Outcomes of primary repair of cleft palate using sommerled intravelar veloplasty associated with velocardiofacial syndrome.

OBJECTIVES: Velocardiofacial syndrome, a prevalent microdeletion syndrome occurring in 1 in 2000-4000 live births, is marked by speech and language disorders, notably velopharyngeal dysfunction. This study investigates speech outcomes, nasometric and videofluoroscopic results before and after primary repair of cleft palate using the Sommerlad intravelar veloplasty (SIVV) technique within the Isfahan cleft care team for patients with velocardiofacial syndrome. METHODS: Employing a quasi-experimental design, 19 participants with velocardiofacial syndrome, who underwent primary cleft palate repair by the Isfahan cleft care team, were included through convenience sampling. Perceptual and instrumental outcomes were assessed pre-and post-operatively. Statistical analysis encompassed paired t-tests and the non-parametric Wilcoxon signed-rank test (p < 0.05). RESULTS: The study identified no statistically significant differences between pre-and post-surgical speech outcome parameters and nasalance scores. Nonetheless, a significant distinction emerged in the velopharyngeal closure ratio based on fluoroscopic evaluation (p = 0.038). CONCLUSION: The efficacy of the SIVV technique in treating velopharyngeal dysfunction in velocardiofacial syndrome patients is inconclusive, demanding further research. Post-surgical speech outcomes are influenced by surgical technique, hypotonia, apraxia of speech, and surgery timing. Notably, an elevated velopharyngeal valve closure ratio, though anatomically indicative, does not exclusively predict surgical success.

A cAMP signalosome in primary cilia drives gene expression and kidney cyst formation.

The primary cilium constitutes an organelle that orchestrates signal transduction independently from the cell body. Dysregulation of this intricate molecular architecture leads to severe human diseases, commonly referred to as ciliopathies. However, the molecular underpinnings how ciliary signaling orchestrates a specific cellular output remain elusive. By combining spatially resolved optogenetics with RNA sequencing and imaging, we reveal a novel cAMP signalosome that is functionally distinct from the cytoplasm. We identify the genes and pathways targeted by the ciliary cAMP signalosome and shed light on the underlying mechanisms and downstream signaling. We reveal that chronic stimulation of the ciliary cAMP signalosome transforms kidney epithelia from tubules into cysts. Counteracting this chronic cAMP elevation in the cilium by small molecules targeting activation of phosphodiesterase-4 long isoforms inhibits cyst growth. Thereby, we identify a novel concept of how the primary cilium controls cellular functions and maintains tissue integrity in a specific and spatially distinct manner and reveal novel molecular components that might be involved in the development of one of the most common genetic diseases, polycystic kidney disease.

The quantitative ultrasound study of tongue shape and movement in normal Persian speaking children.

OBJECTIVES: Ultrasound research on speech production in normal speakers has long used quantitative measurements in different languages. However, no studies in this area have been conducted in the Persian language. This study investigated Persian speaking children scores on two single curve measures of tongue shape, based on midsagittal tongue shape data from ultrasound imaging. METHODS: This is a cross-sectional study conducted on four 7-8 years old Persian speaking children. The data for analysis was collected using an ultrasound machine in 2018-2019. The stimuli included a range of consonants including/p/,/t/,/f/,/k/and/s/in consonant-vowel sequences, with the vowels/a/and/i/. The measures do not require head stabilization. Statistical analyses were done using Linear mixed models in lmer software package of R version 3.6.2. The results were performed by Chi-squared and Tukey post hoc tests in R. RESULTS: In all of the consonants, the mean of two single curve measures in the context of/i/was greater than the context of/a/. However, there was no significant effect of the vowel context on one measure for the/k/. Also, these measures were significantly different in each of the Persian consonants and they showed consistent patterns across all of the participants (P<0.001). CONCLUSION: It seems the single curve measures are the valid value of tongue dorsum excursion for Persian speaking children. This study showed that measures of single curves are reliable for distinguish between consonants in vowel contexts and created robust results on lingual coarticulation of the consonants without the use of head stabilization.

Narrative discourse in Persian-speaking patients with mild Alzheimer's disease.

