Displaying publications 1 - 20 of 32 in total

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  1. Nakashima M, Tohyama J, Nakagawa E, Watanabe Y, Siew CG, Kwong CS, et al.
    J Hum Genet, 2019 Apr;64(4):313-322.
    PMID: 30655572 DOI: 10.1038/s10038-018-0559-z
    Casein kinase 2 (CK2) is a serine threonine kinase ubiquitously expressed in eukaryotic cells and involved in various cellular processes. In recent studies, de novo variants in CSNK2A1 and CSNK2B, which encode the subunits of CK2, have been identified in individuals with intellectual disability syndrome. In this study, we describe four patients with neurodevelopmental disorders possessing de novo variants in CSNK2A1 or CSNK2B. Using whole-exome sequencing, we detected two de novo variants in CSNK2A1 in two unrelated Japanese patients, a novel variant c.571C>T, p.(Arg191*) and a recurrent variant c.593A>G, p.(Lys198Arg), and two novel de novo variants in CSNK2B in Japanese and Malaysian patients, c.494A>G, p.(His165Arg) and c.533_534insGT, p.(Pro179Tyrfs*49), respectively. All four patients showed mild to profound intellectual disabilities, developmental delays, and various types of seizures. This and previous studies have found a total of 20 CSNK2A1 variants in 28 individuals with syndromic intellectual disability. The hotspot variant c.593A>G, p.(Lys198Arg) was found in eight of 28 patients. Meanwhile, only five CSNK2B variants were identified in five individuals with neurodevelopmental disorders. We reviewed the previous literature to verify the phenotypic spectrum of CSNK2A1- and CSNK2B-related syndromes.
    Matched MeSH terms: Developmental Disabilities/complications; Developmental Disabilities/genetics*; Developmental Disabilities/physiopathology
  2. Nakashima M, Kato M, Matsukura M, Kira R, Ngu LH, Lichtenbelt KD, et al.
    J Hum Genet, 2020 Sep;65(9):727-734.
    PMID: 32341456 DOI: 10.1038/s10038-020-0758-2
    The ubiquitin-proteasome system is the principal system for protein degradation mediated by ubiquitination and is involved in various cellular processes. Cullin-RING ligases (CRL) are one class of E3 ubiquitin ligases that mediate polyubiquitination of specific target proteins, leading to decomposition of the substrate. Cullin 3 (CUL3) is a member of the Cullin family proteins, which act as scaffolds of CRL. Here we describe three cases of global developmental delays, with or without epilepsy, who had de novo CUL3 variants. One missense variant c.854T>C, p.(Val285Ala) and two frameshift variants c.137delG, p.(Arg46Leufs*32) and c.1239del, p.(Asp413Glufs*42) were identified by whole-exome sequencing. The Val285 residue located in the Cullin N-terminal domain and p.Val285Ala CUL3 mutant showed significantly weaker interactions to the BTB domain proteins than wild-type CUL3. Our findings suggest that de novo CUL3 variants may cause structural instability of the CRL complex and impairment of the ubiquitin-proteasome system, leading to diverse neuropsychiatric disorders.
    Matched MeSH terms: Developmental Disabilities/complications; Developmental Disabilities/genetics*; Developmental Disabilities/physiopathology
  3. Naji, H.R., Sahri, M.H., Bakar, E.S., Soltani, M., Hamid, H.A.
    ASM Science Journal, 2014;8(1):36-43.
    MyJurnal
    Wood density and types of shrinkage were examined in two rubberwood latex timber clones of rubber (Hevea brasiliensis) namely RRIM 2020 and RRIM 2025, planted at densities of 500, 1000, 1500, and 2000 trees/ha, within a trial plot. The mean wood density showed a low descending trend towards high planting densities in both clones. Wood density was significantly and negatively correlated with planting density. The strength of correlation was moderate. The mean longitudinal shrinkage in both clones and tangential shrinkages in clone RRIM 2020 showed no significant difference among planting densities. The tangential (in RRIM 2025), radial and volumetric shrinkages in both clones decreased from low to high planting densities and the differences were more pronounced between densities of 500 trees/ha and 2000 trees/ha. The magnitudes of correlation between these shrinkages and planting density were low. The regression models indicated that wood density could be more ascribed by planting density followed by volumetric shrinkage. This study exhibited low variations in wood density and shrinkages among clones and the respective planting densities; however, RRIM 2025 was more stable than RRIM 2020.
    Matched MeSH terms: Developmental Disabilities
  4. Al-Maweri SA, Ismail NM, Ismail AR, Al-Ghashm A
    Malays J Med Sci, 2013 Jul;20(4):39-46.
    PMID: 24043995 MyJurnal
    Diabetes mellitus is associated with a greater likelihood of developing certain oral mucosal disorders. This study was aimed at assessing the prevalence of oral mucosal lesions (OMLs) in patients with type 2 diabetes (DM2) and to investigate the association of such lesions with metabolic control of the disease.
    Matched MeSH terms: Developmental Disabilities
  5. Rahmah R, Hayati AR, Kuhnle U
    Singapore Med J, 1999 Mar;40(3):151-6.
    PMID: 10402893
