Indian Family Research Articles

M ukherjee U., 2023, Race, Class, Parenting and Children’s Leisure. Children’s Leisurescapes and Parenting Cultures in Middle-class British Indian Families , Bristol, Bristol University Press, 182 p., 80 £

M ukherjee U., 2023, Race, Class, Parenting and Children’s Leisure. Children’s Leisurescapes and Parenting Cultures in Middle-class British Indian Families , Bristol, Bristol University Press, 182 p., 80 £

A novel SERPINC1 c.119G>A (p.Cys40Tyr) mutation with variable clinical expression in an Indian family.

Hereditary antithrombin (AT) deficiency due to mutations in SERPINC1 is known to be the most severe form of thrombophilia. We report three members in a family with hereditary AT deficiency with a novel mutation in exon 2 of SERPINC1, that is c.119 G>A (p.Cys40Tyr). Two brothers presented with acute pulmonary thromboembolism (PTE) at 18 and 21 years of age, whereas their 58-year-old father did not have any thrombotic episode till date. The in-silico prediction of the variant was found to be highly damaging by PolyPhen-2, SIFT and MutationTaster. Clinical exome sequencing did not show any strong coinherited thrombophilia genes, except SERPINE1 -844 G>A variant in homozygous state in the two affected brothers as compared to the father who was heterozygous for this variant. The additive effect of SERPINE1 variant in the clinical expression in two siblings cannot be ruled out, in the absence of any other known environmental triggering factors.

Attitude toward physical activity among Asian American family caregivers of persons living with dementia

This qualitative study aimed to explore attitudes toward physical activity behaviors in the context of dementia caregiving among Asian Indian, Chinese, Korean, and Vietnamese American family caregivers of persons living with dementia. We used qualitative data from verbatim transcripts of current caregivers (N = 21) from focus groups and individual interviews. Ethnically or linguistically matched moderators facilitated focus groups and interviews in four languages. Finalized themes included: (1) Physical activity and exercise are different.; (2) Exercise has many benefits.; (3) Health issues and stress from caregiving demotivate engaging in regular exercise.; (4) Prioritizing and planning exercises are necessary; and (5) Social support is essential to engage in physical activity. Caregiving limits the type of exercise some can do, depending on care recipients’ conditions. Efforts to help caregivers prioritize exercise and seek social support from others, including healthcare professionals, would be greatly needed to promote physical activity among this population.

Identifying the need for a nurse-driven palliative care intervention for American Indian and rural family caregivers.

The purpose of this qualitative study was to understand the needs of family caregivers (FCGs) from the perspectives of health care professionals delivering cancer care to American Indian and rural populations. A descriptive content analysis of 18 interviews with multidisciplinary health care professionals delivering cancer care at a rural cancer institute in the Great Plains region was conducted. We identified three themes: access, support, and awareness with six subthemes. Consideration of these core needs, coupled with the individual cultural circumstance, is critical in addressing disparities faced by American Indian/Alaska Native and rural FCGs. The availability of specialized health care services, like palliative care, can positively impact the experience of FCGs providing care. However, access is limited. The needs and challenges faced by American Indian/Alaska Native and rural FCGs described in this study can inform the development of a culturally responsive palliative care intervention. Nurses are well positioned to develop and lead this intervention, which will be the first of its kind. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

KBG Syndrome in 16 Indian Individuals.

We aimed to describe the clinical and genetic characteristics of 16 individuals with KBG syndrome (KBGS) from 13 Indian families. We retrospectively analyzed the clinical details of individuals with KBGS harboring a likely pathogenic/pathogenic variant in ANKRD11. We also analyzed their facial gestalt using Face2Gene and recorded the top three differential disorders suggested by the application. The most frequent clinical features observed in our cohort were as follows: learning and intellectual disability-14/15 (93%), skeletal abnormalities-14/15 (93%), postnatal short stature-13/15 (87%), brachydactyly-11/15 (73%), and characteristic facial appearance-13/15 (87%). We identified 12 single nucleotide variants (SNVs), including six recurrent and six novel variants, and a copy number variant in the 16q24.3 region encompassing ANKRD11 gene. The novel variants were as follows: p.(Gln1236Ter), p.(Asp884ThrfsTer93), p.(Arg1466GlyfsTer87), p.(Tyr2056Ter), p.(Leu955TrpfsTer22), and p.(Lys766ArgfsTer10). The identified SNVs in ANKRD11 clustered around exon 9. We observed a high concordance of Face2Gene in predicting KBGS.

