&lt;p&gt;The Population Prevalence, Associations of Congenital Heart Defect and Mortality Risk for Down’s Syndrome in South Korea Based on National Health Insurance Service (NHIS) Data&lt;/p&gt;

Cho, Won Kyung; Lee, Na Young; Suh, Byung‐Kyu; Park, Yong Gyu

doi:10.2147/clep.s251637

Cited by 5 publications

(11 citation statements)

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“…The disease pattern in the whole ID population was similarly in people with DS ( Fig 4 ). Obesity/overweight (25.5%-59.5%) [ 71 , 93 , 94 ], visual impairment including blindness (0.8%-34.9%) [ 94 – 96 ], hearing loss (0.9%-57.4%) [ 88 , 97 – 103 ], middle ear infection (30.0%-93.0%) [ 97 , 99 , 102 , 104 , 105 ], congenital heart defects (unspecified) (14.1%-79.2%) [ 40 , 43 , 47 , 57 , 59 , 76 , 78 , 96 , 97 , 101 , 105 – 112 ], cold or influenza (78.7%) [ 99 ], thyroid disorders (1.0%-39.0%) [ 95 , 97 , 96 , 99 , 105 , 107 , 112 , 113 ], common skin diseases (13.0%-23.4%) [ 96 , 113 ], refractive error (14.4%-29.7%) [ 99 ], and lower respiratory tract infection (11.4%-27.0%)[ 97 , 99 ] were common in people with DS ( Fig 4 ). For hearing and visual impairments, the lower prevalence estimates were found for specific hearing [ 98 , 100 , 102 , 104 ] or visual impairments [ 94 , 96 ], ...…”

Section: Resultsmentioning

confidence: 99%

“…The well-established link between DS and congenital malformations was confirmed, especially for congenital heart defects (unspecified) (PR = 47, 95% CI = 44, 49; PR = 108, P<10 -6 ) [ 43 , 78 ]. For specific heart defects, the risk ratios were very high, for example: 1009 (P<10 -6 ) for atrioventricular septal defect in a US infant population [ 78 ]; 850 (95% CI = 171, 1008) in a Norwegian population adjusted for maternal age and birth year [ 43 ]; and 510 (95% CI = 126.7, 999) in a South Korean population adjusted for age and sex [ 59 ]. There was also a significant increased risk of other malformations, such as gastrointestinal defects and congenital cataracts [ 78 ].…”

Section: Resultsmentioning

confidence: 99%

Section: Plos Onementioning

confidence: 99%

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Prevalence and incidence of physical health conditions in people with intellectual disability – a systematic review

et al. 2021

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Objective To synthesize evidence on the prevalence and incidence of physical health conditions in people with intellectual disability (ID). Methods We searched Medline, PsycInfo, and Embase for eligible studies and extracted the prevalence, incidence, and risk of physical health conditions in people with ID. Results Of 131 eligible studies, we synthesized results from 77 moderate- to high-quality studies, which was mainly limited to high-income countries. The highest prevalence estimates were observed for epilepsy, ear and eye disorders, cerebral palsy, obesity, osteoporosis, congenital heart defects, and thyroid disorders. Some conditions were more common in people with a genetic syndrome. Compared with the general population, many health conditions occur more frequently among people with ID, including asthma and diabetes, while some conditions such as non-congenital circulatory diseases and solid cancers occur at the same or lower rate. The latter associations may reflect under-detection. Conclusions People with ID have a health profile more complex than previously known. There is a pressing need for targeted, evidence-informed population health initiatives including preventative programs for this population.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Plos Onementioning

confidence: 99%

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Prevalence and incidence of physical health conditions in people with intellectual disability – a systematic review

et al. 2021

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“…1,4, 18 Meanwhile, in South Korea, the frequencies of ASD were far the most common (28%). 7 Children with severe CHD showed growth retardation during the first year of life. 21 CHD such as atrioventricular septal defect (AVSD) is 1,000-fold higher in DS, leading to high infant mortality in DS patients.…”

Section: Discussionmentioning

confidence: 99%

“…4 CHD mostly presented with septal defects, such as Atrial Septal Defects (ASD) and Ventricular Septal Defects (VSD), followed by PDA. 7 Pulmonary Hypertension, Recurrent upper airway infection, endocrinology alterations, hearing problems, neurological abnormalities such as the early manifestation of Alzheimer's disease, immunological deficiency, and elevated risk of leukemia can also be present in DS children. 8,9 It is also documented that patients with DS are at risk of thyroid hormone abnormalities, with 24%.…”

