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1.
BMC Med ; 22(1): 467, 2024 Oct 15.
Artículo en Inglés | MEDLINE | ID: mdl-39407296

RESUMEN

BACKGROUND: Fetal alcohol spectrum disorder (FASD) is a significant public health concern, yet there is no internationally agreed set of diagnostic criteria or summary of underlying evidence to inform diagnostic decision-making. This systematic review assesses associations of prenatal alcohol exposure (PAE) and outcomes of diagnostic assessments, providing an evidence base for the improvement of FASD diagnostic criteria. METHODS: Six databases were searched (inception-February 2023). Case-controls or cohort studies examining associations between participants with/without PAE or a FASD diagnosis and the domains of physical size, dysmorphology, functional neurodevelopment and/or brain structure/neurology were included. Excluded studies were non-empirical, sample size < 10, PAE determined via biological markers only, or no suitable comparison group. Summary data were extracted and associations between outcomes and standardised levels of PAE or FASD diagnosis determined using random-effects meta-analyses. Certainty of the evidence was assessed using GRADE. RESULTS: Of the 306 included studies, 106 reported physical size, 43 dysmorphology, 195 functional neurodevelopment and 110 structural/neurological outcomes, with 292 different outcomes examined. There was a dose-response relationship between PAE and head circumference, as well as measures of physical size, particularly at birth. There was also an association between higher PAE levels and characteristic sentinel facial dysmorphology, as well as many of the current functional neurodevelopmental outcomes considered during diagnosis. However, data were often lacking across the full range of exposures. There was a lack of evidence from studies examining PAE to support inclusion of non-sentinel dysmorphic features, social cognition, speech-sound impairments, neurological conditions, seizures, sensory processing or structural brain abnormalities (via clinical MRI) in diagnostic criteria. GRADE ratings ranged from very low to moderate certainty of evidence. CONCLUSIONS: This comprehensive review provides guidance on which components are most useful to consider in the diagnostic criteria for FASD. It also highlights numerous gaps in the available evidence. Future well-designed pregnancy cohort studies should specifically focus on dose-response relationships between PAE and dysmorphology, neurodevelopment and brain structure/neurological outcomes. SYSTEMATIC REVIEW REGISTRATION: PROSPERO: CRD42021230522.


Asunto(s)
Trastornos del Espectro Alcohólico Fetal , Efectos Tardíos de la Exposición Prenatal , Humanos , Embarazo , Trastornos del Espectro Alcohólico Fetal/diagnóstico , Trastornos del Espectro Alcohólico Fetal/patología , Femenino , Trastornos del Neurodesarrollo/diagnóstico
2.
Nutrients ; 16(19)2024 Oct 07.
Artículo en Inglés | MEDLINE | ID: mdl-39408368

RESUMEN

BACKGROUND/OBJECTIVES: Malnutrition is a significant concern in paediatric populations, particularly among children with neurodevelopmental disorders such as foetal alcohol spectrum disorder (FASD). This study aimed to examine macronutrient and micronutrient imbalances and assess the nutritional status of a group of patients with FASD. METHODS: This study involved an analysis of the serum levels of key nutrients in a group of children diagnosed with FASD. Macronutrients and micronutrients were measured to identify any imbalances, including vitamin D, B12, E, A, albumin, and serum protein, among others. RESULTS: The study found a high prevalence of vitamin D deficiency among the patients. Additionally, elevated serum concentrations of micronutrients such as vitamin B12, E, and A were observed in 8%, 7%, and 19% of patients, respectively. Macronutrient imbalances were noted, including high levels of albumin and serum protein, indicating a possible metabolic disturbance. Unexpectedly, high rates of hypercholesterolemia were observed, raising concerns about an increased risk of metabolic syndrome in this population. CONCLUSIONS: These findings suggest that the principal issue among patients with FASD is an altered metabolism rather than nutritional deficiencies. Potential causes of these abnormalities could include oxidative stress and changes in body composition. The results underline the need for further research to better understand the unique nutritional challenges in children with FASD and to guide the development of targeted therapeutic strategies.


Asunto(s)
Trastornos del Espectro Alcohólico Fetal , Estado Nutricional , Humanos , Femenino , Estudios Transversales , Masculino , Niño , Trastornos del Espectro Alcohólico Fetal/sangre , Trastornos del Espectro Alcohólico Fetal/epidemiología , Preescolar , Micronutrientes/sangre , Micronutrientes/deficiencia , Deficiencia de Vitamina D/epidemiología , Deficiencia de Vitamina D/sangre , Deficiencia de Vitamina D/complicaciones , Prevalencia , Nutrientes , Desnutrición/epidemiología , Desnutrición/sangre , Adolescente , Hipercolesterolemia/epidemiología , Hipercolesterolemia/sangre
3.
J Appl Res Intellect Disabil ; 37(6): e13277, 2024 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-39232856

