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A. Fainsod et al.
development differently from other anesthetics, resulting in more specific and reproducible damage to the developing nervous system. The more common lesions he
observed included eye defects, like microphthalmia (small eyes) and anophthalmia,
and several instances of spina bifida and microcephaly (small head circumference),
corroborating Féré’s observations.
More than half a century later, the French pediatrician Lemoine and co-workers
analyzed 127 cases of offspring to alcoholic parents (Lemoine et al. 1968, 2003).
They were the first to establish a clear connection between prenatal alcohol exposure (PAE) and a complex set of physical malformations, cognitive dysfunction, and
behavioral alterations. Sadly, these findings generated little attention from the medical community, as they were published in an obscure medical journal. Not until Jones
and Smith further described the harmful effects of alcohol on fetal development in
a very prestigious journal did the medical community take notice (Jones et al. 1973;
Jones and Smith 1973). Jones and Smith coined the term Fetal Alcohol Syndrome
(FAS) to describe the facial, growth and cognitive deficits in children exposed to
ethanol prenatally (Jones and Smith 1973).
Early in the 21st century, FASD was categorized as a spectrum disorder that
includes FAS, pFAS (partial FAS), ARND (Alcohol Related Neurodevelopmental
Disorder), ARBD (Alcohol Related Birth Defects), and milder forms of alcoholinduced malformations and deficiencies (Koren et al. 2003; Sokol et al. 2003). Even
though definitions for the different clinical FASD categories existed, the actual clinical criteria used to assign a patient to a specific FASD category required a finer scale
of definition (Cook et al. 2016; Hoyme et al. 2016; Chudley 2018). A quantitative
scale based on a 4-digit code was developed to standardize the clinical diagnosis
and assignment of patients to specific FASD categories (Astley and Clarren 2000).
In recent years, further changes to the diagnostic guidelines have been suggested
(Cook et al. 2016; Hoyme et al. 2016; Chudley 2018). Currently, clinical designation of FASD requires input from a multidisciplinary, diagnostic team. The historical
four diagnostic categories, i.e. FAS, pFAS, ARND, ARBD, have been redefined as
(1) FASD with sentinel facial features—individuals with specific craniofacial malformations and evidence of impairment in 3 or more identified neurodevelopmental
domains, with confirmed or unknown alcohol exposure or (2) FASD without sentinel
facial features—individuals without sentinel features with evidence of impairment
in 3 or more identified neurodevelopmental domains and confirmed alcohol exposure
during pregnancy (Cook et al. 2016).
Development of the Field
Description of the Fetal Alcohol Spectrum Disorder
Alcohol exposure has adverse effects on pregnancy increasing the incidence of spontaneous abortions, stillbirth and preterm delivery (Kesmodel et al. 2002a, b; Bailey
A. Fainsod et al.
development differently from other anesthetics, resulting in more specific and reproducible damage to the developing nervous system. The more common lesions he
observed included eye defects, like microphthalmia (small eyes) and anophthalmia,
and several instances of spina bifida and microcephaly (small head circumference),
corroborating Féré’s observations.
More than half a century later, the French pediatrician Lemoine and co-workers
analyzed 127 cases of offspring to alcoholic parents (Lemoine et al. 1968, 2003).
They were the first to establish a clear connection between prenatal alcohol exposure (PAE) and a complex set of physical malformations, cognitive dysfunction, and
behavioral alterations. Sadly, these findings generated little attention from the medical community, as they were published in an obscure medical journal. Not until Jones
and Smith further described the harmful effects of alcohol on fetal development in
a very prestigious journal did the medical community take notice (Jones et al. 1973;
Jones and Smith 1973). Jones and Smith coined the term Fetal Alcohol Syndrome
(FAS) to describe the facial, growth and cognitive deficits in children exposed to
ethanol prenatally (Jones and Smith 1973).
Early in the 21st century, FASD was categorized as a spectrum disorder that
includes FAS, pFAS (partial FAS), ARND (Alcohol Related Neurodevelopmental
Disorder), ARBD (Alcohol Related Birth Defects), and milder forms of alcoholinduced malformations and deficiencies (Koren et al. 2003; Sokol et al. 2003). Even
though definitions for the different clinical FASD categories existed, the actual clinical criteria used to assign a patient to a specific FASD category required a finer scale
of definition (Cook et al. 2016; Hoyme et al. 2016; Chudley 2018). A quantitative
scale based on a 4-digit code was developed to standardize the clinical diagnosis
and assignment of patients to specific FASD categories (Astley and Clarren 2000).
In recent years, further changes to the diagnostic guidelines have been suggested
(Cook et al. 2016; Hoyme et al. 2016; Chudley 2018). Currently, clinical designation of FASD requires input from a multidisciplinary, diagnostic team. The historical
four diagnostic categories, i.e. FAS, pFAS, ARND, ARBD, have been redefined as
(1) FASD with sentinel facial features—individuals with specific craniofacial malformations and evidence of impairment in 3 or more identified neurodevelopmental
domains, with confirmed or unknown alcohol exposure or (2) FASD without sentinel
facial features—individuals without sentinel features with evidence of impairment
in 3 or more identified neurodevelopmental domains and confirmed alcohol exposure
during pregnancy (Cook et al. 2016).
Development of the Field
Description of the Fetal Alcohol Spectrum Disorder
Alcohol exposure has adverse effects on pregnancy increasing the incidence of spontaneous abortions, stillbirth and preterm delivery (Kesmodel et al. 2002a, b; Bailey