This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
At an estimated prevalence of up to five percent in the general population, fetal alcohol spectrum disorders (FASD) are the most common neurodevelopmental disorder, at least if not more prevalent than autism (2.3%). Despite this prevalence in the general population, pediatricians and other developmental specialists have thus far failed to diagnose this disability, leaving most children and adults without the supports provided for most other disabilities. This paper will provide a review of clinically relevant literature that describes the developmental challenges of children with fetal alcohol spectrum disorders and addresses similarities to and differences of FASD from other neurodevelopmental disorders such as autism and attention deficit hyperactivity disorder. A subsequent discussion will describe how a diagnosis of an FASD can establish a basis for understanding the developmental and behavioral challenges of children with an FASD, and how specific interventions can help support child development and maximize adult independence.
In the 50 years since the effects of prenatal alcohol exposure upon fetal development were first described as a constellation of facial features, growth impairment, and neurodevelopmental impairments designated fetal alcohol syndrome (
Fetal alcohol spectrum disorders are so common that a physician can be certain he or she has cared for a child with this disorder. Physicians can be just as certain that no professional previously diagnosed that child with an FASD (unless they were the person who suspected this diagnosis). Despite widespread warnings, women often receive conflicting messages from professionals on the safety of alcohol use during pregnancy and alcohol use during pregnancy continues to be prevalent. A recent CDC study found that 13.5% of pregnant adults reported current drinking and 5.2% reported binge drinking in the past 30 days (
A study of first grade children in schools across four sites in the Midwest United States, found a total prevalence of FASD of 1.1%–5% (up to one in twenty children) (
FASD is even more prevalent among children in foster care, where an estimated 16.9% of children are affected by an FASD (
Current clinical guidelines for diagnosis and assessment state that “assignment of an FASD diagnosis is a complex medical diagnostic process best accomplished through a structured multidisciplinary approach by a clinical team comprising members with varied but complementary experience, qualifications, and skills” (
This article reviews common developmental trajectories of the neurodevelopmental disorders, including autism, global developmental delay, speech delay, ADHD, intellectual disability, and FASD. After reviewing similarities and differences across the neurodevelopmental disorders and a process for screening for prenatal alcohol exposure, the criteria of neurodevelopmental disorder associated with prenatal alcohol exposure is described as a pathway for practitioners to begin identifying and treating children with suspected FASD.
Literature searches were completed through PubMed for all articles utilizing the search terms of “prenatal alcohol exposure” crossed with “developmental trajectory” and “diagnosis” for the years 2010–2022 in all languages yielded a total of 21 results in PubMed. A more restricted search limited to review articles using the terms “neurodevelopmental disorders crossed with “developmental trajectory” and “diagnosis” for the years 2010–2022 in all languages yielded a total of 773 articles. A total number of 794 articles were subsequently reviewed by title and abstract for relevance to the topic of this article (
Depiction of methodological search of literature.
These results, including citations and references, were reviewed based upon their relevance to the similarities and differences of development among children with an FASD compared to other neurodevelopmental disorders. Additional focused searches were made based upon the need for supporting documentation during the writing of the article.
A structured clinical approach to diagnosis and intervention was synthesized based upon the diagnostic criteria for neurodevelopmental disorder associated with prenatal alcohol exposure (
The category of neurodevelopmental disorders spans developmental challenges that present during early childhood as manifestations of manifold and yet to be clearly defined differences in brain development. Estimated prevalence rates for the neurodevelopmental disorders range from 0.63% to 3% for intellectual disability, 5%–11% for ADHD, 3%–10% for specific learning disorders, 42% for communication disorders, and 0.76%–17% for motor disorders (
Prevalence of common causes of disability (
The pretense of these terms becomes apparent in clinical practice as these disorders manifest many common characteristics and often appear simultaneously with a great overlap of developmental challenges. The wide prevalence estimates given above for each neurodevelopmental disorder further hint at the great overlap among these diagnoses (
The primary challenge in assessing a child with developmental delay becomes one of differentiating a child with autism, FASD, or global developmental delay, from a child with isolated speech delay (communication disorder). Diagnosis often relies upon the pattern of developmental challenges as measured across developmental domains on standardized tests that document function outside of the normal range of development (
Because the diagnosis criteria for ADHD which include impairments in attention and self-regulation (hyperactivity/impulsivity) are often present across most neurodevelopmental disorders, I will focus on this neurodevelopmental disorder last as a diagnosis of exclusion of the four core neurodevelopmental disorders: fetal alcohol spectrum disorders, autism, global developmental delay, and speech/language disorders.
