Amish Community Research Articles

Cross-sectional survey on genetic testing utilization and perceptions in Wisconsin Amish and Mennonite communities.

Amish and Mennonite (Plain) communities have increased prevalence of many recessively inherited disorders due to founder variants that can be identified using next-generation sequencing (NGS). We assessed newborn screening (NBS) utilization, prior genetic testing, and perceptions of genetic testing among Wisconsin Plain communities to guide implementation and utilization of a population-specific NGS gene panel testing. A mailed paper survey (N = 959) of demographics, NBS utilization, prior genetic testing, and preferences for categorical genetic disorder and defined clinical context testing was developed. Overall response rate was 39% (N = 378; 183 Amish, 193 Mennonite; 2 not Amish/Mennonite). Mennonites were more likely to respond in favor of carrier screening for metabolic disorders and other surgical conditions and less likely to respond in favor of asymptomatic testing for neurologic disorders and lethal disorders compared to Amish. Reported utilization of NBS was positively associated with stated interest in genetic testing for an asymptomatic child. Reported prior genetic testing was positively associated with stated interest in carrier screening and negatively associated with testing a symptomatic child. Although Plain community members share many common outward characteristics, our survey responses suggest diversity in their views of genetic testing and support laboratory methods that can be flexible to varied needs of individuals.

Consequences of a Rare Complement Factor H Variant for Age-Related Macular Degeneration in the Amish.

PurposeGenetic variants in the complement factor H gene (CFH) have been consistently implicated in age-related macular degeneration (AMD) risk. However, their functional effects are not fully characterized. We previously identified a rare, AMD-associated variant in CFH (P503A, rs570523689) in 19 Amish individuals, but its functional consequences were not investigated.MethodsWe performed genotyping for CFH P503A in 1326 Amish individuals to identify additional risk allele carriers. We examined differences for age at AMD diagnosis between carriers and noncarriers. In blood samples from risk allele carriers and noncarriers, we quantified (i) CFH RNA expression, (ii) CFH protein expression, and (iii) C-reactive protein (CRP) expression. Potential changes to the CFH protein structure were interrogated computationally with Phyre2 and Chimera software programs.ResultsWe identified 39 additional carriers from Amish communities in Ohio and Indiana. On average, carriers were younger than noncarriers at AMD diagnosis, but this difference was not significant. CFH transcript and protein levels in blood samples from Amish carriers and noncarriers were also not significantly different. CRP levels were also comparable in plasma samples from carriers and noncarriers. Computational protein modeling showed slight changes in the CFH protein conformation that were predicted to alter interactions between the CFH 503 residue and other neighboring residues.ConclusionsIn total, we have identified 58 risk allele carriers for CFH P503A in the Ohio and Indiana Amish. Although we did not detect significant differences in age at AMD diagnosis or expression levels of CFH in blood samples from carriers and noncarriers, we observed modest structural changes to the CFH protein through in silico modeling. Based on our functional and computational observations, we hypothesize that CFH P503A may affect CFH binding or function rather than expression, which would require additional research to confirm.

Rituals of Contagion in Closed Religious Communities: A Case Study of Amish and Mennonite Communities in the USA During the Beginning of the COVID-19 Pandemic.

At the onset of the COVID-19 pandemic, government and medical guidelines emphasized social distancing to limit exposure. These guidelines significantly impacted closed religious communities, particularly those opposed to modern technologies, such as Amish and Mennonite communities. How did these religious communities respond to COVID-19 policies in the USA? We draw data from Ohio and Pennsylvania scribe entries published in an Amish/Mennonite correspondence newspaper. While some of these communities altered church rituals to comply with government directives, others maintained communal worship without disruption. Mennonite communities were more likely to conform to guidelines.

Genomewide Association Study of Retinal Traits in the Amish Reveals Loci Influencing Drusen Development and Link to Age-Related Macular Degeneration.

