Assessment for Fetal Alcohol Spectrum Disorder

Assessment Domains for FASDs

There is significant variability in symptom range and severity in each domain in individuals with an FASD.  The etiology of the variability is mixed and may include genetic differences, the quantity and timing of alcohol consumption, the pattern of exposure (chronic or binge drinking), and postnatal experiences including socioeconomic factors, educational opportunities, and parenting style. 

There are four assessment domains when assessing an individual for a potential FASD:

1. A history of prenatal alcohol exposure – important points:
   • Obtaining a history of prenatal alcohol exposure should be routine for all pediatric patients.
   • Approach mothers using a non-judgmental attitude and non-stigmatizing language.
   • No amount of alcohol intake is considered safe during pregnancy.
   • There is no safe trimester to drink alcohol.
   • Prenatal alcohol exposure may occur before a woman is aware she is pregnant.
   • All forms of alcohol, such as beer, wine, and liquor, pose similar risk.
   • Binge drinking (having 4 or more drinks at one time) poses an increased, dose-related risk to the developing fetus.

2. Developmental, cognitive, or behavioral concerns: prenatal alcohol exposure may cause deficits in neurocognition, self-regulation and adaptive function (ND-PAE) that can occur at any time during development.
   • Neurocognitive deficits include cognitive/developmental deficits or discrepancies, executive functioning deficits, speech/language delays, and/or motor functioning delays.
   • Self-regulation problems in younger children can include problems with self-soothing and sleep. Problems in older children include behavior dysregulation.
   • Delayed adaptive skills include problems with social skills and self-care or daily living skills.

3. Dysmorphic cardinal facial features: These features may be associated with prenatal alcohol exposure. These features are required for a diagnosis of Fetal Alcohol Syndrome:
   • Smooth philtrum (the ridge under the nose and above the lip)
   • A thin upper lip (referred to as a thin vermillion border)
   • Reduced palpebral fissure length (the distance from the inner corner to the outer corner of the eye)

4. Growth deficits and structural anomalies - The severity of the effects can vary widely across affected individuals:
   • Confirmed prenatal and/or postnatal growth deficiency (lower-than-average height, weight or both, and/or smaller head circumference of less than 10^th percentile, adjusted for age, gender, gestational age, race, or ethnicity).
   • Heart defects and cleft palate (less common) can be found in a range of FASDs.
     
     

Trauma Informed Approach

A child’s adaptation to a stressful environment may result in dysfunctional behaviors and in risks to future health. Physician awareness of an individual’s past and ongoing trauma is important to the assessment and to the differential diagnosis of an FASD. It can be difficult to distinguish the ongoing effects of trauma adaptations from the behavior seen with ND-PAE. Both are associated with poor executive function, cognitive challenges, and emotional instability. Unfortunately, toxic prenatal exposures and postnatal toxic stress often coexist. When they do, a pre-existing neurodevelopmental condition like ND-PAE may impair a child’s resilience in the face of trauma/toxic stress and magnify adverse consequences.

Assessment for an FASD

Monitoring growth and head circumference are also a routine part of health supervision.  Measurements of growth deficiency below the 10^th percentile can trigger a closer look at prenatal alcohol exposure history and development. Screening for facial features is a simple addition to the physical exam.  Standards can be found here and cards for use in clinic can be ordered here. 

Refer and follow up if the child demonstrates cardinal dysmorphic facial features, PAE, and/or generalized cognitive deficits and behavioral or global deficits. Most neurobehavioral assessments will require assessment by a psychologist with sufficient experience, or a neuropsychologist.

Any assessment that leads to a diagnosis of an FASD must include a history of prenatal alcohol exposure.

An individual that had prenatal alcohol exposure may be diagnosed under the FASD umbrella that includes Neurobehavioral Disorder Associated with Prenatal Alcohol Exposure (ND-PAE), Alcohol-Related Neurodevelopmental Disorder (ARND), Fetal Alcohol Syndrome (FAS) and Partial Fetal Alcohol Syndrome (PFAS), and Alcohol-Related Birth Defects (ARBD).

