Other FASD conditions are partial expressions of FAS, where the central nervous system shows clinical deficits. In these other FASD conditions, an individual may be at greater risk for adverse outcomes because brain damage is present without associated visual cues of poor growth or the "FAS face" that might ordinarily trigger an FASD evaluation. Such individuals may be misdiagnosed with primary mental health disorders such as ADHD or oppositional defiance disorder without appreciation that brain damage is the underlying cause of these disorders, which requires a different treatment paradigm than typical mental health disorders. While other FASD conditions may not yet be included as an ICD or DSM-IV-TR diagnosis, they nonetheless pose significant impairment in functional behavior because of underlying brain damage. Many indications of fetal alcohol spectrum disorders are developmental. Therefore, although a child may appear 'normal' at birth, intellectual disabilities caused by alcohol before birth may not appear until the child begins school.
Alcohol can also harm the fertility of women who are planning for pregnancy. Adverse effects of alcohol can lead to malnutrition, seizures, vomiting, and dehydration. The mother can suffer from anxiety and depression, which can result in child abuse/neglect. It has also been observed that when the pregnant mother withdraws from alcohol, its effects are visible on the infant as well. The baby remains in an irritated mood, cries frequently, does not sleep properly, weakening of sucking ability and increased hunger.
Fetal alcohol spectrum disorders are caused by alcohol exposure during gestational development. If an individual was not exposed to alcohol before birth, they will not have FASD. However, not all infants exposed to alcohol in utero will have detectable FAS, FASD, or pregnancy complications.
No safe level of fetal alcohol exposure has been established. Because alcohol is a known teratogen, it is considered unethical to do randomized controlled trials on pregnant women to determine the precise toxicity effects of alcohol. Among women who consume any quantity of alcohol during pregnancy, the risk of giving birth to a child with FASD is about 15%, and to a child with FAS about 1.5%. Drinking 2 standard drinks a day, or 6 standard drinks in a short time, carries a 4.3% risk of a FAS birth (i.e. one of every 23 heavy-drinking pregnant women will deliver a child with FAS). Furthermore, alcohol-related congenital abnormalities occur at an incidence of roughly one out of 67 women who drink alcohol during pregnancy. Among those mothers who have an alcohol use disorder, an estimated one-third of their children have FAS. The variance seen in outcomes of alcohol consumption during pregnancy is poorly understood. Aggravating factors may include advanced maternal age, smoking, poor diet, genetics, and social risk factors.
The risk of FASD increases with the amount consumed, the frequency of consumption, and a longer duration of alcohol consumption during pregnancy. Blood alcohol concentration has been identified as a relevant factor. All forms of alcohol, such as beer, wine, and liquor, pose similar risk. Binge drinking increases the chances and severity of FASD to such an extent that Svetlana Popova has stated that "binge drinking is the direct cause of FAS or FASD". Small amounts of alcohol may not cause an abnormal appearance, however, small amounts of alcohol consumption while pregnant may cause behavioral problems and also increases the risk of miscarriage. Quasi-experimental studies provide moderately strong evidence that prenatal alcohol exposure causes detrimental cognitive outcomes, and some evidence of reduced birthweight, although no study was fully rated at low risk of bias and quantity of studies was limited.
The evidence is inconsistent and contradictory regarding the effects of low-to-moderate drinking, for example, less than 12 grams of ethanol per day. Many studies find no significant effect, but some find beneficial associations, and others find detrimental associations, even on the same outcomes. Summarizing studies by country shows some similarity in results, due to using the same data sources. The definition of low alcohol consumption varies significantly among studies and often fails to incorporate all aspects of timing, dose, and duration. Recall bias and socioeconomic and psychosocial factors have been controlled for in most studies, but it is likely that residual confounding due to missing factors and variation in methods still exists and is larger than any observed effects.
Fathers who consume alcohol before conception may contribute to FASD through long-term epigenetic modification of the father's sperm, but this has been challenged; evidence it can cause complete FAS is inconclusive.
