FASD

Fetal Alcohol Spectrum Disorders (FASD)

FASD is an umbrella term describing the broad range of birth defects and disabilities, caused solely by prenatal alcohol exposure. These effects may include physical, neurological, behavioral, and developmental disabilities with lifelong implications. The term FASD is not meant for use as a clinical diagnosis. Depending on the features identified, the disorders categorized as FASD include: Fetal Alcohol Syndrome(FAS), Partial Fetal Alcohol Syndrome (PFAS), Alcohol-related neurodevelopmental disorder (ARND), Alcohol-related birth defects (ARBD), and Neurobehavioral disorder associated with prenatal alcohol exposure(ND-PAE).

Clinical Guidelines 

The rate of alcohol use among pregnant people in the U.S is 13.5%, binge rate among those who reported alcohol use is 5.2%. 

Maine PRAMS (2014-2020) shows a rate of alcohol use in Maine overall at 10.3%. Six of Maine’s sixteen counties have a rate at 10% and higher, the highest rate at 16.5% in Cumberland County.

All children should be screened for prenatal alcohol exposure when obtaining a birth history from the parent during routine pediatric care. Screening for prenatal alcohol exposure is especially important for children who have developmental delays or behavioral challenges.

If a diagnosis of an FASD is suspected, a referral to a professional with experience and training in FASD evaluation is critical to FASD informed care. The SAFEST Choice National Learning Collaborative is an FASD ECHO training through Boston Medical Center and PROOF Alliance, available to Maine providers.    

Treatment should focus on early intervention, school evaluation and support services, and behavioral management including psychopharmacologic interventions if indicated. Behavioral challenges in children with FASD should be seen as part of the greater neurological impairments that result from prenatal alcohol exposure. These behavioral challenges should not be attributed solely to the secondary psychiatric disabilities that attend fetal alcohol spectrum disorders such as attention deficit disorder, oppositional defiant disorder, or conduct disorder.

Common Diagnostic Approaches in Fetal Alcohol Spectrum Disorder

Familiarity with diagnostic approaches for FASDs contributes to accurate diagnosis, treatment, and care for children with FASDs 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.

  • History of prenatal alcohol or substance exposure
  • Developmental, cognitive, or behavioral concerns
  • Complex medical concerns (e.g. cardiac, kidney, strabismus, etc.)
  • Intrauterine or postnatal growth deficits (e.g. short stature)
  • Cardinal dysmorphic facial characteristics associated with FAS are present
  • History of a sibling diagnosed with an FASD

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

Pediatricians can choose which diagnostic protocol to use to make an FASD diagnosis.  AAP Diagnostic Approaches FASD

Approach: Neurobehavioral Disorder Associated with Prenatal Alcohol Exposure (ND-PAE)

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 Criteria Taskforce developed clinical mental health criteria to recognize Neurobehavioral Disorder Associated with Prenatal Alcohol Exposure (ND-PAE).

  1. More than minimal exposure to alcohol during gestation, including prior to pregnancy recognition. Confirmation of gestational exposure to alcohol may be obtained from maternal self-report of alcohol use in pregnancy, medical or other records, or clinical observation. 

  2. Neurocognitive Deficits (one):

  • Global intellectual performance

  • Executive Function 

  • Learning

  • Memory

  • Visual-spatial reasoning

  1. Problems with Self-regulation (one):

  • Mood or behavioral regulation

  • Attention deficit 

  • Impulse Control

  1. Delayed Adaptive Skills (two, one of which must be *)

  • *Communication deficits

  • *Impairment in social communication and interaction

  •  Impairment in daily living skills

  •  Impairment in motor skills

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 are: 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 CodeTM, 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) 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.

Brief description of possible diagnoses under FASD

Fetal Alcohol Syndrome (FAS)

  • Characteristic cranial facial abnormalities – smooth philtrum, narrow palpebral fissures, thin upper lip (facial abnormalities occur in 10-20% of children who have an FASD, that is FAS/PFAS)

  • Growth deficiency at or below10th percentile (stature or weight) 

  • A child with FAS may have at least one structural, neurological, or functional abnormality of the central nervous system, such as impaired executive function, memory deficits, dysregulation, attention deficit, sensory/auditory processing disorder, seizure disorder

  • Documented prenatal alcohol exposure not required given the relative specificity of the cardinal facial features

Partial Fetal Alcohol Syndrome (PFAS)

  • If documented prenatal alcohol exposure:

    Two or more characteristic cranial facial abnormalities (see FAS)

    No growth deficiency

    Neurobehavioral impairment with global impairment or, cognitive deficit in at least one neurobehavioral domain – executive function, memory impairment, etc.

  • Undocumented prenatal alcohol exposure:

    Two or more of the characteristic facial abnormalities

    Height or weight at or below 10th percentile

    Brain anomalies such as microcephaly, recurrent nonfebrile seizures

    Evidence of global impairment or, at least one structural, neurological, or functional abnormality of the central nervous system, such as impaired executive function, memory deficit, dysregulation, attention deficit, sensory/auditory processing disorder

Alcohol-related Neurodevelopmental Disorder (ARND)

  • No physical anomalies

  • No growth deficiency

  • Impaired cognition, behavior, or adaptive intelligence.

