Fetal alcohol syndrome

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Fetal alcohol spectrum disorders (FASDs) are a group of disorders that encompass fetal alcohol syndrome (FAS), partial fetal alcohol syndrome, alcohol-related birth defects (ARBD), alcohol-related neurodevelopmental disorder (ARND), and neurobehavioral disorder associated with prenatal alcohol exposure (ND-PAE). The most potent risk factor for FASD's include prenatal exposure to alcohol. FASD's is the leading preventable cause of birth defects and intellectual and neurodevelopmental disabilities in children. Early recognition, diagnosis, and therapy for FASD is associated with improved outcomes.

History

• In 1899. Dr William Sullivan, a Liverpool prison physician was the first to report a case study describing an association between maternal alcohol use and fetal damage in female prisoners.
• In 1968, Fetal alcohol syndrome was discovered and separated as a entire new diseases at the University of Washington’s Harborview Medical Center in Washington.
• By 1973, sufficient research evidence had accrued to devise basic diagnostic criteria such that FAS became established as a diagnostic entity.
• In 1973, Dr keneth Lyons Jones and David W Smith professors of University of Washington Medical School in Seattle was the first to introduce the term Fetal alcohol syndrome.
• 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.
• In 1981, The US Surgeon General issued the first public health advisory that alcohol during pregnancy is responsible birth defects.
• In 1989, US Congress mandated warning labels about potential birth defects on alcohol products.

Classification

According to American Academy of Pediatrics fetal alcohol spectrum disorders (FASDs) encompasses group of disorders based upon the manifestations into 5 sub types.

• Fetal alcohol syndrome (FAS)
• Partial fetal alcohol syndrome
• Alcohol-related birth defects (ARBD)
• Alcohol-related neurodevelopmental disorder (ARND)
• Neurobehavioral disorder associated with prenatal alcohol exposure (ND-PAE).

 

Fetal alcohol spectrum disorders

Fetal alcohol syndrome (FAS)

Partial fetal alcohol syndrome

Alcohol-related birth defects (ARBD)

Alcohol-related neurodevelopmental disorder (ARND)

Neurobehavioral disorder associated with prenatal alcohol exposure (ND-PAE)

A▪ Confirmed maternal alcohol exposure. B▪ Evidence of characteristic pattern of facial anomalies C▪ Evidence of growth retardation D▪ Evidence of CNS abnormalities

A, B, C, D and E▪ Evidence of a complex pattern of behavior or cognitive abnormalities

▪ Cardiac ▪ Skeletal ▪ Renal ▪ Ocular ▪ Auditory ▪ Other

A,B, D, and E ▪ No growth retardation

Behavioral abnormalities predominant with no growth retardation

Pathophysiology

• Drinking alcohol during pregnancy is the most potent etiological factor for the development of fetal alcohol syndrome disorders.
• The developing embryo is susceptible to dysmorphogenisis during the first few weeks of pregnancy.
• Alcohol can pass through umbilical cord to the baby effecting morphogeneisis leading to
  • Miscarriage
  • Stillbirth
  • Behavioral, and intellectual disabilities..

Risk Factors

The most potent risk factor in the development of FASD's include prenatal exposure of alcohol. Other risk factors include:

• Alcohol consumption
• Increase in maternal age
• Maternal genotype|
  • ADH1B*1/ADH1B*3
  • ADH1B*1/ADH1B*1
• Increase in parity/gravidity
• Higher birth order of the child

• Low socioeconomic status

Epidemiology and Demographics

Prevalence

• According to National Institute on Alcohol Abuse and Alcoholism study, CDC and AAP it is estimated that FASD's is prevalent in 2-5% of children in the United States.
• CDC released a fact sheet in 2016, according to which prevalence of fetal alcohol syndrome is believed to be 1 in 20 children.
• Comprehensive data on the number of individuals with an FASD in the general population of the Unites States, or by state, race or ethnicity, is currently not available.
• Journal of the American Medical Association published the results of a National Institute on Alcohol Abuse and Alcoholism study that measured the prevalence of fetal alcohol spectrum disorders (FASD) among first-grade students in four US communities. 
  • Over 6,500 children were evaluated and the most conservative estimate for FASD ranged from 1 to 5 percent, or 1 in 20 students. 
• Data from the Centers for Disease Control and Prevention (CDC) asserts that 10 percent of pregnant women report drinking alcohol and 3 percent report binge drinking, putting over 100,000 births in the US each year at high risk for FASD.