Despite the significance of discourse impairments, they have not been thoroughly investigated in Persian-speaking patients with Alzheimer's disease (AD). OBJECTIVE: the aim of this study was to perform a multi-level analysis of narrative discourse in Persian-speaking patients with mild AD and to compare them with healthy elderly. METHODS: the study included 14 older adults with mild AD and a matched group of 14 healthy elderly. Using a storytelling task based on serial pictures, both macro- and micro-linguistic aspects of narrative discourse were assessed. Cohesion ratio and coherence were investigated as macrolinguistic dimensions of discourse. The studied microlinguistic features included syntactic complexity and verbal errors (mostly involving phonological and semantic paraphasias and mazes). Severity of AD was determined using the Cognitive Dementia Rating (CDR). RESULTS: there were significant differences between the groups regarding cohesion ratio (0.9 ± 0.34 vs. 1.29 ± 0.45, p = 0.02) and coherence scores (2.43 ± 0.41 vs. 3.02 ± 0.81, p = 0.03). Verbal errors and syntactic complexity did not differ significantly between the groups. CONCLUSION: Persian-speaking patients with mild AD show macrolinguistic impairments in producing discourses based on picture description. Therefore, intervention protocols should focus on the ability to organize information on a specific subject and also to connect sentences produced using appropriate cohesive ties.

Apesar da significância das deficiências discursivas, elas não foram completamente investigadas em pacientes de fala persa com doença de Alzheimer (DA). OBJETIVO: o objetivo deste estudo foi desenvolver uma análise multinível do discurso narrativo em pacientes de língua persa com DA leve e compará-los com idosos saudáveis. MÉTODOS: o estudo incluiu 14 idosos com DA leve e um grupo pareado de 14 idosos saudáveis. Usando uma tarefa narrativa baseada em imagens seriais, os aspectos macro e microlinguísticos do discurso narrativo foram avaliados. Coesão e coesão foram investigadas como dimensões macrolinguísticas do discurso. As características microlinguísticas estudadas incluíram complexidade sintática e erros verbais (incluindo principalmente parafasias e labirintos fonológicos e semânticos). A gravidade da DA foi avaliada por meio do Cognitive Dementia Rating (CDR). RESULTADOS: houve diferenças significativas entre os grupos quanto ao coeficiente de correlação (0,9 ± 0,34 vs. 1,29 ± 0,45, p = 0,02) e escores de coerência (2,43 ± 0,41 vs. 3,02 ± 0,81, p = 0,03). Erros verbais e complexidade sintática não foram significativamente diferentes entre os grupos. CONCLUSÃO: pacientes de língua persa com DA leve apresentam comprometimento macrolinguístico em produzir discursos baseados na descrição de figuras. Portanto, os protocolos de intervenção devem enfocar sua capacidade de organizar informações sobre um assunto específico e também conectar suas sentenças produzidas por laços coesos apropriados.

Narrative discourse in Persian-speaking patients with mild Alzheimer's disease / Discurso narrativo em pacientes de fala persa com doença de Alzheimer leve

ABSTRACT. Despite the significance of discourse impairments, they have not been thoroughly investigated in Persian-speaking patients with Alzheimer's disease (AD). Objective: the aim of this study was to perform a multi-level analysis of narrative discourse in Persian-speaking patients with mild AD and to compare them with healthy elderly. Methods: the study included 14 older adults with mild AD and a matched group of 14 healthy elderly. Using a storytelling task based on serial pictures, both macro- and micro-linguistic aspects of narrative discourse were assessed. Cohesion ratio and coherence were investigated as macrolinguistic dimensions of discourse. The studied microlinguistic features included syntactic complexity and verbal errors (mostly involving phonological and semantic paraphasias and mazes). Severity of AD was determined using the Cognitive Dementia Rating (CDR). Results: there were significant differences between the groups regarding cohesion ratio (0.9 ± 0.34 vs. 1.29 ± 0.45, p = 0.02) and coherence scores (2.43 ± 0.41 vs. 3.02 ± 0.81, p = 0.03). Verbal errors and syntactic complexity did not differ significantly between the groups. Conclusion: Persian-speaking patients with mild AD show macrolinguistic impairments in producing discourses based on picture description. Therefore, intervention protocols should focus on the ability to organize information on a specific subject and also to connect sentences produced using appropriate cohesive ties.

