Purpose
Osteogenesis imperfecta (OI) is a rare inherited heterogeneous connective tissue disorder characterized by bone fragility, low bone mineral density, skeletal deformity and blue sclera. The dominantly inherited forms of OI are predominantly caused by mutations in either the COL1A1 or COL1A2 gene. Collagen type I is one of the major structural proteins of the eyes and therefore is the eye theoretically prone to alterations in OI. The aim of this systematic review was to provide an overview of the known ocular problems reported in OI.
Methods
A literature search (in PubMed, Embase and Scopus), which included articles from inception to August 2020, was performed in accordance with the PRISMA guidelines.
Results
The results of this current review show that almost every component of the eye could be affected in OI. Decreased thickness of the cornea and sclera is an important factor causing eye problems in patients with OI such as blue sclera. Findings that stand out are ruptures, lacerations and other eye problems that occur after minor trauma, as well as complications from standard surgical procedures.
Discussion
Alterations in collagen type I affect multiple structural components of the eye. It is recommended that OI patients wear protective glasses against accidental eye trauma. Furthermore, when surgery is required, it should be approached with caution. The prevalence of eye problems in different types of OI is still unknown. Additional research is required to obtain a better understanding of the ocular defects that may occur in OI patients and the underlying pathology.
Sleep is essential for maintenance and restoration of health, yet studies exploring this in hospitalized children are scarce. In a qualitative study, we assessed the perceived quality of sleep, factors affecting sleep, and the role of health care professionals in the sleep environment for hospitalized children aged 1 to 12 years. Data were obtained from 11 semi-structured, audio-recorded, and verbatim-transcribed interviews with parents, and analyzed using a systematic thematic analysis. The interviews were coded based on iterative assessment of transcripts. Subsequently, categories and interpretative main themes were identified. Four themes emerged: (1) being informed, keeping informed; (2) coordination of care; (3) parents as main advocates for their child’s sleep; and (4) environmental disturbers. Parents reported differences in their child’s sleep quality during hospital compared with home. Sleep is substantially affected during hospitalization, prompting the need for interventions to improve the quality of sleep of children. Parents provided valuable suggestions for improvements.
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