RECOGNITION OF THE FETAL ALCOHOL SYNDROME IN EARLY INFANCY
Abstract
Historical reports indicate that the observation of an adverse effect on the fetus of chronic maternal alcoholism is not new. Three additional cases of the fetal alcohol syndrome have been recognised in two newborn infants and a 7-month-old baby. The immutable nature of the prenatal-onset growth deficiency was further confirmed. The first necropsy performed on a patient with fetal alcohol syndrome disclosed serious dysmorphogenesis of the brain, which may be responsible for some of the functional abnormalities and the joint malposition seen in this syndrome.
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Cited by (2205)
Secondary physical features in children with FASD
2024, European Journal of Medical GeneticsThe diagnoses included within the umbrella term fetal alcohol spectrum disorders (FASD), are based on the documentation of prenatal alcohol exposure (PAE), growth deficits and a pattern of dysmorphic physical features and neurobehavioral impairments. Although 3 key facial features (short palpebral fissures, a smooth philtrum and a thin vermilion of the upper lip) are the only dysmorphic features taken into account for the diagnosis of Fetal Alcohol Syndrome (FAS) or partial FAS (pFAS), several other features are commonly seen in individuals with these diagnoses. The goals of our study were to determine if some of these secondary physical features also occur more frequently in children with alcohol-related neurodevelopmental disorder (ARND) relative to controls, and if a cluster of these features combined in a dysmorphology score could be used to identify those negatively impacted by PAE but who do not have the cardinal physical features that led to a diagnosis of FAS or pFAS.
Among 2681 children recruited for the Collaboration on Fetal Alcohol Spectrum Disorders Prevalence (CoFASP) study, 1726 had an FASD or sufficient evidence of PAE having occurred or not in their pregnancy. Children were then categorized into groups using the modified Hoyme diagnostic criteria (FAS (n = 24), pFAS (n = 99) and ARND (n = 87), and No FASD (n = 1516), including those with No FASD and a history of PAE (No FASD/PAE, n = 498) and those with No FASD and no history of PAE (No FASD/No PAE, n = 1018). The frequencies of 26 secondary dysmorphic features were compared among these groups, both individually and combined in non-weighted and weighted dysmorphic scores. Correlations of the total dysmorphic scores with an index of overall cognitive ability were also compared by group status.
Several of these features were significantly more frequent in children with FAS than in those with No FASD diagnosis with or without PAE but not in comparison to those with ARND. The number of features was also significantly higher in the FAS group as compared to all other groups for both weighted and unweighted dysmorphology scores but were not higher in the group with ARND when compared to the groups with No FASD either in the presence or absence of PAE. Although not diagnostic, higher total dysmorphology scores were predictive of lower general cognitive abilities in the group with ARND, suggesting severity of alcohol-related dysmorphology is predictive of severity of alcohol-related neurobehavioral impairment.
Secondary physical features were not more frequent in children with ARND compared to children without an FASD diagnosis but were a marker for lower cognitive function. The use of secondary physical features to support a diagnosis of ARND was not supported in this sample.
Parental substance use disorder and risk of intellectual disability in offspring in Sweden: a national register study
2023, eClinicalMedicineIntellectual disability (ID) is a disorder with unknown aetiology in many cases. Maternal alcohol use is a known risk factor for ID, but less is known about the importance of maternal and paternal substance use disorder (SUD) and risk of ID in offspring.
Data from multiple nationwide registers were used to create a cohort of children born from January 01, 1978 to December 31, 2002. All participants were born in Sweden, had available parental identification information and did not emigrate or die before age 12 (n = 1,940,820). Logistic regression modelling was performed with exposure defined as having a parent who received any SUD diagnosis, including alcohol use disorder (AUD) and drug use disorder (DUD). The outcome was registration of diagnosis of any form of ID. First, we analysed the risk of ID if parental SUD was registered prior to childbirth with stepwise adjustment of multiple covariates. Second, the effect of timing of SUD diagnosis in relation to childbirth was analysed.
Of 37,410 offspring with parental SUD registered prior to birth, 3.0% (n = 1110) had any form of ID compared to 1.2% (n = 23,168) of those 1,903,410 individuals without parental SUD prior birth. Parental SUD prior birth was associated with an increased risk of any form of ID (Odds Ratio [OR]: 2.3 [2.2–2.5]), with ORs similar for maternal (OR: 2.3 [2.1–2.5]) and paternal SUD (OR: 2.3 [2.1–2.5]). These ORs were reduced but remained statistically significant after adjusting for parental education, migration, psychiatric comorbidity, and co-parent SUD (OR parental SUD: 1.6 [1.5–1.8]; OR maternal SUD: 1.4 [1.2–1.5]; OR paternal SUD: 1.6 [1.5–1.7]). Parental SUD was associated with increased risk of ID in offspring irrespective of timing of diagnosis, but if mothers or fathers were diagnosed with AUD during pregnancy (OR maternal AUD: 5.0 [3.1–8.2]; OR paternal AUD: 2.8 [2.2–3.6]), the risk was significantly greater than if the AUD diagnosis was first registered after childbirth (OR maternal AUD: 1.9 [1.8–2.0]; OR paternal AUD: 1.6 [1.6–1.7]).
