Clinical Diagnosis and Management of Fetal Alcohol Spectrum Disorder and Sensory Processing Disorder in Children.

Fetal alcohol spectrum disorder (FASD) is commonly misdiagnosed because of the complexity of presentation and multiple diagnostic criteria. FASD includes four categorical entities (fetal alcohol syndrome, partial fetal alcohol syndrome, alcohol related neurodevelopmental disorder, and alcohol related birth defects). The four FASD diagnostic criteria are facial dysmorphology, growth deficiency, central nervous system dysfunction, and prenatal alcohol exposure. Sensory processing disorders (SPDs) are common in FASD and are observed as inappropriate behavioral responses to environmental stimuli. These can be either a sensory-based motor disorder, sensory discrimination disorder, or sensory modulation disorder. A child with SPD may experience challenges with their fine motor coordination, gross motor coordination, organizational challenges, or behavioral regulation impairments. FASD requires a multidimensional approach to intervention. Although FASD cannot be cured, symptoms can be managed with sleep-based therapies, sensory integration, and cognitive therapies. This paper reviews SPDs in FASD and the interventions that can be used by practitioners to help improve their therapeutic management, although it is unlikely that any single intervention will be the right choice for all patients.

Growth and behavioral differences in a C57BL/6J mouse model of prenatal alcohol exposure.

BACKGROUND: Prenatal alcohol exposure (PAE) can produce behavioral deficits in the presence or absence of growth and morphological deficits. Here, we describe a murine PAE model having parallels to the clinical diagnosis of alcohol-related neurodevelopmental deficit (ARND). METHODS: Pregnant C57BL/6J mice were gavaged with alcohol (ALC, 3 g/kg) or maltodextrin daily on embryonic days (E) E8.5 through E17.5. Blood alcohol levels were 211 ± 14 mg/dL at 30 min post-gavage. Offspring behavior was tested at adolescence. RESULTS: ALC dams gained less weight during the alcohol exposure period (p = 0.035). ALC male and female pups weighed more than controls at P15 (p ≤ 0.001) and P22 (p ≤ 0.001), but not at P37, perhaps because their dams were pair-housed. During the training session for accelerating rotarod, control offspring trended to stay longer on the rotarod than did ALC offspring [F(1,54) = 2.892, p = 0.095]. In the Y-maze, ALC offspring had a higher percent alternation than did controls [F(1,54) = 16.577, p < 0.001], but activity level did not appear to differ. In the fear-conditioning test, there was no ALC effect in the training trial. In the contextual test, there was a group × minute effect for males [F(4,120) = 2.94, p = 0.023], and ALC trended to freeze less than controls in minute 1 (p = 0.076) and froze less in minute 2 (p = 0.02). In the cue test, there was a trend for a group-sex interaction [F(1,53) = 3.008, p = 0.089] on overall freezing, such that ALC males (p < 0.05) again froze less than control males, whereas ALC females (p < 0.05) froze more than control females. CONCLUSIONS: This mouse model of PAE, using a repeated intermediate exposure, produces modest behavioral impairments that are consistent along the continuum of PAE models, including deficits in associative memory and hyper-responsivity. The lack of growth or morphological deficits suggests these mice may model aspects of ARND.

Fetal Alcohol Spectrum Disorder-Issues of Misdiagnosis and Missed Diagnosis in Black Youth: A Case Report.

Fetal alcohol spectrum disorder (FASD) is an umbrella term used to describe the set of conditions that result from prenatal alcohol exposure (PAE) that lead to cognitive impairment, neurodevelopmental delays, socioemotional and behavioral problems, medical complications, and/or secondary disabilities. In addition, various internalizing and externalizing disorders share similar symptoms with FASD, resulting in misdiagnoses and/or missed diagnosis of FASD. This is amplified for Black youths due to the later onset of referral for assessment and lower frequency of referral to specialty clinics. This clinical case report depicts a misdiagnosis and a missed diagnosis of FASD in a 10-year-old African American patient, who was referred for neuropsychological evaluation. Diagnoses at the time of referral included attention-deficit/hyperactivity disorder (ADHD), oppositional defiant disorder (ODD), and disruptive mood dysregulation disorder (DMDD). Upon completion of a comprehensive evaluation, the patient's diagnoses changed to neurodevelopmental disorder associated with prenatal alcohol exposure, intellectual disability (ID), ADHD, and unspecified depressive disorder, leading to referral to appropriate interventions. The goal of this clinical case report is to increase clinician understanding of FASD and its clinical presentation, inform clinicians about the diagnostic and systemic factors that contribute to misdiagnosis and missed diagnosis of FASD, and to demonstrate the importance of an accurate diagnosis of FASD. By depicting the diagnostic challenges in an African American youth, the authors hope to bring awareness to the racial and ethnic disparities in the diagnosis of neurodevelopmental disabilities, specifically FASD in minority youth.