Almost all experts recommend that the mother abstain from alcohol use during pregnancy to prevent FASDs. A pregnant woman may not become aware that she has conceived until several weeks into the pregnancy, so it is also recommended to abstain from alcohol while attempting to become pregnant. The recommendations of abstaining from alcohol during pregnancy and while attempting to become have been made by the Surgeon General of the United States, the Centers for Disease Control, the American College of Obstetricians and Gynecologists, the American Academy of Pediatrics, the World Health Organization, the United Kingdom's National Institute for Health and Clinical Excellence, and many others. In the United States, federal legislation has required that warning labels be placed on all alcoholic beverage containers since 1988 under the Alcoholic Beverage Labeling Act.
The most current advocacy perspectives encourage people and systems to approach FASD with interventions and support for individuals already living with FASD. Focusing on prevention often only further stigmatizes individuals with FASD and their birth parents. Advocates say, if a person is supporting people currently living with FASD, then that person is spreading the awareness needed for successful prevention efforts; "Intervention is Prevention". Many social determinants of health impact the effects of PAE:
Women can experience serious symptoms that accompany alcohol withdrawal during pregnancy. According to the World Health Organization, these symptoms can be treated during pregnancy with brief use of benzodiazepine tranquilizers. Currently, the FDA has approved three medications—naltrexone, acamprosate, and disulfiram—for the treatment of alcohol use disorder (AUD). However, there is insufficient data regarding the safety of these medications for pregnant women.
After a pregnant woman consumes alcohol, the alcohol crosses through the placenta and umbilical cord to the developing fetus. Alcohol metabolizes slowly in the fetus and remains for a long time when compared to an adult. A human fetus appears to be at triple risk from maternal alcohol consumption:
Different body systems in the infant grow, mature, and develop at specific times during gestation. The effect of consumption of alcohol differs during each of these developmental stages:
Presently, four FASD diagnostic systems that diagnose FAS and other FASD conditions have been developed in North America:
Each diagnostic system requires an assessment of four key features: growth, facial features, central nervous system, and alcohol exposure. To determine any FASD condition, a multi-disciplinary evaluation is necessary to assess each of the four key features for assessment. Generally, a trained physician will determine growth deficiency and FAS facial features. While a qualified physician may also assess central nervous system structural abnormalities or neurological problems, usually central nervous system damage is determined through psychological, speech-language, and occupational therapy assessments to ascertain clinically significant impairments in three or more of the Ten Brain Domains. Prenatal alcohol exposure risk may be assessed by a qualified physician, psychologist, social worker, or chemical health counselor. These professionals work together as a team to assess and interpret data of each key feature for assessment and develop an integrative, multi-disciplinary report to diagnose FAS (or other FASD conditions) in an individual.
A positive finding on all four features is required for a diagnosis of FAS, and the four diagnostic systems essentially agree on criteria for fetal alcohol syndrome (FAS). However, there are differences among systems when full criteria for FAS are not met. Prenatal alcohol exposure and central nervous system damage are the critical elements of the spectrum of FASD, and a positive finding in these two features is sufficient for an FASD diagnosis in all FASD systems. But different researchers and systems may use a wide variety of terminology to describe an individual's FASD condition, as the nomenclature is still evolving. Most individuals with deficits resulting from prenatal alcohol exposure do not express all features of FAS and fall into other FASD conditions. The Canadian guidelines recommend the assessment and descriptive approach of the "4-Digit Diagnostic Code" for each key feature of FASD and the terminology of the IOM in diagnostic categories, excepting ARBD.
The most severe condition is called Fetal Alcohol Syndrome (FAS), which refers to individuals who have a specific set of birth defects and neurodevelopmental disorders characteristic of the diagnosis. The following criteria must be fully met for an FAS diagnosis:
FAS is the only expression of FASD that has garnered consensus among experts to become an official ICD-9 and ICD-10 diagnosis.
