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BACKGROUND: Information about the development of cognitive skills and the effect of sensory integration in children using auditory brainstem implants (ABIs) is still limited. OBJECTIVE: This study primarily aims to investigate the relationship between sensory processing skills and attention and memory abilities in children with ABI, and secondarily aims to examine the effects of implant duration on sensory processing and cognitive skills in these children. METHODS: The study included 25 children between the ages of 6 and 10 years (mean age: 14 girls and 11 boys) with inner ear and/or auditory nerve anomalies using auditory brainstem implants. Visual-Aural Digit Span Test B, Marking Test, Dunn Sensory Profile Questionnaire were applied to all children. RESULTS: The sensory processing skills of children are statistically significant and positive, and moderately related to their cognitive skills. As the duration of implant use increases, better attention and memory performances have been observed (p < .05). CONCLUSION: The study demonstrated the positive impact of sensory processing on the development of memory and attention skills in children with ABI. It will contribute to evaluating the effectiveness of attention, memory, and sensory integration skills, and aiding in the development of more effective educational strategies for these children.
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Atenção , Implantes Auditivos de Tronco Encefálico , Cognição , Humanos , Feminino , Criança , Masculino , Cognição/fisiologia , Atenção/fisiologia , Memória/fisiologia , Percepção Auditiva/fisiologiaRESUMO
BACKGROUND: Antigen-specific memory B cells play a key role in the induction of desensitization and remission to food allergens in oral immunotherapy and in the development of natural tolerance (NT). Here, we characterized milk allergen Bos d 9-specific B cells in oral allergen-specific immunotherapy (OIT) and in children spontaneously outgrowing cow's milk allergy (CMA) due to NT. METHODS: Samples from children with CMA who received oral OIT (before, during, and after), children who naturally outgrew CMA (NT), and healthy individuals were received from Stanford biobank. Bos d 9-specific B cells were isolated by flow cytometry and RNA-sequencing was performed. Protein profile of Bos d 9-specific B cells was analyzed by proximity extension assay. RESULTS: Increased frequencies of circulating milk allergen Bos d 9-specific B cells were observed after OIT and NT. Milk-desensitized subjects showed the partial acquisition of phenotypic features of remission, suggesting that desensitization is an earlier stage of remission. Within these most significantly expressed genes, IL10RA and TGFB3 were highly expressed in desensitized OIT patients. In both the remission and desensitized groups, B cell activation-, Breg cells-, BCR-signaling-, and differentiation-related genes were upregulated. In NT, pathways associated with innate immunity characteristics, development of marginal zone B cells, and a more established suppressor function of B cells prevail that may play a role in long-term tolerance. The analyses of immunoglobulin heavy chain genes in specific B cells demonstrated that IgG2 in desensitization, IgG1, IgA1, IgA2, IgG4, and IgD in remission, and IgD in NT were predominating. Secreted proteins from allergen-specific B cells revealed higher levels of regulatory cytokines, IL-10, and TGF-ß after OIT and NT. CONCLUSION: Allergen-specific B cells are essential elements in regulating food allergy towards remission in OIT-received and naturally resolved individuals.
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BACKGROUND: Major Histocompatibility Complex Class II (MHC-II) deficiency, a combined immunodeficiency, results from loss of Human Leukocyte Antigen class II expression on antigen-presenting cells. Currently, hematopoietic stem cell transplantation (HSCT) stands as the sole curative approach, though factors influencing patient outcomes remain insufficiently explored. OBJECTIVE: Our aim was to elucidate the clinical, immunological, and genetic profiles associated with MHC-II deficiency and identify prognostic indicators that affect survival rates. METHODS: In this multicenter retrospective analysis, we gathered data from 35 patients diagnosed with MHC-II deficiency across 12 centers in Turkey. We recorded infection histories, gene mutations, immune cell subsets, and surface MHC-II expression on blood cells. We conducted survival analyses to evaluate the impact of various factors on patient outcomes. RESULTS: Predominant symptoms observed were pneumonia (n=29, 82.9%), persistent diarrhea (n=26, 74.3%), and severe infections (n=26, 74.3%). The RFXANK gene mutation (n=9) was the most frequent, followed by mutations in RFX5 (n=8), CIITA (n=4), and RFXAP (n=2) genes. Patients with RFXANK mutations presented with later onset and diagnosis compared to those with RFX5 mutations (p=0.0008 and p=0.0006, respectively), alongside a more significant diagnostic delay (p=0.020). A notable founder effect was observed in 5 patients with a specific RFX5 mutation (c.616G>C). The overall survival rate for patients was 28.6% (n=10), showing a significantly higher proportion in individuals with HSCT (n=8, 80%). Early demise (p=0.006) and higher CD8+ T-cell counts were observed in patients with the RFX5 mutations compared to RFXANK-mutant patients (p=0.006 and p=0.009, respectively). CONCLUSION: The study delineates the genetic and clinical panorama of MHC-II deficiency, emphasizing the prevalence of specific gene mutations such as RFXANK and RFX5. These insights facilitate early diagnosis and prognosis refinement, significantly contributing to the management of MHC-II deficiency.
