Objective: The present study examined the sensitivity and specificity of M-CHAT-Malay version [M-CHAT(MV)] to discriminate ASD from other developmental-behavioural disorders. Methods: This study was carried out in the Child Development Centre at a tertiary referral centre. Parents of 130 children aged 18–60 months, referred for developmental-behavioural disorders were asked to complete M-CHAT(MV). A child was considered to have ASD ifthey failed any 3 of the 23 total items or 2 or more of the 6 critical items. Results: Looking at the total items, M-CHAT(MV) has a good sensitivity (88.9%) to differentiate between ASD and other developmental-behavioural disorders, although specificity was only 47.8%. However, the critical items only has sensitivity of 71.4% and specificity of 77.6%. Sensitivity for children aged 49–60 months old was lower (80.0%) compared to those in the younger age group (100.0% and 90.3% for those aged 25-36 months and 37–48 months respectively). Based on the ROC curve, the optimal criteria to detect ASD was failing 1 out of 6 critical items or 3 out of 23 total items. Conclusion: M-CHAT(MV) is a good screening tool in differentiating ASD from other developmental-behavioural disorders although the critical items’ criteria may need to be lowered to improve its sensitivity in selected cohorts.
Nor Azian Abdul Murad, Sue-Mian, Then, Mohd Ridhwan Abdul Razak, Conjeevaram, Rajendrarao Thambidorai, Sri Noraima Othman, Rosniza Mohamad Hussain, et al.
Hirschsprung’s disease (HSCR) is a disorder associated with congenital absence of ganglion cells in the
gastrointestinal tract. Molecular analyses have identified variants in various genes including RET, GDNF,
EDN3 and EDNRB that are involved in the development, migration and survival of neural cells. Variants
in the receptor tyrosine kinase (RET) are most common and have been identified in 10-20% of sporadic
HSCR patients. The objective of this study was to screen for RET gene variants in Malaysian patients with
HSCR. Thirty-two patients with HSCR and 30 normal controls were recruited for this study. Mutations
were screened using the Polymerase Chain Reaction – Denaturing High Performance Liquid
Chromatography (PCR-dHPLC) approach. Mutations identified were then confirmed using Sanger
sequencing. We identified one novel rare variant in exon 4 (A268A c807 G>C) in one patient. We also
identified the common coding sequence variantsA45A (c135G>A), A432A (c1296A>G), L769L (c2307 T>G)
and the G691S in our cohort of patients. In conclusion, our Malaysian patients with HSCR diseases showed
the presence of similar RET gene common variants which have been described in other populations. We
have also identified a novel variant in exon 4 (A268A).
Health-Related Quality of Life (HRQOL) in pediatric leukemia patients in Malaysia has not been studied before. This was mainly due to a lack of databases on patients in the past. Many patients abandoned treatment or were lost to follow up. With more children now fully compliant and completing treatment nowadays, with higher cure rate, HRQOL has become important for our patients. The purpose of the current study was to determine the HRQOL scores in children with acute leukemia and to compare the scores for those on maintenance chemotherapy with those off-treatment as well as to determine factors which might affect HRQOL.
The purpose of the current study was to determine the prevalence of use of complementary and alternative medicine (CAM) by children with cancer and to compare the characteristics of CAM users and CAM nonusers.
To determine the behavioural impact of chemotherapy in survivors of acute lymphoblastic leukaemia (ALL) treated with chemotherapy only and to identify treatment-related or sociodemography-related factors that might be associated with behavioural outcome.