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==Prognosis==
==Prognosis==
===Primary disabilities===
The primary disabilities of FASD are the functional difficulties with which the child is born as a result of CNS damage due to prenatal alcohol exposure.<ref name=2disabilities/> Often, primary disabilities are mistaken as ''behavior problems'', but the underlying CNS damage is the originating source of a functional difficulty<ref name=MalbinFAE>Malbin, D. (1993). ''Fetal Alcohol Syndrome, Fetal Alcohol Effects: Strategies for Professionals''. Center City, MN: Hazelden. ISBN 0-89486-951-5</ref> (rather than a mental health condition, which is considered a secondary disability).


The exact mechanisms for functional problems of primary disabilities are not always fully understood, but [[Animal testing|animal studies]] have begun to shed light on some correlates between functional problems and brain structures damaged by prenatal alcohol exposure.<ref name=FASGuide/> Representative examples include:
*[[Learning disability|Learning impairments]] are associated with impaired [[dendrite]]s of the [[hippocampus]]<ref>Abel, E.L., Jacobson, S., & Sherwin, B.T. (1983). In utero alcohol exposure: Functional and structural brain damage. ''Neurobehavioral Toxicology and Teratology'', ''5'', 363-366.</ref>
*Impaired [[Motor skill|motor development]] and functioning are associated with reduced size of the [[cerebellum]]<ref>Meyer, L.S., Kotch, L.E., & Riley, E.P. (1990). Neonatal ethanol exposure: Functional alterations associated with cerebellar growth retardation. ''Neurobehavioral Toxicology and Teratology'', ''12(1)'', 15-22.</ref>
*[[Hyperactivity]] is associated with decreased size of the [[corpus callosum]]<ref>Zimmerberg, B., & Mickus, L.A. (1990). Sex differences in corpus callosum: Influence of prenatal alcohol exposure and maternal undernutrition. ''Brain Research'', ''537'', 115-122.</ref>

Functional difficulties stemming from a primary disability can generally be categorized using the Ten Brain Domains<ref name=Lang/> and allowing for hard neurological conditions (e.g., [[seizure disorder]] due to prenatal alcohol) to be included. Some functional difficulties may result from CNS damage in more than one domain, but common functional difficulties by domain include:<ref name=MalbinFAE/><ref name=FASGuide/><ref name=MalbinTry/><ref name=McCreight>McCreight, B. (1997). ''Recognizing and Managing Children with Fetal Alcohol Syndrome/Fetal Alcohol Effects: A Guidebook''. Washington, DC: CWLA. ISBN 0-87868-607-X.</ref> ''(This is not an exhaustive list of difficulties.)''
*'''Achievement''' - [[Learning disability|Learning disabilities]]
*'''Adaptive behavior''' - Poor [[Deferred gratification|impulse control]], poor personal boundaries, poor [[anger management]], stubbornness, intrusive behavior, too friendly with strangers, poor [[daily living skills]], developmental delays
*'''Attention''' - [[ADHD|Attention-Deficit/Hyperactivity Disorder]] (ADHD), poor attention or concentration, distractible
*'''Cognition''' - [[Mental retardation]], confusion under pressure, poor [[Abstraction|abstract skills]], distinguishing between fantasy and reality, slower [[cognitive processing]]
*'''Executive functioning''' - Poor [[Decision making|judgment]], [[Processing disorder|Information-processing disorder]], poor at perceiving patterns, poor cause and effect reasoning, inconsistent at linking words to actions, poor [[Generalization|generalization]] ability
*'''Language''' - [[Expressive language disorder|Expressive]] or [[Mixed receptive-expressive language disorder|receptive]] language disorders, grasp parts not whole concepts, lack understanding of metaphor, idioms, or sarcasm
*'''Memory''' - Poor [[short-term memory]], inconsistent memory and knowledge base
*'''Motor skills''' - Poor handwriting, poor [[fine motor skill]]s, poor [[gross motor skill]]s, delayed motor skill development (e.g., riding a bicycle at appropriate age)
*'''Sensory integration''' and '''soft neurological problems''' - [[Sensory integration]] (SI) [[Sensory Integration Dysfunction|disorders]], [[Sensory defensiveness|tactile defensiveness]], under-sensitive to stimulation
*'''Social communication''' - Intrude into conversations, inability to read [[Nonverbal communication|nonverbal]] or [[Social learning (social pedagogy)|social]] cues, "chatty" but without substance