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BACKGROUND: Artemis deficiency is an autosomal recessive disorder characterized by a combined immunodeficiency with increased cellular radiosensitivity. In this review, the clinical and genetic characteristics of 15 patients with DCLRE1C variants are presented. METHODS: The demographic, clinical, immunologic, and genetic characteristics of patients with confirmed DCLRE1C variants diagnosed between 2013 and 2023 were collected retrospectively. Three patients were evaluated for radiosensitivity by the Comet assay, compared with age- and sex-matched healthy control. RESULTS: Seven patients who had severe infections in the first 6 months of life were diagnosed with T-B-NK+ SCID (severe combined immunodeficiency). Among them, four individuals underwent transplantation, and one of those died due to post-transplant complications in early life. Eight patients had hypomorphic variants. Half of them were awaiting a suitable donor, while the other half had already undergone transplantation. The majority of patients were born into a consanguineous family (93.3%). Most patients had recurrent sinopulmonary infections (73.3%), and one patient had no other infection than an acute respiratory infection before diagnosis. Two patients (13.3%) had autoimmunity in the form of autoimmune hemolytic anemia. Growth retardation was observed in only one patient (6.6%), and no malignancy was detected in the surviving 11 patients during the median (IQR) of 21.5 (12-45) months of follow-up. Three patients who had novel variants exhibited increased radiosensitivity and compromised DNA repair, providing a potential vulnerability to malignant transformation. CONCLUSION: Early diagnosis, radiation avoidance, and careful preparation for transplantation contribute to minimizing complications, enhancing life expectancy, and improving the patient's quality of life.
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Proteínas de Ligação a DNA , Tolerância a Radiação , Imunodeficiência Combinada Severa , Humanos , Tolerância a Radiação/genética , Masculino , Feminino , Imunodeficiência Combinada Severa/genética , Imunodeficiência Combinada Severa/terapia , Lactente , Proteínas de Ligação a DNA/genética , Pré-Escolar , Estudos Retrospectivos , Endonucleases/genética , Proteínas Nucleares/genética , Criança , Estudos de CoortesRESUMO
PURPOSE: The purpose of this study was to investigate the relations between functional hearing, language, social, bilateral coordination and manual dexterity skills in children with early cochlear implants (CIs). METHODS: Thirty children with CIs were included in this study. The manual dexterity and bilateral coordination development of the participants were evaluated with Manual Dexterity and Bilateral Coordination subtests of Bruininks-Oseretsky Motor Proficiency-2 (BOT-2). Their language skills were assessed by the Test of Early language Development-3. To assess the functional hearing of participants the Functioning After Pediatric Cochlear Implantation scale (FAPCI) was administered their caregivers. Also, the Social Skills Evaluation Scale was administered to participants' teachers to asses their social skills. RESULTS: There were significant correlations between participants' receptive and expressive language skills, Manual Dexterity, and FAPCI scores (p < 0.05). There were also significant relationships between the SSES and FAPCI scores of the participants (p < 0.05). However, the Bilateral Coordination subtest did not show any significant correlation with any of the measurements (p > 0.05). CONCLUSION: The results suggest that the language, manual dexterity and functional hearing abilities of children with CIs are closely related. Although, there were no significant correlations between all of the measurement, it is important to look beyond hearing and speech evaluations to assess the whole child.
