Speech Difficulties Research Articles

A Survey of 251 Facial Paralysis Patients to Assess Their Educational Preparedness and Symptom Management after Treatment of Vestibular Schwannoma

Abstract Objective The aim of this study was to evaluate how patients with vestibular schwannoma (VS) were prepared for facial paralysis (FP). Study Design This study comprised an online survey of members of the Acoustic Neuroma Association of America who had FP. Methods A 28-question survey gathering information on the patient experience related to management of FP was created. Associations between treatment setting and presence of FP were analyzed using SAS Enterprise Guide 8.4. Significance was considered at p-values < 0.05 in a univariate and multivariable model. Results A total of 251 subjects with VS and FP responded. A total of 14% presented with FP, 70% were diagnosed with VS at least 6 months prior to treatment, and 61% were treated at academic centers. A total of 28% felt prepared for life with FP and 42% were confident their medical team understood management. Less than 30% of respondents received educational materials. After developing FP, speech and swallow difficulty and anxiety were common, but few respondents were referred for expert management. Subjects at academic centers were more often referred to specialists in the same location. Those with preoperative FP felt their medical teams better prepared them for it, had fewer complaints of difficulty speaking, and were happier with their recovery. Conclusion Significant gaps in preparation and management of FP were identified. Preoperative FP led to improved perception of care; however, the delivery was similar to those without it. Studies of surgeons who manage VS are needed to better understand how they prepare patients for the emotional and physical sequelae of FP.

A Scoping Review of Intervention Outcomes for School Students With Communication Difficulties.

For speech-language pathologists (SLPs) working in schools, outcome measurement is an important element of practice, enabling us to evaluate the efficacy of our service provision and guiding future decision making, funding, and resource allocation. When selecting outcomes to measure, it is helpful to consider both the level at which change may be occurring and the extent or impact of that change. The primary aim of this review was to identify the outcomes measured in intervention studies for school-aged children with speech, language, and communication difficulties (SLCD) using the International Classification of Functioning, Disability and Health to classify the outcomes. A second aim was to identify tools used in research studies to measure the outcomes. A systematic search of five databases was undertaken to identify papers reporting outcomes for school students who had received intervention targeting SLCD. Articles written in English and published between January 2000 and August 2021 were included. The Taxonomy for Categorizing Outcome Measures for SLCD was created to enable a review of outcomes and measurement tools. There were 125 papers included in the final review. Most papers (n = 109, 87.2%) reported on studies that included outcome measures that captured changes at Body Function level, while approximately half captured Activity-level change. Only 24 (19.2%) explored changes at Participation level. Change at the Body Function or Activity levels does not always reflect change at the Participation level. Measuring outcomes at the Participation level enables SLPs to determine the real-world impact of the adjustments they have recommended or the intervention they have provided. However, in order to measure outcomes at the Participation level, we need the tools for capturing those changes for school-aged students with SLCD.

Are Speech Sound Difficulties Risk Factors for Difficulties in Language and Reading Skills? A Systematic Review and Meta-Analysis.

Children with speech sound difficulties often require educational psychology services, yet systematic reviews examining the association between these difficulties and language or reading problems are lacking. This meta-analysis examines whether these children are at higher risk of language and reading difficulties compared to their peers. The study analyzed 290 effect sizes from cross-sectional and longitudinal studies that compared language and reading skills between children with speech sound difficulties and controls. Additionally, we evaluated 37 effect sizes from correlational studies in general populations to examine the relationship between speech sound skills and language or reading skills. Children with speech sound difficulties showed significant concurrent language (Hedges' g = -0.60) and reading (Hedges' g = -0.58) problems. Correlational studies also demonstrated a relationship between speech sound skills and language (r = .23) and reading (r = .23) skills. Phonological awareness and study quality were significant moderators. Longitudinal studies showed persistent or increasing group differences over time in language (Hedges' g = -0.85) and reading (Hedges' g = -0.50). These findings were consistent regardless of the severity or types of speech sound difficulties, nonverbal IQ, country, age, and publication year. However, a precision-effect test and the precision-effect estimate with standard errors analysis suggested a potential decrease in effect size due to publication bias from small sample sizes in primary studies. Children with speech sound difficulties are at an increased risk of language and reading difficulties, emphasizing the need for broader language assessments and early interventions to mitigate future academic difficulties. https://doi.org/10.23641/asha.27849828.

