Patients With Prenatal Alcohol Exposure Frequently Misdiagnosed, Face Multiple Challenges

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Multiple organs of the fetus are at risk of damage from the teratogenic effects of alcohol crossing the placenta. Disorders of the skin and endocrine, renal, and cardiac systems are overrepresented among those affected by prenatal alcohol exposure (PAE).

The trajectory and long-term outcomes of those with PAE were initially shrouded in mystery. Practitioners in the field then adopted the term invisible disorder for the consequences of PAE. According to the DSM-5, the diagnostic terms fetal alcohol spectrum disorder (FASD) or neurodevelopmental disorder associated with prenatal alcohol exposure (ND-PAE) describe the combined challenges and strengths common in people whose mothers consumed sufficient alcohol at the threshold known to be associated with adverse neurobehavioral effects. Individuals diagnosed with ND-PAE suffer primarily from cognitive and intellectual deficits, including the areas of learning and memory, language, attention, executive functioning, and adaptive and social functioning.

Emanating from these primary cognitive deficits are more debilitating secondary disabilities such as psychiatric and behavioral disorders. Characteristically, these individuals present with irritability, impulsivity, poor awareness of risk, and poor communicative functioning. Comorbid conditions include mood, anxiety, substance use, and trauma-related disorders.

Rigors of Diagnosis?

Early confirmation of FASD/ND-PAE is a protective factor across the lifespan. Multiple schemes for diagnosis endorse a multidisciplinary team approach to identify the clinical features for a FASD/ND-PAE diagnosis. Diagnosis depends on the presence of and threshold criteria for neuropsychological deficits, facial dysmorphic features, growth restriction associated with PAE, and confirmation of alcohol exposure during gestation. Complicating the diagnosis of PAE in children, youth, and adults is the high prevalence (40% to 90%) of diagnosable mental disorders, making it difficult to differentiate the effects of alcohol exposure only. More than 80% of those identified in studies as adversely affected by PAE had previously been labeled with other mental diagnoses. Due to a deficiency in training curricula, the best chance for trainees (especially medical students) to see individuals with PAE is a rotation with a neonatologist interested in dysmorphology.

PAE interacts with biosocial factors to produce disease. These genetic, nutritional, and socioeconomic factors combine with childhood adversity to inform the health trajectory of many individuals with PAE. While genetically high rates of mental disorders are common in individuals with PAE, social challenges—namely, substance use disorders, criminality, social exclusion, school failure, unemployment, and suicidality—tend to plague these patients at rates higher than that found in the general population.

Role of Clinicians and New Interventions to Streamline Therapy

Because of the inherent gap in clinicians’ knowledge and expertise to diagnose those with PAE, they need a guide to raise their awareness of the complex presentation of FASD/ND-PAE. Clinical blind spots are, therefore, not due to ignorance or a source of blame. Because many patients go undiagnosed, clinical vignettes and other practical clinical strategies for detection and intervention are essential for clinicians.

PAE predisposes to brain-based abnormal functioning and bodily defects. Gaps in care and delay in diagnosis are the recognized factors that are associated with negative outcomes in the trajectory of those with PAE. Mislabeling is a consequence of such negative outcomes. As no organ is spared, multiple complaints and symptoms are present in those diagnosed with the consequences of PAE. Multiple factors like shame, guilt, fear of losing offspring, poor memory, and death of the mother limit the information on PAE, which leads to a plethora of diagnoses in PAE patients. Consequently, multiple medications are prescribed to target the many symptoms usually not conceptualized to align with the unifying explanation of PAE. Research depicts the patients as unnecessarily overmedicated, prone to experiencing side effects, and highly dysfunctional. In some studies, the average number of psychotropic medications taken by those with PAE compared with neurotypical patients was three to four times and more.

To address this disparity and source of inadequate care, a psychotropic medication algorithm was developed to aid prescribing. The neurocognitive and behavioral manifestations can be divided into four clusters (hyperarousal, affect dysregulation, hyperactive/cognitive, and cognitive inflexibility); different classes of psychotropic medications target each cluster. The algorithm provides psychotropic medication options to help streamline decisions; the risk-benefit ratio of rational pharmacology supports prescription and reduces polypharmacy, a well-intended and necessary outcome.

There are specific evidence-based interventions that enhance mood regulation and improve cognition and math skills (see second resource noted at the end of this article). Other treatments target competence in communication, social skills, and self-awareness for socialization and safety and may include traditional group sessions but also individualized programs since learning in a group interferes with skills acquisition.

Conclusion

FASD/ND-PAE is a multifaceted, lifelong disorder. Early diagnosis and treatment are critical to ensure the best clinical and social outcomes. Because FASD/ND-PAE is not central in medical curricula, clinicians must now take an inquisitive approach to diagnose people affected by prenatal alcohol exposure. Exercising attentive and rigorous efforts to prevent misdiagnosis offer individuals the best chance to receiving appropriate supports early in life. Optimal functioning of individuals instead of labels should be each clinician’s goal and focus in supporting those diagnosed with FASD/ND-PAE. ■

Mansfield Mela, M.B.B.S., M.Sc.Psych., is director of the Centre for Forensic Behavioral Science and Justice Studies and the diagnostic research lead of the Canada Fetal Alcohol Spectrum Disorder Research Network. He is the author of Prenatal Alcohol Exposure: A Clinician’s Guide from APA Publishing. APA members may purchase the book at a discount.