3 What is Fetal Alcohol Syndrome? Pattern of anomalies that have resulted due to prenatal exposure to alcoholFacial anomaliesGrowth retardationCentral nervous system dysfunctionRecognised as being at the higher end on a continuum of disorders which can be attributed to prenatal alcohol exposure.
5 Fetal Alcohol Spectrum Disorders (FASD) is an umbrella term describing the range of effects that can occur in an individual whose mother drank alcohol during pregnancy. These effects may include physical, mental, behavioural, and/or learning disabilities with possible lifelong implications. The term FASD is not intended for use as a clinicaldiagnosis. (Bertrand et al., 2004, pp. 4)
6 How would someone with FASD present? Small size for age (especially as an infant)Facial abnormalities such as small eye openingsPoor coordinationPoor suck and sleep disturbances in infancyHyperactive behaviourLearning disabilitiesDevelopmental disabilities (e.g. speech and language delays)
7 Characteristics of FASD Con’t… Mental retardation or low IQPoor reasoning and judgment skillsInconsistent or spotty memoryPoor abstract thinkingImpulsive and difficulty learning from mistakesTemper tantrum and difficulty with self control (not appropriate for age)
8 How is a diagnosis of FAS reached? PatientGeneral PractitionerPaediatricianPsychologistSocial WorkerPsychiatristNeurologistMultidisciplinary Team Approach
9 Framework for FAS Diagnosis and Services Child presents for office visit – Triggers EmergeComplete initial evaluation to gather data related to FASFAS Criteria NOT met – Continue to monitor changes in health over time.FAS Criteria Met - Refer to Specialist for further assessmentIntervention plan is developedFAS Diagnosis confirmed.Intervention Plan is communicated to frontline providersSource: Bertrand. J., Floyd, R.L., Weber, M.K., O'Connor, M., Riley, E.P., Johnson, K.A., Cohen, D.E., National Task Force on FAS/FAE. Fetal alcohol syndrome: Guidelines for referral and diagnosis. Atlanta, GA: Centers for Disease Control and Prevention; 2004, p.8.
10 Diagnostic Schemas 4-digit code / University of Washington National Task Force / The Centre for Disease Control and Prevention (CDC)Canadian GuidelinesRevised Institute of Medicine (IOM)
11 All four schemas look to the three distinct areas Prenatal and/or postnatal growth deficiencyCentral nervous system dysfunctionCharacteristic pattern of facial anomalies (differ on how many need to be present)Photo by Sterling Clarren, MD
12 Diagnostic Guide for Fetal Alcohol Spectrum Disorders: The 4-Digit Diagnostic Code (2004) Allows for a full assessment to be undertaken by a multi-disciplinary team of professionalsThe 4-Digit code of 4444 indicates a diagnosis of FAS, at the most extreme end of the FASD.Code of 1111 would indicate:normal development,no signs of facial deformities,no CNS concerns andno prenatal exposure to alcohol.This therefore allows for 256 Diagnostic Codes which can be logically grouped in 22 Diagnostic Categories
13 PhysicianSections pertaining to growth, structural & neurological measures of the CNS, facial features and other physical findings.Occupational Therapist, Psychologist, speech language pathologist and/or other team members complete sections pertaining to psychometric measures of CNS function.All members participate in the derivation of the 4-Digit Code and intervention plan.
14 Lets start at the beginning… While there is NO safe time to consume alcohol while pregnant this figure shows the critical periods of fetal development.Red shows the period when major structural abnormalities occur and the yellow shows functional deficits and minor structural abnormalities.- Russell Family Fetal Alcohol Disorders Association
15 Presenting symptoms of FAS Documentation of all three facial abnormalitiesSmooth philtrumThin vermillionSmall palpebral fissuresDocumentation of growth deficitsDocumentation of Central Nervous System (CNS) abnormalityAs mentioned before FAS is seen to be at the higher end of the FASD continuum and to receive a diagnosis of FAS the following must be present..Smooth philtrum – no groove between the upper lip and nose.Thin vermillion – thin upper lipSmall palpebral fissures – small eye openingPre or postnatal weight or height at or below the 10th percentileChildren with neurodevelopmental disorders don't learn from their mistakes and they don't understand cause and consequence and they can't be disciplined in the normal way.- Photograph
16 Facial Dysmorphia Based on racial norms Must exhibit all three characteristic facial features
17 Thin vermillion border Smooth philtrumThin vermillion border(University of Washington Lip-Philtrum Guide rank 4 or 5)No groove between the lip and the nose
18 Photo reprinted with permission from Susan Astley, University of Washington: www.fasdpn.org
19 Small palpebral fissures – at or below 10th percentile Photo reprinted with permission from Susan Astley, University of Washington:
20 Specific measurement tools and instructions are used to guide correct diagnosis
21 Growth Documentation of growth deficits: Confirmed prenatal or postnatal height or weight, or both, at or below the 10th percentile, documented at any one point in time (adjusted for age, sex, gestational age, and race or ethnicity).Australasian Paediatric Endocrine GroupAustralian and New Zealand Growth ChartsUS Growth Charts (Centre for Disease Control)The WHO Child Growth Standards
22 Central Nervous System Central Nervous SystemStructuralHead circumference at or below the 10th percentile adjusted for age and sexClinically significant brain abnormalities observable through imaging.NeurologicalNeurological problems not due to a postnatal insult or fever, or other soft neurological signs outside normal limits.FunctionalGlobal cognitive or intellectual deficits representing multiple domains of deficit (or significant developmental delay in younger children) – performance below the 3rd percentileFunctional deficits below the 16th percentile (in at least three domains)See below for a table to assist with identifying Functional CNS deficits.Source: Adapted from Bertrand,J., Floyd, R. L., Weber, M. K., O'Connor, M., Riley, E. P.,Johnson, K. A., Cohen, D. E., & National Task Force on FAS/FAE. Fetal alcohol syndrome: Guideiines for referral and diagnosis. Atlanta, GA: Centers for Disease Control and Prevention;2004.
