12 results on '"Sokunbi, OJ"'
Search Results
2. 22q11.2 Deletion Syndrome in Diverse Populations
- Author
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Muthukumarasamy, P, Muenke, M, Linguraru, MG, Kruszka, P, Addissie, YA, McGinn, DE, Porras, AR, Biggs, E, Share, M, Crowley, TB, Kaplan, JD, Chung, BHY, Abdul-Rahman, OA, Uwineza, A, Mok, TKG, MAK, CCY, Mutesa, L, Moresco, A, Obregon, MG, Richieri-Costa, A, Zackai, EH, Summar, M, McDonald-McGinn, DM, Adeyemo, AA, Gil-da-Silva-Lopes, VL, Thong, MK, Siriseria, ND, Dissanayake, VHW, Paththinige, CS, Prabodha, LBL, Mishra, R, Shotelersuk, V, Ekure, EN, Sokunbi, OJ, Kalu, N, Ferreira, CR, Duncan, JM, Patil, SJ, and Jones, KL
- Subjects
Adult ,Heart Defects, Congenital ,Male ,Adolescent ,Learning Disabilities ,Chromosomes, Human, Pair 22 ,Infant, Newborn ,Black People ,Facies ,Infant ,Hispanic or Latino ,Article ,White People ,Phenotype ,Asian People ,Biometric Identification ,Child, Preschool ,Image Interpretation, Computer-Assisted ,DiGeorge Syndrome ,Humans ,Female ,Child ,human activities ,In Situ Hybridization, Fluorescence - Abstract
22q11.2 deletion syndrome (22q11.2 DS) is the most common microdeletion syndrome and is underdiagnosed in diverse populations. This syndrome has a variable phenotype and affects multiple systems, making early recognition imperative. In this study, individuals from diverse populations with 22q11.2 DS were evaluated clinically and by facial analysis technology. Clinical information from 106 individuals and images from 101 were collected from individuals with 22q11.2 DS from 11 countries; average age was 11.7 and 47% were male. Individuals were grouped into categories of African descent (African), Asian, and Latin American. We found that the phenotype of 22q11.2 DS varied across population groups. Only two findings, congenital heart disease and learning problems, were found in greater than 50% of participants. When comparing the clinical features of 22q11.2 DS in each population, the proportion of individuals within each clinical category was statistically different except for learning problems and ear anomalies (P 0.05). However, when Africans were removed from analysis, six additional clinical features were found to be independent of ethnicity (P ≥ 0.05). Using facial analysis technology, we compared 156 Caucasians, Africans, Asians, and Latin American individuals with 22q11.2 DS with 156 age and gender matched controls and found that sensitivity and specificity were greater than 96% for all populations. In summary, we present the varied findings from global populations with 22q11.2 DS and demonstrate how facial analysis technology can assist clinicians in making accurate 22q11.2 DS diagnoses. This work will assist in earlier detection and in increasing recognition of 22q11.2 DS throughout the world.
- Published
- 2017
3. The first case of transcatheter device closure of perimembranous ventricular septal defect in Nigeria: a case report.
- Author
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Sokunbi OJ, Udom BO, Sreedhar NK, Sanusi MO, and Premsekar R
- Subjects
- Humans, Female, Infant, Child, Preschool, Nigeria, Hospitalization, Treatment Outcome, Weight Gain, Cardiac Catheterization methods, Heart Septal Defects, Ventricular surgery
- Abstract
Ventricular septal defect (VSD) is the most common congenital cardiac anomaly with a prevalence of 1.17 per 1000 live births. Haemodynamically significant VSDs require closure either surgical or transcatheter. We report a case of transcatheter device closure of a moderate-sized perimembranous ventricular septal defect (PmVSD), the first of its kind in Nigeria. The procedure was performed on a 23-month-old female weighing 10 kg who had presented with a history of frequent pneumonia and poor weight gain and signs of heart failure. The procedure was uncomplicated, and she was discharged 24 hours after the intervention. She had been followed-up two years post-procedure without complications and she had achieved appreciable weight gain. This non-surgical option was effective in this patient and provided the advantage of limited hospitalization, accelerated recovery, and intervention without the need for blood products. Such interventions should be scaled up in Nigeria and other sub-Saharan African countries., Competing Interests: The authors declare no competing interests., (Copyright: Ogochukwu Jidechukwu Sokunbi et al.)