Efficacy of Resorbable versus Non Eugenol Packs in Enhancing Early Wound Healing following Gingival Excisional Procedures: A Randomised Controlled Study

Introduction: Conventionally, the raw wound after gingival excision is protected with non eugenol periodontal pack, in order to alleviate pain and preserve healing tissue which includes some potential disadvantages such as patient intolerance, pack loosening, speech difficulties and plaque accumulation. Aim: To clinically evaluate wound healing following the use of a resorbable periodontal dressing following gingival excisional procedures and to compare the outcomes with the conventional COE-PAKTM periodontal dressing. Materials and Methods: A randomised controlled trial was conducted in the Department of Periodontology, SRM Dental College, Chennai, Tamil Nadu, India from June 2022 to March 2023. Patients requiring gingival excision for gingival pigmentation, gummy smile correction and crown lengthening were included in this study, 36 patients in control group were treated with Laser assisted surgery followed by conventional COE-PAKTM and 36 patients in test group were treated with Laser assisted surgery protected with resorbable pack (RESOPAC®). Wound healing scores (Landry’s scale) and patient comfort assessment {Visual Analogue Score (VAS)} was recorded at 7, 14 days following therapy. Data were analysed with IBM Statistical Packages for Social Sciences (SPSS) software 17.0 version using Independent t-test with level of significance 5%. Results: A total of 72 patients (38 males and 34 females) with a mean age range of 32.6 years were randomised into two study groups. Following the intervention, two participants in the test group and one subject in the control group could not report for the seven day follow-up and hence, the data of 69 participants, control (n=35) and test (n= 34) was used for final analysis. Both test and control groups showed satisfactory healing. Results in the test group were significantly better with respect to both wound healing and VAS assessment. Statistically significant difference was noted in the Wound Healing Index (WHI), VAS and Pain Intensity (PI) scores at the 7th and 14th day follow-ups (p<0.001). VAS and PI scores at 7th and 14th day (p<0.001). No of analgesics consumed during the first week were also significantly higher in the control group as compared to the test group (p<0.001**). Conclusion: RESO-PAC®, resorbable pack aided in wound healing following gingival excision and improved patient comfort during the initial healing phase. To add on the patients in the test group reported better compliance to the resorbable dressing and reported no adverse effects. Resorbable dressings could possibly facilitate secondary wound healing following surgical excision of gingiva.

Management of the Maxillary Labial Frenum

This study examined the maxillary labial frenum (MLF) and its clinical implications, focusing on its anatomy, developmental changes, and management strategies. The MLF functions as a connective tissue linking the upper lip to the alveolar ridge, facilitating essential processes such as speech production, food consumption, and the maintenance of proper dental alignment. Abnormal development or attachment can result in midline diastema, speech difficulties, and breastfeeding challenges. During growth, the MLF typically migrates from the alveolar crest in infancy to the mucogingival junction by adulthood; however, in some cases, this migration fails, leading to persistent diastema or other oral health concerns. The timing of frenectomy remains unclear. Certain experts advocate for early intervention to facilitate orthodontic treatment, while others recommend postponing surgical procedures until orthodontic efforts are completed, as the majority of diastemas close naturally with the eruption of permanent canines. In instances where diastema persists, frenectomy may be necessary to prevent relapse. Restrictive frenum attachments have been linked to breastfeeding difficulties; however, feeding outcomes can also be influenced by factors such as maternal technique and infant feeding patterns. This review highlights the need for individualized assessment and treatment planning, balancing surgical intervention with natural development, to ensure the best outcomes for each patient.

