The Canadian Journal of CME October 2001 etal alcohol syndrome FAS - PDF document

The Canadian Journal of CME / October 2001 etal alcohol syndrome (FAS) and FAS spectrumdeficits (FASD) are the most common and com-ities and birth defects in Canada. The term FAS wasfirst used in 1973 by Jones and Smith to describe aCharacteristic facial features; andCentral nervous system involvement.The estimated incidence of FAS in Canada iscause a spectrum of deficits, with FAS being themost readily recognizable. Other conditions associ- Understanding FAS: A Practical Approach to Prevention,The primary-care physician has an important role in the effective prevention,diagnosis and management of fetal alcohol syndrome (FAS) and relatedconditions.Primary prevention strategies, systematic screening of all pregnant women and timely provision of interventions can help prevent FAS. By Margaret E.Clarke,MD,FRCPC Dr.Clarke is chief, associate professor, department ofpediatrics, University of Calgary, and division chief,developmental pediatrics and adolescent medicine,Alberta ChildrenÕs Hospital and Calgary Health Region,Calgary, Alberta. University of Calgary ated with fetal alcohol exposure have been referredto as fetal alcohol effects (FAE), partial FAS(PFAS), alcohol-related birth defects (ARBD) andalcohol-related neurodevelopmental disorder(ARND). All of these terms refer to situations whereAS. The estimated incidence of conditions withinthe FASD category is 10 cases per 1,000 live births.Despite increased public awareness of FAS and tionduring pregnancy increased from 12.4% to 16.3%between 1991 and 1995. Moreover, frequent drink-ing during pregnancy, defined as seven or moredrinks per week, increased during the same timeperiod from 0.8% to 3.5%.In the face of thisuse. Appearance, culture or socioeconomic statuscannot identify a pregnant woman who consumesoped for use during pregnancy, including CAGEut down, ye-opener drinks) and the T-ACEut down, ye-opener drinks). The T-ACE hasety of cultural groups, and its higher sensitivity andspecificity for assessment of peri-conceptual heavydrinking.

The following are additional areas thatwomen drink with their partners;Past history of sexual or physical abuse „ astudy of 80 birth mothers of children with FASrevealed 95% were physically or sexually abusedThe presence of mental health disorders. In the The Canadian Journal of CME / October 2001 SummaryFetal Alcohol SyndromeThe growth pattern characteristic of FAS likely presents in the prenatal period, and persists as aconsistent impairment over time.By contrast, growth deficiency due to postnatal influences is likely topresent as periodic fluctuations in the growth curve.Language deficits result from a global impairment in executive functioning, due to prenatal alcoholxposure.The understanding of complex language and figures of speech is markedly deficient.Reasoning and memory deficits are related to basic impairments in executive functioning of the brain andbecome more noticeable when the FAS-affected person reaches school age.Management in the primary-care setting begins with screening for the key manifestations of FAS andASD disorders, and facilitating an early and accurate diagnosis by a multidisciplinary team that canaddress primary and secondary disabilities.AS is 100% preventable through consistent application of primary prevention strategies, systematicscreening of all pregnant women and timely provision of interventions.he facial features that are most closely associated with FAS are short palpebral fissures, a thin upper lipand a smooth philtrum.The facial features of FASbecome less noticeable in adolescence and adulthood.Prenatal alcohol exposure causes global impairment in cognitive abilities related to executive functioning,and specific speech and language deficits.The understanding of complex language and figures of speechis markedly deficient. same study of 80 birth mothers, 96% had one to10 mental health disorders, the most prevalentSocial isolation and lack of social support.alcohol abuse and the other risk factors identifiedabove. In most provinces, there is no waiting

periodfor pregnant women in need of addictions treatment.case-management approach can help 60% to 80% ofthe third trimester, and 35% to 50% will stop heavyOnce a diagnosis of FAS is made, intensive casemanagement must be offered that addresses thefamily to prevent future children from being affect-ed. The risk of recurrence of FAS in families withone affected child is 771 per 1,000 live births.facilitates access to resources has been shown to beeffective in maintaining abstinence and promotingcontraceptive use in high-risk women.grams are now running in many major centers inCanada (See the FAS/FAE Information Service:Canadian Centre for Substance Abuse Web site:www.ccsa.ca/fasgen.htmAlcohol-related effects: ARBD and ARND.When a pregnant woman consumes alcohol, shedoes not drink alone. Alcohol is a known terato-gen, causing a spectrum of damage that disruptsfetal development in all three trimesters. Alcoholand its metabolites interfere with DNAsynthesis,opment. Exposure in the first trimester affectsorgan development and craniofacial development.Structural brain abnormalities are most common,followed by cardiac abnormalities, especially sep-The whole range of ARBDs is pre-sented in Table 1.trimester has a more severe effect on birth weight.microcephaly, agenesis of the corpus callo-sum or cerebellar hypoplasia) or functional deficitsaffecting behavior and cognition (Table 1).AS diagnostic categoriesalcohol exposure Researchers and clinicians have struggled to findconsistent terminology to describe the spectrum ofeffects and the individual criteria that should bewhich are summarized in Table 2.10,11AS without confirmed alcohol exposure used to describe children who have the growth,facial and central nervous system (CNS) charac-teristics of FAS, but there is no way to accuratelyverify the mothers use of alcohol.partial FAStics of FAS. Partial does not mean the condition isless severe than full FAS. Many patients diag-nosed as having partial FAS would have been des-ignated as having FAE under pr

