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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/complications*; Down Syndrome/epidemiology*
Fulltext Phenotype microarrays reveal metabolic dysregulations of neurospheres derived from embryonic Ts1Cje mouse model of Down syndrome

Seth EA, Lee HC, Yusof HHBM, Nordin N, Cheah YK, Ho ETW, et al.

PLoS One, 2020;15(7):e0236826.
PMID: 32730314 DOI: 10.1371/journal.pone.0236826

Down syndrome (DS), is the most common cause of intellectual disability, and is characterized by defective neurogenesis during perinatal development. To identify metabolic aberrations in early neurogenesis, we profiled neurospheres derived from the embryonic brain of Ts1Cje, a mouse model of Down syndrome. High-throughput phenotypic microarray revealed a significant decrease in utilisation of 17 out of 367 substrates and significantly higher utilisation of 6 substrates in the Ts1Cje neurospheres compared to controls. Specifically, Ts1Cje neurospheres were less efficient in the utilisation of glucose-6-phosphate suggesting a dysregulation in the energy-producing pathway. T Cje neurospheres were significantly smaller in diameter than the controls. Subsequent preliminary study on supplementation with 6-phosphogluconic acid, an intermediate of glucose-6-phosphate metabolism, was able to rescue the Ts1Cje neurosphere size. This study confirmed the perturbed pentose phosphate pathway, contributing to defects observed in Ts1Cje neurospheres. We show for the first time that this comprehensive energetic assay platform facilitates the metabolic characterisation of Ts1Cje cells and confirmed their distinguishable metabolic profiles compared to the controls.

Matched MeSH terms: Down Syndrome/metabolism; Down Syndrome/pathology*
Hypoechoic liver in fetuses with trisomy 21

Omar PM, Lim WT, Ting YH, Lao TT, Law KM, Cheung AHK, et al.

J Matern Fetal Neonatal Med, 2019 Oct;32(19):3315-3317.
PMID: 29631451 DOI: 10.1080/14767058.2018.1459556

The association between hypoechoic hepatomegaly in the third trimester and transient abnormal myelopoiesis (TAM) was reported previously in six fetuses with trisomy 21 (T21). We report a series of three cases of T21 in which hypoechoic liver (HL) was found in the second trimester but without evidence of TAM on both hematological and histological examination. We postulate that the hypo-echogenicity may be due to liver congestion secondary to hemodynamic disturbances seen in T21 fetuses. All three cases had negative first trimester Down syndrome screening and one case was detected solely because of the isolated finding of HL. HL per se may be associated with T21 and more positive cases are required to support this association.

Matched MeSH terms: Down Syndrome/diagnosis*; Down Syndrome/pathology
Fulltext Assessment and Clinical Utility of a Non-Next-Generation Sequencing-Based Non-Invasive Prenatal Testing Technology

Gormus U, Chaubey A, Shenoy S, Wong YW, Chan LY, Choo BP, et al.

Curr Issues Mol Biol, 2021 Aug 17;43(2):958-964.
PMID: 34449543 DOI: 10.3390/cimb43020068

Background: Rolling-circle replication (RCR) is a novel technology that has not been applied to cell-free DNA (cfDNA) testing until recently. Given the cost and simplicity advantages of this technology compared to other platforms currently used in cfDNA analysis, an assessment of RCR in clinical laboratories was performed. Here, we present the first validation study from clinical laboratories utilizing RCR technology. Methods: 831 samples from spontaneously pregnant women carrying a singleton fetus, and 25 synthetic samples, were analyzed for the fetal risk of trisomy 21 (T21), trisomy 18 (T18) and trisomy 13 (T13), by three laboratories on three continents. All the screen-positive pregnancies were provided post-test genetic counseling and confirmatory diagnostic invasive testing (e.g., amniocentesis). The screen-negative pregnancies were routinely evaluated at birth for fetal aneuploidies, using newborn examinations, and any suspected aneuploidies would have been offered diagnostic testing or confirmed with karyotyping. Results: The study found rolling-circle replication to be a highly viable technology for the clinical assessment of fetal aneuploidies, with 100% sensitivity for T21 (95% CI: 82.35-100.00%); 100.00% sensitivity for T18 (71.51-100.00%); and 100.00% sensitivity for T13 analyses (66.37-100.00%). The specificities were >99% for each trisomy (99.7% (99.01-99.97%) for T21; 99.5% (98.62-99.85%) for T18; 99.7% (99.03-99.97%) for T13), along with a first-pass no-call rate of 0.93%. Conclusions: The study showed that using a rolling-circle replication-based cfDNA system for the evaluation of the common aneuploidies would provide greater accuracy and clinical utility compared to conventional biochemical screening, and it would provide comparable results to other reported cfDNA methodologies.