RESUMEN

BACKGROUND: Individuals with fetal alcohol spectrum disorder (FASD) experience complex needs that often necessitate support from multiple systems. There is growing evidence that people with FASD may benefit from integrated service delivery (ISD), but little is known about ISD elements and processes for this population. METHOD: Using a multi-method approach involving a literature review, analysis of programme data, and staff interviews, we examined how ISD is enacted at a rural Canadian FASD centre, and identified facilitators, barriers, and potential impacts of ISD at the centre. RESULTS: We describe key elements of integrated FASD programming and identify important contextual factors and themes related to ISD barriers, facilitators, and impacts: (1) connection, (2) freedom and autonomy, (3) client-centred care, (4) learning and growth, (5) and reframing expectations. CONCLUSIONS: This study may help to inform a roadmap for enhancing FASD service delivery and guiding FASD research and policy in Canada and beyond.


Asunto(s)
Prestación Integrada de Atención de Salud , Trastornos del Espectro Alcohólico Fetal , Humanos , Canadá , Trastornos del Espectro Alcohólico Fetal/terapia , Atención Dirigida al Paciente , Investigación Cualitativa
4.
Elife ; 122024 Sep 06.
Artículo en Inglés | MEDLINE | ID: mdl-39239947

RESUMEN

Alcohol consumption in pregnancy can affect genome regulation in the developing offspring but results have been contradictory. We employed a physiologically relevant murine model of short-term moderate prenatal alcohol exposure (PAE) resembling common patterns of alcohol consumption in pregnancy in humans. Early moderate PAE was sufficient to affect site-specific DNA methylation in newborn pups without altering behavioural outcomes in adult littermates. Whole-genome bisulfite sequencing of neonatal brain and liver revealed stochastic influence on DNA methylation that was mostly tissue-specific, with some perturbations likely originating as early as gastrulation. DNA methylation differences were enriched in non-coding genomic regions with regulatory potential indicative of broad effects of alcohol on genome regulation. Replication studies in human cohorts with fetal alcohol spectrum disorder suggested some effects were metastable at genes linked to disease-relevant traits including facial morphology, intelligence, educational attainment, autism, and schizophrenia. In our murine model, a maternal diet high in folate and choline protected against some of the damaging effects of early moderate PAE on DNA methylation. Our studies demonstrate that early moderate exposure is sufficient to affect fetal genome regulation even in the absence of overt phenotypic changes and highlight a role for preventative maternal dietary interventions.


Drinking excessive amounts of alcohol during pregnancy can cause foetal alcohol spectrum disorder and other conditions in children that affect their physical and mental development. Many countries advise women who are pregnant or trying to conceive to avoid drinking alcohol entirely. However, surveys of large groups of women in Western countries indicate that most women continue drinking low to moderate amounts of alcohol until they discover they are pregnant and then stop consuming alcohol for the rest of their pregnancy. It remains unclear how this common drinking pattern affects the foetus. The instructions needed to build and maintain a human body are stored within molecules of DNA. Some regions of DNA called genes contain the instructions to make proteins, which perform many tasks in the body. Other so-called 'non-coding' regions do not code for any proteins but instead have roles in regulating gene activity. One way cells control which genes are switched on or off is adding or removing tags known as methyl groups to certain locations on DNA. Previous studies indicate that alcohol may affect how children develop by changing the patterns of methyl tags on DNA. To investigate the effect of moderate drinking during the early stages of pregnancy, Bestry et al. exposed pregnant mice to alcohol and examined how this affected the patterns of methyl tags on DNA in their offspring. The experiments found moderate levels of alcohol were sufficient to alter the patterns of methyl tags in the brains and livers of the newborn mice. Most of the changes were observed in non-coding regions of DNA, suggesting alcohol may affect how large groups of genes are regulated. Fewer changes in the patterns of methyl tags were found in mice whose mothers had diets rich in two essential nutrients known as folate and choline. Further experiments found that some of the affected mouse genes were similar to genes linked to foetal alcohol spectrum disorder and other related conditions in humans. These findings highlight the potential risks of consuming even moderate levels of alcohol during pregnancy and suggest that a maternal diet rich in folate and choline may help mitigate some of the harmful effects on the developing foetus.


