Speech Problems Research Articles

Когнитивное и речевое развитие детей дошкольного возраста, зачатых путем вспомогательных репродуктивных технологий

<p style="text-align: justify;"><strong>Objectives. </strong>The mental health of children conceived using assisted reproductive technologies (ART) is a growing concern for parents and professionals. With a maximum compliance with the conditions for using reproductive technologies, the birth of a healthy child is expected. But some children conceived through artificial insemination have developmental problems, speech and/or cognitive problems. A pilot study was conducted on the cognitive and speech development of children from 3 to 8 years old with the aim of a comparative analysis of children from induced pregnancy with children conceived naturally, to determine the possible impact of ART methods on children's health.</p> <p style="text-align: justify;"><strong>Methods.</strong> The cognitive and speech functions of 115 children aged 3 to 8 years were studied: 54 children from induced pregnancy were included in the experimental groups (EG 1 and EG 2) and 61 children from natural conception were included in the control groups (CG 1 and CG 2). The method of neuropsychological diagnostics of children of L.S. Tsvetkova and methods of speech therapy examination (assessment of the state of facial and articulatory muscles, breathing, prosodic speech, general speech development) were used. The results were processed through the qualitative and quantitative assessment of the correspondence of the child’s cognitive and speech development to normative ontogenesis.</p> <p style="text-align: justify;"><strong>Results. </strong>It has been determined that children conceived through ART have a high percentage of perinatal risk: 35% of children (n=54) conceived through ART have: mental disorders (autism, intellectual disability) and various speech disorders in 77% of cases, — which has a negative impact on the development of cognitive activity. In children conceived naturally (n=61), the percentage of disorders was lower: in 47% of cases, cognitive disorders were noted, and in 60% of children, speech disorders of mild to moderate severity were identified.</p> <p style="text-align: justify;"><strong>Conclusions</strong>. The hypothesis about the possible influence of the fertilization methods used, the characteristics of the procedure, the health status of the parents before conception, the course of the mother’s pregnancy and other prenatal factors on the occurrence of developmental disorders in children conceived through ART is supported. An interdisciplinary approach to organizing research will allow a comprehensive study of the developmental features of children from induced pregnancy and the timely identification of possible dysontogenetic risk factors.</p>

The Association between the Dental Status and Tongue Thrust Habits of Latvian Preschool Children and Their Mothers' Oral Health Knowledge.

The aim of this study was to describe the factors that affect the normal dental development of preschool children in Latvia, and to investigate sources that mothers use to get information on children's oral health. A cross-sectional study was performed in two kindergartens in Latvia (cluster sampling). The study sample comprised 141 child-mother pairs of preschool children aged 4-7 years. The dental situation of all children was assessed including evaluation by an orthodontist and a speech therapist, and mothers of children filled out the survey on oral health-related habits and information about it. We described individually factors related to orthodontal situations, children's speech problems, and factors that can affect tongue thrust. We investigated relationships between sources of mothers' information and oral health-related behaviors using univariate (Kruskal-Wallis test, a chi-squared test, a Fisher test, or Cramer's V test) and multivariate analyses. We built a multiple logistic regression model adjusted for the demographic and oral health-related factors to investigate the factors associated with tongue thrust. Results of multiple logistic regression were presented with odds ratio (OR) and 95% confidence intervals (CI). In total, 36.9% of children grazed vegetables several times a week, and 61.0% cleaned their teeth twice a day. Of mothers, 12% did not receive any information about child dental care from their general physician, and 23.4% found the received information insufficient. A total of 43.3% of mothers received oral health-related information from friends, and it was significantly related to less carbonated water (p < 0.01), more help during teeth cleaning (p = 0.03), starting cleaning teeth in earlier age (p = 0.03), and more frequent visits to a child dentist (p = 0.03). A lack of knowledge was found to be prominent in mothers of kindergarten children in Latvia, and most of them received information not from official sources such as their general physician. This can be related to some problems in oral health behaviors and oral health-related diseases. Communication among dental health specialists, state authorities, and families is crucial for the improvement of children's dental situation.