Dentatorubral–Pallidoluysian Atrophy (DRPLA) in Three Successive Generations with Anticipation in an Indian Family

Dentatorubral–Pallidoluysian Atrophy (DRPLA) in Three Successive Generations with Anticipation in an Indian Family

A family physician for all Indian families: A vision for 2047

ABSTRACT As India progresses towards its centenary of independence in 2047, the need for a comprehensive and compassionate healthcare system that emphasizes the role of family physicians has never been more urgent. Family physicians serve as the bedrock of primary health care, providing a holistic approach that encompasses preventive, curative, and rehabilitative care for individuals across all stages of life. This vision for 2047 articulates a future where every Indian family has access to a dedicated family physician who addresses their healthcare needs and promotes health education, and community well-being.

Family system and problematic technology usage

Abstract Technology plays a dual role in human life, offering both beneficial and adverse effects. McDaniel and Coyne defined “technoference” as recurring interruptions in relationships due to technology use, leading to conflicts, decreased relationship and life satisfaction, and depressive symptoms. Systems theory suggests that technology fundamentally alters family dynamics, shifting from personal connections to isolation within households. The structural family perspective notes that technology often lacks established roles and boundaries. Approximately three out of four families seeking help at tertiary care centers report interpersonal issues related to technology use. This paper uses a case illustration to apply family systems theory in conceptualizing and planning interventions for problematic technology usage. It emphasizes that many effective intervention packages, primarily developed in Western contexts, can be adapted to foster healthy technology use and improve interpersonal relationships in Indian families.

A case report of Indian siblings with short stature due to novel variant in the CEP57 gene, causing Mosaic Variegated Aneuploidy Syndrome Type 2 and review of the phenotype of related patients

IntroductionMosaic Variegated Aneuploidy Syndrome 2 (MVA2) is a rare genetic disorder characterized by a variable percentage (25–50%) of constitutional mosaic aneuploidies. To our knowledge, only 15 cases worldwide with only 1 Indian family and six pathogenic variants of MVA2 have been described.Clinical featuresWe now report a 2nd Indian family with two female siblings who presented with short stature, dysmorphism, microcephaly, and a history of consanguinity.Diagnosis and interventionKaryotyping was reported to be normal (46, XX) in both siblings. Whole exome and Sanger sequencing revealed a homozygous c.1388_1391del(p.Lys463IlefsTer3) in exon 11 in the CEP57 gene (NM_014679.5), a novel variant that leads to the termination of protein translation causing MVA2. Testing of a phenotypically typical sibling showed a heterozygous status for the identified variant.ConclusionThis report highlights an important lesson for genetic testing. Our findings enrich the CEP57 mutational spectrum and emphasize the importance of genetic testing and karyotyping in patients with microcephaly and short stature.

Resilience among Rural South Indian Families during Covid-19 Pandemic: A Pilot Study

Pandemics have been in the history of mankind wiping out large number of people. COVID-19 pandemic in the 21st century has also taken a heavy toll on lives and has impacted every aspect of life. There have been several short-term and long-term implications on the families. Many families are still experiencing an ongoing negative impacts viz., loss of job, loss and threatened loss of loved ones, financial insecurity etc. Families were unable to meet the demands of children and elderly at home while being grateful for the quality time spent with family members. Material and Method: A comparative cross-sectional study was carried out to measure the level of resilience among families faced with and without COVID-19 infection during the pandemic in selected rural areas of Tamil Nadu, South India. FRS-16 was used to measure the resilience. Results: The study findings regarding the overall resilience revealed that 53% of the families had moderate resilience and 47% had high resilience. However, there was no statistical difference observed in the different domains of resilience such as Family Communication and Connectedness, Positive Framing and External Resources/Support between the families faced with and without COVID-19 infection. Discussion: The findings of this study corresponded to the findings of a study done in Indonesia with 68.9% of the families having moderate resilience during the COVID-19 pandemic. It has also been observed that a positive framing, family communication and connectedness have a positive influence on the family resilience. Conclusion: Family Resilience is a complex process; hence it is of high importance that adaptive strategies are enhanced in families to strengthen them in rising from adversities.

