MyMedR

Displaying all 11 publications

Abstract:

Sort:

Maternal age-specific incidence of Down's syndrome in Malaysian neonates

Boo NY, Hoe TS, Lye MS, Poon PK, Mahani MC

J Singapore Paediatr Soc, 1989;31(3-4):138-42.
PMID: 2534718

Over an 18 month period, 34,495 livebirths were delivered in the Kuala Lumpur Maternity Hospital. 36 neonates (1.044 per 1000 livebirths) had Down's syndrome. The observed rates of Down's syndrome per 1000 livebirths by single year intervals of maternal age were calculated. By using the discontinuous slope model, our study showed that the incidence of Down's syndrome among the Malaysian liveborns increased markedly when the maternal age exceeded 35 years. This study also suggested that the Malay mothers had increased risk of producing babies with Down's syndrome at a later age than the Chinese and the Indians. However, a larger number of babies in each racial group needs to be studied to confirm this.

Matched MeSH terms: Down Syndrome/epidemiology*
Fulltext Incidence of Down's syndrome in a large Malaysian maternity hospital over an 18 month period

Hoe TS, Boo NY, Clyde MM

Singapore Med J, 1989 Jun;30(3):246-8.
PMID: 2531468

Over an 18 month period, 34,522 livebirths were delivered in the Maternity Hospital, Kuala Lumpur. 36 of them had Down's Syndrome. Based on our findings, the incidence of Down's syndrome among the Malaysian babies born in this hospital was 1:959 livebirths. According to racial distributions, the incidence among Malay was 1:981 livebirths, Chinese 1:940 livebirths, and Indian 1:860 livebirths. Our incidence was lower than those from the Western populations. Unlike others' studies, there was also a female preponderance of Down's syndrome among the Malaysian babies.

Matched MeSH terms: Down Syndrome/epidemiology*
Fulltext Otological disorders in Down's Syndrome

Satwant S, Subramaniam KN, Prepageran N, Raman R, Jalaludin MA

Med J Malaysia, 2002 Sep;57(3):278-82.
PMID: 12440266

Objective: To assess if children with Down's Syndrome have a higher prevalence of otological abnormality compared to their normal counterparts in Malaysia.
Methodology: Thirty children with Down’s Syndrome and normal children underwent otoscope ear examination and impedance test in the ENT outpatients clinic in University Hospital Kuala Lumpur, Malaysia.
Results: The study showed that children with Down’s Syndrome had higher ontological disorders. Forty four percent had impacted wax compared to 14.4% in normal children. Twenty one percent of ears in the study group had refracted drums compared to 6.6% of control. Fifteen percent of ears in the study group had middle ear effusion compared to 3.4% in controls, 55% had a type B tympanogram compared to 8.3% in controls and 73.4% had auditory canal stenosis compared to 14.4% in controls.
Conclusion: Children with Down’s Syndrome thus have a higher incidence of ontological disorders.

Study site: ENT outpatient clincs, University Malaya Medical Centre (UMMC)

Matched MeSH terms: Down Syndrome/epidemiology*
Fulltext Prevalence of chromosomal anomalies of the mentally retarded--report of a study of 124 institutionalised children in Kuala Lumpur

Noor PJ, Chin YM, Ten SK, Hassan K

Singapore Med J, 1987 Jun;28(3):235-40.
PMID: 2958941

A cytogenetic survey 01 124 children in lour special schools for the mentally handicapped was carried out to determine the contribution of chromosomal abnormalities to the aetiology of mental retardation in these children. All the children were karyotyped employing the G·banding technique 01 43 (34.7%) with an abnormal chromosome complement, 40 had Down's Syndrome, and 3 had other chromosomal abnormalities, namely a translocation 1;17, a mosaic male/trisomy 18 and a Klinefelter's syndrome. Polymorphic variants involving chromosomes 1, 9, and 14 were also observed. Two other children showed variants of the Y chromosome (one a small Y and the other a metacentric Y). The possible contribution by these abnormal variants to mental retardation is discussed. Details of the abnormal cytogenetic findings are reported.