Prosthetic Rehabilitation of Post Covid Mucormycosis of Maxilla with Definitive Obturator Prosthesis- A 24 Month Follow Up Case Report

The second wave of COVID-19 in April 2021 witnessed a new mutated variant of SARS-CoV2 known as B.1.617 resulting in Mucormycosis. Inhalation, ingestion, or contamination of ulcerated mucosa by fungal spores results in infection and cause Mucormycosis. Objective: To highlight how a complex case of oral mucormycosis can be misdiagnosed due to its similar clinical presentations with other periodontal diseases and benefits of prosthetic rehabilitation of surgical defects with definitive obturator which improves the quality of life by restoring oral function and aesthetics. Case report: A 35-year-old female reported with chief complaint of pain, pus and mobility in upper front teeth region of 2 months and swelling of mid-face. Darkening of skin, swelling with tenderness over bilateral malar- infraorbital regions with epiphora and blurred vision in right eye and discharge from right nostril. She had multiple abscess in attached gingiva in incisor and premolar region of maxilla having probing depths ≤ 4mm with mobility. Conclusion: A precise diagnosis is prerequisite to specific treatment of any disease. Treatment often requires an extensive surgical resection causing facial deformation, masticatory, swallowing and speech problems. It is important to rehabilitate these patients by correcting the defects with the help of obturators and improve their lifestyle.

Outcome measures in Angelman syndrome

BackgroundAngelman syndrome (AS) is a rare neurodevelopmental disorder characterized by severe intellectual disability, little to no expressive speech, visual and motor problems, emotional/behavioral challenges, and a tendency towards hyperphagia and weight gain. The characteristics of AS make it difficult to measure these children’s functioning with standard clinical tests. Feasible outcome measures are needed to measure current functioning and change over time, in clinical practice and clinical trials.AimOur first aim is to assess the feasibility of several functional tests. We target domains of neurocognitive functioning and physical growth using the following measurement methods: eye-tracking, functional Near-Infrared Spectroscopy (fNIRS), indirect calorimetry, bio-impedance analysis (BIA), and BOD POD (air-displacement plethysmography). Our second aim is to explore the results of the above measures, in order to better understand the AS phenotype.MethodsThe study sample consisted of 28 children with AS aged 2–18 years. We defined an outcome measure as feasible when (1) at least 70% of participants successfully finished the measurement and (2) at least 60% of those participants had acceptable data quality. Adaptations to the test procedure and reasons for early termination were noted. Parents rated acceptability and importance and were invited to make recommendations to increase feasibility. The results of the measures were explored.ResultsOutcome measures obtained with eye-tracking and BOD POD met the definition of feasibility, while fNIRS, indirect calorimetry, and BIA did not. The most important reasons for early termination of measurements were showing signs of protest, inability to sit still and poor/no calibration (eye-tracking specific). Post-calibration was often applied to obtain valid eye-tracking results. Parents rated the BOD POD als most acceptable and fNIRS as least acceptable for their child. All outcome measures were rated to be important. Exploratory results indicated longer reaction times to high salient visual stimuli (eye-tracking) as well as high body fat percentage (BOD POD).ConclusionsEye-tracking and BOD POD are feasible measurement methods for children with AS. Eye-tracking was successfully used to assess visual orienting functions in the current study and (with some practical adaptations) can potentially be used to assess other outcomes as well. BOD POD was successfully used to examine body composition.Trial registrationRegistered d.d. 23-04-2020 under number ‘NL8550’ in the Dutch Trial Register: https://onderzoekmetmensen.nl/en/trial/23075

Validation of the Polish version of the Self-Evaluation of Communication Experience after Laryngectomy (SECEL) questionnaire

