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Down syndrome is the most common genetic disorder among live born infants, which is associated with a number of congenital malformations and requires a huge medical and social cost. Here, we report a very rare association in an infant with Down syndrome and XY disorder of sex development (DSD). Bangladesh J Child Health 2020; VOL 44 (1) :48-51
Citations
Down syndrome arises from chromosomal non-disjunction during gametogenesis, resulting in an additional chromosome. This anomaly presents with intellectual impairment, growth limitations, and distinct facial features. Positive correlation exists between maternal age, particularly in advanced cases, and the global annual incidence is over 200,000 cases. Early interventions, including first and second-trimester screenings, have improved DS diagnosis and care. The manifestations of Down syndrome result from complex interactions between genetic factors linked to various health concerns. To explore recent advancements in Down syndrome research, we focus on the integration of artificial intelligence (AI) and machine learning (ML) technologies for improved diagnosis and management. Recent developments leverage AI and ML algorithms to detect subtle Down syndrome indicators across various data sources, including biological markers, facial traits, and medical images. These technologies offer potential enhancements in accuracy, particularly in cases complicated by cognitive impairments. Integration of AI and ML in Down syndrome diagnosis signifies a significant advancement in medical science. These tools hold promise for early detection, personalized treatment, and a deeper comprehension of the complex interplay between genetics and environmental factors. This review provides a comprehensive overview of neurodevelopmental and cognitive profiles, comorbidities, diagnosis, and management within the Down syndrome context. The utilization of AI and ML represents a transformative step toward enhancing early identification and tailored interventions for individuals with Down syndrome, ultimately improving their quality of life.
In the advent of technological revolution, genetic interaction has become a crucial aspect in the understanding of any diseases. Information on individual genetic variation is now used in translational genomics to implement precise diagnosis and personalized medicine. Finding causal genes for genetic diseases or exploring interaction of genes in diseases with genetic predisposition is the first step to getting insights into such diseases. The human genome project made a paradigm shift in thinking, especially in the developed countries affected by non-communicable diseases. Some cutting-edge technologies, including gene therapy and genome editing, hold the promise in better diagnosis and treatment of common to rare genetic diseases. Scientific communities are trying hard to accumulate all the genetic disease information from publicly available platforms. A genetic disease database of a country serves as a depository. Many developed and a few developing countries have already developed genetic disease databases, which could benefit early diagnosis and proper patient management. Unfortunately, Bangladesh is lagging behind in this aspect. It is imperative to develop genetic disease database in Bangladesh because of its large population of patients with genetic disease. In this review, we discuss the reasons for constructing a genetic disease database and how this database can help to fight against challenges arising from the genetic diseases in Bangladesh.
