Common Diagnostic Approaches in Fetal Alcohol Spectrum Disorder

Familiarity with diagnostic approaches for FASDs contributes to accurate diagnosis, treatment, and care for affected children and their families.  Physicians can consider the diagnosis of an FASD when they recognize and assess one or more of the following factors or symptoms of a child who had exposure to prenatal alcohol use

• History of prenatal alcohol or substance use
• Developmental, cognitive, or behavioral concerns
• Complex medical concerns (e.g. cardiac)
• Growth deficits
• Cardinal dysmorphic facial characteristics associated with FAS are present
• A sibling diagnosed with an FASD

Differential diagnosis of any of the above concerns should include an FASD. Investigation would involve screening for physical characteristics (growth, facial dysmorphology), neurodevelopmental screening, and a sensitive exploration of a history for possible prenatal alcohol exposure.

Pediatricians can work with one or more of the following diagnostic approaches to determine an FASD diagnosis. The AAP recommends an assessment and initial differential diagnosis by the child’s pediatrician. When professionals are available, referral can be made to a multidisciplinary team for a comprehensive assessment to follow up on positive screens.

Approach:  Neurobehavioral Disorder Associated With Prenatal Alcohol Exposure

Description:  This system focuses on neurodevelopmental impairments associated with prenatal alcohol exposure with three general areas of greatest risk identified: 1) neurocognition, 2) self-regulation, and 3) adaptive impairment. The DSM-5 Taskforce developed clinical mental health criteria to recognize Neurobehavioral Disorder Associated with Prenatal Alcohol Exposure (ND-PAE).

The ND-PAE diagnosis requires evidence of more than minimal prenatal alcohol exposure. Although ND-PAE is included as a condition in Section III of DSM-5 (conditions for further study), the diagnosis and associated mental health codes can be used. ND-PAE can also be used as a specifier for children diagnosed with Intellectual Disability. Finally, the ND-PAE diagnosis can co-occur with other FASDs with physical features such as FAS or PFAS. 

Approach: Updated Clinical Guidelines for Diagnosing Fetal Alcohol Spectrum Disorders

Description: These updated guidelines are available in the research literature and follow the 1996 Institute of Medicine (IOM) framework. Diagnoses and criteria included in this system include: Fetal Alcohol Syndrome (FAS), Partial Fetal Alcohol Syndrome (PFAS), Alcohol-Related Neurodevelopmental Disorder (ARND) and Alcohol-Related Birth Defects (ARBD).  

Approach: FASD 4-Digit Diagnostic Code^TM, Third Edition

Description: The four digits in the code reflect the magnitude of expression of the key diagnostic features of an FASD: (1) growth deficiency, (2) the FAS facial features, (3) neurocognitive structural and functional abnormalities, and (4) prenatal alcohol exposure.

For each domain of assessment (i.e., exposure, neurodevelopment, dysmorphia & growth) the severity of exposure or impact is rated on a four-point scale.  These individual domain rankings are combined into a “4-Digit-Code”. The codes are then converted to a diagnostic label provided in a comprehensive table. An additional diagnostic category used in this system is Static Encephalopathy.   

Approach: Fetal Alcohol Spectrum Disorder: A Guideline for Diagnosis Across the Lifespan (Cook et al, CMAJ, 2015)

Description: This diagnostic process consists of a physical examination, the creation of a differential diagnosis, a neurobehavioral assessment, treatment and follow-up. The diagnosis requires a multidisciplinary approach. This approach leads to diagnoses of an FASD with or without cardinal dysmorphic facial features. 

In this system (Canadian), unlike in US systems, the term FASD is used as a clinical diagnosis.  This system does not include growth restrictions as criteria, although clinicians are urged to assess and note any growth issues. This system also includes an “at risk” category for children who present with issues related to prenatal alcohol exposure but do not meet criteria for an FASD diagnosis.