ABSTRACT
Background: The assessment of skeletal maturity is important in the timing of orthodontic treatment especially in the modification of dento-facial growth. The use of cervical vertebrae as a method of assessment of skeletal maturity has rarely been used among Down Syndrome. Objective: To assess skeletal maturity among individuals with Down Syndrome using the cervical vertebrae maturation stages. Methods: The study was conducted among 21 Down Syndrome with mean ages of 11.70 ï± 1.83 years (males) and 13.64 ï± 1.75 years (female); and 21 control individuals with mean ages of 12.00 ï± 2.00 years (male), and 13.50 ï± 1.90 years (female). The independent t-test and chi-square test were used to determine significant differences among the continuous (age) and categorical variables (cervical vertebrae maturation stages) respectively when matched with gender and chronological age. Fischer exact test was used when an expected frequency presentation was <5. A p-value of < 0.05 was set as statistically significant. Results: Down Syndrome males had delayed maturation at 11 years but accelerated at 12 with early attainment of maturity at 15 years. Down Syndrome female had a delay tendency in skeletal maturation from 1115 years of age. Overall, Down Syndrome had a 1.242 probability of either having a delay or advancement in skeletal maturation which was not statistically significant. Conclusively, the skeletal maturation pattern between Down syndrome patients and normal individuals was not statistically different. Conclusion: The average timing for commencement of orthodontic treatment especially growth modification for normal individuals can be applied for individuals with Down Syndrome as this present study did not show any statistically significant difference in their overall skeletal maturation.
Subject(s)
Humans , Male , Female , Orthodontics , Age Determination by Skeleton , Cervical Vertebrae , Down SyndromeABSTRACT
BACKGROUND: In developing countries, infants with Down syndrome and cardiac defect are at increased risk of dying. Congenital heart diseases occur in 40-50% of affected infants. Endocardial cushion defect accounts for the most. Pattern of cardiac defects in Down syndrome vary with ethnicity. The current study aims to determine pattern of cardiac defects and survival of patients in our institution. METHODS: Hospital based review of cases, between April 2010 and may 2015 were made. Data were analyzed using SPSS version 20 software quantitatively with plotted Kaplan Meier survival curve done. RESULTS: Down syndrome cases, 53 male and 63 females with cardiac anomalies, were described. Patent ductus arteriosus occurs in 57(36.5%), Ventricular septal defect in 31(19.9%), Atrial septal defect in 30(19%), Atrio-ventricular septal defect in 29(18.6%),Tetralogy of Fallot in 4(2.6%) and others in 5(3.2%) cases. Cases were alive, lost to follow-up and died in 59, 35 and 22 cases, respectively. The overall death rate was 19% and two-third of them died during infancy with females dying at an earlier age than males. Pulmonary hypertension, hypothyroidism and gastrointestinal disorders were diagnosed in 46, 21 and 4 of the cases, respectively. Reasons for lost to follow-up were discussed. CONCLUSION: The pattern of cardiac anomalies in our study among Down syndrome cases is dominated by Patent ductus arteriosus while, the overall survival of cases is guarded as majority of deaths occurred during infancy
Subject(s)
Down Syndrome , EthiopiaABSTRACT
BACKGROUND: Studies have suggested that identification of aberrant palmar creases may give clues for an early and noninvasive method of diagnosis of certain disease conditions. Toward this purpose, awareness of the normal variants of palmar creases must be first recognized. Accordingly, this study aimed to investigate the patterns of palmar creases in healthy Ethiopian population among Medical and Dental Students in Addis Ababa. SUBJECTS AND METHODS: Right and left palm pictures from 318 (177 females and 141 males) participants were taken using a mobile camera, and evaluated qualitatively. Observations were analyzed by Fisher's exact test, and significance levels for comparisons were set at p<0.05. RESULTS: Aberrant creases were observed in 13.8% of the palms. Simian