RESEARCH DESIGN AND METHODS: 71 children with diabetes mellitus (43 diagnosed before 6 months of age, and 28 diagnosed between 6 months and 3 years of age who were negative for diabetes-associated autoantibodies) underwent genetic testing with a combination strategy of Sanger sequencing, chromosome microarray analysis and whole exome sequencing. They were categorized into four groups according to the age of onset of diabetes (at or less than 6 months, 6 to 12 months, 1 to 2 years, 2 to 3 years) to investigate the correlation between genotype and phenotype.
RESULTS: Genetic abnormalities were identified in 39 of 71 patients (54.93%), namely KCNJ11 (22), ABCC8 (3), GCK (3), INS (3), BSCL2 (1) and chromosome abnormalities (7). The majority (81.40%, 35/43) of neonatal diabetes diagnosed less than 6 months of age and 33.33% (3/9) of infantile cases diagnosed between 6 and 12 months of age had a genetic cause identified. Only 11.11% (1/9) of cases diagnosed between 2 and 3 years of age were found to have a genetic cause, and none of the 10 patients diagnosed between 1 and 2 years had a positive result in the genetic analysis. Vast majority or 90.48% (19/21) of patients with KCNJ11 (19) or ABCC8 (2) variants had successful switch trial from insulin to oral sulfonylurea.
CONCLUSIONS: This study suggests that genetic testing should be given priority in diabetes cases diagnosed before 6 months of age, as well as those diagnosed between 6 and 12 months of age who were negative for diabetes-associated autoantibodies. This study also indicates significant impact on therapy with genetic cause confirmation.
METHODS: This was a cross-sectional study. A total of 92 preschool children (4-6 years) were invited to participate with their parents/guardians. Nine parameters of toothbrushing behaviour were assessed from parental responses (questionnaire) and observation of child and parents/guardians (video recording). Oral examination included recording plaque, gingival and dental caries indices. BORIS software was used to assess toothbrushing parameters and Smart PLS was used to perform association with a second-generation multivariate analysis to create models with and without confounding factors.
RESULTS: Girls were slightly more (53%) than boys (47%). Children aged 4 years were slightly more in number (38%), followed by 6-year-olds and 5-year-olds. Nearly, 90% parents had tertiary education and 46% had more than 2 children. Differences were recorded in the reported and observed behaviour. Thirty-five percent parents/guardians reported using pea-size toothpaste amount but only 28% were observed. Forty percent reported to brush for 30 s-1 min, however 51% were observed to brush for 1-2 min. Half the children were observed to use fluoridated toothpaste (F preschool children.
CONCLUSIONS: Preschool children's toothbrushing behaviour was inadequate while their oral health was poor, with a significant association between the two parameters.
OBJECTIVE: To assess the auditory outcome of paediatric bilateral cochlear implant in Universiti Kebangsaan Malaysia.
MATERIALS AND METHODS: This was a cross-sectional and descriptive study single centre analysis. Categories of Auditory Performance (CAP-II) scale and Speech, Spatial and Qualities (SSQ) of Hearing questionnaire were used.
RESULTS: Forty-six patients were recruited. Majority of the children (30.4%) rated 7 and 23.9% scored perfectly (9) based on the CAP-II Scale. The least performing children were rated 5 (average). Children that were implanted sequentially within 24 months showed median CAP-II scale of 7. No significant correlation seen between CAP-II and the duration interval, use and age of 1st CI (p > .05). The speech domain of SSQ-P scale showed median value of 8 indicating good speech understanding. The spatial hearing domain had median value of 7, quality of hearing domain had median of 8. Significant correlation seen in hearing in noise with the duration of use of CI (p