Diagnosis of Fetal Alcohol Spectrum Disorder

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Diagnosis of Fetal Alcohol Spectrum Disorder

• Gideon Koren MD, FRCPC
• Director, Motherisk Program, U of Toronto
• Ivey Chair in Mol. Toxicology, U of Western
  Ontario

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Epidemilogy(1)

• Half to 60 of women in North America drink.
• CDC(anonymous phone interviews)0.14 of pregnant
  women drink above 12drinks/wk
• Abel(1998) based on 29 prospective studies FAS
  incidence of 0.97 per 1000 births
• Rate of 190 per 1000 in some First Nations
  studies.
• B.c and Northern Manitoba 3.3-7.2 per 1000
• Sampson et al Incidence of the whole FASD 9.1
  per 1000

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Epidemiology (2)

• Out of heavy drinkers 40 have at least some
  fetal effects
• Only around 4 have the full blown syndrome
• A mother giving birth to FAS child-much higher
  risk than population risk
• Risk increases with maternal age.

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History of FAS

• Biblic time Infertile mom of prophet Samuel
  warned not to drink after conceiving
• UK late 19th century inmatesdrunken-poor
  pregnancy outcome
• Lemoine (France)1967127 cases
• JonesSmith(1973) coined the term FAS

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Diagnostic Criteria for FAS

• Evidence of maternal drinking.
• Intrauterine/postnatal growth retardation
• Characteristic facial changes
• Complex/pervasive pattern of neurobehavioral
  deficits
• Other-less common, associated birth defects.

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Diagnostic Criteria Institute of Medicine

• FAS with confirmed maternal drinking
• FAS without confirmed maternal drinking
• Partial FAS with confirmed maternal drinking
• Alcohol related birth defects (without confirmed
  maternal drinking)
• Alcohol related neurodevelopmental disorder (ARND)

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Confirming Maternal Drinking (1)

• History self reportby others close to mom.
• 1 beer 1 glass wine 1oz liquor
• Screening questionnaires
• TWEAK
• 1)Tolerancehow many drinks to get high?
• 2)Worry close friends worry about you?
• 3)Eye Opener drinking when first get up?
• 4)Amnesia people telling you things you did not
  remember?
• 5)Cut Down? Feel a need to decrease alcohol?

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Confirming Maternal Drinking (2)

• Maternal biomarkers
• Alcohol in blood/breath test
• Liver enzymes
• Hair measures of FAEEs (Fatty Acid Ethyl Esters)
• Neonatal Biomarkers
• Measuring FAEEs in babys meconium

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Confirming Maternal Drinking (3)

• Meconium FAEE
• First fecal excretion of the child(days 1-3)
• Meconium forming at 14wk pregnancy
• Some baseline level even w/o drinking
• FAEEs above 2nM/mg in babies exposed to problem
  maternal drinking
• Rare-social drinking-not higher than baseline
  FAEEs

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Maternal Alcohol History in Pregnancy

• Which of the following is documented as part of
  the diagnostic workup? Please tick all relevant
• Prenatal alcohol exposure confirmed by the mother
  or other reliable source such as medical records
  for index pregnancy _______________
• Number and types of alcoholic beverages
  consumed, pattern of drinking and frequency of
  drinking during index pregnancy ________________
• Co-occurring disorders, significant psychosocial
  stressors and pre-natal exposure to other
  substances in index and previous pregnancies
  ________________
• Comments ________________________________________
  ____________________
• __________________________________________________
  ____________________
• __________________________________________________
  ____________________
• __________________________________________________
  ____________________
• __________________________________________________
  ____________________

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Intrauterine-Postnatal Growth

• Use standard growth curvesHeight, Weight, Head
  Circumference.
• Decelerating weight over time not due to
  nutrition or other known pathology
• Disproportional low weight to height
• Always consider parental weight, height, head
  circumference

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Facial Measures

• Qualitative changes
• Midface hypoplasia
• Short palpebral fissures (less than 2 SD for age)
• Long flattened filtrum
• Narrow upper lip

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PHYSICAL EXAMINATION AND DIFFERENTIAL DIAGNOSIS

• Which of the following domains are assessed ?
  Please tick all relevant
• Growth Assess for pre or post-natal growth
  deficiency, below 10th percentile ___
• Facial Features Facial Features Measured ___
  Software used ___
• Short palpebral fissures, at or below the
  3rd-percentile (2 standard deviations below the
  norm) ___
• Smooth or flattened philtrum, 4-5 on the 5-point
  Likert scale of lip-philtrum guide ____
• Thin vermilion border of the upper lip, 4-5 on
  5-point Likert scale/lip philtrum guide __
• Assess and record associated physical features
  and abnormalities ___
• Other genetic screening ____
• Comments if necessary ____________________________
  ________________________
• __________________________________________________
  ______________________

