Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B).

OBJECTIVES: Spinocerebellar ataxia 27B due to GAA repeat expansions in the fibroblast growth factor 14 (FGF14) gene has recently been recognized as a common cause of late-onset hereditary cerebellar ataxia. Here we present the first report of this disease in the US population, characterizing its clinical manifestations, disease progression, pathological abnormalities, and response to 4-aminopyridine in a cohort of 102 patients bearing GAA repeat expansions. METHODS: We compiled a series of patients with SCA27B, recruited from 5 academic centers across the United States. Clinical manifestations and patient demographics were collected retrospectively from clinical records in an unblinded approach using a standardized form. Post-mortem analysis was done on 4 brains of patients with genetically confirmed SCA27B. RESULTS: In our cohort of 102 patients with SCA27B, we found that SCA27B was a late-onset (57 ± 12.5 years) slowly progressive ataxia with an episodic component in 51% of patients. Balance and gait impairment were almost always present at disease onset. The principal finding on post-mortem examination of 4 brain specimens was loss of Purkinje neurons that was most severe in the vermis most particularly in the anterior vermis. Similar to European populations, a high percent of patients 21/28 (75%) reported a positive treatment response with 4-aminopyridine. INTERPRETATION: Our study further estimates prevalence and further expands the clinical, imaging and pathological features of SCA27B, while looking at treatment response, disease progression, and survival in patients with this disease. Testing for SCA27B should be considered in all undiagnosed ataxia patients, especially those with episodic onset. ANN NEUROL 2024.

Detection of P. malariae using a new rapid isothermal amplification lateral flow assay.

BACKGROUND: While Plasmodium falciparum and Plasmodium vivax cause the majority of malaria cases and deaths, infection by Plasmodium malariae and other Plasmodium species also causes morbidity and mortality. Current understanding of these infections is limited in part by existing point-of-care diagnostics that fail to differentiate them and have poor sensitivity for low-density infections. Accurate diagnosis currently requires molecular assays performed in well-resourced laboratories. This report describes the development of a P. malariae diagnostic assay that uses rapid, isothermal recombinase polymerase amplification (RPA) and lateral-flow-strip detection. METHODS: Multiple combinations of custom RPA primers and probes were designed using publicly available P. malariae genomic sequences, and by modifying published primer sets. Based on manufacturer RPA reaction conditions (TwistDx nfo kit), an isothermal assay was optimized targeting the multicopy P. malariae 18S rRNA gene with 39 °C incubation and 30-min run time. RPA product was visualized using lateral strips (FAM-labeled, biotinylated amplicon detected by a sandwich immunoassay, visualized using gold nanoparticles). Analytical sensitivity was evaluated using 18S rRNA plasmid DNA, and clinical sensitivity determined using qPCR-confirmed samples collected from Tanzania, Ethiopia, and the Democratic Republic of the Congo. RESULTS: Using 18S rRNA plasmid DNA, the assay demonstrates a detection limit of 10 copies/µL (~ 1.7 genome equivalents) and 100% analytical specificity. Testing in field samples showed 95% clinical sensitivity and 88% specificity compared to qPCR. Total assay time was less than 40 min. CONCLUSION: Combined with simplified DNA extraction methods, the assay has potential for future field-deployable, point-of-care use to detect P. malariae infection, which remains largely undiagnosed but a neglected cause of chronic malaria. The assay provides a rapid, simple readout on a lateral flow strip without the need for expensive laboratory equipment.

Risk factors for recurrence following arthroscopic Bankart repair: a systematic review.

