Childhood-onset systemic lupus erythematosus (cSLE) and malignancy: a nationwide multicentre series review

Abstract Background Increased malignancy frequency is well documented in adult-systemic lupus erythematosus (SLE), but with limited reports in childhood-onset SLE (cSLE) series. We explored the frequency of malignancy associated with cSLE, describing clinical and demographic characteristics, disease activity and cumulative damage, by the time of malignancy diagnosis. Method A retrospective case-notes review, in a nationwide cohort from 27 Pediatric Rheumatology centres, with descriptive biopsy-proven malignancy, disease activity/damage accrual, and immunosuppressive treatment were compiled in each participating centre, using a standard protocol. Results Of the 1757 cSLE cases in the updated cohort, 12 (0.7%) developed malignancy with median time 10 years after cSLE diagnosis. There were 91% females, median age at cSLE diagnosis 12 years, median age at malignancy diagnosis 23 years. Of all diagnosed malignancies, 11 were single-site, and a single case with concomitant multiple sites; four had haematological (0.22%) and 8 solid malignancy (0.45%). Median (min-max) SLEDAI-2 K scores were 9 (0-38), median (min-max) SLICC/ACR-DI (SDI) score were 1 (1-5) Histopathology defined 1 Hodgkin's lymphoma, 2 non-Hodgkin's lymphoma, 1 acute lymphoblastic leukaemia; 4 gastrointestinal carcinoma, 1 squamous cell carcinoma of the tongue and 1 anal carcinoma; 1 had sigmoid adenocarcinoma and 1 stomach carcinoid; 3 had genital malignancy, being 1 vulvae, 1 cervix and 1 vulvae and cervix carcinomas; 1 had central nervous system oligodendroglioma; and 1 testicle germ cell teratoma. Conclusion Estimated malignancy frequency of 0.7% was reported during cSLE follow up in a multicentric series. Median disease activity and cumulative damage scores, by the time of malignancy diagnoses, were high; considering that reported in adult series.

Terapia fonoaudiológica intensiva com adultos que gaguejam: estudo preliminar / Intensive speech-language pathology therapy with adults who stutter: preliminary study

RESUMO Objetivo Comparar os resultados da fluência e da autopercepção do impacto da gagueira na vida de adultos que gaguejam, antes e depois de terapia fonoaudiológica intensiva. Método Trata-se de estudo descritivo longitudinal com coleta de dados antes e após terapia fonoaudiológica intensiva de quatro pacientes com gagueira. O programa de terapia intensiva constituiu-se em trinta encontros, de uma hora cada, realizados em cinco sessões individuais na semana. As amostras de fala coletadas antes e após a terapia foram analisadas por dois juízes especialistas em Fluência. A análise descritiva dos dados foi realizada por meio da distribuição de frequência das variáveis categóricas e análise das medidas de tendência central e de dispersão das variáveis contínuas. A verificação da concordância entre as análises realizadas pelos dois juízes foi realizada por meio do coeficiente de correlação intraclasse (CCI). Foi realizada também a análise de correlação pelo coeficiente de correlação de Spearman, entre as variáveis da amostra de fala e os escores do OASES-A. Resultados Houve redução do percentual de descontinuidade da fala e do percentual de disfluências gagas, aumentando o fluxo de palavras por minuto dos participantes. Na análise descritiva do OASES-A observou-se que em todas as partes do questionário, houve diminuição do grau de impacto da gagueira na vida dos participantes. Conclusão Verificou-se melhora de todas variáveis analisadas após terapia intensiva. Observou-se melhora na fluência da fala e redução do impacto da gagueira na vida dos participantes, sugerindo a relevância da proposta de terapia fonoaudiológica intensiva na gagueira.