&lt;b&gt;&lt;br&gt;Introduction:&lt;/b&gt; A total laryngectomy can impact multiple aspects of a patient’s life. Self-Evaluation of Communication Experience after Laryngectomy (SECEL) is a questionnaire adapted specifically for self-assessment of communication within laryngectomized patients.&lt;/br&gt; &lt;b&gt;&lt;br&gt;Aim:&lt;/br&gt; The following study aims to evaluate the accuracy, reliability and validity of the Polish version of the questionnaire.&lt;/br&gt; &lt;b&gt;&lt;br&gt;Material and methods:&lt;/b&gt; The sample population consisted of 33 patients using the tracheoesophageal voice. All patient fulfill following questionnaires: SECEL, VHI, EORTC QLQ-C&lt;sub&gt;30&lt;/sub&gt; and EORTC QLQ-H&amp;N&lt;sub&gt;35&lt;/sub&gt;. The objective tests included diadochokinesis (DDK) and maximum phonation time (MPT). The statistical analysis was performed with Wilcoxon’s signed-rank test, Spearman’s Rank Correlation Coefficient, Cronbach’s alpha coefficient, the standardized alpha coefficient, the U-MannWhitney test, and the Kruskal-Wallis test.&lt;/br&gt; &lt;b&gt;&lt;br&gt;Results:&lt;/b&gt; The results proved very good internal coherence of the Polish version of SECEL questionnaire, with Cronbach’s alpha coefficient reaching the value of 0.92 and the standardized alpha coefficient being 0.93. The results demonstrated high reliability of the test’s reproducibility (Spearman coefficient 0,73). Statistical analysis indicated a high correlation between both SECEL and VHI, and SECEL and the subscale of Speech Problems of H&amp;N35 questionnaire. SECEL results were not correlated with MPT(a) and DDK. The results obtained are comparable to those provided in previous language- specific validations of the SECEL questionnaire.&lt;/br&gt; &lt;b&gt;&lt;br&gt;Conclusion:&lt;/b&gt; The Polish version of the SECEL questionnaire has satisfactory internal coherence, reliability and reproducibility. Furthermore, the results of statistical analysis of the Polish-language version of SECEL remain consistent with those obtained by the authors of other validations. The aforementioned data is sufficient for the proposal to widespread the Polish translation of the SECEL questionnaire in clinical practice.&lt;/br&gt;

Perception, sentiments, and the level of awareness toward the dental implant among general population in Sulaimaniyah City, Iraq

BackgroundEdentulism is one of the most commonly encountered conditions affecting the oral cavity. Dental implants have emerged as a widely accepted treatment option prosthodontically. However, lack of public awareness and the cost of the treatment act as barriers to limit their applicability.ObjectivesTo investigate the perception, sentiments, and level of awareness toward dental implants among the general population in Sulaimaniyah City, Iraq.Materials and methodsA questionnaire-based survey was conducted on 1132 participants in Sulaimaniyah City, Iraq, from February 15, 2023, till August 15, 2023, to collect their sociodemographic data, knowledge and attitudes toward dental implants for their missing tooth/teeth.ResultsThe mean age of participants was 41.3 ± 14.6 years, and most (30.7%) belong to the age group 31–44 years. Also, most of them were males (63.6%), married (75.3%), educated (91.3%), from rural areas (82.3%), and had > 1 missing tooth (75%). Regarding the participants’ knowledge of dental implants, most had information (78.4%)/heard about it (83.3%), mainly from dentists (43.6%); however, least of them (21.5%) /their family members (43%) had replaced missing teeth by dental implants. Additionally, the participant’s attitudes toward the dental implant indicated that most of them were interested in replacing their missing teeth (88.8%) but did not do it due to financial reasons (87%) and considered replacement as a significant (92.5%) and safe process (79.2%). Also, most of them thought there was no substantial difference between artificial and natural tooth appearance/function (47.9%), preferred the delayed implant for dental implant (47.7%), and would like to do an implant due to problems in dental appearance, speech, or dental function (81.5%). Finally, significant/highly significant differences were seen between each participant’s factor (age, gender, marital status, education level, and residency) with most items of attitude/awareness toward dental implants.ConclusionsMost participants were aware of the knowledge and attitude of dental implants for replacing missing tooth/teeth, especially males, married ones, educated individuals, and those from urban areas; however, financial problems are the main obstacle. Additionally, the delayed implant is preferable for replacing missing tooth/teeth using dental implants among studied individuals.

Speech Outcomes in 5-Year-Old Korean Children with Bilateral Cleft Lip and Palate.

Background Among the cleft types, bilateral cleft lip and palate (BCLP) generally requires multiple surgical procedures and extended speech therapy to achieve normal speech development. This study aimed to describe speech outcomes in 5-year-old Korean children with BCLP and examine whether normal speech could be achieved before starting school. Methods The retrospective study analyzed 52 children with complete BCLP who underwent primary palatal surgery at a tertiary medical center. Three speech-language pathologists made perceptual judgments on recordings from a speech follow-up assessment of 5-year-old children. They assessed the children's speech in terms of articulation, speech intelligibility, resonance, and voice using the Cleft Audit Protocol for Speech-Augmented-Korean Modification. Results The results indicated that at the age of five, 65 to 70% of children with BCLP presented articulation and resonance within normal or acceptable ranges. Further, seven children with BCLP (13.5%) needed both additional speech therapy and palatal surgery for persistent velopharyngeal insufficiency and speech problems even at the age of five. Conclusion This study confirmed that routine follow-up speech assessments are essential as a substantial number of children with BCLP require secondary surgical procedures and extended speech therapy to achieve normal speech development.

