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Diagnostic Criteria

Fetal Alcohol Syndrome

1. FASD with confirmed maternal alcohol exposures

A . Confirmed maternal alcohol exposures

B . Evidence of a characteristic pattern of facial anomalies that includes features such as short palpebral fissures and abnormalities in the premaxillary zone (e.g., flat upper lip, flattened philtrum, and flat midface)

C . Evidence of growth retardation, as in at least one of the following:

- low birth weight for gestational age

- decelerating weight over time not due to nutrition

- disproportional low weight to height

D . Evidence of CNS neurodevelopmental abnormalities, as in at least one of the following:

- decreased cranial size at birth

- structural brain abnormalities (e.g., microcephaly, partial or complete agenesis of the corpus callosum, cerebellar hypoplasia)

- neurological hard or soft signs (as age appropriate), such as impaired fine motor skills, neurosensory hearing loss, poor tandem gait, poor eye-hand coordination

2. FASD without confirmed maternal alcohol exposure

B , C , and D as above

3. Partial FASD with confirmed maternal alcohol exposure

A . Confirmed maternal alcohol exposure'

B . Evidence of some components of the pattern of characteristic facial anomalies

- Either C or D or E

C . Evidence of growth retardation, as in at least one of the following:

- low birth weight for gestational age

- decelerating weight over time not due to nutrition

- disproportional low weight to height

D . Evidence of CNS neurodevelopmental abnormalities, as in:

- decreased cranial size at birth

- structural brain abnormalities (e.g., microcephaly, partial or complete agenesis of the corpus callosum, cerebellar hypoplasia)

- neurological hard or soft signs (as age appropriate) such as impaired fine motor skills, neurosensory hearing loss, poor tandem gait, poor eye-hand coordination


E . Evidence of a complex pattern of behavior or cognitive abnormalities that are inconsistent with developmental level and cannot be explained by familial background or environment alone, such as learning difficulties; deficits in school performance; poor impulse control; problems in social perception; deficits in higher level receptive and expressive language; poor capacity for abstraction or metacognition; specific deficits in mathematical skills; or problems in memory, attention, or judgment

TABLE 1 (continued)


Alcohol-Related Effects

Clinical conditions in which there is a history of maternal alcohol exposure,a,b and where clinical or animal research has linked maternal alcohol ingestion to an observed outcome. There are two categories, which may co-occur. If both diagnoses are present, then both diagnoses should be rendered:

4. Alcohol-related birth defects (ARBD)

List of congenital anomalies, including malformations and dysplasias

- Cardiac Atrial septal defects Aberrant great vessels

- Ventricular septal defects Tetralogy of Fallot

- Skeletal Hypoplastic nails Clinodactyly

- Shortened fifth digits Pectus excavatum and carinatum

-

Rad

iouinar synostosis Klippel-Feil syndrome

- Flexion contractures Hemivertebrae

- C

ampt

odactyly Scoliosis

- Renal Aplastic, dysplastic, Ureteral duplication

s

- hypopl

astic kidneys Hydronephrosis

- Horseshoe kidneys

- Ocular Strabismus Refractive problems 2ndary to small

- Retinal vascular anomalies globes

- Auditory Conductive hearing loss Neurosensory hearing loss

- Other Virtually every malformation has been described in some patient with FASD . The etiologic specificity of most of these anomalies to alcohol teratogenesis remains uncertain.

5. Alcohol-related neurodevelopmental disorder (ARND)

Presence of:

A . Evidence of CNS neurodevelopmental abnormalities, as in any one of the following:

- decreased cranial size at birth

- structural brain abnormalities (e.g., microcephaly, partial or complete agenesis of the corpus callosum, cerebellar hypoplasia)

- neurological hard or soft signs (as age appropriate), such as impaired fine motor skills, neurosensory hearing loss, poor tandem gait, poor eye-hand coordination

and/or:

B . Evidence of a complex pattern of behavior or cognitive abnormalities that are inconsistent with developmental level and cannot be explained by familial background or environment alone, such as learning difficulties; deficits in school performance; poor impulse control; problems in social perception; deficits in higher level receptive and expressive language; poor capacity for abstraction or metacognition; specific deficits in mathematical skills; or problems in memory, attention, or judgment.

Copied with permission from: Institute of Medicine. Fetal Alcohol Syndrome: Diagnosis, Epidemiology, Prevention, and Treatment. Washington, DC: National Academy Press, 1996.

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