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Introduction: Musculoskeletal-related chronic pain is one of the most disabling in the world, with knee osteoarthrosis (OA) being one of the main causes of functional limitation and chronic pain among people over 45 years of age. In view of this, the expansion of telehealth services, including telerehabilitation, allows less restricted access to health services, reducing expenses and saving time., Purpose: The aim of the study was to verify the barriers to the implementation of telerehabilitation in the treatment of chronic musculoskeletal diseases compared to face-to-face rehabilitation., Data Source: The data were obtained from PubMed, Scopus, the Virtual Health Library (VHL), Cochrane, and the Web of Science databases., Methods: This systematic review followed PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines to answer the PICOT question, "What are the barriers to implementing a telerehabilitation program for older people with knee osteoarthritis?". The risk of bias was analyzed using the Review Manager program (RevMan). A search for articles was conducted and included only randomized clinical trials with older people with knee OA, selected by two blinded authors, according to inclusion and exclusion criteria, without publication time restriction, in the PROSPERO registry CRD42022316488., Results: The barriers to telerehabilitation have been overcome with the diversification of means of communication, the various possible ways of monitoring these patients from a distance, and the scheduling of face-to-face assessments and reassessments. The results presented in this review indicate that the barriers to implementing treatment protocols have been overcome, leading to clinical results which showed that there were no differences between the telerehabilitation and face-to-face groups for the clinical condition investigated., Conclusion: The barriers to telerehabilitation, which were more related to Internet access, telecommunication devices, personal relationships, and adequate monitoring of the exercise protocol, were overcome by diversifying the means of communication and delivering the exercise protocol for the implementation of telerehabilitation., Competing Interests: The authors declare that there is no conflict of interest., (© 2023 The Author(s). Published by S. Karger AG, Basel on behalf of NOVA National School of Public Health.)

Background: The Pierre Robin Sequence presents heterogeneous symptoms, and each newborn can manifest from mild breathing and feeding difficulties to severe complications, as well as a predisposition to present changes in growth and neuropsychomotor development in the first years of life., Objective: The aims were to evaluate and associate the neuropsychomotor development of zero- to 12-month-old children with Pierre Robin sequence (PRS) in the personal-social, fine motor-adaptive, language, and gross motor aspects., Methods: The subjects of the study were 17 infants of both sexes with PRS admitted to the special care unit (SCU) of a reference hospital in the interior of the state of São Paulo, Brazil, in the age range of 20 days to 263 days. Developmental assessments were performed using the Denver Development Screening Test II. The evaluations were carried out in the SCU, with duration of 30 minutes each. Statistical analysis was descriptive using the Mann-Whitney test, two-proportion equality test, and Spearman correlation. The level of significance was set at 0.05., Results: According to Denver Development Screening Test II, median 78.5 of the babies were at risk for developmental delay identified by the Denver II Test (n = 14, 82.4%). For the developmental areas analyzed by the test there was statistically significant difference in language area., Conclusion: The babies aged up to 12 months with PRS in this study presented risks for delay in neuropsychomotor development in language, gross motor, fine motor-adaptive, and personal-social aspects, and this finding should be considered to set goals in family orientation and intervention., (Copyright © 2023 Elsevier Inc. All rights reserved.)

Background: Obstructive sleep apnea (OSA) is associated with a negative impact on neurocognitive development in children. Receptive/expressive oral language is a complex process, with limited investigations on the repercussion of OSA. This study aimed to analyze receptive and expressive oral language skills in children with obstructive sleep apnea (OSA)., Methodology: This study included 52 children (27 females, 51.92 %) with a mean age of 7 ± 2 years (age range of 4-11 years), which underwent type 3 polysomnography (PSG). The participants were divided into N-OSA (n = 16) and OSA (n = 36) groups based on the apnea-hypopnea index. The speech-language therapist evaluated hearing and oral language for phonology, expressive semantics, syntax, receptive semantics (Peabody Image Vocabulary Test), pragmatics, and understanding of verbal instructions (Token Test)., Results: Oral language assessments showed a difference in the pragmatics subsystem (p = 0.047), with positive correlation between OSA severity and oral language functions such as pragmatics and syntax (desaturation index, p = 0.045)., Conclusion: Obstructive sleep apnea (OSA) had a negative impact on oral language skills, including the syntax and pragmatics subsystems., (Copyright © 2022 Elsevier Ltd. All rights reserved.)