Examining the access to benefits and quality sterilization services among Muslim women in India

BackgroundThis research article examines the efficiency with which the Indian family planning programme provides care to Muslim women who opt to undergo tubectomies from public health facilities in terms of access to benefits/compensation as well as quality of services. The research subsequently intends to suggest suitable policies of affirmative action if required.MethodsThe research uses data from the women’s file from the latest round of the National Family Health Survey (NFHS-5, 2019–21). Adjusted odds ratios are used to examine the likelihood of Muslim women (i) receiving compensations offered for undergoing tubectomies in public health facilities by the government, (ii) receiving comprehensive information prior to their tubectomies and (iii) reporting a good quality of care during their procedures, in comparison with non-Muslim women.ResultsThe findings from the research indicate that Muslim women in India have lower odds of receiving state sponsored compensations in comparison with non-Muslim women in India (AOR = 0.67; CI: 0.60—0.76). Consequently, a lesser proportion of Muslim women reported receiving compensations in comparison with non-Muslim women. The difference in the receipt of compensations was 18 percentage points between both cohorts. Critically, despite their challenges in obtaining compensations, the findings from this research also indicate how Muslim women in India have higher odds of receiving comprehensive family planning information prior to their operation in comparison with non-Muslim women (AOR = 1.15; CI: 1.02—1.29).DiscussionGiven the existing dearth of evidence in family planning literature on the issue, this research article calls for greater attention and investments in understanding the reproductive health vulnerabilities of Indian Muslims, especially in the context of increasing social hostilities towards the community in India. In this regard, to promote the equitable delivery of family planning services, the findings from this research highlight the urgent need for institutional reforms that facilitate an easier access to public benefits among Indian Muslims.

Primary care perspectives on leptin and adiponectin in north Indian families with metabolic syndrome.

Urbanization, sedentary lifestyles, and dietary changes have all contributed to an increase in the prevalence of metabolic syndrome (MetS) in Indian populations during the past 10 years. Numerous markers have been investigated to determine if a person is at risk for developing MetS, with the bulk of them having to do with adipose tissue. Recently, adiponectin and leptin, two biomarkers with a high correlation to cardiometabolic health or disease, are of particular interest. In the general population of India, 100 persons were included. Body mass index (BMI), waist circumference, systolic and diastolic blood pressure, fasting blood glucose, plasma lipids, adiponectin, leptin, insulin, and the homeostasis model were measured to assess insulin resistance. We used binary logistic regression analysis to determine the connection between the researched factors and MetS and Spearman's analyses to evaluate correlations. In all, 200 participants (100 men and 100 women) were enrolled in the study. Men's and women's median ages were 53 and 48, respectively (P < 0.05). Men had significantly greater WHR, SBP, and DBP (P < 0.05, respectively). Women had significantly higher levels of triglycerides, LDL, insulin, adiponectin, leptin, and HOMA-IR (P < 0.05, respectively). Leptin-to-adiponectin ratio was significantly and positively correlated with BMI (r = 0.597, P < 0.001), waist circumference (r = 0.576, P < 0.001), triglycerides (r = 0.190, P = 0.001), insulin levels (r = 0.329, P < 0.000), and HOMA-IR (r = 0.301, P < 0.000). In this study, higher levels of LAR, together with higher levels of leptin and lower levels of adiponectin, were found to be significantly linked with MetS. To properly determine whether LAR can be a predictor of MetS, independent of confounding factors, research with adequate design must be conducted.

Exploring the Intersections of Cultural Constructs and Parental Beliefs: Autism Spectrum Disorder in Indian Families

Autism spectrum disorder (ASD) is a complex developmental disorder whose prevalence has continually increased over the years but its definitive cause remains unknown and thereby parental perceptions and beliefs about its cause are shaped by existing cultural notions. However, research has rarely focused on understanding the nature of these beliefs and their influence on parenting behaviors. India is home to several culturally diverse groups, but little attention is put toward understanding the diversity in cultural beliefs and perceptions of parents of children with autism. Drawing on semi-structured, in-depth interviews, this study demonstrates the cultural beliefs about ASD and elucidates the experiences of 20 parents who have a child with ASD from Chandigarh-Tricity, India. The study employs a qualitative methodology, and the analysis revealed different themes that are explored in the article.