Altered Resting-State Neural Oscillations and Spectral Power in Children with Fetal Alcohol Spectrum Disorder.

BACKGROUND: Consumption of alcohol during pregnancy impacts fetal development and may lead to a variety of physical, cognitive, and behavioral abnormalities in childhood collectively known as fetal alcohol spectrum disorder (FASD). The FASD spectrum includes children with fetal alcohol syndrome (FAS), partial fetal alcohol syndrome (pFAS), and alcohol-related neurodevelopmental disorder (ARND). Children with a FASD or prenatal alcohol exposure (PAE) have impaired white matter, reduced structural volumes, impaired resting-state functional connectivity when measured with fMRI, and spectral hypersynchrony as infants. Magnetoencephalography (MEG) provides high temporal resolution and good spatial precision for examining spectral power and connectivity patterns unique from fMRI. The impact of PAE on MEG resting-state spectral power in children remains unknown. METHODS: We collected 2 minutes of eyes-open and eyes-closed resting-state data in 51 children (8 to 12 years of age) with 3 subgroups included: 10 ARND/PAE, 15 FAS/pFAS, and 26 controls (TDC). MEG data were collected on the Elekta Neuromag system. The following spectral metrics were compared between subgroups: power, normalized power, half power, 95% power, and Shannon spectral entropy (SSE). MEG spectral data were correlated with behavioral measures. RESULTS: Our results indicate children with FAS/pFAS had reduced spectral power and normalized power, particularly within the alpha frequency band in sensor parietal and source superior parietal and lateral occipital regions, along with elevated half power, 95% power, and SSE. We also found select hemisphere specific effects further indicating reduced corpus callosum connectivity in children with a FASD. Interestingly, while the ARND/PAE subgroup had significant differences from the FAS/pFAS subgroup, in many cases spectral data were not significantly different from TDC. CONCLUSIONS: Our results were consistent with previous studies and provide new insight into resting-state oscillatory differences both between children with FAS and TDC, and within FASD subgroups. Further understanding of these resting-state variations and their impact on cognitive function may help provide early targets for intervention and enhance outcomes for individuals with a FASD.

A review of studies exploring fetal alcohol spectrum disorders through eye tracking measures.

The widespread cognitive and cerebral consequences of prenatal alcohol exposure have been established during the last decades, through the exploration of fetal alcohol spectrum disorders (FASD) using neuropsychological and neuroscience tools. This research field has recently benefited from the emergence of innovative measures, among which eye tracking, allowing a precise measure of the eye movements indexing a large range of cognitive functions. We propose a comprehensive review, based on PRISMA guidelines, of the eye tracking studies performed in populations with FASD. Studies were selected from the PsycINFO, PubMed and Scopus databases, and were evaluated through a standardized methodological quality assessment. Studies were classified according to the eye tracking indexes recorded (saccade characteristics, initial fixation, number of fixations, dwell time, gaze pattern) and the process measured (perception, memory, executive functions). Eye tracking data showed that FASD are mostly associated with impaired ocular perceptive/motor abilities (i.e., altered eye movements, centrally for saccade initiation), lower accuracy as well as increased error rates in saccadic eye movements involving working memory abilities, and reduced inhibitory control on saccades. After identifying the main limitations presented by the reviewed studies, we propose guidelines for future research, underlining the need to increase the standardization of diagnosis and evaluation tools, and to improve the methodological quality of eye tracking measures.

Characterizing Alcohol-Related Neurodevelopmental Disorder: Prenatal Alcohol Exposure and the Spectrum of Outcomes.