crease was the most common among the aberrant crease types, followed by Suwon and Sydney. Palmar creases with two and three points of origin were significantly more common, respectively, in males and the females. Minor variants as accessory to the radial longitudinal crease and middle longitudinal crease were also observed. CONCLUSION: This study suggests that aberrant crease types at the observed frequencies may not be indicative of known disease conditions as they occurred in apparently healthy Ethiopians. However, the results of this study, besides revealing the patterns of palmar creases among Ethiopians, could give a baseline for studies aimed at diagnosis of disease conditions based on palmar crease configurations. Further qualitative and quantitative studies of palmar creases in wider populations with various conditions, including ethno-geographic factors, are recommended
Subject(s)
Down Syndrome , Ethiopia , Students, Dental , Students, MedicalABSTRACT
Background: Though prenatal genetic testing has been shown to have immense benefits, reports suggest it is not routinely done and is unavailable to many pregnant women in Nigeria. Factors associated with prenatal genetic testing as well as ethical aspects of consequent options available need to be assessed if prenatal testing is to be proposed to Nigerian women. Aims: This study evaluated the knowledge of genetic diseases and prenatal genetic testing, willingness to test, attitudes towards testing, use of common tests available as well as willingness to terminate affected pregnancies among antenatal clinic attendees in selected health facilities in an urban local government area (LGA) in Lagos, southwest Nigeria. Materials and Methods: This was a descriptive cross-sectional study. The study participants were 327 pregnant women in any of the three trimesters of pregnancy interviewed with structured questionnaires in two primary and one secondary health facility in the Local Government Area. Collected data was analysed using Epi-Info 7.2 statistical software. Results: Respondents' mean age was 30 years ± 4.22. Majority of the respondents had post-secondary education, were experiencing their first pregnancy, and had no previous pregnancies or relatives with genetic diseases. More than half (69.4%) of the respondents had poor knowledge of genetic diseases. Almost all the respondents (97.6%) had poor knowledge of prenatal genetic testing. Majority of respondents (61.8%) were willing to undergo testing. Only 23.9% of the respondents had good attitude scores. Majority (26.9%) of the participants who had made use of a prenatal screening or diagnostic test had made use of ultrasound and blood test before three months of pregnancy. Only 10.1% of the population stated that they would opt to terminate affected pregnancies. Knowledge of genetic diseases significantly correlated with decision to terminate affected pregnancies. Conclusion: Education and approaches to ensure improved supportive care and treatment for children with genetic diseases should be explored in our environment
Subject(s)
Anemia, Sickle Cell , Down Syndrome , Genetic Diseases, Inborn , Lakes , Nigeria , Pregnant WomenABSTRACT
Le syndrome de Down expose à plusieurs anomalies dont des problèmes dentaires. Ces problèmes dentaires très fréquents sont très peu étudiés chez les enfants porteurs de syndrome de Down suivis au CNHU. C'est pour combler ce vide que cette étude a été initiée. Elle avait pour objectif d'étudier les anomalies dentaires chez les enfants porteurs de syndrome de Down en Pédiatrie au CNHU de Cotonou. Méthode : Il s'agissait d'une étude prospective, descriptive et analytique conduite sur des enfants reçus en consultation de génétique médicale sur la période de janvier à septembre 2017. Chaque enfant bénéficiait d'un examen clinique avec ou sans réalisation de la panoramique dentaire. Les données collectées étaient sociodémographiques, cliniques et paracliniques. Résultats : Au total, 38 enfants porteurs de syndrome de Down ont été inclus. L'hygiène buccodentaire était mauvaise chez 60,5% des enfants et était caractérisée par la présence de tartre et d'enduits sur les dents. Les enfants avaient une gencive saine dans 84,2% des cas. Une carie était observée chez 18,4% des enfants. Conclusion : Les anomalies dentaires sont fréquentes chez les enfants porteurs de syndrome de Down suivis en pédiatrie au CNHU de Cotonou. Un dépistage systématique de ces anomalies dentaires devra être mis en place pour une prise en charge globale de ces enfants