RESUMO. Apesar da significância das deficiências discursivas, elas não foram completamente investigadas em pacientes de fala persa com doença de Alzheimer (DA). Objetivo: o objetivo deste estudo foi desenvolver uma análise multinível do discurso narrativo em pacientes de língua persa com DA leve e compará-los com idosos saudáveis. Métodos: o estudo incluiu 14 idosos com DA leve e um grupo pareado de 14 idosos saudáveis. Usando uma tarefa narrativa baseada em imagens seriais, os aspectos macro e microlinguísticos do discurso narrativo foram avaliados. Coesão e coesão foram investigadas como dimensões macrolinguísticas do discurso. As características microlinguísticas estudadas incluíram complexidade sintática e erros verbais (incluindo principalmente parafasias e labirintos fonológicos e semânticos). A gravidade da DA foi avaliada por meio do Cognitive Dementia Rating (CDR). Resultados: houve diferenças significativas entre os grupos quanto ao coeficiente de correlação (0,9 ± 0,34 vs. 1,29 ± 0,45, p = 0,02) e escores de coerência (2,43 ± 0,41 vs. 3,02 ± 0,81, p = 0,03). Erros verbais e complexidade sintática não foram significativamente diferentes entre os grupos. Conclusão: pacientes de língua persa com DA leve apresentam comprometimento macrolinguístico em produzir discursos baseados na descrição de figuras. Portanto, os protocolos de intervenção devem enfocar sua capacidade de organizar informações sobre um assunto específico e também conectar suas sentenças produzidas por laços coesos apropriados.

The incidence of velopharyngeal insufficiency and oronasal fistula after primary palatal surgery with Sommerlad intravelar veloplasty: A retrospective study in Isfahan Cleft Care Team.

OBJECTIVES: This study was designed to determine the incidence of velopharyngeal insufficiency (VPI), oronasal fistula development and facial grimace in patients seen by Isfahan Cleft Care Team (ICCT) after primary Sommerlad intravelar veloplasty (SIVV). Furthermore the association of gender, cleft type and age at primary surgery with the incidence of hypernasality and fistula is determined. METHODS: A group of 40 patients with history of cleft palate with or without cleft lip were identified from the records of ICCT between 2011 and 2014. The main outcome measures were the incidence of hypernasality and fistula after primary palate repair with SIVV. Speech recordings were analyzed by consensus by two speech therapists according to the Cleft Audit Protocol for Speech- Augmented (CAPS-A), (Kappa = 82.4). Deciding whether or not to have a fistula was based on the oral examination videos. RESULTS: Severe and moderate hypernasality was observed in 42.5% of patients. Normal resonance and mild/borderline hypernasality was observed in 37.5% and 20% of patients, respectively. The frequency of fistulas was 7.5%. There was a significant association between hypernasality with cleft type and the age at primary surgery (p < 0.05). CONCLUSION: Significant progress has been made in the outcomes of the primary palate surgeries with the SIVV technique compared to the previous study in the ICCT.

Automatic identification of hypernasality in normal and cleft lip and palate patients with acoustic analysis of speech.

Hypernasality is seen in cleft lip and palate patients who had undergone repair surgery as a consequence of velopharyngeal insufficiency. Hypernasality has been studied by evaluation of perturbation, noise measures, and cepstral analysis of speech. In this study, feature extraction and analysis were performed during running speech using six different sentences. Jitter, shimmer, Mel frequency cepstral coefficients, bionic wavelet transform entropy, and bionic wavelet transform energy were calculated. Support vector machines were employed for classification of data to normal or hypernasal. Finally, results of the automatic classification were compared with true labels to find accuracy, sensitivity, and specificity. Accuracy was higher when Mel frequency cepstral coefficients were combined with bionic wavelet transform energy feature. In the best case, accuracy of 85% with sensitivity of 82% and specificity of 85% was obtained. Results prove that acoustic analysis is a reliable method to find hypernasality in cleft lip and palate patients.

Language Parameters of 4- to 7-Year-Old Persian-Speaking Children with Cleft Lip and Palate.