    Persistent hyperinsulinaemic hypoglycaemia is a rare metabolic disorder of glucose regulation. It is however the most common cause of persistent hypoglycaemia in the neonatal period. Various drugs have been used with generally poor results, but diazoxide and a long-acting somatostatin analogue, octreotide, have been found to be rather successful. When medical therapy fails, early pancreatectomy is recommended to maintain euglycaemia. Since pancreatectomy seems to carry the long-term risk of diabetes mellitus, some authors recommend long-term medical therapy as an alternative to surgery. The outcome of treatment seems to correlate with neurological status prior to surgery. Even in early recognised and treated patients, publications suggest that a subtle neurological deficit may be present despite apparently normal intelligence. In view of the varying recommendations on treatment and the variations in outcome, we reviewed our experience over a period of three years (1992-1995) to determine whether we could formulate a rational approach to the management.
    Matched MeSH terms: Developmental Disabilities/etiology; Developmental Disabilities/epidemiology
  6. Al-Mekhlafi HM, Al-Maktari MT, Jani R, Ahmed A, Anuar TS, Moktar N, et al.
    PLoS Negl Trop Dis, 2013;7(10):e2516.
    PMID: 24205426 DOI: 10.1371/journal.pntd.0002516
    Giardia duodenalis infection and malnutrition are still considered as public health problems in many developing countries especially among children in rural communities. This study was carried out among Aboriginal (Orang Asli) primary schoolchildren in rural peninsular Malaysia to investigate the burden and the effects of Giardia infection on growth (weight and height) of the children.
    Matched MeSH terms: Developmental Disabilities/epidemiology*; Developmental Disabilities/parasitology*
  7. Almannai M, Marafi D, Zaki MS, Maroofian R, Efthymiou S, Saadi NW, et al.
    Clin Genet, 2024 Jun;105(6):620-629.
    PMID: 38356149 DOI: 10.1111/cge.14492
    PPP1R21 encodes for a conserved protein that is involved in endosomal maturation. Biallelic pathogenic variants in PPP1R21 have been associated with a syndromic neurodevelopmental disorder from studying 13 affected individuals. In this report, we present 11 additional individuals from nine unrelated families and their clinical, radiological, and molecular findings. We identified eight different variants in PPP1R21, of which six were novel variants. Global developmental delay and hypotonia are neurological features that were observed in all individuals. There is also a similar pattern of dysmorphic features with coarse faces as a gestalt observed in several individuals. Common findings in 75% of individuals with available brain imaging include delays in myelination, wavy outline of the bodies of the lateral ventricles, and slight prominence of the bodies of the lateral ventricles. PPP1R21-related neurodevelopmental disorder is associated with a consistent phenotype and should be considered in highly consanguineous individuals presenting with developmental delay/intellectual disability along with coarse facial features.
    Matched MeSH terms: Developmental Disabilities/genetics; Developmental Disabilities/pathology
  8. Mohamed Rohani M, Calache H, Borromeo GL
    Aust Dent J, 2017 Jun;62(2):173-179.
    PMID: 27670933 DOI: 10.1111/adj.12465
    BACKGROUND: Special Needs Dentistry (SND) has been recognized as a dental specialty in Australia since 2003 but there have been no studies addressing the profile of patients for specialist care. The purpose of this study is to identify, via referrals received, the profile of patients and quality of referrals at the largest public SND unit in Victoria, Australia.
    METHODS: All referrals received over a 6-month period (1 January-30 June 2013) by the integrated SND unit (ISNU) were reviewed prior to allocation to the outpatient clinic (OP), domiciliary (DOM) or general anaesthetic (GA) services.
    RESULTS: Six-hundred and eighty-eight referrals were received with the majority for the OP clinic (68.3%), followed by DOM (22.4%) and GA services (9.3%) (χ2  = 360.2, P 
    Matched MeSH terms: Developmental Disabilities/complications; Developmental Disabilities/epidemiology
  9. Joginder Singh S, Iacono T, Gray KM
    Int J Speech Lang Pathol, 2011 Oct;13(5):389-98.
    PMID: 21888557 DOI: 10.3109/17549507.2011.603429
    The aim of this study was to explore the assessment, intervention, and family-centred practices of Malaysian and Australian speech-language pathologists (SLPs) when working with children with developmental disabilities who are pre-symbolic. A questionnaire was developed for the study, which was completed by 65 SLPs from Malaysia and 157 SLPs from Australia. Data reduction techniques were used prior to comparison of responses across questionnaire items. Results indicated that SLPs relied mostly on informal assessments. Malaysian and Australian SLPs differed significantly in terms of obtaining information from outside the clinic to inform assessment. When providing intervention, SLPs focused mostly on improving children's pre-verbal skills. A third of Australian SLPs listed the introduction of some form of symbolic communication as an early intervention goal, compared to only a small percentage of Malaysian SLPs. Regarding family involvement, SLPs most often involved mothers, with fathers and siblings being involved to a lesser extent. Overall, it appeared that practices of Malaysian SLPs had been influenced by developments in research, although there were some areas of service delivery that continued to rely on traditional models. Factors leading to similarities and differences in practice of SLPs from both countries as well as clinical and research implications of the study are discussed.