Source: CDC

Differential Diagnosis

Fetal alcohol syndrome must be differentiated from other genetic diseases, with similar manifestations such as smooth philtrum, thin vermillion border and small palpebral fissures. American academy of pediatrics and CDC reviewed and recommended 9 genetic diseases that has to screened and differentiated from FAD's which include Aarskog syndrome, Williams syndrome, Noonan syndrome, Dubowitz syndrome, Brachman-DeLange syndrome, Toluene syndrome, Fetal hydantoin syndrome, Fetal valproate syndrome, and Maternal PKU fetal effects.

Syndrome	Overlapping features	Differentiating features
Aarskog syndrome	Small nose with anteverted nares Broad philtrum Maxillary hypoplasia Wide-spaced eyes	Rounded face Down-slant to palpebral fissures Widow's peak Crease below lower lip Incomplete out folding of upper helices Dental eruption problems
Williams syndrome	Short palpebral fissures Anteverted nares Long philtrum Depressed nasal bridge Epicanthal folds	Wide mouth with full lips Stellate pattern of the iris Periorbital fullness Connective tissue disorders
Noonan syndrome	Low nasal bridge Wide-spaced eyes Epicanthal folds	Down-slant to palpebral fissures Keratoconus Wide mouth Protruding upper lip
Dubowitz syndrome	Short palpebral fissures Wide-spaced eyes Epicanthal folds	Shallow supraorbital ridge with nasal bridge near the level of the forehead Broad nasal tip
Brachman-DeLange syndrome	Long philtrum Thin vermillion border Anteverted nares Depressed nasal bridge	Single, bushy eyebrow extending across forehead Long eyelashe Downturned mouth High-arched palate, Short limbs
Toluene syndrome	Short palpebral fissures Mid-face hypoplasia Smooth philtrum Thin vermillion border	Micrognathia Large anterior fontanel Down-turned mouth corners Hair patterning abnormalities Bifrontal narrowing Ear abnormalities
Fetal hydantoin syndrome	Wide-spaced eyes Depressed nasal bridge	Short nose with bowed upper lip
Fetal valproate syndrome	Epicanthal folds Anteverted nares Long philtrum with thin vermilion border Wide-spaced eyes	High forehead Infraorbital crease or groove Small mouth
Maternal PKU fetal effects	Epicanthal folds Short palpebral fissures Long underdeveloped philtrum Thin vermillion border	Small upturned nose Round facies Prominent glabella

The following tables summarizes the differential diagnosis of individual features associated with FAS

Differential diagnosis of individual features associated with FAS
Smooth philtrum	Cornelia de Lange syndrome Floating-Harbor syndrome Geleophysic dysplasia Opitz syndrome Toluene embryopathy
Thin Vermillion border	Miller-Dieker (Lissencephaly) syndrome Fetal Valproate syndrome Geleophysic dysplasia Cornelia de Lange syndrome Toluene embryopathy
Small palpebral fissures	Campomelic dysplasia DiGeorge sequence Dubowitz syndrome Duplication 10q sequence Duplication 15q sequence FG syndrome Maternal phenylketonuria (PKU) fetal effects Oculodentodigital syndrome Opitz syndrome Trisomy 18 syndrome Williams syndrome Velocardiofacial syndrome Toluene embryopathy

Diagnosis

FASD is clinical diagnosis and there are no specific diagnostic laboratory findings associated with FASD. However, American Academy of Pediatrics and CDC brought up a diagnostic criteria