OBJECTIVE: There are several risk factors including hearing difficulties, lack of language stimulation, and parents' low level of expectation leading to language disorders in children with cleft palate. Therefore, formal language assessments of children with cleft palate are of great importance in order to prevent further disabilities. The purpose of the present study is to evaluate language parameters in 4- to 7-year old Persian-speaking children with cleft palate. PATIENTS AND METHODS: 16 children with unilateral and bilateral cleft lip and palate aged between 4 and 7 years participated in the experiment. The Test of Language Development-Primary, third edition (TOLD-P3) was performed to evaluate the language parameters. The results were scored according to the test manual and compared to normative data published with the TOLD-P3. RESULTS: t test analysis showed a significant difference between language parameters in children with cleft lip and palate and the normative data (p < 0.0001). Furthermore, there was a positive correlation between different aspects of language performance. CONCLUSION: The findings emphasize that speech-language pathologists should also concentrate on early language assessment and treatment for children with cleft lip and palate.

Speech characteristics after articulation therapy in children with cleft palate and velopharyngeal dysfunction - A single case experimental design.

OBJECTIVE: The aim of this study was to investigate the impact of an intensive 10-week course of articulation therapy on articulation errors in cleft lip and palate patients who have Velopharyngeal Insufficiency (VPI), non-oral and passive cleft speech characteristics. METHODS: Five children with cleft palate (+/-cleft lip) with VPI and non-oral and passive cleft speech characteristics underwent 40 intensive articulation therapies over 10 weeks in a single case experimental design. The percentage of non-oral CSCs (NCSCs), passive CSCs (PCSCs), stimulable consonants (SC), correct consonants in word imitation (CCI), and correct consonants in picture naming (CCN) were captured at baseline, during intervention and in follow up phases. Visual analysis and two effect size indexes of Percentage of Nonoverlapping Data and Percentage of Improvement Rate Difference were analyzed. RESULTS: Articulation therapy resulted in visible decrease in NCSCs for all 5 participants across the intervention phases. Intervention was effective in changing percentage of passive CSCs in two different ways; it reduced the PCSCs in three cases and resulted in an increase in PCSCs in the other two cases. This was interpreted as intervention having changed the non-oral CSCs to consonants produced within the oral cavity but with passive characteristics affecting manner of production including weakness, nasalized plosives and nasal realizations of plosives and fricatives. Percent SC increased throughout the intervention period in all five patients. All participants demonstrated an increase in percentage of CCI and CCN suggesting an increase in the consonant inventory. Follow-up data showed that all the subjects were able to maintain their ability to articulate learned phonemes correctly even after a 4-week break from intervention. CONCLUSION: This single case experimental study supports the hypothesis that speech intervention in patients with VPI can result in an improvement in oral placements and passive CSCs.

Comparison of patients' age receiving therapeutic services in a cleft care team in Isfahan.

BACKGROUND: Due to numerous difficulties in patients suffering from varieties of cleft lip and palate, their therapeutic management involves interdisciplinary teamwork. This study was conducted to compare the age of commencing treatments such as speech therapy, secondary palate and alveolar bone grafting and orthodontics between those who sought treatment early and late. MATERIALS AND METHODS: In this retrospective study, 260 files of patients with cleft lip and palate based on their age at the time of admission to a cleft care team were divided into two groups: The early admission and late admission. Both groups compared based on four variables including the mean age of beginning speech therapy, palatal secondary surgery, alveolar bone grafting, and receiving orthodontics using t-test. RESULTS: Based on the results, among 134 patients admitted for speech therapy, the mean age of initiating speech therapy in early clients was 3.3 years, and in the late ones was 9 years. Among 47 patients with secondary surgery, the mean age in early clients was 3.88 years, and in the late clients was 15.7 years. Among 17 patients with alveolar bone grafting, the mean age in the first group was 9 years, and in the other was 16.69 years. Among 24 patients receiving orthodontic services, the mean age in early clients was 7.66 years, and in the second group was 17.05 years. CONCLUSION: There was a significant difference between the age of performing secondary surgery and alveolar bone grafting and the age of beginning speech therapy and receiving orthodontic services in early references and late references to the team.

Prevalence of 22q11.2 microdeletion syndrome in Iranian patients with cleft palate.