ABSTRACT Purpose To compare the results of fluency and self-perception of the impact of stuttering on the lives of adults who stutter, before and after undergoing intensive speech-language pathology therapy. Methods This is a descriptive and longitudinal study with data collection before and after intensive therapy in four patients who stutter. The intensive care program consisted of thirty one-hour sessions held in five individual sessions a week. Speech samples collected before and after therapy were analyzed by two fluency experts. Descriptive data analysis was performed through the frequency distribution of categorical variables and analysis of measures of central tendency and dispersion of continuous variables. The verification of agreement between the evaluations carried out by the two judges was performed using the intraclass correlation coefficient (ICC). Correlation analysis was also performed using Spearman's rank correlation coefficient between the variables in the speech sample and the OASES-A scores. Results There was a reduction of the percentage of stuttering disfluencies, increasing the flow of words per minute of the participants. The descriptive analysis of the OASES-A showed a decrease in the degree of impact of stuttering on the participants' lives in all parts of the questionnaire. Conclusion There was an improvement in all variables analyzed after intensive care, including an improvement in speech fluency and a reduction in the impact of stuttering on the participants' lives, which suggests the relevance of the intensive speech therapy proposal for stuttering.

Perfil da fluência na fala espontânea, leitura e no reconto de textos de adultos que gaguejam / Profile of fluency in spontaneous speech, reading, and retelling of texts by adults who stutter

RESUMO Objetivo descrever o perfil da fluência em relação à tipologia das disfluências, velocidade e frequência de rupturas na fala espontânea, na leitura e no reconto; comparar o perfil da fluência em adultos que gaguejam na fala espontânea, na leitura e no reconto de texto. Método O trabalho é um estudo transversal comparativo com amostra composta por 15 adultos que gaguejam de ambos os sexos, com formação superior ou equivalente ao ensino fundamental II completo. Foram coletadas amostras nas tarefas de fala espontânea, leitura e reconto de texto por meio de video chamadas realizadas individualmente. As 200 primeiras sílabas expressas de cada tarefa foram transcritas e analisadas segundo o Protocolo de Avaliação do Perfil da Fluência (PAPF). O estudo comparou a frequência das disfluências comuns e gagas e a velocidade nas tarefas pesquisadas. Adotou-se o teste de Kruskal & Wallis em conjunto com o de comparações múltiplas de Duncan para comparar as medianas e verificar possíveis diferenças entre as tarefas pesquisadas com nível de significância de 5%. Resultados A tarefa de leitura apresentou menor número de disfluências comuns e percentual de descontinuidade de fala em relação às tarefas de fala espontânea e reconto. Não foram encontradas diferenças estatisticamente significantes entre as disfluências gagas nas três tarefas pesquisadas. Conclusão Este trabalho mostrou que existem diferenças na ocorrência das disfluências comuns - hesitações, interjeições e revisões - e no percentual de descontinuidade de fala durante a leitura oral de adultos que gaguejam em relação à fala espontânea e ao reconto de texto.

ABSTRACT Purpose to describe the profile of fluency concerning the typology of disfluencies, speed, and frequency of disruptions in spontaneous speech, reading, and retelling; to compare the fluency profile in adults who stutter in spontaneous speech, reading, and retelling of text. Methods The present work is a cross-sectional comparative study with a sample composed of 15 adults who stutter of both sexes, with higher education or equivalent to complete elementary school II. Samples were collected in the tasks of spontaneous speech, reading, and text retelling through video calls made individually with the participants. The first 200 syllables expressed in each task were transcribed and analyzed according to the Fluency Profile Assessment Protocol (FPAP). The study compared the frequency of common and stuttering disfluencies and the speed in the different tasks surveyed. The Kruskal & Wallis test was used together with Duncan's multiple comparisons test to compare the medians and verify possible differences between the tasks researched with a significance level of 5%. Results The reading task presented a lower number of common disfluencies and a percentage of speech discontinuity about spontaneous speech and retelling tasks. No statistically significant differences were found between stuttering disfluencies in the three tasks surveyed. Conclusion This study showed that there are differences in the occurrence of common disfluencies - hesitations, interjections, and revisions - and in the percentage of speech discontinuity during an oral reading of adults who stutter concerning spontaneous speech and text retelling.

