Updated Clinical Guidelines for Diagnosing Fetal Alcohol ...

1 Updated Clinical Guidelines for Diagnosing Fetal Alcohol spectrum disorders H. Eugene Hoyme, MD,a,b Wendy O. Kalberg, MA, LED,c Amy J. Elliott, PhD,a Jason Blankenship, PhD,c, . David Buckley, MA,c Anna-Susan Marais, B Cur Nursing,d Melanie A. Manning, MD,e Luther K. Robinson, MD,f Margaret P. Adam, MD,g Omar Abdul-Rahman, MD,h Tamison Jewett, MD,i Claire D. Coles, PhD, j Christina Chambers, PhD, MPH,k Kenneth L. Jones, MD,k Colleen M. Adnams, MBChB,l Prachi E. Shah, MD,m Edward P. Riley, PhD,n Michael E. Charness, MD,o Kenneth R. Warren, PhD,p Philip A. May, PhDa,c,q The adverse effects of prenatal Alcohol exposure constitute a continuum of abstract disabilities ( Fetal Alcohol spectrum disorders [FASD]). In 1996, the Institute NIH. of Medicine established diagnostic categories delineating the spectrum but not specifying Clinical criteria by which diagnoses could be assigned. In 2005, the authors published practical Guidelines operationalizing the Disclaimer: The Guidelines /recommendations in this article are not American Academy of Institute of Medicine categories, allowing for standardization of FASD Pediatrics policy, and publication herein does diagnoses in Clinical settings.

2 The purpose of the current report is to present not imply endorsement. Updated diagnostic Guidelines based on a thorough review of the literature aSanford Research and Department of Pediatrics, Sanford and the authors' combined expertise based on the evaluation of >10 000 School of Medicine, University of South Dakota, Sioux Falls, children for potential FASD in Clinical settings and in epidemiologic studies South Dakota; bCenter for Applied Genetics and Genomic in conjunction with National Institute on Alcohol Abuse and Alcoholism Medicine and Department of Pediatrics, University of Arizona College of Medicine, Tucson, Arizona; cCenter on Alcoholism, funded studies, the Collaborative Initiative on Fetal Alcohol spectrum Substance Abuse and Addictions, University of New disorders , and the Collaboration on FASD Prevalence. The Guidelines Mexico, Albuquerque, New Mexico; dStellenbosch University Faculty of Medicine and Health Sciences, Stellenbosch, were formulated through conference calls and meetings held at National South Africa; Departments of ePathology and Pediatrics, Institute on Alcohol Abuse and Alcoholism offices in Rockville, MD.

3 Specific Stanford University School of Medicine, Stanford, California;. fDepartment of Pediatrics, State University of New York areas addressed include the following: precise definition of documented at Buffalo School of Medicine and Biomedical Sciences, prenatal Alcohol exposure; neurobehavioral criteria for diagnosis of Fetal Buffalo, New York; gDepartment of Pediatrics, University of Washington School of Medicine, Seattle, Washington;. Alcohol syndrome, partial Fetal Alcohol syndrome, and Alcohol -related hDepartment of Pediatrics, University of Mississippi School neurodevelopmental disorder; revised diagnostic criteria for Alcohol - of Medicine, Jackson, Mississippi; iDepartment of Pediatrics, related birth defects; an Updated comprehensive research dysmorphology Wake Forest University School of Medicine, Winston- Salem, North Carolina; jDepartment of Psychiatry and scoring system; and a new lip/philtrum guide for the white population, Behavioral Sciences, Emory University School of Medicine, incorporating a 45-degree view.

4 The Guidelines reflect consensus among Atlanta, Georgia; kDepartment of Pediatrics, University of California, San Diego School of Medicine, La Jolla, California;. a large and experienced cadre of FASD investigators in the fields of lDepartment of Psychiatry and Mental Health, University of dysmorphology, epidemiology, neurology, psychology, developmental/ Cape Town Faculty of Health Sciences, Cape Town, South Africa; mDepartment of Pediatrics and Communicable behavioral pediatrics, and educational diagnostics. Their improved clarity Diseases, University of Michigan Medical School, Ann Arbor, and specificity will guide clinicians in accurate diagnosis of infants and Michigan; nDepartment of Psychology, San Diego State University, San Diego, California; oVA Boston Healthcare children prenatally exposed to Alcohol . System, Department of Neurology, Harvard Medical School, and Department of Neurology, Boston University School of Medicine, Boston, Massachusetts; pNational Institute on Alcohol Abuse and Alcoholism, Bethesda, Maryland; and The adverse effects of Alcohol on Fetal Alcohol syndrome (FAS).

5 2 As qDepartment of Nutrition, Gillings School of Global Public the developing fetus were described pediatricians became more familiar Health, Nutrition Research Institute, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina independently by Lemoine et al in with the Clinical presentation of children 19681 and by Jones et al in As prenatally exposed to Alcohol , it became with most malformation syndromes, clear that the associated disabilities To cite: Hoyme HE, Kalberg WO, Elliott AJ, et al. the most severely affected children represent a spectrum , from mild to Updated Clinical Guidelines for Diagnosing Fetal Alcohol spectrum disorders . Pediatrics. 2016 ;. were described first, with the associated severe ( Fetal Alcohol spectrum disorders 138(2):e20154256. pattern of malformation termed or FASD). In 1996, the Institute of Downloaded from by guest on November 24, 2018. PEDIATRICS Volume 138, number 2, August 2016 :e20154256 SPECIAL ARTICLE. Medicine (IOM) described 4 distinct disabilities in the world.

