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  1. Mathu-Muju KR, Friedman JW, Nash DA
    Am J Public Health, 2013 Sep;103(9):e7-e13.
    PMID: 23865650 DOI: 10.2105/AJPH.2013.301251
    The United States faces a significant problem with access to oral health care, particularly for children. More than 50 countries have developed an alternative dental provider, a dental therapist, practicing in public, school-based programs, to address children's access to care. This delivery model has been demonstrated to improve access to care and oral health outcomes while providing quality care economically. We summarize elements of a recent major review of the global literature on the use of dental therapists, "A Review of the Global Literature on Dental Therapists: In the Context of the Movement to Add Dental Therapists to the Oral Health Workforce in the United States." We contrast the success of a school-based model of caring for children by dental therapists with that of the US model of dentists providing care for children in private practices.
    Matched MeSH terms: Child, Preschool
  2. Global Burden of Disease Pediatrics Collaboration, Kyu HH, Pinho C, Wagner JA, Brown JC, Bertozzi-Villa A, et al.
    JAMA Pediatr, 2016 Mar;170(3):267-87.
    PMID: 26810619 DOI: 10.1001/jamapediatrics.2015.4276
    IMPORTANCE: The literature focuses on mortality among children younger than 5 years. Comparable information on nonfatal health outcomes among these children and the fatal and nonfatal burden of diseases and injuries among older children and adolescents is scarce.

    OBJECTIVE: To determine levels and trends in the fatal and nonfatal burden of diseases and injuries among younger children (aged <5 years), older children (aged 5-9 years), and adolescents (aged 10-19 years) between 1990 and 2013 in 188 countries from the Global Burden of Disease (GBD) 2013 study.

    EVIDENCE REVIEW: Data from vital registration, verbal autopsy studies, maternal and child death surveillance, and other sources covering 14,244 site-years (ie, years of cause of death data by geography) from 1980 through 2013 were used to estimate cause-specific mortality. Data from 35,620 epidemiological sources were used to estimate the prevalence of the diseases and sequelae in the GBD 2013 study. Cause-specific mortality for most causes was estimated using the Cause of Death Ensemble Model strategy. For some infectious diseases (eg, HIV infection/AIDS, measles, hepatitis B) where the disease process is complex or the cause of death data were insufficient or unavailable, we used natural history models. For most nonfatal health outcomes, DisMod-MR 2.0, a Bayesian metaregression tool, was used to meta-analyze the epidemiological data to generate prevalence estimates.

    FINDINGS: Of the 7.7 (95% uncertainty interval [UI], 7.4-8.1) million deaths among children and adolescents globally in 2013, 6.28 million occurred among younger children, 0.48 million among older children, and 0.97 million among adolescents. In 2013, the leading causes of death were lower respiratory tract infections among younger children (905.059 deaths; 95% UI, 810,304-998,125), diarrheal diseases among older children (38,325 deaths; 95% UI, 30,365-47,678), and road injuries among adolescents (115,186 deaths; 95% UI, 105,185-124,870). Iron deficiency anemia was the leading cause of years lived with disability among children and adolescents, affecting 619 (95% UI, 618-621) million in 2013. Large between-country variations exist in mortality from leading causes among children and adolescents. Countries with rapid declines in all-cause mortality between 1990 and 2013 also experienced large declines in most leading causes of death, whereas countries with the slowest declines had stagnant or increasing trends in the leading causes of death. In 2013, Nigeria had a 12% global share of deaths from lower respiratory tract infections and a 38% global share of deaths from malaria. India had 33% of the world's deaths from neonatal encephalopathy. Half of the world's diarrheal deaths among children and adolescents occurred in just 5 countries: India, Democratic Republic of the Congo, Pakistan, Nigeria, and Ethiopia.