- Published
- 2023
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4. Congenital heart defects in orofacial cleft: A prospective cohort study.
- Author
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Erinoso OA, James O, Sokunbi OJ, Adamson OO, Adekunle AA, Agbogidi OF, Ogunlewe AO, Ekure EN, Adeyemo WL, Ladeinde AL, and Ogunlewe OM
- Subjects
- Child, Female, Humans, Infant, Prospective Studies, Abnormalities, Multiple, Cleft Lip epidemiology, Cleft Palate epidemiology, Heart Defects, Congenital epidemiology
- Abstract
Background: Congenital heart defects (CHDs) are one of the most common associated anomalies in patients with an orofacial cleft (OFC). However, few studies have shown the association between cleft type and CHDs in our population. This study aimed to assess the prevalence of CHDs in a cohort of OFC patients at a tertiary health facility in Nigeria, as well as assess the risk of CHD by OFC type., Materials and Methods: This was a prospective study design. Patients with an OFC were consecutively enrolled at a single OFC treatment facility. All subjects were assessed by a paediatric cardiologist and had echocardiography done. They were categorised based on the presence of CHDs, as well as the OFC phenotypic type (cleft lip and/or alveolus, cleft lip and palate and cleft palate only). Statistical analysis was done using STATA version 14 (College Station, Texas), and significance was set at P < 0.05., Results: A total of 150 subjects enrolled in the study over a period of 2 years (2018-2020). The median age of subjects was 6 months (interquartile range: 2-24), and 54.7% were female. The prevalence of CHDs in the subjects reviewed was 30.7%. Based on the severity of CHDs, the majority presented with simple defects (95.6%). Overall, the most common presentation was patent foramen ovale (12.7%), followed by septal defects (8.0%). There was no significant association between cleft type and the odds of a CHD., Conclusion: The study reports a relatively high prevalence of CHDs in patients with OFC; however, there was no association between the risk of CHD by cleft type. Although a majority of CHDs may pose a low operative risk, cardiac evaluation is recommended for all cases of OFC to aid the identification of potentially high-risk cases., Competing Interests: None
- Published
- 2021
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5. Electrocardiographic pattern of apparently healthy African adolescent athletes in Nigeria.
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Sokunbi OJ, Okoromah CAN, Ekure EN, Olawale OA, and Eke WS
- Subjects
- Adolescent, Child, Cross-Sectional Studies, Death, Sudden, Cardiac epidemiology, Death, Sudden, Cardiac etiology, Female, Humans, Male, Nigeria epidemiology, Athletes, Electrocardiography
- Abstract
Background: Strategies to prevent sudden cardiac death (SCD) among young athletes have become topical worldwide and unrecognized cardiac pathology has been identified as a leading cause. Black ethnicity has been reported as an independent predictor of abnormal electrocardiography (ECG) findings among athletes and the frequency and significance of training-related ECG findings versus findings suggestive of an underlying pathology in the young African athletes is crucial., Methods: This cross sectional study aimed to determine the prevalence and distribution of ECG patterns in young athletes and controls. A total of 360 participants (180 athletes and 180 controls) were recruited from six secondary schools in Lagos, Nigeria between November 2014 and July 2015. Evaluation included interviewer-administered questionnaires for relevant history, physical examination and resting 12 - lead ECG for each participant., Results: Abnormal ECG patterns were found in 48.3% of athletes and 35.6% of controls. Training-related ECG findings occurred in 33.3% of athletes and 18.3% of controls. Athletes and controls had 7.7% prevalence of training un-related ECG patterns respectively. Left ventricular hypertrophy was the most common ECG finding among the athletes and male athletes had a higher prevalence of ECG abnormalities compared to females., Conclusion: Adolescent athletes in Nigeria have a high prevalence of training-related ECG patterns and athletes and non-athletes alike have similar proportions of ECG findings suggestive of underlying structural heart disease. Cardiovascular evaluation including ECG should be performed for young athletes prior to competition at any level and should also be considered as part of pre-school entry assessment for all children.