Malbin (2002) has identified the following areas of interests and talents as strengths that often stand out for those with FASD and should be utilized, like any strength, in treatment planning:<ref name=MalbinTry/> music, playing instruments, composing, singing, art, spelling, reading, computers, mechanics, woodworking, skilled vocations (welding, electrician, etc.), writing, and poetry.


==Treatment==
==Treatment==

Revision as of 22:49, 10 April 2007

Fetal alcohol spectrum disorder
SpecialtyMedical genetics, neurology Edit this on Wikidata

Fetal Alcohol Spectrum Disorder (FASD) describes a continuum of permanent birth defects caused by maternal consumption of alcohol during pregnancy, which includes, but is not limited to Fetal Alcohol Syndrome (FAS).[1] Maternal alcohol crosses the placental barrier and may stunt fetal growth or weight, create distinctive facial stigmata (as seen in the photograph on the right), damage neurons or brain structures, or cause other physical anomalies.[2][3][4] While prenatal alcohol exposure does not automatically result in FASD, the U.S. Surgeon General advises pregnant women to abstain from alcohol use due to the risk of FASD.[5]

The main effect of FASD is permanent central nervous system damage, in which developing brain cells and structures have been damaged by prenatal alcohol exposure.[3][4] The risk of brain damage exists during each trimester, since the fetal brain develops throughout the entire pregnancy.[6] Brain damage related to FASD may or may not impact IQ but may create primary functional impairments in behavior (e.g., poor emotional development, memory and attention deficits, impulsive behavior, poor cause-effect reasoning, poor comprehension of time, etc.) and other secondary disabilities (e.g., trouble with the law, mental health problems, drug addiction, etc.).[7]

Fetal alcohol exposure is regarded by some researchers as the leading known cause of mental retardation in the Western world.[8] In the United States alone, it is estimated that every year up to 40,000 infants are born with some form of FASD.[9] The lifetime medical and social costs of such children may be as high as US$800,000 across the lifespan.[10]

The term Fetal Alcohol Spectrum Disorder is not in itself a clinical diagnosis but describes the full range of disabilities that may result from prenatal alcohol exposure. Currently, Fetal Alcohol Syndrome (FAS)[11][12][13] is the only expression of prenatal alcohol exposure that is defined by the International Statistical Classification of Diseases and Related Health Problems and assigned ICD-9 and ICD-10 diagnoses. There are a number of other subtypes with evolving nomenclature and definitions based on partial expressions of FAS, including Partial Fetal Alcohol Syndrome (PFAS), Alcohol-Related Neurodevelopmental Disorder (ARND), Alcohol-Related Birth Defects (ARBD), and Fetal Alcohol Effect (FAE).

History

Historical references to FASD

Anecdotal accounts of prohibitions against maternal alcohol use from biblical, ancient Greek, and ancient Roman sources have been reviewed that imply an historical awareness between maternal alcohol use and negative child outcomes.[14] This assertion has been repeated in subsequent articles and books, but a more recent review of the original source material does not support such ancient knowledge.[15]

The earliest known observation of possible links between maternal alcohol use and fetal damage may have been made in 1899 by Dr. William Sullivan, a Liverpool prison physician who noted higher rates of stillbirth for 120 alcoholic female prisoners than their sober female relatives and suggested the causal agent to be alcohol use.[16] This contradicted the predominating belief at the time that heredity caused mental retardation, poverty, and criminal behavior, which contemporary studies on the subjects usually concluded.[17] A case study popular in the early 1900s by Henry H. Goddard involved the Kallikak family and represents this earlier perspective,[18] though later researchers have suggested that the Kallikaks almost certainly had FASD.[19] Studies and discussions on alcoholism also supported the heredity argument through the mid-1900s.[20]