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PURPOSE: This study aims to evaluate school-age language skills and auditory performance in different listening situations in children with cochlear implants and auditory brainstem implants. METHOD: The study included 60 children between the ages of 5 and 9 years with cochlear implants (CI) and auditory brainstem implants (ABI). The volunteer children were divided into two groups: bimodal CI-ABI and bilateral CI users. Test of Language Development: Primary (TOLD-P:4), which assesses components of language such as phonology, morphology, syntax and semantics, was used to evaluate school-age language skills. Children's Auditory Performance Scale (CHAPS) was used to measure their listening performance in quiet, noisy, multi-stimulus environments and their auditory attention and memory skills in daily life. The correlations between language and auditory performance were analyzed and compared between the two groups. RESULTS: Children with ABI showed poorer performance in school-age language skills and auditory performance in different listening environments (p < 0.05). Significant correlations were between school-age language skills and auditory performance (p < 0.05). CONCLUSION: Improved auditory performance is crucial for the development of school-age language skills. To improve auditory performance in children with ABI in different listening environments, assistive listening devices, acoustic environmental arrangements, informative activities, etc., should be used.
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Implantes Auditivos de Tronco Encefálico , Implantes Cocleares , Desenvolvimento da Linguagem , Humanos , Criança , Feminino , Masculino , Pré-Escolar , Percepção Auditiva/fisiologia , Percepção da Fala/fisiologia , Surdez/cirurgia , Surdez/reabilitação , Surdez/fisiopatologiaRESUMO
OBJECTIVE: This study aimed to investigate the validity and reliability of the Turkish version of the Children's Home Inventory for Listening Difficulties - (C.H.I.L.D) questionnaire. METHODS: The study included 121 children with cochlear implants and their families aged 3-12 years and 171 children with normal hearing and their families. Confirmatory factor analysis (C.F.A.) was used to assess construct validity, Cronbach's alpha was used to analyze internal consistency and test-retest reliability was also investigated. RESULTS: The reliability coefficients of the entire C.H.I.L.D family member (C.H.I.L.D-FM) and children version (C.H.I.L.D-C) were 0.983, 0.978, and Cronbach's coefficients were 0.992, 0.992, and the corrected item-total correlations increased from 0.989 to 0.994 and from 0.988 to 0.994, respectively. The scale's construct validity was excellent, according to the CFA analyses. The goodness-of-fit indexes (for the parent's version 0.892 and for the child's version 0.867) demonstrated a good fit for the single-factor construct, with only the normed fit index revealing an acceptable fit. CONCLUSION: The Turkish version of the C.H.I.L.D is a reliable and valid evaluation test for children and their family members.
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PURPOSE: The purpose of this study was to compare the language, cognitive, and speech in noise (SiN) perception abilities of children with cochlear implants (CIs) to those of their peers with NH by grouping them according to their implantation period (12-18 months/19-24 months) and unilateral/bilateral CI use. METHODS: The sample comprised 50 children with cochlear implants (CIs) and 20 children with normal hearing (NH), ages 6-9 years. Children's language, cognitive, and speech in noise (SiN) perception skills were assessed. RESULTS: Children with CIs between 12 and 18 months and 19 and 24 months performed more poorly than children with NH on language, verbal memory (VM), verbal-short-term memory (V-STM), verbal working memory (V-WM), rapid naming, and speech in noise (SiN) perception abilities measures (p < 0.001). In addition, children with CIs between 19 and 24 months performed worse on rapid naming and V-WM tasks than children with CIs between 12 and 18 months (p < 0.017). Children with unilateral and bilateral CI performed more poorly than children with NH on language, VM, V-STM, V-WM, rapid naming, and SiN perception abilities assessments (p < 0.001). Additionally children with unilateral CI users performed poorly than children with bilateral CI users on SiN perception (p < 0.017). CONCLUSIONS: In children with congenital hearing loss (CHL), cochlear implantation between 12 and 18 months or sequential bilateral implantation is not sufficient for these children to perform like their NH peers in language, cognitive, and SiN perception abilities. In addition, intervention approaches should focus not only on increasing language skills, but also on cognitive abilities.