BACKGROUND: The effects of prenatal alcohol exposure (PAE) are conceptualized as fetal alcohol spectrum disorder, with fetal alcohol syndrome (FAS) as the most severe. Many find it more difficult to characterize behavioral and cognitive effects of exposure on the central nervous system when physical signs are not present. In the current study, an operational definition of alcohol-related neurodevelopmental disorder (ARND) was examined to determine its usefulness in discrimination of children classified as ARND based on behavior (ARND/B) and cognition (ARND/C) from children in 4 contrast groups: (i) children exposed to study-defined "risky drinking"; (ii) children with any reported PAE; (iii) children classified as "Higher Risk" for developmental problems; and (iv) children classified as "Lower Risk." METHODS: A total of 1,842 children seen as part of a surveillance study (J Am Med Assoc, 319, 2018, 474) were evaluated for alcohol exposure and physical characteristics of FAS, and completed neurodevelopmental testing. Ninety-one were identified as either ARND/B or ARND/C and contrasted with other groups to further identify distinguishing patterns. Multinomial logistic regression (MLR) was used to examine the accuracy of classification and to identify factors contributing to such classification. RESULTS: Children described as ARND/C were distinct from other groups based on cognition and behavior as well as demographic factors (e.g., age, race, SES), child characteristics (e.g., gestational age; sex), and other drug exposures, while those described as ARND/B differed only on behavior and other drug exposures. MLR models successfully discriminated ARND groups from children in other groups with accuracy ranging from 79% (Higher Risk) to 86.7% (Low Risk). CONCLUSIONS: ARND has been a subject of debate. This analysis suggests the effects of alcohol on behavior and cognition even in the absence of the characteristic facial features and growth deficiency that can be identified. The results also indicate that it may be possible to distinguish such children from those in other high-risk groups.

Neurodevelopmental outcomes in individuals with fetal alcohol spectrum disorder (FASD) with and without exposure to neglect: Clinical cohort data from a national FASD diagnostic clinic.

Disentangling the relative developmental impact of prenatal alcohol exposure from postnatal neglect is clinically valuable for informing future service provision. In this study, developmental outcomes across groups are compared in a 'natural experiment'. METHODS: Clinical data from 99 persons with fetal alcohol spectrum disorder (FASD) diagnoses were audited. Developmental outcomes (diagnosis of attention deficit hyperactivity disorder, ADHD; social and communication disorder, SCD; or Autistic Spectrum Disorder, ASD; Short Sensory Profile, SSP; Vineland II Adaptive Behaviour Scales) were compared across two exposure groups: prenatal alcohol only; and mixed prenatal alcohol and neglect. RESULTS: ADHD (74%) and ASD/SCD (68%) were common, with no significant difference between groups (ADHD, p = 0.924; ASD, p = 0.742). Vineland age equivalence scores were lower than chronological age (11.1 years - prenatal alcohol only, and 12.7 years - neglect) across all domains, especially receptive language (3.7 years for both groups). Age equivalence did not differ between groups, with the exception of domestic daily living (neglect: 7.7 years vs. prenatal alcohol only: 5.8 years, p = 0.027). A probable/definite difference on SSP was more common in the prenatal alcohol only (96% vs. 67%, p = 0.006). For the individual subscales of SSP, there were no significant differences by neglect category. DISCUSSION: Postnatal neglect in this group did not make the developmental outcome any worse, suggesting that prenatal alcohol influences these outcomes independently. Professionals who support families looking after a child with both FASD and a history of neglect should be aware that the behavioral difficulties are likely to be related to prenatal alcohol exposure and not necessarily reflective of parenting quality.

Fetal alcohol spectrum disorders: Zebrafish in the analysis of the milder and more prevalent form of the disease.

Fetal Alcohol Spectrum Disorders (FASD) represent a large unmet medical need. Exposure of the developing human embryo to alcohol can lead to life-long suffering. Despite the well documented deleterious effects of alcohol on the developing fetus, pregnant women continue to drink alcohol, and FASD remains the leading cause of preventable mental retardation and other behavioral abnormalities. Particularly prevalent are the milder forms of the disease cluster, representing children who do not show obvious physical signs and who may be undiagnosed or misdiagnosed. To develop treatment and diagnostic tools, researchers have turned to animal models. The zebrafish is becoming one of the leading biomedical research organisms that may facilitate discovery of the biological mechanisms underlying this disease and the identification of biomarkers that may be used for diagnosis. Here we review the latest advances of this field, mostly focussing on the discoveries made in our own laboratory and others with zebrafish employed to analyze the effects of moderate to low level of exposure to alcohol. We argue that the zebrafish represents unique advantages, and adding information obtained with this species to the mix of other animal models will significantly increase translational relevance of animal biomedical research for the analysis of human FASD.

Ten-year experience of fetal alcohol spectrum disorder; diagnostic and resource challenges in Indigenous children.