Desenvolvimento lexical e gagueira na criança: revisão de escopo / Lexical development and stuttering in children: a scope review

RESUMO Objetivo mapear as publicações que abordam a relação entre habilidade lexical e gagueira em crianças na faixa etária dos 2 anos aos 9 anos. Estratégia de pesquisa busca nas bases de dados Cochrane Library, MEDLINE, via PubMed, Scopus, Web of Science, Embase. Critérios de seleção estudos clínicos comparativos, longitudinais ou caso-controle, que incluíam análise do vocabulário expressivo e receptivo de crianças com gagueira na faixa etária de 2 a 9 anos. Análise dos dados: após a busca inicial com 426 artigos, 42 foram selecionados para leitura na íntegra, dos quais, 16 atenderam aos critérios de elegibilidade. Resultados a maior parte dos registros analisados referiu haver relação entre desenvolvimento ou desempenho lexical e gagueira em crianças. No entanto não houve consenso sobre a relação entre maior ou menor desenvolvimento lexical. Conclusão o mapeamento dos estudos incluídos indicou que não há evidências suficientes que relacionem gagueira e desenvolvimento lexical.

ABSTRACT Purpose to search and analyze publications that address the relationship between lexical ability and stuttering in children aged 2 to 9 years old. Research strategy search in Cochrane Library, MEDLINE via PubMed, Scopus, Web of Science, EMBASE databases. Selection criteria comparative, longitudinal or case-control clinical studies that included analysis of the expressive and receptive vocabulary of children with stuttering aged between 2 and 9 years. Results most of the analyzed studies report a relationship between lexical development or performance and stuttering in children, however there is no consense about the relationship between greater or lesser lexical development. Conclusion there is not enough evidence to relate stuttering and lexical development. More studies are needed in order to understand the relationship between lexical performance and stuttering in children.

Meta-analysis of efficacy and safety of belimumab in the treatment of childhood-onset systemic lupus erythematosus / 中国药房

OBJECTIVE To evaluate the efficacy and safety of belimumab in the treatment childhood-onset systemic lupus erythematosus （cSLE）， and to provide evidence-based references for clinical medication. METHODS Randomized controlled trials （RCTs） about belimumab or belimumab combined with hormone or belimumab combined with hormone and traditional drugs （test group） compared with placebo or hormone or traditional drugs or traditional drugs combined with hormone （control group） were collected by computer searching CNKI， Wanfang data， VIP， SinoMed， PubMed， Embase， Web of Science and the Cochrane Library； the search deadline was from the establishment of the databases to April 9th， 2023. After screening the literature and extracting the data， the quality of the included literature was evaluated by using the bias risk assessment tool recommended by Cochrane system evaluation manual 5.1.0； meta-analysis and sensitivity analysis were conducted by using RevMan 5.4 software. RESULTS A total of 510 children were included in 7 RCTs. Results of the meta-analysis showed that the clinically effective rate of test group was significantly better than the control group [OR＝6.16， 95%CI （2.23， 17.00）， P＝0.000 4]. There were no statistically significant differences in SLE disease activity index （SLEDAI） [MD＝－1.73， 95%CI （－3.50， 0.05）， P＝0.06]， the incidence of adverse drug reactions [OR＝0.72， 95%CI （0.43， 1.19）， P＝0.02]， complement C3 levels [MD＝0.12， 95%CI （－0.06， 0.30）， P＝0.18]， complement C4 levels [MD＝0.08，95%CI （－0.07，0.24）， P＝0.30] or the response rate of SLE responder index 4 [OR＝1.52， 95%CI （0.94，2.44）， P＝0.09] between 2 groups. The results of sensitivity analysis showed that when SLEDAI， the complement C3 levels and complement C4 levels were used as indicators， the results obtained in this study were robust. CONCLUSIONS The efficacy of belimumab in the treatment of cSLE is good， and its safety is comparable to the basic treatment.

Clinical characteristics and follow-up study of 210 children with systemic lupus erythematosus / 中华实用儿科临床杂志