Prior to Fetal Alcohol Syndrome being specifically identified and named in 1973, a few studies had noted differences between the children of mothers who used alcohol during pregnancy or breast-feeding and those who did not, but identified alcohol use as a possible contributing factor rather than heredity.[17]

Recognition as a syndrome

Fetal Alcohol Syndrome, or FAS, was named in 1973 by two dysmorphologists, Drs. Kenneth Lyons Jones and David W. Smith of the University of Washington Medical School in Seattle. They identified a pattern of "craniofacial, limb, and cardiovascular defects associated with prenatal onset growth deficiency and developmental delay" in eight unrelated children of three ethnic groups, all born to mothers who were alcoholics.[11] The pattern of malformations indicated that the damage was prenatal. News of the discovery shocked some, while others were skeptical of the findings.[21]

Dr. Paul Lemoine of Nantes, France had already published a study in a French medical journal in 1968 about children with distinctive features whose mothers were alcoholics,[3] and in the U.S., Christy Ulleland and colleagues at the University of Washington Medical School[4] had conducted an 18-month study in 1968-1969 documenting the risk of maternal alcohol consumption among the offspring of 11 alcoholic mothers. The Washington and Nantes findings were confirmed by a research group in Gothenburg, Sweden in 1979.[22] 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.[22]

Within four years of the Washington discovery, animal studies, including non-human primate studies carried out at the University of Washington Primate Center by Dr. 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 mental retardation.

While many syndromes are eponymous, or named after the physician first reporting the association of symptoms, Dr. Smith named FAS after alcohol, the causal agent of the symptoms.[23] His reasoning for doing so was to promote prevention of FAS, believing that if people knew maternal alcohol consumption caused the syndrome then abstinence during pregnancy would follow from patient education and public awareness.[23] Nobody was aware of the full range of possible birth defects from FASD or its prevalence rate at that time,[23] but admission of alcohol use during pregnancy can feel stigmatizing to birth mothers and complicate diagnostic efforts[24] of a syndrome with its preventable cause in the name.

Over time, as it became apparent through subsequent research and clinical experience that a range of effects (including physical, behavioral, and cognitive) could arise from prenatal alcohol exposure, the term Fetal Alcohol Spectrum Disorder, or FASD, was developed to include FAS as well as other conditions resulting from prenatal alcohol exposure.[23]

Diagnostic systems

Since the original syndrome of Fetal Alcohol Syndrome (FAS) was reported in 1973, four FASD diagnostic systems that diagnose FAS and other FASD conditions have been developed in North America:

  • The Institute of Medicine's guidelines for FAS, the first system to standardize diagnoses of individuals with prenatal alcohol exposure,[13]
  • The University of Washington's "The 4-Digit Diagnostic Code," which ranks the four key features of FASD on a Likert scale of one to four and yields 256 descriptive codes that can be categorized into 22 distinct clinical categories, ranging from FAS to no findings,[1]
  • The Centers for Disease Control's "Fetal Alcohol Syndrome: Guidelines for Referral and Diagnosis," which established general consensus on the diagnosis FAS in the U.S. but deferred addressing other FASD conditions,[24] and
  • Canadian guidelines for FASD diagnosis, which established criteria for diagnosing FASD in Canada and harmonized most differences between the IOM and University of Washington's systems.[25]

Each diagnostic system requires that a complete FASD evaluation include assessment of the four key features of FASD, described below. A positive finding on all four features is required for a diagnosis of FAS, the first diagnosable condition of FASD that was discovered. However, 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 that is not "full-blown FAS." Diagnoses are described in a following section.