    CONCLUSIONS AND RELEVANCE: Understanding the levels and trends of the leading causes of death and disability among children and adolescents is critical to guide investment and inform policies. Monitoring these trends over time is also key to understanding where interventions are having an impact. Proven interventions exist to prevent or treat the leading causes of unnecessary death and disability among children and adolescents. The findings presented here show that these are underused and give guidance to policy makers in countries where more attention is needed.

    Matched MeSH terms: Child, Preschool
  3. Sreeramareddy CT, Ramakrishnareddy N, Subramaniam M
    Public Health Nutr, 2015 Nov;18(16):2906-14.
    PMID: 25435296 DOI: 10.1017/S1368980014002729
    OBJECTIVE: To examine the association between household food insecurity score and Z-scores of childhood nutritional status indicators.

    DESIGN: Population-based, cross-sectional survey, Nepal Demographic and Health Survey 2011.

    SETTING: A nationally representative sample of 11 085 households selected by a two-stage, stratified cluster sampling design to interview eligible men and women.

    SUBJECTS: Children (n 2591) aged 0-60 months in a sub-sample of households selected for men's interview.

    RESULTS: Prevalence of moderate and severe household food insecurity was 23·2% and 19·0%, respectively, for children aged 0-60 months. Weighted prevalence rates for stunting (height-for-age Z-score (HAZ) child and environmental factors, household food access insecurity score was associated with HAZ (β=-0·02, P=0·01) and WAZ (β=-0·01, P=0·01) but was not associated with WHZ and BMI-for-age Z-score. A 10-point increase in household food access insecurity score was associated with a decrease in HAZ of 0·2 (95% CI 0·05, 0·39) and decrease in WAZ of 0·1 (95% CI 0·03, 0·27).

    CONCLUSIONS: Our results from a nationally representative sample confirm the previously reported association of household food insecurity with stunting and underweight. Community nutrition interventions may use household food insecurity scales for identifying those households where children may be at risk of growth faltering.

    Matched MeSH terms: Child, Preschool
  4. Hii SYF, Ali NA, Ahmad N, Amran F
    J Med Microbiol, 2017 Nov;66(11):1623-1627.
    PMID: 29048275 DOI: 10.1099/jmm.0.000611
    Melioidosis is an endemic infectious disease in Southeast Asia and northern Australia, caused by Burkholderia pseudomallei. However, the incidence rate in Malaysia is not well documented. The high mortality rate and broad range of clinical presentations require rapid and accurate diagnosis for appropriate treatment. This study compared the efficacy of in-house IgM and IgG ELISA methods using a local B. pseudomallei strain. The diagnostic accuracy of the in-house IgG ELISA was better than that of the IgM ELISA: sensitivity (IgG: 84.71 %, IgM: 76.14 %) and specificity (IgG: 93.64 %, IgM: 90.17 %); positive predictive value (IgG: 86.75 %, IgM: 79.76 %) and negative predictive value (IgG: 92.57 %, IgM: 89.66 %); likelihood ratio (LR) [IgG: 13.32, IgM: 7.75 (LR+); IgG: 0.16, IgM: 0.26 (LR-)], and was supported by the observation of the absorbance value in comparisons between culture and serology sampling. In-house IgG ELISA was shown to be useful as an early diagnostic tool for melioidosis.
    Matched MeSH terms: Child, Preschool
  5. Kang EY, Chong YJ, Chen KJ, Chou HD, Liu L, Hwang YS, et al.
    Graefes Arch Clin Exp Ophthalmol, 2024 Aug;262(8):2685-2694.
    PMID: 38507045 DOI: 10.1007/s00417-024-06402-3
    PURPOSE: To evaluate stereopsis in term-born, preterm, and preterm children with and without retinopathy of prematurity (ROP) and its treatment.

    METHODS: The cross-sectional study included 322 children between 3 and 11 years of age born term or preterm, with or without ROP, and with or without treatment for ROP. The ROP treatments were laser therapy, intravitreal injection (IVI) of anti-vascular endothelial growth factor, or their combination. Stereoacuity was measured using the Titmus Stereo Test, and the results among various age groups were analyzed.