BACKGROUND: Recurrent instability remains a major source of morbidity following arthroscopic Bankart repair. Many risk factors and predictive tools have been described, but there remains a lack of consensus surrounding individual risk factors and their contribution to outcomes. The purpose of this study is to systematically review the literature to identify and quantify risk factors for recurrence following arthroscopic Bankart repair. METHODS: A literature search was performed using the PubMed/MEDLINE databases based on the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines. Studies were included if they evaluated risk factors for recurrent instability following arthroscopic Bankart repair. RESULTS: Overall, 111 studies were included in the analysis, including a total of 19,307 patients and 2750 episodes of recurrent instability with 45 risk factors described. Age at operation was reported by 60 studies, with 35 finding increased risk at younger ages. Meta-analysis showed a 2-fold recurrence rate of 27.0% (171 of 634) for patients <20 years old compared with 13.3% (197 of 1485) for older patients (P < .001). Seventeen studies completed multivariable analysis, 13 of which were significant (odds ratio 1.3-14.0). Glenoid bone loss was evaluated by 39 studies, with 20 finding an increased risk. Multivariable analysis in 9 studies found odds ratios ranging from 0.7 to 35.1; 6 were significant. Off-track Hill-Sachs lesions were evaluated in 21 studies (13 significant), with 3 of 4 studies that conducted multivariable analysis finding a significant association with odds ratio of 2.9-8.9 of recurrence. The number of anchors used in repair was reported by 25 studies, with 4 finding increased risk with fewer anchors. Pooled analysis demonstrated a 25.0% (29 of 156) risk of recurrence with 2 anchors, compared with 18.1% (89 of 491) with 3 or more anchors (P = .06). Other frequently described risk factors included glenohumeral joint hyperlaxity (46% of studies reporting a significant association), number of preoperative dislocations (31%), contact sport participation (20%), competitive sport participation (46%), patient sex (7%), and concomitant superior labral anterior-posterior tear (0%). CONCLUSION: Younger age, glenoid bone loss, and off-track Hill-Sachs lesions are established risk factors for recurrence following arthroscopic Bankart repair. Other commonly reported risk factors included contact and competitive sports participation, number of fixation devices, and patient sex.

Rate adaptive pacing in people with chronic heart failure increases peak heart rate but not peak exercise capacity: a systematic review.

Rate adaptive cardiac pacing (RAP) allows increased heart rate (HR) in response to metabolic demand in people with implantable electronic cardiac devices (IECD). The aim of this work was to conduct a systematic review to determine if RAP increases peak exercise capacity (peak VO2) in line with peak HR in people with chronic heart failure. We conducted a systematic literature search from 1980, when IECD and RAP were first introduced, until 31 July 2021. Databases searched include PubMed, Medline, EMBASE, EBSCO, and the Clinical Trials Register. A comprehensive search of the literature produced a total of 246 possible studies; of these, 14 studies were included. Studies and subsequent analyses were segregated according to comparison, specifically standard RAP (RAPON) vs fixed rate pacing (RAPOFF), and tailored RAP (TLD RAPON) vs standard RAP (RAPON). Pooled analyses were conducted for peak VO2 and peak HR for RAPON vs RAPOFF. Peak HR significantly increased by 15 bpm with RAPON compared to RAPOFF (95%CI, 7.98-21.97, P < 0.0001). There was no significant difference between pacing mode for peak VO2 0.45 ml kg-1 min-1 (95%CI, - 0.55-1.47, P = 0.38). This systematic review revealed RAP increased peak HR in people with CHF; however, there was no concomitant improvement in peak VO2. Rather RAP may provide benefits at submaximal intensities by controlling the rise in HR to optimise cardiac output at lower workloads. HR may be an important outcome of CHF management, reflecting myocardial efficiency.

Federal legal and regulatory aspects of contingency management incentives.

OBJECTIVE: Incentives are an integral part of Contingency Management (CM) Programs for substance use disorder treatment, primarily for the treatment stimulant use disorders, but because stimulant use often co-occurs with opioid use, the Substance Abuse and Mental Health Services Administration (SAMHSA) permits the use of CM incentives as a part of its State Opioid Response grant program. However, incentives implicate federal laws and could result in either financial penalties or criminal sanctions against programs that use them. METHODS: The U.S. Department of Health and Human Services Office of Inspector General (OIG) is tasked with enforcing key federal laws that address the issues of kick-backs, inducements, and false claims. By looking at these laws and regulations, this paper seeks to create a clearer understanding of the the barriers providers face when utilizing CM, as well as the guardrails that can be put in place to alleviate those barriers. RESULTS: This paper distills key concerns raised by the OIG and suggests critical guardrails that militate against fraud, waste and abuse. CONCLUSION: Following the recommended guardrails should allow providers to employ CM strategies to help their patients by making clear that the intent is to help patients without engaging in kickbacks, illegal inducements or false claims.