Objective:To evaluate the systemic involvement, outcome and other disease characteristics of children with systemic lupus erythematosus (cSLE), and to explore the prognostic factors.Methods:cSLE treated in Beijing Children′s Hospital, Capital Medical University from January 1, 2016 to December 31, 2017 were enrolled in this study.Medical records including clinical manifestations and evaluation of affected systems, autoantibodies, treatment adjustment, and follow-up were collected and analyzed retrospectively.SPSS 21.0 was used for statistical analysis and mapping.The prognostic factors were studied by the Cox proportional risk regression model.Results:A total of 210 children were included, including 37 males and 173 females, with a male to female ratio of 1.0∶4.7.The average age of onset was (121.39±30.44) months.There were 167 (79.5%) patients with skin and mucous membrane damage, 137(65.2%) patients with blood system damage, 129(61.4%) patients with digestive system damage, 123(58.6%) patients with kidney damage, 119(56.7%) patients with skeletal and musculoskeletal system damage, 71(33.8%) patients with nervous system damage, 68(32.4%) patients with heart damage, and 60(28.6%) patients with respiratory system damage.The 90.95%(191/210) of the children enrolled presented moderate or high disease activity at the first visit.The effective rate was 76.92% (150/195) after 1-month follow-up and 96.95% (159/164) after 1-year follow-up.A high level of compliment C 3 was a protective factor for disease remission.The glucocorticoid level was declined to 5 mg or less in 42 children, and the median time was 40.5 (36.0, 42.0) months.Young onset age and no renal damage were protective factors for glucocorticoid reduction. Conclusions:cSLE tends to occur in female children with multiple involved systems and severe conditions.After reasonable treatment and follow-up, the disease can be alleviated or improved in one year.A high level of complement C 3 at the beginning of disease is conducive to rapid remission of the disease, and the young age of onset and no renal damage is conducive to rapid glucocorticoid reduction.

Stuttering intervention in children: an integrative literature review / Intervención de la tartamudez en niños: una revisión integrativa de la literatura

ABSTRACT Purpose: to describe intervention methodologies implemented in recent years in stuttering children. Methods: a search was performed for empirical articles on interventions in stuttering children aged 2.5 to 7 years. The search was carried out in Embase, WOS, Pubmed, and Scopus, considering articles published between January 2014 and June 2020. Literature Review: 11 articles were selected out of the 1,099 retrieved. Different approaches were observed, of which the Lidcombe program showed the most evidence. Most studies were conducted on English-speaking children and participants were assessed regarding linguistic and non-linguistic aspects. All studies considered parental involvement in the intervention. No investigation took measurements for more than 24 months. Individual interventions predominated. Conclusion: good therapeutic results were found in all reviewed interventions. Research comparing two types of treatments did not find one to be superior to the other.

RESUMEN Objetivo: describir las metodologías de intervención implementadas durante los últimos años en niños con tartamudez Métodos: se realizó la búsqueda de artículos empíricos de tratamiento en niños con tartamudez entre los 2.5 a 7 años. Se consideraron artículos publicados entre enero del año 2014 a junio del año 2020. La búsqueda se realizó en las bases de datos Embase, WOS, Pubmed y Scopus. Junto a lo anterior se realizó un análisis de las referencias de los artículos seleccionados. Revisión de la Literatura: se seleccionaron 11 artículos de 1.099 revisados. Se observaron distintas propuestas de intervención de las cuales el Programa Lidcombe es el que mayor evidencia presenta. La mayoría de las investigaciones fueron realizadas en hablantes de lengua inglesa. Los participantes son evaluados tanto en aspectos lingüísticos como no lingüísticos. Todos consideraron la participación de los padres en la intervención. No hubo investigaciones con mediciones a más de 24 meses. Predomina la modalidad de intervención individual. Conclusión: se evidencian buenos resultados terapéuticos en todas las intervenciones revisadas. En las investigaciones que compararon dos tipos de tratamiento no se observó la superioridad de uno por sobre otro.

Clinical characteristics and molecular mechanisms of hypoparathyroidism related to GATA3 gene mutation / 中华内科杂志