Key features of FASD

Each of the key features of FASD can vary widely within one individual exposed to prenatal alcohol. While consensus exists for the definition and diagnosis of FAS across diagnostic systems, minor variations among the systems lead to differences in definitions and diagnostic cut-off criteria for other disgnoses across the FASD continuum. (The central nervous system (CNS) damage criteria particularly lack clear consensus.) A working knowledge of the key features is helpful in understanding FASD diagnoses and conditions, and each are reviewed with attention to similarities and differences across the four diagnostic systems.

Growth deficiency

File:NewbornFAS.jpg
Newborn infant with FAS. Photo from the clinic of Dr. Jon Aase, University of NM.[1]

In terms of FASD, growth deficiency is defined as significantly below average height, weight or both due to prenatal alcohol exposure, and can be assessed at any point in the lifespan. Growth measurements must be adjusted for parental height, gestational age (for a premature infant), and other postnatal insults (e.g., poor nutrition), although birth height and weight are the preferred measurements.[1] Deficiencies are documented when height or weight falls at or below the 10th percentile of standardized growth charts appropriate to the patient's population.[26]

Criteria for FASD are least specific in the IOM diagnostic system ("low birth weight..., decelerating weight not due to nutrition..., [or] disproportional low weight to height" p.4 of executive summary),[13] while the CDC and Canadian guidelines use the 10th percentile as a cut-off to determine growth deficiency.[24][25] The "4-Digit Diagnostic Code" allows for mid-range gradations in growth deficiency (between the 3rd and 10th percentiles) and severe growth deficiency at or below the 3rd percentile.[1] Growth deficiency (at severe, moderate, or mild levels) contributes to diagnoses of FAS and PFAS, but not ARND or static encephalopathy.

Growth deficiency is ranked as follows by the "4-Digit Diagnostic Code:"[1]

  • Severe - Height and weight at or below the 3rd percentile.
  • Moderate - Either height or weight at or below the 3rd percentile, but not both.
  • Mild - Either height or weight or both between the 3rd and 10th percentiles.
  • None - Height and weight both above the 10th percentile.

In the initial studies that discovered FAS, growth deficiency was a requirement for inclusion in the studies; thus, all the original patients with FAS had growth deficiency as an artifact of sampling characteristics used to establish criteria for the syndrome.[27] That is, growth deficiency is a key feature of FASD because growth deficiency was a criterion for inclusion in the original study that determined the definition of FAS. This reinforces assertions that growth deficiency and FAS facial features are less critical for understanding the disability of FASD than the neurobehavioral sequelae to the brain damage.[13]

FAS facial features

File:FASLip.jpg
A thin upper lip and smooth philtrum are diagnostic of FAS. Photo from the University of Washington FAS DPN website.[2]

Several characteristic craniofacial abnormalities are visible in individuals with FAS,[28] but these may be mild or even non-existent in other FASD conditions.[1] The presence of FAS facial features indicates brain damage, though brain damage may also exist in their absence. FAS facial features (and most other visible, but non-diagnostic, deformities) are believed to be caused mainly during the 10th and 20th week of gestation.[29]

Refinements in diagnostic criteria since 1975 have yielded three distinctive and diagnostically significant facial features known to result from prenatal alcohol exposure and distinguishes FASD from other disorders with partially overlapping characteristics.[30][31] The three FAS facial features are:

  • A smooth philtrum - The divot or groove between the nose and upper lip flattens with increased prenatal alcohol exposure (see photo at right).
  • Thin vermilion - The upper lip thins with increased prenatal alcohol exposure (see photo at right).
  • Small palpebral fissures - Eye width shortens with increased prenatal alcohol exposure.