Partial FAS (pFAS) was previously known as atypical FAS in the 1997 edition of the "4-Digit Diagnostic Code". People with pFAS have a confirmed history of prenatal alcohol exposure, but may lack growth deficiency or the complete facial stigmata. Central nervous system damage is present at the same level as FAS. These individuals have the same functional disabilities but "look" less like FAS.
Growth or height may range from normal to deficient.
Alcohol-related neurodevelopmental disorder (ARND) is the specific diagnosis of the non-dysmorphic type of FASD, where a majority of the symptoms are witnessed. The diagnosis was initially suggested by the Institute of Medicine to replace the terms FAE (fetal alcohol effects). It focuses on central nervous system damage, rather than growth deficiency or FAS facial features. The Canadian guidelines also use this diagnosis and the same criteria. While the "4-Digit Diagnostic Code" includes these criteria for three of its diagnostic categories, it refers to this condition as static encephalopathy. The behavioral effects of ARND are not necessarily unique to alcohol however, so use of the term must be within the context of confirmed prenatal alcohol exposure. ARND may be gaining acceptance over the terms FAE and ARBD to describe FASD conditions with central nervous system abnormalities or behavioral or cognitive abnormalities or both due to prenatal alcohol exposure without regard to growth deficiency or FAS facial features.
The following criteria must be fully met for a diagnosis of ARND or static encephalopathy:
Growth or height may range from normal to minimally deficient.
Neurobehavioral disorder associated with prenatal alcohol exposure (ND-PAE) is the spectrum-wide term for the psychiatric, behavioral, and neurological symptoms of all FASDs. It was introduced into the DSM-V as a "condition for further study" and as a specified condition under, "other specified neurodevelopmental disorders" as a way to better study the behavioral aspects of all FASD disorders.
In the initial studies that described FAS, growth deficiency was a requirement for inclusion in the studies; thus, all the original people with FAS had growth deficiency as an artifact of sampling characteristics used to establish criteria for the syndrome. That is, growth deficiency is a key feature of FASD because growth deficiency was a criterion for inclusion in the study that defined FAS. Growth deficiency may be less critical for understanding the disabilities of FASD than the neurobehavioral sequelae to the brain damage. Canadian guidelines updated in 2016 deleted growth as a diagnostic criterion.
Refinements in diagnostic criteria since 1975 have yielded three distinctive and diagnostically significant facial features which distinguish FAS from other disorders with partially overlapping characteristics. The three FAS facial features are:
Ranking FAS facial features is complicated because the three separate facial features can be affected independently by prenatal alcohol. A summary of the criteria follows:
All four diagnostic systems allow for assessment of CNS damage in these areas, but the criteria vary. The IOM system requires structural or neurological impairment for a diagnosis of FAS, but also allows a "complex pattern" of functional anomalies for diagnosing PFAS and ARND. The "4-Digit Diagnostic Code" and CDC guidelines allow for a positive CNS finding in any of the three areas for any FASD diagnosis, but functional anomalies must measure at two standard deviations or worse in three or more functional domains for a diagnosis of FAS, PFAS, and ARND. The "4-Digit Diagnostic Code" also allows for an FASD diagnosis when only two functional domains are measured at two standard deviations or worse. The "4-Digit Diagnostic Code" further elaborates the degree of CNS damage according to four ranks:
Structural abnormalities of the brain are observable, and physical damage to the brain or brain structures caused by prenatal alcohol exposure. Structural impairments may include microcephaly (small head size) of two or more standard deviations below the average, or other abnormalities in brain structure (e.g., agenesis of the corpus callosum, cerebellar hypoplasia).
Microcephaly is determined by comparing head circumference (often called occipitofrontal circumference, or OFC) to appropriate OFC growth charts. Other structural impairments must be observed through medical imaging techniques by a trained physician. Because imaging procedures are expensive and relatively inaccessible to most people, diagnosis of FAS is not frequently made via structural impairments, except for microcephaly.
Evidence of a CNS structural impairment due to prenatal alcohol exposure will result in a diagnosis of FAS, and neurological and functional impairments are highly likely.