Asunto(s)
Metilación de ADN , Efectos Tardíos de la Exposición Prenatal , Animales , Metilación de ADN/efectos de los fármacos , Femenino , Embarazo , Efectos Tardíos de la Exposición Prenatal/genética , Ratones , Humanos , Dieta , Masculino , Etanol/efectos adversos , Etanol/toxicidad , Ratones Endogámicos C57BL , Modelos Animales de Enfermedad , Encéfalo/efectos de los fármacos , Encéfalo/embriología , Encéfalo/metabolismo , Trastornos del Espectro Alcohólico Fetal/genética , Hígado/efectos de los fármacos , Hígado/metabolismo , Hígado/embriología
5.
Lancet Child Adolesc Health ; 8(11): 835-842, 2024 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-39299258

RESUMEN

Alcohol is a known teratogen and prenatal alcohol exposure remains a major ongoing public health concern. Fetal alcohol spectrum disorder has become the diagnosis for describing individuals who have been affected by prenatal alcohol exposure. In this Viewpoint, we raise major concerns about its continued use as a diagnostic term in how it perpetuates a misleading and outdated narrative about child development and maternal health. We argue that the term fetal alcohol spectrum disorder has contributed to a culture of racism and discrimination for many who are diagnosed with it. The term fetal alcohol spectrum disorder fails to capture the progress made in our collective understanding of neurodevelopment through advancements in the field of genetics and in understanding the effects of trauma and adversity. We call for urgent international collaborative action to review the use of it as a diagnostic term and, more broadly, to reconsider the practice of diagnosing disabilities as medical illnesses. We suggest that this practice fails to recognise that outcomes of functioning and participation in individuals are not only the results of health conditions, but are also the products of complex interactions and experiences of individuals within the families and societies in which they live.


Asunto(s)
Trastornos del Espectro Alcohólico Fetal , Humanos , Trastornos del Espectro Alcohólico Fetal/diagnóstico , Femenino , Embarazo , Niño , Madres/psicología , Efectos Tardíos de la Exposición Prenatal , Racismo
6.
J Insur Med ; 51(2): 51-54, 2024 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-39265997

RESUMEN

Fetal alcohol spectrum disorder (FASD) and its associated physical and mental conditions is the most prevalent congenital impairment causing developmental and intellectual disability worldwide. Like alcohol abuse, FASD is typically undiagnosed by primary care providers. And like alcohol abuse, life underwriters and medical directors need to be aware of the signs, symptoms, and behaviors associated with FASD to accurately detect, identify, evaluate and assess the mortality risk. Three cases of suspected undiagnosed FASD that were underwritten for life expectancies in legal matters are discussed in this report. Not only were these patients' risks for excess mortality elevated due to their initial neurologic injury due to prenatal exposure to alcohol, but these cases demonstrate the importance of the stability and care needed to make them insurable. The following paper discusses the clinical and social settings at birth that may give underwriters and medical directors some clue to a potential case of the child having FASD and then to assess their statistical and lifestyle mortality risks.


Asunto(s)
Trastornos del Espectro Alcohólico Fetal , Humanos , Trastornos del Espectro Alcohólico Fetal/diagnóstico , Trastornos del Espectro Alcohólico Fetal/mortalidad , Femenino , Masculino , Embarazo , Seguro de Vida , Recién Nacido
8.
Aust N Z J Public Health ; 48(5): 100181, 2024 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-39322457

RESUMEN

OBJECTIVE: To identify additional mental and neurodevelopmental health needs of Aboriginal children born in Western Australia, who are placed in out-of-home care (OOHC), relative to Aboriginal children born in Western Australia who were not placed. METHODS: Data-linkage of hospitalisations, health registries and child protective services data for all Aboriginal children born in WA between 2000 and 2013 was used. Children placed in out-of-home care between 2000 and 2019 were matched to children never placed and prevalence and cumulative incidence estimates of mental and neurodevelopmental health conditions were compared. RESULTS: Children placed in out-of-home care had a three times greater prevalence of mental and neurodevelopmental health conditions generally. The prevalence of foetal alcohol spectrum disorder was ten times higher, and post-traumatic stress disorder was seven times higher for those placed in out-of-home care. Cumulative incidence plots highlighted for different conditions the ages at which the rate of diagnosis diverges between the two groups. CONCLUSIONS: Children placed in out-of-home care had greater mental and neurodevelopmental health needs generally when compared to children never placed in out-of-home care . IMPLICATIONS FOR PUBLIC HEALTH: Child protective services must ensure culturally safe, comprehensive, wrap-around services for Aboriginal children and their families are provided. Approaches should build on the strength of children, families and culture and avoid stigmatising children and their parents.


Asunto(s)
Cuidados en el Hogar de Adopción , Nativos de Hawái y Otras Islas del Pacífico , Humanos , Nativos de Hawái y Otras Islas del Pacífico/estadística & datos numéricos , Nativos de Hawái y Otras Islas del Pacífico/psicología , Femenino , Masculino , Niño , Australia Occidental/epidemiología , Preescolar , Prevalencia , Adolescente , Lactante , Trastornos del Neurodesarrollo/epidemiología , Trastornos del Neurodesarrollo/etnología , Servicios de Protección Infantil , Almacenamiento y Recuperación de la Información , Salud Mental/etnología , Sistema de Registros , Trastornos del Espectro Alcohólico Fetal/etnología , Trastornos del Espectro Alcohólico Fetal/epidemiología , Trastornos Mentales/epidemiología , Trastornos Mentales/etnología , Trastornos por Estrés Postraumático/epidemiología , Trastornos por Estrés Postraumático/etnología , Incidencia
9.
Drug Alcohol Rev ; 43(6): 1505-1514, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39138002

