Fetal Alcohol Syndrome A lifelong Challenge, 1st Edition

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Preface
Following the German original edition of 2013 and an early second edition of 2015,
De Gruyter has decided to publish an English edition of the textbook “Fetal alcohol
syndrome – A lifelong challenge”.
Discovered in 1973 by David Smith and Kenneth Jones, fetal alcohol syndrome
today constitutes one of the most common causes of congenital brain damage world-
wide. While prevalence rates are still rising, the diagnostic focus today is increasingly
directed at affected adult patients.
This book intends to not only describe fetal alcohol spectrum disorder compre-
hensively from a historical, clinical and scientific perspective but also to provide guid-
ance to patients, foster and adoptive parents and other caregivers in diagnosis and
support. The numerous biographies described shall contribute to a better understand-
ing of what is still known to be the “silent disease”.
I would like to express my deepest gratitude to Dr. Cynthia Morton, Medical Ge-
neticist, Professor of Pathology, Harvard Medical School, Boston for her generous and
untiring effort in helping us to translate this book.
When we finished she wrote to me
“It is a priviledge to live my life now with a profound appreciation of the numerous
selfless families who have devoted themselfes to the care of other human beings, who
through no fault of their own live with disabilities. Despite what Thomas Jefferson
stated in the Declaration of Independence: All men a created equal. . . it is simply not
true; and it is the duty of those of us who are more fortunate with our health to help
those who are less fortunate.”

Berlin, November 2017 H.-L. Spohr

https://doi.org/10.1515/9783110436563-201
Contents
Dedication | V
Preface | VII
List of authors | XIII

Part I: The fetal alcohol syndrome and its diagnosis

1 The syndrome | 3
1.1 First description of FAS | 3
1.2 History of FAS in the United States of America and Canada | 3
1.3 History of FAS in Europe | 4
1.4 Current incidence and prevalence of FAS | 6

2 Diagnosis of fetal alcohol syndrome | 12

2.1 Definition | 12
2.2 Clinical picture of FAS in a historical context | 15
2.3 Development of the diagnostic criteria for FAS | 17
2.4 Why is it so difficult to diagnose FAS? | 23
2.5 Misconceptions about FAS | 24

3 The 4-Digit Diagnostic Code | 27

3.1 Introduction | 27
3.2 Growth deficiency | 28
3.3 Dysmorphic facial features | 30
3.4 Central nervous system abnormalities | 35
3.5 Prenatal alcohol exposure | 36
3.6 Limitation of diagnosing FAS | 40

4 Neuropsychological aspects of fetal alcohol syndrome | 45

4.1 Introduction | 45
4.2 Neuropsychological evaluation | 45
4.3 Cognitive deficits in children and adolescents with FAS | 46
4.4 Cognitive deficits in adults with FAS | 51
4.5 Treatment of cognitive deficits in FAS | 51

5 Diagnostic characteristics across lifespan | 56

5.1 Infancy | 56
5.2 Early childhood (preschool) | 62
5.3 School age | 68
X | Contents

5.4 Late childhood and adolescence | 75

5.5 Adulthood (“FAS adult”) | 80

6 Comorbid disorders and differential diagnosis of FAS | 84

6.1 Sleep disorders | 84
6.2 Congenital malformations | 90
6.3 Differential diagnoses | 98
6.4 Psychiatric disorders | 100
6.5 FAS and attention deficit hyperactivity disorder (ADHD) | 101

Part II: Scientific basis of the fetal alcohol syndrome

7 Epidemiology | 111
7.1 Alcohol consumption in industrialised countries | 111
7.2 Light and moderate drinking in pregnancy | 115

8 Teratogenic effects of alcohol | 121

8.1 Definition of teratology | 121
8.2 Behavioural teratology: evidence from animal studies | 123
8.3 Effects of the timing of prenatal alcohol exposure | 124

9 Effects of prenatal exposure to nicotine or illegal substances | 127

9.1 Nicotine use during pregnancy | 127
9.2 Illegal drugs during pregnancy | 129
9.3 “Crack baby” | 129
9.4 Prenatal cannabis or marijuana exposure | 130
9.5 Methamphetamine exposure (“crystal meth”) | 132
9.6 Effects of polydrug use in pregnancy | 133

10 Biomarker for the detection of maternal alcohol use during

pregnancy | 136
10.1 Direct and indirect biomarkers | 136

11 Neuropathological aspects and pathogenesis of FASD | 138

11.1 Introduction | 138
11.2 First descriptions of neuropathological effects | 139
11.3 Pathogenesis of FASD: evidence from animal studies | 140
11.4 Neuroanatomical changes of dendritic spines | 141
11.5 Alcohol-induced apoptosis | 145
11.6 Brain imaging techniques | 147
11.7 Disturbances in brain metabolism | 148
 Contents | XI