Objectives: to investigate auditory and language skills in children with repaired cleft lip and palate., Methods: The sample was composed of 22 children registered at the hospital where the study was conducted, seven to nine years old, 50% being female, with repaired unilateral cleft lip and palate (right or left), without associated malformations. Auditory skills were assessed using four central auditory processing tests: Random Gap Detection Test, Dichotic Digit Test, Dichotic Non-Verbal Test, Sustained Auditory Attention Ability Test. Language performance was evaluated by four standardized instruments: Illinois Psycholinguistic Skills Test, Peabody Picture Vocabulary Test, Token Test and Phonological Skills Profile. The association between auditory and language skills was evaluated by the Fisher exact test at a significance level of 5% (p<.05)., Results: The central auditory processing tests evidenced that only one child presented adequate performance in all skills analysed, five children presented impaired performance in all skills, and 16 exhibited deteriorations in one to three auditory skills, highlighting that temporal resolution was the most impaired skill (81%). Concerning language, three children presented adequate performance in all tests applied, and Visual Association and Auditory Association were the most impaired skills (40%). No association was observed between deteriorations in auditory and language skills., Conclusion: There was high occurrence of impairment of auditory skills, which compose the central auditory processing, as well as of language skills, with greatest impairment of receptive language., (Copyright © 2021 Sociedad Española de Otorrinolaringología y Cirugía de Cabeza y Cuello. Published by Elsevier España, S.L.U. All rights reserved.)

Introduction  The use of auditory behavioral tests, which specifically assess sustained attention, is necessary, due to its relationship with learning, language production, cognitive development and school performance. Objective  To evaluate how children performed using software developed to investigate the ability of sustained auditory attention, and to compare the scores obtained in this format with those of the original, non-computerized test. Methods  This cross-sectional study included 52 children of both genders, aged 6 to 11 years, with normal hearing and no history of complaints regarding inattention and/or hyperactivity. The computerized test was administered to all 52 children. The total error score (inattention and impulsivity) and the vigilance decrement were used to define the children's performance when using the software. The scores obtained in the two formats (computer software and original on compact disc) were then compared. Results  Statistically significant differences were found in the scores for innattention, impulsivity, and total error score (inattention and impulsivity) when comparing genders, and a negative correlation coefficient was found when comparing ages. Increased scores were found for all variables of the sustained auditory attention ability test (SAAAT) compared with the original format. Conclusion  Females performed worse than males in all aspects except for vigilance decrement when using the SAAAT software developed to evaluate the ability of SAAAT vigilance; younger children made more errors when using the SAAAT software; inattention errors were more frequent than impulsivity. Overall, higher values were obtained using the SAAAT software, when compared with the original version., Competing Interests: Conflict of Interests The authors have no conflict of interests to declare., (Fundação Otorrinolaringologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commecial purposes, or adapted, remixed, transformed or built upon. ( https://creativecommons.org/licenses/by-nc-nd/4.0/ ).)

Importance: Cleft lip and palate (CLP) is globally among the most common childhood malformations. This disorder impacts childhood development, including speech and language, and affects children worldwide., Objective: To analyze child development skills (adaptive fine motor, gross motor, personal-social, and language) in preschool children with isolated CLP compared with children without this malformation., Methods: The participants included an experimental group of 27 children with isolated CLP and a comparison group of 27 children without CLP aged between 48 and 59 months. The groups were evaluated using two instruments: the Denver Developmental Screening Test II (DDST-II) and the Avaliação do Desenvolvimento da Linguagem (ADL-Language Development Assessment). Data were analyzed by descriptive and inductive analyses, using the Student's t -test and the Mann-Whitney test, at a significance level of P ˂ 0.05., Results: All children in the comparison group performed within normal standards for their age range in the DDST-II and the ADL. The worst performance in the experimental group was observed in language skills, followed, in declining order, by adaptive fine motor, personal-social, and gross motor as measured by the DDST-II. Children with isolated CLP also performed poorly in receptive, expressive, and global language in the ADL. No statistically significant differences were observed in the experimental group's scores for the ADL and the DDST-II., Interpretation: Developmental skill levels were below expectations for children of this age with isolated CLP., Competing Interests: None., (© 2021 Chinese Medical Association. Pediatric Investigation published by John Wiley & Sons Australia, Ltd on behalf of Futang Research Center of Pediatric Development.)