RESUMEN

INTRODUCTION: Developmental outcomes for children and young people with fetal alcohol spectrum disorder (FASD) are optimised if their needs are identified early. Yet, health workers miss vital opportunities to identify and respond to FASD due to a lack of support, knowledge and skills. METHODS: Through surveys and interviews, our study investigated what child and family health workers in an Australian metropolitan local health district understand, already do and want to learn about FASD. RESULTS: The study provided evidence of low FASD knowledge and confidence and a lack of referral options with some workers 'patching together' care planning in a 'referral black hole'. Qualitative data provided insight into how skilled clinicians engage families in FASD assessment and negotiate gaps in clinical knowledge. DISCUSSION AND CONCLUSIONS: Health workers in this study requested high-quality training and the development of FASD practice guidelines to improve role clarity and clinical impact when working with FASD populations.


Asunto(s)
Trastornos del Espectro Alcohólico Fetal , Humanos , Trastornos del Espectro Alcohólico Fetal/diagnóstico , Femenino , Australia , Niño , Salud de la Familia , Embarazo , Masculino , Personal de Salud , Conocimientos, Actitudes y Práctica en Salud , Adulto , Salud Infantil , Encuestas y Cuestionarios , Derivación y Consulta
10.
Gene ; 931: 148854, 2024 Dec 30.
Artículo en Inglés | MEDLINE | ID: mdl-39147113

RESUMEN

Ancestrally admixed populations are underrepresented in genetic studies of complex diseases, which are still dominated by European-descent populations. This is relevant not only from a representation standpoint but also because of admixed populations' unique features, including being enriched for rare variants, for which effect sizes are disproportionately larger than common polymorphisms. Furthermore, results from these populations may be generalizable to other populations. The South African Cape Coloured (SACC) population is genetically admixed and has one of the highest prevalences of fetal alcohol spectrum disorders (FASD) worldwide. We profiled its admixture and examined associations between ancestry profiles and FASD outcomes using two longitudinal birth cohorts (N=308 mothers, 280 children) designed to examine effects of prenatal alcohol exposure on development. Participants were genotyped via MEGAex array to capture common and rare variants. Rare variants were overrepresented in our SACC cohorts, with numerous polymorphisms being monomorphic in other reference populations (e.g., ∼30,000 and âˆ¼ 221,000 variants in gnomAD European and Asian populations, respectively). The cohorts showed global African (51 %; Bantu and San); European (26 %; Northern/Western); South Asian (18 %); and East Asian (5 %; largely Southern regions) ancestries. The cohorts exhibited high rates of homozygosity (6 %), with regions of homozygosity harboring more deleterious variants when lying within African local-ancestry genomic segments. Both maternal and child ancestry profiles were associated with higher FASD risk, and maternal and child ancestry-by-prenatal alcohol exposure interaction effects were seen on child cognition. Our findings indicate that the SACC population may be a valuable asset to identify novel disease-associated genetic loci for FASD and other diseases.


Asunto(s)
Trastornos del Espectro Alcohólico Fetal , Humanos , Trastornos del Espectro Alcohólico Fetal/genética , Trastornos del Espectro Alcohólico Fetal/epidemiología , Femenino , Sudáfrica/epidemiología , Masculino , Embarazo , Población Negra/genética , Adulto , Niño , Polimorfismo de Nucleótido Simple , Predisposición Genética a la Enfermedad , Población Blanca/genética
11.
Drug Alcohol Depend ; 263: 112420, 2024 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-39208694

RESUMEN

BACKGROUND: Fetal alcohol spectrum disorders (FASDs) are lifelong conditions that can occur in a person with prenatal alcohol exposure. Although studies using intensive, in-person assessments of children in selected communities have found higher estimates of children with FASDs than studies of healthcare claims data, claims-based studies provide more current information about individuals with recognized FASDs from diverse populations. We estimated the proportion of children with administratively reported FASDs in two large healthcare claims databases. METHODS: We analyzed Merative™ MarketScan® commercial and Medicaid claims databases, that include nationwide data from employer-sponsored health plans and from Medicaid programs in 8-10 states, respectively. For each database, we estimated the proportion of children aged 0-17 years with administratively reported FASDs, identified by one inpatient or two outpatient codes for prenatal alcohol exposure or fetal alcohol syndrome during the entire seven-year period from 2015 to 2021 and during each year. RESULTS: During 2015-2021, 1.2 per 10,000 commercially-insured and 6.1 per 10,000 Medicaid-insured children had an administratively reported FASD; estimates varied by sex, geography, and other available demographics. Among commercially-insured children, 0.5 per 10,000 in 2015 and 0.6 per 10,000 children in 2021 had an administratively reported FASD; among Medicaid-insured, 1.2 per 10,000 in 2015 and 2.1 per 10,000 children in 2021 had an administratively reported FASD. CONCLUSIONS: Although an underestimate of the true population of children with FASDs, patterns in administratively reported FASDs by demographics were consistent with previous studies. Healthcare claims studies can provide timely, ongoing information about children with recognized FASDs to complement in-persons studies.