During the first trimester of pregnancy, alcohol interferes with the migration and organization of brain cells, which can create structural deformities or deficits within the brain. During the third trimester, damage can be caused to the hippocampus, which plays a role in memory, learning, emotion, and encoding visual and auditory information, all of which can create neurological and functional CNS impairments as well.
In 1977, Clarren described a second infant whose mother was a binge drinker. The infant died ten days after birth. The autopsy showed severe hydrocephalus, abnormal neuronal migration, and a small corpus callosum. FAS has also been linked to brainstem and cerebellar changes, agenesis of the corpus callosum and anterior commissure, neuronal migration errors, absent olfactory bulbs, meningomyelocele, and porencephaly.
All four diagnostic systems show virtual agreement on their criteria for CNS damage at the neurological level, and evidence of a CNS neurological impairment due to prenatal alcohol exposure will result in a diagnosis of FAS or pFAS, and functional impairments are highly likely.
Neurological problems are expressed as either hard signs, or diagnosable disorders, such as epilepsy or other seizure disorders, or soft signs. Soft signs are broader, nonspecific neurological impairments, or symptoms, such as impaired fine motor skills, neurosensory hearing loss, poor gait, clumsiness, and poor eye–hand coordination. Many soft signs have norm-referenced criteria, while others are determined through clinical judgment. "Clinical judgment" is only as good as the clinician, and soft signs should be assessed by either a pediatric neurologist, a pediatric neuropsychologist, or both.
When structural or neurological impairments are not observed, all four diagnostic systems allow CNS damage due to prenatal alcohol exposure to be assessed in terms of functional impairments. Functional impairments are deficits, problems, delays, or abnormalities due to prenatal alcohol exposure (rather than hereditary causes or postnatal insults) in observable and measurable domains related to daily functioning, often referred to as developmental disabilities. There is no consensus on a specific pattern of functional impairments due to prenatal alcohol exposure and only CDC guidelines label developmental delays as such, so criteria (and FASD diagnoses) vary somewhat across diagnostic systems.
The four diagnostic systems list various CNS domains that can qualify for functional impairment, which can determine an FASD diagnosis:
The Fetal Alcohol Diagnostic Program (FADP) uses unpublished Minnesota state criteria of performance at 1.5 or more standard deviations on standardized testing in three or more of the Ten Brain Domains to determine CNS damage. However, the Ten Brain Domains are easily incorporated into any of the four diagnostic systems' CNS damage criteria, as the framework only proposes the domains, rather than the cut-off criteria for FASD.
Prenatal alcohol exposure is determined by interview of the biological mother or other family members knowledgeable of the mother's alcohol use during the pregnancy (if available), prenatal health records (if available), and review of available birth records, court records (if applicable), chemical dependency treatment records (if applicable), chemical biomarkers, or other reliable sources.
Evidence is insufficient for the use of chemical biomarkers to detect prenatal alcohol exposure. Biomarkers being studied include fatty acid ethyl esters (FAEE) detected in the meconium (first feces of an infant) and hair. FAEE may be present if chronic alcohol exposure occurs during the second and third trimesters since this is when the meconium begins to form. Concentrations of FAEE can be influenced by medication use, diet, and individual genetic variations in FAEE metabolism, however.
Other disorders that have overlapping behavioral symptoms that might be comorbid to fetal alcohol spectrum disorder might include:
Most people with FASD have most often been misdiagnosed with ADHD due to the large overlap between their behavioral deficits.
Although the condition has no available cure, treatment can improve outcomes. Because CNS damage, symptoms, secondary disabilities, and needs vary widely by individual, there is no one treatment type that works for everyone.
Between 2017 and 2019 researchers made a breakthrough when they discovered a possible cure using neural stem cells (NSCs); they propose that if applied to a newborn, the damage can be reversed and prevent any lasting effects in the future.
Children with FAS benefit from behavioral and functional training, social skill training, and tutoring. Support groups and talk therapy not only help the children suffering from FAS, but also help the parents and siblings of these children.