Measurement of FAS facial features uses criteria developed by the University of Washington. The lip and philtrum are measured by a trained physician with the Lip-Philtrum Guide,[32] a 5-point Likert Scale with representative photographs of lip and philtrum combinations ranging from normal (ranked 1) to severe (ranked 5). Palpebral fissure length (PFL) is measured in millimeters with either calipers or a clear ruler and then compared to a PFL growth chart, also developed by the University of Washington.[33]

All four diagnostic systems have agreed upon this method for determining FAS facial feature severity rankings. 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:[1][34]

  • Severe - All three facial features ranked independently as severe (lip ranked at 4 or 5, philtrum ranked at 4 or 5, and PFL less than or equal to two standard deviations below average).
  • Moderate - Two facial features ranked as severe and one feature ranked as moderate (lip or philtrum ranked at 3, or PFL between one and two standard deviations below average).
  • Mild - A mild ranking of FAS facial features covers a broad range of facial feature combinations:
    • Two facial features ranked severe and one ranked within normal limits,
    • One facial feature ranked severe and two ranked moderate, or
    • One facial feature ranked severe, one ranked moderate and one ranked within normal limits.
  • None - All three facial features ranked within normal limits.

These distinctive facial features are not necessary for every diagnosis within the FASD spectrum, but their existence in a patient does strongly correlate to brain damage. Sterling Clarren of the University of Washington's Fetal Alcohol and Drug Unit told a conference in 2002:

I have never seen anybody with this whole face who doesn't have some brain damage. In fact in studies, as the face is more FAS-like, the brain is more likely to be abnormal. The only face that you would want to counsel people or predict the future about is the full FAS face. But the risk of brain damage increases as the eyes get smaller, as the philtrum gets flatter, and the lip gets thinner. The risk goes up but not the diagnosis.

At one-month gestation, the top end of your body is a brain, and at the very front end of that early brain, there is tissue that has been brain tissue. It stops being brain and gets ready to be your face ... Your eyeball is also brain tissue. It's an extension of the second part of the brain. It started as brain and "popped out." So if you are going to look at parts of the brain from alcohol damage, or any kind of damage during pregnancy, eye malformations and midline facial malformations are going to be very actively related to the brain across syndromes ... and they certainly are with FAS.[4]

Central nervous system damage

File:FASbrains2.gif
The image shows the brains of two six-week-old infants. The left brain is confirmed no alcohol exposure, while the right brain is of an infant with FAS. [3] The photograph is from the clinic of Dr. Sterling Clarren of the University of Washington.

Central nervous system (CNS) damage is the primary key feature of any FASD diagnosis. Prenatal alcohol exposure, a teratogen, can damage the brain across a continuum of gross to subtle impairments, depending on the amount, timing, and frequency of the exposure as well as genetic predispositions of the fetus and mother.[13][35] While functional abnormalities are the behavioral and cognitive expressions of the FASD disability, CNS damage can be assessed in three areas: structural, neurological, and functional impairments.

All four diagnostic systems allow for assessment of CNS damage in these areas, but criteria vary. The IOM system requires structural or neurological impairment for a diagnosis of FAS, but also allows a "complex pattern" of funtional anomalies for diagnosing PFAS and ARND.[13] 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 diagnoses of FAS, PFAS, and ARND.[1][24] The "4-Digit Diagnostic Code" also allows for an FASD diagnosis when only two functional domains are measured at two standard deviations or worse.[1] The "4-Digit Diagnostic Code" further elaborates the degree of CNS damage according to four ranks:

  • Definite - Structural impairments or neurological impairments for FAS or static encephalopathy.
  • Probable - Significant dysfunction of two standard deviations or worse in three or more functional domains.
  • Possible - Mild to moderate dysfunction of two standard deviations or worse in one or two functional domains or by judgment of the clinical evaluation team that CNS damage cannot be dismissed.
  • Unlikely - No evidence of CNS damage.