Asunto(s)
Trastornos del Espectro Alcohólico Fetal , Medicaid , Humanos , Trastornos del Espectro Alcohólico Fetal/epidemiología , Trastornos del Espectro Alcohólico Fetal/economía , Estados Unidos/epidemiología , Femenino , Niño , Preescolar , Lactante , Adolescente , Masculino , Recién Nacido , Embarazo , Bases de Datos Factuales , Seguro de Salud
12.
Behav Brain Res ; 474: 115176, 2024 10 02.
Artículo en Inglés | MEDLINE | ID: mdl-39098400

RESUMEN

Alcohol is the most consumed addictive substance worldwide that elicits multiple health problems. Consumption of alcoholic beverages by pregnant women is of great concern because pre-natal exposure can trigger fetal alcohol spectrum disorder (FASD). This disorder can significantly change the embryo's normal development, mainly by affecting the central nervous system (CNS), leading to neurobehavioral consequences that persist until adulthood. Among the harmful effects of FASD, the most reported consequences are cognitive and behavioral impairments. Alcohol interferes with multiple pathways in the brain, affecting memory by impairing neurotransmitter systems, increasing the rate of oxidative stress, or even activating neuroinflammation. Here, we aimed to evaluate the deleterious effects of alcohol on the cholinergic signaling and memory in a FASD zebrafish model, using inhibitory avoidance and novel object recognition tests. Four months after the embryonic exposure to ethanol, the behavioral tests indicated that ethanol impairs memory. While both ethanol concentrations tested (0.5 % and 1 %) disrupted memory acquisition in the inhibitory avoidance test, 1 % ethanol impaired memory in the object recognition test. Regarding the cholinergic system, 0.5 % ethanol decreased ChAT and AChE activities, but the relative gene expression did not change. Overall, we demonstrated that FASD model in zebrafish impairs memory in adult individuals, corroborating the memory impairment associated with embryonic exposure to ethanol. In addition, the cholinergic system was also affected, possibly showing a relation with the cognitive impairment observed.


Asunto(s)
Modelos Animales de Enfermedad , Etanol , Trastornos del Espectro Alcohólico Fetal , Transmisión Sináptica , Pez Cebra , Animales , Etanol/farmacología , Etanol/efectos adversos , Trastornos del Espectro Alcohólico Fetal/metabolismo , Transmisión Sináptica/efectos de los fármacos , Transmisión Sináptica/fisiología , Femenino , Memoria/efectos de los fármacos , Trastornos de la Memoria/inducido químicamente , Reacción de Prevención/efectos de los fármacos , Conducta Animal/efectos de los fármacos , Masculino , Encéfalo/efectos de los fármacos , Encéfalo/metabolismo , Depresores del Sistema Nervioso Central/farmacología , Embarazo
13.
Behav Brain Res ; 474: 115208, 2024 10 02.
Artículo en Inglés | MEDLINE | ID: mdl-39154755

RESUMEN

Existing maze apparatuses used in rodents often exclusively assess spatial discriminability as a means to evaluate learning impairments. Spatial learning in such paradigms is reportedly spared by moderate prenatal alcohol exposure in rats, suggesting that spatial reinforcement alone is insufficient to delineate executive dysfunction, which consistently manifests in humans prenatally-exposed to alcohol. To address this, we designed a single-session continuous performance task in the T-maze apparatus that requires rats to discriminate within and between simultaneously-presented spatial (left or right) and tactile (sandpaper or smooth) stimuli for food reinforcement across four sequential discrimination stages: simple discrimination, intradimensional reversal 1, extradimensional shift, and intradimensional reversal 2. This design incorporates elements of working memory, attention, and goal-seeking behavior which collectively contribute to the executive function construct. Here, we found that rats prenatally-exposed to alcohol performed worse in both the tactile intradimensional reversal and extradimensional shift; alternatively, rats prenatally-exposed to alcohol acquired the extradimensional shift faster when shifting from the tactile to spatial dimension. In line with previous work, moderate prenatal alcohol exposure spared specifically spatial discrimination in this paradigm. However, when tactile stimuli were mapped into the spatial dimension, rats prenatally-exposed to alcohol required more trials to discriminate between the dimensions. We demonstrate that tactile stimuli can be operantly employed in a continuous performance T-maze task to detect discriminatory learning impairments in rats exposed to moderate prenatal alcohol. The current paradigm may be useful for assessing features of executive dysfunction in rodent models of fetal alcohol spectrum disorders.


