Fetal alcohol spectrum disorder: Canadian guidelines for diagnosis

Abstract

The diagnosis of fetal alcohol spectrum disorder (FASD) is complex and guidelines are warranted. A subcommittee of the Public Health Agency of Canada's National Advisory Committee on Fetal Alcohol Spectrum Disorder reviewed, analysed and integrated current approaches to diagnosis to reach agreement on a standard in Canada. The purpose of this paper is to review and clarify the use of current diagnostic systems and make recommendations on their application for diagnosis of FASD-related disabilities in people of all ages. The guidelines are based on widespread consultation of expert practitioners and partners in the field. The guidelines have been organized into 7 categories: screening and referral; the physical examination and differential diagnosis; the neurobehavioural assessment; and treatment and follow-up; maternal alcohol history in pregnancy; diagnostic criteria for fetal alcohol syndrome (FAS), partial FAS and alcohol-related neurodevelopmental disorder; and harmonization of Institute of Medicine and 4-Digit Diagnostic Code approaches. The diagnosis requires a comprehensive history and physical and neurobehavioural assessments; a multidisciplinary approach is necessary. These are the first Canadian guidelines for the diagnosis of FAS and its related disabilities, developed by broad-based consultation among experts in diagnosis.

Fig. 1: Lip-philtrum guide. A 5-point pictorial scale for measuring philtrum smoothness and upper lip thinness. Features are measured independently; for example, an individual can have a rank 5 philtrum and a rank 1 upper lip. Photo: Susan Astley, FAS DPN

Fig. 2: Palpebral fissure length. To measure palpebral fissure length, identify the inner corner or encanthion (en) and outer corner or excanthion (ex) for each eye. Have the patient look up so that ex can be seen clearly. With a clear flexible ruler held in the horizontal plane, measure the length of each ex-en interval immediately below the eye, being careful not to touch the eye or eyelashes. Plot the result on an appropriate nomogram chart to determine the percentile or standard deviation for each eye. Photo: Albert Chudley