Competency #1 Midwest Regional Fetal Alcohol Syndrome Training Center FASD Foundation Competency #1 Midwest Regional Fetal Alcohol Syndrome Training Center

Competency 1: Foundation This competency addresses knowledge of the historical, biomedical, and clinical background of fetal alcohol syndrome (FAS) and other disorders related to prenatal exposure to alcohol, known collectively as fetal alcohol spectrum disorders (FASDs).

Learning Goals Describe the basic biomedical foundation of FAS. Explain the basic clinical issues related to FASDs. Provide an overview of the epidemiological and psycho-social-cultural aspects of FASDs.

Scope of the Issue Alcohol use is an entrenched practice (institution) in the US More than half of women of childbearing age drink 12% of pregnant women report consuming alcohol Prenatal exposure to alcohol is harmful to the fetus, particularly to their developing brain Historically, women have been less likely to drink alcohol than men; however, that discrepancy is quickly disappearing. More than half of all women of childbearing age (18–44 years of age) report some alcohol use, and one in eight reports binge drinking in the past month. Many of these women are sexually active and often do not take effective measures to prevent pregnancy. These women are at high risk for an alcohol-exposed pregnancy (AEP) as they might continue drinking early in pregnancy at levels that are harmful to the fetus. Although most women reduce alcohol consumption after learning that they are pregnant, in the United States, 10% of pregnant women report consuming any alcohol and 2%–4% report binge drinking. In these findings, binge drinking was defined as consuming five or more drinks on any one occasion. More recently, the definition of binge drinking for women has been changed to four or more drinks on any one occasion. Human and animal studies have clearly demonstrated that prenatal exposure to alcohol is harmful to the fetus, resulting in physical malformations, growth problems, or abnormal functioning of the central nervous system. These negative effects are lifelong and serious. Children born with prenatal alcohol exposure might have a range of problems, from subclinical effects to full fetal alcohol syndrome (FAS), conditions that result in significant morbidity and mortality

Fetal Alcohol Syndrome Through the Ages Alcohol – Arabic ‘al Kuhul’-or monster The oldest and most widely used drug in the world 7000 B.C. used for rituals and customs Greeks – “Moderation” Romans – “Excess”(ive)

Fetal Alcohol Syndrome Through the Ages “Behold, thou shalt conceive and bear a son: and now drink no wine or strong drink.” - Judges 13:7 “Foolish, drunken and harebrained women most often bring forth children like unto themselves, morose and languid.” - Aristotle

Fetal Alcohol Syndrome Through the Ages William Hogarth, 1751 1726 - College of Physicians – Parental drinking “a cause of weak, feeble and distempered children.” 1834 Alcohol Licensure Act – infants born to alcoholic mothers sometimes had a “starved, shriveled, and imperfect look.”

Fetal Alcohol Syndrome Through the Ages 1899 – William Sullivan 120 female “drunkards” in prison compared to sober female relatives Perinatal and infant mortality 2 ½ times greater in offspring of female “drunkards.” General perception was that this was due to germ-cell damage or poor home environment.

Fetal Alcohol Syndrome Recognition 1968 – Paul Lemoine et al. first described effects of prenatal alcohol exposure 1973 –Jones, Smith, Ulleland & Streissguth publish “Pattern of Malformation in Offspring of Chronic Alcoholic Mothers.” (Lancet 1:1267) 1973 – Jones & Smith coin the term FAS (Lancet 2:999) Paul Lemoine of France first described the effects of prenatal alcohol exposure in the medical literature in 1968. This sentinel article was later translated to English. The most important breakthrough in the understanding and documenting of FAS in the United States came through the work of Drs. Jones and Smith and their colleagues (1973). They recognized and described a cohort of children who had similar facial dysmorphology and who had all been exposed to excessive amounts of alcohol in utero. Common to all children was a distinctive constellation of physical abnormalities, growth retardation, central nervous system damage, and prenatal alcohol exposure. Researchers determined that all the children in the study had suffered teratogenic damage due to maternal alcohol consumption during the gestational period. The term fetal alcohol syndrome (FAS) was introduced to describe the resulting condition.