Matched MeSH terms: Down Syndrome/diagnosis*; Down Syndrome/genetics
GATA1 mutations in patients with down syndrome and acute megakaryoblastic leukaemia do not always confer a good prognosis

Ariffin H, Garcia JC, Daud SS, Ibrahim K, Aizah N, Ong GB, et al.

Pediatr Blood Cancer, 2009 Jul;53(1):108-11.
PMID: 19260099 DOI: 10.1002/pbc.21983

Children with Down syndrome and acute megakaryoblastic leukemia (DS-AMKL) have been shown to have increased sensitivity to cytarabine based chemotherapy. The excellent prognosis in patients with DS-AMKL may be due to mutations in the GATA1 gene leading to reduced expression of the enzyme cytidine deaminase. This leads to a decreased ability to convert cytarabine into its inactive metabolite, resulting in high intracellular concentration of this cytotoxic agent. We report two cases of DS-AMKL with GATA1 mutations who had poor outcome. These patients had high expression levels of cytidine deaminase mRNA transcripts. We speculate that other factors can affect overall outcome in patients with DS-AMKL irrespective of the presence of GATA1 mutations.

Matched MeSH terms: Down Syndrome/complications; Down Syndrome/drug therapy; Down Syndrome/enzymology; Down Syndrome/genetics*
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/diagnosis; Down Syndrome/epidemiology
Identification of chromosome 21 materials using the whole chromosome 21 specific library

Isa MN, Boyd E, Turner TL, Tolmie J, Connor JM

Southeast Asian J. Trop. Med. Public Health, 1995;26 Suppl 1:92-5.
PMID: 8629150

The chromosome in situ suppression hybridization or chromosome painting technic was applied to confirm and eliminate the markers involving chromosome 21 segments using a chromosome 21 DNA library. The library ATCCLL21SNO2 was amplified, directly biotinylated using the polymerase chain reaction. The results demonstrated a translocation of chromosome 21 material on chromosome 2 and X and eliminate the origin of the marker. Thus, the technique provides an important tool to complement the conventional G-banding technic.

Matched MeSH terms: Down Syndrome/diagnosis; Down Syndrome/genetics*
Gene and protein expression profiles of JAK-STAT signalling pathway in the developing brain of the Ts1Cje down syndrome mouse model

Lee HC, Md Yusof HH, Leong MP, Zainal Abidin S, Seth EA, Hewitt CA, et al.

Int J Neurosci, 2019 Sep;129(9):871-881.
PMID: 30775947 DOI: 10.1080/00207454.2019.1580280

Aims: The JAK-STAT signalling pathway is one of the key regulators of pro-gliogenesis process during brain development. Down syndrome (DS) individuals, as well as DS mouse models, exhibit an increased number of astrocytes, suggesting an imbalance of neurogenic-to-gliogenic shift attributed to dysregulated JAK-STAT signalling pathway. The gene and protein expression profiles of JAK-STAT pathway members have not been characterised in the DS models. Therefore, we aimed to profile the expression of Jak1, Jak2, Stat1, Stat3 and Stat6 at different stages of brain development in the Ts1Cje mouse model of DS. Methods: Whole brain samples from Ts1Cje and wild-type mice at embryonic day (E)10.5, E15, postnatal day (P)1.5; and embryonic cortex-derived neurospheres were collected for gene and protein expression analysis. Gene expression profiles of three brain regions (cerebral cortex, cerebellum and hippocampus) from Ts1Cje and wild-type mice across four time-points (P1.5, P15, P30 and P84) were also analysed. Results: In the developing mouse brain, none of the Jak/Stat genes were differentially expressed in the Ts1Cje model compared to wild-type mice. However, Western blot analyses indicated that phosphorylated (p)-Jak2, p-Stat3 and p-Stat6 were downregulated in the Ts1Cje model. During the postnatal brain development, Jak/Stat genes showed complex expression patterns, as most of the members were downregulated at different selected time-points. Notably, embryonic cortex-derived neurospheres from Ts1Cje mouse brain expressed lower Stat3 and Stat6 protein compared to the wild-type group. Conclusion: The comprehensive expression profiling of Jak/Stat candidates provides insights on the potential role of the JAK-STAT signalling pathway during abnormal development of the Ts1Cje mouse brains.