PurposeThe purpose of this study was to identify genetic risk loci for retinal traits, including drusen, in an Amish study population and compare these risk loci to known risk loci of age-related macular degeneration (AMD).MethodsParticipants were recruited from Amish communities in Ohio, Indiana, and Pennsylvania. Each participant underwent a basic health history, ophthalmologic examination, and genotyping. A genomewide association analysis (GWAS) was conducted for the presence and quantity of each of three retinal traits: geographic atrophy, drusen area, and drusen volume. The findings were compared to results from a prior large GWAS of predominantly European-ancestry individuals. Further, a genetic risk score for AMD was used to predict the presence and quantity of the retinal traits.ResultsAfter quality control, 1074 participants were included in analyses. Six single nucleotide polymorphisms (SNPs) met criteria for genomewide significance and 48 were suggestively associated across three retinal traits. The significant SNPs were not highly correlated with known risk SNPs for AMD. A genetic risk score for AMD provided significant predictive value of the retinal traits.ConclusionsWe identified potential novel genetic risk loci for AMD in a midwestern Amish study population. Additionally, we determined that there is a clear link between the genetic risk of AMD and drusen. Further study, including longitudinal data collection, may improve our ability to define this connection and improve understanding of the biological risk factors underlying drusen development.

Telemedicine in the Amish and Mennonite communities of Wisconsin.

The Plain Community (PC) is a medically underserved group found predominantly in the northeastern and midwestern USA. Due to the community's founder population with few converts and infrequent outside marriage, metabolic and genetic disorders are more prevalent. Individuals in the PC experience geographic, financial, and cultural barriers when accessing healthcare. In Wisconsin, a collaboration between clinicians at a rural community health clinic and the academic medical clinic established an outreach clinic for medical genetics located in a rural location closer to a Wisconsin PC which consists of both Amish and Mennonite communities. However, patients with acute medical concerns requiring more urgent genetics care must travel to the academic center. Telemedicine (TM) is a technology that increases access to healthcare, often reducing financial and travel barriers. Using survey tools, we explored whether TM could be used to provide genetic services to individuals in the Wisconsin PC at an outreach clinic. Results indicated that 36% of survey participants responded favorably to receiving services by TM at a clinic designed for the PC. Members of the Mennonite community are significantly more likely to consider receiving services via TM than those of the Amish community. The results of the surveys indicate potential utility of TM at the outreach clinic as alternative way to improve access to genetic and other subspecialty services for the PC.

Religious Responses to a Pandemic

During historic plagues some religious advocates attributed a plague to the actions of a deity, and this claim has also been applied to the COVID-19 pandemic. Most contemporary religious leaders and believers, however, accepted secular analysis of the pandemic, and complied, to varying degrees, with public health restrictions and remedies. But some religious leaders and groups defied these measures and had much higher rates of infections and deaths than the general population. Case studies of selected groups can expand our knowledge of these impacts and reactions. I focus especially on Amish and Ultra-Orthodox Jewish communities, two insular religious subcultures which have disparaged the sciences and tried to maximize their autonomy and cultural separateness from the surrounding society. Both internal and contextual factors are important in understanding their reactions to the pandemic.

Genetic variants in the SHISA6 gene are associated with delayed cognitive impairment in two family datasets.

Studies of cognitive impairment (CI) in Amish communities have identified sibships containing CI and cognitively unimpaired (CU) individuals. We hypothesize that CU individuals may carry protective alleles delaying age at onset (AAO) of CI. A total of 1522 individuals screened for CI were genotyped. The outcome studied was AAO for CI individuals or age at last normal exam for CU individuals. Cox mixed-effects models examined association between age and single nucleotide variants (SNVs). Three SNVs were significantly associated (P < 5 × 10-8 ) with AAO on chromosomes 6 (rs14538074; hazard ratio [HR] = 3.35), 9 (rs534551495; HR = 2.82), and 17 (rs146729640; HR = 6.38). The chromosome 17 association was replicated in the independent National Institute on Aging Genetics Initiative for Late-Onset Alzheimer's Disease dataset. The replicated genome-wide significant association with AAO on chromosome 17 is located in the SHISA6 gene, which is involved in post-synaptic transmission in the hippocampus and is a biologically plausible candidate gene for Alzheimer's disease.

Phenylalanine hydroxylase (PAH) deficiency in old order Amish communities: from genotype to clinical management.