Fetal Alcohol Syndrome Prevention: 1981 Pregnant women should not drink alcohol Pregnant women who have already consumed alcohol should stop Women considering pregnancy should not drink alcohol Surgeon General’s Advisory. In 1981, the U.S. Surgeon General issued a public health advisory warning that alcohol use during pregnancy could cause birth defects. This warning was reissued by the Surgeon General in 2005. The following is an excerpt from the 2005 Advisory: Based on the current, best science available we now know the following: - Alcohol consumed during pregnancy increases the risk of alcohol related birth defects, including growth deficiencies, facial abnormalities, central nervous system impairment, behavioral disorders, and impaired intellectual development. - No amount of alcohol consumption can be considered safe during pregnancy. - Alcohol can damage a fetus at any stage of pregnancy. Damage can occur in the earliest weeks of pregnancy, even before a woman knows that she is pregnant. - The cognitive deficits and behavioral problems resulting from prenatal alcohol exposure are lifelong. - Alcohol-related birth defects are completely preventable. For these reasons: - A pregnant woman should not drink alcohol during pregnancy. - A pregnant woman who has already consumed alcohol during her pregnancy should stop in order to minimize further risk. - A woman who is considering becoming pregnant should abstain from alcohol. - Recognizing that nearly half of all births in the United States are unplanned, women of child-bearing age should consult their physician and take steps to reduce the possibility of prenatal alcohol exposure. - Health professionals should inquire routinely about alcohol consumption by women of childbearing age, inform them of the risks of alcohol consumption during pregnancy, and advise them not to drink alcoholic beverages during pregnancy.

Fetal Alcohol Syndrome Prevention and Recognition 1989 – Alcoholic Beverage Labeling Act, warning pregnant women not to drink 1989 – The Broken Cord by Michael Dorris 1993 – Fantastic Antoine Succeeds by Kleinfeld and Wescott Beyond the medical and research literature, FAS and the dangers of prenatal alcohol exposure were brought to public awareness by the book The Broken Cord. This book describes the author’s experiences with his adopted son, Adam, who had FAS. He explained the negative consequences of prenatal alcohol exposure in a way that could be understood by the general public, rather than by medical professionals with particular specialties.

Fetal Alcohol Syndrome Recognition “Fetal alcohol syndrome (FAS) now is recognized as the leading known cause of mental disability in the United States, surpassing spina bifida and Down’s syndrome.”- JAMA, 1991

Fetal Alcohol Syndrome 1996 Institute of Medicine Report Mandated by U.S. Congress Scientific review of the literature on effects, diagnosis, treatment, and prevention Concluded that FAS, ARBD and ARND are completely preventable and represent a “major public health concern.”

Effects of Alcohol on Fetus Even small amounts of alcohol harmful during pregnancy - Pediatrics August, 2001. Many current obstetric texts suggest and/or state that mild to moderate alcohol use during pregnancy is safe!!! - CNN Fall, 2002. Alcohol use during pregnancy continues to be an important public health concern - MMWR May 22, 2009 Obstetrical textbooks Recommendations about drinking during pregnancy.  American Journal of Preventive Medicine, Volume 23, Issue 2, Pages 136-138 K. Loop

Recent FASD Developments 2002, FAS Regional Training Centers formed 2004, CDC releases their report on FAS diagnostic criteria and recommendation on prevention All children screened for FAS All women of child-bearing age screened for alcohol use 2005, Second Surgeon General’s Advisory on Alcohol Use and Pregnancy In addition to pregnant women, women considering or at risk for pregnancy should abstain from alcohol In 2004 the CDC released those diagnostic criteria recommending that all children be screened for Fetal Alcohol Syndrome, and all women be screened for alcohol use. In 2005, a second Surgeon General’s advisory on alcohol use and pregnancy recommended that besides pregnant women, those trying to get pregnant should abstain from alcohol. 15

Recent FASD Developments 2009, FASD Competency-based Curriculum Development Guide released by the CDC 2009, Reducing Alcohol - Exposed Pregnancies - A Report of the National Task Force on Fetal Alcohol Syndrome and Fetal Alcohol Effect 2009, Advancing Essential Services and Research on Fetal Alcohol Spectrum Disorders - A Report of the National Task Force on Fetal Alcohol Syndrome and Fetal Alcohol Effect 16

Effects of Alcohol on Fetus No known safe amount of alcohol during pregnancy No safe type of alcohol No safe time to drink during pregnancy Alcohol damages the developing central nervous system through multiple mechanisms

Incidence of FAS Down syndrome 1/800 births Cleft lip+/-palate Spina bifida 1/1000 births FAS 1-2/1000 births Leading known cause of mental disability in U.S. Entirely preventable

Prevalence of FASDs Prevalence of FAS ranges from 0.2 to 1.5 per 1,000 live births FASDs estimated at 9-10 per 1,000 live births. Some groups have been found to have higher rates of FAS/FASDs: Disadvantaged groups, some American Indian/Alaska Native groups, and African Americans Children in foster care Youth in juvenile justice system CDC reports FAS prevalence rates from 0.2 to 1.5 cases per 1,000 births across various populations in certain parts of the United States. These rates are comparable to or greater than other common developmental disabilities such as Down syndrome or spina bifida. Of the approximately 4 million infants born each year, an estimated 1,000 to 6,000 will be born with FAS. Some researchers have estimated the rates of the full range of FASDs to be as high as 9 or 10 per 1,000 live births. This translates to about 40,000 alcohol-affected births per year in the United States. Disadvantaged groups, American Indians/Alaska Natives, and other minorities have been documented to have prevalence rates as high as 3 to 5 cases of FAS per 1,000 children. Among children in foster care, the prevalence rate for FAS is 15 cases per 1,000 children. Finally, among individuals in the juvenile justice system, more than 200 per 1,000 20% were found to have FAS or a related disorder.