Structural

Structural abnormalities of the brain are observable, 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).[13]

Microcephaly is determined by comparing head circumference (often called occipitofrontal circumference, or OFC) to appropriate OFC growth charts.[26] Other structural impairments must be observed through medical imaging techniques by a trained physician. Because imaging procedures are expensive and relatively inaccessible to most patients, diagnosis of FASD 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.[13][1][24][25]

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.[36] 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.[37]

As of 2002, there were 25 reports of autopsies on infants known to have FASD. The first was in 1973, on an infant who died shortly after birth.[14] The examination revealed extensive brain damage, including microcephaly, migration anomalies, callosal dysgenesis, and a massive neuroglial, leptomeningeal heterotopia covering the left hemisphere.[38]

In 1977, Dr. 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 (which connects the two brain hemispheres) and cerebellum.[38] FASD 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.[38]

Neurological

When structural impairments are not observable or do not exist, neurological impairments are assessed. In the context of FASD, neurological impairments are caused by prenatal alcohol exposure which causes general neurological damage to the central nervous system (CNS), the peripheral nervous system, or the autonomic nervous system. A determination of a neurological problem must be made by a trained physician, and must not be due to a postnatal insult, such as a high fever, concussion, traumatic brain injury, etc.

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.[13][1][24][25]

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, poor eye-hand coordination, or sensory integration dysfunction. Many soft signs have norm-referenced criteria, while others are determined through clinical judgment.

Functional

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.[13][1][24][25] 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[13] and only CDC guidelines label developmental delays as such,[24] so criteria (and FASD diagnoses) vary somewhat across diagnostic systems.

The four diagnostic systems list various CNS domains that can qualify for functional impairment that can determine an FASD diagnosis:

Ten Brain Domains

A recent effort to standardize assessment of functional CNS damage has been suggested by an experienced FASD diagnostic team in Minnesota.[39] The proposed framework attempts to harmonize IOM, 4-Digit Diagnostic Code, CDC, and Canadian guidelines for measuring CNS damage viz-a-viz FASD evaluations and diagnosis. The standardized approach is referred to as the Ten Brain Domains and encompasses aspects of all four diagnostic systems' recommendations for assessing CNS damage due to prenatal alcohol exposure. The framework provides clear definitions of brain dysfunction, specifies empirical data needed for accurate diagnosis, and defines intervention considerations that address the complex nature of FASD with the intention to avoid common secondary disabilities.[40]

The proposed Ten Brain Domains include:[40]

The Fetal Alcohol Diagnostic Program (FADP)[39] 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

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), or other reliable sources.

Exposure level is assessed as Confirmed Exposure, Unknown Exposure, and Confirmed Absence of Exposure by the IOM, CDC and Canadian diagnostic systems. The "4-Digit Diagnostic Code" further distinguishes confirmed exposure as High Risk and Some Risk:

  • High Risk - Confirmed use of alcohol during pregnancy known to be at high blood alcohol levels (100mg/dL or greater) delivered at least weekly in early pregnancy.
  • Some Risk - Confirmed use of alcohol during pregnancy with use less than High Risk or unknown usage patterns.
  • Unknown Risk - Unknown use of alcohol during pregnancy.
  • No Risk - Confirmed absence of prenatal alcohol exposure.

Confirmed exposure

Amount, frequency, and timing of prenatal alcohol use can dramatically impact the other three key features of FASD. While consensus exists that alcohol is a teratogen, there is no clear consensus as to what level of exposure is toxic.Cite error: A <ref> tag is missing the closing </ref> (see the help page).

"The 4-Digit Diagnostic Code" ranking system distinguishes between levels of prenatal alcohol exposure as High Risk and Some Risk. It operationalizes high risk exposure as a blood alcohol concentration (BAC) greater than 100mg/dL delivered at least weekly in early pregnancy. This BAC level is typically reached by a 55kg female drinking six to eight beers in one sitting.[1]

Unknown exposure

For many adopted or adult patients and children in foster care, records or other reliable sources may not be available for review. Reporting alcohol use during pregnancy can also be stigmatizing to birth mothers, especially if alcohol use is ongoing.[24] In these cases, all diagnostic systems use an unknown prenatal alcohol exposure designation. A diagnosis of FAS is still possible with an unknown exposure level if other key features of FASD are present at clinical levels.