The fourth wave of the overdose crisis: Examining the prominent role of psychomotor stimulants with and without fentanyl.

The current overdose and broader public health crisis involving illicit drug use is often referred to as the "opioid" or "fentanyl" crisis. Clearly there is extensive data on the profound damage done by opioids over the past 20 years and specifically by fentanyl in the past 5 years. However, there is an extensive array of data that suggests there is more to the current crisis than opioids/fentanyl. Much recent evidence indicates that methamphetamine and cocaine are playing a substantial and increasing role in the illicit drug crisis in the US-the 4th wave. This paper reviews data that illustrate the role of psychomotor stimulants in fatal overdoses, nonfatal overdoses, and emergency department visits. Despite the major detrimental role that stimulants are having on the public health in the US in 2023, there is virtually no evidence-based treatment available in practice for people with stimulant use disorder (StimUD). Although there are no medications with FDA-approval for the treatment of StimUD, there is a behavioral treatment, contingency management (CM), with over 3 decades of robust research supporting its efficacy for individuals with StimUD. Despite the overwhelming evidence supporting CM, it is not being widely used in routine treatment outside the VA healthcare system. This paper reviews some of the (a) evidence for CM, (b) CM protocol design elements that require consideration, (c) current obstacles to the widespread implementation of CM, and (d) strategies for addressing these obstacles. Overcoming these obstacles is a priority to allow routine use of CM as a treatment for StimUD.

Recovery incentives program: California's contingency management benefit.

OBJECTIVE: The role of methamphetamine and cocaine use in California's drug poisoning (overdose) crisis has dramatically increased in the past five (5) years and has disproportionately affected American Indian, Alaska Native, and Black Californians. No FDA-approved medications currently exist for the treatment of individuals with stimulant use disorder (StimUD). Outside the Veteran's Administration, the Recovery Incentives Program: California's Contingency Management Benefit is the first large scale implementation of contingency management (CM). CM is the behavioral treatment with the most evidence and largest effect sizes for StimUD. METHODS: The Program uses a CM protocol where participants can receive a maximum of $599 over a six-month period, contingent upon 36 stimulant-negative urine test results. Urine tests are conducted using a set of approved, CLIA-waived, point-of-care urine drug tests (UDTs). To ensure fidelity to the CM protocol and to prevent fraud, waste, and abuse, all aspects of incentive accounting and distribution are managed electronically via a custom-developed software system. Incentive distribution utilizes electronic gift cards. A significant innovation of the project is the conceptualization of the CM Coordinator, a designated and highly trained and supervised individual responsible for all aspects of CM operation in a specific site. RESULTS AND CONCLUSIONS: The California Department of Health Care Services contracted with UCLA to develop and implement a robust evaluation of the Program; goals include evaluating the effectiveness of real-world implementation and facilitating quality improvement. The project will likely significantly impact the use of CM for StimUD nationally and may well reduce stimulant-related drug poisoning deaths.

The urgent need for contingency management among Tribal communities in the United States: Considerations for implementation, policy, and sovereignty.

In two randomized controlled trials, culturally adapted contingency management (i.e., incentives provided for substance-negative urine samples) was associated with reduced alcohol and drug use among geographically diverse American Indian and Alaska Native (AI/AN) adults. In response to interest in contingency management from other Tribal and AI/AN communities, our research team in collaboration with AI/AN behavioral health experts, translated the research into practice with new AI/AN community partners. Tenets of community-based participatory research were applied to develop, pilot, and refine contingency management training and implementation tools, and identify implementation challenges. In partnership with the AI/AN communities, four members of the university team developed tools and identified implementation and policy strategies to increase the successful uptake of contingency management in each location. Through our collaborative work, we identified policy barriers including inadequate federal funding of contingency management incentives and a need for further clarity regarding federal anti-kickback regulations. Adoption of contingency management is feasible and can strengthen Tribal communities' capacity to deliver evidence-based substance use disorder treatments to AI/AN people. Unfortunately, non-evidence-based limits to the use of federal funding for contingency management incentives discriminate against AI/AN communities. We recommend specific federal policy reforms, as well as other practical solutions for Tribal communities interested in contingency management.