    RESULTS: Stereopsis was found to improve with increasing age at testing (P  0.05). No significant differences in stereopsis were identified between children with ROP treated with laser versus with IVI (P > 0.05). From multivariate analysis, younger age at testing (P = 0.001) and younger gestational age (P 

    Matched MeSH terms: Child, Preschool
  6. Azizi BH, Zulkifli HI, Kasim MS
    PMID: 8629061
    We performed a case control study to examine protective and risk factors for acute respiratory infections (ARI) in hospitalized children in Kuala Lumpur. Consecutive children between the ages of one month and five years hospitalized for pneumonia (n = 143), acute bronchiolitis (n = 92), acute laryngotracheobronchitis (n = 32) and empyema (n = 4) were included as cases and were compared with 322 children hospitalized during the same 24 hour period for non-respiratory causes. Potential risk and protective factors were initially analysed by univariate analysis. Logistic regression analysis confirmed that several home environmental factors were significantly associated with ARI. The presence of a coughing sibling (OR = 3.76, 95%CI 2.09, 6.77), a household with more than five members (OR = 1.52, 95%CI 1.03, 2.19) and sleeping with three other persons (OR = 1.45, 95%CI 1.00, 2.08) were independent risk factors. Significant host factors were history of allergy (OR = 2.50, 95%CI 1.74, 3.61) and ethnicity (Malay race) (OR = 2.07 95%CI, 1.27, 3.37). Breast feeding for at least one month was confirmed as an independent protective factor (OR = 0.58, 95%CI 0.38, 0.86). However, the study was not able to demonstrate that domestic air pollution had an adverse effect. This study provides further evidence that home environmental factors, particularly those associated with crowding, may predispose to ARI and that breast feeding is an important protective factor.
    Matched MeSH terms: Child, Preschool
  7. Chua KB, Khairullah NS, Hooi PS
    PMID: 9031408
    Sera from healthy donors and patients stored over a period of 2 years, aged 1 to 83 years, were examined for reactivity to human herpes virus 6 (HHV-6) by the standard indirect immunofluorescence assay (IFA). Of the 600 serum specimens screened, 502 showed positive reactivity to HHV-6. This gives an overall seropositive rate of 83.7%. There is no significant difference in the overall positive rate between the ethnic groups (Chinese, Malays, Indians) (chi 2 = 0.35 df = 2 p > 0.05). However, there is significant difference in the positive rates at the extreme age groups of 1 year as well as 61 years and above. From birth up to below 1 year of age, the seroprevalence rate was 82%. At one year of age the positive rate decreased to 66% before gradually rising so that the percentage seropositivity of 6 to 10 years old becomes similar to that in older children and adults (11 to 40 years). The positive rate then starts to decline after 40 years of age. Using a standardized scoring system, the corresponding antibody titer was found to be high in the very young population and starts to decline after the age of 15 years. This suggests that in our population group, primary infection occurs mainly in the pediatric age group. It also accounts for the low positive rate in the age group of 61 years and above, as by then the titer had fallen to the level below the detection limits of the assay system.
    Matched MeSH terms: Child, Preschool
  8. Samuel S, Vadivelu J, Parasakthi N
    PMID: 9322293
    Amongst 107 diarrheal cases studied a bacterial agent was isolated from 71 (66%) cases of which 60 (85%) were due to a single agent and the remaining 11 (15%) were of mixed infections. Enterotoxigenic Escherichia coli (ETEC) was isolated from 65 cases. Other pathogens isolated included Salmonella spp, Shigella spp and rotavirus. There was a higher isolation rate of ETEC from females and rotavirus from males. The infection rate was found to higher for the 0-2 year age group as compared to the 3-5 year age group. Amongst the ETEC isolated the STa 2 toxotype was the predominant type.
    Matched MeSH terms: Child, Preschool
  9. Ahmad R, Rahmat R, Hisamudin N, Rahman NA, Noh AY, Mohammad N, et al.
    PMID: 20578468
    Early identification and rapid treatment of red tag patients may decrease morbidity and mortality. We examined the clinical characteristics, etiologies and one week mortality rate of red tag (life threatening and potentially life threatening illness) patients at the Hospital Universiti Sains Malaysai (HUSM). A cross-sectional study was conducted at the Emergency Department of the HUSM from 1 August 2006 to 31 January 2007; 440 eligible patients were analyzed. The group had a mean age of 47.2 +/- 22 years, with 67.3% of the patients being male. Twenty-three percent were trauma cases with motor vehicle accident being the major mechanism of injury. Fifty-four percent of the cases had cardiac related illnesses. The mean duration of stay in the Emergency Department (ED) was 3.9 +/- 1.5 hours. The survival rate at one week was 76.6%. The non-trauma group comprised 74.0% of death cases. Acute coronary syndrome and road traffic accidents comprised 22.0% of total death cases at one week. Red tag patients constitute a large proportion of ED cases and may remain in the ED for significant periods of time.