12 Genetic and epigenetic aspects of fetal alcohol syndrome | 153

12.1 Genetics | 153
12.2 Epigenetics | 155

Part III: The fetal alcohol syndrome in adulthood

13 Fetal alcohol syndrome in adults (“FAS adult”) | 163

13.1 Introduction | 163
13.2 Longitudinal studies in the United States, France, Finland and
Germany | 163
13.3 Examination into adulthood | 166

14 Diagnosing Fetal alcohol syndrome in adulthood | 178

14.1 Ethical considerations | 178
14.2 Diagnosing adults with the 4-Digit Diagnostic Code | 179
14.3 Secondary disabilities in adults with FAS | 188
14.4 FASD and the legal system | 190

Part IV: Intervention, prevention, and social law issues

15 Treatment and intervention programs | 197

15.1 General aspects | 197
15.2 Pharmacotherapy | 198
15.3 Psychotherapeutic interventions | 201
15.4 Vitamin A supplements | 202
15.5 Social services | 202
15.6 Assisted living communities and assisted living for single adults | 203

16 Prevention of FAS and FASD | 205

16.1 Introduction | 205
16.2 General prevention programs | 206
16.3 Substance abuse prevention for children | 206
16.4 Prevention programs for adolescents and young adults | 207
16.5 Before conception: women and couples | 208
16.6 Prevention programs targeted to pregnant women | 209
16.7 Risk assessment during pregnancy | 209
16.8 Identification of women at risk of prenatal alcohol exposure | 212
XII | Contents

17 Awareness and support in other European countries: governmental policy

and social law | 216
17.1 Fetal alcohol syndrome in the Netherlands | 216
17.2 Fetal alcohol spectrum disorders in the United Kingdom | 219
17.3 FASD in Germany | 228

Part V: Life stories

Part VI: Appendix

A Residential communities and assisted individual housing for adults with

fetal alcohol spectrum disorders (FASD) and behavioural disorders | 285
A.1 The FASD residential community | 286
A.2 Assisted individual housing – FASD | 286

Index | 291
List of authors
Author
Prof. Dr. med. Hans-Ludwig Spohr
FASD-Zentrum Berlin
in cooperation with
Department of Child and Adolescent Psychiatry,
Psychosomatic Medicine and Psychotherapy
Charité – Universitätsmedizin Berlin
Augustenburger Platz 1, 13353 Berlin
[email protected]

Editorial assistance
Heike Wolter, MD
Department of Child and Adolescent Psychiatry,
Psychosomatic Medicine and Psychotherapy
Sozialpädiatrisches Zentrum
Charité – Universitätsmedizin Berlin
Augustenburger Platz 1, 13553 Berlin
[email protected]

With contributions from

Appendix A
Dipl. Psych. Gela Becker
Evangelical Children’s home Sonnenhof e. V.
Neuendorfer Straße 60, 13585 Berlin
[email protected]

Chapter 16
Dipl. Soz. Päd. Manuela Nagel
Department of Obstetrics
Charité – Universitätsmedizin Berlin
Augustenburger Platz 1, 13353 Berlin
[email protected]
XIV | List of authors

Dr. med. Jan-Peter Siedentopf

Department of Obstetrics
Charité – Universitätsmedizin Berlin
Augustenburger Platz 1, 13353 Berlin
[email protected]

Chapter 4
Betteke Maria van Noort, MSc
Department of Child and Adolescent Psychiatry,
Psychosomatic Medicine and Psychotherapy
Charité – Universitätsmedizin Berlin
Augustenburger Platz 1, 13353 Berlin
[email protected]

Chapter 17
Martha Krijgsheld
Chair of the FAS Foundation of the Netherlands
Postbus 13
9980 AA Uithuizen

Susan Fleisher
Founder and former executive director of
National Organisation for Foetal Alcohol Syndrome-UK (NOFAS-UK)
[email protected]

Sandra Ionno Butcher

Chief Executive of NOFAS-UK
022 Southbank House
Black Prince Road, Lambeth
London SE1 7SJ
[email protected]
|
Part I: The fetal alcohol syndrome and its diagnosis
1 The syndrome
1.1 First 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 moth-
ers” [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 “Recogni-
tion 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 rad-
ically 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 neur-
ologically 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 moth-
ers 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 psycho-
mental 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].

