Consanguineous marriages and their detrimental outcomes in Pakistan: an urgent need for appropriate measures

Ullah, Muhammad Anzar; Husseni, Aisha Maryam; Mahmood, Syed Uzair

doi:10.18203/2394-6040.ijcmph20175757

Cited by 33 publications

(19 citation statements)

References 9 publications

(12 reference statements)

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“…Despite its limitations, this study highlights the need for more in-depth evaluation and reporting of clinical features to expand our understanding of the phenotypic heterogeneity associated with GAMT deficiency, especially in the undiagnosed adult population. Moreover, the clinical and genetic findings of this study will inform the management of other families affected with similar conditions in Pakistan, where the burden of genetic disorders is high owing to the high (~70%) consanguinity rate in the region [ 33 ]. The positive outcomes of early diagnosis and treatment reported in the literature have supported the screening criteria proposed by Wilson and Jungner and have already led to the inclusion of this devastating yet treatable condition in newborn screening panels in countries like Australia, Canada, USA and the Netherlands [ [8] , [9] , [10] , 34 , 35 ].…”

Section: Discussionmentioning

confidence: 99%

Adult GAMT deficiency: A literature review and report of two siblings

Modi

Khan

Lee

et al. 2021

Molecular Genetics and Metabolism Reports

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Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency disorder and an inborn error of metabolism presenting with progressive intellectual and neurological deterioration. As most cases are identified and treated in early childhood, adult phenotypes that can help in understanding the natural history of the disorder are rare. We describe two adult cases of GAMT deficiency from a consanguineous family in Pakistan that presented with a history of global developmental delay, cognitive impairments, excessive drooling, behavioral abnormalities, contractures and apparent bone deformities initially presumed to be the reason for abnormal gait. Exome sequencing identified a homozygous nonsense variant in GAMT : NM_000156.5:c.134G>A (p.Trp45*). We also performed a literature review and compiled the genetic and clinical characteristics of all adult cases of GAMT deficiency reported to date. When compared to the adult cases previously reported, the musculoskeletal phenotype and the rapidly progressive nature of neurological and motor decline seen in our patients is striking. This study presents an opportunity to gain insights into the adult presentation of GAMT deficiency and highlights the need for in-depth evaluation and reporting of clinical features to expand our understanding of the phenotypic spectrum.

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Section: Discussionmentioning

confidence: 99%

Adult GAMT deficiency: A literature review and report of two siblings

Modi

Khan

Lee

et al. 2021

Molecular Genetics and Metabolism Reports

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“…Consanguineous marriages have always been a problem in South Asian and Middle Eastern countries. Around 70% of marriages in Pakistan are consanguineous [6]. One of the major reasons for these increased number of consanguineous marriages is the lack of awareness about the genetic pathologies and associated diseases.…”

Section: Discussionmentioning

confidence: 99%

Are Consanguineous Marriages to Blame for Usher Syndrome Type 1, a Rare Disease in Pakistan?

Awan

Raffay

Liaqat

et al. 2020

Cureus

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Usher syndrome type I is a rare genetic autosomal recessive disease caused by mutations in specific genes that provide instructions for making proteins involved in normal hearing, vision, and balance. It is characterized by hearing impairment due to the inability of auditory nerves to send sensory input to the brain leading to hearing loss along with retinitis pigmentosa (RP), which is a progressive, bilateral, symmetrical retinal degeneration involving photoreceptor cells. We report a 32-year-old male patient who presented to us with complaints of night blindness and progressive vision loss for the past 20 years. He had bilateral hearing loss leading to deaf-mutism. In addition, his developmental milestones were delayed. His fundoscopic findings were consistent with RP and his electroretinography confirmed reduced retinal activity. Pure tone audiometry confirmed bilateral sensory neural hearing. His mother was a known case of Usher syndrome type 1. His family history was remarkable for multiple consanguineous marriages in both his parental and maternal families and a confirmed diagnosis of Usher syndrome in paternal uncle. The patient was tried on hearing aids and vitamin A medication but with minimal improvement in his overall condition. A multidisciplinary approach, involving an audiologist, speech, and language therapist was adapted to help the patient. Early genetic testing can help diagnose such cases in its early stages and genetic counseling regarding the detrimental effects of consanguineous marriages can play a very positive role in genetic diseases, especially those with autosomal recessive inheritance patterns.

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“…Various variables related to women's reproductive health and fertility behavior were selected based on literature [1,5,8,13,19,21,22,25]. These included age at rst birth (<20 years, 20-34 years, 35-49 years), gravidity (1-2, 3-5, 6 and above), parity (1-2, 3-4, 5 children and above), number of living children (none, 1-2, 3-4, 5 and above), ever terminated pregnancy (yes/no), antenatal care (ANC) visits during last pregnancy (less than 4 visits, 4 visits and above), skilled birth attendants (SBA) at delivery during the last pregnancy (yes/no), ideal family size (1-2, 3-4, 5 and above), fertility intention/desired family size (wants more children, wants no more, i.e.…”

Section: Reproductive Health and Fertility Behaviormentioning

confidence: 99%

Consanguineous Marriages and Their Association With Women’s Reproductive Health and Fertility Behavior in Pakistan: Secondary Data Analysis From Demographic and Health Surveys, 1990–2018

Iqbal

Zakar

Fischer

et al. 2020

Preprint

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Background: Pakistan has been showing consistently the highest prevalence of consanguinity. The popularity of consanguineous marriages is not declining in the country, because of social, cultural, and religious beliefs as well as economic advantages. However, couples also face various health related implications, such as poor pregnancy outcomes or multiple reproductive and fertility consequences, having adverse effects on mothers and their children. This research investigated the trend of consanguineous marriages and their association with women’s reproductive health and fertility behavior in Pakistan from 1990 to 2018.Methods: This study is based on a secondary data analysis, using all four waves of the Pakistan Demographic Health Surveys carried out during 1990 to 2018. The analysis is limited to women aged 15–49 years, who had given birth in the previous five years preceding each survey. Descriptive statistics, bivariable and multivariable logistic regression analysis was performed to determine the association of consanguinity with multiple characteristics related to socio-demographics, co-variates and women’s reproductive health and fertility behaviors. Results: The findings revealed an high but overall stable trend of consanguinity prevalence of about 63% during the last three decades. Consanguineous marriages were more prevalent amongst young and uneducated women, living in rural areas, with poorer wealth status and having less exposure of mass media to access information. A strong association of consanguinity was observed with women’s reproductive health and fertility behavior, particularly for women who gave first birth at younger age, had multi-gravida pregnancies, multi-parity, pregnancy termination, ANC visits and higher fertility.Conclusion: Consanguineous marriages are predominant in the patriarchal society of Pakistan. Findings revealed that consanguinity contributes significantly to women’s reproductive health and fertility behaviors. Appropriate counselling, educational and health promotional programs related to consanguinity should be designed and launched at community level to raise awareness about risks towards women’s reproductive health and fertility.

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Consanguineous marriages and their detrimental outcomes in Pakistan: an urgent need for appropriate measures

Cited by 33 publications

References 9 publications

Adult GAMT deficiency: A literature review and report of two siblings

Adult GAMT deficiency: A literature review and report of two siblings

Are Consanguineous Marriages to Blame for Usher Syndrome Type 1, a Rare Disease in Pakistan?

Consanguineous Marriages and Their Association With Women’s Reproductive Health and Fertility Behavior in Pakistan: Secondary Data Analysis From Demographic and Health Surveys, 1990–2018

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