25 ComorbidityTo increase the difficulty in achieving a correct diagnosis, a number of disorders are often comorbid with FAS.AutismConduct Disorder (CD)Oppositional Defiant Disorder (ODD)Anxiety DisordersAdjustment DisordersSleep DisordersDepression
26 Face & Emotion Processing Retrieval Daily Living Skills Set ShiftingVerbal FluencyBasic Motor ControlIQProblem SolvingComplex Motor SkillsFocused AttentionStatic BalanceFASDADHDShifting AttentionSocial SkillsSustained AttentionVerbal EncodingCommunication SkillsFace & Emotion ProcessingRetrievalDaily Living SkillsParent reports of behaviourMattson, Crocker & Nguyen, 2011
27 Fetal Alcohol Syndrome Summary 100% Preventable0% Curable BUT with early diagnosis and appropriate intervention individuals with FAS do have the potential to do well.Major Public Health Concern –vs- Moral Panic?0.2 to 1.5 cases of FAS occur every 1,000 live births in USA.If FAS and ARND were added together – 9.1 cases for every 1,000 live births in USA. That would be nearly 1 in 100.ARND – Alcohol Related Neurodevelopmental DisorderA biomarker is a term used to describe a test such as blood, urine or faeces to identify the severity or presence of a disease.
28 There is no biomarker for the diagnosis of Fetal Alcohol Syndrome. Summary Con’t….There is no biomarker for the diagnosis of Fetal Alcohol Syndrome.The effects of FAS may include physical, behavioural and/or learning difficulties.Comorbidity with a number of other disorders can complicate diagnosis.To ensure accurate diagnosis a Multidisciplinary Team approach is best.
29 ReferencesArmstrong, E. M., & Abel, E. L. (2000). Fetal alcohol syndrome: The origins of a moral panic. Alcohol & Alcoholism, 35(3), pp Astley, S. J. P. D. (2004). Diagnostic Guide for Fetal Alcohol Spectrum Disorders: The four digit diagnostic code (Third ed., pp. 123). Seattle, WA: University of Washington. Bertrand, J., Floyd, R. L., Weber, M. K., O'Connor, M., Riley, E. P., Johnson, K. A., & Cohen, D. E. (2004). Fetal Alcohol Syndrome: Guidelines for referral and diagnosis. 62. Retrieved from Competency-Based Curriculum Development Guide for Medical and Allied Health Education and Practice. (pp. 274). Washington, DC: U.S. Government Printing Office. Mattson, S. N., Crocker, N., & Nguyen, T. T. (2011). Fetal Alcohol Spectrum Disorders: Neuropsychological and Behavioural Features. [Review]. Neuropsychology Review, 21, doi: /s O'Connor, M. J., & Paley, B. (2009). Psychiatric conditions associated with prenatal alcohol exposure. Developmental Disabilities Research Review, 15(3), 10. Paley, B., & O’Connor, M. J. (2011). Behavioral interventions for children and adolescents with fetal alcohol spectrum disorders. Alcohol Research & Health, 34(1),
30 Riley, E. P. , Infante, M. A. , & Warren, K. R. (2011) Riley, E. P., Infante, M. A., & Warren, K. R. (2011). Fetal Alcohol Spectrum Disorders: An overview. [Overview]. Neuropsychology Review, 21, doi: /s x Stratton, K., Howe, C., & Battaglia, F. C. (1996). Fetal Alcohol Syndrome: Diagnosis, epidemiology, prevention, and treatment (pp. 230). Retrieved from Telethon Institute for Child Health Research. (). Alcohol Pregnancy & FASD. Retrieved from t/fetal-alcohol-spectrum-disorders-(fasd).aspx
31 Helpful Links http://dcanoy.wix.com/fas-disorders Diagnostic Guide for Fetal Alcohol Spectrum Disorders: The 4-Digit Diagnostic Codedepts.washington.edu/fasdpn/pdfs/guide2004.pdfBrief outline of Diagnostic CriteriaAustralasian Paediatric Endocrine Group
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