Indian family relationships, marriage, and career choices in the context of globalization: A multigenerational evaluation

Indian family relationships, marriage, and career choices in the context of globalization: A multigenerational evaluation

A Theoretical Article: Exploring the Evolutionary Dynamics of Couples and Family Therapy

This article provides a comprehensive review of how the field of family therapy has evolved, tracing its roots from early practices influenced by eugenics to its current diverse theoretical frameworks, which are ever-expanding. In the mid-20th century, family therapy expanded beyond its eugenic roots, embracing diverse theoretical frameworks and giving rise to various therapeutic modalities like behavioral and emotionally focused family and couples therapy. However, due to cultural disparities, these concepts and models cannot holistically capture the essence of family therapy in India. They do not compute the central role of the intergenerational subsystem or understand hierarchical dynamics. What is deemed “okay” in the Western context does not hold true in the Indian context. Postmodern approaches show a marked improvement in dealing with these problems in cultural adaptations of family and couples therapy by integrating diverse therapeutic practices, technological advances, and cultural and diversity-sensitive practices. However, despite these advancements, the adapted modalities have a scope for improvement, posing a pressing need for research that bridges this gap. Moving forward research should focus on family change mechanisms, symptom improvement factors, and prioritizing culturally sensitive approaches to meet the unique needs of Indian families.

Critiquing Indian Middle‐Class Principles of Mobility: Examining Transgender Representation in Post‐Millennial OTT Media in India

ABSTRACTThis literature review critically examines the need to incorporate critiques of urban, middle‐class, Hindu, upper‐caste mediated regulation of transgender mobility within media analyses of transgender representation in contemporary films and other streaming (OTT) media in India. The essay explores how the real and imagined/narrative mobility of marginalized groups, such as Dalit women, Muslim women, sex workers, and transgender communities, has been historically disciplined by the cultural and political practices of the upper‐caste Hindu middle class family. Material‐discursive practices of this class upper‐caste, middle‐class Hindu family shape and get shaped by gendered and caste‐coded interests of neoliberal productivity and heteropatriarchal respectability, determining the ideal geographies of the city and the relational cartographies of the nation. Films and media also get influenced by and shape these discursive practices by prioritizing a middle‐class sense of place in their worldmaking efforts. The narrative schema of such cultural production designs the movement of characters in such a way that they move in directions considered recognizable, legible and acceptable for the Indian middle class family. The primary aim of this review is to delineate the literature on spatial imaginaries of the middle class family and how the cultural practices of this class imagine and render legible the marginalized, allowing for a critical analysis of the co‐production of middle‐class spatial control and transgender visibility in cultural texts like that of contemporary streaming media. Furthermore, this study explores the emplacement of the marginalized as evident in critiques of representations of Dalit, Muslim, and sex worker communities in Indian cinema, emphasizing the necessity of applying similar analyses to trans representation. This spatially sensitive critique is crucial for understanding transgender struggles in India, highlighting the importance of examining middle‐class spatial imaginaries that shape trans representation and the politics of regulated transgender (im)mobilities.

Transmembrane protein 53 craniotubular dysplasia (OMIM # 619727): The skeletal disease and consequent blindness of this new disorder

