Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Fetal Alcohol Spectrum Disorders”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 19 recordsLinked to original sources
PubMed2001

Identifying maternal self-reported alcohol use associated with fetal alcohol spectrum disorders.

BACKGROUND: The incidence of Fetal Alcohol Syndrome (FAS) has been estimated at 1 to 3 per 1,000 live births. Fetal Alcohol Spectrum Disorders (FASD) (which include FAS) are estimated to occur in about 1 in 100 births. Cessation of drinking during pregnancy can improve the outcome even if the unborn child is already affected. For individuals born with FASD, an early diagnosis appears to be a protective factor against secondary disabilities. A quick screening tool to identify newborn children at risk has been elusive. METHODS: A simple descriptive presentation is offered that shows where 36 individuals with FASD were found from among the many patterns and amounts of prenatal alcohol use that were reported by a sample of 1,439 pregnant women whose offspring were later examined within the first 7 years of life. RESULTS: Individuals with FASD (i.e., those with FAS, fetal alcohol effects, alcohol-related neurodevelopmental disorder ) were found within two aggregates of alcohol scores that together recommend a set of three to four alcohol questions. Within this derivation sample, one scoring of the questions yields almost 78% sensitivity and 97% specificity for FASD. Another scoring of the same instrument yields 100% sensitivity with 90% specificity. CONCLUSIONS: These new data may facilitate early identification of offspring who may be most in need of early intervention, namely those born with FASD.

Adolescent↗
PubMed2002

Clinical implications of a link between fetal alcohol spectrum disorder and attention-deficit hyperactivity disorder.

OBJECTIVE: To provide an overview of the animal and human research literature on the link between fetal alcohol spectrum disorder (FASD) and attention-deficit hyperactivity disorder (ADHD). METHOD: We conducted a comprehensive literature review that addressed the history of, and current research on, fetal alcohol syndrome (FAS) and FASD, as well as that on ADHD in children. RESULTS: In animal and human research, there is emerging clinical, neuropsychological, and neurochemical evidence of a link between FASD and ADHD. CONCLUSIONS: The evidence of the link between these 2 conditions has implications for clinical management. The clinical quality of ADHD in children with FASD often differs from that of children without FASD. For children with FASD, ADHD is more likely to be the earlier-onset, inattention subtype, with comorbid developmental, psychiatric, and medical conditions. Children with FASD are commonly not mentally retarded but present complex learning disabilities, especially a mixed receptive-expressive language disorder with deficits in social cognition and communication (reminiscent of sensory aphasia and apraxia), working memory problems, and frequently, a mathematics disorder. Comorbid psychiatric conditions include anxiety, mood, conduct, or explosive disorders. As well, cardiac, renal, or skeletal problems are more likely to be present. Because these children have a disturbance in brain neurochemistry, or even brain structure (that is, in the corpus callosum), their response to standard psychostimulant medication can be quite unpredictable.

Animals↗
PubMed2000

Neuropsychiatric implications and long-term consequences of fetal alcohol spectrum disorders.

Prenatal alcohol exposure can cause a whole spectrum of central nervous system (CNS) sequelae that persist throughout the life span and manifest in a spectrum of effects from clinically indistinguishable to severely impairing. The greatest impact of alcohol as a teratogen is to the brain-the greatest need is for holistic treatment and management of the associated mental disorders. The interaction of this subtle brain damage with the complex psychosocial circumstances surrounding the birth of a child to a mother with alcohol problems can further compound development and result in costly and devastating social consequences. Research is urgently needed on the chronic neuropsychiatric sequelae of these subtle birth defects of the brain. Identification of these fetal alcohol spectrum disorders (FASD) in the psychiatric nomenclature is a necessary step to focus the attention and resources of the mental health field on this personally and socially significant problem.

Adult↗
PubMed2025

Discovery of a DNA methylation episignature as a molecular biomarker for fetal alcohol syndrome.

PURPOSE: Fetal alcohol spectrum disorder (FASD) encompasses a range of clinical features and neurodevelopmental disorders in children exposed to alcohol in utero. Despite its global public health significance, FASD diagnosis remains challenging because of nonspecific clinical findings and the lack of an accurate molecular diagnostic biomarker. This study aimed to evaluate peripheral blood DNA methylation (DNAm) profiles as a potential diagnostic biomarker for fetal alcohol syndrome. METHODS: Genomic DNAm profiles from 93 individuals with suspected or confirmed FAS, including a clinically diagnosed FAS subgroup, were analyzed and compared with a large database of control and patient cohorts with previously reported DNAm episignatures. Functional analysis of these DNAm profiles was performed to identify episignatures and assess their potential diagnostic utility. RESULTS: A relatively sensitive and specific DNAm episignature for FAS was identified. Comparative epigenomic analysis revealed functional correlations between FAS and other rare genetic disorders, supporting the robustness of the identified DNAm profiles as a diagnostic tool. CONCLUSION: This study demonstrates that unique DNAm profiles provide a robust episignature biomarker for FAS. These findings contribute to the molecular understanding of FAS and hold promise for improving diagnostic accuracy for this complex disorder.