  • Documented prenatal alcohol exposure required

Alcohol-related Birth Defects (ARBD)

  • Skeletal – e.g., camptodactyly, clinodactyly, scoliosis, hypoplastic mandible/maxilla

  • Cardiac  - e.g., congenital heart disease

  • Immune system – e.g.,greater risk for inflammatory diseases, earlier onset arthritis, lupus, diabetes, celiac disease

  • Kidney – higher rates of kidney and urinary tract anomalies

  • Visual system – e.g., strabismus

  • Documented prenatal alcohol exposure

  • More information

Neurobehavioral Disorder Associated with Prenatal Alcohol Exposure

ND-PAE (see above)

Conditions found with an FASD may include:

  • Low birth weight or stature 

  • Speech and language delays

  • Dental issues - malocclusion, delay of permanent teeth, cleft palate, etc.

  • Difficulty understanding abstract concepts - metaphor, sarcasm, managing time or money

  • Adaptive function is significantly lower than IQ – may have average IQ but unable to tell time or manage money, daily self care, read social cues, stay safe

  • Skeletal abnormalities - permanent curving of the fifth finger (clinodactyly), permanent flexion contracture of a finger or toe (camptodactyly)

  • Hyperactive behavior - for which ADHD medications may not be effective

  • Impulsivity, poor judgment, difficulty learning from mistakes or generalizing knowledge

  • Poor social skills, developmentally younger than their peers, lower than expected adaptive intelligence

  • Poor coordination

  • Organization, planning, and memory issues, difficulty with multi-tasking

  • Difficulty in school despite average IQ, especially with abstract concepts like math

  • Heart, kidney abnormalities, autoimmune,  seizure disorder, sleep disorder

  • Sensory processing disorder - sensitivity to light, sound, touch, smells, taste and food texture, over and under-sensitivity to pain

  • Dysregulation - may have tantrums "out of nowhere", tantrums may persist past early childhood, easily overwhelmed or overstimulated by environment

Provider Information and Resources

Screening for Prenatal Alcohol Exposure: An Implementation Guide for Pediatric Primary Care Givers  

This implementation guide offers an evidence-informed method to determine a history of PAE and is intended to support pediatricians and other pediatric clinicians in facilitating early identification of children who are at risk for one of the FASDs.

FASD Training Modules AAP

The American Academy of Pediatrics (AAP) is pleased to offer a series of educational webinars on Fetal Alcohol Spectrum Disorders (FASD). The webinar sessions focus on identifying and diagnosing conditions on the continuum of FASD, addressing stigma and bias related to prenatal alcohol exposure, caring for children with an FASD, and neurobehavioral disorder associated with prenatal alcohol exposure (ND-PAE). The webinars are open to all clinical personnel with practicing primary care clinicians strongly encouraged.

The FASD REAL Champions Network lead these training sessions and facilitate webinars, present at conferences, and are available to respond to questions from chapter and district membership. For more information about scheduling grand-rounds presentations, please submit an inquiry through the FASD Regional Champions Network page.

Families Moving Forward (FMF)

From the FMF site: The families moving Forward (FMF) Program is a behavioral consultation intervention delivered by trained providers. The treatment can be customized to match the needs of many different families. FMF was tailored for families raising children 3-12 years with prenatal exposure (PAE) or fetal alcohol spectrum disorders (FASD, who have clinically concerning behavior problems. This group of families often feels caregiving stress, and seeks mental health care –or aftercare following an FASD diagnosis. Yet providers are often uncertain how to best serve them.

The FMF Program offers a specialized intervention approach which providers can learn through telehealth or in-person training. There is a carefully laid out program manual, accessible after training on a password-protected website. Clinically, the FMF Program combines positive behavior support techniques with motivational interviewing (MI) and cognitive-behavioral treatment (CBT). The FMF Program is scientifically validated through research.

The FMF Program offers: (1) caregiver support and coaching; (2) psychoeducation on effects of PAE, treatment-relevant FASD information, and advocacy; (3) skill-building in caregiver use of “proactive” parenting strategies (“accommodations”); and behavior planning; and (4) information on “looking forward” to the future. Targeted school and provider consultation, and community resource linkages, are also offered. The FMF Program aims to improve child and parent outcomes. FMF treatment emphasizes better child function and decreased child disruptive behavior— and improved caregiving attitudes, knowledge, and use of targeted parenting practices. The FMF Program also aims to meet important unmet family needs.

Parent and Family Resources

FASD United (Formerly NOFAS National Organization of Fetal Alcohol Syndrome)

NOFAS educates the public, practitioners, and policymakers about the risk of prenatal exposure to alcohol, drugs, and other substances known to harm fetal development including tobacco, marijuana, heroin and other opioids, cocaine, and methamphetamine, recognizing that these substances are often used simultaneously. NOFAS supports individuals and families living with FASDs through referrals, advocacy, training for professionals, information dissemination, and a wide range of diverse initiatives and resources.

PROOF Alliance (NOFAS Minnesota Affiliate)

Since 1998, we have had a dual purpose: providing education on the impact of alcohol use during pregnancy, which can encompass a lifetime of physical, mental and behavioral disabilities, and championing efforts to enable individuals living with an FASD to reach their full potential. Proof Alliance works to eliminate birth defects caused by alcohol consumption during pregnancy and to improve the quality of life of the individuals and families affected by FASD by providing resources and support. By building partnerships and improving services, Proof Alliance generates awareness of the importance of alcohol-free pregnancies.

FASD Maine

FASD Maine works to increase awareness and prevention of Fetal Alcohol Spectrum Disorder through education of individuals who have an FASD and their families, providers, educators, and community stakeholders. We do this in part by providing resources and training which increases diagnostic capacity, intervention, and support to those individuals and families affected by FASD.

Sources for this information:
AAP FASD Toolkit

AAP Educational Care for Children with Neurobehavioral Disorders 

Families Moving Forward

SAFEST Choice National Learning Collaborative

Maine PRAMS

CDC FASD