Dataset Information

Identifying fetal alcohol spectrum disorder among South African children at aged 1 and 5 years.

ABSTRACT:

Background

Fetal Alcohol Spectrum Disorders (FASD) are a global health concern. Early intervention mitigates deficits, yet early diagnosis remains challenging. We examined whether children can be screened and meet diagnoses for FASD at 1.5 years compared to 5 years post-birth.

Methods

A population cohort of pregnant women in 24 neighborhoods (N = 1258) was recruited and 84.5 %-96 % were reassessed at two weeks post-birth, 0.5 years, 1.5 years, 3 years, and 5 years later. A two-step process was followed to diagnose FASD; first, a paraprofessional screened the children and then a physician evaluated the child. We evaluated FASD symptoms at 1.5 vs. 5 years. We also examined maternal differences in children receiving a positive FASD screening (n = 160) with those who received a negative FASD screening.

Results

Screening positive for FASD more than doubled from 1.5 years to 5 years (from 6.8 % to 14.8 %). About one quarter of children who screened positive and were evaluated by a physician, were diagnosed as having a FASD. However, half did not complete the 2nd stage screening. Compared to mothers of children with a negative FASD screening, mothers of children with a positive FASD screening were less likely to have a high school education and more likely to have lower incomes, have experienced interpersonal partner violence, and have a depressed mood. Mothers of children who did not follow up for a 2nd stage physician evaluation were more like to live in informal housing compared to those who followed-up (81.3 % vs. 62.5 %, p = 0.014).

Conclusions

We found that children can be screened and diagnosed for FASD at 1.5 and 5 years. As FASD characteristics develop over time, repeated screenings are necessary to identify all affected children and launch preventive interventions. Referrals for children to see a physician to confirm diagnosis and link children to care remains a challenge. Integration with the primary healthcare system might mitigate some of those difficulties.

SUBMITTER: Wynn A

PROVIDER: S-EPMC7736512 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:BACKGROUND:Fetal Alcohol Spectrum Disorder (FASD) is a public health problem globally, with South Africa having the highest recorded prevalence of all countries. Government programmes to prevent and manage FASD remain limited because of the lack of a specific policy. Herein, we developed a guideline to inform policy on the prevention and management of FASD in South Africa. METHODS:We applied a modified version of the World Health Organization's approach to guideline development in three phases. In the first phase, we designed the initial guideline prototype. To do this, we conducted an in-depth interview with policymakers and a focus group with relevant service providers on policy requirements for FASD, a document review of policies on FASD and a scoping review of various interventions for FASD. In phase 2, we refined the initially formulated guideline prototype through a discursive approach with seven local and international experts on FASD. Phase 3 involved refining the prototype using a modified Delphi approach. Forty-three and forty-one experts participated in rounds 1 and 2 of the Delphi approach, respectively. The acceptable consensus for each included policy statement was 85%. RESULTS:We identified three aspects of the proposed guideline, which are the approaches and guiding principles, the prevention measures and the management measures. The guideline proposes that a FASD policy should consider lifespan needs, be culturally diverse, collaborative, evidence-based, multi-sectoral and address social determinants of health contributing to FASD. The essential components of FASD prevention policy consist of awareness and education of the dangers of drinking alcohol, access to treatment for alcohol problems and training of service providers. The management components include capacity building related to diagnosis, educating parents regarding the needs and management, appropriate referral pathways, training of teachers regarding classroom management and support for parents and individuals with FASD. CONCLUSION:FASD in South Africa deserves urgent attention. Developing a specific policy to guide programmes could enhance and coordinate the efforts towards preventing and managing FASD. The guideline has the potential to assist policymakers in the development of a comprehensive and multi-sectoral policy for prevention and management of FASD, considering the consensus obtained from the experts.

Project description:Background: Fetal alcohol spectrum disorder (FASD) is a developmental disorder that manifests through a range of cognitive, adaptive, physiological, and neurobiological deficits resulting from prenatal alcohol exposure. Although the North American prevalence is currently estimated at 2-5%, FASD has proven difficult to identify in the absence of the overt physical features characteristic of fetal alcohol syndrome. As interventions may have the greatest impact at an early age, accurate biomarkers are needed to identify children at risk for FASD. Building on our previous work identifying distinct DNA methylation patterns in children and adolescents with FASD, we have attempted to validate these associations in a different clinical cohort and to use our DNA methylation signature to develop a possible epigenetic predictor of FASD. Methods: Genome-wide DNA methylation patterns were analyzed using the Illumina HumanMethylation450 array in the buccal epithelial cells of a cohort of 48 individuals aged 3.5-18 (24 FASD cases, 24 controls). The DNA methylation predictor of FASD was built using a stochastic gradient boosting model on our previously published dataset FASD cases and controls (GSE80261). The predictor was tested on the current dataset and an independent dataset of 48 autism spectrum disorder cases and 48 controls (GSE50759). Results: We validated findings from our previous study that identified a DNA methylation signature of FASD, replicating the altered DNA methylation levels of 161/648 CpGs in this independent cohort, which may represent a robust signature of FASD in the epigenome. We also generated a predictive model of FASD using machine learning in a subset of our previously published cohort of 179 samples (83 FASD cases, 96 controls), which was tested in this novel cohort of 48 samples and resulted in a moderately accurate predictor of FASD status. Upon testing the algorithm in an independent cohort of individuals with autism spectrum disorder, we did not detect any bias towards autism, sex, age, or ethnicity. Conclusion: These findings further support the association of FASD with distinct DNA methylation patterns, while providing a possible entry point towards the development of epigenetic biomarkers of FASD.