Humans↗
PubMed1994

Alcohol, marijuana, and tobacco: effects of prenatal exposure on offspring growth and morphology at age six.

Little is known about the long-term effects of prenatal exposure to alcohol. There are even fewer reports on the longitudinal effects of exposure to either marijuana or tobacco during pregnancy. This study is on the 6-year follow-up of 668 children enrolled in the Maternal Health Practices and Child Development Project. Mothers were interviewed at the 4th and 7th months of pregnancy, and mothers and children were evaluated at delivery, 8, and 18 months, and 3 and 6 years postpartum. At 6 years of age, children who were exposed to alcohol prenatally were significantly smaller in weight, height, head circumference, and palpebral fissure width. These effects on size were mediated by the effect of prenatal alcohol exposure on the offspring at 8 months. Prenatal alcohol exposure was also significantly associated with maternal reports of the child's appetite at 6 years. There were no effects of prenatal marijuana or tobacco exposure on growth when the children were age 6. There were also no significant relationships between prenatal exposure to alcohol, marijuana, or tobacco and the rate of morphologic anomalies, including the features of the fetal alcohol syndrome.

Alcohol Drinking↗
PubMed1999

Under-recognition of prenatal alcohol effects in infants of known alcohol abusing women.

Medical records of 124 women and their infants were analyzed for: (1) documentation of maternal alcohol and other substance abuse and (2) evaluation of exposed infants. These results were compared with the study interview and infant examination. More obstetric nurses documented the presence or absence of alcohol and substance abuse than did pediatricians. More women reported using alcohol in the study interview than documented in the medical records. There was slightly better documentation for cocaine use than for alcohol use in the medical records. One of the 19 infants with documentation of maternal alcohol use was noted to have possible alcohol-related features by the pediatrician, in contrast to 7 infants identified by the study examiner. In addition, 2 of these 19 infants were determined by the study examiner to have fetal alcohol syndrome; neither case was diagnosed by the pediatricians. Continued efforts at education regarding the importance of asking about prenatal alcohol exposure and the spectrum of fetal alcohol effects are needed for early diagnosis.

Alcoholism↗
PubMed1998

Mental illness in adults with fetal alcohol syndrome or fetal alcohol effects.

OBJECTIVE: The authors' goal was to use structured clinical interviews to characterize the type and frequency of mental illness in adults with fetal alcohol syndrome or fetal alcohol effects. METHOD: Twenty-five subjects who met criteria for fetal alcohol syndrome or fetal alcohol effects, who were older than 18 years old, and who had an IQ of greater than 70 were interviewed with the Structured Clinical Interview for DSM-IV Axis I Disorders and the Structured Clinical Interview for DSM-III-R Personality Disorders. RESULTS: Eighteen of the 25 subjects had received psychiatric treatment. The most common axis I disorders were alcohol or drug dependence (15 subjects), depression (11 subjects), and psychotic disorders (10 subjects). The most common axis II disorders were avoidant (six subjects), antisocial (four subjects), and dependent (three subjects) personality disorders. CONCLUSIONS: This study suggests that adults with fetal alcohol syndrome or fetal alcohol effects suffer from substantial mental illness.

Adult↗
PubMed2026

Prenatal Alcohol Exposure Produces Selective Changes in Neuroimmune Gene Expression Across Brain Regions of Adult Mice.

BACKGROUND: An overwhelming body of evidence suggests neuroimmune dysfunction as a key underlying mechanism of fetal alcohol spectrum disorder (FASD)-associated adverse central nervous system (CNS) outcomes. While few studies have highlighted the lingering effects of prenatal alcohol exposure (PAE) on producing specific immune factors, others suggest a primed neuroimmune state in adulthood, in which a proinflammatory bias is unmasked following subsequent immune activation in later life. However, the PAE-induced neuroimmune landscape in adulthood remains poorly defined. We hypothesized that PAE induces long-term changes in gene expression linked to neuroimmune function that may be brain region-specific. METHODS: Using long-read next-generation RNA sequencing of brain tissues from a previously established model of a moderate PAE in mice, we compared across six regions: medial prefrontal cortex (mPFC), anterior cingulate cortex (ACC), hypothalamus, hippocampus, midbrain, and medulla. A comprehensive bioinformatics analysis investigated PAE-induced changes, dysregulated gene pathways, and transcriptional regulators with a focus on neuroimmune function. RESULTS: Our data identified at least 60 differentially expressed genes per brain region, many of which were associated with neuroimmune function. Upregulation of multiple pro-inflammatory factors and pathways was observed, suggesting ongoing baseline neuroimmune activation, potentially involving PXR, TNF, TLR4, the complement pathway, and various cytokine and chemokine signaling. A comparative analysis identified multiple upstream transcriptional regulators across multiple brain regions, including MECP2, TCF7L2, and IL-4. Importantly, this unbiased analysis revealed heterogeneity across brain regions in the activation of canonical immune pathways and highlighted previously unprecedented roles of pathways such as PXR, matrix metalloproteases, and cytokine signaling (e.g., IL-15, IL-27, IL-17) in PAE. CONCLUSIONS: PAE creates a unique inflammatory signature in the adult brain, even in the absence of secondary injury, with novel patterns of region-specific changes in genes implicated in glial-immune function. These data identify potential immune targets to elucidate the mechanisms underlying behavioral dysfunction and provide a framework for future therapeutic interventions.