Systematic Review: Polysubstance Prevalence Estimates Reported during Pregnancy, US, 2009-2020.

INTRODUCTION: The objective of this systematic review is to describe polysubstance studies and their prevalence estimates among pregnant people in the US. METHODS: This review was not subject to protocol preparation or registration with the International Prospective Register of Systematic Reviews (PROSPERO) because outcome data were not reported. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) Checklist was followed. Four scientific literature databases were used to identify articles published from January 1, 2009 to June 3, 2020 reporting prenatal exposure to two or more substances in the US. A standardized process of title and abstract screening followed by a two-phase full-text review was used to assess study eligibility. RESULTS: A total of 119 studies were included: 7 case-control studies, 7 clinical trials, 76 cohort studies, and 29 cross-sectional studies. Studies varied with respect to study design, time period, region, sampling and participant selection, substances assessed, and method of exposure ascertainment. Commonly reported polysubstance prevalence estimates among studies of pregnant people included combinations with alcohol, marijuana, and/or tobacco/nicotine. The range of prevalence estimates was wide (alcohol 1-99%; marijuana 3-95%; tobacco/nicotine 2-95%). DISCUSSION: Polysubstance use during pregnancy is common, especially with alcohol, marijuana, and/or tobacco/nicotine. Future research to assess polysubstance use during pregnancy could help better describe patterns and ultimately help mitigate its effects on maternal and infant health outcomes.

Screening and Brief Interventions for Alcohol Use During Pregnancy: Practices Among US Primary Care Clinicians, DocStyles 2019.

INTRODUCTION: Alcohol use during pregnancy can cause birth defects and developmental disabilities. From 2018 through 2020, 13.5% of pregnant women reported current drinking. The US Preventive Services Task Force recommends evidence-based tools (eg, AUDIT-C and SASQ) for implementing screening and brief interventions to reduce excessive alcohol use among adults, including pregnant people, for whom any alcohol use is considered excessive. METHODS: We used DocStyles 2019 data to conduct a cross-sectional analysis to examine current screening and brief intervention practices that primary care clinicians conduct among pregnant patients; clinicians' confidence levels in conducting screening, brief interventions, and referral to treatment; and the documentation of brief interventions in the medical record. RESULTS: A total of 1,500 US adult medicine clinicians completed the entire survey. Among the respondents who conduct screening (N = 1,373) and brief interventions (N = 1,357) in their practice, nearly all reported implementing screening (94.6%) and brief interventions (94.9%) with their pregnant patients for alcohol use, but fewer than half felt confident about conducting their screening practices (46.5%). Two-thirds (64%) reported using a tool that met the criteria recommended by the US Preventive Services Task Force (USPSTF). Over half documented brief interventions in electronic health record notes (51.7%) or designated space (50.7%). CONCLUSION: Pregnancy presents a unique opportunity for clinicians to incorporate screening into routine obstetric care and encourage behavior change among patients. Most providers reported always screening their pregnant patients for alcohol use, but fewer used evidence-based USPSTF-recommended screening tools. Increased clinician confidence in screening and brief intervention, the use of standardized screening tools tailored to pregnant people, and maximal use of electronic health record technology may enhance the benefits of their application to alcohol use, which ultimately can reduce adverse outcomes associated with alcohol use during pregnancy.

Patterns of CAG repeat instability in the central nervous system and periphery in Huntington's disease and in spinocerebellar ataxia type 1.