BACKGROUND: Although fetal alcohol spectrum disorder (FASD) can have a disproportionate impact in some Indigenous communities, there is a paucity of literature on its epidemiology. OBJECTIVE: To characterize the epidemiology of Indigenous individuals under the age of 18 years who were diagnosed with FASD at Anishnawbe Health Toronto over a 10-year period. METHODS: Children who were assessed at Anishnawbe Health Toronto from 2002 to 2012 and met the 2005 criteria for FASD were included. The multidisciplinary team assessed neurodevelopmental abnormalities, FASD facial features and growth parameters and enquired about maternal alcohol consumption, current custody and involvement with the criminal justice system. RESULTS: Forty-nine children were diagnosed with FASD. None of these had full fetal alcohol syndrome (FAS); 12 were diagnosed as partial FAS and 37 with alcohol-related neurodevelopmental disorder (ARND). Thirty-five were male and the median age at diagnosis was 9 years. Nineteen were wards of children's services, and 8 were living with adoptive parents. All children had abnormalities in psychometric testing. Other issues included: behavioural issues (80%); learning disabilities (63%); attention deficit hyperactivity disorder (43%); developmental delay (14%); involvement with the criminal justice system (12%) and alcohol abuse (10%). The morbidity and impairment for ARND was higher on almost every measurement compared with partial FAS. CONCLUSIONS: FASD is a preventable cause of lifelong significant morbidity to Indigenous children with a high proportion of children needing foster-care services and involvement with the criminal justice system at an early age. Although ARND is difficult to diagnose, it can result in significant morbidity. Additional resources for culturally sensitive primary prevention and early diagnosis of FASD for Indigenous families are required.

Commercial Ethyl Glucuronide (EtG) and Ethyl Sulfate (EtS) Testing is Not Vulnerable to Incidental Alcohol Exposure in Pregnant Women.

BACKGROUND: Ethyl Glucoronide (EtG) and Ethyl Sulfate (EtS) have shown promise as biomarkers for alcohol and may be sensitive enough for use with pregnant women in whom even low-level alcohol use is important. However, there have been reports of over-sensitivity of EtG and EtS to incidental exposure to sources such as alcohol-based hand sanitizer. Further, few studies have evaluated these biomarkers among pregnant women, in whom the dynamics of these metabolites may differ. OBJECTIVES: This study evaluated whether commercial EtG-EtS testing was vulnerable to high levels of environmental exposure to alcohol in pregnant women. METHODS: Two separate samples of five nurses-one pregnant and the other postpartum, all of whom reported high levels of alcohol-based hand sanitizer use-provided urine samples before and 4-8 hours after rinsing with alcohol-based mouthwash and using hand sanitizer. The five pregnant nurses provided urine samples before, during, and after an 8-hour nursing shift, during which they repeatedly cleansed with alcohol-based hand sanitizer (mean 33.8 uses). The five postpartum nurses used hand sanitizer repeatedly between baseline and follow-up urine samples. RESULTS: No urine samples were positive for EtG-EtS at baseline or follow-up, despite use of mouthwash and-in the pregnant sample-heavy use of hand sanitizer (mean of 33.8 uses) throughout the 8-hour shift. CONCLUSIONS/IMPORTANCE: Current, commercially available EtG-EtS testing does not appear vulnerable to even heavy exposure to incidental sources of alcohol among pregnant and postpartum women.

Parietal dysfunction during number processing in children with fetal alcohol spectrum disorders.

Number processing deficits are frequently seen in children prenatally exposed to alcohol. Although the parietal lobe, which is known to mediate several key aspects of number processing, has been shown to be structurally impaired in fetal alcohol spectrum disorders (FASD), effects on functional activity in this region during number processing have not previously been investigated. This fMRI study of 49 children examined differences in activation associated with prenatal alcohol exposure in five key parietal regions involved in number processing, using tasks involving simple addition and magnitude comparison. Despite generally similar behavioral performance, in both tasks greater prenatal alcohol exposure was related to less activation in an anterior section of the right horizontal intraparietal sulcus known to mediate mental representation and manipulation of quantity. Children with fetal alcohol syndrome and partial fetal alcohol syndrome appeared to compensate for this deficit by increased activation of the angular gyrus during the magnitude comparison task.

Visual search for feature conjunctions: an fMRI study comparing alcohol-related neurodevelopmental disorder (ARND) to ADHD.