Objectives: to investigate auditory and language skills in children with repaired cleft lip and palate., Methods: The sample was composed of 22 children registered at the hospital where the study was conducted, seven to nine years old, 50% being female, with repaired unilateral cleft lip and palate (right or left), without associated malformations. Auditory skills were assessed using four central auditory processing tests: Random Gap Detection Test, Dichotic Digit Test, Dichotic Non-Verbal Test, Sustained Auditory Attention Ability Test. Language performance was evaluated by four standardized instruments: Illinois Psycholinguistic Skills Test, Peabody Picture Vocabulary Test, Token Test and Phonological Skills Profile. The association between auditory and language skills was evaluated by the Fisher exact test at a significance level of 5% (p<.05)., Results: The central auditory processing tests evidenced that only one child presented adequate performance in all skills analysed, five children presented impaired performance in all skills, and 16 exhibited deteriorations in one to three auditory skills, highlighting that temporal resolution was the most impaired skill (81%). Concerning language, three children presented adequate performance in all tests applied, and Visual Association and Auditory Association were the most impaired skills (40%). No association was observed between deteriorations in auditory and language skills., Conclusion: There was high occurrence of impairment of auditory skills, which compose the central auditory processing, as well as of language skills, with greatest impairment of receptive language., (Copyright © 2021 Sociedad Española de Otorrinolaringología y Cirugía de Cabeza y Cuello. Publicado por Elsevier España, S.L.U. All rights reserved.)

Introduction: Children born with cleft lip and palate (CLP) are exposed to several risk factors for developmental delay., Methods: This cross-sectional and descriptive study compared the performance of gross motor, adaptive fine motor, social-personal and language skills in children with non-syndromic cleft lip and palate (age = 36-47 months, n = 30) matched as to chronological age and gender. The evaluation instruments were Denver Developmental Screening Test II and MacArthur Communicative Development Inventory - part D, employed for the receptive and expressive vocabulary checklist. Intergroup comparisons were performed using t tests and Chi-square tests. The Pearson correlation coefficient was used to verify the inter-category correlation (p ≤ 0.05)., Results: There was statistically significant difference in gross motor, adaptive fine motor, and language skills, both in receptive and expressive aspects, in the comparison between groups. In the personal-social area, children with CLP presented performance below the expected, without statistically significant difference between groups., Conclusions: Children with CLP are at risk for developmental disorders and should be monitored from early childhood to minimize the deleterious effects of this risk condition., (Copyright © 2018 Elsevier B.V. All rights reserved.)

Objective: The objective of this study was to evaluate and compare the performance of children in preschool age who were born premature and term, without neurological injury, regarding receptive and expressive language skills, and to reflect on the importance of these skills for performance in preschool., Materials and Methods: Two groups named Preterm Group and Comparison Group, each composed by 40 children, as well as 80 legal representatives (mothers) and 80 teachers of the participants. To pair the groups, we considered chronological age (months), sex, educational level, type of school (public or private) and socioeconomic status. To assess the groups we used structured and semi-structured Observation of Communicative Behavior and applied the ABFW Child Language Test - Part B-Vocabulary and the Peabody Picture Vocabulary Test. To assess the legal representatives we applied an anamnesis questionnaire and the MacArthur Communicative Development Inventory. The assessment of the teachers consisted of the MacArthur Communicative Development Inventory and a Student Assessment Protocol developed by the authors., Results: For the observation of communicative behavior, the categories with the highest losses were: narrative, maintaining dialogic activities and attention difficulties. In the ABFW Child Language Test and Peabody Picture Vocabulary Test there were statistically significant differences. In the MacArthur Communicative Development Inventory there were statistically significant differences in expressive vocabulary, but no differences in receptive vocabulary, for both the mothers and the teachers., Conclusion: Children born prematurely with low risk of neurological sequelae in preschool age may have greater difficulties in linguistic performance than their peers born to term.

Introduction  Several studies show correlations between congenital toxoplasmosis and hearing loss, with a broad diversity of levels of hearing loss and specifications of hearing disorders. Objective  To describe the studies found in the literature regarding hearing disorders in congenital toxoplasmosis. Data Synthesis  A literature review was conducted on the Lilacs, SciELO, PubMed and Scopus databases by combining the following keywords: congenital toxoplasmosis and hearing . Based on this search strategy, 152 papers were found, the majority published on the Scopus and PubMed databases from 1958 to 2015. After the application of the inclusion criteria, 8 articles published between 1980 and 2015 were included in the present study. Conclusion  This review showed a moderate evidence of the association between hearing disorders and congenital toxoplasmosis, which is characterized by sensorineural hearing loss. However, there are gaps in the description of the specific characteristics of the type and level of hearing loss, or of other possible disorders involved in the auditory processing.