Association Between the Number of Chronic Diseases and Oral Health Problems in Korean Adults.

The relationship between the number of chronic diseases and oral health problems is unclear. We sought to determine whether the number of chronic diseases and multimorbidity have an association with oral health problems in Korean adults. Data from 23,246 adults aged ≥ 19 years, who participated in the Korea National Health and Nutrition Examination Survey from 2016 to 2019, were considered for our analyses. Participants with either masticatory or speech problems were defined as the oral health problems group. Individuals who reported having had dental treatment in the last year were defined as the dental treatment group. We used multivariable logistic regression analyses to calculate odds ratios (ORs) and 95% confidence intervals (CIs). The proportions of oral health problems and dental treatment were higher in participants with multimorbidity than in those without multimorbidity (all p < 0.001). Moreover, ORs of oral health problems demonstrated a tendency to increase with the number of chronic diseases, even after adjustment (p for trend < 0.001). Compared to the participants without multimorbidity, the risk of having oral health problems increased by 25% (OR: 1.25, 95% CI: 1.12-1.39), and that of receiving dental treatment increased by 23% (OR: 1.23, 95% CI: 1.13-1.34) in patients with multimorbidity. The risk of oral health problems and dental treatment increased in association with the number of chronic diseases in Korean adults. The authors emphasise the risks and importance of oral health in a large population affected by multiple chronic diseases.

Quantifying Articulatory Working Space in Individuals Surgically Treated for Oral Cancer With Electromagnetic Articulography.

The purpose of this study was to quantify sentence-level articulatory kinematics in individuals treated for oral squamous cell carcinoma (ITOC) compared to control speakers while also assessing the effect of treatment site (jaw vs. tongue). Furthermore, this study aimed to assess the relation between articulatory-kinematic measures and self-reported speech problems. Articulatory-kinematic data from the tongue tip, tongue back, and jaw were collected using electromagnetic articulography in nine Dutch ITOC and eight control speakers. To quantify articulatory kinematics, the two-dimensional articulatory working space (AWS; in mm2), one-dimensional anteroposterior range of motion (AP-ROM; in mm), and superior-inferior range of motion (SI-ROM in mm) were calculated and examined. Self-reported speech problems were assessed with the Speech Handicap Index (SHI). Compared to a sex-matched control group, ITOC showed significantly smaller AWS, AP-ROM, and SI-ROM for both the tongue tip and tongue back sensor, but no significant differences were observed for the jaw sensor. This pattern was found for both individuals treated for tongue and jaw tumors. Moderate nonsignificant correlations were found between the SHI and the AWS of the tongue back and jaw sensors. Despite large individual variation, ITOC showed reduced one- and two-dimensional tongue, but not jaw, movements compared to control speakers and treatment for tongue and jaw tumors resulted in smaller tongue movements. A larger sample size is needed to establish a more generalizable connection between the AWS and the SHI. Further research should explore how these kinematic changes in ITOC are related to acoustic and perceptual measures of speech.

QEEG findings in nonsyndromic sagittal craniosynostosis

Despite the undertaken treatment, children with nonsyndromic sagittal craniosynostosis (NSC) are burdened with problems with speech development, visuospatial and other cognitive deficits. The electroencephalographic assessment has not influenced the diagnostics and treatment strategy of craniosynostosis so far but the introduction of quantitative EEG (QEEG) protocols renewed an interest in the functional aspect of this disease. In this study we retrospectively assessed the QEEG records of 25 children with NSC aged 1–18 months (mean age 9.62 months) before and after surgery. In each case, the amplitude, interhemispheric (ICoh) and intrahemispheric (HCoh) coherence indices were calculated. Obtained data were compared to age-matched control group of 25 normocephalic children. Children with NSC presented significantly lower values of amplitudes and intrahemispheric coherence in occipital, posterior parietal and posterior temporal regions than normocephalic children. The values of amplitudes, ICoh and HCoh in pre- and postoperative QEEG records mostly remained unchanged, with a slight improvement in HCoh in centro-parietal area. These findings suggest that NSC children present their own QEEG profile. The operative treatment improves an intrahemispheric connectivity, but there still exists a significant difference in the occipitotemporal, frontotemporal and centro-frontal areas, which may be considered as a functional substrate of reported speech and neurocognitive problems. QEEG findings in nonsyndromic sagittal craniosynostosis.