Prevention of Alcohol-Exposed Pregnancies Universal Warning labels on alcoholic beverages, public service announcements, mass media campaigns Selective Screening women for alcohol use and providing brief intervention Indicated Alcohol treatment and measures to prevent pregnancy Strategies aimed at preventing alcohol-exposed pregnancies include the following: - Universal prevention efforts aim to educate the public about the dangers of alcohol use during pregnancy. Prevention strategies include warning labels on alcoholic beverages, public service announcements, and mass media campaigns. - Selective prevention interventions target individuals or a subgroup of the population who are at increased risk for having an alcohol-exposed pregnancy, meaning all women of childbearing age who drink alcohol. Prevention strategies include screening women for alcohol use and providing brief intervention for women at risk for an alcohol-exposed pregnancy. Alcohol screening instruments include the TWEAK, T-ACE, CAGE, and AUDIT. - Indicated prevention interventions target women at highest risk for giving birth to a child with an FASD, including women who have previously given birth to a child with an FASD or a woman who has a known history of alcohol abuse or dependence. Prevention strategies include alcohol treatment and measures to prevent pregnancy.

FAS Screening and Diagnosis Diagnosis based upon history, physical features (facies), growth deficits, and CNS abnormalities Many terms used to describe the continuum of effects resulting from prenatal alcohol exposure Fetal alcohol effects Alcohol-related birth defects Alcohol-related neurodevelopmental disorder

FAS Screening and Diagnosis More recent term is fetal alcohol spectrum disorders or FASDs Umbrella term describing range of effects Physical Mental Behavioral Learning disabilities Possible life-long implications

FAS Screening and Diagnosis Screening is used to identify triggers – if enough triggers are present, next step is referral to determine diagnosis Major components of FAS diagnostic criteria: Facial dysmorphia Growth problems Central nervous system abnormalities To receive the diagnosis of FAS, an individual must have documentation of all three components of the diagnostic criteria (i.e., dysmorphia, growth deficits, and a CNS abnormality). In addition, the diagnosis should be characterized by the information available about exposure history as either (a) confirmed prenatal alcohol exposure or (b) unknown prenatal alcohol exposure.

FAS Screening and Diagnosis Facial dysmorphia Smooth philtrum Thin vermillion border Small palpebral fissures Growth problems Height and/or weight at or below 10th percentile Central nervous system impairment Corpus callosum, cerebellum, basal ganglia, areas surrounding the inter-hemispheric fissure

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Fetal Alcohol Syndrome Associated Features Limb abnormalities Crease differences Cardiac Small genitalia Ocular Skeletal Auditory

Growth in FAS

Growth in FAS - Males

FAS – Differential Diagnosis Williams syndrome (ELN deletion) Velocardiofacial syndrome (del 22q11) Noonan syndrome (PTPN deletion) DeLange syndrome Dubowitz syndrome Maternal PKU embryopathy Maternal Toluene embryopathy

Spectrum of Clinical Symptoms Mental disability Learning disability ADD, ADHD Poor memory and recall Poor compliance Poor planning and impulsivity Abstraction difficulties

FAS and the Brain IQ at 8 yrs Full scale Verbal scale Performance scale Normal controls Prenatal exposure to alcohol FAS FAS – fetal alcohol syndrome; PEA – prenatal exposure to alcohol; NC – normal control; FSIQ – full scale IQ; VIQ – verbal IQ; PIQ – performance IQ

Costs of FAS Cost estimates only available for FAS to date Estimated lifetime cost for one individual living with FAS in 2002 was $2 million Total annual costs associated with FAS in the United States are estimated at $4 billion The costs of FASDs are beginning to be understood and formally addressed. To date, cost estimates are only available for FAS. Annual costs associated with FAS in the United States are estimated to be approximately $4 billion. In 2002, the estimated lifetime cost for one individual with FAS was $2 million. This is an average for all people with FAS. Those with severe problems, such as profound mental retardation, have much higher costs.

Societal Costs of FASDs $5.4 billion in lifetime health costs $860,000 per child in health costs $200,000 per child in lost potential wages Estimates do not include other services Special education Foster care Incarceration

Collectively, scientific studies clearly indicate that NO alcohol during pregnancy remains the best medical advice!

FAS – The Road Ahead FAS – Only the tip of the iceberg Prompt diagnosis leads to better prognosis Treatment begins with prevention FAS FASDs