Objective: To determine the effects of a phonological remediation reading and writing program in individuals with dyslexia, through behavioral and objective evaluations., Patients and Methods: Twenty children diagnosed with dyslexia, aged 8-14 years, were included in this study. Group I (GI) was composed of 10 children who took part in the program, and group II (GII) consisted of 10 subjects who did not take the remediation. The pre-testing evaluated phonological awareness, rapid naming, working memory, reading and writing of words and nonwords, thematic writing, and auditory evoked potential - P300. The type of stimulus used was the speech (20% of rare stimulus and 80% of frequent stimulus), intensity of 80 dBNa. The rare stimulus was the syllable /da/, and the frequent stimulus was the syllable /ba/. Next, the Phonological Reading and Writing Remediation Program was applied in 24 cumulative sessions, twice a week, each with a duration of 30 min. In the post-testing (at the end of the program), all the tests of the pre-testing were reapplied., Results: There was a statistically significant difference (between pre- and post-testing) in phonological awareness, rapid naming, working memory, thematic writing, writing and reading words and nonwords, as well as in the latency of the P3 component of P300 in GI, while GII maintained the same difficulties., Conclusion: The phonological remediation program showed to be a therapeutic method of fast beneficial effects in written language of individuals with dyslexia. However, the wide age range and the size of the sample could be considered a limitation of this study - it interferes with the generalization of results., (© 2018 S. Karger AG, Basel.)

Introduction  Cleft lip and cleft palate can result in impairments in communication, specifically in hearing, making the use of technological resources such as blogs a fundamental guideline for health professionals. Objective  The aim of this study was to prepare and analyze the access to a blog about cleft lip and cleft palate and hearing as a pedagogical tool for health professionals. Methods  The first stage for the development of the blog was the selection of the content that would be addressed and the respective illustrations. The second stage was making the blog available through the WordPress platform, and the third stage included the evaluation of the blog, of the access to the WordPress statistical features, and of the quality of the blog through the Emory questionnaire, which was answered by 75 professionals. Results  The blog, titled "Fissure and Hearing", was developed with the architecture of a digital information environment containing a system of organization, navigation, labeling and search (first stage). The address hosting the blog was: http://fissuraeaudicao.wordpress.com (second stage). The result of the third stage included 56,269 views of the blog from different countries, and Brazil was the country with the highest viewing. Regarding the assessment by the Emory questionnaire, we found that for most of the major issues, the percentages obtained were or equal to 90%, while the analysis of the scales, navigation and structure presented the lowest scores. Conclusion  The blog was developed and enabled greater access to information available on the web about cleft lip and cleft palate and hearing.

Objective: To characterize patients with syndromic craniosynostosis with respect to their neuropsycholinguistic abilities and to present these findings together with the brain abnormalities., Methods: Eighteen patients with a diagnosis of syndromic craniosynostosis were studied. Eight patients had Apert syndrome and 10 had Crouzon syndrome. They were submitted to phonological evaluation, neuropsychological evaluation and magnetic resonance imaging of the brain. The phonological evaluation was done by behavioral observation of the language, the Peabody test, Token test and a school achievement test. The neuropsychological evaluation included the WISC III and WAIS tests., Results: Abnormalities in language abilities were observed and the school achievement test showed abnormalities in 66.67% of the patients. A normal intelligence quotient was observed in 39.3% of the patients, and congenital abnormalities of the central nervous system were observed in 46.4% of the patients., Conclusion: Abnormalities of language abilities were observed in the majority of patients with syndromic craniosynostosis, and low cognitive performance was also observed.