Understanding of Speech Production in Cleft Lip/Palate

A cleft lip is a disorder caused by the incomplete joining of the lips or palate during fetal development. This condition can result in a variety of physical impairments, speech impairments, and even psychological impairments that can affect a person’s life. Patients with cleft lip usually suffer from dental problems, speech problems, and breathing and hearing problems. This condition can certainly lead to emotional and social problems that require attention from various parties, including surgeons, dentists, speech therapists, and psychologists, essential. Patients with cleft disorders usually have an inability to produce speech sounds due to the insufficient amount of air pressure passing through the oral cavity. The severity of the disorder depends on various factors such as the intensity of the cleft, age at the surgery, and hearing loss. Early support and treatment can greatly improve patients’ quality of life. It is necessary to conduct comprehensive research to address the different issues associated with cleft lip/palate. This involves not only healthcare professionals, such as speech-language pathologists, surgeons, orthodontists, and pediatric dentists, but also communication experts, such as linguists, to develop effective treatments and strategies. This review article discusses the relationship between clefts and speech production, as well as the factors that play a role in improving the quality of life of patients with cleft. The article aims to provide a comprehensive overview of clefts, serving as a reference for dentists, surgeons, linguists, and other professionals who work with cleft patients.

Creutzfeldt–Jakob Disease, a Diagnostic Challenge and Management in ICU: A Case Report

PPrion disease is a group of neurogenerative disorders caused by misfolding of prion proteins into abnormal proteins. It is presented with multiple central nervous system-related disorders such as decreased cognitive function, movement disorder, seizure, speech problems, dementia, visual blurring, and limb weakness. It is rapidly progressive and highly fatal with an annual incidence of about one per million all over the world. A 65-year-old lady presented in our hospital with all the above mix-up complaints in poor general condition. All workups relevant to the above scenario were done to find the diagnosis. All possible metabolic cause was ruled out; however, magnetic resonance imaging of the brain led to suspicion of Creutzfeldt–Jakob disease. Electroencephalogram was done further to make this diagnosis confirm. The patient responded to the general supportive treatment and discharge with stable and improved status. Key words: Creutzfeldt Jacob disease, Prion, Intensive care unit, Electroencephalogram, Dementia.

The Problems of Commencement Speech

The Problems of Commencement Speech

Differences in Language and Literacy Competence According to the Comorbidity of Speech Sound Disorder and Attention-Deficit/Hyperactivity Disorder: for Preschool 6-Year-Olds

Objectives: This study analyzed the differences in language and literacy skills in the groups (None, SSD, ADHD, and SSD+ADHD) classified according to the comorbidity of Speech Sound Disorder (SSD) and Attention Deficit/Hyperactivity Disorder (ADHD).Methods: The Korean Children’s Panel Study (PSKC) conducted SSD and ADHD screening tests on 1,489 6-year-old preschoolers. In this study, cross-analysis was conducted by dividing the two disability groups into Absent and Present to measure the significance of the degree of accompanying disability. In addition, multivariate covariance analysis (MANCOVA) was conducted using intelligence as covariance as the result of scoring language and literacy skills of the four groups (None, SSD, ADHD, and SSD+ADHD).Results: First, through the results of this study, it was confirmed that SSD and ADHD are significantly more likely to be comorbid. Second, both children with SSD and those with ADHD had significantly lower language skills than Typically Developing children. Third, there was a difference in the detailed items of the SSD and ADHD group literacy. A notable distinction between the two groups is that the ADHD group had a higher rate of writing problems. Fourth, the comorbidity of SSD and ADHD showed different characteristics from None, SSD, and ADHD in reasoning areas such as “predicting the next story”.Conclusion: Speech problems that receive a lot of attention in preschool age childhood should be able to be interpreted and diagnosed in relation to problems with language development and language learning delays in school age children. From this point of view, this study is expected to serve as a basic study on the early diagnosis of language academic ability development.