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- 2021
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6. Maintaining paediatric cardiac services during the COVID-19 pandemic in a developing country in sub-Saharan Africa: guidelines for a "scale up" in the face of a global "scale down".
- Author
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Sokunbi OJ, Mgbajah O, Olugbemi A, Udom BO, Idowu A, and Sanusi MO
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- Ambulatory Care methods, COVID-19 diagnosis, COVID-19 epidemiology, Cardiac Catheterization methods, Cardiac Surgical Procedures methods, Developing Countries, Echocardiography methods, Echocardiography, Transesophageal methods, Emergency Service, Hospital, Heart Defects, Congenital diagnosis, Humans, Infection Control methods, Mass Screening, Nigeria, Personal Protective Equipment, Point-of-Care Systems, Practice Guidelines as Topic, Telemedicine methods, Triage methods, COVID-19 prevention & control, Cardiology, Delivery of Health Care, Heart Defects, Congenital therapy, Pediatrics, Thoracic Surgery
- Abstract
The COVID-19 pandemic is currently ravaging the globe and the African continent is not left out. While the direct effects of the pandemic in regard to morbidity and mortality appear to be more significant in the developed world, the indirect harmful effects on already insufficient healthcare infrastructure on the African continent would in the long term be more detrimental to the populace. Women and children form a significant vulnerable population in underserved areas such as the sub-Saharan region, and expectedly will experience the disadvantages of limited healthcare coverage which is a major fall out of the pandemic. Paediatric cardiac services that are already sparse in various sub-Saharan countries are not left out of this downsizing. Restrictions on international travel for patients out of the continent to seek medical care and for international experts into the continent for regular mission programmes leave few options for children with cardiac defects to get the much-needed care.There is a need for a region-adapted guideline to scale-up services to cater for more children with congenital heart disease (CHD) while providing a safe environment for healthcare workers, patients, and their caregivers. This article outlines measures adapted to maintain paediatric cardiac care in a sub-Saharan tertiary centre in Nigeria during the COVID-19 pandemic and will serve as a guide for other institutions in the region who will inadvertently need to provide these services as the demand increases.
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- 2020
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7. Tuberous sclerosis in a patient from Nigeria.
- Author
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Ekure EN, Addissie YA, Sokunbi OJ, Kruszka P, Muenke M, and Adeyemo AA
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- Angiofibroma diagnosis, Angiofibroma pathology, Child, Preschool, Gene Expression, Humans, Male, Myocardium metabolism, Myocardium pathology, Nigeria, Rhabdomyoma diagnosis, Rhabdomyoma pathology, Skin metabolism, Skin pathology, Tuberous Sclerosis diagnosis, Tuberous Sclerosis pathology, Exome Sequencing, Angiofibroma genetics, Mutation, Rhabdomyoma genetics, Tuberous Sclerosis genetics, Tuberous Sclerosis Complex 1 Protein genetics, Tuberous Sclerosis Complex 2 Protein genetics
- Abstract
Tuberous sclerosis complex (TSC) is an autosomal dominant syndrome characterized by mostly benign tumors of the brain, skin, heart, kidney, and eye. Aberrations in the genes TSC1 and TSC2 which encode hamartin and tuberin, respectively, cause TSC. Because disease manifestations develop over time, early diagnosis and intervention are imperative for patients. TSC is not well described in patients from sub-Saharan Africa or of black African ancestry. Here, we report on a 4-year-old Nigerian boy with skin lesions and cardiac anomalies associated with TSC. Furthermore, we note that in areas with limited resources for genetic diagnoses, the common skin manifestations found in TSC may be especially useful clinical markers., (© 2019 Wiley Periodicals, Inc.)
- Published
- 2019
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8. Clinical epidemiology of congenital heart disease in Nigerian children, 2012-2017.