Confirmed absence of exposure

Confirmed absence of exposure would apply to planned pregnancies in which no alcohol was used or pregnancies of women who do not use alcohol or report no use during the pregnancy. This designation is relatively rare, as most patients presenting for an FASD evaluation are at least suspected to have had a prenatal alcohol exposure due to presence of other key features of FASD.[1][24]

Related features

Other conditions may commonly co-occur with FASD, stemming from prenatal alcohol exposure. However, these conditions are considered ARBD[13] and not a part of an FASD diagnosis.

Diagnosis

While the four diagnostic systems essentially agree on criteria for Fetal Alcohol Syndrome (FAS), there are still differences when full criteria for FAS are not met. This has resulted in differing and evolving nomenclature for other conditions across the spectrum of FASD, which may account for such a wide variety of terminology. Most individuals with deficits resulting from prenatal alcohol exposure do not express all features of FAS and fall into other FASD conditions.[13] 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.[25]

Fetal Alcohol Syndrome (FAS)

Fetal Alcohol Syndrome or FAS is the only expression of FASD that has garnered consensus among experts to become an official ICD-9 and ICD-10 diagnosis. To make this diagnosis or 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 and/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.[40] 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.

The following criteria must be fully met for an FAS diagnosis:[1][13][24][25]

  1. Growth deficiency - Prenatal or postnatal height or weight (or both) at or below the 10th percentile[26]
  2. FAS facial features - All three FAS facial features present[33]
  3. Central nervous system damage - Clinically significant structural, neurological, or functional impairment
  4. Prenatal alcohol exposure - Confirmed or Unknown prenatal alcohol exposure

Other FASD diagnoses

Other FASD conditions are partial expressions of FAS, and here the terminology shows less consensus across diagnostic systems, which has led to some confusion for clinicians and patients. A key point to remember is that other FASD conditions may create disabilities similar to FAS if the key area of central nervous system damage shows clinical deficits in two or more of the Ten Brain Domains. Essentially, growth deficiency and/or FAS facial features may be mild or nonexistent in other FASD conditions, but clinically significant brain damage of the central nervous system is present. 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.

Partial FAS (PFAS)

Previously known as Atypical FAS in the 1997 edition of the "4-Digit Diagnostic Code," patients with Partial Fetal Alcohol Syndrome 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.

The following criteria must be fully met for a diagnosis of Partial FAS:[1][13][25]

  1. Growth deficiency - Growth or height may range from normal to deficient[26]
  2. FAS facial features - Two or three FAS facial features present[33]
  3. Central nervous system damage - Clinically significant structural, neurological, or functional impairment in three or more of the Ten Brain Domains[40]
  4. Prenatal alcohol exposure - Confirmed prenatal alcohol exposure

Alcohol-Related Neurodevelopmental Disorder (ARND)

Alcohol-Related Neurodevelopmental Disorder (ARND) was initially suggested by the Institute of Medicine to replace the term FAE and focus 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.[17] 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.[17][42]

The following criteria must be fully met for a diagnosis of ARND or static encephalopathy:[1][13][25]

  1. Growth deficiency - Growth or height may range from normal to minimally deficient[26]
  2. FAS facial features - Minimal or no FAS facial features present[33]
  3. Central nervous system damage - Clinically significant structural, neurological, or functional impairment in three or more of the Ten Brain Domains[40]
  4. Prenatal alcohol exposure - Confirmed prenatal alcohol exposure

Fetal Alcohol Effects (FAE)

This term 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.[12] Smith (1981) described FAE as an "extremely important concept" to highlight the debilitating effects of brain damage, regardless of the growth or facial features.[43] This term has fallen out of favor with clinicians because it was often regarded by the public as a less severe disability than FAS, when in fact its effects can be just as detrimental.[44]

Alcohol-Related Birth Defects (ARBD)