Objective:To analyze the clinical characteristics and molecular mechanisms of 5 cases of hypoparathyroidism caused by GATA3 gene mutation.Methods:A total of 5 childhood-onset hypoparathyroidism patients with GATA3 mutation were identified from 198 hypoparathyroidism (aged ≤18 years) from 1975 to 2021 in Peking Union Medical College Hospital. Clinical data and biochemical indices of the 5 patients were collected and analyzed retrospectively. Genetic screening was conducted by targeted next-generation sequencing (T-NGS), and bioinformatics analysis was performed to analyze the underline mechanisms.Results:The medium onset age of hypoparathyroidism of the 5 patients was 0.5 (0.1, 1.3) years old, and the time duration from onset to confirmed diagnosis of hypoparathyroidism and hypoparathyroidism- deafness-renal dysplasia syndrome was (7.0±5.2) years and (15.0±5.4) years, respectively. The clinical manifestations included carpopedal spasm accompanied by seizures (5 cases), basal ganglia calcification (5 cases), cataract (1 case), deafness (4 cases), and renal malformations or absence (2 cases). The blood calcium and blood parathormone(PTH) before treatment was (1.65±0.31) mmol/L and (4.64±2.63) ng/L, respectively. The 5 patients carried different heterozygous mutations in GATA3 gene, which caused nonsense mutations, frameshift mutations and splice site mutations, respectively. All the GATA3 gene mutations of the 5 patients are classified as pathogenic or likely pathogenic by the Clin Var database and American College of Medical Genetics and Genomics(ACMG).Conclusions:Attention should be paid to genetic diseases in patients with childhood-onset hypoparathyroidism. The possibility of hypoparathyroidism-deafness-renal dysplasia syndrome should be considered in hypoparathyroidism patients with hearing loss or renal dysplasia. GATA3 gene screening is highly recommended for the confirmation of the diagnosis.

Investigating resilience, perceived social support and trait anxiety levels of mothers of school-age children who stutter

ABSTRACT Purpose The attitude of mothers of children who stutter is believed to be crucial in the management of therapy process. Therefore, this study aimed at the description of resilience, perceived social support and trait anxiety levels of mothers of children with stuttering, as well as at the exploration of the relationship between them. Methods The study sample consisted of 33 mothers of children with stuttering aged 6-12 years. The data were gathered using the following instruments: Mother Resilience Scale, Revised Parental Social Support Scale, State-trait Anxiety Inventory, Stuttering Severity Instrument-4, and a personal information form. Results Resilience of mothers of children who stutter was high, whereas perceived social support and trait anxiety levels of the participants were lower. Mother's increased level of perceived social support resulted in increased resilience level and decreased trait anxiety level. The trait anxiety levels of mothers with a college degree were significantly lower than those of mothers with other education levels. No statistically significant correlation was observed between stuttering severity and the levels of resilience, perceived social support and trait anxiety. Conclusion Although mothers of stuttering children present the required skills to cope with the situation, it is believed that they need more social support. Consequently, offering professional support to mothers in the course of stuttering management and referring them to appropriate intervention programs are emphasized.

Comparison of urinary parameters, biomarkers, and outcome of childhood systemic lupus erythematosus early onsetlupus nephritis

Abstract Background: Urinary parameters, anti-dsDNA antibodies and complement tests were explored in patients with childhood-Systemic Lupus Erythematosus (cSLE) early-onset lupus nephritis (ELN) from a large multicenter cohort study. Methods: Clinical and laboratory features of cSLE cases with kidney involvement at presentation, were reviewed. Disease activity parameters including SLEDAI-2 K scores and major organ involvement at onset and follow up, with accrued damage scored by SLICC-DI, during last follow up, were compared with those without kidney involvement. Autoantibodies, renal function and complement tests were determined by standard methods. Subjects were grouped by presence or absence of ELN. Results: Out of the 846 subjects enrolled, mean age 11.6 (SD 3.6) years; 427 (50.5%) had ELN. There was no significant difference in the ELN proportion, according to onset age, but ELN frequency was significantly higher in non-Caucasians (p = 0.03). Hematuria, pyuria, urine casts, 24-h proteinuria and arterial hypertension at baseline, all had significant association with ELN outcome (p < 0.001). With a similar follow up time, there were significantly higher SLICC-DI damage scores during last follow up visit (p = 0.004) and also higher death rates (p < 0.0001) in those with ELN. Low C3 (chi-square test, p = 0.01), but not C3 levels associated significantly with ELN. High anti-dsDNA antibody levels were associated with ELN (p < 0.0001), but anti-Sm, anti-RNP, anti-Ro, anti-La antibodies were not associated. Low C4, C4 levels, low CH50 and CH50 values had no significant association. High erythrocyte sedimentation rate (ESR) was associated with the absence of ELN (p = 0.02). Conclusion: The frequency of ELN was 50%, resulting in higher morbidity and mortality compared to those without ELN. The urinary parameters, positive anti-dsDNA and low C3 are reliable for discriminating ELN.(AU)

Indicadores de fluência da fala na gagueira e no transtorno fonológico / Indicators of speech fluency in stuttering and in phonological disorder