Introduction: The purpose of this paper was to evaluate and compare the questionnaires regarding sleep quality among children aged up to 12 years old, used in the Portuguese language in Brazil., Material and Methods: A search at the literature databases of Lilacs, Scielo and Pubmed was performed using keywords "sleep quality" and "children". Selected Articles were analysed for age of the studied population, the number of questions and the issues addressed thereby, who realized the application, the analysis of the results, and content., Results: Out of 9377 titles, 11 studies were included, performing 7 different questionnaires: Questionnaire to measure quality of life among children with enlarged palatine and pharyngeal tonsils (translation of OSD-6) (1); Inventory of Sleep Habits for Preschool Children (2); the Questionnaire on Obstructive Sleep Apnoea-18 (OSA-18) (3), Sleep Questionnaire by Reimão and Lefévre - QRL (4); the Questionnaire on Sleep Behaviour Patterns (5) and the translation of the Sleep Disturbance Scale for Children (6); Brief Infant Sleep Questionnaire - BISQ (7) . Six of the questionnaires have covered the following issues: snoring and daytime sleepiness., Conclusions: A total of 7 protocols were found to be available in Brazil, the most commonly mentioned being OSA-18 and OSD-6. The use of protocols as a guided interview helps to define diagnosis and treatment among the paediatric population, but its large variability makes it difficult to compare a standardised monitoring process.

Objectives: To correlate quality of life of children in terms of sleep, with their oral language skills, auditory processing and orofacial myofunctional aspects., Methods: Nineteen children (12 males and seven females, in the mean age 9.26) undergoing otorhinolaryngological and speech evaluations participated in this study. The OSA-18 questionnaire was applied, followed by verbal and nonverbal sequential memory tests, dichotic digit test, nonverbal dichotic test and Sustained Auditory Attention Ability Test, related to auditory processing. The Phonological Awareness Profile test, Rapid Automatized Naming and Phonological Working Memory were used for assessment of the phonological processing. Language was assessed by the ABFW Child Language Test, analyzing the phonological and lexical levels. Orofacial myofunctional aspects were evaluated through the MBGR Protocol. Statistical tests used: the Mann-Whitney Test, Fisher's exact test and Spearman Correlation., Results: Relating the performance of children in all evaluations to the results obtained in the OSA-18, there was a statistically significant correlation in the phonological working memory for backward digits (p = 0.04); as well as in the breathing item (p = 0.03), posture of the mandible (p = 0.03) and mobility of lips (p = 0.04)., Conclusion: A correlation was seen between the sleep quality of life and the skills related to the phonological processing, specifically in the phonological working memory in backward digits, and related to orofacial myofunctional aspects., (Copyright © 2017 Elsevier B.V. All rights reserved.)

Introduction: Children and adolescents with obstructive sleep apnea (OSA) may have consequences, such as daytime sleepiness and learning, memory, and attention disorders, that may interfere in oral language., Objective: To verify, based on the literature, whether OSA in children was correlated to oral language disorders., Methods: A literature review was carried out in the Lilacs, PubMed, Scopus, and Web of Science databases using the descriptors "Child Language" AND "Obstructive Sleep Apnea". Articles that did not discuss the topic and included children with other comorbidities rather than OSA were excluded., Results: In total, no articles were found at Lilacs, 37 at PubMed, 47 at Scopus, and 38 at Web of Science databases. Based on the inclusion and exclusion criteria, six studies were selected, all published from 2004 to 2014. Four articles demonstrated an association between primary snoring/OSA and receptive language and four articles showed an association with expressive language. It is noteworthy that the articles used different tools and considered different levels of language., Conclusion: The late diagnosis and treatment of obstructive sleep apnea is associated with a delay in verbal skill acquisition. The professionals who work with children should be alert, as most of the phonetic sounds are acquired during ages 3-7 years, which is also the peak age for hypertrophy of the tonsils and childhood OSA., (Copyright © 2016 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.)

Purpose: To compare the performance in the abilities of receptive and expressive language of children with cleft lip and palate with that of children without cleft lip and palate with typical 12 to 36-month chronological development., Method: The sample consisted of 60 children aged 12 and 36 months: 30 with cleft lip and palate diagnosis and 30 without cleft lip and palate diagnosis with typical development. The groups were paired according to gender, age (in months), and socioeconomic level. The procedures consisted of analysis of medical records, anamnesis with family members, and valuation of the Early Language Milestone Scale (ELMS). The chart analysis showed 63.34% of the children with unilateral cleft lip and palate, 16.66% with bilateral incisive transforamen cleft, and 20% with post-foramen cleft. Children with cleft lip and palate underwent surgeries (lip repair and/or palatoplasty) at the recommended ages and participated in early intervention programs; 40% presented recurrent otitis history, and 50% attended schools. Statistical analysis included the use of the Mann Whitney test with significance level of p <0.05., Results: There was a statistically significant difference between the groups regarding receptive and expressive skills., Conclusion: The group of children with cleft lip and palate showed statistically significant low performance in receptive and expressive language compared with children without cleft lip and palate.

