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

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

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.

History of FAS Biblic time: Infertile mom of prophet

Samuel warned not to drink after conceiving

UK late 19th century: inmates”drunken”-poor pregnancy outcome

Lemoine (France):1967;127 cases Jones&Smith(1973): coined the term FAS

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.

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)

Confirming Maternal Drinking (1) History: self report;by others close to mom. 1 beer = 1 glass wine = 1oz liquor Screening questionnaires: TWEAK: 1)Tolerance;how 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?

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 baby’s meconium

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

Maternal Alcohol History in PregnancyWhich of the following is documented as part of the diagnostic workup? Please tick all relevant:

1. Prenatal alcohol exposure confirmed by the mother or other reliable source such as medical records for index pregnancy _______________

2. Number and types of alcoholic beverages consumed, pattern of drinking and frequency of drinking during index pregnancy ________________

3. Co-occurring disorders, significant psychosocial stressors and pre-natal exposure to other substances in index and previous pregnancies ________________

4. Comments: ____________________________________________________________

5. ______________________________________________________________________

6. ______________________________________________________________________

7. ______________________________________________________________________

8. ______________________________________________________________________

Intrauterine-Postnatal Growth

Use standard growth curves:Height, 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

Facial Measures Qualitative changes: Midface hypoplasia Short palpebral fissures (less than 2 SD for

age) Long flattened filtrum Narrow upper lip

PHYSICAL EXAMINATION AND DIFFERENTIAL DIAGNOSIS

Which of the following domains are assessed ? Please tick all relevant:

1. Growth: Assess for pre or post-natal growth deficiency, below 10 th percentile ___

2. Facial Features: Facial Features Measured ___ Software used ___

3. Short palpebral fissures, at or below the 3rd-percentile (2 standard deviations below the norm) ___

4. Smooth or flattened philtrum, 4-5 on the 5-point Likert scale of lip-philtrum guide ____

5. Thin vermilion border of the upper lip, 4-5 on 5-point Likert scale/lip –philtrum guide __

6. Assess and record associated physical features and abnormalities ___

7. Other genetic screening ____

8. Comments if necessary ____________________________________________________ 9. ________________________________________________________________________

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)

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

Evidence of CNS Impairment (3) Canadian Pediatric Society(2002): Lack of organization: sequencing, inability to make

choices Inability to foresee consequences;inability to learn

from experience Impulsivity Inappropriate behavior: Excessive friendliness,

lack of inhibition;unresponsive to social cues;inability to make/keep friends

Difficulty with adaptive living skills

Evidence of CNS Impairment (4) Motherisk 2004: Comparison of FASD to ADHD (Connors and

Achenbach questionnaires)

Externalizing behavior Rule braking Cruelty Steals No guilt

Alcohol Related Birth Defects Other birth defects associated with FASD: Cardiac:ASD, VSD, TOF Skeletal: Pectus excavatum, scoliosis, Renal: Aplastic/dysplastic/horseshoe

kidneys Ocular: strabismus, refractive problems Hearing: conductive/neurosensory H.loss

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:

a. Hard and soft neurological signs (including sensory- motor signs) ______

b. Brain structure (occipitofrontal circumference, MRI etc) ______

c. Cognition (IQ) _____

d. Communication: receptive and expressive ______

e. Academic achievement ______

f. Memory _____

g. Executive functioning and abstract reasoning _____

h. Attention deficit/hyperactivity _______

i. Adaptive behaviour, social skills, social communication _____

Please note that an in-depth review of the role of the psychologist is an additional part of this project.

Neurobehavioural assessment cont’dPlease 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).

DOMAIN Professional Test Clinical Observation Only

Hard and soft neurological signs

Brain Structure

Cognition (IQ)

Communication

Academic Achievement

Memory

Executive Functioning

Attention Deficit

Hyperactivity

Adaptive Behaviour

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.

GROWTH : Evidence of prenatal or postnatal growth impairment, in at least 1 of the following >

Birth weight or birth length at or below the 10th percentile for gestational age

________

Height and weight at or below the 10th percentile for age.

_______

Disproportionately low weight-to-height ratio

(= 10th percentile)

_______

FACIAL FEATURES : Simultaneous presentation of all 3 of the following >

Short palpebral fissure length, 2 or more standard deviations below the mean ____

Smooth or flattened philtrum, rank 4 or 5 on the lip-philtrum guide ____

Thin upper lip,rank 4 or 5 on the lip-philtrum guide ____

CNS : Evidence of impairment in 3 or more of the following central nervous system domains >

Hard and soft neurological signs ___

Brain structure ___

Cognition ____

Social communication __

Communication ___

Academic achievement _

Memory ___

Social skills ___

Executive functioning __

Abstract reasoning ___

AD/HA ___

Adaptive behaviour __

ALCOHOL EXPOSURE:Confirmed (or unconfirmed) maternal alcohol exposure

_____________

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.

FACIAL FEATURES:

Simultaneous presentation of 2 of the following facial anomalies at any age >

Short palepebral fissure length (2 or more standard deviations below the mean).

_____

Smooth or flattened philtrum (rank 4 or 5 on the lip-philtrum guide).

_______

Thin upper lip (rank 4 or 5 on the lip-philtrum guide).

_______

CNS:

Evidence of impairment in 3 or more of the following neurological signs >

Hard and soft neurological signs ___

Brain structure ___

Cognition ____

Social communication __

Communication ___

Academic achievement _

Memory ___

Social skills ___

Executive functioning __

Abstract reasoning ___

AD/HA ___

Adaptive behaviour __

ALCOHOL EXPOSURE: Confirmed maternal alcohol exposure >

______

Diagnostic Criteria for ARNDThe 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.

CNS:

Evidence of impairment in 3 or more of the following neurological signs >

Hard and soft neurological signs ___

Brain structure ___

Cognition ____

Social communication __

Communication ___

Academic achievement _

Memory ___

Social skills ___

Executive functioning __

Abstract reasoning ___

AD/HA ___

Adaptive behaviour __

ALCOHOL EXPOSURE:

Confirmed maternal alcohol exposure >

______

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).

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%)

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 cost:$840,000(Cdn) per case to

age 65yr

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