A Comparative Case Study of Maxillary Temporary Dentures Fabricated Using Two Digital Impression Techniques

The loss of multiple teeth can lead to various issues such as impaired oral function, speech difficulties, and aesthetic concerns, significantly reducing a patient's quality of life. Prosthetic treatment is necessary to address these issues, and the specific treatment plan is determined based on the individual patient's condition. Temporary dentures are used to restore oral function and aesthetics until the final prosthesis is completed, helping patients recover from the functional and esthetic changes caused by tooth loss.Advances in digital technology have enabled the use of CAD-CAM in dental treatments, reducing the number of visits and improving the accuracy of denture fabrication. For the fabrication of the temporary denture in this case, impressions were acquired using two methods: intraoral scanning and a conventional impression method followed by model scanning. The teeth were arranged and the denture was designed using CAD software, and then fabricated using a 3D printer. This case report details the process of creating a temporary denture for a completely edentulous patient using digital technology, and the patient achieved a satisfactory functional and aesthetic outcome.

Health Challenges in Conscious Intubated Patients-Concept Review

Patients benefit from maintaining consciousness throughout intubation; but, they may experience a variety of adverse physical and mental consequences, such as pain, dyspnea, and fear, and helplessness, loss of control, speech difficulties, and anxiety. The physical and psychological well-being of cognizant intubated patients is adversely affected by communication difficulties. Health care professionals tackle this matter by utilizing a range of available communication instruments in addition to traditional approaches such as assessing through sign languages and gestures. Enhancing communication between healthcare professionals and conscious intubated patients can be achieved through the use of Augmentative and Alternative Communication (AAC) devices, which are readily available. While there are various communication aids at the disposal of clinical caregivers, they should utilize the most patient-centric communication technologies possible, despite the fact that several alternatives exist.

Early Ischemic Stroke Assessment with ASPECTS: A Case Report Highlighting the Radiologist's Role in a Limited-Resource Setting

Background: Ischemic stroke is a leading cause of morbidity and mortality globally, particularly in resource-limited settings. Non-contrast computed tomography (NCCT) is often the primary imaging modality available in these settings, and the Alberta Stroke Program Early CT Score (ASPECTS) is a crucial tool for assessing early ischemic changes in NCCT. This case report highlights the importance of ASPECTS in guiding clinical decisions and prognostication in a resource-limited setting. Case presentation: A 79-year-old male presented to the emergency unit at Negara General Hospital, a rural facility in Bali, with acute onset of right-sided hemiparesis and speech difficulty. NCCT showed a hypodense lesion with ill-defined margins in the left insular cortex, left caudate nucleus, left internal capsule, and left frontotemporoparietal lobes, consistent with a subacute cerebral infarction in the middle cerebral artery (MCA) territory, with an ASPECTS score of 2. Due to the extensive ischemic burden and the limited availability of advanced treatment options, conservative management was chosen. The radiologist's interpretation of the ASPECTS score played a critical role in guiding the clinical team's decision-making and informing the patient's family about the prognosis. Conclusion: ASPECTS is an essential tool for predicting stroke outcomes, with lower scores correlating with larger infarct volumes and poorer prognoses. In resource-limited settings, radiologists play a vital role in interpreting ASPECTS scores to guide clinical management and provide accurate prognostic information to patients and their families.

SURG-02. ANAPLASTIC PLEOMORPHIC XANTHOASTROCYTOMA WITH LEPTOMENINGEAL DISSEMINATION PRESENTING WITH CRANIAL NEUROPATHY IN AN ADULT PATIENT: ILLUSTRATIVE CASE AND REVIEW OF THE LITERATURE

Abstract INTRODUCTION Anaplastic pleomorphic xanthoastrocytomas (APXA) are very rare, grade III malignant astrocytic glial neoplasms first described as a distinct entity in the 2016 World Health Organization (WHO) Classification of Tumors of the Central Nervous System (CNS). They are generally seen in pediatric and young adult patients as supratentorial lesions with both solid and cystic components and have a high propensity for recurrence despite local treatment. APXAs occasionally demonstrate leptomeningeal dissemination (LMD) but extremely seldom at the time of diagnosis. They are typically treated via surgical resection with adjuvant chemoradiation, although there is no standard of care for adjuvant therapy. Case Presentation: The authors describe the case of a 37-year-old male with a history of seizures since age 11 who presented with four months of worsening headache, increasingly frequent seizures, and diplopia with right cranial nerve III palsy. Imaging at the time of diagnosis of his seizure disorder as a child demonstrated a small left temporal lesion, which remained stable on imaging for over 20 years and was never biopsied, however MRI at current presentation showed significant interval enlargement with intralesional hemorrhage and leptomeningeal enhancement involving the left temporal and parietal lobes, left internal auditory canal, and right oculomotor nerve. He underwent surgical resection with gross total resection achieved and pathology revealed WHO Grade III pleomorphic xanthoastrocytoma with ATG7::RAF1 fusion, 9p21 deletion, and TERT promoter mutation on next generation sequencing. This was followed by adjuvant whole brain radiation with boost and treatment with MEK inhibitor cobimetinib. His postoperative course was remarkable for intermittent speech difficulty and improving right third nerve palsy. CONCLUSION We describe the unusual presentation of an already exceedingly rare primary CNS tumor, namely APXA in an adult patient with LMD and cranial neuropathy at the time of diagnosis, and detail tailored adjuvant therapy based on genomic profiling.