evious diagnosticsystems. The use of the term FAE has been dis-couraged by its originator, Dr. Sterling Clarren,since it is non-specific and encompasses a broadcommon misconception is that FAEis a less severe form of FAS. Although the patientdesignated as having FAE may not have all of thephysical abnormalities of FAS, the cognitive and The Canadian Journal of CME / October 2001 behavioral impairments and, therefore, life-longdisabilities, are similar in severity.Disabilities of FAS: The growth pattern characteristic of FAS likelypresents in the prenatal period, and persists as aconsistent impairment over time. By contrast,curve. Patients with severe growth impairmentsThose with moderate impairment fall between thethird and tenth percentile. The most consistent fea-tures in the FAS facial phenotype include smallhave now been established by Astley and Clarren,manual and CD-ROM have been devel-oped to provide clinicians with specific informa- The Canadian Journal of CME / October 2001 TabDiagnostic Criteria for Alcohol-Related Effects1.Alcohol-related birth defectsCardiacAtrial septal defects, ventricular septal defects, aberrant great vessels, tetralogy of Fallot.Hypoplastic nails, shortened fifth digits, radioulnar synostosis, joint contractures, camptodactyly,clinodactyly, pectus excavatum and carinatum, Klippel-Feil syndrome, hemivertebrae, scoliosis.Aplastic, dysplastic, hypoplastic kidneys, horseshoe kidneys, ureteral duplications, hydronephrosis.Strabismus, refractive problems secondary to small globes, retinal vascular anomalies.uditoryConductive hearing loss, neurosensory hearing loss.Virtually every malformation has been described in some patient with FAS.The etiologic specificity of mostof these anomalies to alcohol teratogenesis remains uncertain.2.Alcohol related neurodevelopmental disorderA.Evidence of CNS abnormalities in at least one of the following:Decreased cranial size at birth Structural brain abnormalities (microcephaly, cerebellar hypoplasia)Neurological hard or soft s

igns (as age appropriate), such as impaired fine motor skills, neurosensory hearing loss, poor tandem gait, poor eye-hand coordinationEvidence of a complex pattern of behavior or cognitive abnormalities that are inconsistent with developmental level and cannot be explained by familial background or environment alone, such as learning difficulties, deficits in school performance, poor impulse control, problems in social perception, deficits in higher level receptive and expressive language, poor capacity for abstraction or metacognition, specific deficits in mathematical skills;or problems in memory, attention, or judgment.Adapted from Stratton K, How C, Battaglia:AS Diagnosis, Epidemiology, Prevention and Treatment, Washington, D.C.NationalAcademy Press, 1996 Fetal Alcohol Syndrome The Canadian Journal of CME / October 2001 TabDiagnostic Criteria for FAS1.FAS with confirmed maternal alcohol exposureConfirmed maternal alcohol exposure.Evidence of characteristic pattern of facial anomalies including short palpebral fissures and abnormalities in thepremaxillary zone (flat upper lip, flattened philtrum, and flat midface).Evidence of growth retardation in at least one of the following:birth weight for gestational ageDecelerating weight over time not due to other identified causesDisproportional low weight to heightEvidence of CNS abnormalities in at least one of the following:Decreased cranial size at birth Structural brain abnormalities (microcephaly, cerebellar hypoplasia)Neurological hard or soft signs (as age appropriate), such as impaired fine motor skills, neurosensory hearing loss, poor tandem gait, poor hand-eye coordination2.FAS without confirmed maternal alcohol exposureand D above3.Partial FAS with confirmed maternal alcohol exposureConfirmed maternal alcohol exposure.Evidence of some components of the pattern of characteristic facial anomalies either C or D or E below.Evidence of growth retardation, in at least one of the following:birth weight for gestational ageDecelerating weight

