co-occurring conditions.

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    Fasd: The Differential Diagnosis: Dr. Victoria Mok Siu Medical Genetics Program of Southwestern Ontario

    Uploaded by

    Saad Motawéa
    46 views21 pages
    This document discusses the challenges in diagnosing fetal alcohol spectrum disorder (FASD) and provides clues that may suggest an alternative or additional diagnosis. It notes that FASD has no single confirmatory test, facial features change over time, and the same symptoms can be caused by other exposures or conditions. The document lists factors that should prompt consideration of other potential diagnoses, such as pregnancy complications, multiple anomalies, loss of skills, or a family history of developmental delays. It provides examples of disorders like Williams syndrome that can overlap clinically with FASD. A thorough evaluation of medical history, exam findings, and family history is important to identify co-occurring conditions.

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    Victoria Siu

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    This document discusses the challenges in diagnosing fetal alcohol spectrum disorder (FASD) and provides clues that may suggest an alternative or additional diagnosis. It notes that FASD has no single confirmatory test, facial features change over time, and the same symptoms can be caused by other exposures or conditions. The document lists factors that should prompt consideration of other potential diagnoses, such as pregnancy complications, multiple anomalies, loss of skills, or a family history of developmental delays. It provides examples of disorders like Williams syndrome that can overlap clinically with FASD. A thorough evaluation of medical history, exam findings, and family history is important to identify co-occurring conditions.

    Copyright:

    Attribution Non-Commercial (BY-NC)
    Download as PPT, PDF, TXT or read online from Scribd
    Download as ppt, pdf, or txt
    46 views21 pages

    Fasd: The Differential Diagnosis: Dr. Victoria Mok Siu Medical Genetics Program of Southwestern Ontario

    Uploaded by

    Saad Motawéa
    This document discusses the challenges in diagnosing fetal alcohol spectrum disorder (FASD) and provides clues that may suggest an alternative or additional diagnosis. It notes that FASD has no single confirmatory test, facial features change over time, and the same symptoms can be caused by other exposures or conditions. The document lists factors that should prompt consideration of other potential diagnoses, such as pregnancy complications, multiple anomalies, loss of skills, or a family history of developmental delays. It provides examples of disorders like Williams syndrome that can overlap clinically with FASD. A thorough evaluation of medical history, exam findings, and family history is important to identify co-occurring conditions.

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    FASD: The Differential Diagnosis

    Dr. Victoria Mok Siu Medical Genetics Program of Southwestern Ontario

    Objectives:
    Recognize factors which may result in some of the symptoms of FASD Identify clues that suggest an alternative diagnosis Recognize syndromes which may overlap with FASD

    Pitfalls in Making the Diagnosis of FASD:


    No single confirmatory test. History of exposure may be unavailable or uncertain. 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.

    Pitfalls in Making the Diagnosis of FASD:


    Facial features change with time, may become less evident while learning and behavior problems may become more obvious. Must not overlook the possibility of another concurrent diagnosis.

    Does this child have FASD?


    Adopted or in foster care No information about prenatal exposure No information about infancy and early childhood Minimal family history Behavior and learning problems

    Clues that there may be a different or additional diagnosis


    Pregnancy complications Specific rather than global delay Loss of previously acquired skills Unusual odours/food preferences Multiple congenital anomalies Family history of delayed development Social issues

    Pregnancy history
    Other exposures (anticonvulsants) Flu-like illness (toxoplasmosis, CMV) Maternal diabetes/hypertension Prematurity

    Global vs specific delay


    Delayed speech check hearing Delayed fine motor skills check vision

    Loss of previously acquired skills

    Neurodegenerative disorders Autism/PDD Rett syndrome

    Unusual odours/food preferences


    Think metabolic

    Too many problems look for more than FASD

    Importance of family history

    I didnt want to have to mention it, but theres the matter of genes

    Family history
    Ask about delayed speech, grades repeated, math and reading difficulties Who does this child resemble? (anyone with microcephaly, short stature, behavior issues, mental health problems) Educational level attained by parents History of stillbirths, multiple pregnancy losses (chromosomal abnormality?) Consanguinity

    Social/environmental issues
    Deprivation or neglect? (when was child taken into care?) bonding, empathy Was there any abuse physical/sexual? - head injury? shaken baby? Does the child feel safe now? How many changes of home/school/foster family? continuity of learning

    The constellation of features is important

    Williams syndrome
    Microcephaly Epicanthal folds Short palpebral fissures Long philtrum

    FASD
    Yes Yes Yes Yes, smooth

    Stellate iris Thick lips Supraventricular aortic stenosis Cocktail party chatter

    No Thin lips Normal heart Delayed speech

    22q microdeletion
    Short palpebral fissures Microcephaly Congenital heart defect Cleft palate Hypocalcemia Immunodeficiency

    FASD
    Yes Yes Usually normal Rare No No

    de Lange syndrome
    Microcephaly Long philtrum Thin lips Depressed nasal bridge Anteverted nares

    FASD
    Yes Yes Yes Yes

    Yes

    Synophrys Short limbs/fingers

    No No

    Investigations
    Hearing and vision testing Other investigations only if suspicious for alternative diagnosis

    It is a capital mistake to theorize before you have all the evidence. It biases the judgment.
    - A Study in Scarlet (Sir Arthur Conan Doyle)

    Two disorders can co-exist!

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