By knowing what developmental stages and tasks children follow, treatment and interventions for FAS can be tailored to helping a person meet developmental tasks and demands successfully. If a person is delayed in the adaptive behavior domain, for instance, then interventions would be recommended to target specific delays through additional education and practice (e.g., practiced instruction on tying shoelaces), giving reminders, or making accommodations (e.g., using slip-on shoes) to support the desired functioning level. This approach is an advance over behavioral interventions, because it takes the person's developmental context into account while developing interventions.
An understanding of the developmental framework would presumably inform and enhance the advocacy model, but advocacy also implies interventions at a systems level as well, such as educating schools, social workers, and so forth on best practices for FAS. However, several organizations devoted to FAS also use the advocacy model at a community practice level as well.
The prognosis of FASD is variable depending on the type, severity, and whether treatment is issued. Prognostic disabilities are divided into primary and secondary disabilities.
The primary disabilities of FAS are the functional difficulties with which the child is born as a result of CNS damage due to prenatal alcohol exposure.
Functional difficulties may result from CNS damage in more than one domain, but common functional difficulties by domain include: Note that this is not an exhaustive list of difficulties.
The secondary disabilities of FAS are those that arise later in life, secondary to CNS damage. These disabilities often emerge over time due to a mismatch between the primary disabilities and environmental expectations; secondary disabilities can be ameliorated with early interventions and appropriate supportive services.
Six main secondary disabilities were identified in a University of Washington research study of 473 subjects diagnosed with FAS, PFAS (partial fetal alcohol syndrome), and ARND (alcohol-related neurodevelopmental disorder):
Eight factors were identified in the same study as universal protective factors that reduced the incidence rate of the secondary disabilities:
Malbin (2002) has identified the following areas of interest and talents as strengths that often stand out for those with FASD and should be utilized, like any strength, in treatment planning:
Globally, one in 10 women drinks alcohol during pregnancy. Out of this population, 20% binge drink and have four or more alcoholic drinks per single occasion. The use of alcohol during pregnancy occurs at different rates across the world, potentially due to various cultural differences and legislation. The five countries with the highest prevalence of alcohol use during pregnancy are Ireland (60%), Belarus (47%), Denmark (46%), the UK (41%), and the Russian Federation (37%).
In a recent count, the prevalence of having any FASD disorder was 1 person out of 20, but some people estimate it could be as high as 1 in 7. The rates of FAS and FASD are likely to be underestimated, because of the difficulty in making the diagnosis and the reluctance of clinicians to label children and mothers.
A 2015 review article estimated the overall costs to Canada from FASD at $9.7 billion (including from crime, healthcare, education, etc.).
In South Africa, some populations have rates as high as 9%.
FASD is estimated to affect between 1-2% and 5% of people in the United States and Western Europe. FAS is believed to occur in between 0.2 and 9 per 1,000 live births in the United States. Using medical and other records, CDC studies have identified 0.2 to 1.5 infants with FAS for every 1,000 live births in certain areas of the United States. A more recent CDC study of 2010 data analyzed medical and other records and found FAS in 0.3 out of 1,000 children from 7 to 9 years of age.
The lifetime cost per child with FAS in the United States was estimated at $2 million (for an overall cost across the country of over $4 billion) by the CDC in 2002.
Some hold that ancient sources describe the negative effects of alcohol during pregnancy, identifying admonitions from ancient Greek, Roman, the Talmud, and the Bible. For example, Plato writes in his fourth-century B.C. Laws (6.775): "Drinking to excess is a practice that is nowhere seemly ... nor yet safe. ... It behooves both bride and bridegroom to be sober ... in order to ensure, as far as possible, in every case that the child that is begotten may be sprung from the loins of sober parents." The sixth-century AD Talmud (Kethuboth 60b) cautions, "One who drinks intoxicating liquor will have ungainly children." However, ancient sources rarely, if ever, distinguish maternal alcohol consumption from paternal, and are more concerned with conception than pregnancy. The sources can often be viewed as expressing heredity, that children are likely to turn out like their (alcoholic) parents, rather than presenting the modern viewpoint that alcohol itself has an impact.