BACKGROUND: 22q11.2 microdeletion syndrome is the most common multiple genetic disorder associated with learning disabilities, developmental delays, immune deficiency, hypocalcemia, and cleft palate. Finding some valid criteria for screening of 22q11.2 deletion syndromes in infants would be very helpful in early diagnosis and treatment. MATERIALS AND METHODS: Since 69% of individuals with 22q11.2 deletion have a palatal abnormality, we studied the prevalence of 22q11.2 deletion syndrome in 378 Iranian patients during a 5-year period, including 291 patients affected with cleft palate only without cleft lip (CPO) and 87 patients affected with velopharyngeal incompetence (VPI) and/or submucous cleft palate (SMCP). DNA copy number was analyzed with multiplex ligation-dependent probe amplification (MLPA) technique. RESULTS: In our study, 15/378 (3.97%) patients with palatal anomalies showed 22q11.2 deletion. Interestingly, this prevalence between syndromic patients was 15/104 (14.42%). CONCLUSION: It seems that SMCP or VPI, in addition to one or more another features of 22q11.2 deletions, especially developmental delay, may be good criteria for molecular investigation of 22q11.2 region.

Incidence of velopharyngeal insufficiency and oronasal fistulae after cleft palate repair: A retrospective study of children referred to Isfahan Cleft Care Team between 2005 and 2009.

OBJECTIVE: The purpose of this study is to determine the incidence of velopharyngeal insufficiency (VPI) and fistulae development in patients seen by the Isfahan Cleft Care Team and also determine the association of gender, age at repair, and cleft type with the incidence of each. METHODS: This retrospective study was completed using records of patients referred to Isfahan Cleft Care Team between 2005 and 2009. One hundred thirty-one patients with a history of cleft palate (with or without cleft lip) who had undergone primary palate repair and were at least 4 years of age at the time of the speech evaluation were included in this review. The main outcome of this study was the incidence of fistulae and hypernasality following palatoplasty. A secondary outcome was the association of gender, age at the time of repair, and cleft type on the incidence of fistulae and hypernasality. RESULTS: A post-surgical fistula was present in 23.7% of the patients studied. Fistula rates were significantly higher in patients who had undergone repair of bilateral clefts of the lip and palate (40.9%) than for those patients who had undergone repair of a unilateral cleft lip and palate (16.9%) (p=0.02). Presence of a fistula was not associated with gender (p=0.99) or age at time of primary surgical repair (p=0.71). Mild hypernasality was noted in 15.3% of patients. Moderate or severe hypernasality was present in 66.5% of the patients and the remaining cases presented with normal resonance. Severe hypernasality was significantly higher in patients with a Veau IV type cleft as compared to patients with Veau III cleft types (p=0.04). There was a significantly higher incidence of hypernasality in boys than in girls (p<0.001). The association of age at the time of palatal repair and incidence of hypernasality was not significant (r=0.13, p=0.07). CONCLUSIONS: Overall, post-surgical complications were high in this cohort of patients who had undergone cleft palate repair by Isfahan Cleft Care Team during the study time frame. Therefore, there is a high priority need for increased training of best practices for the surgeons.

Oropharyngeal dysphagia in multiple sclerosis.

Swallowing disorders are commonly observed in multiple sclerosis (MS) patients. The complications of dysphagia are common causes of morbidity and death in late stages of MS. However, dysphagia in MS usually receives limited attention. The purpose of this study was to determine the prevalence of different kinds of swallowing disorders in MS patients with mild to moderate disability; and to identify possible associations between clinical and demographic features of patients and the presence of dysphagia. The swallowing functions of 101 consecutive MS patients were screened by the Northwestern Dysphagia Patient Check Sheet. This is a screening test which identifies patients with pharyngeal stage disorders, aspiration, oral stage disorders and/or pharyngeal delay. 'Dysphagia' was defined as having at least one of the above mentioned four disorders. Among 101 MS patients, 32 (31.7%) were classified as having dysphagia. Pharyngeal stage disorders were the most common observed impairment (28.7%) and aspiration, oral stage disorders, and pharyngeal delay were observed in 6.9%, 5%, and 1% of patients, respectively. Dysphagic patients had a significantly longer disease duration (p = 0.031) and more neurological impairment in cerebellar functional system (p = 0.04) when compared with non-dysphagic patients. Moreover, dysphagia was significantly more prevalent in patients with more neurological disability as measured by Expanded Disability Status Scale (EDSS) scores (p = 0.04). These results emphasize the importance of assessment and management of swallowing function in MS patients, particularly in patients with a high EDSS score; more severe cerebellar dysfunction, and long disease duration.