Diagnostic criteria for Fetal alcohol spectral disorders

Components of Diagnostic criteria For FASD's
Growth deficiency		Prenatal or postnatal height or weight (or both) at or below the 10th percentile
Facial features		Smooth philtrum Thin vermillion border Small palpebral fissures
Central nervous system damage	Structural	Head circumference (OFC) at or below the 10th percentile adjusted for age and sex. Clinically significant brain abnormalities observable through imaging.
	Neurological	Neurological problems not due to: Postnatal insult or Fever or Other soft neurological signs outside normal limits.
	Functional	Global cognitive or intellectual deficits representing multiple domains of deficit with performance below the 3rd percentile
		Functional deficits below the 16th percentile in at least three of the following domains: Cognitive or developmental deficits or discrepancies Executive functioning deficits Motor functioning delays Problems with attention or hyperactivity Social skills Other, such as sensory problems, pragmatic language problems, memory deficits, etc.
Maternal alcohol exposure		Confirmed prenatal alcohol exposure Unknown prenatal alcohol exposure

Diagnostic criteria for Fetal alcohol syndrome

4 diagnostic criteria had been developed in the recent times to diagnose fetal alcohol syndrome

• Four digit code
• Hoyme- Revised IOM
• Chudley–Canadian
• National Task Force/CDC

Fetal alcohol syndrome
	Facial Characterstics	Growth retardation	CNS involvement
Four digit code	Simultaneous presentation of Short palpebral fissures (≤2 SD) Thin vermillion border Smooth philtrum	Height or weight ≤10th percentile	Head circumference (OFC) ≥2 SD below Significant abnormalities in brain structure or Evidence of hard neurological findings or Significant impairment in ≥3 domains of brain function
Hoyme–Revised IOM	≥2 of the following Short palpebral fissures Thin vermillion border smooth philtrum	Height or weight ≤10th percentile	Head circumference (OFC) ≤10th percentile or Structural brain abnormality
Chudley–Canadian	Simultaneous presentation of Short palpebral fissures Thin vermillion border Smooth philtrum	Height or weight or disproportionately low weight-to-height ratio (≤10th percentile)	Evidence of ≥3 impairments in the following CNS domains Hard and soft neurologic signs Executive functioning and abstract reasoning Attention deficit/hyperactivity
National Task Force/CDC	Simultaneous presentation of Short palpebral fissures (≤10th percentile) Thin vermillion border Smooth philtrum	Height or weight ≤10th percentile at any point in time.	Head circumference (OFC) ≤10th percentile or Structural brain abnormality or Neurological problems or Other soft neurological signs outside normal limits or functional impairment as evidenced by global cognitive or intellectual deficits

History and Symptoms

Symptoms of FASDs

	Alcohol exposure	CNS abnormalities	Facial anomalies	Growth retardation
Fetal alcohol syndrome (FAS)	+	Severe	+	+
Partial fetal alcohol syndrome	+	Severe	+	-
Alcohol-related neurodevelopmental disorder (ARND)	+	Severe	-	-
Neurobehavioral disorder associated with prenatal alcohol exposure (ND-PAE).	+	Moderate	-	-

Growth deficiency

• 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.
• Deficiencies are documented when height or weight falls at or below the 10th percentile of standardized growth charts appropriate to the patient's population.
• The CDC and Canadian guidelines use the 10th percentile as a cut-off to determine growth deficiency.
• 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.
• Growth deficiency (at severe, moderate, or mild levels) contributes to diagnoses of FAS and PFAS (Partial Fetal Alcohol Syndrome), but not ARND (Alcohol-Related Neurodevelopmental Disorder) or static encephalopathy.

Facial features

Several characteristic craniofacial abnormalities are visible in individuals with FAS. 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.

Refinements in diagnostic criteria since 1975 have yielded three distinctive and diagnostically significant facial features known to result from prenatal alcohol exposure and distinguishes FAS from other disorders with partially overlapping characteristics. 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.
• Thin vermilion — The upper lip thins with increased prenatal alcohol exposure.
• Small palpebral fissures — Eye width decreases 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, 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.

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:

• 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 in a patient do 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.

Central nervous system damage

Central nervous system (CNS) damage is the primary 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. While functional abnormalities are the behavioral and cognitive expressions of the FAS 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. The "4-Digit Diagnostic Code" and CDC guidelines state that functional anomalies must measure at two standard deviations or worse in three or more functional domains for a diagnoses of FAS. 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).

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 patients, 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.

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

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. 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.