Gessell noted that normal development proceeds in an orderly, timed, and sequential process that occurs with such regularity that it is predictable (
Milestones of normal development.
Evaluation for speech delay is the most common cause of referral for developmental evaluation. The initial task in evaluating speech delay is determining whether this is a case of isolated speech delay (communication disorder), or a neurodevelopmental disorder that spans other domains of development such as autism, global developmental delay, and FASD.
In obtaining a developmental history, initial queries can focus on the temperament of a child including patterns of sleep, ability to be soothed, and activity level. Infant temperament is associated with attachment which is the basis for gains in social interactions and subsequent acquisition of speech and language (
An example of a common developmental trajectory of a child with a neurodevelopmental disorder.
Children with global developmental delay present the clearest example of altered trajectories of development. Pervasive delays across two or more developmental domains of cognitive, adaptive, social-emotional, gross and fine motor, and speech domains characterize the challenges of children with global developmental delay (
Overall prevalence rates for specific language impairment in kindergarten children is estimated to be 7.4% with higher prevalence for boys (8%), compared to girls (6%) (
In contrast to the global delays or isolated speech delays described above, a diagnosis of autism rests upon impairments in social and communication domains along with signs of restricted interests and repetitive behaviors (
It is therefore unsurprising that up to 62.3% of children with global developmental delay also meet diagnostic criteria for autism (
Given the breadth and overlap of the three primary neurodevelopmental disorders highlighted above, how can pediatricians begin to discern children with an FASD from other neurodevelopmental disorders? How can practitioners identify and establish interventions for children living with an FASD in the absence of an FASD multidisciplinary diagnostic center? The DSM-5 diagnostic criteria for neurodevelopmental disorder associated with prenatal alcohol exposure (ND-PAE) provides a straightforward path for practitioners to establish a provisional diagnosis much as pediatricians currently identify children with suspected autism (see
Criteria for neurodevelopmental disorder associated with prenatal alcohol exposure.
Since its inclusion in the DSM-5 as a “condition for further study,” there appears to be strong correlation between the diagnostic categories of FASD and ND-PAE (
A diagnosis of ND-PAE requires: (1) One or more neurocognitive deficits (2) One or more impairments in self-regulation (3) Two or more impairments in adaptive skills, one of which must be communication deficit or impairment in social communication and interaction (4) Documentation of more than minimal prenatal alcohol exposure
Children with FASD range in presentation from global developmental delay, symptoms of autism, isolated speech delay, or isolated early behavioral challenges similar to those seen among children with ADHD (
Middle school developmental challenges of children with FASD.
Developmental challenges of children with FASD: Ages 4–12 years |
---|
• Difficulties with receptive language compared to expressive language (auditory processing); Difficulties with conversation |
• Difficulties in peer interactions (reading non-verbal cues, auditory processing, emotional/behavioral dysregulation, inappropriate interpersonal boundaries) |
• Hyperactive, poor attention, disorganized (often referred for ADHD evaluation by age 3–4 years) |
• Impulsivity, lack of awareness of danger and consequences |
• Learning challenges (learns it then forgets it) |
• Difficulties with tasks of daily living (“you should be able to do this at your age”) |
• Confabulation |
• Aggressive behavior |
• High risk for school suspension or expulsion (as early as kindergarten) |
• Sleep difficulties |
Yet more subtle differences can distinguish FASD from autism. The difficulties in initiating social interaction, sharing affect, and using non-verbal communication common in children with autism are less common in children with FASD who tend to seek out social interaction at the exclusion of awareness of interpersonal boundaries. Similarly, while children with ASD are often referred to as aloof or uninterested in social interaction, children with FASD are more likely to make sustained eye contact, use indicative pointing to show or express interest or direct attention (theory of mind), engage in social interaction (often with an overly social and indiscriminately friendly presence), engage in interactive play and simple conversation, and offer comfort to others (
As noted at the beginning of this article, the prevalence of ADHD ranges from 5%–11% in the general population. ADHD is a neurodevelopmental disorder defined by impaired levels of inattention, disorganization, and/or hyperactivity-impulsivity. These are manifested by inability to stay on task, seeming not to listen, losing materials, being overly active, inability to stay seated or wait, and intruding into other people’s activities at levels that are excessive and inconsistent with age or developmental level (
Children with FASD and ADHD both have challenges in executive function, including working memory, attention, behavioral regulation, and impulse control. Early challenges in executive function (the ability to focus attention, engage in sustained play, have goal-oriented behavior, and regulate emotions across different environments) and social function (the ability to engage in joint attention, exhibit social reciprocity and sharing, and perspective taking) are common to preschool children with FASD and become more apparent with age (
FASD is the most common identifiable cause of secondary morbidities such as intellectual disability, ADHD, anxiety disorders, and learning disabilities (
Identifying impairments in adaptive function is critical to understanding the developmental challenges of children with FASD (
Adaptive function and intellectual disability equivalence.