Asunto(s)
Etanol , Aprendizaje por Laberinto , Efectos Tardíos de la Exposición Prenatal , Animales , Embarazo , Efectos Tardíos de la Exposición Prenatal/fisiopatología , Efectos Tardíos de la Exposición Prenatal/inducido químicamente , Femenino , Aprendizaje por Laberinto/efectos de los fármacos , Aprendizaje por Laberinto/fisiología , Etanol/farmacología , Etanol/administración & dosificación , Etanol/efectos adversos , Masculino , Ratas , Ratas Long-Evans , Percepción Espacial/efectos de los fármacos , Percepción Espacial/fisiología , Discriminación en Psicología/efectos de los fármacos , Discriminación en Psicología/fisiología , Percepción del Tacto/fisiología , Percepción del Tacto/efectos de los fármacos , Memoria a Corto Plazo/efectos de los fármacos , Memoria a Corto Plazo/fisiología , Trastornos del Espectro Alcohólico Fetal/fisiopatología , Tacto/fisiología , Tacto/efectos de los fármacos
14.
BMC Med Educ ; 24(1): 874, 2024 Aug 13.
Artículo en Inglés | MEDLINE | ID: mdl-39138469

RESUMEN

BACKGROUND: Student-led clinics can provide low-cost speciality care and practical interprofessional education (IPE) opportunities. In Australia, there are currently limited speciality services available that provide neurodevelopmental assessments that consider fetal alcohol spectrum disorder (FASD) as one possible outcome. The aim of the current study was to understand student experiences in a novel interprofessional student-led clinic for children and adolescents with suspected or confirmed prenatal alcohol exposure. METHOD: Seventeen allied health university students (11 occupational therapy; 6 psychology) participated in individual semi-structured interviews following completion of a 10-week clinic placement. Reflexive thematic analysis was undertaken using NVivo12. RESULTS: Four main themes were generated: (1) Interprofessional practice a key for students' development as future healthcare professionals; (2) Meaningful relationships and students' belief they made a difference; (3) Novel challenges tested students' capabilities on placement; and (4) Supervisor attitude and approach to learning supported student development. CONCLUSIONS: The current study demonstrated that the interprofessional student-led neurodevelopmental clinic provided a valuable IPE opportunity for students.


Asunto(s)
Relaciones Interprofesionales , Investigación Cualitativa , Humanos , Femenino , Australia , Masculino , Trastornos del Espectro Alcohólico Fetal , Estudiantes del Área de la Salud/psicología , Adolescente , Terapia Ocupacional/educación , Educación Interprofesional , Niño , Psicología/educación , Actitud del Personal de Salud
15.
Sci Rep ; 14(1): 19886, 2024 08 27.
Artículo en Inglés | MEDLINE | ID: mdl-39191924

RESUMEN

Prenatal alcohol-exposed (AE) infants and children often demonstrate disrupted sleep patterns, including more frequent awakenings, reduced total sleep time, and more night-to-night sleep variability. Despite the strong connection between sleep patterns and circadian rhythmicity, relatively little is known about circadian rhythm disruptions in individuals with AE. Recently, several reports demonstrated that evaluating the expression patterns of human clock genes in biological fluids could reveal an individual's circadian phenotype. Human saliva offers an emerging and easily available physiological sample that can be collected non-invasively for core-clock gene transcript analyses. We compared the expression patterns of core-clock genes and their regulatory genes in salivary samples of children aged 6-10 years-old with and without AE during the light cycle between ZT0-ZT11. We isolated the RNA from the samples and measured the expression patterns of core clock genes and clock regulating genes using the human specific primers with quantitative real-time PCR. Analysis of core clock genes expression levels in saliva samples from AE children indicates significantly altered levels in expression of core-clock BMAL1, CLOCK, PER1-3 and CRY1,2, as compared to those in age-matched control children. We did not find any sex difference in levels of clock genes in AE and control groups. Cosinor analysis was used to evaluate the rhythmic pattern of these clock genes, which identified circadian patterns in the levels of core clock genes in the control group but absent in the AE group. The gene expression profile of a salivary circadian biomarker ARRB1 was rhythmic in saliva of control children but was arhythmic in AE children. Altered expression patterns were also observed in clock regulatory genes: NPAS2, NFL3, NR1D1, DEC1, DEC2, and DBP, as well as chromatin modifiers: MLL1, P300, SIRT1, EZH2, HDAC3, and ZR1D1, known to maintain rhythmic expression of core-clock genes. Overall, these findings provide the first evidence that AE disturbs the circadian patten expression of core clock genes and clock-regulatory chromatin modifiers in saliva.