Phenylalanine hydroxylase (PAH) deficiency in old order Amish communities: from genotype to clinical management.

Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster County.

Genetically isolated populations that arise due to recent bottleneck events have reduced genetic variation reflecting the common set of founders. Increased genetic relatedness among members of isolated populations puts them at increased risk for some recessive disorders that are rare in outbred populations. To assess the burden on reproductive health, we compared frequencies of adverse reproductive outcomes between Amish couples who were both heterozygous carriers of a highly penetrant pathogenic or likely pathogenic variant and noncarrier couples from the same Amish community. In addition, we evaluated whether overall genetic relatedness of parents was associated with reproductive outcomes. Of the 1824 couples included in our study, 11.1% were at risk of producing a child with an autosomal recessive disorder. Carrier couples reported a lower number of miscarriages compared to noncarrier couples (p=0.02), although the number of stillbirths (p=0.3), live births (p=0.9), and number of pregnancies (p=0.9) did not differ significantly between groups. In contrast, higher overall relatedness between spouses was positively correlated with number of live births (p < 0.0001), pregnancies (p < 0.0001), and stillbirths (p=0.03), although not with the number of miscarriages (p=0.4). These results highlight a complex association between relatedness of parents and reproductive health outcomes in this community.

A Pilot Study: Using the Health Belief Model to Understand Cannabidiol Use in One Amish Community

Amish use of complementary and alternative medicine is common, but little is known about their opinion of cannabidiol. Hemp legalization has popularized cannabidiol, making it available to Amish whose traditions limit access to scientific information. The purpose of this pilot study is to gain an understanding of cannabidiol use in one Old Order Amish community. A researcher-developed questionnaire was mailed to 60 members of one Amish district. The Medicinal Cannabidiol Survey for an Amish Population was adapted from the Medicinal Cannabis Survey for General Practitioners to the specification of cannabidiol, Amish cultural relevance, and the six theoretical constructs of the health belief model. A content validity survey was completed with an overall item-level content validity index score of .92. Most respondents reported hearing discussions in the Amish community regarding cannabidiol [81.8% (n = 9)]. Slightly more agreement was found within the 10 benefit construct statements (40%) compared to six barrier statements (36.5%). Low agreement was observed among all nine questionnaire statements addressing Amish perceived threat to using cannabidiol. The barrier statement that cannabidiol cost prohibits its use had the highest agreement [90.9% (n = 10)] among all statements, which may be a stronger barrier when considering Amish culture. Higher agreement among the benefit construct compared to lower agreement among statements surrounding Amish perceived threat of cannabidiol suggests the likelihood of their cannabidiol use. A major limitation of this study was the sample size; therefore, the tool should be used in a large Amish sample to explore the findings of this pilot study.

Perceived Health Care Needs of Amish Populations in Two Newly Established Districts

The Amish population in the United States is growing rapidly, leading to many new Amish communities. This mixed-methods study establishes the demographic characteristics within two newly formed Amish districts in New York State and determines the community's perceived health care needs. The study targeted married individuals within the two districts, utilizing informational meetings, individual meetings, and the creation of a Perceived Health Care Needs Questionnaire. The findings included baseline demographics, barriers to health care access, desired health care provider qualities, and perceptions related to health care costs. Conclusions: The Amish are an underserved population with significant barriers to health care, and newly established districts located in rural geographical areas where Amish communities previously did not exist face additional challenges. Opportunities exist for health care providers to help the newly established Amish districts meet their desired health care needs in a culturally competent manner.

