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!