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  1. 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*
  2. 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
  3. Tsuchida N, Hamada K, Shiina M, Kato M, Kobayashi Y, Tohyama J, et al.
    Clin Genet, 2018 12;94(6):538-547.
    PMID: 30280376 DOI: 10.1111/cge.13454
    N-methyl-d-aspartate (NMDA) receptors are glutamate-activated ion channels that are widely distributed in the central nervous system and essential for brain development and function. Dysfunction of NMDA receptors has been associated with various neurodevelopmental disorders. Recently, a de novo recurrent GRIN2D missense variant was found in two unrelated patients with developmental and epileptic encephalopathy. In this study, we identified by whole exome sequencing novel heterozygous GRIN2D missense variants in three unrelated patients with severe developmental delay and intractable epilepsy. All altered residues were highly conserved across vertebrates and among the four GluN2 subunits. Structural consideration indicated that all three variants are probably to impair GluN2D function, either by affecting intersubunit interaction or altering channel gating activity. We assessed the clinical features of our three cases and compared them to those of the two previously reported GRIN2D variant cases, and found that they all show similar clinical features. This study provides further evidence of GRIN2D variants being causal for epilepsy. Genetic diagnosis for GluN2-related disorders may be clinically useful when considering drug therapy targeting NMDA receptors.
    Matched MeSH terms: Developmental Disabilities/diagnosis*
  4. 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*
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