Diagnosis of fetal alcohol spectrum disorder: current practices and future considerations

Abstract

This paper discusses the current state of knowledge and practice for diagnosing fetal alcohol spectrum disorder (FASD). The strengths and challenges of different models of diagnosis are compared. Some models require a team approach for evaluation, while other approaches assume that a clinician in his or her office provides a diagnosis based on a review of the patient's medical and social history, behaviour, and physical examination. The author reviews the emergence of new information from recent advances in genetics, imaging, and electrophysiology that has the potential to lead to changes in practice and improved reliability of an FASD diagnosis.

Comparing diagnostic outcomes of children with fetal alcohol syndrome in South Africa with diagnostic outcomes when using the updated Institute of Medicine diagnostic guidelines

“…Where experienced clinicians with a background in genetics and dysmorphology are available, it would be valuable if the use of the IOM criteria is supplemented by the gestalt method. It needs to be emphasized that the current approach is not intended to replace the modified versions of the IOM criteria (Hoyme et al, , ), but rather to identify FAS and FASD cases that present differently which can inform the continuing process of finding universally applicable and validated guidelines (Chudley, ; Coles et al, ; Del Campo & Jones, ).…”

“…There is significant disagreement between the various diagnostic systems, to such an extent that there is only “fair” to “moderate” agreement on diagnoses when the same participants are diagnosed using the various systems (Coles et al, ). These discrepancies complicate the comparison of prevalence figures, the evaluation of interventions, and make it difficult to validate FASD diagnoses (Chudley, ). With the progress being made in working toward clinical criteria for diagnosis (Astley & Clarren, ; Hoyme et al, ), it is important to not lose sight of the fact that the pool of individuals on whom the diagnostic criteria are based, may not represent the full picture of how the impact of PAE presents.…”

Foetal alcohol spectrum disorder: Effective helping responses from social workers

“…Foetal alcohol spectrum disorder (FASD) is a health and social issue that impacts individual and family well-being. The dangers of prenatal alcohol exposure have been highlighted in academic publications from the late 1960s (Chudley, 2018). For individuals this can result in lifelong impairments, and, with their families, FASD can be experienced as a disability, gaining both positive and negative attention from a diverse range of professionals and systems (Badry and Choate, 2015; Gibbs and Sherwood, 2017).…”

“…The FASD spectrum describes a range of adverse effects that can occur as a result of exposure to alcohol prenatally (Chudley, 2018; Streissguth et al, 2004). This can include birth defects and neuropsychological impairments that result in behaviour challenges and lifelong learning disabilities.…”

“…This can include birth defects and neuropsychological impairments that result in behaviour challenges and lifelong learning disabilities. The clinical features of FASD vary from individual to individual and diagnostic guidelines and terminology vary internationally; however, common neurological impairments include deficits in memory, complex information processing, learning, social communication, day-to-day living skills or adaptive skills, executive functioning impairments such as poor planning and organizational skills, and understanding cause and effect (Chudley, 2018; Mattson et al, 2011). If not appropriately supported, individuals with FASD are at high risk of developing secondary problems such as disrupted school experience, drug and alcohol addictions and mental illness (Streissguth et al, 2004).…”