1. Fetal Alcohol Spectrum Disorder
Caitlin Carew
PGY-3 Pediatrics
CHEO Telehealth Rounds
March 31, 2017

2. What is FASD?
A diagnostic term that describes a group of effects that result from prenatal exposure to alcohol

3. Prevalence of FASD
2015 Canadian Guidelines estimate that 1/100 people meet diagnostic criteria for FASD
Complex to assess given different diagnostic criteria and need for extensive evaluation to make diagnosis

4. Etiology of FASD Alcohol is teratogenic
Different effects at different gestations
First trimester: facial anomalies, structural anomalies including brain abnormalities
Second trimester: increased risk of spontaneous abortion
Third trimester: effects on weight, length and brain growth
***neurobehavioural effects throughout gestation
Brain abnormalities: reduced brain volume; thinning of corpus callosum, abnormal functioning of amygdala
Epigenetic alterations that disrupt the expression of genes determining normal development

5. No Safe Threshold NO SAFE THRESHOLD has been identified:
fetus has inefficient elimination of alcohol (3-4% of the maternal rate)
alcohol excreted by fetus into amniotic fluid gets swallowed and there can be intramembranous absorption though GI tract (recycling of alcohol)
Particularly risky patterns: binge drinking (4 or more drinks in a single sitting); 6 or more drinks per week for 2 or more weeks

6. Risk Factors for FASD Child Factors Sibling with FASD
Lived/living in foster care
Current or past involvement with child protective services
children born to mothers over 30 who drank were 2-5 times more likely to have FASD than younger mothers

7. Risk Factors for FASD Maternal Factors
Low maternal educational attainment
Higher maternal age (>30)
Poor maternal nutrition in pregnancy
Higher gravidity and parity
History of miscarriages and stillbirths

8. Risk Factors for FASD Maternal Factors Continued
Substance use including tobacco
Mental health disorders
Social isolation in pregnancy
Intimate partner violence
Poverty

9. What is FASD?

12. 2015 Canadian Guidelines
The 2015 Canadian Guidelines on FASD eliminate all the above mentioned subgroups and consolidate FASD into it’s own diagnostic term

13. Diagnostic algorithm proposed by Canadian Guidelines

14. Confirmed no alcohol exposure means no diagnosis of FASD

15. Diagnostic algorithm proposed by Canadian Guidelines

16. Sentinel Facial Features
Palpebral Fissure Length:
measure from encanthion to excanthion (inner to outer eye); have patient look up to make measurement more accurate; plot on appropriate chart - diagnostic is at or below 3rd percentile
CMAJ 2005 Guidelines on Diagnosis FASD

17. Sentinel Facial Features
Lip-philtrum guide: 5 point scale - measures philtrum smoothness and upper lip thinness
marked independently (can be 1 for philtrum and 5 for thinness)
diagnostic: 4 or 5 on Washington Lip-Philtrum Guide

18. Diagnostic algorithm proposed by Canadian Guidelines

19. CNS Impairment
Severe impairment in 3 or more of the following domains:
motor skills
neuroanatomy/neurophysiology
cognition
language
academic achievement

20. CNS Impairment memory attention
executive function, including impulse control and hyperactivity
affect regulation
adaptive behaviour, social skills or social communication

21. CNS Impairment
Severe Impairment: Greater than or equal to 2 standard deviations below the mean
No neurodevelopmental deficits are pathognomonic for FASD
Suffice to say some experts are needed to help make this diagnosis - need a battery of formal neurodevelopmental testing

22. Diagnostic algorithm proposed by Canadian Guidelines

23. Infants who cannot undergo extensive neurodevelopmental testing but who are microcephalic could meet diagnostic criteria; if not microcephalic but have sentinel facial features they are at risk

24. At risk is a new diagnostic group identified in the 2015 guidelines
At risk is a new diagnostic group identified in the 2015 guidelines. Infants with 3 sentinel facial features are recommended to be referred to a geneticist in the guidelines (regardless of whether or not they have microcephaly)
- infants with known prenatal alcohol exposure who are at risk should have neurodevelopment testing completed or repeated at an age appropriate time to rule in or out the diagnosis of FASD

25. Associated Congenital Anomalies
Cardiac: ASD, VSD, conotruncal defects (TOF)
Skeletal: joint flexion contractures, shortened 5th digits, scoliosis, hemivertebrae
Renal: aplastic, dysplastic, hypoplastic kidney, ureteral duplication
Ocular: strabismus, optic nerve hypoplasia
Auditory: conductive or SNHL

