Genetic diagnosis of Down syndrome in an underserved community

Sobering, Andrew K.; Stevens, Joshua B.; Smith, Janice; Nelson, Beverly; Donald, Tyhiesia; Elsea, Sarah H.

doi:10.1002/ajmg.a.38573

Cited by 6 publications

(5 citation statements)

References 3 publications

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“…The genetic centres offer a family orientation on health care and appropriate guidance by varied health professionals to help them assess differential needs of individuals with DS (Sobering et al . 2018).…”

Section: Discussionmentioning

confidence: 99%

Trends and predictions for survival and mortality in individuals with Down syndrome in Brazil: A 21‐year analysis

Gomes

Neto

Goloni-Bertollo

et al. 2020

J intellect Disabil Res

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Background Regional heterogeneities and sociodemographic characteristics affect mortality and population survival in Brazil. However, for individuals with Down syndrome (DS) this information remains unknown. In this study, we analysed survival and mortality rates among DS individuals in the five Brazilian geographic regions. In addition, we investigated whether there is an association between mortality and sociodemographic factors across administrative regions. Methods Data between 1996 and 2016, comprising 10 028 records of deaths of individuals with DS, were collected from database records of the Department of Informatics of the Unified Health System. Data on race/ethnicity, sex, age and years of schooling were defined for the association analyses. Survival data were analysed according to the Kaplan–Meier method and Cox regression model. Results The number of deaths among people with DS has increased in recent years. Children are more susceptible to death, especially in the first years of life. Individuals living in the northern region, Indigenous women and people with no years of schooling have higher mortality. In the Southeast and South region, for White and Yellow, survival is related to a higher level of education. Ethnic factors and years of schooling influence risk for mortality across the administrative regions. Conclusions These findings show that sociodemographic characteristics affect survival and are associated with the risk of mortality for people with DS. In addition, this suggests that differences in access to health services among Brazilian regions, especially in the first years of life, may affect the survival of individuals with DS.

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Section: Discussionmentioning

confidence: 99%

Trends and predictions for survival and mortality in individuals with Down syndrome in Brazil: A 21‐year analysis

Gomes

Neto

Goloni-Bertollo

et al. 2020

J intellect Disabil Res

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“…Individual 4 was a 5-year-old female who first came to our atten- (Charles et al, 2017), 2 (Yearwood et al, 2018), 3 (Mitchell et al, 2019), 4, (Kruszka et al, 2017), 5 (Sobering et al, 2017).…”

Section: Individualmentioning

confidence: 99%

Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community

Sobering

Beighley

et al. 2020

American J of Med Genetics Pt C

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We describe our experiences with organizing pro bono medical genetics and neurology outreach programs on several different resource‐limited islands in the West Indies. Due to geographic isolation, small population sizes, and socioeconomic disparities, most Caribbean islands lack medical services for managing, diagnosing, and counseling individuals with genetic disorders. From 2015 to 2019, we organized 2–3 clinics per year on various islands in the Caribbean. We also organized a week‐long clinic to provide evaluations for children suspected of having autism spectrum disorder. Consultations for over 100 different individuals with suspected genetic disorders were performed in clinics or during home visits following referral by locally registered physicians. When possible, follow‐up visits were attempted. When available and appropriate, clinical samples were shipped to collaborating laboratories for molecular analysis. Laboratory tests included karyotyping, cytogenomic microarray analysis, exome sequencing, triplet repeat expansion testing, blood amino acid level determination, biochemical assaying, and metabolomic profiling. We believe that significant contributions to healthcare by genetics professionals can be made even if availability is limited. Visiting geneticists may help by providing continuing medical education seminars. Clinical teaching rounds help to inform local physicians regarding the management of genetic disorders with the aim of generating awareness of genetic conditions. Even when only periodically available, a visiting geneticist may benefit affected individuals, their families, their local physicians, and the community at large.

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“…in collaboration with local clinicians and medical students as extracurricular academic activities. 6,7 The informal process leading to the diagnosis was initiated when the proband sought medical attention from her primary care physician, who was aware of the research interests of the senior author.…”

Section: Discussionmentioning

confidence: 99%

Diagnosis of Spinocerebellar Ataxia in the West Indies

Yearwood¹,

Rethi²,

Figueroa³

et al. 2018

Tremor and Other Hyperkinetic Movements

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Background: Access to medical care in many regions is limited by socioeconomic status, at both the individual and the community level. This report describes the diagnostic process of a family residing on an underserved Caribbean island where routine neurological care is typically addressed by general practitioners, and genetic diagnosis is not available through regular medical channels. The diagnosis and management of neurodegenerative disorders is especially challenging in this setting.Case Report: We diagnosed a family with spinocerebellar ataxia type 3 (SCA3) in an underdeveloped nation with limited access to genetic medicine and no full-time neurologist.Discussion: Molecular diagnosis of the SCAs can be challenging, even in developed countries. In the Caribbean, genetic testing is generally only available at a small number of academic centers. Diagnosis in this family was ultimately made by utilizing an international, pro bono, research-based collaborative process.Although access to appropriate resources, such as speech, physical, and occupational therapies, is limited on this island because of economic and geographical factors, the provision of a diagnosis appeared to be ultimately beneficial for this family. Identification of affected families highlights the need for access to genetic diagnosis in all communities, and can help direct resources where needed.

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Genetic diagnosis of Down syndrome in an underserved community

Cited by 6 publications

References 3 publications

Trends and predictions for survival and mortality in individuals with Down syndrome in Brazil: A 21‐year analysis

Trends and predictions for survival and mortality in individuals with Down syndrome in Brazil: A 21‐year analysis

Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community

Diagnosis of Spinocerebellar Ataxia in the West Indies

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