RESUMO
Objectives: This study intended to assess the level of awareness and attitude toward otitis externa (OE) and specific limitations that counter the attempts to uplift the understanding and notion related to OE among the general population of Saudi Arabia. Methods: A cross-sectional quantitative study using a questionnaire was done via Google Forms between May 2023 and July 2023. The scoring method was used to determine the participant's awareness or attitude; participants who scored >50% were considered aware or to have a good attitude. Results: Approximately 52.2% had a good attitude toward the OE, and majority were willing to visit healthcare professionals (81%) to provide care and receive proper education during office visits (80.1%). Of all the participants, 69%, 33.4%, and 30.8% suggested that a lack of awareness, cost, and health insurance, respectively, might prevent patients from seeking a healthcare professional. Only 10.9% of participants demonstrated good awareness (score >13) of outer ear inflammation. Conclusion: The findings indicate a poor level of awareness regarding OE, and a positive attitude toward seeking healthcare, with the majority recommending professional visits and relying on healthcare professionals for information.
RESUMO
Spastic paraplegia and psychomotor retardation with or without seizures (SPPRS) is a rare neurodevelopmental disorder associated with autosomal recessive mutations in the HACE1 gene. This case report presents the clinical features and genetic analysis of an 11-month-old girl and her sister with SPPRS, making it the third reported case in the Middle East and the second in Saudi Arabia. The patient exhibited hypotonia, global developmental delay, speech delay, swallowing difficulties, and recurrent respiratory infections. A homozygous pathogenic variant in the HACE1 gene (p.R664*) was identified through genetic analysis, confirming the diagnosis of SPPRS. This case report emphasizes the importance of considering variations in clinical presentation, especially in rare disorders where only a few cases are reported. Further research and case studies are needed to better understand the complete phenotypic spectrum of SPPRS and its complications.