Individuals with FASD often have normal to borderline cognitive ability (above 70) and frequently fail to meet criteria for intellectual disability or autism leading to assumptions that they can complete tasks “if only they try harder.” Coles et al. have described two subsets of children with alcohol-related neurodevelopmental disorder: one with cognitive impairment, the other with primarily behavioral manifestations. Of note, both children with primarily behavioral manifestations and those with cognitive impairments both scored low on adaptive function (
Evaluations by the school can fail to identify impaired adaptive function in the face of normal to low cognitive ability. This “intellectual disability equivalence” often leads to difficulties in learning, social interactions, and behavior that become increasingly apparent as children move through adolescence (
Barriers to FASD diagnosis include lack of awareness of FASD prevalence, manifestations, and diagnostic criteria and discomfort of professionals in discussing prenatal exposures. In addition, there is a lack of systematic screening for prenatal alcohol exposure by obstetricians, pediatricians, psychiatrists, psychologists, and social workers; lack of a biological marker for diagnosis of FASD; and underreporting of alcohol use during pregnancy due to stigma and fear of repercussions (
When evaluating a child with developmental or behavioral challenges, screening for prenatal alcohol exposure (PAE) is the single most important first step in considering a diagnosis of FASD. Prenatal alcohol exposure alone can be a predictor of child development. A study comparing documented prenatal exposure using the biological marker, meconium ethyl glucuronide, and cognitive deficits and symptoms of ADHD, found a partially dose-dependent relationship to development (
Evaluation can easily incorporate screening as part of obtaining the prenatal and birth history that is routine for most practitioners. The effectiveness of weaving questions for PAE into the prenatal history makes asking questions that are often uncomfortable for both professionals and parents, easier to present as a routine part of information gathering. Below is a simple script practitioners can complete quickly in even the busiest of practices. • How far into your pregnancy did you discover you were pregnant? • Did you have any medical problems during your pregnancy? • Were you prescribed any medications during your pregnancy? • How much alcohol did you use prior to finding out you were pregnant? • How much alcohol did you use after finding out you were pregnant? • What other substances did you use before and after you found out you were pregnant (such as cannabis, opioids, or other non-prescribed medications)?
Note the importance of obtaining a history of alcohol and other substance exposure prior to pregnancy recognition. After obtaining a positive history of alcohol use prior to or after pregnancy recognition, further investigation of alcohol preference (beer, wine, liquor) and the size of a typical drink helps clarify the extent of alcohol-related neurotoxic exposure. Suggested guidelines for significant alcohol exposure have been made (
Screening for PAE is often an iterative process that may require revisitation and in which a parent who may initially deny use of alcohol during pregnancy, later discloses use in the context of a relationship of trust that focuses upon the wellbeing of the child. Even with documented prenatal alcohol exposure, a diagnosis of an FASD is inappropriate until further psychological standardized testing (including testing for adaptive function) and evaluations by early intervention or the school can be completed. The discussion of a diagnosis of FASD with a parent requires patience, frequently starting with interventions before clarifying the suspected etiology of developmental delays. Anticipatory guidance of potential developmental and behavioral challenges and the possible need for additional support in the future builds a working relationship with parents and diminishes the helplessness, guilt, and feeling of aloneness that comes with caring for a child with severe developmental and behavioral difficulties.
The primary reason for any diagnosis is intervention. Diagnosis allows education of caregivers about the disabilities and anticipatory guidance for risks and current or future need for interventions. Diagnosis also allows individuals with FASD to better understand their strengths and weaknesses (“blind spots”). Ideally diagnosis also allows access to disability services. In most cases the subjectivity of a diagnosis rests upon clinical experience and awareness of the importance of diagnosis in obtaining services. Diagnosis also allows a common language for clinicians to discuss developmental challenges in the context of a diagnosis, including framing a prognosis, and providing anticipatory guidance for possible future challenges.
Developmental challenges of adolescents and young adults with FASD.