    Study site: Hospital Universiti Sains Malaysia (HUSM)
    Matched MeSH terms: Child, Preschool
  10. Gopinath VK, Muda WA
    PMID: 15906679
    Feeding difficulties in cleft lip and palate (CLP) infants is commonly observed and is the most traumatic experience the family has to face. These infants are undernourished and have compromised growth. The purpose of this study was to 1) assess general health and growth parameters in children with CLP and in normal children; and 2) investigate the feeding methods of CLP infants and normal infants. A total of 221 children from birth to six years of both sexes, with CLP (60 children) and normal (161 children) were selected. The CLP and normal children were divided into three subgroups by age. The practice of feeding the infants in subgroup I was assessed using standard piloted questionnaires. The assessment of growth was done at baseline and at six months in all the subgroups.The general well being of the children was assessed by noting the number of common infections. Results showed that a significantly higher percentage of mothers with normal babies (p < 0.01) had a positive attitude towards breast feeding. When compared to normal children, CLP children were more susceptible to infections (p < 0.05) and measured significantly lower on the height growth curve(p < 0.05). Hence, height can be used to monitor growth in CLP children.
    Matched MeSH terms: Child, Preschool
  11. Nissapatorn V, Lim YA, Jamaiah I, Agnes LS, Amyliana K, Wen CC, et al.
    PMID: 16438180
    A total of 1,885 blood and stool samples of four main protozoan parasitic infections were retrospectively reviewed from January, 2000 to April, 2004. Eleven of the 1,350 stool samples were shown positive for Cryptosporidium and Giardia infections; one of the 5 cases was clinically diagnosed as gastrointestinal cryptosporidiosis, while 6 cases were giardiasis. In patients with giardiasis, children were among the high-risk groups, making up 66.7% of these patients. The common presenting signs and symptoms were: diarrhea (83.3%), loss of appetite (83.3%), lethargy (83.3%), fever (66.7%), nausea/vomiting (50.0%), abdominal pain (16.7%), dehydration (16.7%) and rigor and chills (16.7%). Metronidazole was the drug of choice and was given to all symptomatic patients (83.3%). For the blood samples, 28 of the 92 peripheral smears for Plasmodium spp infection were diagnosed as malaria. The age range was from 4 to 57, with a median of 32.5 years. The sex ratio (M:F) was 3.6:1, while the age group of 30-44 years was the most commonly affected in both sexes. The majority of patients were foreigners (60.7%) and non-professional (39%). Plasmodium vivax (71%) infection was the most common pathogen found in these patients, along with a history of traveling to an endemic area of malaria (31%). The predominant presenting signs and symptoms were: fever (27%), rigor and chills (24%), nausea/vomiting (15%) and headache (8%). Chloroquine and primaquine was the most common anti-malarial regimen used (78.6%) in these patients. The seroprevalence of toxoplasmosis in different groups was 258/443 (58%): seropositive for IgG 143 (32.3%); IgM 67 (15%); and IgG + IgM 48 (10.8%). The age range was from 1 to 85, with a mean of 34 (+/- SD 16.6) years. The predominant age group was 21 to 40 years (126; 28.4%). The sex ratio (M:F) was 1.2:1. Subjects were predominantly male (142; 32%) and the Malay (117; 26.4%). Of these, 32 cases were clinically diagnosed with ocular toxoplasmosis. The range of age was from 10 to 56 years with a mean of 30.5 (+/- SD 12.05) years. The sex ratio (M:F) was 1:1.7. The majority were in the age group of 21 to 40 years, female (20; 62.5%), and Malay (17; 53%). They were also single (16; 50%), unemployed (12; 37%), and resided outside Kuala Lumpur (21; 65.6%). The more common clinical presentations were blurring of vision (25; 78%), floaters (10; 31%) and pain in the eye (7; 22%). We found that funduscopic examination (100%) and seropositivity for anti-Toxoplasma antibodies (93.7%) were the main reasons for investigation. Choroidoretinitis was the most common clinical diagnosis (69%), while clindamycin was the most frequently used antimicrobial in all cases. Among HIV-infected patients, 10 cases were diagnosed as AIDS-related toxoplasmic encephalitis (TE) (9 were active and 1 had relapse TE). In addition, 1 case was confirmed as congenital toxoplasmosis.
    Matched MeSH terms: Child, Preschool
  12. Lee WS, Hafeez A, Hassan H, Raja NS, Puthucheary SD
    PMID: 16124437
