Sample Pages: The Motherisk Guide To Diagnosing FASD

The Motheriskguide to diagnosingFetal AlcoholSpectrum DisorderGideon Koren, MD, FRCP(C)Irena Nulman, MD

Dear colleague:Most cases of Fetal Alcohol Spectrum Disorder are presentlyundiagnosed and therefore not managed appropriately. In arecent physician survey conducted by the Motherisk programat The Hospital for Sick Children, most physicians expressed aneed to know more about diagnosing this disorder. As part ofMotherisk’s new national program to train and certify healthprofessionals in the detection and diagnosis of fetal alcoholrelated abnormalities, we are pleased to present this guidebook.This guidebook contains all the information you need to screenfor Fetal Alcohol Spectrum Disorder, commonly known as FetalAlcohol Syndrome and Fetal Alcohol Effects. We have limited thecontents to the essential information, recognizing that there aregreat demands on your time. However, we have also included areference list should you wish to further expand your knowledgeon this subject.We are grateful to The Hospital for Sick Children Foundation fortheir generous funding of this guidebook.Gideon Koren, MD, FABMT, FRCP(C)DirectorMotherisk ProgramThe Hospital for Sick ChildrenToronto CanadaIrena Nulman, MDAssociate DirectorMotherisk ProgramThe Hospital for Sick ChildrenToronto CanadaAcknowledgements: Gideon Koren is a Senior Scientist of the CanadianInstitutes for Health Research and holder of the Research Leadershipfor Better Pharmacotherapy during Pregnancy and Lactation. Theresearch presented in this book was supported by CIHR and theBrewers Association of Canada.Motherisk guide to diagnosing Fetal Alcohol Spectrum Disorderi

ContentsTerminology used in this book 1The epidemiology of Fetal Alcohol Spectrum Disorder (FASD) 2Primary and secondary disabilities associatedwith Fetal Alcohol Spectrum Disorder 3Differential diagnosis of Fetal Alcohol Spectrum Disorder 4Diagnostic criteria for fetal alcohol related abnormalities 5Clinical and neurobehavioural assessments 71. How to confirm maternal alcohol exposure 8History 8Alcohol screening questionnaire 9Maternal biological markers 10Neonatal biological markers 102. Prenatal and postnatal growth retardation 11Growth charts at birth 12Growth charts for boys 15Growth charts for girls 203. Craniofacial changesTypical qualitative craniofacial changes 25Typical quantitative craniofacial changes 26Palpebral fissure length 26Philtrum length and proportions 284. Evidence of central nervous system impairment (ARND) 32Tests available to delineate neurodevelopmentalproblems 34Cognitive and behavioural profile of children withfetal alcohol syndrome and/or atypical fetal alcoholsyndrome 36iiMotherisk guide to diagnosing Fetal Alcohol Spectrum Disorder

Alcohol-Related Birth Defects (ARBD)Cardiac 37Skeletal 37Renal 37Ocular 37Auditory 37Other 37The final step: putting it all together 38Fetal Alcohol Checklist 39References 40Recommended reading 41Appendix IMeconium testing for in utero exposure to alcohol 42Motherisk guide to diagnosing Fetal Alcohol Spectrum Disorderiii

Motherisk Fetal Alcohol ChecklistPatient name and age: ____________________________________Evidence ofmaternal drinking?Intrauterinegrowthretardation?Postnatal growthretardation?Decreased headcircumference?Short palpebralfissure (less than2 S.D. for age)?Lip philtrumfindings?(See Fig. 2.19)Increased philtrumlength? (See Figs.2.17 and 2.18)Pathologicalbehaviouralfindings?Pathologicalneurodevelopmentaltests?Other anomolies?yes no unclear detailsTable 5.2 Fetal Alcohol Checklist.Motherisk guide to diagnosing Fetal Alcohol Spectrum Disorder 39

Cover art images:Palberal fissure length (From Handbook of Normal Physical Measurments, Hall,Froster-Iskenius and Allanson, Oxford University Press, 1995. Fig. 7.43; p.148, bypermission of Oxford University Press)Photographs of Children with FASD. (From Streissguth, Clarren, Jones. NaturalHistory of The Fetal Alcohol Syndrome: A 10-year follow-up of eleven patients.The Lancet, July 13, 1985, pp 85-91, by permission of The Lancet Ltd.)Lip Philtrum Guide. (From Astley, S and Clarren S. Measuring the facial phenotypeof individuals with prenatal alcohol exposure: correlations with brain dysfunction.Alcohol and Alcoholism. 36(2); 147-59 (2001) with permission).