Fetal Alcohol Syndrome

Hans-Ludwig Spohr, Betteke Maria van Noort

• Editorial: De Gruyter
• Año: 2018
• ISBN:
  9783110433876
• Edición: 1
• Categoría: Medicina
• Categoría: Infermieristica

The harmful consequences of alcoholism for the unborn child are still largely unknown. This book presents a detailed description of fetal alcohol syndrome as well as fetal alcohol spectrum disorders with respect to their clinical presentation, diagnosis, epidemiology, and pathogenesis. It also includes detailed considerations of underlying psychopathology, prevention, and therapy as well as the social consequences and impacts to patients.

Part I:The fetal alcohol syndrome and its diagnosis

1The syndrome

1.1First description of FAS

When in 1973 the renowned medical journal the Lancet published an article by Jones and Smith entitled “Pattern of malformation in offspring of chronic alcohol mothers” [1], it was met with much scepticism and head shaking, since chronic alcoholism had always been, and was widely accepted as such by society, a male problem.

Following their first description the authors published a paper called “Recognition of the fetal alcohol syndrome in early infancy” [2]. With the term fetal alcohol syndrome (FAS)they described a new syndrome, which in the following 40 years radically changed our knowledge about “alcohol in utero” and the long lasting cerebral disturbance of children.

Ann Streissguth was a young clinical psychotherapist and psychiatrist back then, who worked in the Dysmorphology Unit of the University of Washington, which was led by David Smith. She examined children with dysmorphic abnormalities both neurologically and psychiatrically, and remembered that she could hardly believe that these children with their similar features were damaged only by the alcohol use of their mothers during pregnancy. However, because they recognised that the singular overlap between these children was, indeed, the chronic alcohol abuse of their mothers during pregnancy, this had to be the reason for their morphological abnormalities and cognitive impairments.

At once Streissguth [3] started an extensive literature search in the medical library of the University of Washington and was surprised when she realised that until 1973 there had been not a single scientific paper suggesting damaging effects from prenatal alcohol exposure.

This is difficult to understand nowadays. Despite all the professional scepticism, only a few years after the first Lancet article, FAS was described as a congenital “birth defect” worldwide. It became one of the most common causes for congenital psychomental developmental disorders with a higher incidence than trisomy 21 or spina bifida.

However, Lemoine et al. had already reported about a large number of children in France damaged by maternal alcoholism during pregnancy in 1968. Unfortunately, this article was published in a regional French medical journal (Quest medicale) and stayed unnoticed until the publication of D. Smith et al. in the Lancet [4].

1.2History of FAS in the United States of America and Canada

In the following years, FAS was described and studied scientifically worldwide. The incidences of the syndrome and the different manifestations, as well as the potential pathomechanism were targets of intensive research.

In 1981, only a few years after discovery of the syndrome the Surgeon General of the United States [5] gave a nationwide warning against alcohol consumption during pregnancy. As a consequence of this warning, not only alcohol-dependent women were alarmed, but also especially women who had drunk occasionally (i.e. a glass of champagne in the very early and often still unknown pregnancy) were terrified.

Due to a lot of uncertainty in the initial years surrounding this new syndrome, which is moreover difficult to diagnose there were probably over-diagnoses of children with FAS.

In 1978, Clarren and Smith [6] published the first major study of 65 children affected by FAS in the New England Journal of Medicine. In this publication, the authors showed the wide range and variability in the clinical presentation of FAS.

The syndrome was commonly not recognised at birth or in the first months of life due to missing specific clinical symptoms, in particular craniofacial dysmorphia. Therefore, especially obstetricians and neonatologists continued to question the existence of FAS [7].

The first eight children described by Jones and Smith in 1973 [1] were infants not older than 5 years of age. Subsequently, the “typical FAS face”, which allows a prima vista diagnosis, was just focused on young children for the first years. It was only much later that the diagnosis was extended from newborns to adolescents and even to adult patients.

Soon after Jones and Smith [1] defined FAS numerous animal studies were established that examined the harmful effects of alcohol exposure during pregnancy especially on the developing brain. These studies were able to show a relationship between alcohol exposure and several types of impairments. These findings successfully counteracted the initial scepticism of doctors regarding the teratogenic effects of alcohol [8].

In 1981 Sulik et al. [9] published a convincing mouse model showing disrupted and altered embryogenesis in mice offspring under laboratory conditions. After feeding pregnant mice with alcohol the fetal mice showed characteristic craniofacial dysmorphic signs compared to controls, with significant similarities to craniofacial features of children suffering from FAS (Fig. 1.1).

Furthermore, animal studies in rats showed long-term behavioural effects in offspring after intrauterine alcohol exposure [10, 11].

1.3History of FAS in Europe and Germany

In 1968, Lemoine et al. [4] presented a detailed description of impairment in 127 children after prenatal alcohol exposure. Other European publications examining FAS followed from Sweden, Finland, England and Germany.

Fig. 1.1: K. Sullik et al., craniofacial dysmorphia shown in animal experiments. A) Human FAS patient, B) 14-day-old mouse fetus exposed to alcohol, C) control mouse fetus [9].

As early as 1976, Bierich and Majewski described the clinical manifestation of FAS in Germany [12]. Majewski, a human geneticist in Düsseldorf, introduced the term “alcohol embryopathy”, which continued to be used for a long time in Germany. In 1981, he described his first speculations regarding the pathogenesis of FAS [13] and in 1993 he was able to report his experience with 200 patients with FAS [14].

In the year 1976, the paediatric cardiologist Hermann Löser and his colleagues described the cardiovascular malformations seen in FAS [15, 16]. In addition, in 1976 the French epidemiologist Kaminski described the relationship between prenatal alcohol exposure and intrauterine damage relating to disruption of neonatal development and, especially, disturbance of growth and maturation [17].

In Sweden, Olegard et al. were the first to publish a case-report about FAS in 1979 [18]. A few years later, in 1987, Larsson et al. demonstrated that children, whose alcoholic mothers were able to stop drinking alcohol during pregnancy and underwent a therapeutic intervention, had a more positive developmental outcome. This positive developmental effect...