Neurological

When structural impairments are not observable or do not exist, neurological impairments are assessed. In the context of FAS, 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, 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, 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. 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 vary somewhat across diagnostic systems.

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

• Evidence of a complex pattern of behavior or cognitive abnormalities inconsistent with developmental level in the following CNS domains — sufficient for a PFAS or ARND diagnosis using IOM guidelines
  • Learning disabilities, academic achievement, impulse control, social perception, communication, abstraction, math skills, memory, attention, judgment
• Performance at two or more standard deviations on standardized testing in three or more of the following CNS domains — sufficient for an FAS, PFAS or static encephalopathy diagnosis using 4-Digit Diagnostic Code
  • Executive functioning, memory, cognition, social/adaptive skills, academic achievement, language, motor skills, attention, activity level
• General cognitive deficits (e.g., IQ) at or below the 3rd percentile on standardized testing — sufficient for an FAS diagnosis using CDC guidelines
• Performance at or below the 16th percentile on standardized testing in three or more of the following CNS domains — sufficient for an FAS diagnosis using CDC guidelines
  • Cognition, executive functioning, motor functioning, attention and hyperactive problems, social skills, sensory problems, social communication, memory, difficulties responding to common parenting practices
• Performance at two or more standard deviations on standardized testing in three or more of the following CNS domains — sufficient for an FAS diagnosis using Canadian guidelines
  • Cognition, communication, academic achievement, memory, executive functioning, adaptive behavior, social skills, social communication

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, which rules out an FAS diagnosis.

Confirmed exposure

Amount, frequency, and timing of prenatal alcohol use can dramatically impact the other three key features of FAS. While consensus exists that alcohol is a teratogen, there is no clear consensus as to what level of exposure is toxic. The CDC guidelines are silent on these elements diagnostically. The IOM and Canadian guidelines explore this further, acknowledging the importance of significant alcohol exposure from regular or heavy episodic alcohol consumption in determining, but offer no standard for diagnosis. Canadian guidelines discuss this lack of clarity and parenthetically point out that "heavy alcohol use" is defined by the National Institute on Alcohol Abuse and Alcoholism as five or more drinks per episode on five or more days during a 30 day period.

"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.

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. 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.

Related signs

Other conditions may commonly co-occur with FAS, stemming from prenatal alcohol exposure. However, these conditions are considered Alcohol-Related Birth Defects and not diagnostic criteria for FAS.

• Cardiac — A heart murmur that frequently disappears by one year of age. Ventricular septal defect most commonly seen, followed by an atrial septal defect.
• Skeletal — Joint anomalies including abnormal position and function, altered palmar crease patterns, small distal phalanges, and small fifth fingernails.
• Renal — Horseshoe, aplastic, dysplastic, or hypoplastic kidneys.
• Ocular — Strabismus, optic nerve hypoplasia (which may cause light sensitivity, decreased visual acuity, or involuntary eye movements).
• Occasional abnormalities — Ptosis of the eyelid, microophthalmia, cleft lip with or without a cleft palate, webbed neck, short neck, Tetralogy of Fallot, coarctation of the aorta, Spina bifida, and hydrocephalus.

Prognosis

Primary 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. Often, primary disabilities are mistaken as behavior problems, but the underlying CNS damage is the originating source of a functional difficulty (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 studies have begun to shed light on some correlates between functional problems and brain structures damaged by prenatal alcohol exposure. Representative examples include:

• Learning impairments are associated with impaired dendrites of the hippocampus
• Impaired motor development and functioning are associated with reduced size of the cerebellum
• Hyperactivity is associated with decreased size of the corpus callosum

Functional difficulties may result from CNS damage in more than one domain, but common functional difficulties by domain include: (This is not an exhaustive list of difficulties.)

