Standardizing Diagnosis of FAS Jocelynn L. Cook, Ph.D.

Background  FAS is underdiagnosed  FAS and other alcohol-related disabilities are difficult to diagnose  Diagnosis is often necessary for patients to receive access to intervention services  Early intervention has been shown to improve outcome

Background  It is critical that physicians make the diagnosis of FASD  Health professionals do not feel prepared to care for affected individuals and their families  Health professionals report that they require more education and training :  To feel more comfortable caring for affected individuals and their families  To make accurate and reliable referrals and diagnoses  Standardized diagnostic guidelines would be helpful for increasing the knowledge and comfort levels of physicians around identification and diagnosis and for gathering information on FASD Nationwide

Standardizing Screening, Diagnosis, and Surveillance  Health Canada has established an expert committee to recommend National guidelines for identification and diagnosis of FAS and its related disabilities  Guidelines are meant to be a gold standard  Discussion has centered around:  Definitions and terminology (FASD)  Identification tools  Diagnostic procedures  Incidence/prevalence  Feasibility of standardized National guidelines  Research needs  Capacity building

Accomplishments to Date The committee has sought the advice of other experts and has made draft recommendations about:  Terminology and the use of FASD  Diagnosis as it relates to facial abnormalities, growth, and neurobehavioral characteristics  The necessity of linking diagnosis to the provision of services  The need for validated identification tools to screen for prenatal alcohol exposure  Research needs and priorities as they relate to diagnosis

Terminology: Fetal Alcohol Spectrum Disorder  Fetal Alcohol Spectrum Disorder (FASD) is an umbrella term that encompasses the 5 published diagnostic categories in the Institute of Medicine criteria for Fetal Alcohol Syndrome (Reference: Institute of Medicine, p.79).  FASD should not be used as a diagnostic term

FAS (confirmed exposure) Alcohol-Related Birth Defects Partial FAS Alcohol-Related Neurodevelopmental Disorder FAS (without confirmed exposure)

Screening for Prenatal Alcohol Exposure  Based on available information, the committee believes there is no reliable identification tool currently in use with demonstrated validity (and specificity) to predict prenatal alcohol exposure in children, adolescents, and adults  Identification cannot be equated with diagnosis  Culturally sensitive and effective screening tools that are adaptable to different age groups and to different contexts must be developed

Diagnosis: The Team  A multidisciplinary team is essential for an accurate and comprehensive diagnosis and treatment recommendations.  The multidisciplinary diagnostic team can be geographical/regional, virtual, or can accept referrals from distant communities and be evaluated using telehealth

The core team for diagnosis of any individual may vary according to the context, but ideally should consist of :  Co-ordinator (for case management) – this could be a nurse, social worker  Specially trained physician(s) (pediatrician/developmental pediatrician/clinical geneticist)  Psychologist  Occupational therapist  Speech Language Pathologist  The core team is complemented by a psychiatrist Diagnosis: The Team

 The community and the family must be prepared and ready to participate in, and be in agreement with, the diagnostic assessment.  The community and the family must understand the reasons, benefits and potential harms of an alcohol related diagnosis.  Following the diagnostic assessment, there must be support in the community for implementation of the recommendations.  The diagnostic team should have a means to follow-up outcomes of diagnosis assessments/treatments and determine if recommendations have been carried out. Diagnosis of FAS

The recommended minimum procedure for the physical exam is:  Measure and plot growth parameters and head circumference  A general physical and neurological examination  Search for and document any major anomalies (cleft palate, heart murmurs, etc.) or minor anomalies (e.g., epicanthic folds, high arched palate, maligned or abnormal teeth, hypertelorism, micrognathia, abnormal hair patterning, abnormal palmar creases, skin lesions, etc.)  Measure and plot palpebral fissure lengths using a clear flexible plastic ruler  Assignment of an independent score for the lip and the philtrum using the lip-philtrum guide The Physical Diagnosis

Growth

Based on Institute of Medicine criteria (height is less than or equal to the 10 th percentile and/or a disproportionately low weight: height ratio: less than or equal to 10 th percentile) using appropriate norms and taking into consideration other confounding variables including parental size/genetic potential and medical conditions (e.g., gestational diabetes) Diagnosis of FAS: Growth

Face

(Adapted from Streissguth et al., 1994)

 The following discriminating features that can be readily observed and and where standards can be established should be measured:  Short palpebral fissures AND  Abnormalities in the premaxillary zone (smooth/flattened philtrum, smooth upper lip)  Associated physical features (abnormalities of the midface/maxillary area, mandible, ears, and nose) should be recorded but do not contribute to the diagnosis Diagnosis of FAS: Face

The Neurobehavioral Assessment

Neuro-Psychological Performance Associated with Prenatal Alcohol Exposure Mattson and Riley, 1998

 Hard and Soft Neurological Findings (including sensory-motor)  Small Head Circumference and other Structural Brain Abnormalities  Cognition: Full Scale IQ below 70  Communication: delayed or disordered receptive and expressive language  Academic Achievement: inconsistent with IQ level or discrepancies across areas (e.g., Reading vs. Arithmetic)  Memory: Auditory and Visual  Executive Functioning and Abstract Reasoning  Attention/hyperactivity  Adaptive Behavior/Social Skills/Social Communication The Neurobehavioral Assessment: Suggested Domains for Measurement

 Guidelines establish a threshold for diagnosis  Assessment should include both basic and complex tasks in each domain, as appropriate  Where standardized tests are used, scores 2 SD below the mean in 3 domains suggests organic impairment  Domains are assessed as independent entities. Where there is overlap, abilities should not be double counted and experienced clinical judgment is required  A discrepancy of at least 1 SD between subdomains may be indicative of brain dysfunction  Evidence of impairment in 3 domains is necessary for diagnosis, but a comprehensive assessment requires that each domain be assessed The Neurobehavioral Assessment

Maternal Alcohol History  Hearsay or evidence about previous pregnancies should not be relied upon as data for maternal alcohol history  Specific criteria around amounts of alcohol that will likely cause the disabilities of FASD are being developed  The number and type(s) of alcoholic beverages consumed (dose), the pattern of drinking, and the frequency of drinking should all be documented.  Sources for information include:  Birth mother/Birth mother’s partner  Family member  Foster family  Health care professionals  Records  Documentation of maternal alcohol use should be correlated with timing of maternal recognition of pregnancy

Next Steps (in conjunction with experts in the field)  Finalization of guidelines after review by experts, stakeholders, and NAC  Publication of guidelines in peer-reviewed journal by NAC sub-committee  Development of an identification tool that can be validated for use in different populations  Discussion of how to measure incidence/prevalence  Environment scan of training and education programs for health professionals and development of a gold standard program  Attend to research priorities and capacity building

Acknowledgements n Dr. Fred Boland n Dr. Ab Chudley (co-chair) n Dr. Julie Conry n Dr. Nicole LeBlanc n Dr. Christine Loock n PPHB & FNIHB’s FASD Teams