Matched MeSH terms: Down Syndrome/epidemiology*
Fulltext Audit of birth defects in 34,109 deliveries in a tertiary referral center

Noraihan MN, See MH, Raja R, Baskaran TP, Symonds EM

Med J Malaysia, 2005 Oct;60(4):460-8.
PMID: 16570708

The objective of the study is to determine the proportion and different types of birth defects among the children born in Hospital Kuala Lumpur. A cross-sectional study was conducted for a period of 18 months where all consecutively born infants, dead or alive were included. There were total of 34,109 births recorded during this period. The proportion of birth defects in Hospital Kuala Lumpur was 3.1% (n = 1056). The commonest involved were the hematology system, (157.7 per 10,000 births), the central nervous system, genitourinary system and chromosomal anomalies. The proportion was significantly higher in males and in the Chinese (p < 0.001). The commonest abnormalities are Glucose 6 Phosphate Deficiency (157.7/10000), Down's syndrome (12.6/10000), thalassaemia (8.8/10000), cleft lip and/or palate (7.6/10000) and anencephaly (7.3/10000). Neural tube defect is common and ranked second after G6PD deficiency. There is a need for a birth defect registry to assess the extent of the problem in Malaysia.

Matched MeSH terms: Down Syndrome/epidemiology
Prenatal detection of birth defects in a Malaysian population: estimation of the influence of termination of pregnancy on birth prevalence in a developing country

Ho JJ, Thong MK, Nurani NK

Aust N Z J Obstet Gynaecol, 2006 Feb;46(1):55-7.
PMID: 16441696

We studied 253 women with a pregnancy complicated by a birth defect and 506 controls to determine the frequency and type of prenatal tests and the types of defects detected antenatally. Most women had at least one ultrasound examination, but the frequency of other screening tests was low. Only 38 (15%) of defects were detected antenatally (37 by ultrasound). Birth prevalence is unlikely to be affected by pregnancy termination.

Matched MeSH terms: Down Syndrome/epidemiology
Ten-year trend in prevalence and outcome of Down syndrome with congenital heart disease in a middle-income country

Zahari N, Mat Bah MN, A Razak H, Thong MK

Eur J Pediatr, 2019 Aug;178(8):1267-1274.
PMID: 31222391 DOI: 10.1007/s00431-019-03403-x

Limited data are available on the survival of patients with Down syndrome and congenital heart disease (CHD) from middle-income countries. This retrospective cohort study was performed to determine the trends in the prevalence and survival of such patients born from January 2006 to December 2015 in Malaysia. Among 754 patients with Down syndrome, 414 (55%) had CHD, and no significant trend was observed during the 10 years. Of these 414 patients, 30% had lesions that closed spontaneously, 35% underwent surgery/intervention, 9% died before surgery/intervention, and 10% were treated with comfort care. The overall mortality rate was 23%, the median age at death was 7.6 months, and no significant changes occurred over time. The early and late post-surgery/intervention mortality rates were 0.7% and 9.0%, respectively. Most deaths were of non-cardiac causes. The overall 1-, 5-, and 10-year survival rates were 85.5%, 74.6%, and 72.9%, respectively. Patients with severe lesions, persistent pulmonary hypertension of the newborn, atrioventricular septal defect, and pulmonary hypertension had low survival at 1 year of age.Conclusion: The prevalence of CHD in patients with Down syndrome is similar between Malaysia and high-income countries. The lower survival rate is attributed to limited expertise and resources which limit timely surgery. What is Known: • The survival of patients with Down syndrome with congenital heart disease (CHD) has improved in high-income countries. However, little is known about the survival of patients with Down syndrome with CHD from middle-income countries. • In the Caucasian population, atrioventricular septal defect is the most common type of CHD associated with Down syndrome. What is New: • In middle-income countries, the prevalence of CHD is the same as in high-income countries, but with a lower survival rate. • In the Asian population, ventricular septal defect is the most common type of CHD in patients with Down syndrome.

Matched MeSH terms: Down Syndrome/epidemiology*
Fulltext Cytogenetic and clinical profile of Down syndrome in Northeast Malaysia

Azman BZ, Ankathil R, Siti Mariam I, Suhaida MA, Norhashimah M, Tarmizi AB, et al.