Matched MeSH terms: Down Syndrome/genetics*; Down Syndrome/metabolism
Fulltext Visual and binocular status of Down syndrome children in Malaysia

Mohd-Ali B, Mohammed Z, Norlaila M, Mohd-Fadzil N, Rohani CC, Mohidin N

Clin Exp Optom, 2006 May;89(3):150-4.
PMID: 16637969 DOI: 10.1111/j.1444-0938.2006.00033.x

Down syndrome is a common chromosomal anomaly. Few reported studies make reference to the ocular status in Asian children with Down syndrome. The purpose of this study was to determine the visual and binocular status of a sample of Down syndrome children in Malaysia.

Matched MeSH terms: Down Syndrome/complications; Down Syndrome/physiopathology*
Fulltext GATA1 mutations in a cohort of Malaysian children with Down syndrome-associated myeloid disorder

Lum SH, Choong SS, Krishnan S, Mohamed Z, Ariffin H

Singapore Med J, 2016 Jun;57(6):320-4.
PMID: 27353457 DOI: 10.11622/smedj.2016106

INTRODUCTION: Children with Down syndrome (DS) are at increased risk of developing distinctive clonal myeloid disorders, including transient abnormal myelopoiesis (TAM) and myeloid leukaemia of DS (ML-DS). TAM connotes a spontaneously resolving congenital myeloproliferative state observed in 10%-20% of DS newborns. Following varying intervals of apparent remission, a proportion of children with TAM progress to develop ML-DS in early childhood. Therefore, TAM and ML-DS represent a biological continuum. Both disorders are characterised by recurring truncating somatic mutations of the GATA1 gene, which are considered key pathogenetic events.
METHODS: We herein report, to our knowledge, the first observation on the frequency and nature of GATA1 gene mutations in a cohort of Malaysian children with DS-associated TAM (n = 9) and ML-DS (n = 24) encountered successively over a period of five years at a national referral centre.
RESULTS: Of the 29 patients who underwent GATA1 analysis, GATA1 mutations were observed in 15 (51.7%) patients, including 6 (75.0%) out of 8 patients with TAM, and 9 (42.9%) of 21 patients with ML-DS. All identified mutations were located in exon 2 and the majority were sequence-terminating insertions or deletions (66.7%), including several hitherto unreported mutations (12 out of 15).
CONCLUSION: The low frequency of GATA1 mutations in ML-DS patients is unusual and potentially indicates distinctive genomic events in our patient cohort.

Matched MeSH terms: Down Syndrome/complications; Down Syndrome/genetics*
Fulltext Down syndrome: multimodality imaging of associated congenital anomalies and acquired diseases

Tan AP

Med J Malaysia, 2013 Dec;68(6):482-9.
PMID: 24632922

Down syndrome (Trisomy 21) is the most common chromosomal abnormality among liveborn infants. It is the most frequent form of intellectual disability caused by a microscopically demonstrable chromosomal aberration. Management requires a multidisciplinary approach to the ongoing evaluation and monitoring for associated congenital anomalies and acquired disorders.Trisomy 21 is characterized by a variety of dysmorphic features, congenital anomalies and associated medical conditions. Knowledge of these associated conditions are important for clinicians involved in the management of these patients. Appropriate radiologic imaging with prompt, accurate interpretation plays an important role in the diagnosis and management of these diseases. The primary goal of this pictorial review is to unravel the radiological findings of these associated conditions.

