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Teams | Screening, Assessment, Diagnostics | Diagnostic Criteria | Diagnostic Standards
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
- Radiouinar synostosis Klippel-Feil syndrome
- Flexion contractures Hemivertebrae
- Camptodactyly Scoliosis
- Renal Aplastic, dysplastic, Ureteral duplications
- hypoplastic 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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