Kentucky Anabaptists' Knowledge of Newborn Screening

The Plain Anabaptist population in Kentucky is growing, with the Amish population alone expected to double about every 20 years. Anabaptists in Kentucky are largely composed of Amish (both Old Order and New Order) and Old Order and Conservative Mennonites. All Anabaptists experience an increased incidence of recessive genetic disorders. Newborn screening (NBS) is a state-regulated program that identifies inherited and congenital disorders and conditions. The purpose of this study is to determine the knowledge of Kentucky Amish and Mennonite communities regarding NBS. A researcher-adapted questionnaire was mailed to Kentucky Amish and Mennonite households, and 292 respondents returned the questionnaire. The majority (85.2%) reported at least "a little" knowledge of NBS; however, only 6.8% reported "a lot" of knowledge. Respondents identified the midwife as the most common source of information related to NBS; however, 18% reported NBS was not offered by any provider. There was a statistically significant relationship between knowledge of NBS and children receiving NBS, indicating that knowledge of NBS increased participation in NBS. As the midwife is the most common source of NBS knowledge, an educational program for midwives as well as the Anabaptist communities throughout Kentucky is planned.

A Sturdy Sapling in the Trans-Appalachian West: The Origins and Development of the Holmes County Amish Community, 1809–1846

For five states carved out of the Northwest Territories, the first half of the nineteenth century was a frontier era, replete with the first European settlers and the development of the first towns. As with any historical narrative, it is necessary to "reach" on either side of that era to provide context to the era in question. It is with this chronological connection in mind that the earliest history of what is known today as the Greater Holmes County Amish settlement is examined, specifically the arrival and growth of the Amish in the Walnut Creek area on the east side of Holmes County. The theme of this article is the "chain of migration" that describes the trans-Appalachian migration of the Amish into the Ohio country. The links in this chain include the kinship and familial connections, coupled with information and encouragement that bridged the divisions brought about by families and individuals moving from Pennsylvania into Ohio. The consequence of these linkages was the redevelopment of a common ecological space that was sustainable and viable, and it is these networks that defined the initial shape of the settlement itself during its early development in and around Walnut Creek. In turn, these early settlement patterns still influence the social and cultural makeup of the Greater Holmes County Amish settlement today.

771 Improving Burn Care in the Amish Community: A Qualitative Study of Strengths and Needs

IntroductionAmish communities present with a higher risk for sustaining traumatic burn injuries; thus, these communities have a high need for culturally competent burn care. Although homeopathic remedies for mild to moderate burn injuries have been studied in Amish communities, little is known about hospital-community partnerships to facilitate culturally competent burn care, particularly with more severe injuries. The current study aimed to 1) understand the successful aspects of an existing hospital-community partnership for facilitating culturally sensitive burn care for Amish communities, and (2) identify the ongoing physical, structural, and behavioral health needs of this population as the partnership continues to develop.MethodsQualitative data from 12 Amish caregivers who participate on a burn/wound team or an oil therapy team, were collected on through a focus group interview. Caregivers identified as White, were majority male (83%), and resided in Amish communities. Retrospective thematic analysis was used to analyze the qualitative data. Five major themes (i.e., informational needs, strengths of Amish burn care, behavioral health concerns, behavioral health resources, and preferred teaching methods) evolved.ResultsResults indicated that Amish caregivers displayed a great curiosity and openness to learning about all aspects of recommended burn care from the medical providers. Caregivers also cited their traditional (homeopathic) burn care procedures (e.g., oil therapy) as strengths, while simultaneously maintaining that their relationship to the hospital is a valuable part of their burn care. Relating to behavioral health, caregivers highlighted difficulties in helping their children cope with burn injuries and pain during rehabilitation and treatment. Caregivers emphasized the role of strong social support that the Amish community provides to burn survivors. Additionally, caregivers stressed the significance of delivering burn care information in a form that is culturally appropriate for their community.ConclusionsResults of this study provide important considerations that other accredited burn centers may consider when establishing similar partnerships to enhance their delivery of culturally competent medicine for Amish burn survivors.

Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B

BackgroundFamilial hypercholesterolemia (FH) due to a founder variant in Apolipoprotein B (ApoBR3500Q) is reported in 12% of the Pennsylvania Amish community. By studying a cohort of ApoBR3500Q heterozygotes and homozygotes, we aimed to characterize the biochemical and cardiac imaging features in children and young adults with a common genetic background and similar lifestyle.MethodsWe employed advanced lipid profile testing, carotid intima media thickness (CIMT), pulse wave velocity (PWV), and peripheral artery tonometry (PAT) to assess atherosclerosis in a cohort of Amish ApoBR3500Q heterozygotes (n = 13), homozygotes (n = 3), and their unaffected, age-matched siblings (n = 9). ApoBR3500Q homozygotes were not included in statistical comparisons.ResultsLDL cholesterol (LDL-C) was significantly elevated among ApoBR3500Q heterozygotes compared to sibling controls, though several ApoBR3500Q heterozygotes had LDL-C levels in the normal range. LDL particles (LDL-P), small, dense LDL particles, and ApoB were also significantly elevated among subjects with ApoBR3500Q. Despite these differences in serum lipids and particles, CIMT and PWV were not significantly different between ApoBR3500Q heterozygotes and controls in age-adjusted analysis.ConclusionsWe provide a detailed description of the serum lipids, atherosclerotic plaque burden, vascular stiffness, and endothelial function among children and young adults with FH due to heterozygous ApoBR3500Q. Fasting LDL-C was lower than what is seen with other forms of FH, and even normal in several ApoBR3500Q heterozygotes, emphasizing the importance of cascade genetic testing among related individuals for diagnosis. We found increased number of LDL particles among ApoBR3500Q heterozygotes but an absence of detectable atherosclerosis.

EP076: Pancreatic lipase deficiency cohort in the plain population

The Community Health Clinic (CHC) is a non-profit healthcare facility located in Topeka, Indiana, that provides specialized genetics care consistent with Amish and Mennonite community values. Since most Plain patients pay out of pocket for healthcare costs, the CHC aims to provide affordable medical genetics care for patients. Targeted testing for many founder variants in the Plain community is available through the Clinic for Special Children (CSC) at a very affordable cost and with rapid turnaround time.

Review: The Lives of Amish Women, by Karen M. Johnson-Weiner; Serpent in the Garden: Amish Sexuality in a Changing World, by James A. Cates

Book Review| February 01 2022 Review: The Lives of Amish Women, by Karen M. Johnson-Weiner; Serpent in the Garden: Amish Sexuality in a Changing World, by James A. Cates The Lives of Amish Women. By Karen M. Johnson-Weiner. Johns Hopkins University Press, 2020. 320 pages. $49.95 hardcover; ebook available.Serpent in the Garden: Amish Sexuality in a Changing World. By James A. Cates. Johns Hopkins University Press, 2020. 224 pages. $39.95 hardcover; ebook available. George Adams George Adams Susquehanna University Search for other works by this author on: This Site PubMed Google Scholar Nova Religio (2022) 25 (3): 144–146. https://doi.org/10.1525/nr.2022.25.3.144 Views Icon Views Article contents Figures & tables Video Audio Supplementary Data Peer Review Share Icon Share Facebook Twitter LinkedIn MailTo Tools Icon Tools Get Permissions Cite Icon Cite Search Site Citation George Adams; Review: The Lives of Amish Women, by Karen M. Johnson-Weiner; Serpent in the Garden: Amish Sexuality in a Changing World, by James A. Cates. Nova Religio 1 February 2022; 25 (3): 144–146. doi: https://doi.org/10.1525/nr.2022.25.3.144 Download citation file: Ris (Zotero) Reference Manager EasyBib Bookends Mendeley Papers EndNote RefWorks BibTex toolbar search Search Dropdown Menu toolbar search search input Search input auto suggest filter your search All ContentNova Religio Search The tenaciousness with which most Amish communities have maintained their traditional values and separatist lifestyle in contemporary America is quite remarkable. Nonetheless, the insulation of Amish communities has become increasingly fragile and difficult to maintain. Constantly rising land prices and the concomitant shrinkage of available farm land to accommodate the needs of a growing new generation of Amish farmers have led to ever-increasing interaction with “English,” or members of mainstream, non-Amish American culture. As curious Amish, with or without permission of the community, gain access to the larger world through daily economically driven interactions with non-Amish and through the ubiquitous (even among the Amish) availability of smart phones and the internet, the traditional separatist status of Amish communities is gradually weakening. Indeed, once a community has achieved sufficient recognition to be the subject of a reality television show, one might argue that the separatist status of that community has been... You do not currently have access to this content.