    Matched MeSH terms: Developmental Disabilities/diagnosis; Developmental Disabilities/psychology; Developmental Disabilities/rehabilitation*
  10. Tay CG, Ariffin H, Yap S, Rahmat K, Sthaneshwar P, Ong LC
    J Child Neurol, 2015 Jun;30(7):927-31.
    PMID: 25122112 DOI: 10.1177/0883073814540523
    Succinic semialdehyde dehydrogenase deficiency is a rare autosomal recessive disorder affecting catabolism of the neurotransmitter gamma-aminobutyric acid (GABA), with a wide range of clinical phenotype. We report a Malaysian Chinese boy with a severe early onset phenotype due to a previously unreported mutation. Urine organic acid chromatogram revealed elevated 4-hydroxybutyric acid. Magnetic resonance imaging (MRI) of the brain demonstrated cerebral atrophy with atypical putaminal involvement. Molecular genetic analysis showed a novel homozygous 3-bp deletion at the ALDH5A1 gene c.1501_1503del (p.Glu501del). Both parents were confirmed to be heterozygotes for the p.Glu501del mutation. The clinical course was complicated by the development of subdural hemorrhage probably as a result of rocking the child to sleep for erratic sleep-wake cycles. This case illustrates the need to recognize that trivial or unintentional shaking of such children, especially in the presence of cerebral atrophy, can lead to subdural hemorrhage.
    Matched MeSH terms: Developmental Disabilities/genetics*; Developmental Disabilities/pathology*; Developmental Disabilities/physiopathology
  11. Toh, Teck Hock
    Int J Public Health Res, 2011;1(2):57-65.
    MyJurnal
    Developmental disabilities in young children are common, and the prevalence is estimated as high as 0.1-1.75% in the children population for each disabilities. With increasing awareness and health expectation, more children with Developmental disabilities are presenting to health care professionals, and at earlier age. Literatures also suggested the importance of early intervention programme in determining the outcome of this group of children. Therefore, it is vital for health professionals who have direct contact with young children are competent in detecting children with possible Developmental disabilities, and have the basic knowledge about some of the common disorders in order to discuss the issues with the parents. It is also important to work with the various resources available in the local community, such as non-governmental organisations for children with special needs, schools offering special education programmes and inclusive classes, and the allied health who provide cares to this group of young children and their family. A lot of information are also available online, and may be offered to help parents gaining more understanding regarding these Developmental disabilities.
    Matched MeSH terms: Developmental Disabilities
  12. Toh TH, Tan VW, Lau PS, Kiyu A
    J Autism Dev Disord, 2018 01;48(1):28-35.
    PMID: 28866856 DOI: 10.1007/s10803-017-3287-x
    This study determined the accuracy of Modified Checklist for Autism in Toddlers (M-CHAT) in detecting toddlers with autism spectrum disorder (ASD) and other developmental disorders (DD) in community mother and child health clinics. We analysed 19,297 eligible toddlers (15-36 months) who had M-CHAT performed in 2006-2011. Overall sensitivities for detecting ASD and all DD were poor but better in the 21 to <27 months and 27-36-month age cohorts (54.5-64.3%). Although positive predictive value (PPV) was poor for ASD, especially the younger cohort, positive M-CHAT helped in detecting all DD (PPV = 81.6%). This suggested M-CHAT for screening ASD was accurate for older cohorts (>21 months) and a useful screening tool for all DD.
    Matched MeSH terms: Developmental Disabilities/diagnosis*; Developmental Disabilities/epidemiology; Developmental Disabilities/psychology
  13. Joginder Singh S, Loo ZL
    Disabil Rehabil Assist Technol, 2023 Nov;18(8):1281-1289.
    PMID: 37017363 DOI: 10.1080/17483107.2023.2196305
    PURPOSE: Augmentative and alternative communication (AAC) systems are often introduced to children with disabilities who demonstrate complex communication needs. As attending school is an essential part of these children's lives, it is important that they use their AAC system to communicate in the classroom. This study aimed to describe the nature of the use of AAC by students with developmental disabilities in the classroom.