Developmental challenges of adolescents with an FASD: Ages 13–21 years |
---|
• Increasing gap between chronological age and developmental age, especially in adaptive function (tasks of daily living, maintaining safety, difficulties with managing time and money), “18 going on 10” |
• Difficulties with respective language (auditory processing), reading non-verbal social cues engaging in back-and-forth conversation |
• Difficulties making and keeping friends |
• Poor interpersonal boundaries, sexually inappropriate behavior |
• Gullibility, easily swayed by others to do acts they would not do alone |
• Confabulation, taking possessions of others, stealing |
• High risk for school failure/drop out |
• Parent-child relationship difficulties including increasing use of aggression and destructive behavior in the home |
• Emotional/behavioral dysregulation |
• Increased risk of alcohol and/or substance use |
Vygotsky’s model of the zone of proximal developmental provides a framework for helping parents and teachers greater awareness of developmental challenges and providing services that meet the child at the level of their developmental ability (
Conceptualizing the zone of proximal development.
While children with neurodevelopmental disorders such as speech delay, autism, and intellectual disability have a clear pathway to services, families of children with an FASD often find providers who lack training in caring for children with an FASD. There is an urgent need to establish a community network of service providers familiar with the challenges and interventions to support the development of children with an FASD (
Building community supports.
Perhaps just as important as addressing current developmental needs of a child or adolescent with an FASD, providers should anticipate future challenges as adaptive function falls further behind age-expected abilities. Medications to target symptoms of ADHD, mood dysregulation, anxiety, depression, and sleep issues are common adjuncts to the greater implementation of environmental supports. Essential environmental supports include a calm highly structured environment with consistent routines at both home and at school. Providers often serve as advocates for services beyond school mandates for a least restrictive environment. Interventions should also address educational and vocational needs by highlighting adaptive function disabilities that often exist in the presence of borderline to normal cognitive abilities. Multiple interventions have been documented to specifically address the challenges of children with an FASD while supporting their families (
The transition from adolescence to adulthood is a time fraught with risks for school failure, anti-social or criminal behavior, substance use, victimization, worsening psychiatric illness, unemployment, and homelessness. Anticipation of each of these difficulties allows open discussion with parents who are frequently hesitant to discuss their concerns. Even following diagnosis of FASD, adolescents and adults with FASD remain at extreme risk for adverse outcomes. This risk is compounded by exposure to adverse childhood experiences, especially when these are frequent and enduring. Children with FASD are estimated to be at least 3.7 times more likely to have adverse childhood experiences than children without an FASD (
In addition to poor family support, adaptive difficulties in completing age-expected tasks turn simple tasks (e.g., getting to work or appointments on time, interacting appropriately with others) into insurmountable obstacles without appropriate services. Although adolescents with FASD may appear confident about managing age-appropriate tasks, this apparent self-confidence often masks impairments in adaptive skills and low self-esteem (
General pediatricians and early childcare workers are often the first persons to assess a child with developmental delays. This means they are the gatekeepers for assessment and intervention long before specialists evaluate children. The lack of availability of specialists to diagnose FASD and greater lack of multidisciplinary FASD diagnostic centers, makes identification of children with an FASD in the general population an urgent public health concern. Just as interventions in other neurodevelopmental disorders improve outcomes, early identification and intervention is imperative to supporting children with an FASD. Practitioners can easily screen all children for prenatal alcohol exposure. Similarly, practitioners can begin to diagnose children with developmental delays who have a history of prenatal alcohol exposure and meet the criteria for ND-PAE. While many might argue that a diagnosis of FASD or ND-PAE is less helpful in obtaining services compared to other diagnoses such as autism, the developmental challenges and developmental trajectory of children with FASD are different from those with other neurodevelopmental disorders. Others might argue that the criteria for ND-PAE lack the sensitivity and specificity of traditional FASD diagnostic criteria. Yet traditional requirements for evaluation by a multidisciplinary diagnostic team have failed to identify the majority of children with an FASD and such centers as they currently exist will never be able to meet the demand for diagnostic and intervention services. A diagnosis of FASD offers a structure for discussion of developmental challenges with the family within the context of seeking interventions to maximize independence and prevent secondary morbidities. After 50 years of research that has increased our understanding of the effects of prenatal alcohol exposure upon neurodevelopment, front-line practitioners can use the knowledge gained from research to address the developmental and behavioral challenges of families that come to them seeking help for their children.
The original contributions presented in the study are included in the article/supplementary material, further inquiries can be directed to the corresponding author.
DW conceptualized this project and developed an initial draft. DW and LB shared in the revisions and prepared the final version for submission.
DW previously served on the board of directors of FASD United and currently serves on the Task Force on FASD for the American Academy of Pediatrics. He receives no monetary or other recompense for these services.
The remaining author declares that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
ADHD, attention deficit-hyperactivity disorder; ASD, autism spectrum disorder; FASD, fetal alcohol spectrum disorders; FAS, fetal alcohol syndrome; ND-PAE, neurodevelopmental disorder associated with prenatal alcohol exposure; ODD, oppositional defiant disorder; PAE, prenatal alcohol exposure.