Matched MeSH terms: Down Syndrome
Fulltext Mini-implant supported over denture in a patient with down syndrome: a case report

Vaithilingam, R.D., Mahmood, R.

Ann Dent, 2009;16(1):37-42.
MyJurnal

The presence of macroglossia, a tendency towards poor cooperation and the inability to adapt to compl~te dental prostheses due to motor and mental deficiencies makes the oral rehabilitation of Down Syndrome patients difficult. This article reports on the use of mini implant supported overdenture to rehabilitate a Down Syndrome patient who had difficulty adapting to his new mandibular complete denture. The patient's ability to cooperate during treatment as well as the maintenance of an optimal oral hygiene practice enabled mini-implants to be inserted and maintained 20 months post insertion as evidenced by clinical and radiological findings. To the author's knowledge, this is the first reporting of a successful mini implant supported overdenture in a Down Syndrome patient.

Matched MeSH terms: Down Syndrome
Fulltext Should parental decision override best interest of a handicapped child? A case illustration in a Malaysian child with Down Syndrome

Fashiham Taib, Nur Arzuar Abdul Rahim, Mohd Rizal Mohd Zain, Mohamad Ikram Ilias, Nik Mohd Rizal Mohd Fakri, Zabidi Azhar Hussin

Education in Medicine Journal, 2015;7(1):67-71.
MyJurnal

The paper discusses on the complexity of the issues surrounding a patient with subluxation of cervical spine in a Down syndrome child. Several relevant issues are discussed including consent in a minor, conflicting decision making between parents and doctors, end-of-life issues, supporting handicapped child with minimal co-morbidities, community ethics, neglect of care by the caregiver and decision making after allowing zonal of parental discretion. Despite the difficulties surrounding parental actions, there are still ethical priorities which have to be considered individually to alleviate the suffering of the patients and the family members. Dealing with patients with chronic illnesses is a challenge for any medical doctors. The case warrants sensitive approach to allow appropriate respect for parental decision despite in disagreement with the clinical team. The term ‘zone of parental discretion’ refers to a controversial area of decision making; and has still many potential conflicts on day to day clinical cases, especially among the conservative society in the East Coast of Peninsular Malaysia.

Matched MeSH terms: Down Syndrome
Fulltext Management of otitis media with effusion in children

Zulkiflee S, Siti Sabzah MH, Philip R, Md Aminuddin MY

Malays Fam Physician, 2013;8(2):32-35.
PMID: 25606279 MyJurnal

Otitis media with effusion (OME) is a condition characterised by a collection of fluid within the middle ear without signs of acute inflammation. It is common in young children, with a bimodal peak at two and five years of age. Eighty percent of children have at least one episode of OME by the age of 10 years. This disease is a common ear problem among children with craniofacial anomalies including cleft palate and Down syndrome (DS).

Matched MeSH terms: Down Syndrome
Fulltext Down syndrome and Patau syndrome in the same sibship: random or not?

Foong Eva, Hasliani Hassan, Azizah Othman, Ilunihayati Ibrahim, Nazihah Mohd Yunus, Siti Mariam Ismail, et al.

Malaysian Journal of Paediatrics and Child Health, 2017;23(2):0-0.
MyJurnal

Objectives: Chromosomal abnormalities especially aneuploidies are the most common etiology for pregnancy loss. Trisomy 13, trisomy 18 and trisomy 21 are the most common chromosome autosomal aneuploidies with trisomy 21 (Down syndrome) being the most common chromosomal abnormality among liveborn infants. In previous reports, we noted that the recurrence of these aneuploidies in some families may not occur by chance alone.

Methods: Extraction of relevant data from review of medical case notes of a young couple with two offspring with Down syndrome (DS) and Patau syndrome.

Results: A family history of DS is a predisposing factor for both DS and other types of aneuploidy. Certain instances of non-disjunction error are not random.

Conclusion: As the maternal age was not advanced in both pregnancies, there is a possibility that the recurrent aneuploidy in this family may not be accounted by chance alone. The risk of having subsequent affected pregnancy cannot be ignored in this family and prenatal diagnosis is strongly recommended in the subsequent pregnancy.