over time not due to nutritionDisproportional low weight to heightEvidence of CNS abnormalities in at least one of the following:Decreased cranial size at birthStructural brain abnormalities (microcephaly, cerebellar hypoplasia)Neurological hard or soft signs (as age appropriate), such as impaired fine motor skills, neurosensory hearing loss, poor tandem gait, poor hand-eye coordination.Evidence of a complex pattern of behavior or cognitive abnormalities that areinconsistent with developmental level and cannot be explained by familial background or environment alone, such as learning difficulties, deficitsin school performance, poor impulse control, problems in social perception, deficits in higher level receptive and expressive language, poor capacity for abstraction or metacognition, specific deficits inmathematical skills, or problems in memory, attention, or judgment.A pattern of excessive intake characterized by substantial, regular intake or heavy episodic drinking.Evidenceof this pattern may include frequent episodes of intoxication, development of tolerance or withdrawal, social problems related to drinking, legal problems related to drinking, engaging in physically hazardous behavior while drinking, or alcohol related medical problems, such as hepatic disease.Adapted from Stratton K, How C, Battaglia:AS Diagnosis, Epidemiology, Prevention and Treatment, Washington, D.C.NationalAcademy Press, 1996 and Jones KL, Smith DW:Recognition of the fetal alcohol syndrome in early infancy.Lancet 1973;2(7836):999-1001. This cluster of minor facial abnormalities is veryspecific to alcohol exposure on Day 20 post-con-Several practice points emerge from this finding:The likelihood of an FAS diagnosis is greatestwhen the three features of small palpebral fis-sures, smooth philtrum and thin upper lip, areThe more severe the facial manifestations, thestructural CNS defects; andIf there are no facial features, but there is adefinitive history of prenatal alcohol exposure,Figure 1 shows the major and asso

ciated fea-tures of FAS. Other conditions that have similarfacial characteristics include Fragile X Syndrome,Figure 2 shows a graphic representation of thebrain manifestations of prenatal alcohol exposure.This photograph has been used widely in FAS pub-lic awareness campaigns, and compares the brainof a child who died at birth due to severe FAS toon a continuum from subtle neurobehavioraldeficits to obvious structural abnormalities. Theprimary functional brain disabilities of FAS can beorganized according to a mnemonic ALARM.Žpatients chronological age. Less than 10% of adultswith FAS live independently, due to their impair-Language deficits result from a global impair-alcohol exposure. The understanding of complexlanguage and figures of speech is markedly defi-cient. The use of language, therefore, as a social orbehavioral mediator, is poor and further compro-mises the adaptive functioning of the FAS-affectedindividual. Traditional tests of language often donot detect the deficits seen in FAS. As a result, aThe majority of children with FASD have atten-tional difficulties and would fulfill diagnostic crite-ria for ADHD. However, the pattern of attentiondeficit is different in FASD in the following ways:ASD conditions have more complex co-mor-bidities than are typically seen with ADHD,early onset of sexually impulsive behavior; andany children with FAS respond poorly tobrain and become more noticeable when the FAS-affected person reaches school age. Patients withAS are often slow to learn new skills and do notlearn from past experiences. Problems are also seenin visual spatial memory. Patients with FAS areoften slow to learn new skills, do not learn fromily. Intelligence quotient (IQ) testing will not detectreasoning and memory deficits seen in FAS. More The Canadian Journal of CME / October 2001 Each component of the presentation of FAS canrange in severity, according to the patients age andponent of the diagnosis. It is, therefore, easy to seewhy no two individuals with FAS will presen

t withities. In response to these limitations,new diagnostic system wheregrowth, facial phenotype, CNS dys-The Four-Digit Diagnosticranked independently on a four-ing complete absence of FAS fea-presence of FAS features. ManyUS are now using this approach.The secondary disabilities of FASarise after birth as a result of theily and society. The estimated costper case of FAS is between $2.5ental health disorders „ depres-are most common;rouble with the law; The Canadian Journal of CME / October 2001 Figure 2.This photograph has been used widely in FAS public awarenesscampaigns, and compares the brain of a child who died at birth due tosevere FAS to that of a healthy newborn. Figure 1.Facial characteristics of FAS.Facies in Fetal Alcohol Syndrome Short palpebralDiscriminating Flat mid-faceShort noseIndistinct philtrum Epicanthal foldsLow nasal brigdeIn the Young Child AS usually occurs within a constellation of co-ttachment disorders due to multiple care-Early diagnosis, preferably before age six;Appropriate interventions for primary and sec-€ Placement in a stable and nurturing environmentthat is non-abusive.physical and developmental manifestations acrossa patients lifespan. Amultidisciplinary teamapproach is recognized as a best practice standarddiagnosis of FAS:Facial features, such as the smooth philtrum The Canadian Journal of CME / October 2001 Figure 3.Primary and secondary FAS multidisciplinary diagnostic teams. Secondary Team Psychiatryamily supportsAlcohol Treatment TherapistsPhysiotherapistsPrimary Team PhysicianAdvocateWorkerPublic Health The Canadian Journal of CME / October 2001Facial features and growth delay diminish inyears), key features include delayed develop-rom ages six to 11, significant difficultiesbehavior difficulties and problems with socialorders and involvement with the justice sys-Management in the primary-care setting beginswith screening for the key manifestations of FASand FASD disorders, and facilitating an early andcan address primary and secondary disabil

