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Diagnostic Tools

 
Diagnosis and Assessment of FASD (podcast)
This podcast provides the criteria necessary to diagnose FAS and related conditions within a comprehensive framework for services. This is the fifth podcast in a series of 8. The supplement to Podcast V demonstrates the actual diagnostic evaluation with children of varying ages.

Dysmorphic Features of Fetal Alcohol Syndrome (illustration) 
This illustration identifies the dysmorphic features of FAS.

Online Course: FASD 4-Digit Diagnostic Code
Learn an interdisciplinary clinical approach to diagnosing FASD using the (2004) 4-Digit Diagnostic Code. The 4-Digit Diagnostic Code has been practiced by interdisciplinary diagnostic teams across the United States and Canada since 1997 with documented high performance. This online course includes case studies, animations, practice sessions, and self-assessment.

Recommended Assessment Tools for Children and Adults With Confirmed or Suspected FASD
This link provides a list of assessments recommended for children and adults with confirmed or suspected FASDs.

Comparison of the 4-Digit Diagnostic Code and the Hoyme Diagnostic Guidelines for Fetal Alcohol Spectrum Disorders
This basic research article compares the performance of these 2 systems.

Lip Philtrum

Palpebral Fissures

About Measuring Palpebral Fissure
This resource helps explain the different techniques used to measure palpebral fissures, the standards for palpebral fissure lengths, and how to determine the best method and choose the right standard.

Reference Values for Palpebral Fissure Lengths

  • Clarren SK, Chudley AE, Wong L, Friesen J, Brant R. Normal distribution of palpebral fissure lengths in Canadian school age children. Can J Clin Pharmacol. 2010;17(1): e67-e78
  • Hall JG, Froster-Iskenius UG, Allanson JE. Handbook of Normal Physical Measurements. Oxford, UK: Oxford University Press; 1989
  • Iosub S, Fuchs M, Bingol N, Stone RK, Gromisch DS, Wasserman E. Palpebral fissure length in black and Hispanic children: correlation with head circumference. Pediatrics. 1985;75(2):318-320
  • Jones KL. Fetal alcohol syndrome. In: Smith’s Recognizable Patterns of Human Malformation. 6th ed. Philadelphia, PA: W.B. Saunders; 2006
  • Stromland K, Chen Y, Norberg T, Wennerstrom K, Michael G. Reference values of facial features in Scandinavian children measured with a range-camera technique. Scand J Plast Reconstr Hand Surg. 1999;33:59-65

CNS Assessment
More than 2,000 scientific papers over the past 40 years have documented the teratogenic effects of in utero alcohol exposure on the developing child’s CNS. Structural, neurologic, and functional deficit have been documented, resulting in negative short- and long-term cognitive and behavioral outcomes. Because functional deficits are most relevant to pediatric practice, description of those deficits, disorders, and limitations are emphasized here.

Areas of concern for FASDs include global deficits or developmental delay (ie, intellectual impairment), attention issues, executive functioning problems, motor (gross and fine) delays, learning and retention problems, social deficits (including lack of pragmatic language skills), and other non-specific issues such as sensory motor problems, poor cause-and-effect reasoning, and/or sexual misconduct. 

In 2011 the Interagency Coordinating Committee on FASDs convened a consensus committee on recognition of ARND. Conclusions from this committee also have implications for assessment of the CNS component of FAS diagnosis. This committee reviewed the scientific body of literature and concluded that the constellation of CNS symptoms associated with these disorders and the domain of neurodevelopment that should be assessed are:
  • Neurocognitive impairment
  • Self-regulatory challenges
  • Adaptive functioning
While a number of validated assessment procedures are available for each of these domains of neurodevelopment, ongoing research by the AAP and others will provide further guidance. 

Common Educational Tests Used for Assessments for Special Education: This chart provides a list of commonly used tests/measures to aid in determining if a child requires special education.