The expanded HTT CAG repeat causing Huntington's disease (HD) exhibits somatic expansion proposed to drive the rate of disease onset by eliciting a pathological process that ultimately claims vulnerable cells. To gain insight into somatic expansion in humans, we performed comprehensive quantitative analyses of CAG expansion in ~50 central nervous system (CNS) and peripheral postmortem tissues from seven adult-onset and one juvenile-onset HD individual. We also assessed ATXN1 CAG repeat expansion in brain regions of an individual with a neurologically and pathologically distinct repeat expansion disorder, spinocerebellar ataxia type 1 (SCA1). Our findings reveal similar profiles of tissue instability in all HD individuals, which, notably, were also apparent in the SCA1 individual. CAG expansion was observed in all tissues, but to different degrees, with multiple cortical regions and neostriatum tending to have the greatest instability in the CNS, and liver in the periphery. These patterns indicate different propensities for CAG expansion contributed by disease locus-independent trans-factors and demonstrate that expansion per se is not sufficient to cause cell type or disease-specific pathology. Rather, pathology may reflect distinct toxic processes triggered by different repeat lengths across cell types and diseases. We also find that the HTT CAG length-dependent expansion propensity of an individual is reflected in all tissues and in cerebrospinal fluid. Our data indicate that peripheral cells may be a useful source to measure CAG expansion in biomarker assays for therapeutic efforts, prompting efforts to dissect underlying mechanisms of expansion that may differ between the brain and periphery.

SCA8 RAN polySer protein preferentially accumulates in white matter regions and is regulated by eIF3F.

Spinocerebellar ataxia type 8 (SCA8) is caused by a bidirectionally transcribed CTG·CAG expansion that results in the in vivo accumulation of CUG RNA foci, an ATG-initiated polyGln and a polyAla protein expressed by repeat-associated non-ATG (RAN) translation. Although RAN proteins have been reported in a growing number of diseases, the mechanisms and role of RAN translation in disease are poorly understood. We report a novel toxic SCA8 polySer protein which accumulates in white matter (WM) regions as aggregates that increase with age and disease severity. WM regions with polySer aggregates show demyelination and axonal degeneration in SCA8 human and mouse brains. Additionally, knockdown of the eukaryotic translation initiation factor eIF3F in cells reduces steady-state levels of SCA8 polySer and other RAN proteins. Taken together, these data show polySer and WM abnormalities contribute to SCA8 and identify eIF3F as a novel modulator of RAN protein accumulation.

Polyglutamine spinocerebellar ataxias - from genes to potential treatments.

The dominantly inherited spinocerebellar ataxias (SCAs) are a large and diverse group of neurodegenerative diseases. The most prevalent SCAs (SCA1, SCA2, SCA3, SCA6 and SCA7) are caused by expansion of a glutamine-encoding CAG repeat in the affected gene. These SCAs represent a substantial portion of the polyglutamine neurodegenerative disorders and provide insight into this class of diseases as a whole. Recent years have seen considerable progress in deciphering the clinical, pathological, physiological and molecular aspects of the polyglutamine SCAs, with these advances establishing a solid base from which to pursue potential therapeutic approaches.

Alcohol Consumption and Binge Drinking During Pregnancy Among Adults Aged 18-49 Years - United States, 2018-2020.

There is no known safe amount of alcohol consumption during pregnancy; drinking alcohol during pregnancy can cause fetal alcohol spectrum disorders and might increase the risk for miscarriage and stillbirth (1). The prevalence of drinking among pregnant women increased slightly during 2011-2018; however, more recent estimates are not yet reported (2). CDC estimated the prevalence of self-reported current drinking (at least one alcoholic drink in the past 30 days) and binge drinking (consuming four or more drinks on at least one occasion in the past 30 days) among pregnant adults aged 18-49 years, overall and by selected characteristics, using 2018-2020 Behavioral Risk Factor Surveillance System (BRFSS) data. During 2018-2020, 13.5% of pregnant adults reported current drinking and 5.2% reported binge drinking: both measures were 2 percentage points higher than during 2015-2017. Pregnant adults with frequent mental distress were 2.3 and 3.4 times as likely to report current and binge drinking, respectively, compared with those without frequent mental distress. In addition, pregnant adults without a usual health care provider were 1.7 times as likely to report current drinking as were those with a current provider. Alcohol consumption during pregnancy continues to be a serious problem. Integration of mental health services into clinical care and improving access to care might help address alcohol consumption and mental distress during pregnancy to prevent associated adverse outcomes (3).