Subject(s)
Benin , Child , Dental Caries Susceptibility , Dental Fissures , Down SyndromeABSTRACT
BACKGROUND:Down syndrome (DS) is the most common chromosomal disorder in newborns. Until 20 years ago DS was considered rare in black African children in South Africa (SA). Lack of awareness of DS on the part of medical staff in SA; and difficulty in diagnosing it; appear to persist. OBJECTIVES:To establish an epidemiological profile of DS and investigate the ability of clinicians in KwaZulu-Natal Province (KZN); SA; to make accurate clinical diagnoses of DS.METHODS:Records at the South African National Blood Service cytogenetic laboratory in Pinetown; KZN; were examined for all tests for clinically suspected DS undertaken during January 2009 - December 2013 and all cytogenetically proven DS test results. Age at diagnosis; the hospital from where the test was sent and type of chromosomal pattern for each confirmed DS test result were recorded. RESULTS:Of a total of 1 578 tests requested; 875 confirmed DS; indicating that clinicians correctly clinically diagnosed DS 55.4% of the time. The average age of cytogenetic diagnosis of DS was 1 year and 20 days. The minimum population prevalence of DS was 0.8/1 000.CONCLUSIONS: The diagnosis of DS is a challenge in KZN; potentiating missed opportunities for early intervention. The relatively low population prevalence of DS may be attributable to a lack of confirmatory cytogenetic tests or missed clinical diagnoses. It may also be attributable to a high mortality rate for children with DS in the province
Subject(s)
Cytogenetic Analysis , Down Syndrome/diagnosis , Postnatal CareABSTRACT
K.M; a 1 year and 9 month old male child from Mwanza was referred from Bugando Hospital to Muhimbili National hospital for further investigations and management. He presented with gradual onset of dry recurrent cough and difficulty in breathing for 20 months and low grade recurrent fever for 9 months. His mother was 43 years and father 45 years old. On examination he was alert; febrile (38.5C); acyanotic;with up-slanting eyes; low set ears; flat nose-bridge; smallchin; short neck; pigeon chest and webbed toes. He wasmalnourished with delayed developmental milestones.A pansystolic murmur was auscultated at the lower leftsternal edge; and he had impaired speech; reduced musclebulk and muscle tone with muscle power of grade 3
Subject(s)
Case Reports , Down Syndrome , Maternal Age , PregnancyABSTRACT
K.M; a 1 year and 9 month old male child from Mwanza was referred from Bugando Hospital to Muhimbili National hospital for further investigations and management. He presented with gradual onset of dry recurrent cough and difficulty in breathing for 20 months and low grade recurrent fever for 9 months. His mother was 43 years and father 45 years old. On examination he was alert; febrile (38.5oC); acyanotic; with up-slanting eyes; low set ears; flat nose-bridge; small chin; short neck; pigeon chest and webbed toes. He was malnourished with delayed developmental milestones. A pansystolic murmur was auscultated at the lower left sternal edge; and he had impaired speech; reduced muscle bulk and muscle tone with muscle power of grade 3
Subject(s)
Down Syndrome/diagnosis , Down Syndrome/etiology , Maternal Age , Risk FactorsABSTRACT
K.M; a 1 year and 9 month old male child from Mwanza was referred from Bugando Hospital to Muhimbili National hospital for further investigations and management. He presented with gradual onset of dry recurrent cough and difficulty in breathing for 20 months and low grade recurrent fever for 9 months. His mother was 43 years and father 45 years old. On examination he was alert; febrile (38.5C); acyanotic;with up-slanting eyes; low set ears; flat nose-bridge; smallchin; short neck; pigeon chest and webbed toes. He wasmalnourished with delayed developmental milestones.A pansystolic murmur was auscultated at the lower leftsternal edge; and he had impaired speech; reduced musclebulk and muscle tone with muscle power of grade 3