Matched MeSH terms: Down Syndrome
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/diagnosis*; Down Syndrome/genetics; Down Syndrome/epidemiology*
Fulltext Comparative study on attitudes and psychological problems of mothers towards their children with developmental disability

Shobana M, Saravanan C

East Asian Arch Psychiatry, 2014 Mar;24(1):16-22.
PMID: 24676483

Objective: Parents’ positive attitudes and psychological wellbeing play an important role in the development of the children with developmental disability. This study aimed to measure the prevalence of psychological problems among mothers of children with autism disorder, intellectual disability, and Down syndrome. The second aim was to assess the differences in mothers’ attitudes and psychological problems among their children with intellectual disability, autism disorder, and Down syndrome. The third aim was to identify whether negative attitude was a predictor of psychological problems in these mothers.
Methods: In this study, 112 mothers of children having mild and moderate levels of autism disorder, Down syndrome, and intellectual disability were assessed using the Parental Attitude Scale and General Health Questionnaire–28.
Results: Overall, mothers of children with intellectual disability were found to have the most negative attitude towards their child. Mothers of children with autism disorder exhibited higher scores on somatic symptoms, anxiety, and social dysfunction when compared with their counterparts with Down syndrome and intellectual disability. Negative attitude was a significant predictor of psychological problems.
Conclusion: Parental attitudes and psychological problems would vary among mothers of children with different types of developmental disability.
Key words: Autistic disorder; Down syndrome; Intellectual disability; Mothers

Matched MeSH terms: Down Syndrome/psychology
Fulltext Transient abnormal myelopoeisis in newborns with Down syndrome

Zarina AL, Hamidah A, Yong SC, Rohana J, Hamidah NH, Azma RZ, et al.

Malays J Pathol, 2007 Dec;29(2):107-11.
PMID: 19108403 MyJurnal

Transient abnormal myelopoeisis (TAM) is a haematological phenomenon commonly seen in newborns with Down syndrome. Although the majority show spontaneous resolution, this condition should not be dismissed too readily as there have been associated fatalities. Furthermore, even for those who do show spontaneous resolution, a significant percentage will develop acute megakaryoblastic leukaemia within the next few years of life. We report a series of four patients with TAM who presented with hepatosplenomegaly and leucocytosis detected on preliminary investigations.

Matched MeSH terms: Down Syndrome/complications*
Fulltext Progressive supra-axial cervical instability in Down syndrome: a case report emphasising the role of extended short-segment fusion

Tan GH, Tan KK, Afian MS, Liew WF, Mohamad AR

Med J Malaysia, 2005 Jul;60 Suppl C:111-3.
PMID: 16381295

We report a case of upper cervical instability associated with Down syndrome to highlight its potential progression to inflict cord compression and the rationale for surgical decompression and extended short segment occipito-axial fusion.

Matched MeSH terms: Down Syndrome/complications*
Fulltext The role of maternal serum alpha-fetoprotein, human chorionic gonadotrophin and oestriol in the antenatal screening of Down's syndrome

Chang TC, Cheng HH

Med J Malaysia, 1994 Dec;49(4):351-4.
PMID: 7545778

The use of maternal age alone to identify pregnant mothers at risk of a fetus with Down's syndrome has recently been supplemented by maternal serum screening using biochemical markers such as alpha-protein, human chorionic gonadotrophin and oestriol. These tests have been reported to increase the sensitivity of antenatal detection of such fetuses from 35% to 67% with a false positive rate of 5%. However, these maternal serum markers may be affected by maternal weight, the smoking history of mothers and diabetes mellitus. Furthermore, such sensitivities are achieved only when gestational age is assessed accurately by ultrasound. Many further studies need to be carried out before the introduction of maternal serum screening into routine obstetric practice in Singapore. These include studies on the incidence of Down's syndrome in the local population, studies on the distribution of these serum markers in the second trimester of pregnancy, sensitivities and positive predictive values of such a test in the local population as well as the socio-economic implications of implementing such a screening test in the local obstetric population.

Matched MeSH terms: Down Syndrome/diagnosis*

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