Apert and Crouzon are the most common craniosynostosis syndromes associated with mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. We conducted a study to examine the molecular biology, brain abnormalities, and cognitive development of individuals with these syndromes. A retrospective longitudinal review of 14 patients with Apert and Crouzon syndromes seen at the outpatient Craniofacial Surgery Hospital for Rehabilitation of Craniofacial Anomalies in Brazil from January 1999 through August 2010 was performed. Patients between 11 and 36 years of age (mean 18.29 ± 5.80), received cognitive evaluations, cerebral magnetic resonance imaging, and molecular DNA analyses. Eight patients with Apert syndrome (AS) had full scale intelligence quotients (FSIQs) that ranged from 47 to 108 (mean 76.9 ± 20.2), and structural brain abnormalities were identified in five of eight patients. Six patients presented with a gain-of-function mutation (p.Ser252Trp) in FGFR2 and FSIQs in those patients ranged from 47 to78 (mean 67.2 ± 10.7). One patient with a gain-of-function mutation (p.Pro253Arg) had a FSIQ of 108 and another patient with an atypical splice mutation (940-2A →G) had a FSIQ of 104. Six patients with Crouzon syndrome had with mutations in exons IIIa and IIIc of FGFR2 and their FSIQs ranged from 82 to 102 (mean 93.5 ± 6.7). These reveal that molecular aspects are another factor that can be considered in studies of global and cognitive development of patients with Apert and Crouzon syndrome (CS). © 2016 Wiley Periodicals, Inc., (© 2016 Wiley Periodicals, Inc.)

With the high occurrence of genetic anomalies in Brazil and the manifestations of communication disorders associated with these conditions, the development of educative actions that comprise these illnesses can bring unique benefits in the identification and appropriate treatment of these clinical pictures. Objective The aim of this study was to develop and analyze an educational program in genetic syndromes for elementary students applied in two Brazilian states, using an Interactive Tele-education model. Material and Methods The study was carried out in 4 schools: two in the state of São Paulo, Southeast Region, Brazil, and two in the state of Amazonas, North Region, Brazil. Forty-five students, both genders, aged between 13 and 14 years, of the 9th grade of the basic education of both public and private system, were divided into two groups: 21 of São Paulo Group (SPG) and 24 of Amazonas Group (AMG). The educational program lasted about 3 months and was divided into two stages including both classroom and distance activities on genetic syndromes. The classroom activity was carried out separately in each school, with expository lessons, graphs and audiovisual contents. In the activity at a distance the educational content was presented to students by means of the Interactive Tele-education model. In this stage, the students had access a Cybertutor, using the Young Doctor Project methodology. In order to measure the effectiveness of the educational program, the Problem Situation Questionnaire (PSQ) and the Web Site Motivational Analysis Checklist adapted (FPM) were used. Results The program developed was effective for knowledge acquisition in 80% of the groups. FPM showed a high satisfaction index from the participants in relation to the Interactive Tele-education, evaluating the program as "awesome course". No statistically significant differences between the groups regarding type of school or state were observed. Conclusion Thus, the Tele-Education Program can be used as a tool for educational purposes in genetic syndromes of other populations, in several regions of Brazil.

Background: The creation of new educational strategies based on technology is the essence of telehealth. This innovative learning is an alternative to promote integration and improve the professional practices in speech-language pathology (SLP). The objective of this study was to evaluate an SLP technology designed for distance learning., Materials and Methods: The survey selected fourth-year SLP students (n=60) from three public universities in the state of São Paulo, Brazil. The experimental group (EG) contained 10 students from each university (n=30), and the remaining students formed the control group (CG). Initially, both groups answered a preprotocol questionnaire, and the EG students received the technology, the recommendations, and the deadline to explore the material. In the second stage all students answered the postprotocol questionnaire in order to evaluate the validity and the learning of the technology contents., Results: The comparison between the CG students showed that their performance worsened in the majority in comparison with the EG students, who showed an improved performance., Conclusions: Therefore, this study concluded that the technology instrument actually responded to the population studied and is recommended to complement traditional teaching.