Neurobehavioral Disorder associated with Prenatal Alcohol Exposure (ND-PAE)

Individuals with ND-PAE have neurodevelopmental, neurobehavioral, or mental health effects of prenatal alcohol exposure with or without the associated physical dysmorphia. ND-PAE manifests in functional impairments of neurocognition, self-regulation, and adaptive functioning. Although these broad domains overlap with other disorders of childhood, specific deficits within them are indicative of ND-PAE.

Recent scientific studies about FASD focused on the neurocognitive and neurobehavioral presentations of individuals with ND-PAE. Prior to research on ND-PAE, diagnostic schema used the term Alcohol-Related Neurodevelopmental Disorder (ARND). ND-PAE and ARND are overlapping and similar but with a major difference. ND-PAE can be present with or without dysmorphic features whereas ARND is without the presence of full cardinal dysmorphic facial features found in individuals with FAS.

The diagnoses of ND-PAE and ARND are similar. They result from different protocols for an FASD diagnosis. The important factors are recognizing that prenatal alcohol exposure may have played a role in an individual’s challenges and that the individual and family receive the needed resources.

• Impaired neurocognitive functioning as manifested by one or more of the following:
  • Global intellectual performance (i.e., IQ of 70 or below, or a standard score of 70 or below on a comprehensive developmental assessment)
  • Executive functioning (e.g., poor planning and organization; inflexibility; difficulty with behavioral inhibition)
  • Learning (e.g., lower academic achievement than expected for intellectual level; specific learning disability)
  • Memory (e.g., problems remembering information learned recently; repeatedly making the same mistakes; difficulty remembering lengthy verbal instructions)
  • Visual-spatial reasoning (e.g., disorganized or poorly planned drawings or constructions; problems differentiating left from right)

• Impaired self-regulation as manifested by one or more of the following:
  • Mood or behavioral regulation (e.g., mood lability; negative affect or irritability; frequent behavioral outbursts)
  • Attention (e.g., difficulty shifting attention; difficulty sustaining mental effort)
  • Impulse control (e.g., difficulty waiting turn; difficulty complying with rules)

• Impaired adaptive functioning as manifested by two or more of the following, one of which must be either a communication deficit or an impairment with social communication and interaction:
  • Communication deficit (e.g., delayed acquisition of language; difficulty understanding spoken language)
  • Social communication and interaction (e.g., overly friendly with strangers; difficulty reading social cues; difficulty understanding social consequences)
  • Daily living skills (e.g., delayed toileting, feeding, or bathing; difficulty managing daily schedule)
  • Motor skills (e.g., poor fine motor development; delayed attainment of gross motor milestones or ongoing deficits in gross motor function; deficits in coordination and balance

Assessment and diagnosis of a child with ND-PAE or ARND are important in order to help pediatric care providers and parents understand a child’s neurobehavioral strengths and limitations while providing a framework for parents and teachers to employ necessary developmental and educational interventions for the child’s success. It is important to recognize that features of ND-PAE are very similar to those of ADHD, and that ADHD is a commonly found co-occurring illness. When assessing a child for ADHD, always include an assessment of prenatal alcohol exposure, growth parameters, and facial features.

View information on Neurobehavioral Disorder Associated with Prenatal Alcohol Exposure (ND-PAE) that includes details in ND-PAE Age Dependent Symptom Diagnosis Guidelines and differential diagnosis in Differential Diagnosis for ND-PAE.

Download the Neurobehavioral Disorder Associated with Prenatal Alcohol Exposure training presentation.

Alcohol-Related Neurodevelopmental Disorder (ARND)

Individuals with Alcohol-Related Neurodevelopmental Disorder were prenatally exposed to alcohol and have associated neurodevelopmental and behavioral effects without all of the cardinal dysmorphic features or growth problems of FAS. Specific criteria for a neurodevelopmental impairment include neurocognitive deficits, self-regulation problems, difficulty learning, and adaptive function skills.