BACKGROUND: Alcohol-related neurodevelopmental disorder (ARND) falls under the umbrella of fetal alcohol spectrum disorder (FASD). Diagnosis of ARND is difficult because individuals do not demonstrate the characteristic facial features associated with fetal alcohol syndrome (FAS). While attentional problems in ARND are similar to those found in attention-deficit/hyperactivity disorder (ADHD), the underlying impairment in attention pathways may be different. METHODS: Functional magnetic resonance imaging (fMRI) and diffusion tensor imaging (DTI) was conducted at 3 T. Sixty-three children aged 10 to 14 years diagnosed with ARND, ADHD, and typically developing (TD) controls performed a single-feature and a feature-conjunction visual search task. RESULTS: Dorsal and ventral attention pathways were activated during both attention tasks in all groups. Significantly greater activation was observed in ARND subjects during a single-feature search as compared to TD and ADHD groups, suggesting ARND subjects require greater neural recruitment to perform this simple task. ARND subjects appear unable to effectively use the very efficient automatic perceptual 'pop-out' mechanism employed by TD and ADHD groups during presentation of the disjunction array. By comparison, activation was lower in ARND compared to TD and ADHD subjects during the more difficult conjunction search task as compared to the single-feature search. Analysis of DTI data using tract-based spatial statistics (TBSS) showed areas of significantly lower fractional anisotropy (FA) and higher mean diffusivity (MD) in the right inferior longitudinal fasciculus (ILF) in ARND compared to TD subjects. Damage to the white matter of the ILF may compromise the ventral attention pathway and may require subjects to use the dorsal attention pathway, which is associated with effortful top-down processing, for tasks that should be automatic. Decreased functional activity in the right temporoparietal junction (TPJ) of ARND subjects may be due to a reduction in the white matter tract's ability to efficiently convey information critical to performance of the attention tasks. CONCLUSIONS: Limited activation patterns in ARND suggest problems in information processing along the ventral frontoparietal attention pathway. Poor integrity of the ILF, which connects the functional components of the ventral attention network, in ARND subjects may contribute to the attention deficits characteristic of the disorder.

Misdiagnosis and missed diagnoses in foster and adopted children with prenatal alcohol exposure.

OBJECTIVE: The purpose of this article is to assess the rate of misdiagnosis and missed diagnoses of fetal alcohol spectrum disorders (FASD) among a population of foster and adopted youth referred to a children's mental health center. METHODS: Data were collected from a sample of 547 children who underwent a comprehensive multidisciplinary diagnostic evaluation. Utilizing current diagnostic criteria, children were diagnosed, as appropriate, with fetal alcohol syndrome, partial fetal alcohol syndrome, alcohol-related neurodevelopmental disorder, or alcohol-related birth defects. Changes in rates of alcohol exposure-related diagnoses and cooccurring mental health disorders pre- and postassessment were analyzed by using McNemar's test for dependent proportions. RESULTS: Among 156 children and adolescents who met criteria for a diagnosis within the fetal alcohol spectrum, 125 had never been diagnosed as affected by prenatal alcohol exposure, a missed diagnosis rate of 80.1%. Of the 31 who had been recognized before referral as affected by prenatal alcohol exposure, 10 children's FASD diagnoses were changed within the spectrum, representing a misdiagnosis rate of 6.4%. The remaining 21 (13.5%) children's diagnoses stayed the same. There also were significant changes in the rate of mental health diagnosis, and learning disorders, communication disorders, and intellectual disability, objective signs of neurocognitive damage, were not recognized in a significant number of children with FASD. CONCLUSIONS: Within this clinical sample, 86.5% of youth with FASD had never been previously diagnosed or had been misdiagnosed. These high rates of missed diagnoses and misdiagnosis have significant implications for intervention and therapeutic services.

Gross motor deficits in children prenatally exposed to alcohol: a meta-analysis.