Purpose: To describe the performance of individuals with myelomeningocele regarding psycholinguistic and scholastic abilities., Methods: Participants were five individuals with myelomeningocele and lumbar sacral abnormalities, and chronological age between 9 years and 10 months and 11 years and 7 months (Group 1 - G1); five subjects with typical development (Group 2 - G2), matched to G1 for age, gender, and educational level. The evaluation consisted of interview with parents/caregivers, and application of the following tests: Illinois Test of Psycholinguistic Abilities (ITPA); School Performance Test; Speed Reading Test; and Rapid Automatized Naming Test., Results: The between-groups comparison in the ITPA subtests showed that the maximum values obtained by G1 corresponded approximately to the minimum values obtained by G2, confirming the difference between the groups, except for the auditory closure subtest. In the Scholastic Performance Test, significant alterations were observed on the performance of G1 in all tasks. In the Speed Reading and Rapid Automatized Naming tests, individuals in G1 also presented considerable deficits, making more mistakes and spending more time than G2 to perform the same tasks., Conclusion: Individuals with myelomeningocele present deficits in psycholinguistic abilities, school performance, reading speed, and rapid automatized naming.

We reported on 16 new Brazilian patients and review findings in 12 previously reported cases (25 apparently unrelated Brazilian families) from Hospital of Rehabilitation of Craniofacial Anomalies, presenting with Richieri-Costa-Pereira syndrome. All patients display a unique pattern of anomalies consisting of microstomia, micrognathia, abnormal fusion of mandible, cleft palate/Robin sequence, absence of central lower incisors, minor ears anomalies, hypoplastic first ray, abnormal tibiae, hypoplastic halluces, and clubfeet. Learning disability was also a common finding. The sex-ratio showed deviation toward to female (1.8F:1M). Recurrence in sibs was observed in nine instances and consanguinity in 11, supporting the hypothesis of autosomal recessive inheritance. Nineteen of the 25 families lived in São Paulo State, seven of them (10 affected individuals) from an isolated region named "Vale do Ribeira." The geographic barrier of this region associated with the high incidence of the consanguineous matting suggested that this condition is caused by a rare mutation with a founder effect. With the exception of one patient in France, all known cases are of Brazilian origin. The causative gene of this rare syndrome remains unknown., (Copyright © 2010 Wiley-Liss, Inc.)

Speech and language disorders are some of the most common referral reasons to child development centers accounting for approximately 40% of cases. Stuttering is a disorder in which involuntary repetition, prolongation, or cessation of the sound precludes the flow of speech. About 5% of individuals in the general population have a stuttering problem, and about 80% of the affected children recover naturally. The causal factors of stuttering remain uncertain in most cases; studies suggest that genetic factors are responsible for 70% of the variance in liability for stuttering, whereas the remaining 30% is due to environmental effects supporting a complex cause of the disorder. The use of high-resolution genome wide array comparative genomic hybridization has proven to be a powerful strategy to narrow down candidate regions for complex disorders. We report on a case with a complex set of speech and language difficulties including stuttering who presented with a 10 Mb deletion of chromosome region 7q33-35 causing the deletion of several genes and the disruption of CNTNAP2 by deleting the first three exons of the gene. CNTNAP2 is known to be involved in the cause of language and speech disorders and autism spectrum disorder and is in the same pathway as FOXP2, another important language gene, which makes it a candidate gene for causal studies speech and language disorders such as stuttering., (© 2010 Wiley-Liss, Inc.)

Objective: To describe the clinical, speech, hearing, and imaging findings in three members of a Brazilian family with Saethre-Chotzen syndrome (SCS) who presented some unusual characteristics within the spectrum of the syndrome., Design: Clinical evaluation was performed by a multidisciplinary team. Direct sequencing of the polymerase chain reaction-amplified coding region of the TWIST1 gene, routine and electrophysiological hearing evaluation, speech evaluation, and imaging studies through computed tomography (CT) scan and magnetic resonance imaging (MRI) were performed., Results: TWIST1 gene analysis revealed a Pro136His mutation in all patients. Hearing evaluation showed peripherial and mixed hearing loss in two of the patients, one of them with severe unilateral microtia. Computed tomography scan showed structural middle ear anomalies, and MRI showed distortion of the skull contour as well as some of the brain structures., Conclusions: We report a previously undescribed TWIST1 gene mutation in patients with SCS. There is evidence that indicates hearing loss (conductive and mixed) can be related both with middle ear (microtia, high jugular bulb, and enlarged vestibules) as well as with brain stem anomalies. Here we discuss the relationship between the gene mutation and the clinical, imaging, speech, and hearing findings.