- Author
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Ekure EN, Kalu N, Sokunbi OJ, Kruszka P, Olusegun-Joseph AD, Ikebudu D, Bala D, Muenke M, and Adeyemo A
- Subjects
- Adolescent, Child, Child, Preschool, Echocardiography, Female, Humans, Infant, Infant, Newborn, Male, Nigeria epidemiology, Heart Defects, Congenital epidemiology, Heart Defects, Congenital physiopathology
- Abstract
Background: Congenital heart diseases (CHDs) affect ~1% of newborns and are a significant cause of morbidity and mortality in children. We present the clinical epidemiology of CHD as seen in a large university medical center in Nigeria., Methods: Participants were 767 children with echocardiographically confirmed CHD seen over a 5-year period at the Lagos University Teaching Hospital, Nigeria., Results: Clinical presentation was often late with just over half (58.1%) presenting in infancy. The male:female distribution was 1:1. The predominant types of cardiac lesion seen were septal defects (43%), conotruncal defects (23.7%), atrioventricular septal defects (9.8%), and right ventricular outflow tract obstruction (7.3%). Cyanotic CHD was seen in 28.4% of cases and the single most common cyanotic CHD was Tetralogy of Fallot (13.4%). Children with cyanotic CHD were older (p = .002), had more severe lesions (p < .0001) and were more likely to have cardiac intervention (p < .0001). Extracardiac malformations were present in nearly one-third of the children. Syndromes associated with CHD were identified in 15.5% of the children and included Down syndrome (11.9%), congenital rubella syndrome (1.0%), and Marfan syndrome (0.7%)., Conclusions: This study is a large case series of CHD from a single site in sub-Saharan Africa utilizing clinical, epidemiological, and developmental considerations. It provides a rich and up-to-date description of the clinical epidemiology of CHD in Nigerian children while yielding data that could be useful for designing genetic, molecular, and biomarker studies., (© 2018 Wiley Periodicals, Inc.)
- Published
- 2018
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9. Pulmonary hypertension among 5 to 18 year old children with sickle cell anaemia in Nigeria.
- Author
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Sokunbi OJ, Ekure EN, Temiye EO, Anyanwu R, and Okoromah CAN
- Subjects
- Adolescent, Biomarkers blood, Blood Cell Count, Child, Child, Preschool, Electrocardiography, Female, Humans, Male, Nigeria, Prevalence, Anemia, Sickle Cell blood, Anemia, Sickle Cell complications, Anemia, Sickle Cell epidemiology, Anemia, Sickle Cell physiopathology, Hypertension, Pulmonary blood, Hypertension, Pulmonary epidemiology, Hypertension, Pulmonary etiology, Hypertension, Pulmonary physiopathology
- Abstract
Background: Pulmonary hypertension (PHT) is a significant cause of mortality in patients with sickle cell disease (SCD). Few studies on PHT in SCD have been carried out in children. This study aimed to estimate the prevalence of PHT in children with sickle cell anaemia (SCA) and determine its clinical and laboratory correlates., Methods: In this cross sectional study, evaluation involved obtaining bio-data, history and physical examination findings in 175 SCA subjects with haemoglobin genotype SS aged 5 to 18 years and 175 age and sex matched controls with haemoglobin genotype AA. PHT was determined using peak Tricuspid Regurgitant Velocity (TRV) obtained from echocardiography as a marker. Complete blood count (CBC), lactate dehydrogenase (LDH) assay, reticulocyte count, foetal haemoglobin (HbF) estimation as well as Human Immunodeficiency Virus (HIV) I and II, Hepatitis B Virus (HBV) and Hepatitis C Virus (HCV) screening were done for patients with SCA., Results: The mean peak TRV of subjects with SCA and controls was 2.2 ± 0.4 m/s and 1.9 ± 0.3 m/s respectively and prevalence of PHT among children with SCA and controls was 22.9% and 2.3% respectively. PHT in SCA correlated negatively with body mass index, haematocrit and haemoglobin., Conclusion: This study affirms that PHT prevalence is high in children with SCA in Nigeria. Cardiovascular examination for signs of PHT is recommended for children with SCA and if required, further echocardiographic assessment from as early as five years.
- Published
- 2017
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10. Noonan syndrome in diverse populations.