Both paternal and maternal SUD were associated with an increased risk of ID in offspring, with greatest risk observed when AUD was diagnosed during pregnancy. Possible mechanisms may involve shared genetic and environmental factors, including toxic effects from alcohol intake. These findings have clinical implications in suggesting that parental SUD in either parent represents a possibly modifiable risk factor to consider when developing prevention, diagnostics and treatment programs for children with ID.
Stockholm County Council, the Research Council of the Swedish Alcohol Retailing Monopoly, Fredrik and Ingrid Thurings stiftelse, Academy of Finland, the Swedish Research Council and the Swedish Research Council for Health, Working Life and Welfare, Nordforsk by the Nordic Council of Ministers and the Polish Medical Research Agency.
Sonic hedgehog signaling in craniofacial development
2023, DifferentiationMutations in SHH and several other genes encoding components of the Hedgehog signaling pathway have been associated with holoprosencephaly syndromes, with craniofacial anomalies ranging in severity from cyclopia to facial cleft to midfacial and mandibular hypoplasia. Studies in animal models have revealed that SHH signaling plays crucial roles at multiple stages of craniofacial morphogenesis, from cranial neural crest cell survival to growth and patterning of the facial primordia to organogenesis of the palate, mandible, tongue, tooth, and taste bud formation and homeostasis. This article provides a summary of the major findings in studies of the roles of SHH signaling in craniofacial development, with emphasis on recent advances in the understanding of the molecular and cellular mechanisms regulating the SHH signaling pathway activity and those involving SHH signaling in the formation and patterning of craniofacial structures.
In utero and childhood exposure to alcohol and old age mortality: Evidence from the temperance movement in the US
2023, Economics and Human BiologyPrevious research suggests the relevance of in-utero insults and early-life circumstances for a wide array of life cycle outcomes. This research note joins this strand of studies by exploring the long-run mortality effects of in-utero and early-life exposure to alcohol accessibility. In so doing, we take advantage of the prohibition movement during the early part of the twentieth century that generated quasi-natural reductions in alcohol consumption. We use Social Security Administration Death Master Files linked to the full-count 1940 census and compare the longevity of male individuals exposed to the prohibition during in-utero and early childhood (1900–1930) as a result of statewide and federal alcohol ban to those wet counties after the law change to before. The results suggest an intent-to-treat effect of 0.17 years higher longevity as a result of prohibition. A back-of-an-envelope calculation suggests a minimum treatment-on-treated effect of 1.7 years impact. Furthermore, we show that these effects are not driven by other county-level demographic and socioeconomic changes, endogenous selection of births, and preexisting trends in the outcome. Our findings contribute to the growing body of research that explores the in-utero and childhood circumstances on long-term health outcomes.
Accounts of women identified as drinking at ‘high risk’ during pregnancy: A meta-ethnography of missing voices
2023, International Journal of Drug PolicyDrinking alcohol during pregnancy is associated with Foetal Alcohol Spectrum Disorders (FASD), and women who drink at higher levels are more likely to have a baby with FASD. Public health responses focus on population-level approaches to FASD prevention such as promoting abstinence and alcohol brief interventions. Efforts to better understand and respond to ‘high risk’ drinking during pregnancy have been largely ignored. This meta-ethnography of qualitative research aims to inform this policy and practice agenda.
Ten health, social care, and social sciences databases were searched for qualitative studies published since 2000 exploring drinking during pregnancy. Studies that included accounts of women who described themselves, or were diagnosed as, alcohol-dependent during pregnancy, or reported drinking during pregnancy at levels considered by the Word Health Organisation to constitute ‘high risk’ drinking, were eligible. Noblit and Hare's analytic approach to meta-ethnography was used to synthesise the studies and eMERGe reporting guidance was followed.
Nine diverse studies were included. All explored the impact of social norms and relationships, women's knowledge about the risks involved in drinking during pregnancy, the behaviour of women, and the advice they received. Three key themes were identified: drinking is social and relational, knowledge is not enough, and multiple adversities matter. Multiple adversities were interconnected and primarily related to structural inequalities and oppression. The complex needs of women and the wider context in which their drinking occurred were rarely explored or responded to during pregnancy.
This meta-ethnography provides a more nuanced understanding of the complex dynamics involved in women's ‘high risk’ drinking during pregnancy, the contexts in which they drink and their unmet needs. These findings can inform future policy and practice responses to ‘high risk’ drinking during pregnancy. Further research should explore women's experiences in a UK context and consider how services could meet women's needs.
Alcohol and pregnant women or women who want to become pregnant
2023, Sages-FemmesL’alcool est la première substance psychoactive expérimentée par les jeunes et, surtout, celle qui est le plus largement consommée au sein de la population. Ses répercussions et sa dangerosité, pour soi et pour les autres, ont été largement documentées ces dernières décennies. Les conséquences de cette consommation ainsi que les possibles actions préventives pour ce qui touche aux femmes enceintes ou en désir de grossesse doivent être connues par les soignants qui les accompagnent.
Alcohol is the first psychoactive substance experienced by young people and, above all, the one most widely consumed in the population. Its repercussions and its dangerousness, for oneself and for others, have been widely documented in the last decades. The consequences of this consumption as well as the possible preventive actions for pregnant women or women who want to become pregnant must be known by the caregivers who accompany them.