Differences in Development of Activities, Participation during School Age (1st to 4th grade) According to Speech Sound Ability in Pre-school Age

Objectives: This study divided groups according to speech sound ability in the pre-school age and longitudinally examined the differences in the development patterns of activities from 1st grade to 4th grade.Methods: Longitudinal research data collected from the 7th to 11th year included in the Panel Study on Korean Child (PSKC) were used. The subjects of study were classified into three groups; Typically developing (TD), mild Speech Sound Disorder (SSD), and moderate SSD according to the results of the ‘Three Sentence Screening Test’ in the 7th year. Activities, participation are comprised of learning and applying knowledge, interaction and relationship, major life. A rating score based on the evaluation of each question by the teacher in charge of the child was used.Results: The average score of the TD group was high in all areas. The SSD group was found to show significant differences from the TD in learning and applying knowledge, major life.Conclusion: Children with speech sound disorders show difficulties not only learning skills such as literacy, mathematics, and attention, but also activities required for school education. In a clinical setting, areas that may present problems should be identified and included in the intervention plan in order to minimize not only speech problems but also related problems.

ASSERTIVE SPEECH ACTS IN THE FILM SEJUTA SAYANG UNTUKNYA DIRECTOR HERWIN NOVIANTO

This study examines the problem of assertive illocutionary speech acts in the film Sejuta Sayang Untukya by Herwin Novianto. This study aims to describe assertive illocutionary utterances in the film Sejuta Sayang Untuknya by Herwin Novianto. This type of research is descriptive qualitative. The data collection technique in this study utilized the observing method, with the research technique namely basic tapping techniques and advanced techniques which are divided into competent engaged observing techniques (SLC), proficient free engaging observing techniques (SLBC), and note taking techniques. The data research instrument is the researcher himself who acts as an observer. The data analysis technique was carried out by watching the film Sejuta Sayang Untuknya by Herwin Novianto repeatedly in order to understand the meaning of the speech in the film. Then transcribe the data that has been obtained, followed by describing the data. Furthermore, researchers concluded the data that has been analyzed. The results of data analysis are presented in the form of a brief description. This research shows that there are 22 assertive illocutionary speech acts in the film Sejuta Sayang u by Herwin Novianto. These assertive speech acts include: 1) there are 8 assertive utterances of telling, 2) there are 2 assertive utterances stating, 3) there are 8 assertive utterances refusing, 4) there are 3 utterances expressing opinions, and 4) there is 1 assertive utterance reporting.

Amlodipine Induced Gingival Enlargement- A Case Report

Exuberant proliferation of gingival soft tissues in response to local and systemic conditions leads to gingival overgrowth which may create speech problems, difficulty in mastication, altered tooth eruption, and esthetic problems. Gingival enlargement can also occur as a side effect of certain drugs like calcium channel blockers, anti-convulsants and immunosuppressants given for systemic diseases. Hypertension is the major risk factor for cardiovascular diseases. Amlodipine has been widely used from past 2 decades in the management of hypertension and stable angina because of its good efficacy and safety compared with other antihypertensive medications. Here we report a rare case of Amlodipine induced severe gingival enlargement in a 61year old hypertensive male patient taking a dose of 10 mg per day in two divided doses.

Effects of stepped speech rehabilitation and psychological intervention on speech disorders and cognitive function in Parkinson disease patients

To examine the impact of stepwise speech rehabilitation exercise therapy in the treatment of patients with Parkinson speech problems under psychological intervention on clinical results and cognitive functioning. Parkinson speech disorder patients who met the inclusion criteria were selected and divided into a control group and an observation group for training respectively. The control group used conventional nursing methods, including training in orofacial movement, vocalization, pitch, volume and breath control. The observation group used stepwise speech rehabilitation exercise intervention combined with psychotherapy nursing programme. In the statistical analysis, independent sample t-test and chi-square test were used to test the significance of the data processing methods. In the statistical analysis of baseline functional level (P &gt; .05). The difference was not statistically significant. After 7 weeks of training, the mFDA level and speech intelligibility increased in both the observation and control groups. From the situation analysis of “modified drinking test” and the comparison of UPDRS-I scores, it can be seen that dysphagia and Parkinson dysphasia were reduced in both groups after training. The observation group spontaneous speech dimension was greater than the control group by around 0.07 in the aphasia comparison. Both groups displayed an upward trend in their MMSE and Montreal Cognitive Assessment (MoCA) when measuring cognitive function; the evaluation of P300, constructive function, and quality of life revealed this. The observation group P300 potential score was 0.13 points higher than that of the control group. The therapeutic training of stepped speech rehabilitation exercise care combined with psychological intervention has significant nursing effects on patients with Parkinson disease speech disorders, and the patients’ cognitive functions have been effectively improved.

