Expanding the phenotype in Pitt-Hopkins syndrome; description of new oral finding and dental management considerations.

BACKGROUND: Pitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder with physical, cognitive, and behavioral characteristics that is caused by heterozygous mutations in the TCF4 gene. Patients with PTHS might present a unique challenge for oral healthcare professionals because of the associated comorbidities. CASE REPORT: Here we describe a new case of PTHS in a 13-year-old girl with particular emphasis on oro-dental findings and oral healthcare management. Observed oro-dental findings in our case included shallow palate, absence of lingual frenum, gingival enlargement, thick lips and relative microdontia. The patient was unable to tolerate dental care under local anesthesia. Therefore, comprehensive dental treatment was performed under general anesthesia after a careful pre-anesthetic cardio-respiratory, neurological, and hematological evaluation. The patient was closely monitored intra-operatively for breathing rhythm, O2 saturation, and signs of respiratory distress. The patient was observed for 24 h post-op for respiratory distress and was discharged then uneventfully. CONCLUSION: Dental treatment under general anesthesia in these patients might be complicated by the abnormal breathing rhythm, and close monitoring and follow up for signs of respiratory distress after general anesthesia is necessary. Recognition of oral and dental findings might help to expand the phenotype and better characterize rare syndromes.

How good is ChatGPT at answering patients' questions related to early detection of oral (mouth) cancer?

OBJECTIVES: To examine the quality, reliability, readability, and usefulness of ChatGPT in promoting oral cancer early detection. STUDY DESIGN: About 108 patient-oriented questions about oral cancer early detection were compiled from expert panels, professional societies, and web-based tools. Questions were categorized into 4 topic domains and ChatGPT 3.5 was asked each question independently. ChatGPT answers were evaluated regarding quality, readability, actionability, and usefulness using. Two experienced reviewers independently assessed each response. RESULTS: Questions related to clinical appearance constituted 36.1% (n = 39) of the total questions. ChatGPT provided "very useful" responses to the majority of questions (75%; n = 81). The mean Global Quality Score was 4.24 ± 1.3 of 5. The mean reliability score was 23.17 ± 9.87 of 25. The mean understandability score was 76.6% ± 25.9% of 100, while the mean actionability score was 47.3% ± 18.9% of 100. The mean FKS reading ease score was 38.4% ± 29.9%, while the mean SMOG index readability score was 11.65 ± 8.4. No misleading information was identified among ChatGPT responses. CONCLUSION: ChatGPT is an attractive and potentially useful resource for informing patients about early detection of oral cancer. Nevertheless, concerns do exist about readability and actionability of the offered information.

The oral phenotype and dental management in patients with maple syrup urine disease; case report and scoping review.

BACKGROUND AND OBJECTIVES: The literature about oral manifestations and dental management in maple syrup urine disease (MSUD) is sparse. The aim of this report is to present a new case of MSUD with special emphasis on oral findings and to review the relevant literature. METHOD: A case report of a 4-year-old boy with MSUD was described according to the CARE guidelines for describing case reports. Scoping review of relevant literature was performed, according to the PRISMA-ScR guidelines, by searching PubMed, Medline, Embase, and the grey literature for articles describing dental management and/or oral manifestations in MSUD. RESULTS: The initial search identified 219 articles, but only 4 met the inclusion criteria. Rampant caries and plaque induced gingivitis were the main oro-dental findings in MSUD. Other oral findings included enamel hypoplasia, skeletal abnormalities, and abnormal oral behaviors. Disease-related factors appeared to play a major role in the development of the observed oral phenotype. CONCLUSION: Oral health in MSUD seems to be influenced by the reliance on semi-synthetic diet and associated neurocognitive complications. Tailored oral health promotional interventions should be included in the multidisciplinary management of patients with MSUD.

Content analysis of oral (mouth) cancer-related posts on Instagram.

OBJECTIVE: To examine the content of Instagram posts about oral cancer and assess its usefulness in promoting oral cancer awareness and early detection practices. METHODS: A systematic search of Instagram for posts about oral (mouth) cancer was conducted using the hashtags #oral cancer and #mouth cancer. Posts usefulness in promoting awareness and early detection was assessed using the early detection usefulness score, and caption readability was assessed using the Flesch Kincaid readability score. RESULTS: A total of 81,000 posts were identified, and 200 posts were thoroughly evaluated. Included posts gathered a total of 48,118 (mean = 420.59 likes) and 27,898 views. Most posts (81.5%) were educational to the lay person, and India and the UK were the major contributors. The most discussed topics were prevention and early detection (55%). Representative clinical images were present in 35.5% of posts. Only 9.5% of posts mentioned the source of information, and the mean usefulness score was only 2.1 out of 10. The mean reading ease score was 56.7 ± 43.8 (range from 1 to 98 out of 100). CONCLUSION: Instagram shows potential for promoting oral cancer awareness, particularly in prevention and early detection. However, concerns regarding content quality, scientific validity, and clarity persist.

Management of auto-immune blistering disease in an older patient with severe intellectual disability.

Management of chronic oral mucosal diseases might be challenging in older individuals with intellectual disability because of associated comorbidities, variable clinical presentations, and various barriers imposed by the intellectual disability. This report describes the presentation and management of pemphigus vulgaris in an older female with severe intellectual disability.

Oral findings and healthcare management in Shashi-Pena syndrome.

Shashi Pena syndrome (SHAPNS) is a newly recognized and rare neurodevelopmental disorder with unique phenotypic features. The syndrome is caused by truncating variants in ASXL2 gene. To date, there are only seven documented cases in scientific literature, but oral and dental findings are sparsely reported. Here, we present a new case of SHAPNS and describe the oro-dental findings and oral healthcare management of affected patients.