Subject(s)
Case Reports , Down Syndrome , Maternal AgeABSTRACT
Down syndrome is the most common chromosomal abnormality in humans with an estimated incidence of one case in 770 live births. However; the occurrence of double aneuploidy involving autosome and or sex chromosome is a very rare phenomenon in lives born and the majority of reported cases are presented in form of spontaneous abortions. Here; we are reporting a case of a Rwandan patient with combination of trisomy 21 and triple X syndrome. The proband was 8-month-old female with typical features of Down syndrome. In additional to Down syndrome features; the child presented with minor features of triple X syndrome characterized by hypotonia and seizures
Subject(s)
Abortion , Aneuploidy , Congenital Abnormalities , Down Syndrome , InfantABSTRACT
Background : Congential heart disease (CHD) is an important cause of morbidity and mortality in patients with Down's syndrome (DS). Methods : All patients with DS seen at the Sudan Heart Centre from July 2004 to November 2007 were included in the study. All patients were examined clinically and echocardiographically; and cardiac catheterisation was carried out in selected patients. All patients were prospectively followed up. Results : In the study period; 1 566 patients were evaluated forheart disease. Of these; 80 patients with DS were identified (5). Their ages ranged from 15 days to 18 years. Cardiac abnormalities included atrioventricular septal defect (AVSD) in 38 patients (48); with the complete form in 25; a partialform in seven; AVSD with intact atrial septum in one; and complex AVSD in four patients. In one patient there was AVSD with right atrioventricular valve malformation with severe valve regurgitation and functional pulmonary atresia. The other main lesions were ventricular septal defect (VSD) in 19 patients (23) and tetralogy of Fallot (TOF) in five (6). Cardiac catheterisation was done in four patients with AVSD to measure pulmonary pressures and resistance; and in one patient with patent ductus arteriosus for device closure. Ten percent of the patients had Eisenmenger's syndrome at the time of presentation. Only 15of patients who were in need of surgery were operated on ; all had an uneventful postoperative course and a good outcome at a mean follow-up period of one year. Conclusion : The pattern of CHD in Sudanese patients with DS was comparable with that in the literature; including the rare occurrence of AVSD with intact atrial septum. In addition; we described an unreported association with right atrioventricular valve malformation. Although there was a significant delay in diagnosis and surgery; surgical results and short-term follow up were good
Subject(s)
Cardiovascular Abnormalities , Down Syndrome , PatientsABSTRACT
In a period of over 21 years; from January 1972 - April 1993; fifty (50) cases of Down's Syndrome patients with congenital heart diseases were registered in the paediatric cardiac clinic at the Department of Child Health; Korle-Bu Teaching Hospital (KBTH); Accra; Ghana. There were in all 1317 patients; registered with congenital heart diseases (CHD). The frequency ratio of Down's Syndrome patients with CHD against phenotypical normal patients with CHD is 1:26.3. Their ages at registration ranged from new-born to 8 years. Twenty-nine (58 per cent) were males and females were 21 (42 per cent). Eighty-two per cent (82 per cent) presented in early infancy. Three cases (6 per cent) in this group died. The two commonest lesions diagnosed in them were atrioventricular septal defect (AVSD) and ventricular septal defect (VSD). Sixty per cent (60 per cent) were in congestive heart failure (CHF) and 76 per cent reported because of cyanosis. These findings are in consonance with world-wide literature reports
Subject(s)
Down Syndrome , Heart FailureABSTRACT
A 3-year old girl with clinical features of Down's syndrome presented with persistent vomiting of undigested food and recurrent cough. Although her karyotype was not carried out; radiographs of the pelvis and hands revealed characteristic features of Down's syndrome. An investigative barium swallow to diagnose the cause of the vomiting showed achalasia which is a rare association with Down's syndrome