A proteomic approach to investigate the role of the MECP2 gene mutation in Rett syndrome redox regulatory pathways

Mutations in the X-linked methyl-CpG-binding 2 (MECP2) gene lead to Rett Syndrome (RTT; OMIM 312750), a devasting neurodevelopmental disorder. RTT clinical manifestations are complex and with different degrees of severity, going from autistic-like behavior to loss of acquired speech, motor skills and cardiac problems. Furthermore, the correlation between the type of MECP2 mutation and the clinical phenotype is still not fully understood.Contextually, different genotypes can differently affect the patient's phenotype and omics methodologies such as proteomics could be an important tool for a molecular characterization of genotype/phenotype correlation.The aim of our study was focused on evaluating RTT oxidative stress (OS) responses related to specific MECP2 gene mutations by using proteomics and bioinformatics approaches.Primary fibroblasts isolated from patients affected by R133C and R255× mutations were compared to healthy controls (HC).After clustering primary dermal fibroblasts based on their specific MECP2 mutations, fibroblast-derived protein samples were qualitative and quantitative analyzed, using a label free quantification (LFQ) analysis by mass spectrometry (MS), achieving a preliminary correlation for RTT genotype/phenotype. Among the identified proteins involved in redox regulation pathways, NAD(P)H:quinone acceptor oxidoreductase 1 (NQO1) was found to be absent in R255× cells, while it was present in R133C and in HC fibroblasts. Moreover, NQO1 aberrant gene regulation was also confirmed when cells were challenged with 100 μM hydrogen peroxide (H2O2).In conclusion, by employing a multidisciplinary approach encompassing proteomics and bioinformatics analyses, as well as molecular biology assays, the study uncovered phenotypic responses linked to specific MECP2 gene mutations.These findings contribute to a better understanding of the complexity of RTT molecular pathways, confirming the high heterogeneity among the patients.

Caregiving Preparedness and Caregiver Burden in Omani Family Caregivers for Patients with Acquired Brain Injury

Objectives: This study aimed to explore the caregiving preparedness and caregiver burden among Omani family caregivers (FCs) of patients with acquired brain injury (ABI). Methods: This prospective observational study was conducted at the neurology clinic at Khoula Hospital, Muscat, Oman, from April 2019 to December 2021. Data were collected from 119 FCs and their patients at the time of discharge from the hospital and 16 weeks post-discharge during follow-up care. The questionnaire comprised the Zarit Burden Index, the Preparedness for Caregiving Scale, the Short-Form-12 Health Survey, and a patient symptom scale. Results: The FCs were predominantly female (53.8%), and the mean age was 38.27 ± 9.11 years. Most patients had moderate to severe ABI (95.8%) due to stroke (56.3%) and trauma (30.3%). The most common patient symptoms were loss of muscle strength, speech problems, mood problems, memory loss, and change in behaviour. Most FCs were found to have low caregiving preparedness (58%) at discharge, and 19.1% were found to have a high level of caregiver burden at 16 weeks post-discharge. The length of time post-injury (P &lt;0.01), symptom severity (P &lt;0.01) and the FCs’ physical and mental health status (P &lt;0.01 each) were found to be significant predictors of caregiving preparedness, whereas caregiver preparedness (P &lt;0.01), symptom severity (P &lt;0.01), and caregivers’ mental health (P = 0.028) were seen as the predictors of caregiver burden. Conclusion: Omani FCs of patients with ABI tend to commence the caregiver role with inadequate preparation, and shortly after, a significant number suffer high caregiver burden. Interventions focusing on the caregiver’s health and training in symptom management may improve the outcomes of FCs and patients. Keywords: Acquired Brain Injury; Caregiver Burden; Caregivers; Family; Rehabilitation; Traumatic Brain Injuries; Oman.