26. Management of FASD
An ounce of prevention…

27. Screen All Women Abstainers Low-risk drinkers At-risk drinkers
Problem drinkers
From CPS statement on FASD
All women seen by family docs, midwives, NPs should be asked about their drinking habits, whether pregnant or not - starting the conversation early can lead to change in habits before they cause problems like FASD
Abstainer: consume no alcohol
Low-risk: 1-2 drinks per day 3 or less times per week; do not use while driving or pregnant
At-risk: 7-21 drinks per week, more than 3-4 drinks per occasion, or drink in high risk sitautions
Problem: more than 21 drinks per week, negative consequences associated with drinking

28. T-ACE Tolerance (2 or more drinks to feel effect) Annoyed Cut back
Eye opener
tolerance: how much do you drink to feel effect? =2 points if answer is 2+ drinks
has anyone annoyed you by saying you should cut back on drinking
have you ever thought you should cut down
have you ever had a drink in the morning to get going
Score of 2 or more indicates at-risk drinking behaviour

29. Management of FASD Early diagnosis and intervention is important
Anticipatory guidance for parents
early diagnosis is associated with better outcomes and can prevent FASD in future pregnancies
infants with FASD are hard to manage and are at higher risk for abuse

30. Management of FASD Infancy: irritability, jitteriness
frequent, gentle handling
frequent eye contact and cuddling
avoid bouncing/sudden movements

31. Management of FASD
Young children: hyperactivity, inattention, cognitive impairment, emotional reactivity, learning disabilities, memory deficits, seizures
good structure and routine (transitions are hard)
teach acceptable interpersonal behaviour
maintain sense of self-worth

32. Management of FASD
Older children/adolescents: school disruption, inability to maintain employment, inappropriate sexual behaviour
keep tasks simple (poor short-term memory)
ensure safety (may not identify danger)
focus on developing life skills

33. Comorbidities ADHD Mood dysregulation and major depression Anxiety
Substance use
These comorbidities respond to conventional treatment modalities (e.g. stimulants for ADHD, antidepressants, etc)

34. Referral
Patients will benefit from a multidisciplinary approach - consider referral to developmental pediatrics (OCTC in Ottawa)
Multi-D team consisting of OT, PT, SLP, developmental pediatrician, possibly geneticist
School support (psychoed testing, EAs)

35. Management of FASD
Canadian FASD research network -put out by U Calgary

36. Management of FASD

37. Prognosis High prevalence of adverse outcomes
Inappropriate sexual behaviour
Suspension/expulsion/school drop out
Trouble with law
Confinement (prison, psychiatric, addiction rehab)
Alcohol/drug us
Sexual behaviour: 49%
Suspension/expulsion: 61%
Trouble with law: 60%
Confinement: 50%
Alcohol/drug problems: 35%

38. Prognosis Factors associated with improved prognosis
Diagnosis before age 6
Access to social services and educational supports
Stable living environment
Absence of exposure to abuse

39. Summary New Canadian Guidelines for diagnosis of FASD
There is no safe amount of alcohol to consume in pregnancy
Prevention is key - screen all women of childbearing age for alcohol consumption habits and counsel on reducing intake
Management should be tailored to the individual child, but in general early diagnosis and intervention is associated with better outcomes
(EtOH + sentinel facial features + neurocognitive impairment = FASD)
- at risk group warrants close follow-up

40. Thank You

41. References
Fetal alcohol spectrum disorder: Canadian guidelines for diagnosis.
Chudley AE, Conry J, Cook JL, Loock C, Rosales T, LeBlanc N; Public Health Agency of Canada's National Advisory Committee on Fetal Alcohol Spectrum Disorder. CMAJ Mar 1;172(5 Suppl):S1-S21.
Fetal alcohol spectrum disorder: a guideline for diagnosis across the lifespan.
Cook JL, Green CR, Lilley CM, Anderson SM, Baldwin ME, Chudley AE, Conry JL, LeBlanc N, Loock CA, Lutke J, Mallon BF, McFarlane AA, Temple VK, Rosales T; Canada Fetal Alcohol Spectrum Disorder Research Network. CMAJ Feb 16;188(3):191-7.
Fetal alcohol syndrome. First Nations and Inuit Health Committee, Canadian Pediatric Society. Paediatr Child Health Mar;7(3):