6 Recent meetings at the offices of NIAAA. diagnostic categories within FASD: FAS, school-based studies in the United in Rockville, MD. The following partial Fetal Alcohol syndrome (PFAS), States estimate the prevalence working subgroups of investigators Alcohol -related neurodevelopmental of FASD to be much higher than were organized to revisit diagnostic disorder (ARND), and Alcohol -related previously thought. May et al13 criteria: dysmorphology evaluation, birth defects (ARBD).3 However, the recently recorded combined rates neurobehavioral assessment, and task force did not specify the Clinical of FAS and PFAS of to definition of significant documented process by which individual children per 1000 ( ) in a Rocky prenatal Alcohol exposure. could be assigned to the groups. Since Mountain community, whereas Recommendations from the working that time, a number of diagnostic the complete continuum of FASD committees were brought back to systems have been 10 In (including ARND) was observed to be the larger group for discussion and 2005, Hoyme et al4 described specific 24 to 48 per 1000 ( ) in a revision.

7 The Guidelines presented Clinical Guidelines that allowed for community in the Northern herein are the result of a thorough assigning diagnoses within the 1996 In the mixed race population of the review of the literature and the IOM classification. Western Cape Province in South longstanding collective expertise Subsequently, the authors have Africa, the highest prevalence rates of the authors. The Updated Clinical evaluated >10 000 children for of FASD in the world have been Guidelines for diagnosis of FASD are potential FASD in Clinical settings documented, to per 1000 set forth in Table 1. and epidemiologic studies as part of ( ).15 The World Health National Institute on Alcohol Abuse Organization (WHO) is currently APPLICATION OF THE Guidelines IN. and Alcoholism (NIAAA) supported planning prevalence studies in THE DIAGNOSIS OF FASD. studies, the Collaborative Initiative several countries in Europe, Asia, Africa, and North America, which An FASD diagnostic algorithm on Fetal Alcohol spectrum disorders should lead to global data about incorporating the Updated diagnostic (CIFASD), and the Collaboration on the frequency of this continuum of Guidelines is depicted in Fig 1.

8 FASD Prevalence (CoFASP). CIFASD. was established by NIAAA in 2003 to investigate data-driven methods for The high prevalence of FASD Optimal Diagnostic Setting and the complete diagnosis of the continuum produces an immense burden to Role of the Pediatrician of FASD, prevention of the adverse society in financial terms, unrealized Assignment of an FASD diagnosis effects of prenatal Alcohol exposure, productivity, and human suffering. is a complex medical diagnostic and effective interventions for In the United States, annual cost process best accomplished through affected ,12 CoFASP estimates have ranged from $ a structured multidisciplinary seeks to establish the prevalence of million in 198417 to $ billion in approach by a Clinical team FASD among school-age children In 2007, the estimated annual comprising members with varied in US communities by using active cost of FASD in Canada was CAD $ but complementary experience, case ascertainment qualifications, and skills.

9 The Based on this broad multidisciplinary The soaring prevalence and burden assessment of individuals prenatally experience, the purpose of this of FASD in children recently led the exposed to Alcohol requires a medical special article is to propose Updated American Academy of Pediatrics to assessment and team leadership by Clinical Guidelines for Diagnosing stress the following: no amount of a pediatrician or Clinical geneticist/. FASD that clarify and expand on Alcohol intake during pregnancy can dysmorphologist with expertise in the original 2005 Guidelines . These be considered safe; there is no safe the full range of human malformation Updated diagnostic criteria have been trimester to drink Alcohol ; all forms syndromes and the dysmorphology formulated, reviewed, and accepted of Alcohol pose a similar risk; and evaluation of children with FASD. by the investigators and collaborating binge drinking poses a dose-related In addition, exposed children sites of CoFASP and the administrative risk to the should have expert psychological/.

10 Core of CIFASD. They do not neuropsychological assessment, necessarily represent the policy of the and a skilled interviewer should American Academy of Pediatrics. PREPARATION OF Updated . evaluate prenatal maternal Alcohol DIAGNOSTIC Guidelines . intake. Other team members may BACKGROUND AND SCOPE OF THE These Guidelines were formulated include developmental behavioral PROBLEM by the authors over a 12-month pediatricians, psychiatrists, speech FASDs are the leading cause period, through a series of pathologists, occupational therapists, of preventable developmental conference calls and face-to-face physical therapists, special Downloaded from by guest on November 24, 2018. 2 HOYME et al TABLE 1 Updated Criteria for the Diagnosis of FASD. Diagnostic Categories (See Table 2 for de nition of documented prenatal Alcohol exposure). I. FAS. (With or without documented prenatal Alcohol exposure). A diagnosis of FAS requires all features, A D: A. A characteristic pattern of minor facial anomalies, including 2 of the following: 1.