In the second phase, axial coding, terms were identified, and relevant categories established. Transcripts were relistened and reread and open codes were assigned. In the first phase, open coding was used to familiarize and manage the data. KeywordsÄata was analyzed via inductive coding and consisted of three phases to indicate common themes among interviews. To conclude, early-onset cataract is a warning sign and ophthalmologists play a crucial role in the early detection of myotonic dystrophy type 1 by recognizing this symptom and preventing the birth of severely affected children leading to emotional and psychosocial consequences. The diagnostic delay had severe hereditary consequences: a subsequent generation with more severely affected (grand)children was born resulting in large emotional burden for the patients. Prior to the early-onset cataract, all participants experienced other multisystem symptoms that could have been explained by myotonic dystrophy. A qualitative study with semi-structured interviews was performed with purposive sampling of eight participants with myotonic dystrophy type 1 and early-onset cataract to investigate the physical and psychosocial consequences experienced due to diagnostic delay. Due to its multicausal nature, early-onset cataract is often not recognized as a feature of this disease, leading to diagnostic delay resulting in consequences for successive generations, treatment and counseling. Early-onset cataract is a common initial manifestation of the late or adult-onset type of myotonic dystrophy 1. Anticipation leads to an earlier and more severe phenotype in subsequent generations. Myotonic dystrophy type 1 is a neuromuscular disorder affecting multiple organ systems and is characterized by a variety of clinical presentations.
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