Singapore Med J, 2007 Jun;48(6):550-4.
PMID: 17538755

This study was designed to evaluate the karyotype pattern, clinical features and other systemic anomalies of patients with Down syndrome in Malaysia.

Matched MeSH terms: Down Syndrome/epidemiology
Fulltext Malocclusion and orthodontic treatment need evaluated among subjects with Down syndrome using the Dental Aesthetic Index (DAI)

Abdul Rahim FS, Mohamed AM, Nor MM, Saub R

Angle Orthod, 2014 Jul;84(4):600-6.
PMID: 24417495 DOI: 10.2319/062813-480.1

OBJECTIVE: To determine the prevalence of malocclusion and need for orthodontic treatment among persons with Down Syndrome (DS).
MATERIALS AND METHODS: Study participants were 113 persons with DS from the selected community-based rehabilitation center who fulfilled the inclusion and exclusion criteria. Ten occlusal characteristics of the Dental Aesthetic Index (DAI) were measured on study models to determine the degree of malocclusion. A single score represented the dentofacial anomalies, determined the level of severity, and determined the need for orthodontic treatment.
RESULTS: Crowding in the anterior maxillary and mandibular arch was the main malocclusion problems among the subjects with DS. Comparison between age group and genders revealed no significant differences in four categories of orthodontic treatment need (P > .05).
CONCLUSION: Most of the subjects with DS (94; 83.2%) had severe and very severe malocclusion, which indicated a desirable and mandatory need for orthodontic treatment.

Matched MeSH terms: Down Syndrome/epidemiology*
Down syndrome in diverse populations

Kruszka P, Porras AR, Sobering AK, Ikolo FA, La Qua S, Shotelersuk V, et al.

Am J Med Genet A, 2017 Jan;173(1):42-53.
PMID: 27991738 DOI: 10.1002/ajmg.a.38043

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 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.

Matched MeSH terms: Down Syndrome/epidemiology*
Cytogenetic profile of patients with clinical spectrum of ambiguous genitalia, amenorrhea, and Turner phenotype: A 21-year single-center experience

Elkarhat Z, Belkady B, Charoute H, Zarouf L, Razoki L, Aboulfaraj J, et al.

Am J Med Genet A, 2019 08;179(8):1516-1524.
PMID: 31207162 DOI: 10.1002/ajmg.a.61257

The aim of the present study was to determine the frequency and nature of chromosomal abnormalities involved in patients with the clinical spectrum of ambiguous genitalia (AG), amenorrhea, and Turner phenotype, in order to compare them with those reported elsewhere. The study was conducted in the Cytogenetic Department of Pasteur Institute of Morocco, and it reports on the patients who were recruited between 1996 and 2016. Cytogenetic analysis was performed according to the standard method. Among 1,415 patients, chromosomal abnormalities were identified in 7.13% (48/673) of patients with AG, 17.39% (28/161) of patients with primary amenorrhea (PA), 4% (1/25) of patients with secondary amenorrhea, and 23.20% (129/556) of patients with Turner phenotype. However, Turner syndrome was diagnosed in 0.89% (6/673) of patients with AG, 10.56% (17/161) of patients with PA, and 19.78% (110/556) of patients with Turner phenotype. In addition, Klinefelter syndrome and mixed gonadal dysgenesis were confirmed in 2.97% and 1.93% of patients, respectively, with AG, while, chimerism, trisomy 8, and trisomy 13 were confirmed only in 0.15% each. Trisomy 21 was confirmed in patients with AG and Turner phenotype (0.15% and 0.36%, respectively). Moreover, 5.60% (9/161) of patients with PA have been diagnosed as having sex reversal. Thus, the frequency of chromosomal abnormalities observed in Moroccan patients with PA is comparable to that reported in Tunisia, Turkey, Iran, and Hong Kong. However, the frequency is significantly less than that identified in India, Malaysia, Italy, and Romania.

Matched MeSH terms: Down Syndrome/epidemiology