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Evidence of Central Nervous System impairment(1)

• Decreased head circumference at birth
• Hard/soft age-appropriate neurological signs(e.g
  fine motor skills)
• Learning difficulties(e.g math)
• Language deficits
• Poor impulse control
• Hyperactivity, poor attention(ADHD)

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Evidence of CNS impairment (2)

• Problem in social perception
• No friends (Stade, 2003)
• Poor capacity for abstract thinking
• Rule breaking-problems with the law
• Presently-no pathognomonic behavioral Phenotype
  of FASD

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Evidence of CNS Impairment (3)

• Canadian Pediatric Society(2002)
• Lack of organization sequencing, inability to
  make choices
• Inability to foresee consequencesinability to
  learn from experience
• Impulsivity
• Inappropriate behavior Excessive friendliness,
  lack of inhibitionunresponsive to social
  cuesinability to make/keep friends
• Difficulty with adaptive living skills

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Evidence of CNS Impairment (4)

• Motherisk 2004
• Comparison of FASD to ADHD (Connors and Achenbach
  questionnaires)
• Externalizing behavior
• Rule braking
• Cruelty
• Steals
• No guilt

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Alcohol Related Birth Defects

• Other birth defects associated with FASD
• CardiacASD, VSD, TOF
• Skeletal Pectus excavatum, scoliosis,
• Renal Aplastic/dysplastic/horseshoe kidneys
• Ocular strabismus, refractive problems
• Hearing conductive/neurosensory H.loss

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NEUROBEHAVIORAL ASSESSMENT

• Which of the following domains are assessed? If
  assessed routinely mark R, if assessed based on
  known or suspected problem mark P. If test is
  never performed mark ND
• Hard and soft neurological signs (including
  sensory- motor signs) ______
• Brain structure (occipitofrontal circumference,
  MRI etc) ______
• Cognition (IQ) _____
• Communication receptive and expressive ______
• Academic achievement ______
• Memory _____
• Executive functioning and abstract reasoning
  _____
• Attention deficit/hyperactivity _______

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Neurobehavioural assessment contdPlease specify
professional who assesses each domain. Mark TM
after their prof. designation if they are a
member of the clinic team (i.e. funded though
clinic).
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Diagnostic Criteria for FAS

• The following are the Canadian criteria for
  diagnosis of FAS after excluding other diagnoses.
  Please tick all criteria that you routinely
  assess as part of your current diagnostic
  protocol.

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Diagnostic Criteria for Partial- FAS

• The following are the Canadian criteria for
  diagnosis of P-FAS after excluding other
  diagnoses. Please tick all criteria that you
  routinely assess as part of your current
  diagnostic protocol.

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Diagnostic Criteria for ARND

• The following are the Canadian criteria for
  diagnosis of Alcohol- Related Neurodevelopmental
  Disorder (ARND) after excluding other diagnoses.
  Please tick all criteria that you routinely
  assess as part of your current diagnostic
  protocol.

Note The term alcohol-related birth defects
(ARBD) should not be used as an umbrella or
diagnostic term, for the spectrum of alcohol
effects (as per Canadian Guidelines).
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Secondary Disabilities

• Sreissguth Appear later in life
• Believed to be the result of complications of
  undiagnosed or untreated primary disabilities
• Mental health problems(90)
• Dependent living(80)
• Employment problems(80)
• Disruptive school experience(60)
• Trouble with law(60)
• Confinement(50)
• Inappropriate sexual behavior(50)
• Alcohol/drug problems(30)

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The cost of FASD in Canada

• Motherisk Study (Stade 2003)
• 140 Canadian families coast to coast
• Rural, urban, suburban, all races, adopted,
  fostered and natural mothers
• Interviewed on all aspect of health and other
  costs
• Estimated cost840,000(Cdn) per case to age 65yr

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FASD-Major Challenges

• No treatment/insufficient programs for problem
  drinking women
• Lack of diagnostic facilities
• Physicians do not know how to diagnose
• No school programs/solutions for diagnosed
  children
• No preparation/program in the correction systems
• No facilities/plans for adults with FASD
• No investment for FASD by Canadian governments