Differential Diagnosis
  • Attention Problems
    Children with an FASD are often diagnosed with attention-deficit/hyperactivity disorder (ADHD). Distinguishing between FASDs and ADHD is warranted as adaptive behavior, executive functioning, attention, and memory vary across these diagnoses. The following articles discuss theories related to possible variants of ADHD for children diagnosed with an FASD, treatment options, and varying responses to medications.
  • Early Trauma
    Both FASDs and postnatal trauma (primarily abuse, neglect, or dysfunctional parenting) adversely affect neurobiological and psychosocial development. This article describes a study into the compounding effects of these 2 factors.
    • Neurobiological and Neurodevelopmental Impact of Childhood Traumatic Stress and Prenatal Alcohol Exposure: Research reveals that prenatal alcohol exposure and child trauma (ie, abuse, neglect, and sexual abuse) can have deleterious effects on child development across multiple domains. This study analyzed the impact on childhood neurodevelopment of prenatal alcohol exposure and postnatal traumatic experience compared to postnatal traumatic experience alone. Findings indicate that children exposed prenatally to alcohol along with postnatal traumatic experience had lower intelligence scores and more severe neurodevelopmental deficits in language, memory, visual processing, motor skills, and attention than did traumatized children without prenatal alcohol exposure. The children with prenatal alcohol exposure also had more oppositional defiant behavior, inattention, hyperactivity, impulsivity, and social problems.
    • Understanding the Behavioral and Emotional Consequences of Child Abuse: Children who have suffered early abuse or neglect may later present with significant behavior problems including emotional instability, depression, and a tendency to be aggressive or violent with others. Troublesome behaviors may persist long after the abusive or neglectful environment has changed or the child has been in foster care placement. Neurobiological research has shown that early abuse results in an altered physiological response to stressful stimuli, a response that deleteriously affects the child's subsequent socialization. Pediatricians can assist caregivers by helping them recognize the abused or neglected child's altered responses, formulate more effective coping strategies, and mobilize available community resources.
  • Autism
    The article 'Re-examining the core features of autism: a comparison of the autism spectrum disorder and fetal alcohol spectrum disorders,' (Journal of Child Psychology and Psychiatry Vol 48 Issue 11) discusses the differences in the overall clinical descriptions of the two disorders. Although not a typically associated co-occurring condition, cases of children with both an FASD and an autism spectrum disorder have been reported, particularly for children with very heavy prenatal alcohol exposure and very low functioning.
  • Genetic Disorders
    Because dysmorphic facial features are part of the diagnostic criteria for the full FAS Guidelines for Referral and Diagnosis, features that overlap with other genetic disorders need to be considered. The Guidelines for Diagnosis and Referral by the National Taskforce on FAS/FAE provides 2 helpful charts that list (1) genetic disorders that also display the 3 cardinal features of FAS (ie, smooth philtrum, thin vermillion border, and small palpebral fissures) and (2) disorders with facial gestalt similar to FAS but can be distinguished by other features.
Comorbidities
  • Seizures
    The Remarkably High Prevalence of Epilepsy and Seizure History in Fetal Alcohol Spectrum Disorders
    . Bell SH, Stade B, Reynolds JN, Rasmussen C, Andrew G, Hwang PA, Carlen PL. Alcohol Clin Exp Res. 2010; 34(6): 1084-1089. FASD is associated with several comorbidities including epilepsy. This article describes history of seizures among patients at 2 Canadian diagnostic clinics.
  • Immune Function
    The following articles describe the increased risk of infection, especially sepsis, in newborn infants with prenatal alcohol exposure.

  • Is Maternal Alcohol Use a Risk Factor for Early-Onset Sepsis in Premature Newborns? Gauthier TW, Manar MH, Brown LAS. Alcohol. 2004;33:139-145
  • Maternal Alcohol Abuse and Neonatal Infection. Gauthier TW, Drews-Botsch C, Falek A, Coles C, Brown LAS. Alcohol Clin Exp Res. 2005;29:1035-1043

  • Mental Health
    How Fetal Alcohol Spectrum Disorders Co-Occur with Mental Health

    This SAMHSA fact sheet outlines how prenatal alcohol exposure can cause behavioral, cognitive, and psychological problems. Individuals with FASDs also may receive multiple diagnoses, which may require multiple referrals. Also, it is important to determine if the signs and symptoms are the result of prenatal alcohol exposure or the result of early trauma (or both), which could affect the type of referrals needed. This fact sheet also demonstrates how having an FASD may make treatment for the different mental health disorders more challenging.
Scripts for Providers
FASD Diagnostic Clinics in US
The National Organization on Fetal Alcohol Syndrome (NOFAS) has a searchable directory of all the FASD diagnostic clinics in the US. Search by state to find the nearest clinic. E-mail directory updates to info@nofas.org.

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