What We Fail to See in Neuro-Genetic Diseases: A Bird’s Eye View from the Developing World

Abstract

Background: Progressive neurological genetic diseases are not rare. They cause psychosocial damages to its victims. This article focuses on common psychosocial issues faced by those from the developing world. Methods: A multicentre observational survey of 246 patients from teaching hospitals in Sri Lanka. Participants were clinically and genetically confirmed by neurologists and the Interdisciplinary Centre for Innovation in Biotechnology and Neuroscience (ICIBN) respectively from 2014 to 2018. Convenience sample with random geographical distribution. Factors were equally weighted. ANOVA, Student’s t-test and chi-square analysis were used. Statistical Software R Statistics—version 3.5 and one-sample t-test with CI = 95% was used. This study meets the ethical guidelines of the local institutional review boards which are in compliance with the Helsinki Declaration. Results: Sample included 184 males and 62 females of 3–76 years with either Duchenne muscular dystrophy (n=121), spinocerebellar ataxia ( n = 87) or Huntington disease ( n = 38). Mean income of the affected is lower than the standard average monthly income ( P ≤ .001). Consultation visits depend on the monthly income (CI 20421.074–34709.361; P ≤ .001). Conclusion: Poverty is inversely proportionate to the patients’ living conditions. As developing countries are financially challenged, it is a societal challenge to rebuild our values to enhance their living status.

Title-molecular diagnostics of dystrophinopathies in Sri Lanka towards phenotype predictions: an insight from a South Asian resource limited setting

“…It is notable that diagnostic delays persist in traditionally disadvantaged groups, such as patients from developing countries and with lower socioeconomic status, because access to subspecialty care and genetic testing is difficult for patients from developing countries [ 7 ], including Sri Lanka [ 6 ]. (Fig.…”

“…Even though the average age of diagnosis for DMD remained over a decade as 5 years, it has been reported that the average age of diagnosis in Europe has decreased below the age of 3 years, reflecting the impact of enhanced access to molecular diagnostics and increased primary physician awareness [ 5 ]. In contrast, diagnostic delays in DMD persist with notable frequency within traditionally marginalized populations encompassing individuals hailing from developing nations and those of a lower socioeconomic stratum [ 6 , 7 ].…”

Gene therapy for selected neuromuscular and trinucleotide repeat disorders – An insight to subsume South Asia for multicenter clinical trials

“…In step with the World Health Organization’s vision of “harnessing genomic knowledge and having it contribute to health equity, especially among developing nations”, the corresponding author of this article received a donation of equipment through the International Brain Research Organization- Asia Pacific Regional Committee (IBRO-APRC) from National Institute of Neurological Disorders and Stroke (NINDS), of the National Institute of Health (NIH) USA in setting up, the only free genetic testing service in the state sector for selected neurodegenerative and neuromuscular disorders in Sri Lanka, which currently provides free genetic testing reports ( Samaranayake et al, 2020 ), a DNA bank in a developing country, Sri Lanka, with samples from over 2000 patients with neurological disorders that include 623 samples from patients with rare diseases ( Wijekoon et al, 2020 ), A Brain Bank” - collections of 76 autopsy aging brain samples, performed with histopathological/immunohistochemical staining for neuropathology with genotyping for selective candidate genes, and Human resource development through international training scholarships for postgraduates and Neuroscience workshops conducted in Sri Lanka with funding from IBRO- APRC. Moreover Double Doctoral Opportunities with international universities are available and ongoing.…”

“…the only free genetic testing service in the state sector for selected neurodegenerative and neuromuscular disorders in Sri Lanka, which currently provides free genetic testing reports ( Samaranayake et al, 2020 ),…”

Duchenne Muscular Dystrophy from Brain to Muscle: The Role of Brain Dystrophin Isoforms in Motor Functions

“…Diagnostic delays in DMD remain frequent in traditionally disadvantaged groups, including patients from developing countries and those with a lower socioeconomic status [30,31]. Therefore, a potential approach could be suggested that involves identifying young male children with delayed developmental milestones and examining them for suggestive clinical symptoms of muscular dystrophy, followed by performing a CPK test.…”