    MATERIALS AND METHOD: This study was conducted in Malaysia. Six students were observed twice each in their classroom and their classroom interactions were video recorded. The video recordings were transcribed and coded for the presence of a communication event, the student's mode of communication and communication function, the communication partner involved, and access to the AAC system.

    RESULTS: Contrary to past studies, most students in this study spontaneously initiated interaction almost as many times as they responded. They primarily communicated with gestures and verbalizations/vocalizations despite having been introduced to an AAC system. When students communicated using their AAC system, they mainly interacted with the teachers, and for the function of either behavioral regulation or joint attention. It was found that for 39% of communicative events, the student's aided AAC system was not within arm's reach.

    CONCLUSION: The findings highlight the need for efforts to encourage students with complex communication needs to use AAC more frequently in their classroom to be able to communicate more effectively and for a wider range of communicative functions. Speech-language pathologists can work closely with teachers to provide the necessary support to these students.

    Matched MeSH terms: Developmental Disabilities
  14. 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: Developmental Disabilities/psychology*
  15. Osada H, Coelho de Amorim A, Velosa A, Wan WP, Lotrakul P, Hara H
    Int J Soc Psychiatry, 2013 Jun;59(4):398-400.
    PMID: 22408120 DOI: 10.1177/0020764012438477
    Compared with US or European countries, there are fewer mental health services for mothers of children with developmental disabilities in Latin American and/or Southeast Asian countries.
    Matched MeSH terms: Developmental Disabilities/psychology*
  16. Joginder Singh S, Hussein NH, Mustaffa Kamal R, Hassan FH
    Augment Altern Commun, 2017 Jun;33(2):110-120.
    PMID: 28387140 DOI: 10.1080/07434618.2017.1309457
    Parents play an important role in the successful implementation of AAC. Previous research has indicated that parents in different countries have varying perceptions about the use of AAC and face different challenges in its implementation. To date, there is limited information about the use of AAC by children in Malaysia or parents' views about its use. The aim of this study was to explore Malaysian parents' perception of AAC and their experience when supporting their children who use AAC. For this study, 12 parents of children with autism spectrum disorder and cerebral palsy were involved in semi-structured individual interviews. Qualitative content analysis was used to analyze interview data. Following analysis, three themes were identified: (a) impact of the use of AAC, (b) challenges faced, and (c) hopes and expectations. Participants reported that the use of AAC had a positive impact on their children, but that they faced challenges related to the child, the settings, and the system itself, as well as a lack of time and support. Findings from this study provide an insight for Malaysian speech therapists about the challenges faced by parents when supporting their children who use AAC, and how important it is to overcome these challenges to ensure successful implementation of AAC.
    Matched MeSH terms: Developmental Disabilities/rehabilitation*
  17. Toh TH, Lim BC, Bujang MAB, Haniff J, Wong SC, Abdullah MR
    Pediatr Int, 2017 Aug;59(8):861-868.
    PMID: 28510345 DOI: 10.1111/ped.13325
    BACKGROUND: We examined the parental perception and accuracy of the Mandarin translation of the Parents' Evaluation of Developmental Status, a screening questionnaire for parent concerns about children's various developmental skills.