Outcomes to measure the effects of pharmacological interventions for pain management for women during labour and birth: a review of systematic reviews and randomised trials.

BACKGROUND: Pharmacological pain management options can relieve women's pain during labour and birth. Trials of these interventions have used a wide variety of outcomes, complicating meaningful comparisons of their effects. To facilitate better assessment of the effectiveness of labour pain management in trials and meta-analyses, consensus about key outcomes and the development of a core outcome set is essential. OBJECTIVE: To identify all outcomes used in studies of pharmacological pain management interventions during labour and birth. DESIGN: A review of systematic reviews and their included randomised controlled trials was undertaken. SEARCH STRATEGY: Cochrane CENTRAL was searched to identify all Cochrane systematic reviews describing pharmacological pain management options for labour and birth. Search terms included 'pain management', 'labour' and variants, with no limits on year of publication or language. SELECTION CRITERIA: Cochrane reviews and randomised controlled trials contained within these reviews were included, provided they compared a pharmacological intervention with other pain management options, placebo or no treatment. DATA COLLECTION AND ANALYSIS: All outcomes reported by reviews or trials were extracted and tabulated, with frequencies of individual outcomes reported. MAIN RESULTS: Nine Cochrane reviews and 227 unique trials were included. In total, 146 unique outcomes were identified and categorised into maternal, fetal, neonatal, child, health service, provider's perspective or economic outcome domains. CONCLUSIONS: Outcomes of pharmacological pain management interventions during labour and birth vary widely between trials. The standardisation of trial outcomes would permit the assessment of meta-analyses for best clinical practice. TWEETABLE ABSTRACT: Outcomes to measure pharmacological pain management options during labour are highly variable and require standardisation.

An interprofessional clinic for adults with Turner syndrome: the patient perspective.

OBJECTIVES: This qualitative study assessed the value of a primary care-based interprofessional clinical team for adults with Turner syndrome (TS) utilizing patient perspectives. METHODS: Ten patients within one institution's interprofessional adult TS clinic participated in one of two semi-structured focus groups. Content analysis was used to classify content provided by participants into themes and sub-themes using Dedoose software. RESULTS: Participants found that their quality of care and life were both improved due to the presence of the interprofessional Adults with TS Clinic. Specifically, participants reported that the clinic helped address problems with finding knowledgeable providers and care gaps, made appointments more convenient and improved interprofessional communication. Participants also reported that the clinic helped them find a sense of community and increased personal confidence. Study participants suggested improvements to the clinic by expanding the scope of practice further, simplifying processes to schedule appointments, and potentially creating interprofessional clinics for other rare diseases as well. CONCLUSION: Pursuing avenues to create interprofessional clinics for adults with rare diseases has value from the patient perspective. This value can translate to improved patient outcomes through improvements in patient knowledge of their diagnosis, adherence to evidence-based care and quality of life.

Alcohol Use and Co-Use of Other Substances Among Pregnant Females Aged 12-44 Years - United States, 2015-2018.

Drinking alcohol during pregnancy can cause fetal alcohol spectrum disorders, including birth defects, behavioral disorders, and impaired cognitive development (1). Little is known about the co-use of other substances by females who drink during pregnancy. CDC used 2015-2018 data from the National Survey on Drug Use and Health (NSDUH) to estimate the overall and trimester-specific prevalence of self-reported drinking in the past 12 months, current drinking, and binge drinking, overall and by trimester, and the co-use of other substances among pregnant females aged 12-44 years. Past drinking (12 months) was reported by 64.7% of pregnant respondents. Current drinking (at least one drink in the past 30 days) was reported by 19.6% of respondents who were in their first trimester of pregnancy and 4.7% of respondents who were in their second or third trimester. Binge drinking (consuming four or more drinks on at least one occasion in the past 30 days) was reported by 10.5% of first trimester respondents and 1.4% of second or third trimester respondents. Overall, 38.2% of pregnant respondents who reported current drinking also reported current use of one or more other substances. The substances used most with alcohol were tobacco and marijuana. Self-reported drinking prevalence was substantially lower among second or third trimester respondents than among first trimester respondents. The American College of Obstetricians and Gynecologists (ACOG) recommends alcohol use and substance use disorders screening for all females seeking obstetric-gynecologic care and counseling patients that there is no known safe level of alcohol use during pregnancy (2).