Animals↗
PubMed1984

Prenatal effects of alcohol.

Suspicion of alcohol's teratogenic potential stretches back many centuries, but it is only recently that solid support for this possibility has been produced. There is now little doubt that alcohol can produce developmental defects, but there are many questions that still remain to be answered concerning the impact of alcohol on the conceptus. One major question that remains to be resolved is why only a small percentage of alcoholic women give birth to children with Fetal Alcohol Syndrome (FAS), whereas other alcoholic women who drink the same amount do not. Another important issue concerns the way in which alcohol produces its effects. Although one of the most likely ways in which alcohol's teratogenic actions are mediated appears to be via hypoxia, other mechanisms such as direct toxicity of alcohol or acetaldehyde may be involved. FAS refers to a pattern of defects in children born to alcoholic women. For a diagnosis of FAS to be made, the patient must have three main characteristics: (1) pre- and postnatal growth retardation (greater than or equal to 2 S.D. for length and weight), (2) facial anomalies, and (3) central nervous system dysfunction Pre- and postnatal growth retardation are the most reliable consequences of fetal alcohol exposure. In many cases, patients with the syndrome weigh less than 2500 g at birth and most do not exhibit postnatal 'catch-up growth' Among the distinctive facial anomalies seen in conjunction with the syndrome are absent-to-indistinct philtrum, epicanthic folds, thin upper lip and short upturned nose. Joint, limb and cardiac anomalies are also often present. Central nervous system dysfunction includes mental retardation, the most serious consequence of in utero alcohol exposure, hyperactivity, sleep disorders and miscellaneous behavioral difficulties. If only one or two of these broad characteristics are present and the mother is suspected of drinking during pregnancy, then a diagnosis of 'possible fetal alcohol syndrome,' or 'partial fetal alcohol syndrome,' or 'fetal alcohol effects,' or 'alcohol-related birth defects' may be made. However, without evidence of maternal drinking during pregnancy, this diagnosis is very tentative, since many of these effects are also observed in conjunction with many other congenital disorders.(ABSTRACT TRUNCATED AT 400 WORDS)

Abortion, Spontaneous↗
PubMed1997

Arthrogryposis multiplex congenita and bilateral mid-brain infarction following maternal overdose of co-proxamol.

We report a case of arthrogryposis multiplex congenita secondary to fetal hypokinesia in a 41-week gestation infant following antenatal central nervous system injury. The mother's pregnancy was complicated by an episode of attempted self harm, with an overdose of co-proxamol at 22 weeks of gestational age, and by the use of cocaine in combination with excess alcohol intake. Magnetic resonance imaging showed bilateral mid-brain cysts and marked atrophy of the basal ganglia and thalami.

Acetaminophen↗
PubMed2026

Cloning of human DING: Developmental expression and downregulation by EtOH in-utero.

INTRODUCTION: An estimated 15-20% of women consume alcohol (EtOH) during pregnancy. Women with alcohol use in early pregnancy are likely to have a child with fetal alcohol spectrum disorders (FASD). Recently, we reported neuroprotective effects of human DING (a member of the DING family of phosphatases) against EtOH-mediated toxicity in rats and in human fetal cortical neurons in vitro. Now, we report the sequencing and developmental expression patterns of endogenous DING in human fetal brain. METHODS: DING cDNA was cloned from human U87MG astrocytoma cells with primers specific to the plant DING gene and known prokaryotic DING genes. This cDNA was used to prepare antibodies. The full-length human DING gene p38hu (1095 nucleotide bases) is flanked by the first initiating codon, ATG, and the last, stop codon, TAA. Post-mortem fetal tissues and maternal blood were collected during pregnancy between 8 and 37 weeks' gestation. The developmental, spatial, and temporal expression of DING protein in fetal brain tissue was analyzed by immunohistochemistry. Developmental expression of DING in fetal brain and placenta was quantified by qWestern blots. DING promoter expression was assayed by ddPCR. Statistical analysis included ANOVA. RESULTS: Sequencing revealed different-sized genomic DNA clones. The anti-DING antibody detected proteins ranging in size from 35 to 40 kDa, and high molecular weight precursor protein in fetal brain and placenta. DING protein was present in fetal brain at early stages and its level was increased at later gestational ages. The DING promoter was expressed in fetal brain, neurospheres, and fetal brain-derived exosomes. DING levels were reduced in samples exposed to maternally consumed alcohol. CONCLUSIONS: Because DING is neuroprotective, its reduced expression in fetuses exposed to alcohol may suggest a mechanism that contributes to the pathogenesis of FASD, which could lead to the development of therapeutic tools aimed at preventing, ameliorating or reversing this prevalent group of syndromes that are implicated in as many as 5% of births world-wide.

DING gene cloning↗