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

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slide1

Jacquelyn Bertrand, PhD

FAS Prevention Team

fetal alcohol syndrome screening and diagnostic guide
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.
fas guidelines process
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
points incorporated
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
slide5
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.

facial dysmorphia
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.

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

Growth

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.

central nervous system abnormalities
Central Nervous System Abnormalities

I. Structural

1. Head circumference (OFC) < 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.

central nervous system abnormalities continued
Central Nervous System Abnormalitiescontinued

III. Functional

Performance substantially below that expected for an individual’s 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.

criteria for fas diagnosis
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.

differential diagnosis considerations
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.
differential diagnosis considerations continued
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.

referral
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.
referral continued
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)
tip of iceberg
Tip of Iceberg
  • FAS

----------------------------------------------

  • Partial FAS
  • ARBD

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  • ARND
  • ARND
  • ARND
  • ARND
  • ARND
  • ARND