Mast Syndrome Outside the Amish Community: SPG21 in Europe.

Background:Mast syndrome is a rare disorder belonging to the group of hereditary spastic paraplegias (HSPs). It is caused by bi-allelic mutations in the ACP33 gene, and is originally described in Old Order Amish. Outside this population, only one Japanese and one Italian family have been reported. Herein, we describe five subjects from the first three SPG21 families of German and Austrian descent.Methods:Five subjects with complicated HSP were referred to our centers. The workup consisted of neurological examination, neurophysiological and neuropsychological assessments, MRI, and genetic testing.Results:Onset varied from child- to adulthood. All patients exhibited predominant spastic para- or tetraparesis with positive pyramidal signs, pronounced cognitive impairment, ataxia, and extrapyramidal signs. Neurophysiological workup showed abnormal motor and sensory evoked potentials in all the patients. Sensorimotor axonal neuropathy was present in one patient. Imaging exhibited thin corpus callosum and global brain atrophy. Genetic testing revealed one heterozygous compound and two homozygous mutations in the ACP33 gene.Conclusion:Herein, we report the first three Austrian and two German patients with SPG21, presenting a detailed description of their clinical phenotype and disease course. Our report adds to the knowledge of this extremely rare disorder, and highlights that SPG21 must also be considered in the differential diagnosis of complicated HSP outside the Amish community.

Common Ground: An Examination of Rural Planning and the Growing Amish Presence in Missouri

How do rural communities in Missouri balance the potentially conflicting land use and economic planning needs between incoming and growing Amish populations and non-Amish populations? This qualitative research addresses a gap in the literature by examining the growing Amish population in rural America through the lens of community planning. A comparative case study was conducted in three Amish communities in Missouri and included interviews with public officials who engage in planning and planning-related tasks and an Amish leader at each case site. This project finds that Amish growth and expansion is resulting in both community conflicts and collaborative efforts in rural areas. The project culminates in the development of implications that planners might consider in order to actualize better outcomes for rural communities in the midst of the growth of this ethnoreligious group. [Abstract by author.]

Association of a locus on chromosome 17 with earlier age at onset of cognitive impairment in a familial Amish dataset

Studies of cognitive impairment (CI) in Amish communities have identified sibships containing multiple CI and cognitively normal (CN; unaffected after age 75) individuals. We hypothesize that these CN individuals may carry protective alleles delaying age at onset (AAO) of CI, preserving cognition in older age despite increased genetic risk. We conducted a genome-wide study (GWAS) to identify loci associated with AAO of CI in these individuals.1,522 individuals aged 43-99 (mean age 73.1, 42% men) screened at least once for CI using the modified mini-mental status exam (3MS) were genotyped using Illumina chipsets. Genotypes were imputed for 7,815,951 single nucleotide variant (SNV) with minor allele frequency (MAF) > 1%. The outcome studied was age, defined as 1) age at the first 3MS result indicating impairment (AAO; 3MS <87; 362 CI individuals) or 2) age at last normal exam (3MS >=87, 1,160 CN individuals). Cox mixed-effects models examined association between age and each SNV, adjusting for sex, population structure, and familial relationships. To replicate genome-wide significant findings, SNVs in a 1 Megabase region centered on the peak SNV were examined for association with age using these same methods in the NIA-LOAD family study dataset (1,785 AD cases, 1,565 controls, mean age 73.5; Kunkle et al., 2019).Three SNV were significantly associated (p<5 x 10-8 ) with AAO in the Amish, on chromosomes 6 (rs146729640; Hazard Ratio (HR)=6.38), 9 (rs534551495; HR=2.82), and 17 (rs14538074; HR=3.35). Each region found the common allele associated with later AAO. Replication analysis detected association at rs146729640 on chromosome 17, with nominal statistical significance (HR=1.49, p=0.02).The replicated genome-wide significant association with AAO on chromosome 17 implicates the SHISA6 gene, which is involved in post-synaptic transmission in the hippocampus. GWAS studies have not reported association in this region with AD risk or AOO, suggesting this might be a novel locus influencing onset of cognitive impairment, and highlights the power of using unique populations.