RESUMO Objetivo Identificar os indicadores de fluência da fala que diferenciam os sujeitos com gagueira, com transtorno fonológico e com os dois distúrbios em comorbidade. Método Participaram deste estudo 30 sujeitos de 4 a 11 anos, separados em 3 grupos, cada um com 10 sujeitos: grupo com gagueira do desenvolvimento (GG), transtorno fonológico (GTF) e os dois diagnósticos em comorbidade (GGTF). Os procedimentos foram: avaliação da fluência da fala e da fonologia. Os dados foram submetidos à análise estatística. Resultados Os sujeitos do GG e GGTF apresentaram maior ocorrência das disfluências típicas da gagueira e do total das disfluências em relação aos do GTF. Em relação às outras disfluências, os três grupos foram semelhantes. O GTF manifestou menor quantidade de repetições de palavra monossilábica, de parte de palavra e prolongamentos em relação aos sujeitos dos GG e GGTF. Os bloqueios ocorreram mais frequentemente nos dois grupos com gagueira (GG e GGTF) em relação ao GTF. A interjeição ocorreu com maior frequência no GG quando comparado com o GTF. Conclusão Dos três grupos analisados, o GTF foi o que mais se diferenciou em termos quantitativo e qualitativo. As semelhanças e diferenças entre os grupos auxiliarão o diagnóstico diferencial e, consequentemente, possibilitarão melhor terapia. A presença de bloqueio representa um importante marcador para o diagnóstico de gagueira.

ABSTRACT Purpose To identify the indicators of speech fluency that differs subjects with stuttering, with phonological disorder, and with the two disorders in comorbidity. Methods Thirty subjects aged 4-11 years old were divided into 3 groups, each one with 10 subjects: groups with developmental stuttering (SG), phonological disorder (PDG), and with two diagnoses in comorbidity (SPDG) participated in this study. The procedures were speech fluency and phonology evaluation. The data were submitted to statistical analysis. Results Subjects from SG and SPDG showed a greater occurrence of stuttering-like disfluencies and total of disfluencies in relation to the subjects with PDG. Regarding to the other disfluencies, the three groups were similar. Subjects with PDG showed fewer monosyllabic word repetitions, part of word repetition and prolongations in relation to subjects from SG and SPDG. Blocks occurred more frequently in the two groups with stuttering (SG and SPDG) than in the group with PDG. Interjection occurred more frequently in subjects from SG than in PDG. Conclusion The PDG was the most differentiated in quantitative and qualitative terms in the three groups analyzed. The similarities and differences between the groups will assist the differential diagnosis and, consequently, will enable improved therapy. The presence of blocks represents an important marker for the diagnosis of stuttering

Avaliação integrada da fluência: uma perspectiva ampliada do cuidado fonoaudiológico / Integrated assessment of fluency: a magnified view of the speech care / La evaluación integrada de la fluidez: una vista ampliada del cuidado fonoaudiológico

A fluência é uma habilidade que envolve a participação de múltiplos sistemas neurais, principalmente, dos processamentos da linguagem, fala, voz e audição. Tais interfaces justificam a necessidade de considerar na dinâmica avaliativa fonoaudiológica, suas interações com os demais conteúdos específicos da Fonoaudiologia. O presente artigo de cunho teórico, consiste em uma revisão não-sistemática da literatura que objetiva discutir acerca do processo de avaliação fonoaudiológica da fluência, mediante uma perspectiva de integralidade do cuidado. Tal discussão visa contribuir para a consolidação do caráter transversal da fluência na literatura nacional, coerente com a complexidade da sua natureza neurofisiológica; bem como favorecer ao fonoaudiólogo, informações e reflexões necessárias para a sua aplicabilidade em contexto prático. Para isso, estruturou-se esta comunicação em duas principais seções: apresentação do processo de avaliação da fluência, e discussão acerca da avaliação integrada da fluência. Dessa forma, conclui-se que, para uma avaliação fonoaudiológica integrada da fluência é necessário ir além da identificação das rupturas e realização dos cálculos de velocidade de fala. Requer conhecimento aprofundado sobre a natureza da fluência, enquanto habilidade e área da Fonoaudiologia, para o exercício do raciocínio clínico integrado que contemple a unicidade de cada sujeito, bem como suas necessidades comunicativas para além da queixa, vislumbrando a saúde da sua comunicação.