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Kruszka P, Porras AR, Addissie YA, Moresco A, Medrano S, Mok GTK, Leung GKC, Tekendo-Ngongang C, Uwineza A, Thong MK, Muthukumarasamy P, Honey E, Ekure EN, Sokunbi OJ, Kalu N, Jones KL, Kaplan JD, Abdul-Rahman OA, Vincent LM, Love A, Belhassan K, Ouldim K, El Bouchikhi I, Shukla A, Girisha KM, Patil SJ, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Klein-Zighelboim E, Gallardo Jugo BE, Chávez Pastor M, Abarca-Barriga HH, Skinner SA, Prijoles EJ, Badoe E, Gill AD, Shotelersuk V, Smpokou P, Kisling MS, Ferreira CR, Mutesa L, Megarbane A, Kline AD, Kimball A, Okello E, Lwabi P, Aliku T, Tenywa E, Boonchooduang N, Tanpaiboon P, Richieri-Costa A, Wonkam A, Chung BHY, Stevenson RE, Summar M, Mandal K, Phadke SR, Obregon MG, Linguraru MG, and Muenke M
- Subjects
- Asian People, Black People genetics, Child, Female, Humans, Male, Mitogen-Activated Protein Kinase Kinases genetics, Noonan Syndrome physiopathology, Signal Transduction, White People genetics, ras Proteins genetics, Face physiopathology, Genetics, Population, Noonan Syndrome genetics
- Abstract
Noonan syndrome (NS) is a common genetic syndrome associated with gain of function variants in genes in the Ras/MAPK pathway. The phenotype of NS has been well characterized in populations of European descent with less attention given to other groups. In this study, individuals from diverse populations with NS were evaluated clinically and by facial analysis technology. Clinical data and images from 125 individuals with NS were obtained from 20 countries with an average age of 8 years and female composition of 46%. Individuals were grouped into categories of African descent (African), Asian, Latin American, and additional/other. Across these different population groups, NS was phenotypically similar with only 2 of 21 clinical elements showing a statistically significant difference. The most common clinical characteristics found in all population groups included widely spaced eyes and low-set ears in 80% or greater of participants, short stature in more than 70%, and pulmonary stenosis in roughly half of study individuals. Using facial analysis technology, we compared 161 Caucasian, African, Asian, and Latin American individuals with NS with 161 gender and age matched controls and found that sensitivity was equal to or greater than 94% for all groups, and specificity was equal to or greater than 90%. In summary, we present consistent clinical findings from global populations with NS and additionally demonstrate how facial analysis technology can support clinicians in making accurate NS diagnoses. This work will assist in earlier detection and in increasing recognition of NS throughout the world., (© 2017 Wiley Periodicals, Inc.)
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- 2017
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11. 22q11.2 deletion syndrome in diverse populations.
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Kruszka P, Addissie YA, McGinn DE, Porras AR, Biggs E, Share M, Crowley TB, Chung BH, Mok GT, Mak CC, Muthukumarasamy P, Thong MK, Sirisena ND, Dissanayake VH, Paththinige CS, Prabodha LB, Mishra R, Shotelersuk V, Ekure EN, Sokunbi OJ, Kalu N, Ferreira CR, Duncan JM, Patil SJ, Jones KL, Kaplan JD, Abdul-Rahman OA, Uwineza A, Mutesa L, Moresco A, Obregon MG, Richieri-Costa A, Gil-da-Silva-Lopes VL, Adeyemo AA, Summar M, Zackai EH, McDonald-McGinn DM, Linguraru MG, and Muenke M
- Subjects
- Adolescent, Adult, Asian People, Black People, Child, Child, Preschool, Chromosomes, Human, Pair 22 chemistry, DiGeorge Syndrome ethnology, DiGeorge Syndrome genetics, DiGeorge Syndrome pathology, Facies, Female, Heart Defects, Congenital ethnology, Heart Defects, Congenital genetics, Heart Defects, Congenital pathology, Hispanic or Latino, Humans, In Situ Hybridization, Fluorescence, Infant, Infant, Newborn, Learning Disabilities ethnology, Learning Disabilities genetics, Learning Disabilities physiopathology, Male, Phenotype, White People, Biometric Identification methods, DiGeorge Syndrome diagnosis, Heart Defects, Congenital diagnosis, Image Interpretation, Computer-Assisted methods, Learning Disabilities diagnosis
- Abstract