In France in 1957, Jacqueline Rouquette had described 100 children whose parents were alcoholics in a thesis, which was not published. "She gave a good description in certain cases of the facies" according to her mentor, Paul Lemoine.
In 1968, Paul Lemoine of Nantes, published a study in a French medical journal about children with distinctive features whose mothers were alcoholics.
In 1978, within nine years of the Washington discovery, animal studies, including non-human monkey studies carried out at the University of Washington Primate Center by Sterling Clarren, had confirmed that alcohol was a teratogen. By 1978, 245 cases of FAS had been reported by medical researchers, and the syndrome began to be described as the most frequent known cause of intellectual disability. In 1979, the Washington and Nantes findings were confirmed by a research group in Gothenburg, Sweden. Researchers in France, Sweden, and the United States were struck by how similar these children looked, though they were not related, and how they behaved in the same unfocused and hyperactive manner.
Over time, subsequent research and clinical experience suggested that a range of effects could arise from prenatal alcohol exposure. The term fetal alcohol effects (FAE) was used for alcohol-related neurodevelopmental disorder and alcohol-related birth defects. It was initially used in research studies to describe humans and animals in whom teratogenic effects were seen after confirmed prenatal alcohol exposure (or unknown exposure for humans), but without obvious physical anomalies. Smith (1981) described FAE as an "extremely important concept" to highlight the debilitating effects of brain damage, regardless of the growth or facial features. This term fell out of favor with clinicians in the 1990s because it was often regarded by the public as a less severe disability than FAS, when in fact its effects could be just as detrimental. In 1996, the replacement terms ARBD and ARND were introduced. In 2002, the US Congress mandated that the CDC develop diagnostic guidelines for FAS and in 2004 a definition of a term that already had been used by some in the nineties, the Fetal Alcohol Spectrum Disorder (FASD) was adopted,> to include FAS as well as other conditions resulting from prenatal alcohol exposure.
Currently, FAS is the only expression of prenatal alcohol exposure defined by the International Statistical Classification of Diseases and Related Health Problems and assigned ICD-9 and diagnoses.
Alcohol-related birth defects (ARBD), formerly known as possible fetal alcohol effect (PFAE), was a term proposed as an alternative to FAE and PFAE. The IOM presents ARBD as a list of congenital anomalies that are linked to maternal alcohol use but have no key features of FASD. PFAE and ARBD have fallen out of favor because these anomalies are not necessarily specific to maternal alcohol consumption and are not criteria for diagnosis of FASD.
Criminalization of substance use during pregnancy because of harm to the fetus or child is fiercely debated. Elizabeth Armstrong has questioned the zero-tolerance approach taken towards alcohol consumption during pregnancy, describing it as a moral panic. While heavy alcohol consumption during pregnancy is known to be damaging to the unborn child, the effects of low intakes remain debatable, particularly in the absence of randomized controlled trials (c.f. § Causes). The UK's abstinence recommendation was not chosen based on scientific evidence, but rather because it was simple advice that would ensure no one underestimated the risk. Tennessee's 2014 fetal assault law (which expired in 2016) was criticized for not addressing alcohol use. The law criminalized opioid use during pregnancy and resulted in women avoiding professional medical care for fear of prosecution. A wide variety of professional organizations oppose criminalization. Minnesota, North Dakota, Oklahoma, South Dakota, and Wisconsin have statutory authorization for the involuntary civil commitment of women who abuse alcohol during pregnancy.
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Q10.3†, Q38.0*, Q38.0†
R94.1
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F91
F80, F80.1, F80.2, F80.9
H65.2,H90.2,H90.5,H65.0
H54,H52.2,H52.6,H54.2/54.4/54.5
F89
P07.3
F10.2/F19.2
Coccygeal fovea (Q14.1‡). Retinal tortuosity (Q14.1§)
Q76.4
F90.0
Q10.0¶
Q75.2
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