Formerly known as Possible Fetal Alcohol Effect (PFAE),[12] Alcohol-Related Birth Defects (ARBD) was a term proposed as an alternative to FAE and PFAE[45] The IOM presents ARBD as a list of congenital anomalies that are linked to maternal alcohol use but have no key features of FASD.[13] 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.[17] The Canadian guidelines recommend that ARBD should not be used as an umbrella term or diagnostic category for FASD.[25]

Differential diagnosis

The CDC reviewed nine syndromes that have overlapping features with FASD; however, none of these syndromes include all three FAS facial features, and none are the result of prenatal alcohol exposure:[24]

Prognosis

Treatment

Traditional medical interventions (i.e., psychoactive drugs) are frequently tried on those with FASD because many FASD symptoms are mistaken for or overlap with other disorders, most notably ADHD.[46] For instance, an FASD patient who is inattentive, does not complete schoolwork, and cannot stay seated has characteristics that an untrained person could easily mistake as ADHD, especially if the patient is not yet diagnosed with FASD. A common course of action would be a medication referral to a pediatrician, who might recommend a trial of Ritalin for the symptoms. For FASD though, clinical experience (e.g., that of neuropsychiatrist Dr. Kieran O'Malley[47]) suggests that Ritalin may increase restlessness and aggressiveness in patients with FASD, while preliminary research shows Dexedrine may be more promising for ADHD-like symptoms stemming from FASD.[46]

Medications are often important in treating FASD, but should be used in conjunction with other intervention approaches to address the multiple disabilities that arise from FASD.

Traditional behavioral interventions are predicated on learning theory, which is the basis for many parenting and professional strategies and interventions.[42] Along with ordinary parenting styles, such strategies are frequently used by default for treating those with FASD, as the diagnoses Oppositional Defiance Disorder (ODD), Conduct Disorder, Reactive Attachment Disorder (RAD), etc. often overlap with FASD (along with ADHD), and these are sometimes thought to benefit from behavioral interventions. Frequently, a patient's poor academic achievement results in special education services, which also utilizes principles of learning theory, behavior modification, and outcome-based education.

Because the "learning system" of a patient with FASD is damaged, however, behavioral interventions are not always successful, or not successful in the long run, especially because overlapping disorders frequently stem from or are exacerbated by FASD.[42] Kohn (1999) suggests that a rewards-punishment system in general may work somewhat in the short-term but is unsuccessful in the long-term because that approach fails to consider content (i.e., things "worth" learning), community (i.e., safe, cooperative learning environments), and choice (i.e., making choices versus following directions).[48] While these elements are important to consider when working with FASD and have some usefulness in treatment, they are not alone sufficient to promote better outcomes.[42] Kohn's minority challenge to behavioral interventions does illustrate the importance of factors beyond learning theory when trying to promote improved outcomes for FASD, and supports a more multi-model approach that can be found in varying degrees within the advocacy model and neurobehavioral approach.

The neurobehavioral approach focuses on the neurological underpinnings from which behaviors and cognitive processes arise.[42] It is an integrative perspective that acknowledges and encourages a multi-modal array of treatment interventions that draw from all FASD treatment approaches. The neurobehavioral approach is a serious attempt at shifting single-perspective treatment approaches into a new, coherent paradigm that addresses the complexities of problem behaviors and cognitions emanating from the CNS damage of FASD.

The neurobehavioral approach's main proponent is Diane Malbin, MSW, a recognized speaker and trainer in the FASD field, who first articulated the approach with respect to FASD and characterizes it as "Trying differently rather than trying harder."[49] The idea to try differently refers to trying different perspectives and intervention options based on effects of the CNS damage and particular needs of the patient, rather than trying harder at implementing behavioral-based interventions that have consistently failed over time to produce improved outcomes for a patient. This approach also encourages more strength-based interventions, which allow a patient to develop positive outcomes by promoting success linked to the patient's strengths and interests.[42]

References

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External links