CLINICAL PROFILE, MANAGEMENT, AND ADVANCES IN RESEARCH OF DOWN SYNDROME

An additional chromosome number 21 is a characteristic of the genetic condition known as Down syndrome.  Physical attributes such as almond-shaped eyes, a shorter neck, and Deflated fascial structure are frequently seen in individuals with Down syndrome.  Trisomy 21 is another term for the disorder, which has also been known historically as Down's syndrome or mongolism, after Dr. John Langdon Down, who described its features for the first time in 1866.  Later studies by Jerome Lejeune in 1958 proved that chromosome 21 duplicate is the cause of Down syndrome [1, р. 559].

AIM: In order to get better outcomes and people's standard of living with Down syndrome (DS), this article will give a summary of the clinical Qualities of DS and emphasize recent developments in research and therapy.

Method: This is a retrospective observational analysis of literature and studies performed on DS patients diagnosed, evaluated, managed, and followed up in genetic and metabolic unit of a tertiary care center.

Result: The clinical phenotype of DS is described by floppy infant syndrome, short stature and a short neck, flat nasal bridge, tongue protrusion, just one palmar wrinkle, sandal gap, an abnormally bent or curved finger, brachydactyly, microcephaly, small ears, open mouth, squint and umbilical hernia, flat facies, upslanting palpebral fissures, epicanthic folds, brachycephaly with a flat occiput, hypotonia, open mouth, small ears, and squint and umbilical hernia [4, р. 53]. Cases with DS were included in the analysis; most DS patients were between the ages of 0 and 5. The average mother is older than 27. Mongoloid slant, ear deformities, epicanthic folds, and a flat facial profile were among the craniofacial characteristics. There were fewer dermatoglyphic and characteristic limb abnormalities. The most prevalent clinical characteristic was discovered to be hypotonia. Study of whole sets of chromosomes was executed in every case, and trisomy 21 was typically detected, although a shift and mosaic are few [5, р. 1].

Complications-cardiac defects (maximum), tetralogy of Fallot, ventricular and atrial septal flaws, and cardiac abnormalities are among the cardiac issues, Thyroid dysfunction, problems with the central nervous system (CNS) such as developmental delays. These included clinodactyly, brachydactyly, unilateral, or bilateral simian crease, and sandle sign. Among the ocular anomalies were Brushfield spots, nystagmus, and hypertelorism [3].

Management-treating complications like heart disease—early Congenital heart defect (CHD) repair is advised for infants amenable to biventricular repair, Handling Down syndrome involves a comprehensive approach that includes nutritional rehabilitation, Speech treatment, career counseling, physical therapy, and psychological services. Among the successful methods are: Plans for Individualised Education (IEPs): creating thorough IEPs that are suited to each student with Down syndrome's Distinct requirements, learning preferences, and skills. Adaptive and assistive technologies, Participation of the community and awareness, peer Encouragement and mentoring programs, All-encompassing education models, and family involvement [6].

There are numerous distinct areas of current study on Down syndrome. Research on mental development examines cutting-edge teaching strategies such as the Early Start Denver Model (ESDM), which has shown encouraging Language and cognitive skills. About (approx.) 50% of Individuals with Down syndrome have congenital cardiac issues, hence health care research focusses on Heart abnormalities. Current studies are trying to improve surgery results and care. Targeted therapy promise is demonstrated by ongoing genomic research, such as those examining the function of the DYRK1A gene in cognition. The impact of inclusive practices is emphasised by studying including people in society [2, р. 6]. Over-35-year-olds with the early development of Down syndrome Alzheimer's illness; study attempts to offer long-term Consideration and ageing Encouragement [2, р. 10].

Conclusion: In-depth review underscores the multidimensional nature of Down syndrome, highlighting Continued investigation and interventions across cognitive, Wellbeing, and social spheres. Current endeavours encompass cognitive interventions tailored for learning enhancement, drug therapies targeting cognitive function and Related health circumstances, DNA and molecular research seeking targeted treatments, and diverse health and social interventions. Clinical trials exploring these areas underscore the evolving landscape in studying Down syndrome.

References:

1. Al-Nbaheen MS. Analysis of Downs syndrome with molecular techniques for future diagnoses // Saudi J Biol Sci. — 2018. — V.25(3). — P.558–562. — [электронный ресурс] — Режим доступа. — URL: https://pmc.ncbi.nlm.nih.gov/articles/PMC5910654/ (дата обращения 12.03.2025)
2. Antonarakis S.E. Down syndrome // Nat Rev Dis Primers. — 2020. — V.6. — P.1-20. — [электронный ресурс] — Режим доступа. — URL:  https://doi.org/10.1038/s41572-019-0143-7 (дата обращения 12.03.2025)
3. Kathleen Fergus. Down Syndrome: Symptoms and Intellectual and Physical Traits [Электронный ресурс]: сайт. – URL: https://www.verywellhealth.com/symptoms-of-down-syndrome-1120463 (дата обращения: 12.03.2025)
4. Panigrahi I. Clinical Profile of Indian Children with Down Syndrome // Pediatr Genet.  — 2023. — №12. — P.53–57. — [электронный ресурс] — Режим доступа. — URL: https://pmc.ncbi.nlm.nih.gov/articles/PMC9848754/ (дата обращения 12.03.2025)
5. Shashank T. Advancements and Interventions in Down Syndrome: Comprehensive Review of Current Research and Clinical Endeavors // Global Journal of Pharmacy & Pharmaceutical Sciences. — 2024. — V11(3). — P.1–10. — [электронный ресурс] — Режим доступа. — URL: https://www.researchgate.net/publication/380400968_Advancements_and_Interventions_in_Down_Syndrome_A_Comprehensive_Review_of_Current_Research_and_Clinical_Endeavors (дата обращения 12.03.2025)
6. Tag Vault. Why Do People with Down Syndrome Look the Same? [Электронный ресурс]: сайт. – URL: https://tagvault.org/blog/why-do-people-with-down-syndrome-look-the-same/ (дата обращения: 12.03.2025)