Exploring lived experiences with tooth loss among fully edentulous patients attending Makerere University Dental Hospital, Kampala, Uganda

BackgroundOne of the most prevalent oral health issues affecting mankind is tooth loss. Besides extractions due to periodontal disease and caries, accidents and lack of dental knowledge can also result in tooth loss. Nevertheless, no known published studies have examined how edentulous patients in Uganda have lived with tooth loss. The objective of the present study was to investigate experiences of tooth loss among Ugandan edentulous patients attending Makerere University Dental Hospital.MethodsThis was a cross-sectional qualitative study using purposive recruitment of respondents. A total of 15 respondents were chosen from a variety of socio-economic groups. Qualitative data were collected using oral interviews in form of note taking and an audio-recorder. The data collected comprised the causes of tooth loss, the physical and psychological effects of losing teeth, the difficulties in managing oral hygiene when one is toothless, coping mechanisms, and supportive interventions after losing natural teeth. The collected data were transcribed and analyzed thematically using a software, Atlas Ti. The generated qualitative data were summarized as text, while demographic characteristics were presented in a table.ResultsOral infections such as periodontal disease (which destroy tooth supporting tissues), tooth decay and trauma from accidents were reportedly the main causes of tooth loss. In case of tooth pain as a first symptom, most patients choose self-medication with over-the-counter drugs and home remedies. They only consult dental professionals when the condition deteriorates. Tooth loss was associated with problems of eating, facial aesthetics and low self-esteem.ConclusionThe present study found that tooth loss was caused by periodontal disease, tooth decay and trauma from accidents. Loss of teeth was escalated by poor health seeking behavior. Tooth loss resulted in pain, eating difficulties, speech difficulties, poor facial appearance and consequently low self-esteem.

WAYS OF IMPROVING FOREIGN LANGUAGE COMMUNICATION DURING STUDENTS' PROFESSIONAL TRAINING

The article examines the issue of developing foreign language communicative competence of students as the primary goal of language learning in the context of professional training of future specialists. It is argued that the most relevant cognitive-linguistic, operational-linguistic and communicative competences for professionally oriented foreign language learning are the ones which enable the use of language as a means of obtaining professionally significant information through reading and participating in oral and written professional communication. The views of domestic and foreign scholars regarding the definition of foreign language communicative competence and its component structure are analyzed. All components of foreign language communicative competence are interrelated and interdependent, forming a complex, holistic, systematic, and structured entity. The process of foreign language learning should be aimed at the gradual cultivation of foreign language communicative competence components, using the most effective teaching forms, methods and tools. The forms, methods and tools for conducting productive classes are highlighted as those focused on activating cognitive activity, developing foreign language communicative competence, overcoming language, speech and socio-cultural communication difficulties. Attention is drawn to the expediency of using innovative teaching methods such as role-playing games, discussions, project-based methods, quests, as they are person-centered and create conditions for the enhancement of students' creative thinking and provide a good opportunity to acquire and apply foreign language knowledge due to the emergence of internal motivation. The research results in the context of future specialists' motivation to master foreign language communication skills and abilities are presented.

Brain abscess caused by Mycobacterium tuberculosis in an immunocompetent patient: a case report and literature review.

