Jacquelyn Bertrand, PhD

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Jacquelyn Bertrand, PhD FAS Prevention Team
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Fetal Alcohol Syndrome Screening and Diagnostic
Guide

• As part of the fiscal year 2002 appropriations
  funding legislation, the U.S. Congress mandated
  that the Centers for Disease Control and
  Prevention (CDC), acting through the National
  Center on Birth Defects and Developmental
  Disabilities (NCBDDD) Fetal Alcohol Syndrome
  (FAS) Prevention Team and in coordination with
  the National Task Force on Fetal Alcohol Syndrome
  and Fetal Alcohol Effect (NTFFAS/FAE), other
  federally funded FAS programs, and appropriate
  non-governmental organizations, would
• Develop guidelines for the diagnosis of FAS and
  other negative birth outcomes resulting from
  prenatal exposure to alcohol,
• Incorporate these guidelines into curricula for
  medical and allied health students and
  practitioners, and seek to have them fully
  recognized by professional organizations and
  accrediting boards, and
• Disseminate curricula to and provide training for
  medical and allied health students and
  practitioners regarding these guidelines.

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FAS Guidelines Process

• Internal CDC Work Group
• Large Scientific Advisory Panel (CDC, NIAAA,
  SAMSHA, HERSA, Scientists, Clinicians, Experts,
  and Parents)
• Scientific Working Group primary working group
• Review by NTFFAS/FAE, Parents, other stakeholders
• Endorsements AAP, ACOG, MOD, NOFAS

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Points Incorporated

• Inclusive criteria rather than exclusive
• Appropriate for individuals without mental
  retardation
• Did not attempt to remove clinical judgments
• Alcohol exposure unknown qualifier, rather than
  criteria
• Guidelines do not go beyond the diagnosis of FAS
  because of lack of appropriate scientific
  information for other diagnostic categories at
  this time
• Ongoing process

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FASD

• In April 2004, several federal agencies along
  with experts in the field were convened a summit
  by NOFAS to develop a consensus definition of
  FASD. The following definition was adopted
• Fetal Alcohol Spectrum Disorders (FASD) is an
  umbrella term describing the range of effects
  that can occur in an individual whose mother
  drank alcohol during pregnancy. These effects
  may include physical, mental, behavioral, and/or
  learning disabilities with possible lifelong
  implications. The term FASD is not intended for
  use as a clinical diagnosis.

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Facial Dysmorphia

• Based on racial norms, person exhibits all three
  of the following facial features
• Smooth philtrum (lip-philtrum guide)
• Thin vermillion (lip-philtrum guide)
• Short palpebral fissures ( 10th percentile)

Note Measured as a 4 or 5 on the University
of Washington lip-philtrum guide. Note It is
very difficult to measure palpebral fissure
length (PFL) accurately.
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Growth

• Confirmed prenatal/postnatal height and/or weight
  10th
• percentile, which has been documented at any one
• point in time.

• Adjusted for
• 1. Age
• 2. Gender
• 3. Gestational age
• 4. Race/Ethnicity

Note Examiner should make sure that the single
point in time when the growth deficit was present
does not correlate with a point in time when the
child was nutritionally deprived.
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Central Nervous System Abnormalities

• I. Structural
• 1. Head circumference (OFC) lt 10th percentile
  adjusted for age and sex.
• 2. Clinically significant brain abnormalities
  observable through imaging.
• II. Neurological
• Neurological problems not due to a
  postnatal insult or fever, or other soft
  neurological signs outside normal limits.

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Central Nervous System Abnormalitiescontinued

• III. Functional
• Performance substantially below that expected
  for an individuals age, schooling, or
  circumstances, as evidenced by
• 1. Global cognitive or intellectual
  deficits representing multiple domains of
  deficit with performance below the 3rdpercentile
  (2 SD below the mean for standardized testing)
  
• or
• 2. Functional deficits below the
  16th percentile (1 SD below the mean for
  standardized testing) in at least three of the
  following domains
• a) cognitive or developmental deficits
  or discrepancies
• b) executive functioning deficits
• c) motor functioning delays
• d) problems with attention or
  hyperactivity
• e) social skills
• f) other, e.g., sensory problems,
  pragmatic language problems,
  memory deficits, etc.

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Criteria for FAS Diagnosis

• FAS diagnosis requires all three of the findings
• listed below
• Documentation of all three facial abnormalities-
  smooth philtrum, thin vermillion, small palpebral
  fissures,
• Documentation of growth deficits,
• Documentation of central nervous
  system/neurobehavioral disorders (structural,
  neurological and/or functional)

Note Confirmed prenatal alcohol use can
strengthen the evidence for diagnosis, but is not
necessary in the presence of all findings listed
above.
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Differential Diagnosis Considerations

• Dymorphia-
• Several genetic syndromes have individual
  features that overlap with FAS. However, none
  (except for the teratogen of Toluene embryopathy)
  have the full constellation of small palpebral
  fissures, thin vermillion border, and smooth
  philtrum.
• There are some syndromes in which the
  constellation of features (primary, occasional
  features, or both) give a gestalt that is
  similar to the gestalt of FAS. These syndromes
  should be considered in particular when
  completing the differential diagnosis.
  Resource Jones, 1997
• Growth-
• Both environmental (eg., neglect, poor nutrition)
  and genetic bases (eg., metabolic disorders) for
  growth retardation should be considered for
  differential diagnosis when considering the FAS
  diagnosis.

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Differential Diagnosis ConsiderationsContinued

• CNS abnormalities-
• In addition to other organic syndromes that
  produce deficits in one or more of the previously
  cited domains (eg., Williams syndrome and Down
  syndrome), significantly disrupted home
  environments or other external factors can
  produce functional deficits in multiple domains
  that overlap with the domains that are affected
  by FAS.
• Differential diagnosis of CNS abnormities
  involves both ruling out other disorders and
  specifying co-occurring disorders (eg., conduct
  disorder, anxiety)
• To assist with differential diagnosis between FAS
  and environmental causes for CNS abnormalities it
  is important to obtain a complete and detailed
  history for the individual and his or her family.

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Referral

• For situations with known prenatal alcohol
  exposure, a child or individual should be
  referred for full FAS evaluation when there is
  confirmed significant prenatal alcohol use (i.e.,
  7 or more drinks per week or 3 or more drinks on
  multiple occasions, or both).
• For situations with unknown prenatal alcohol
  exposure, a child or individual should be
  referred for full FAS evaluation when
• There is any report of concern by a parent or
  caregiver (foster or adoptive parent) that his or
  her child has or might possibly have FAS.
• All three facial features are present (smooth
  philtrum, thin vermillion border, and small
  palpebral fissures).
• One or more facial features are present in
  addition to growth deficits in height or weight
  or both.
• One or more facial features are present, along
  with one or more CNS abnormalities.
• One or more facial features are present, along
  with growth deficits and one or more CNS
  abnormalities.

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Referral continued

• In addition to specific features associated with
  the FAS diagnosis, there are several social and
  family history factors that have been associated
  with prenatal exposures to alcohol, which may
  indicate the need for referral
• Premature maternal death related to alcohol use
  (either disease or trauma)
• Living with an alcoholic parent
• Current or previous abuse or neglect
• Current or previous involvement with Child
  Protective Services
• History of transient caregiving situations
• Having been in foster or adoptive care (including
  kinship care)

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Tip of Iceberg

• FAS
• ----------------------------------------------
• Partial FAS
• ARBD
• ----------------------------------------------
• ARND
• ARND
• ARND
• ARND
• ARND
• ARND