• Achievement — Learning disabilities
• Adaptive behavior — Poor impulse control, poor personal boundaries, poor anger management, stubbornness, intrusive behavior, too friendly with strangers, poor daily living skills, developmental delays
• Attention — Attention-Deficit/Hyperactivity Disorder (ADHD), poor attention or concentration, distractible
• Cognition — Mental retardation, confusion under pressure, poor abstract skills, difficulty distinguishing between fantasy and reality, slower cognitive processing
• Executive functioning — Poor judgment, Information-processing disorder, poor at perceiving patterns, poor cause and effect reasoning, inconsistent at linking words to actions, poor generalization ability
• Language — Expressive or 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 skills, poor gross motor skills, delayed motor skill development (e.g., riding a bicycle at appropriate age)
• Sensory integration and soft neurological problems — Sensory integration (SI) disorders, tactile defensiveness, under-sensitive to stimulation
• Social communication — Intrude into conversations, inability to read nonverbal or social cues, "chatty" but without substance

Secondary disabilities

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):

• Mental health problems — Diagnosed with ADHD, Clinical Depression, or other mental illness, experienced by over 90% of the subjects
• Disrupted school experience — Suspended or expelled from school or dropped out of school, experienced by 60% of the subjects (age 12 and older)
• Trouble with the law — Charged or convicted with a crime, experienced by 60% of the subjects (age 12 and older)
• Confinement — For inpatient psychiatric care, inpatient chemical dependency care, or incarcerated for a crime, experienced by about 50% of the subjects (age 12 and older)
• Inappropriate sexual behavior — Sexual advances, sexual touching, or promiscuity, experienced by about 50% of the subjects (age 12 and older)
• Alcohol and drug problems — Abuse or dependency, experienced by 35% of the subjects (age 12 and older)

Two additional secondary disabilities exist for adult patients:

• Dependent living — Group home, living with family or friends, or some sort of assisted living, experienced by 80% of the subjects (age 21 and older)
• Problems with employment — Required ongoing job training or coaching, could not keep a job, unemployed, experienced by 80% of the subjects (age 21 and older)

Protective factors and strengths

Eight factors were identified in the same study as universal protective factors that reduced the incidence rate of the secondary disabilities:

• Living in a stable and nurturant home for over 72% of life
• Being diagnosed with FAS before age six
• Never having experienced violence
• Remaining in each living situation for at least 2.8 years
• Experiencing a "good quality home" (meeting 10 or more defined qualities) from age 8 to 12 years old
• Having been found eligible for developmental disability (DD) services
• Having basic needs met for at least 13% of life
• Having a diagnosis of FAS (rather than another FASD condition)

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:

• Music, playing instruments, composing, singing, art, spelling, reading, computers, mechanics, woodworking, skilled vocations (welding, electrician, etc.), writing, poetry

Treatment

There is no specific cure for FAS as the CNS damage is irreversible leading to permanent disability. Treatment can be focused on halting the progression and behavioral therapy to improve the quality of life. Comprehensive, multi-model approaches based on the needs of the patient is considered as one of the best approach.

• Management of fetal alcohol spectrum disorders classically is divided into two main areas.
  • Pre-conceptual: Recognition of the dangers of alcohol consumption in pregnancy and the prevention of damage to the fetus.
  • Post diagnosis: Relates to the management of people who have the condition.
• The emphasis on prevention has been the most highly publicized of the two with numerous authors stressing the level of risk that is harmful, early detection of at risk mothers, the need for information sharing between professionals and public as paramount priorities.
• Emerging methods such as the use of routine screening tools such as TWEAK, hair sampling, or meconium testing have been suggested.
• However, the ethical debate around their use is in its infancy thus clarification is required before they can be recommended routinely.
• Research into protective factors during pregnancy has been inconclusive and contradictory.
• The use of vitamin E as a potential antioxidant has been shown beneficial in some studies and ineffective in others.
• Clearly, much has still to de done before conclusive information can be given to mothers contemplating pregnancy.
• For this reason we continue to emphasize the general abstinence message.

With regard to children and adults who have fetal alcohol spectrum disorders, much work has been undertaken to categorize difficulties and establish diagnoses. Less research has been undertaken relating to clinical management. This work has mainly involved children in the USA and Canada. Chudley et al.1recently reviewed the Canadian guidance on diagnosing and managing fetal alcohol spectrum disorders. They emphasize early recognition and psychometric testing combined with multidisciplinary intervention approaches.