Brain abscesses caused by Mycobacterium tuberculosis are rarely reported and are typically found in immunocompromised patients. The challenges in identifying the pathogen and the frequent delays in initiating appropriate therapy often result in a poor prognosis for patients. We herein report a rare case of a brain abscess caused by M. tuberculosis in a 63-year-old patient with a history of hypertension but no history of pulmonary tuberculosis. The patient was hospitalized twice because of worsening right upper limb weakness and speech difficulties. Both a pus culture and cerebrospinal fluid culture were negative. Ultimately, the diagnosis of M. tuberculosis infection was confirmed through next-generation sequencing and the tuberculosis-specific T-cell test (T-SPOT). The patient's symptoms improved following anti-tuberculosis treatment. This case highlights the importance of considering M. tuberculosis as a potential cause of brain abscesses, even in immunocompetent individuals, and underscores the need for early diagnosis for effective treatment.

Speech in noise performance in adults with cochlear implants using a combined channel deactivation strategy with a variable number of dynamic focused channels.

Cochlear implant listeners show difficulties in understanding speech in noise. Channel interactions from activating overlapping neural populations reduce the signal accuracy necessary to interpret complex signals. Optimizing programming strategies based on focused detection thresholds to reduce channel interactions has led to improved performance. In the current study, two previously suggested methods, channel deactivation and focused dynamic tripolar stimulation, were combined to create three cochlear implant programs. Utilizing an automatic channel selection algorithm from focused detection threshold profiles, three programs were created with the same deactivated channels but varying proportions of channels employing focused stimulation, monopolar, dynamic focused and a mixed program. Thirteen ears in eleven adult cochlear implant listeners with Advanced Bionics HiRes90k devices were tested. Vowel identification and sentence perception in quiet and noise served as outcome measures, and the influences of listening experience, age, clinical consonant-nucleus-consonant performance, and perceptual thresholds on speech performance were assessed. Across subjects, different degrees of focusing showed individual performance improvements for vowels and sentences over the monopolar program. However, only slight trends and no significant group improvements were observed. Focused listening benefits were shown for individuals with less cochlear implant experience, and clinically poor performers seem to benefit more from focusing than good performers. The current findings suggest that deactivating and focusing subsets of channels improves speech performance for some individuals, especially poor performers, a possible effect of reduced channel interactions. The findings also show that individual performance is largely variable, possibly due to listening experience, age or the underlying detection threshold.

Implications of Lingual Orthodontics Compared to Conventional Orthodontics.

In orthodontics, the treatment plan and the impact of orthodontic appliances on patients' aesthetic appearance have significantly influenced patients' aesthetic demands over time. Patients considering orthodontic treatment are very concerned about the potential compromise in facial appearance that conventional orthodontic treatment could cause. Lingual orthodontics offers an aesthetically pleasing appearance compared to conventional orthodontic systems, addressing the growing demand for inconspicuous treatment options. This review examines the implications of lingual orthodontics compared to conventional orthodontics, focusing on aesthetics, oral health outcomes, and patient satisfaction. The benefit of lingual brackets is that when positioned on the teeth's lingual surfaces, they are almost undetectable. However, they are associated with increased difficulty in oral hygiene maintenance due to their placement, leading to higher plaque accumulation that causes compromised periodontal health. Conversely, studies show a lower incidence of white spot lesions on lingual surfaces compared to buccal surfaces, suggesting a reduced risk of caries. Challenges with lingual systems include increased tongue discomfort and speech difficulties. Despite these challenges, lingual orthodontics demonstrates favourable outcomes for patients prioritising aesthetics. Future advancements should focus on improving appliance designs to enhance patient comfort and oral hygiene accessibility, ensuring optimal treatment outcomes. Interdisciplinary collaboration and comprehensive oral hygiene education are essential to maximise the benefits of lingual orthodontics.