    A retrospective review of patients with focal non-typhoidal Salmonella (NTS) infection was performed to determine its features and outcome. All patients with focal NTS infection admitted to the University of Malaya Medical Center, Malaysia, from 1993 to 2002 were studied. More than half (58%) of the 35 cases (54% male, median age 39 years, range 1.5 months to 79 years) were immunocompromized or had chronic medical conditions. One-third of the patients (34%) had superficial infections (lymphadenitis or subcutaneous tissue infection) and all recovered with antimicrobial therapy alone. Deep infections (66%) noted were: meningitis (9%), osteomyelitis or arthritis (26%), abscesses of the gastrointestinal tract or adjacent organs (20%), and others (11%). Deep infections were more likely to occur in the extremes of age (<6 months or >60 years, p< 0.04), associated with adverse outcomes with an overall mortality rate of 9%, or required major surgery (15%).
    Matched MeSH terms: Child, Preschool
  13. Zulkifli A, Khairul Anuar A, Atiya AS
    PMID: 10695800
    A cross-sectional survey of the nutritional status of children aged 1-10 years old from the Kuala Betis resettlement villages was carried out. A total of 620 children were examined, of which 329 were preschool children and 291 were schoolchildren. The age was determined and anthropometric measurements such as weight, height and MUAC were taken. The nutritional status was assessed by looking at the distributions of the z-scores of weight-for-age (WAZ), height-for-age (HAZ) and weight-for-height (WHZ) in relation to the growth charts of the National Center for Health Statistics reference population. It was found that the nutritional status of the Orang Asli children was poor, with a prevalence of 33.7-65.3% underweight, 55.3-74.4% stunting and 4.4-29.7% wasting based on the NCHS reference values. The prevalence of malnutrition among the Malay children was lower, underweight--7.3-34.1%, stunting--9.8-34.1% and wasting--1.7-17.1%. The nutritional status of the Orang Asli children were poorer compared to the Malay children. More preschool Orang Asli children were stunted compared to the Orang Asli schoolchildren. This may be due to the poor economic base of the Orang Asli community during the transformation period after resettlement. A comprehensive primary health care program is essential, especially targeting the preschool Orang Asli children in these resettlement villages.
    Matched MeSH terms: Child, Preschool
  14. Saat Z, Sinniah M, Kin TL, Baharuddin R, Krishnasamy M
    PMID: 10695797
    A total of 1,157 sera from jaundiced patients with clinical and biochemical evidence of liver disease received from government hospital in Kelantan and Terengganu, during the period from 1994 to 1997, were investigated to determine the cause. Hepatitis A virus was found to be the main cause in 26.1% (24/92) of symptomatic clinical hepatitis cases in 1994, 47.8% (63/132) in 1995, 66.4% (613/923) in 1996 and 20% (2/10) in 1997. Sera received in 1996 were also tested for hepatitis B, hepatitis C, hepatitis D and hepatitis E. 1.4% (13/923) anti-bodies were found to be positive for HBc IgM indicating recent HBV infection, 5.4% (50/923) for total HCV Ab, 0.9% (8/923) for total HDV Ab and 0.4% (4/923) for anti-HEV IgM. This study shows that HAV is still a major problem in Kelantan and Terengganu, and there is a need to identify effective strategies for prevention and control in these two states.
    Matched MeSH terms: Child, Preschool
  15. Lum LC, Lam SK, George R, Devi S
    PMID: 8160054
    Eight cases of liver failure and encephalopathy were observed among twenty cases of grade 3 and grade 4 dengue hemorrhagic fever/dengue shock syndrome admitted to the Department of Pediatrics, University Hospital, Kuala Lumpur from January 1990 to December 1991. All patients with deterioriation in mental status showed a marked increase in liver enzymes (aspartate and alanine aminotransaminases) and severe coagulopathy. Six patients needed cerebral protection, including ventilation, intravenous sedation and muscle relaxants. There was one death during the period of study and one case of residual hemiparesis in a boy who had, in addition, intracerebral hemorrhage. All other survivors had complete recovery of liver and neurological function.
    Matched MeSH terms: Child, Preschool
  16. Etemadi MR, Jalilian FA, Othman N, Lye MS, Ansari S, Yubbu P, et al.
    J Virol Methods, 2019 07;269:1-6.
    PMID: 30910688 DOI: 10.1016/j.jviromet.2019.03.013
    BACKGROUND: The role of respiratory viruses as the major cause of acute lower respiratory tract infections (ALRTIs) in children is becoming increasingly evident due to the use of sensitive molecular detection methods. The aim of this study was to use conventional and molecular detection methods to assess the epidemiology of respiratory viral infections in children less than five years of age that were hospitalized with ALRTIs.