    METHODS: The questionnaire was translated into Mandarin. Upon enrollment, caregivers completed the Mandarin PEDS and answered four questions about its acceptability and usefulness, and its ease of understanding and completion. The Mandarin PEDS was independently evaluated by a pediatrician and a community nurse, and classified as high risk (≥two predictive concerns), medium risk (one predictive concern), low risk (any non-predictive concerns) or no risk (if no concern) for developmental delays. The caregivers repeated Mandarin PEDS at a 2 week interval for test-retest reliability, while the children underwent testing for accuracy using a developmental assessment test.

    RESULTS: The majority (≥85%) of the 73 caregivers perceived the Mandarin PEDS as acceptable and useful, as well as easy to understand and complete. Fifteen (20.5%) and 24 responses (33.9%) were classified as high and moderate risk, respectively. The test-retest and inter-rater reliabilities were excellent, with an intra-class correlation coefficient of 0.812 (95% CI: 0.701-0.881, P 

    Matched MeSH terms: Developmental Disabilities/diagnosis*
  18. Ramli N, Yap A, Muridan R, Seow P, Rahmat K, Fong CY, et al.
    Clin Radiol, 2020 01;75(1):77.e15-77.e22.
    PMID: 31668796 DOI: 10.1016/j.crad.2019.09.134
    AIM: To evaluate the microstructural abnormalities of the white matter tracts (WMT) using diffusion tensor imaging (DTI) in children with global developmental delay (GDD).

    MATERIALS AND METHODS: Sixteen children with GDD underwent magnetic resonance imaging (MRI) and cross-sectional DTI. Formal developmental assessment of all GDD patients was performed using the Mullen Scales of Early Learning. An automated processing pipeline for the WMT assessment was implemented. The DTI-derived metrics of the children with GDD were compared to healthy children with normal development (ND).

    RESULTS: Only two out of the 17 WMT demonstrated significant differences (p<0.05) in DTI parameters between the GDD and ND group. In the uncinate fasciculus (UF), the GDD group had lower mean values for fractional anisotropy (FA; 0.40 versus 0.44), higher values for mean diffusivity (0.96 versus 0.91×10-3 mm2/s) and radial diffusivity (0.75 versus 0.68×10-3 mm2/s) compared to the ND group. In the superior cerebellar peduncle (SCP), mean FA values were lower for the GDD group (0.38 versus 0.40). Normal myelination pattern of DTI parameters was deviated against age for GDD group for UF and SCP.

    CONCLUSION: The UF and SCP WMT showed microstructural changes suggestive of compromised white matter maturation in children with GDD. The DTI metrics have potential as imaging markers for inadequate white matter maturation in GDD children.

    Matched MeSH terms: Developmental Disabilities/physiopathology*
  19. Sakamoto M, Kouhei D, Haniffa M, Silva S, Troncoso M, Santander P, et al.
    J Hum Genet, 2020 Sep;65(9):751-757.
    PMID: 32405030 DOI: 10.1038/s10038-020-0765-3
    Inborn errors of metabolism can cause epileptic encephalopathies. Biallelic loss-of-function variants in the ITPA gene, encoding inosine triphosphate pyrophosphatase (ITPase), have been reported in epileptic encephalopathies with lack of myelination of the posterior limb of the internal capsule, brainstem tracts, and tracts to the primary visual and motor cortices (MIM:616647). ITPase plays an important role in purine metabolism. In this study, we identified two novel homozygous ITPA variants, c.264-1 G > A and c.489-1 G > A, in two unrelated consanguineous families. The probands had epilepsy, microcephaly with characteristic magnetic resonance imaging findings (T2 hyperintensity signals in the pyramidal tracts of the internal capsule, delayed myelination, and thin corpus callosum), hypotonia, and developmental delay; both died in early infancy. Our report expands the knowledge of clinical consequences of biallelic ITPA variants.
    Matched MeSH terms: Developmental Disabilities/complications; Developmental Disabilities/enzymology; Developmental Disabilities/genetics*; Developmental Disabilities/mortality
  20. Clark M, Brown R, Karrapaya R
    J Intellect Disabil Res, 2012 Jan;56(1):45-60.
    PMID: 21435066 DOI: 10.1111/j.1365-2788.2011.01408.x
    While there is a growing body of literature in the quality of life of families that include children with disabilities, the majority of research has been conducted in western countries. The present study provides an initial exploration of the quality of life of Malaysian families that include children with developmental/intellectual disabilities. Dynamics characterising Malaysian society are described as developments in social policy and service delivery that support persons with disabilities and their families.
    Matched MeSH terms: Developmental Disabilities/nursing*; Developmental Disabilities/psychology
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