Follow-up of expressive language and general development at 12, 18 and 36 months for children with no canonical babbling at 10 months

ABSTRACT Little is known about the developmental trajectories in children who do not use canonical babbling (CB) at 10 months. The aim was to examine how speech, language, cognitive and motor abilities developed in children without CB. For 15 children identified as not having CB, consonant production, expressive vocabulary and general development were assessed at 12, 18 and 36 months from audio–video recordings. Twelve (79%) children still lacked CB at 12 months. At 18 months, six (40%) had parent-reported expressive vocabulary results below the 10th percentile, and two (14%) did not use dental/alveolar stops. The percentage of consonants correct for the group was at the level of peers at 36 months (89%, SD 0.17), but the group had fewer established target consonants than age norms. Most children had a small expressive vocabulary in comparison with Swedish age norms for younger children as well as with age-matched norms for other Nordic languages. The general development (Bayley-III) for three children (21%) who did not use speech was 1–2 SD below the average range in at least one domain (cognitive, language or motor), but the results for the whole group were within the average range. In conclusion, the heterogeneity in early consonant development in the study group resembles that of children in clinical groups with known risk for speech and language difficulties and the expressive vocabulary resembles that of children with delayed expressive vocabulary. For about one-fifth of the children, the absence of canonical babbling at age 10 months could be seen as an early sign of a more comprehensive developmental disability.

Comparison of functional impairments and discomfort with bonded labial and lingual orthodontic appliances - a questionnaire survey

ObjectiveTo compare the levels of functional impairments, discomfort and satisfaction experienced by those treated with full-mouth customized lingual appliances (Lingual appliances), full-mouth self-ligating bracket (Labial appliances), or upper lingual and lower labial appliances (Mixed appliances) using questionnaires.Materials and methodsPatients within one year of the end of treatment were included in the survey and given a questionnaire concerning different kinds of discomfort and difficulties during the treatment process. The questionnaires focused on the following aspects including speech difficulty, pain (lip, cheek or tongue), difficulty in chewing, difficulty in tooth brushing and overall aesthetics and comfortability. Ordinary one-way ANOVA Tukey’s multiple comparison tests and Kruskal–Wallis tests were employed to analyze the data.ResultsA total of 115 patients participated in the study. In terms of functional impairments and discomfort, the rate and degree of speech difficulty was significantly higher in the Lingual appliances Group than that in the Labial appliances Group. But there was no difference among the three groups for difficulty in chewing and tooth brushing. Both lingual and labial appliances caused a similar level of overall pain, however, those treated with lingual appliances experienced more tongue pain, and those treated with labial appliances experienced more cheek and lip pain. The most common sites of irritation were the tongue lateral and tongue tip in the Lingual appliances Group, tongue lateral and cheek in the Mixed appliances Group, and cheek and lower lip in the Labial appliances Group. In total, patients gave highest scores to mixed appliances for comfortability and lowest scores to labial appliances for aesthetics when it came to satisfaction.ConclusionsLingual and labial appliances caused similar level of overall pain. Taking into account the overall comfortability, aesthetics and cost, the mixed appliances may be suitable for some patients who have aesthetic and comfort pursuits.

Perda precoce dos elementos 11 e 12 por trauma dental, com intervenção ortodôntica preventiva na odontopediatria: relato de caso

Dental trauma is one that affects the hard tissues embraced, supporting structures or soft tissues in the oral cavity. It is observed more frequently in male children of school age (07 to 12 years old). The most affected teeth in the trauma taken are central and lateral incisors. With regard to tooth avulsions, the protection of children's bone tissue favors a higher frequency in this population than in the adult population. Dental avulsion occurs after displacement of the element out of its alveolus. There is a break in the blood supply to the pulp of the tooth and when this happens the chance of replantation achieved is totally impossible. Thus bringing several harms to the patient such as difficulty in speech, poor aesthetics, or even mesialize or distalize some other acquired element. Space maintainers are used as removable or fixed appliances to treat malocclusion or esthetic defects. They are braces made of acrylics with two extended teeth. Choosing a removable appliance comes with benefits such as better hygiene, satisfactory aesthetics, low cost, and maintenance of the cervico-occlusal space, in addition to the mesio-distal space. The objective of this study was to report a clinical case of avulsion of element 11 and 12 caused by trauma in childhood with the use of a space maintainer. We conclude that it is possible to treat a patient with dentoalveolar trauma with intervention using a space maintainer, since in the present case success was obtained in the selection of therapy, restoring aesthetics and function to the patient. Thus reducing possible orthodontic problems of the child, with follow-up until his/her old age.