Table 1 shows a possible timeline of groups involved in the management of fetal alcohol spectrum disorders throughout the lifespan of sufferers from a preconception to old age based on our clinical experiences working with fetal alcohol spectrum disorders in the UK. Much of what can be implemented depends on local resources and vision. Preconception prevention aspects involve government and GPs in terms of health promotion and advice; later GPs, obstetricians and others are needed during the pregnancy in addition to routine antenatal care to monitor alcohol use and to provide health advice. It is here that suspected cases can be highlighted and information passed to colleagues in order to maximize early pickup of problems. Simple, regular recording of information about alcohol consumption will facilitate this process and inform future diagnoses. Failure to do so leads to avoidable difficulties and impairments later.

Behavioral management of FASD can be summarized in the following table

Time Period
Pre-Conception	During Pregnancy	Childhood 0-18	Adult 18+
Public education Pre-conception adivce	Monitoring of pregnancy Information documentation Correspondence with colleagues	Early recognition Diagnosis Psychometric assessment Educational statement Physical investigations Behavioral management (ADHD) Prevention	Diagnosis Psychometric assessment Physical investigation if not previously undertaken Investigation of background and history from/ about birth mother if possible Education of others as to level of function Ongoing support Social Financial Educational Emplyoment Management of disabilities

Medical interventions

Traditional medical interventions (i.e., psychoactive drugs) are frequently tried on those with FAS because many FAS symptoms are mistaken for or overlap with other disorders, most notably ADHD. For instance, an FAS 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 FAS. A common course of action would be a medication referral to a pediatrician, who might recommend a trial of Ritalin for the symptoms.

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

Behavioral interventions

Traditional behavioral interventions are predicated on learning theory, which is the basis for many parenting and professional strategies and interventions. Along with ordinary parenting styles, such strategies are frequently used by default for treating those with FAS, as the diagnoses Oppositional Defiance Disorder (ODD), Conduct Disorder, Reactive Attachment Disorder (RAD), etc. often overlap with FAS (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 FAS 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 FAS. Alfie 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). While these elements are important to consider when working with FAS and have some usefulness in treatment, they are not alone sufficient to promote better outcomes. Kohn's minority challenge to behavioral interventions does illustrate the importance of factors beyond learning theory when trying to promote improved outcomes for FAS, and supports a more multi-model approach that can be found in varying degrees within the advocacy model and neurobehavioral approach.

Developmental framework

Many books and handouts on FAS recommend a developmental approach, based on developmental psychology, even though most do not specify it as such and provide little theoretical background. Optimal human development generally occurs in identifiable stages (e.g., Jean Piaget's theory of cognitive development, Erik Erikson's stages of psychosocial development, John Bowlby's attachment framework, and other developmental stage theories). FAS interferes with normal development, which may cause stages to be delayed, skipped, or immaturely developed. Over time, an unaffected child can negotiate the increasing demands of life by progressing through stages of development normally, but not so for a child with FAS.

By knowing what developmental stages and tasks children follow, treatment and interventions for FAS can be tailored to helping a patient meet developmental tasks and demands successfully. If a patient 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 patient's developmental context into account while developing interventions.

Advocacy model

The advocacy model takes the point of view that someone is needed to actively mediate between the environment and the person with FAS. Advocacy activities are conducted by an advocate (for example, a family member, friend, or case manager) and fall into three basic categories. An advocate for FAS: (1) interprets FAS and the disabilities that arise from it and explains it to the environment in which the patient operates, (2) engenders change or accommodation on behalf of the patient, and (3) assists the patient in developing and reaching attainable goals.

The advocacy model is often recommended, for example, when developing an Individualized Education Program (IEP) for the patient's progress at school.

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.

Neurobehavioral approach

The neurobehavioral approach focuses on the neurological underpinnings from which behaviors and cognitive processes arise. It is an integrative perspective that acknowledges and encourages a multi-modal array of treatment interventions that draw from all FAS 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 FAS.

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." 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.

Public health and policy

Treating FAS at the public health and public policy levels promotes FAS prevention and diversion of public resources to assist those with FAS. It is related to the advocacy model but promoted at a systems level (rather than with the individual or family), such as developing community education and supports, state or province level prevention efforts (e.g., screening for maternal alcohol use during OB/GYN or prenatal medical care visits), or national awareness programs. Several organizations and state agencies in the U.S. are dedicated to this type of intervention.