22q11.2 deletion syndrome (22q11.2 DS) is the most common microdeletion syndrome and is underdiagnosed in diverse populations. This syndrome has a variable phenotype and affects multiple systems, making early recognition imperative. In this study, individuals from diverse populations with 22q11.2 DS were evaluated clinically and by facial analysis technology. Clinical information from 106 individuals and images from 101 were collected from individuals with 22q11.2 DS from 11 countries; average age was 11.7 and 47% were male. Individuals were grouped into categories of African descent (African), Asian, and Latin American. We found that the phenotype of 22q11.2 DS varied across population groups. Only two findings, congenital heart disease and learning problems, were found in greater than 50% of participants. When comparing the clinical features of 22q11.2 DS in each population, the proportion of individuals within each clinical category was statistically different except for learning problems and ear anomalies (P < 0.05). However, when Africans were removed from analysis, six additional clinical features were found to be independent of ethnicity (P ≥ 0.05). Using facial analysis technology, we compared 156 Caucasians, Africans, Asians, and Latin American individuals with 22q11.2 DS with 156 age and gender matched controls and found that sensitivity and specificity were greater than 96% for all populations. In summary, we present the varied findings from global populations with 22q11.2 DS and demonstrate how facial analysis technology can assist clinicians in making accurate 22q11.2 DS diagnoses. This work will assist in earlier detection and in increasing recognition of 22q11.2 DS throughout the world., (© 2017 Wiley Periodicals, Inc.)
- Published
- 2017
- Full Text
- View/download PDF
12. Down syndrome in diverse populations.
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Kruszka P, Porras AR, Sobering AK, Ikolo FA, La Qua S, Shotelersuk V, Chung BH, Mok GT, Uwineza A, Mutesa L, Moresco A, Obregon MG, Sokunbi OJ, Kalu N, Joseph DA, Ikebudu D, Ugwu CE, Okoromah CA, Addissie YA, Pardo KL, Brough JJ, Lee NC, Girisha KM, Patil SJ, Ng IS, Min BC, Jamuar SS, Tibrewal S, Wallang B, Ganesh S, Sirisena ND, Dissanayake VH, Paththinige CS, Prabodha LB, Richieri-Costa A, Muthukumarasamy P, Thong MK, Jones KL, Abdul-Rahman OA, Ekure EN, Adeyemo AA, Summar M, Linguraru MG, and Muenke M
- Subjects
- Adolescent, Adult, Biomarkers, Case-Control Studies, Child, Child, Preschool, Down Syndrome genetics, Female, Humans, Infant, Infant, Newborn, Male, Population Groups genetics, Sensitivity and Specificity, Young Adult, Down Syndrome diagnosis, Down Syndrome epidemiology, Facies, Genetic Association Studies, Phenotype, Population Groups statistics & numerical data, Population Surveillance
- Abstract
Down syndrome is the most common cause of cognitive impairment and presents clinically with universally recognizable signs and symptoms. In this study, we focus on exam findings and digital facial analysis technology in individuals with Down syndrome in diverse populations. Photos and clinical information were collected on 65 individuals from 13 countries, 56.9% were male and the average age was 6.6 years (range 1 month to 26 years; SD = 6.6 years). Subjective findings showed that clinical features were different across ethnicities (Africans, Asians, and Latin Americans), including brachycephaly, ear anomalies, clinodactyly, sandal gap, and abundant neck skin, which were all significantly less frequent in Africans (P < 0.001, P < 0.001, P < 0.001, P < 0.05, and P < 0.05, respectively). Evaluation using a digital facial analysis technology of a larger diverse cohort of newborns to adults (n = 129 cases; n = 132 controls) was able to diagnose Down syndrome with a sensitivity of 0.961, specificity of 0.924, and accuracy of 0.943. Only the angles at medial canthus and ala of the nose were common significant findings amongst different ethnicities (Caucasians, Africans, and Asians) when compared to ethnically matched controls. The Asian group had the least number of significant digital facial biometrics at 4, compared to Caucasians at 8 and Africans at 7. In conclusion, this study displays the wide variety of findings across different geographic populations in Down syndrome and demonstrates the accuracy and promise of digital facial analysis technology in the diagnosis of Down syndrome internationally. © 2016 Wiley Periodicals, Inc., (© 2016 Wiley Periodicals, Inc.)
- Published
- 2017
- Full Text
- View/download PDF
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