Medicine
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This repository contains the published and unpublished research of the Faculty of Medicine by the staff members of the faculty
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Item Telehealth services for children with neuro-developmental disabilities in the Asia-Pacific region: A systematic review(Oxford, 2024) Devagiri, B.; Ariyasena, A.D.K.; Siriwardhana, D.D.; Sumanasena, S.BACKGROUND: In recent years telehealth became a popular and a rational health service delivery approach, especially amidst multiple challenges posed while providing health care interventions during the COVID-19 pandemic. AIM: We synthesized available evidence on telehealth for managing children with NDDs in the Asia-Pacific region with the aim of identifying successful methods. METHODOLOGY: We systematically reviewed six electronic databases: MEDLINE, AMED, EMBASE, PsychInfo, Web of Science, and (CINAHL plus) using the keywords and database-specific subject headings from their inception to 25th August 2021. Review findings were synthesized narratively, and harvest plots were used to demonstrate the effect of interventions. The protocol and reporting the findings of this review adhered to PRISMA 2020 guidelines. PROSPERO registration: CRD 340690. RESULTS: We harvested 30,823 records; 17,563 duplicates were removed, and 196 full-text articles were assessed for eligibility. 16 studies with multiple research designs were included in the review. Eight were from the Pacific region and eight represented Asia. The interventions targeted families and children with a variety of NDDs (autism spectrum disorder, Down syndrome, cleft lip and palate, hearing impairment, cerebral palsy etc.) via telehealth. Telehealth packages consisted of direct and indirect methods of synchronous, asynchronous, and hybrid approaches. All studies used parent-led intervention strategies. Telehealth reported a positive effect in 7/16 studies while five showed a neutral effect. CONCLUSIONS: According to published evidence telehealth for children with NDDs is an evolving, evidence-based service facilitation modality in the Asia-Pacific region, with only a few published randomized controlled trials. The systematic review shows promising telehealth practices emerging across the region despite the diversity in NDDs studied.Item Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: further delineation and review(Wiley-Blackwell, 2009) Vilain, C.; Mortier, G.; Van, G. V.; Dubourg, C.; Heinrichs, C.; de Silva, D.; Verloes, C. B.We report on five male subjects with a triad of signs compatible with Hartsfield syndrome: ectrodactyly, holoprosencephaly, and mental retardation. Only six patients with this distinctive association have been reported over the past 20 years, all of them being males. Of the patients described here, some have unreported findings such as vermian hypoplasia in one and prolonged survival into adulthood in two. Two patients developed central diabetes insipidus. All were mentally retarded. No abnormalities were found at the cytogenetic level, including array CGH in two. No known genes for holoprosencephaly or ectrodactyly were found, including GLI2. The cause of Hartsfield syndrome is unknown. An X-linked defect is possible, although no recurrences have been described to date. Our observations almost double the number of cases. They underscore the usefulness of fetal brain imaging in the differential diagnosis of syndromal clefting diagnosed in utero, particularly when ectrodactyly-ectodermal dysplasia-clefting syndrome is suspected.