As noted above, ND-PAE and ARND are overlapping and similar but with a major difference. ND-PAE can be present with or without dysmorphic features whereas ARND is without the presence of full cardinal dysmorphic facial features found in individuals with FAS.

The DSM 5 Taskforce reviewed scientific information to bring consensus on clinical criteria on the DSM-5 Diagnosis to Recognize Alcohol-Related Neurodevelopmental Disorder (ARND).

Fetal Alcohol Syndrome (FAS) and Partial Fetal Alcohol Syndrome (PFAS)

Individuals are diagnosed with FAS only if they meet all the following 3 diagnostic criteria:

Prenatal and/or postnatal growth deficiency (≤ 10th percentile for head circumference, age and gender for height or weight or both); this can be prenatal growth restriction, such as in a child born small for gestational age, or postnatal growth restriction.

• Three (3) specific facial abnormalities:
  • Smooth philtrum (the ridge under the nose and above the lip)
  • A thin upper lip (referred to as a thin vermillion border)
  • Reduced palpebral fissure length (the distance from the inner corner to the outer corner of the eye)
• Any of a range of recognized neurodevelopmental or neurobehavioral conditions.

An assessment and diagnosis of FAS, with its distinctive dysmorphic features, is not an indicator of the severity of the impact of prenatal alcohol exposure. Individuals with different manifestations of ND-PAE or with ARND may be equally or more affected by prenatal alcohol exposure than those with FAS.   

Dysmorphic features change over the life span due to changes in fat deposition, collagen balance, and maturing bone/skull structure.  Many of the features of FAS are most evident during the preschool to early school age period.

• While the 3 cardinal facial dysmorphic features are required for a diagnosis of FAS, there are other features that occur with increased frequency in individuals with an FASD and can include
• Epicanthal folds (small flaps of skin on the inner lower eye lid that cover the inner corner of the eye),
• “Railroad track” ears (outer ears with extra ridge)
• Clinodactyly (fingers that curve away from the thumb)
• “Hockey stick” palm crease (crease has sharp angle toward fingers)
• Low nasal bridge

View a video: Diagnosis of Fetal Alcohol Syndrome (FAS)

View the video Diagnosis of Fetal Alcohol Syndrome for a demonstration of the physical examination for Fetal Alcohol Syndrome (FAS). In this video, Kenneth Lyons Jones, MD, from the University of California San Diego School of Medicine and Rady’s Children’s Hospital, performs a physical examination on a child with FAS, a subcategory under the umbrella term fetal alcohol spectrum disorders (FASD). Dr Jones explains the physical features of FAS that are required to make a diagnosis of the disorder. He demonstrates how to identify the 3 cardinal facial dysmorphic features, prenatal and/or postnatal growth deficiency, and other physical characteristics commonly seen in children with FAS. The video includes a preamble in which Dr Jones explains the importance of the neurobehavioral evaluation in identifying children with an FASD.

View

Lip and Philtrum

The Lip Philtrum Guide is used to rank the upper lip thinness and philtrum smoothness. The grades of the lip and philtrum are dependent upon race, age, and population mean. View and download the Diagnostic Tools to learn how to measure philtrum smoothness and upper lip thinness accurately.

Palpebral Fissures

The palpebral fissure length is defined by the distance between the endocanthion (en) and exocanthion (ex) landmarks.  View and download the Diagnostic Tools to learn the different techniques used to measure palpebral fissures, the standards for palpebral fissure lengths, how to determine the best method, and choose the right standard.

Individuals can be diagnosed with partial FAS (PFAS) if they have the diagnostic criteria of FAS without all of the physical features (growth impairment, decreased head circumference). PFAS is uncommon.

Alcohol-related Birth Defects (ARBD)

Individuals with Alcohol-Related Birth Defects (ARBD) have problems with congenital anomalies caused by prenatal exposure to alcohol, but do not show evidence of neurocognitive or neurodevelopmental deficits (ND-PAE). Alcohol-Related Birth Defects are caused by the impact of prenatal exposure to alcohol on how an individual’s organs were formed and/or how they function, including the heart, kidney, bones, as well as hearing and/or vision. ARBD is uncommon.