ities. Itis important to recall that FAS is a diagnosis fortwo „ when a child is diagnosed with FAS, theparents should be identified and supported, sofuture pregnancies are not alcohol-affected.Support to caregivers and educators throughthe provision of resources and informationRoutine screening of patients with FAS anddentify advocates for the affected individualwho can act as an external brainŽ (tector or custodian);If medications are necessary, provide closefollow-up, monitor for side effects and beginat a lower starting dose; andRegular surveillance for onset of secondaryIn summary, the primary-care physician hasan integral role in the effective prevention, diag-nosis and management of FAS and related con-ditions. FAS is 100% preventable through con-sistent application of primary prevention strate-gies, systematic screening of all pregnant Note: Suggested additional reading is noted with an asterix (*).1.Jones KL, Smith DW: Recognition of the fetal alcoholsyndrome in early infancy. Lancet 1973; 2(7836): 999-2.Alberta Medical Association: Alberta Clinical Practicealcohol syndrome (FAS) Alberta Partnership on FetalAlcohol Syndrome. The Alberta Clinical PracticeGuidelines Program; June 1999.*3.May P: Amultiple-level, comprehensive approach to theprevention of fetal alcohol syndrome (FAS) and otheralcohol related birth defects (ARBD). The InternationalJournal of Addictions 1995; 30(12): 1549-602.4.Olson HC, Feldman JJ, Steissguth AP, et al: Clinical neu-syndrome: Clinical findings. Alcohol Clin Exp Res 1998;5.Alberta Medical Association: Alberta Clinical PracticeRecommendations on prevention of fetal alco-hol syndrome (FAS) Alberta Partnership on Fetal AlcoholSyndrome. The Alberta Clinical Practice Guidelines6.Ebrahim S, Floyd R, Bennet E: Alcohol consumption by 7.Astley SJ, Bailey D, Talbot C, et al: Fetal alcohol syndrome(FAS) primary prevention through FAS diagnosis: I. Acom-prehensive profile of 80 birth mothers of children with FAS.Alcohol Alcoholism 2000; 35: 509-12.*8.Astley SJ, Ba

iley D, Talbot C, et al: Fetal alcohol syndrome(FAS) primary prevention through FAS diagnosis: II.Identification of high-risk mothers through the diagnosis ofthe children. Alcohol Alcoholism 2000; 35: 499-509.*9.Streissguth AP. Fetal alcohol syndrome: Aguide for familiesAlberta Medical Association: Alberta Clinical Practicedrome (FAS) Alberta Partnership on Fetal AlcoholSyndrome.The Alberta Clinical Practice GuidelinesAlcohol Syndrome: Diagnosis,Epidemiology, Prevention andNational Academy Press,12.Aaase JM, Jones KL, Clarren SK: Dowe need the term FAEŽ? Pediatrics13.Astley SJ, Clarren SK: Diagnosing4-digit diagnostic code. AlcoholGuide for FAS and RelatedConditions: The 4-Digit Diagnostic. University of Washington,15.Fetal Alcohol Syndrome Tutor: Medical Training Software.sis of fetal alcohol syndrome. FAS Diagnostic andPrevention Network, Department of Laboratory Medicine,and the Office of Continuing Medical Education, Universityof Washington, Seattle, WA, 1999.*16.Loock, Christine: Personal communication, 2001.17.Coggins TE, Friet T, Morgan T: Analysing narrative pro-fetal alcohol syndrome: An experimental tool for clinical18.Graefe S: The Society of Special Needs Adoptive ParentsAS: Parenting Children Affected by Fetal AlcoholSyndrome: AGuide for Daily Living, SNAP, Vancouver,19.FAS/FAE Technical Working Group: It Takes a CommunityFramework for the First Nations and Inuit Fetal AlcoholSyndrome and Fetal Alcohol Effects Initiative, HealthAlberta Medical Association: Clinical Practicewww.albertadoctors.orgwww.arbi.org/index.htmlBC FAS Resource Society: Community ActionGuide for the Prevention of FAS and AlaymansGuide to FAS www.mcf.gov.bc.ca/child_protec-BC Ministry of Education: Teaching Childrenwith FASwww.bced.gov.bc.ca/specialed/fas/contents.htmAS/FAE Information Service: Canadian Centreon Substance Abusewww.ccsa.ca/fasgen.htmHealth Canadawww.healthcanada.ca/fasSeattle University of Washington FAS Diagnosticand Prevention Web site The Canadian Journal of CME / October 2001 For