Consumption of Alcohol Beverages and Binge Drinking Among Pregnant Women Aged 18-44 Years - United States, 2015-2017.

Drinking alcohol during pregnancy can cause fetal alcohol spectrum disorders (FASDs), including birth defects that involve central nervous system impairment, behavioral disorders, and impaired intellectual development, which can lead to difficulties with school and employment. A recent study in four U.S. communities found a 1.1%-5.0% prevalence of FASDs among first-grade students (1). Drinking during pregnancy might also be a risk factor for other adverse pregnancy and birth outcomes, including miscarriage and stillbirth (2). CDC estimated the prevalence of self-reported current drinking (at least one alcohol drink in the past 30 days) and binge drinking (consuming four or more drinks on at least one occasion in the past 30 days) among pregnant women aged 18-44 years, using 2015-2017 data from the Behavioral Risk Factor Surveillance System (BRFSS). Current drinking and binge drinking in the past 30 days were reported by 11.5% and 3.9% of pregnant women, respectively. Among pregnant women who binge drink, the average frequency of binge drinking in the past 30 days was 4.5 episodes, and the average intensity of binge drinking (the average largest number of drinks reported consumed on any occasion among binge drinkers) was 6.0 drinks. Increased implementation of evidence-based community-level and clinic-level interventions, such as universal alcohol screening and brief counseling in primary and prenatal care, could decrease the prevalence of drinking during pregnancy, which might ultimately reduce the prevalence of FASDs and other adverse pregnancy and birth outcomes.

Are Low-to-Moderate Average Alcohol Consumption and Isolated Episodes of Binge Drinking in Early Pregnancy Associated with Facial Features Related to Fetal Alcohol Syndrome in 5-Year-Old Children?

BACKGROUND: Fetal alcohol syndrome (FAS) typically is observed among individuals with high prenatal alcohol exposures (PAE), but exposure histories obtained in clinical diagnostic settings are often inaccurate. The present analysis used the Lifestyle During Pregnancy Study (LDPS) to assess the potential effects of low-to-moderate average weekly alcohol consumption and binge drinking in early pregnancy on facial features associated with FAS among children 5 years of age. METHODS: The analysis is a prospective follow-up study of 670 women and their children sampled from the LDPS cohort based on maternal alcohol consumption during pregnancy. The 4-Digit Code FAS Facial Photographic Analysis Software was used to measure the magnitude of expression of the 3 diagnostic facial features of FAS from standardized digital photographs. Logistic regression was used to estimate the odds of presenting with the FAS/partial fetal alcohol syndrome (PFAS) facial phenotypes relative to different patterns of prenatal alcohol exposure. RESULTS: Ten children presented with the FAS/PFAS facial phenotypes. None of the children sampled met the central nervous system (CNS) criteria for FAS or PFAS at age 5 years. All remained at risk for PFAS since some types of CNS dysfunction associated with this diagnosis may only be assessed at older ages. The FAS/PFAS facial phenotypes were 8.5-fold more likely among children exposed to an average of 1 to 4 drinks/wk and 2.5-fold more likely among children with a single binge exposure in gestational weeks 3 to 4 compared to children with no such exposures. The magnitude of expression of the FAS facial phenotype was significantly correlated with all other diagnostic features of FAS: growth deficiency, microcephaly, and measures of CNS dysfunction. CONCLUSIONS: These findings suggest that low-to-moderate levels of PAE or isolated binge exposures may place some fetuses at risk for FAS/PFAS. Thus, conservative advice is still for women to abstain from alcohol consumption during pregnancy.