1.2 History 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.

https://doi.org/10.1515/9783110436563-001
4 | 1 The syndrome

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 dur-
ing pregnancy. As a consequence of this warning, not only alcohol-dependent wo-
men 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 ter-
rified.
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 af-
fected 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 ex-
istence 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 es-
tablished 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 success-
fully 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 feed-
ing pregnant mice with alcohol the fetal mice showed characteristic craniofacial dys-
morphic signs compared to controls, with significant similarities to craniofacial fea-
tures of children suffering from FAS (Fig. 1.1).
Furthermore, animal studies in rats showed long-term behavioural effects in off-
spring after intrauterine alcohol exposure [10, 11].

1.3 History of FAS in Europe and Germany

In 1968, Lemoine et al. [4] presented a detailed description of impairment in 127 chil-
dren after prenatal alcohol exposure. Other European publications examining FAS fol-
lowed from Sweden, Finland, England and Germany.
 1.3 History of FAS in Europe | 5

narrow forehead
short palpebral
fissures
small nose
small midface
deficient philtrum

long upper lip

Fig. 1.1: K. Sullik et al., craniofacial dysmorphia shown in animal experiments. A) Human FAS pa-
tient, 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 “al-
cohol 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 al-
cohol exposure and intrauterine damage relating to disruption of neonatal develop-
ment 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 al-
coholic mothers were able to stop drinking alcohol during pregnancy and underwent
a therapeutic intervention, had a more positive developmental outcome. This positive
developmental effect continued even when the intervention was implemented in late
pregnancy [19].
In 1996, Strömland, an ophthalmologist from Stockholm, and her colleagues de-
scribed the tortuositas of retinal vessels as a characteristic ocular defect seen in chil-
dren prenatally exposed to alcohol [20]. After a first case report in Finland, in 1979,
Autti–Rämö published a prospective 3-year follow-up study of 24 children with FAS in
1993 [21].
In 1992, the European Union (EU) initiated the large multi-centre study “European
Maternal Alcohol Consumption Study” (EUROMAC-Study) in six European countries
(Denmark, the Netherlands, Spain, Portugal, Great Britain and Germany).
In each study centre, 1000 healthy pregnant women were examined prospectively,
regarding their history of alcohol consumption during pregnancy. The time of explor-
6 | 1 The syndrome

ation was during pregnancy or at the latest shortly after delivery, and all newborns
were examined extensively at birth.
The amount of alcohol consumed by the mothers during pregnancy was divided
into different groups, starting at 0 g of absolute alcohol per week and going up to 150 g
per week in intervals of 30 g.
In summary, it was found that a consumption of 120 g of absolute alcohol per week
or more, i.e. one glass of wine per day, caused a small but significant adverse effect on
growth in the newborns examined [22].
In addition, in three centres (Dundee, UK; Arhus, Denmark; Berlin, Germany) al-
though several hundred children were examined neurologically to determine the stage
of teratogenicity, no significant delay in the infant’s development was detected.
Since 1977, numerous children had been examined and diagnosed as having FAS
by Spohr and Steinhausen in Berlin. With the support of the German Research Found-
ation (Deutsche Forschungsgemeinschaft, DFG) they were able to examine 60 children
prospectively.
After a 4-year follow-up, published in 1987 [23], a 10-year follow-up study was pub-
lished in The Lancet in 1993 [24]. Results from these patients at adolescence, were
presented in 1994 [25].
After patients reached adulthood a cohort of 37 of them was re-examined and per-
manent damage due to prenatal alcohol exposure was demonstrated [26].
In 1993, Steinhausen and colleagues described the long-term consequencesof FAS.
They were able to show that psychopathological abnormalities and cognitive impair-
ments persisted into adolescence and did not diminish over time [28]. In 1996, the
book Alcohol, pregnancy, and the developing child was edited by Spohr und Stein-
hausen [29].
In summary, fetal alcohol syndrome (FAS) was first introduced as a teratogenic
syndrome only existing in childhood with an incidence of 1–2/1000 newborns.
However, today we know that this classification was just the “tip of the iceberg”.
It took several years to understand the full magnitude of this syndrome. In the mean-
time, FAS has changed from a purely dysmorphic syndrome to a highly complex neur-
ological and psychiatric disease in affected patients, who are likely to suffer lifetime
consequences of intrauterine alcohol exposure.

1.4 Current incidence and prevalence of FAS

Incidence is the rate of new cases or newly diagnosed cases of a disease per population
in a given time period, usually based on 1000 live births per year.
In the first comprehensive study, Abel and Sokol examined the incidence of FAS
in 1987. They found 18 studies published in the USA and Europe. A total of 163 cases of
FAS was identified based on 88 236 births, corresponding to an incidence of 1.9/1000
live births [30]. The authors indicated that the incidence rate varied significantly de-