Prevention

The only certain way to prevent FAS is to simply avoid drinking alcohol during pregnancy. Some studies have shown that light to moderate drinking during pregnancy might not pose a risk to the fetus, although no amount of alcohol during pregnancy can be guaranteed to be absolutely safe. The Royal College of Obstetricians and Gynaecologists conducted a study of over 400,000 women, all of whom had consumed alcohol during pregnancy. No case of fetal alcohol syndrome occurred and no adverse effects on children were found when consumption was under 8.5 drinks per week. A review of research studies found that fetal alcohol syndrome only occurred among alcoholics; no apparent risk to the child occurred when the pregnant women consumed no more than one drink per day. A study of moderate drinking during pregnancy found no negative effects and the researchers concluded that one drink per day provides a significant margin of safety, although they did not encourage drinking during pregnancy. A study of pregnancies in eight European countries found that consuming no more than one drink per day did not appear to have any effect on fetal growth. A follow-up of children at 18 months of age found that those from women who drank during pregnancy, even two drinks per day, scored higher in several areas of development. An analysis of seven medical research studies involving over 130,000 pregnancies found that consuming two to 14 drinks per week did not increase the risk of giving birth to a child with either malformations or fetal alcohol syndrome.

In the United States, the Surgeon General recommended in 1981, and again in 2005, that women abstain from alcohol use while pregnant or while planning a pregnancy, the latter to avoid damage in the earliest stages of a pregnancy, as the woman may not be aware that she has conceived. 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.

See also

• Fetal Alcohol Spectrum Disorder
• Recommended maximum intake of alcoholic beverages
• Alex Burril's Guide to F.A.S.

Further reading

• Astley S (2004). "Fetal alcohol syndrome prevention in Washington State: evidence of success". Paediatric and Perintal Epidemiology. 18 (5): 344–51. doi:10.1111/j.1365-3016.2004.00582.x. PMID 15367321.
• Astley S, Clarren S (2001). "Measuring the facial phenotype of individuals with prenatal alcohol exposure: correlations with brain dysfunction". Alcohol and Alcoholism. 36 (2): 147–59. doi:10.1093/alcalc/36.2.147. PMID 11259212.
• Gideon Koren, Idan Roifman, Irena Nullman. Hypothetical Framework; FASD and criminality-causation or association? The limits of evidence based knowledge. Journal of FAS International volume=2, issue=6, year=2004 |http://www.motherisk.org/JFAS/econtent_commonDetail.jsp?econtent_id=59
• Grant T, Ernst C, Streissguth A (1996). "An intervention with high-risk mothers who abuse alcohol and drugs: the Seattle Advocacy Model". American Journal of Public Health. 86 (12): 1816–7. PMID 9003147.CS1 maint: Multiple names: authors list (link)
• Mattson, S.N., & Riley, E.P. (2002). Neurobehavioral and Neuroanatomical Effects of Heavy Prenatal Exposure to Alcohol, in Streissguth, A.P., & Kanter, J. (Eds.) The Challenge in Fetal Alcohol Syndrome: Overcoming Secondary Disabilities. First published in 1997. ISBN 0-295-97650-0
• Olegård R, Sabel K, Aronsson M, Sandin B, Johansson P, Carlsson C, Kyllerman M, Iversen K, Hrbek A (1979). "Effects on the child of alcohol abuse during pregnancy. Retrospective and prospective studies". Acta Paediatrica Scandinavica Suppl. 275: 112–21. doi:10.1111/j.1651-2227.1979.tb06170.x. PMID 291283.CS1 maint: Multiple names: authors list (link)
• Ratey, J.J. (2001). A User's Guide to the Brain: Perception, Attention, and the Four Theaters of the Brain. New York: Vintage Books. ISBN 0-375-70107-9.
• Ulleland CN, Wennberg RP, Igo RP, Smith NJ (1970). "The offspring of alcoholic mothers". Abstract. American Pediatric Society for Pediatric Research.

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