Asunto(s)
Ritmo Circadiano , Epigénesis Genética , Trastornos del Espectro Alcohólico Fetal , Saliva , Humanos , Saliva/metabolismo , Niño , Femenino , Masculino , Trastornos del Espectro Alcohólico Fetal/genética , Trastornos del Espectro Alcohólico Fetal/metabolismo , Ritmo Circadiano/genética , Embarazo , Proteínas CLOCK/genética , Proteínas CLOCK/metabolismo , Regulación de la Expresión Génica , Relojes Circadianos/genética
16.
J Dev Behav Pediatr ; 45(4): e358-e364, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38990137

RESUMEN

OBJECTIVE: Sleep disturbance is an important feature of fetal alcohol spectrum disorder (FASD). We sought to describe sleep patterns in school-aged children with FASD, in comparison with a typically developing community group, and investigate the relationship between sleep and neurodevelopmental profiles. METHOD: The FASD cohort (N = 36) was recruited from a tertiary Australian FASD diagnostic center, and the typically developing group (N = 36) was previously recruited as a control cohort for a separate study. Sleep disturbance was assessed with the caregiver-completed Sleep Disturbance Scale for Children (SDSC) questionnaire. Neurodevelopmental assessment results for the 10 domains impaired in FASD were used for correlations with sleep disturbance. RESULTS: In the FASD group, 80% of children scored above the SDSC cutoff, compared with 22% of the control group ( p < 0.001). Statistically significant group differences were seen for all 6 subscales of the SDSC ( p < 0.05). The most frequently affected domains in the FASD group related to difficulties with initiating and maintaining sleep (58%), sleep-wake transition disorders (44%), and disorders of arousal (42%). A statistically significant relationship was not found between sleep and the severity of neurodevelopmental impairment or impairment of a particular domain, acknowledging the limitations of our small sample size. Half of the FASD sample (52%) were taking a pharmaceutical agent to support sleep, which was not associated with lower SDSC scores. CONCLUSION: In this small study, sleep disturbances were frequently reported by carers of children with FASD, independent of the severity of their neurodevelopmental impairments. Persistent sleep disturbance despite the use of sleep medications highlights the need for prospective studies exploring sleep interventions in this population. Integration of behavioral sleep medicine into management is recommended for all children with FASD.


Asunto(s)
Trastornos del Espectro Alcohólico Fetal , Trastornos del Neurodesarrollo , Trastornos del Sueño-Vigilia , Humanos , Trastornos del Espectro Alcohólico Fetal/fisiopatología , Trastornos del Sueño-Vigilia/epidemiología , Trastornos del Sueño-Vigilia/etiología , Niño , Femenino , Masculino , Trastornos del Neurodesarrollo/epidemiología , Trastornos del Neurodesarrollo/etiología , Australia/epidemiología , Estudios de Cohortes
17.
JMIR Ment Health ; 11: e51074, 2024 Jul 11.
Artículo en Inglés | MEDLINE | ID: mdl-38994826

RESUMEN

Background: Fetal alcohol spectrum disorder (FASD) is a common developmental disability that requires lifelong and ongoing support but is often difficult to find due to the lack of trained professionals, funding, and support available. Technology could provide cost-effective, accessible, and effective support to those living with FASD and their caregivers. Objective: In this review, we aimed to explore the use of technology available for supporting people living with FASD and their caregivers. Methods: We conducted a scoping review to identify studies that included technology for people with FASD or their caregivers; focused on FASD; used an empirical study design; were published since 2005; and used technology for assessment, diagnosis, monitoring, or support for people with FASD. We searched MEDLINE, Web of Science, Scopus, Embase, APA PsycINFO, ACM Digital Library, JMIR Publications journals, the Cochrane Library, EBSCOhost, IEEE, study references, and gray literature to find studies. Searches were conducted in November 2022 and updated in January 2024. Two reviewers (CZC and HW) independently completed study selection and data extraction. Results: In total, 17 studies exploring technology available for people with FASD showed that technology could be effective at teaching skills, supporting caregivers, and helping people with FASD develop skills. Conclusions: Technology could provide support for people affected by FASD; however, currently there is limited technology available, and the potential benefits are largely unexplored.


Asunto(s)
Cuidadores , Trastornos del Espectro Alcohólico Fetal , Humanos , Trastornos del Espectro Alcohólico Fetal/terapia , Trastornos del Espectro Alcohólico Fetal/diagnóstico , Cuidadores/educación , Cuidadores/psicología , Femenino
18.
BMJ Open ; 14(7): e086999, 2024 Jul 13.
Artículo en Inglés | MEDLINE | ID: mdl-39002966