Craniotubular dysplasia, Ikegawa type (OMIM #619727) denotes the autosomal recessive skeletal disease identified in 2021 featuring blindness acquired in childhood. Five young members of four Indian families harbored a homozygous indel within TMEM53 (OMIM *619722), the gene that encodes transmembrane protein 53 (TMEM53). When intact, TMEM53 spans the nuclear envelope of osteoprogenitor cells, dampens BMP-SMAD signaling, and thereby slows bone formation. Consequently, defective TMEM53 accelerates osteogenesis. Herein, an American boy is compound heterozygous for a novel deletion and a novel missense mutation within TMEM53. His vision and sensorineural hearing became impaired. Radiographic survey revealed diploic thickening of his skull, broad calvarial and facial bones, skeletal modeling errors, vertebral body flattening, wide ribs, and osteopenia of expanded bones. DXA areal bone density (gm/cm2) Z-scores were low. His optic, auditory, and spinal canals were narrow. Mineral metabolism was intact. Serum alkaline phosphatase and osteocalcin levels were normal yet CTX was high. Iliac crest histomorphometry documented accelerated bone formation. His acute vision loss briefly improved following prednisone administration, optic canal decompression, and optic nerve sheath fenestration, but then progressed despite further surgeries and zoledronate treatment aimed to suppress bone turnover. Next generation sequencing of genes associated with elevated skeletal mass, including from high bone turnover, did not suggest an etiology. Whole genome sequencing then revealed within TMEM53: i) a paternally transmitted 54-base deletion, which included the mRNA splice acceptor site for exon 2 as well as 31 bases of exonic sequence (c. 62-23_92del), and ii) a maternally transmitted missense variant (c.650C > T, p.Ser217Leu: NM_024587.4/NP_078863.2) which is extremely rare in gnomAD (frequency = 0.000036), replaces Ser217 highly conserved across species, and is scored as damaging by SIFT and Mutation Taster. We call this new osteopathy TMEM53 craniotubular dysplasia.

Likelihood of a Novel Pathogenic LDLR Mutant Allele Inherited Preferentially within an Indian Family with Familial Hypercholesterolemia

Likelihood of a Novel Pathogenic LDLR Mutant Allele Inherited Preferentially within an Indian Family with Familial Hypercholesterolemia

The 2023 State of Indian Families: Challenges, Opportunities, and Development

India, a traditional collectivist country, has a complicated family system rooted in its diverse culture and religion. With nearly 302.4 million households in 2021, the country experienced various political, social, and economic challenges due to globalization and Westernization. Data from six nationally representative surveys are used in the present study. In this article, we have reported findings in four sections: (1) Demographics, (2) Family Wellness, violence, and empowerment, (3) Aging and grandparenthood, and (4) developmental initiatives and policies for augmenting family welfare in India. The main findings of the report provide an overview of the difficulties faced by Indian families such as poverty, alcohol abuse, casteism, and gender-based violence. Given these challenges, the country is seeing several promising changes, including a rise in women empowerment, age at first marriage, and fertility. India overcomes these challenges by understanding them systematically, reaching the most affected, and addressing societal challenges. The report concludes by calling policy makers for investment in education, infrastructure, and policy execution and evaluation. We expect the study results to contribute to India’s health and family welfare policymaking.

Functional characterization of thyroid peroxidase missense variants causing thyroid dyshormonogenesis in Asian Indian population.

Thyroid dyshormonogenesis (TDH) is a sub-group of congenital hypothyroidism with recessive inheritance resulting from disease causing variants in thyroid hormone biosynthesis pathway genes, like DUOX2, TG, TPO, SLC5A5, SLC26A4, IYD, DUOXA2, SLC26A7 and SECISBP2. Thyroid peroxidase (TPO) is a crucial enzyme involved in thyroid hormone biosynthesis and is one of the frequently mutated genes in patients with TDH. The purpose of the study is to describe the insilico and functional characterization of novel variants in TPO gene identified in patients with thyroid dyshormonogenesis. We performed exome sequencing in Indian patients with TDH. In the current study, we describe the results of patients with TPO gene mutations. Exome sequencing results were further analysed by sanger sequencing, computational studies and invitro functional studies such as immunofluorescence and enzyme assay. We identified nine biallelic disease-causing variants in the TPO gene in twelve patients from nine unrelated Indian families. Eight of the nine variants were novel. No recurrent variants were identified. Computational analysis of six missense variants showed that these amino acid substitutions caused changes in non-covalent interactions with the adjacent residues that may affect the TPO protein structure and function. In-vitro experimental data using immunofluorescence assay showed that these variants did not affect the plasma membrane localization of the TPO protein but caused significant loss of TPO enzymatic activity compared to wild type. Our study revealed multiple novel pathogenic variants in TPO gene in Indian patients, thereby expanding the genotype spectrum. Functional studies helped us to reveal the pathogenicity of the missense variants.