BACKGROUND AND OBJECTIVES: Gross motor (GM) deficits are often reported in children with prenatal alcohol exposure (PAE), but their prevalence and the domains affected are not clear. The objective of this review was to characterize GM impairment in children with a diagnosis of fetal alcohol spectrum disorder (FASD) or "moderate" to "heavy" maternal alcohol intake. METHODS: A systematic review with meta-analysis was conducted. Medline, Embase, Allied and Complementary Medicine Database, Cumulative Index to Nursing and Allied Health Literature, PsycINFO, PEDro, and Google Scholar databases were searched. Published observational studies including children aged 0 to ≤18 years with (1) an FASD diagnosis or moderate to heavy PAE, or a mother with confirmed alcohol dependency or binge drinking during pregnancy, and (2) GM outcomes obtained by using a standardized assessment tool. Data were extracted regarding participants, exposure, diagnosis, and outcomes by using a standardized protocol. Methodological quality was evaluated by using Strengthening the Reporting of Observational Studies in Epidemiology guidelines. RESULTS: The search recovered 2881 articles of which 14 met the systematic review inclusion criteria. The subjects' mean age ranged from 3 days to 13 years. Study limitations included failure to report cutoffs for impairment, nonstandardized reporting of PAE, and small sample sizes. The meta-analysis pooled results (n = 10) revealed a significant association between a diagnosis of FASD or moderate to heavy PAE and GM impairment (odds ratio: 2.9; 95% confidence interval: 2.1-4.0). GM deficits were found in balance, coordination, and ball skills. There was insufficient data to determine prevalence. CONCLUSIONS: The significant results suggest evaluation of GM proficiency should be a standard component of multidisciplinary FASD diagnostic services.

Choline supplementation in children with fetal alcohol spectrum disorders has high feasibility and tolerability.

There are no biological treatments for fetal alcohol spectrum disorders (FASDs), lifelong conditions associated with physical anomalies, brain damage, and neurocognitive abnormalities. In preclinical studies, choline partially ameliorates memory and learning deficits from prenatal alcohol exposure. This phase I pilot study evaluated the feasibility, tolerability, and potential adverse effects of choline supplementation in children with FASD. We hypothesized that choline would be well tolerated with minimal adverse events. The study design was a double-blind, randomized, placebo-controlled trial. Participants included 20 children aged 2.5 to 4.9 years with prenatal alcohol exposure and FASD diagnoses. Participants were randomly assigned to 500 mg choline or placebo daily for 9 months (10 active, 10 placebo). Primary outcome measures included feasibility, tolerability, adverse effects, and serum choline levels. Seventeen participants completed the study. Compliance was 82% to 87%, as evidenced by parent-completed log sheets and dose counts. Periodic 24-hour dietary recalls showed no evidence of dietary confounding. Adverse events were minimal and were equivalent in the active and placebo arms with the exception of fishy body odor, which occurred only in the active group. There were no serious adverse events to research participants. This phase I pilot study demonstrates that choline supplementation at 500 mg/d for 9 months in children aged 2 to 5 years is feasible and has high tolerability. Further examination of the efficacy of choline supplementation in FASD is currently underway.

Alcohol exposure during development: Impact on the epigenome.

Fetal alcohol spectrum disorders represent a wide range of symptoms associated with in utero alcohol exposure. Animal models of FASD have been useful in determining the specific neurological consequences of developmental alcohol exposure, but the mechanisms of those consequences are unclear. Long-lasting changes to the epigenome are proposed as a mechanism of alcohol-induced teratogenesis in the hippocampus. The current study utilized a three-trimester rodent model of FASD to examine changes to some of the enzymatic regulators of the epigenome in adolescence. Combined pre- and post-natal alcohol exposureresulted in a significant increase in DNA methyltransferase activity (DNMT), without affecting histone deacetylase activity (HDAC). Developmental alcohol exposure also caused a change in gene expression of regulators of the epigenome, in particular, DNMT1, DNMT3a, and methyl CpG binding protein 2 (MeCP2). The modifications of the activity and expression of epigenetic regulators in the hippocampus of rodents perinatally exposed to alcohol suggest that alcohol's impact on the epigenome and its regulators may be one of the underlying mechanisms of alcohol teratogenesis.

Diagnostic nomenclature for foetal alcohol spectrum disorders: the continuing challenge of causality.

Prenatal alcohol exposure is a risk factor for neurologically based cognitive and adaptive disability. Diagnostic nomenclature for prenatally exposed children with cognitive and adaptive disability who lack features for foetal alcohol syndrome (FAS) or partial FAS includes the terms alcohol-related neurodevelopmental disorder (ARND) and foetal alcohol spectrum disorder(s) (FASD). Although these terms are now widely used, this paper argues that both are problematic. ARND is flawed by unjustifiably turning a risk factor into a causal factor and shrouding the result in terminological ambiguity, while FASD is not appropriate as a clinical label, and its use as a proxy for ARND deflects critical attention from the causal inferencing that is integral to diagnosing children with an alcohol-related teratogenic condition. Existing nomenclature is at odds with logical and evidence-based diagnosing and also has implications for interpretation of epidemiological data. Diagnostic nomenclature that is not tightly linked to causal inference is preferable at the present stage of this field's development.