RESUMEN

OBJECTIVES: This scoping review aimed to identify and critically appraise resources for health professionals to identify, diagnose, refer, and support individuals with fetal alcohol spectrum disorder (FASD)-including the extent to which the resources are appropriate for use in communities with First Nations Peoples. METHOD: Seven peer-reviewed databases (April 2022) and 14 grey literature websites (August 2022) were searched. The reference lists of all sources that underwent full-text review were handsearched, and FASD experts were consulted for additional sources. Resources were assessed using the Appraisal of Guidelines for REsearch and Evaluation II instrument and an adapted version of the National Health and Medical Research Council FORM Framework and iCAHE Guideline Quality Checklist. RESULTS: A total of 41 resources underwent data extraction and critical appraisal, as screening and/or diagnosis guidelines were excluded because they are covered in other reviews. Most were recently published or updated (n=24), developed in the USA (n=15, 36.6%) or Australia (n=12, 29.3%) and assisted with FASD patient referral or support (n=40). Most management guidelines scored 76%-100% on overall quality assessment (n=5/9) and were recommended for use in the Australian context with modifications (n=7/9). Most of the guides (n=15/22) and factsheets (n=7/10) received a 'good' overall score. Few (n=3/41) resources were explicitly designed for or with input from First Nations Australians. CONCLUSION: High-quality resources are available to support health professionals providing referrals and support to individuals with FASD, including language guides. Resources should be codesigned with people living with FASD to capture and integrate their knowledge and preferences.


Asunto(s)
Trastornos del Espectro Alcohólico Fetal , Personal de Salud , Trastornos del Espectro Alcohólico Fetal/diagnóstico , Trastornos del Espectro Alcohólico Fetal/terapia , Humanos , Femenino , Embarazo , Recursos en Salud , Guías de Práctica Clínica como Asunto
19.
Sci Rep ; 14(1): 14971, 2024 06 28.
Artículo en Inglés | MEDLINE | ID: mdl-38951515

RESUMEN

Fetal alcohol spectrum disorders (FASD) are a severe developmental condition resulting from exposure to alcohol during pregnancy. The aim of this study was to examine the concentrations of hormones involved in appetite regulation-ghrelin, leptin, and putative peptide YY-3 (PYY)-in the serum of individuals with FASD. Additionally, we investigated the relationship between these hormone levels and clinical indicators. We conducted an enzyme-linked immunosorbent assay on samples collected from 62 FASD patients and 23 individuals without the condition. Our results revealed a significant decrease in leptin levels among FASD patients compared to the control group (5.124 vs. 6.838 ng/mL, p = 0.002). We revealed no statistically significant differences in the levels of other hormones studied (ghrelin and PYY). Comparisons of hormone levels were also conducted in three subgroups: FAS, neurobehavioral disorders associated with prenatal alcohol exposure and FASD risk, as well as by sex. Assignment to FASD subgroups indicated changes only for leptin. Sex had no effect on the levels of hormones. Moreover, the levels of leptin showed a negative correlation with cortisol levels and a positive correlation with BMI and proopiomelanocortin. Alterations in appetite regulation can contribute to the improper development of children with FASD, which might be another factor that should be taken into consideration in the proper treatment of patients.


Asunto(s)
Trastornos del Espectro Alcohólico Fetal , Ghrelina , Leptina , Péptido YY , Humanos , Leptina/sangre , Trastornos del Espectro Alcohólico Fetal/sangre , Femenino , Ghrelina/sangre , Masculino , Péptido YY/sangre , Embarazo , Niño , Adulto , Estudios de Casos y Controles , Preescolar
20.
Sci Rep ; 14(1): 16121, 2024 07 12.
Artículo en Inglés | MEDLINE | ID: mdl-38997303

RESUMEN

Microbiota imbalances are linked to inflammation and disease, as well as neurodevelopmental conditions where they may contribute to behavioral, physiological, and central nervous system dysfunction. By contrast, the role of the microbiota in Fetal Alcohol Spectrum Disorder (FASD), the group of neurodevelopmental conditions that can occur following prenatal alcohol exposure (PAE), has not received similar attention. Here we utilized a rodent model of alcohol consumption during pregnancy to characterize the impact of alcohol on the microbiota of dam-offspring dyads. Overall, bacterial diversity decreased in alcohol-consuming dams and community composition differed from that of controls in alcohol-consuming dams and their offspring. Bacterial taxa and predicted biochemical pathway composition were also altered with alcohol consumption/exposure; however, there was minimal overlap between the changes in dams and offspring. These findings illuminate the potential importance of the microbiota in the pathophysiology of FASD and support investigation into novel microbiota-based interventions.


Asunto(s)
Consumo de Bebidas Alcohólicas , Heces , Efectos Tardíos de la Exposición Prenatal , Animales , Embarazo , Femenino , Heces/microbiología , Consumo de Bebidas Alcohólicas/efectos adversos , Efectos Tardíos de la Exposición Prenatal/microbiología , Ratas , Trastornos del Espectro Alcohólico Fetal/microbiología , Microbioma Gastrointestinal/efectos de los fármacos , Etanol/efectos adversos , Masculino , Modelos Animales de Enfermedad , Microbiota/efectos de los fármacos , Bacterias/clasificación , Bacterias/efectos de los fármacos
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