Section: Introductionmentioning

confidence: 99%

Cytogenetic and clinical features of down syndrome in malang, east java, indonesia

Ariani

2022

PEDSCIJ

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Introduction: Down syndrome (DS) is the most common chromosomal disorder. DS characterized by multiple congenital anomaly caused by trisomy 21This study was designed to evaluate the karyotype pattern, clinical features and risk factors of patients with Down syndrome. Method: Data were obtained from a retrospective analysis of a questionnaire from Down syndrome patients. Result: A total of 34 patients were studied, with 67,6% of males. Out of 34 patients, there were 25 children (73,5%) with no cytogenetic test, 4 children (11,7%) with lost cytogenetic test, 3 children (8,82%) with free trisomy (non-disjunction), 1 (2,9%) with translocation, and 1 (2,9%) with mosaics. Maternal age categories showed one mother less than 20 years, two mothers between 21-25 years, four mothers were between 25 and 30 years, 12 mothers were between 31 and 35 years, ten mothers were between 31 and 40 years, and five mothers were over 41 years of age. The most common clinical features in this study are Congenital Heart Disease (CHD), which was recognized in 9 (26,4%) patients with five patients had Atrial Septal Defect (ASD), two patients had ASD and Ventricular Septal Defect (VSD), two patients had Patent Ductus Arteriosus (PDA). All of them followed by dental problems in 8 (23,5%) patients, ophthalmology problems in 6 (17,6%) patients, digestive problems in 4 (11,7%) patients, seizure in 1 (2,9%) patient, hormonal problems in 1 (2,9%) patient, and hearing problem in 1 (2,9%) patient. There is no significant difference in CHD prevalence between each maternal age group (p = 0776, p>0.05). Conclusion: Down syndrome has a higher prevalence in males and is frequently seen among mothers between 31 -35 years of age, yet maternal age did not seem to influence CHD prevalence significantly. Early diagnosis and proper screening should be undertaken among these patients.

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Population Prevalence, Cancer Risk, and Mortality Risk of Turner Syndrome in South Korean Women Based on National Health Insurance Service Data

et al. 2022

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Purpose In South Korea, investigations into Turner syndrome (TS) prevalence and TS-associated cancer and mortality are lacking. Accurate data were estimated from the National Health Insurance Service (NHIS) and the Rare Diseases Registry (RDR) records. Materials and Methods Data on patients with TS who were registered in the RDR between 2007 and 2017 were collected. To estimate TS-associated cancer and mortality risk, the data were compared with data of 1:3 age-matched controls. Results In 2017, 2054 patients with TS were identified from a total population of 26186952 South Korean women; therefore, the prevalence was 7.84 per 100000 persons. TS prevalence across 10-year interval age groups were 11.82, 23.17, 18.37, 10.49, 4.09, and 0.38 for age under 10 years, teenagers, 20s, 30s, 40s, and older than 50, respectively (per 100000 persons). The cancer risk in patients with TS was higher than that of age-matched controls over 5.3 person-years [hazard ratio (HR)=1.82, 95% confidence interval (CI) 1.01–3.27, p =0.045]. Among different types of cancer, thyroid cancer risk in patients with TS was significantly higher than that of age-matched controls (HR=2.78, 95% CI 1.06–7.26, p =0.037). We also observed that TS-associated all-cause mortality risk was higher than that of age-matched controls (HR=3.36, 95% CI 1.59–7.10, p =0.002). Conclusion National prevalence of TS was suggested, and an increased risk of TS-associated thyroid cancer and mortality were observed in this study.

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<p>The Population Prevalence, Associations of Congenital Heart Defect and Mortality Risk for Down’s Syndrome in South Korea Based on National Health Insurance Service (NHIS) Data</p>

Cited by 5 publications

References 28 publications

Prevalence and incidence of physical health conditions in people with intellectual disability – a systematic review

Prevalence and incidence of physical health conditions in people with intellectual disability – a systematic review

Cytogenetic and clinical features of down syndrome in malang, east java, indonesia

Population Prevalence, Cancer Risk, and Mortality Risk of Turner Syndrome in South Korean Women Based on National Health Insurance Service Data

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