    METHODS: The cross-sectional study was designed to investigate the occurrence of respiratory viruses including respiratory syncytisl virus (RSV), human metapneumovirus (HMPV), influenza virus A and B (IFV-A and B), parainfluenzavirus 1, 2, 3 and 4 (PIV 1, 2, 3 and 4), human rhinoviruses (HRV), human enterovirus (HEV), human coronaviruses (HCoV) 229E and OC43, human bocavirus (HBoV) and human adenovirus (HAdV) in hospitalized children with ALRTIs, at Hospital Serdang, Malaysia, from June 16 to December 21, 2009. The study was also designed in part to assess the performance of the conventional methods against molecular methods.

    RESULTS: Viral pathogens were detected in 158 (95.8%) of the patients. Single virus infections were detected in 114 (67.9%) patients; 46 (27.9%) were co-infected with different viruses including double-virus infections in 37 (22.4%) and triple-virus infections in 9 (5.5%) cases. Approximately 70% of samples were found to be positive using conventional methods compared with 96% using molecular methods. A wide range of respiratory viruses were detected in the study. There was a high prevalence of RSV (50.3%) infections, particularly group B viruses. Other etiological agents including HAdV, HMPV, IFV-A, PIV 1-3, HBoV, HCoV-OC43 and HEV were detected in 14.5, 9.6, 9.1, 4.8, 3.6, 2.4 and 1.8 percent of the samples, respectively.

    CONCLUSION: Our results demonstrated the increased sensitivity of molecular detection methods compared with conventional methods for the diagnosis of ARTIs in hospitalized children. This is the first report of HMPV infections in Malaysia.