Clinical whole Exome Sequencing Reveals Novel Homozygous Missense Variant in the PMPCA Gene causing Autosomal Recessive Spinocerebellar Ataxia.

Autosomal recessive cerebellar ataxias (ARCA) are rare heterogenous neurodegenerative disorders characterized by degeneration of the cerebellum and spinal cord with an early onset before the age of 20 years. PMPCA (MIM: 613036), is a key enzyme in mitochondrial protein processing which is critical for cell survival and growth. Our objective was to investigate Peptidase, Mitochondrial Processing Subunit Alpha (PMPCA) mutations linked with Spinocerebellar ataxia, autosomal recessive 2 (SCAR2). In the current study, Whole Exome Sequencing (WES) was done followed by Sanger sequencing for the validation of the WES results. WES results identified a novel homozygous variant, NM_015160.2: c.802C>T p.(Arg268Trp) in PMPCA gene. Mutation in this gene leads to progressive cerebellar ataxia with fine motor skills difficulties, intentional tremors, slow slurred speech and learning difficulties in a 12-year-old Saudi patient. WES results were further validated by Sanger sequencing technique. Identified phenotype in our case was similar as previously described for SCAR2 related conditions. To our knowledge, this is the first reported mutation in PMPCA gene leading to SCAR2 in Saudi Arabia. These findings will enrich the scarce literature, further provide a new insight on the role of PMPCA gene-related disorders leading to SCAR2 and expand the disease concept. In addition, this will help to establish a database for the disease and its causative factors will further help in controlling diseases resulting from consanguinity in Saudi population.

Somatic and mental symptoms associated with dysglycaemia, diabetes-related complications and mental conditions in people with diabetes: Assessments in daily life using continuous glucose monitoring and ecological momentary assessment.

To analyse the potential drivers (glucose level, complications, diabetes type, gender, age and mental health) of diabetes symptoms using continuous glucose monitoring (CGM) and ecological momentary assessment. Participants used a smartphone application to rate 25 diabetes symptoms in their daily lives over 8 days. These symptoms were grouped into four blocks so that each symptom was rated six times on 2 days (noon, afternoon and evening). The symptom ratings were associated with the glucose levels for the previous 2 hours, measured with CGM. Linear mixed-effects models were used, allowing for nested random effects and the conduct of N = 1 analysis of individual associations. In total, 192 individuals with type 1 diabetes and 179 with type 2 diabetes completed 6380 app check-ins. Four symptoms showed a significant negative association with glucose values, indicating higher ratings at lower glucose (speech difficulties, P = .003; coordination problems, P = .00005; confusion, P = .049; and food cravings, P = .0003). Four symptoms showed a significant positive association with glucose values, indicating higher scores at higher glucose (thirst, P = .0001; urination, P = .0003; taste disturbances, P = .021; and itching, P = .0120). There were also significant positive associations between microangiopathy and eight symptoms. Elevated depression and diabetes distress were associated with higher symptom scores. N = 1 analysis showed highly idiosyncratic associations between symptom reports and glucose levels. The N = 1 analysis facilitated the creation of personalized symptom profiles related to glucose levels with consideration of factors such as complications, gender, body mass index, depression and diabetes distress. This approach can enhance precision monitoring for diabetes symptoms in precision medicine.

Obturator Innovations for Individuals Post-Hemimaxillectomy: Confronting Challenges

Hemimaxillectomy patients frequently experience difficulties in speech, swallowing, and overall quality of life due to the loss of anatomical structure and function. Advancements in obturator design and materials enhance fit, retention, and comfort, as well as innovations in digital fabrication techniques that allow for customized solutions tailored to individual anatomical needs. Common challenges faced by patients, including issues related to adaptation, psychosocial impact, and the importance of interdisciplinary care, are addressed. Through case studies and recent research findings, effective strategies for optimizing obturator functionality and improving patient outcomes are highlighted. This review aims to provide insights into the evolving landscape of prosthetic rehabilitation for hemimaxillectomy patients, highlighting the importance of ongoing innovation in enhancing their quality of life. It explores the latest advancements in obturator systems tailored for individuals who have undergone hemimaxillectomy, a procedure that leads to significant functional and aesthetic challenges.