Unlabelled: Cleft palates cause alterations in palate and lip structures, and it may also cause hearing loss because of recurrent otitis media. The appropriate treatment is controversial. It may include the prescription of antibiotics and insertion of a ventilation tube, or even otorhinolaryngological and audiological assistance, and hearing rehabilitation, with the use of an individual sound amplifier aid (ISAA)., Aim: To characterize the profile of individuals with cleft palate and hearing loss, users of ISAA are assisted by the center of otorhinolaryngology and speech therapy of a hospital specialized in craniofacial anomalies and hearing impairment. Retrospective Study., Material and Methods: Retrospective analysis of 131 charts of patients with corrected cleft palate and hearing loss, fitted with ISAA by the center abovementioned., Results: The sample (n=131) was characterized by a prevalence of females (53%), unilateral incisive transforaminal cleft (27%), presence of associated anomalies (51%), history of alterations of the middle ear (56%) and surgery intervention (56%)., Conclusion: The general profile of the individuals with cleft palate and hearing loss, fitted with ISAA, was characterized by the predominance of cleft lip and palate, positive history of middle ear alterations, surgery intervention and bilateral sensorineural hearing loss.

Background: distance learning (DL) is becoming a higher education modality with a meaningful impact. It offers students flexibility, mobility and choices. Also it can reach a greater number of professionals and students in a more effective way, when compared to other learning modalities, without losing quality. Brazil needs to develop direct actions to DL in the fields of Speech-Language Pathology and Hearing, due to its great continental territory (8,514,215.3Km(2)) and irregular distribution of professionals who work in these specific fields (i.e. this situation emphasizes the differences in quality and availability of services offered throughout the country). Heterogeneity in the quality and availability of services is also aggravated by the absence of a national strategy for continued education in order to recycle health professionals. This situation causes important differences in the knowledge and abilities of specialists from one region to the next., Aim: to present Telehealth studies in the field of Speech-Language Pathology and Hearing that were developed in the last five years., Conclusion: the analyzed data indicate that more studies are needed in this specific field. These studies should aim at improving the quality and access to services which in turn would improve prevention, diagnosis and treatment of communication disorders.

We report on the clinical, neuropsychological and language characteristics of a boy with left ventricular noncompaction cardiomyopathy (LVNC), agenesis of the splenium of the corpus callosum, minor anomalies of face and limbs, mild mental retardation, and speech and language disabilities. The occurrence of pilomatricoma (calcifying epithelioma) may be part of the clinical spectrum or a fortuitous finding. Compared to other related conditions with LVNC suggests that this is a "new" unique pattern MCA/MR syndrome.

Unlabelled: The first two years of life are critical for the acquisition and development of hearing and speaking skills., Aim: This prospective study aims to verify the performance of infants with cleft lip and palate (CLP) with and without risk factors for hearing (RFH) in the verbal recognition test (VRT)., Material and Method: The parents of 100 infants (9 to 18 months of age) with CLP were interviewed to investigate the presence of RFH and to sort out the characteristics of the study groups. All infants underwent VRT., Results: Otologic diseases, lack of breastfeeding, parental smoking, upper airway insufficiency, stay in an incubator, and family history of hearing impairment were the most frequent RFH. Eighty-five infants had RFH, among which 40% had altered VRT results; fifteen did not have any RFH and 73% performed as expected for their age range in the VRT. There was no significant difference (p=0.326) between groups. Fifty-four infants had history of otitis media (OM), among which 31% had altered VRT results; forty-six had no history of OM and performed as expected for their age range in the VRT; Statistically significant difference (p=0.000) was found., Conclusion: Other risk factors for hearing aside CLP were found. Infants with and without history of RFH performed similarly in the VRT. The presence of otologic diseases significantly interfered with the VRT.

Here, we evaluate linguistic skills and neuropsychological performance in a sample of patients with SHH mutations and a holoprosencephaly (HPE)-like phenotype, a minor form of classic HPE. Our findings suggest that patients with SHH mutations and a HPE-like phenotype have normal cognitive ratios and significant language impairment. Imaging evaluation by magnetic resonance imaging (MRI) was normal in three patients and in one there was hypoplasia of the anterior commissure and the presence of a temporal cyst, apparently not related to the clinical findings.