    Matched MeSH terms: Child, Preschool
  17. Barber BE, William T, Jikal M, Jilip J, Dhararaj P, Menon J, et al.
    Emerg Infect Dis, 2011 May;17(5):814-20.
    PMID: 21529389 DOI: 10.3201/eid1705.101489
    Plasmodium knowlesi can cause severe malaria in adults; however, descriptions of clinical disease in children are lacking. We reviewed case records of children (age <15 years) with a malaria diagnosis at Kudat District Hospital, serving a largely deforested area of Sabah, Malaysia, during January-November 2009. Sixteen children with PCR-confirmed P. knowlesi monoinfection were compared with 14 children with P. falciparum monoinfection diagnosed by microscopy or PCR. Four children with knowlesi malaria had a hemoglobin level at admission of <10.0 g/dL (minimum lowest level 6.4 g/dL). Minimum level platelet counts were lower in knowlesi than in falciparum malaria (median 76,500/μL vs. 156,000/mL; p = 0.01). Most (81%) children with P. knowlesi malaria received chloroquine and primaquine; median parasite clearance time was 2 days (range 1-5 days). P. knowlesi is the most common cause of childhood malaria in Kudat. Although infection is generally uncomplicated, anemia is common and thrombocytopenia universal. Transmission dynamics in this region require additional investigation.
    Matched MeSH terms: Child, Preschool
  18. Chua KB, Voon K, Yu M, Ali WN, Kasri AR, Wang LF
    Emerg Infect Dis, 2011 Aug;17(8):1562-4.
    PMID: 21801653 DOI: 10.3201/eid1708.101380
    Matched MeSH terms: Child, Preschool
  19. Habib A, Idrus H, Malik NAA, Nor AM, Nasohah SM, Moey LH, et al.
    Clin Biochem, 2024 Dec;133-134:110828.
    PMID: 39322052 DOI: 10.1016/j.clinbiochem.2024.110828
    BACKGROUND: Hyperhomocysteinemia can be due to various abnormalities of the complex interaction of methionine, folate and vitamin B12. It has been known to be a cardiovascular risk factor. This study aims to review the clinical presentation, underlying causes and clinical outcome in paediatric patients diagnosed with significant hyperhomocysteinemia in Malaysia.

    DESIGN AND METHODS: Data were obtained from the medical records and the laboratory information system. Paediatric patients with significant hyperhomocysteinemia were identified from a selective high-risk screening of 96,721 patients, performed between 2010 and 2022. Inclusion criteria for the study were paediatric patients with significant hyperhomocysteinemia (>40 µmol/L).

    RESULTS: Sixteen patients were identified. The average total homocysteine (tHcy) and methionine were 269 µmol/L and 499 µmol/L in cystathionine β-synthase deficiency (CBS), 127 µmol/L and 29 µmol/L in patients with remethylation defects and 390 µmol/L and 4 µmol/L in congenital B12 deficiency. We found c.609G>A as the most prevalent mutation in MMACHC gene and possible novel mutations for CBS (c.402del, c.1333C>T and c.1031T>G) and MTHFR genes (c.266T>A and c.1249del). Further subclassification revealed CBS was 5/16 patients (31 %), remethylation defects was 9/16 (56 %) and congenital B12 deficiency was 2/16 (13 %). All patients received standard treatment and regular monitoring of the main biomarkers. The average age at the time of diagnosis were 9.2 years (CBS) and 1.2 years (remethylation defects). Congenital B12 deficiency had slight delay in milestones, remethylation defects had mild to moderate learning disabilities, CBS had variable degree of intellectual disability, delayed milestones, ophthalmological abnormalities, and thrombosis at an early adolescent/adulthood.

    CONCLUSIONS: The majority of significant hyperhomocysteinemia in Malaysian children was due to remethylation defects. Screening for hyperhomocysteinemia in Malaysian children is recommended for earlier treatment and improved clinical outcome.

    Matched MeSH terms: Child, Preschool
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