Fetal alcohol spectrum disorder: Diagnostic update

Much progress has been made since the Canadian Paediatric Society's position paper on fetal alcohol syndrome (FAS) was first published in 2002 (www.cps.ca/english/statements/II/ii02-01.htm) (1). Fetal alcohol spectrum disorder (FASD), which includes FAS, is the result of prenatal exposure to alcohol. FASD is not a diagnostic term itself, but is the umbrella term that encompasses the spectrum of diagnoses due to alcohol exposure in utero. FASD presents with a wide range of physical, cognitive and neurodevelopmental disabilities. The cost to the individual and society is significant, especially in the First Nations, Inuit and Métis populations. The exact prevalence of FASD in Canada is unknown. However, a recent estimate of the prevalence of FASD was reported to be 9.1 per 1000 live births (2,3). Formal diagnostic approaches include those described by the Institute of Medicine (4) and the 4-Digit Diagnostic Code from the University of Washington FAS Diagnostic and Prevention Network (5). In Canada, new diagnostic guidelines were published in 2005 after an expert subcommittee of the Public Health Agency reviewed available diagnostic approaches. These guidelines have become the standard for FASD diagnosis in Canada (6). FASD includes the following: FAS: Patients with FAS have confirmed alcohol exposure in utero (may be unconfirmed in cases of adoption or foster care), full expression of FASD with facial dysmorphology, growth deficiency, and evidence of impairment in three or more central nervous system (CNS) domains (including hard and soft neurological signs, structure, cognition, memory, communication, attention and executive functioning). Partial FAS: Patients with partial FAS have confirmed alcohol exposure in utero, partial facial features and evidence of impairment in three or more of the CNS domains. Alcohol-related neurodevelopmental disorder: Patients with an alcohol-related neurodevelopmental disorder have confirmed alcohol exposure in utero, no evidence of growth deficiency or dysmorphic facial features, and impairment in three or more of the CNS domains. Neurodevelopmental deficits are not specific to FASD. Differential diagnoses include attention deficit disorder with or without hyperactivity, learning disabilities, attachment disorder, and other genetic and psychiatric conditions. Congenital malformations that may not be caused by alcohol exposure can occur in children with FASD. Therefore, the term alcohol-related birth defect should not be used as a diagnosis. There is no specific treatment for FASD, but early diagnosis and intervention strategies can prevent secondary disabilities, including mental illness and difficulties with the law. A multidisciplinary team is recommended for accurate assessment and diagnosis. While a high prevalence of FASD among Aboriginal children has previously been documented (7,8), FASD is not a problem unique to Aboriginal communities. It is not a particular ethnic background that puts women at risk for having children affected by FASD. Rather, social determinants of health such as poverty, poor education, untreated mental illness, physical and sexual abuse, and social isolation increase the risk (9). FASD is common in adopted children, both from within Canada and other countries. Despite increased awareness, prevention efforts and government commitments toward funding specific programs, FASD continues to affect many First Nations, Métis and Inuit communities. Culturally sensitive prevention programs for school children, pregnant women and communities have been established in some communities, and more communities have access to diagnostic teams. However, test results of children living in different cultural environments must be interpreted with caution. Children with diagnosed FASD living in First Nations communities have very limited access to family, educational and social supports, and long-term intervention strategies are greatly lacking. First Nations, Métis and Inuit children with FASD are over-represented in foster care (10). Placement breakdown is common and leads to secondary disabilities. Children with FASD and their caregivers require long-term, sustainable supports in all regions of Canada. Much effort has been directed toward FASD prevention strategies and awareness campaigns. These programs need to be expanded to include more strategies and supports for high-risk mothers, such as the Parent-Child Assistance Program (11). The most important component of prevention is to improve the general social conditions in communities where there is a high prevalence of FASD. The Canadian Paediatric Society recommends more research to develop a better understanding of the most effective FASD prevention and intervention strategies for children throughout the lifespan. These strategies include medical interventions (including medication as well as nutrition), educational programs, family support and social coaching. Paediatricians need to continue to strongly advocate for better services for Canada's most disadvantaged children. Canada Northwest FASD Research Network . National Organization on Fetal Alcohol Syndrome . Fetal Alcohol Disorders Society . Aboriginal Children's Circle of Early Learning . This document was reviewed by the Canadian Paediatric Society's Community Paediatrics Committee.

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