The fluency is a skill that involves the participation of multiple neural systems, mainly the processing of language, speech, voice and hearing. Such interfaces justify the need to consider in its dynamic speech evaluation, its interactions with other specific content of the Speech-Language and Hearing Sciences. The present article, theoretical, consists in a non-systematic review of the literature that aims to discuss the process of speech-language assessment of fluency, through a perspective of integrality of care. This discussion is intended to contribute to the consolidation of the cross-sectional nature of fluency in the national literature, consistent with the complexity of its neurophysiologic nature; as well as to promote the speech pathologist, information and observations necessary for its applicability in practical context. For this reason, the communication was structured in two main sections: presentation of the evaluation process of the fluency, and discussion about integrated assessment of fluency. Thus, concluded that, for an integrated assessment of speech fluency, is necessary to go beyond the identification of observing, and completion of the calculations of speech speed. Requires in-depth knowledge about the nature of the fluency, while skill and area of Speech-Language and Hearing Sciences, for the exercise of clinical reasoning that contemplates the unicity of each subject, as well as its communicative needs in addition to the complaint, glimpsing the health of your communication.

La fluidez es una habilidad que implica la participación de múltiples sistemas neuronales, principalmente el procesamiento del lenguaje, el habla, la voz y la audición. Esas interfaces, justifican la necesidad de considerar en su discurso de evaluación dinámica, sus interacciones con otros contenidos específicos de la Fonoaudiología. El presente artículo, teórico, consiste en una revisión no sistemática de la literatura que tiene como objetivo analizar el proceso de evaluación de la fluidez, a través de una perspectiva de integralidad de la atención. Esta discusión se destina a contribuir a la consolidación de la naturaleza transversal de la fluidez en la literatura nacional, en consonancia con la complejidad de su naturaleza neurofisiológica; así como promover la logopeda, información y las observaciones necesarias para su aplicabilidad en el contexto práctico. Por esta razón, el artículo se estructura en dos secciones principales: presentación del proceso de evaluación de la fluidez y discusión sobre la evaluación integrada de la fluidez. Por lo tanto, se concluye que, para una evaluación integrada de la fluidez es necesario ir más allá de la identificación de las disfluencias, y la realización de los cálculos de velocidad de habla. Requiere un conocimiento en profundidad acerca de la naturaleza de la fluidez, mientras que la habilidad y el área de la Fonoaudiología, para el ejercicio de razonamiento clínico que contempla la unicidad de cada asignatura, así como sus necesidades comunicativas además de la denuncia, vislumbrando la salud de su comunicación.

Initial digital vasculitis in a large multicenter cohort of childhood-onset systemic lupus erythematosus / Vasculite digital inicial em uma grande coorte multicêntrica de pacientes com lúpus eritematoso sistêmico de início na infância

Abstract Objectives: To assess clinical digital vasculitis (DV) as an initial manifestation of childhood-onset systemic lupus erythematosus (cSLE) within a large population. Methods: Multicenter cross-sectional study including 852 cSLE patients (ACR criteria) followed in ten Pediatric Rheumatology centers in São Paulo State, Brazil. Results: DV was observed in 25/852 (3%) cSLE patients. Periungual hemorrhage was diagnosed in 12 (48%), periungual infarction in 7 (28%), tip finger ulceration in 4 (16%), painful nodules in 1 (4%) and gangrene in 1 (4%). A poor outcome, with digital resorption, occurred in 5 (20%). Comparison of patients with and without DV revealed higher frequency of malar rash (80% vs. 53%, p = 0.008), discoid rash (16% vs. 4%, p = 0.017), photosensitivity (76% vs. 45%, p = 0.002) and other cutaneous vasculitides (80% vs. 19%, p < 0.0001), whereas the frequency of overall constitutional features (32% vs. 61%, p = 0.003), fever (32% vs. 56%, p = 0.020) and hepatomegaly (4% vs. 23%, p = 0.026) were lower in these patients. Frequency of female gender, severe multi-organ involvement, autoantibodies profile and low complement were alike in both groups (p > 0.05). SLEDAI-2K median, DV descriptor excluded, was significantly lower in patients with DV compared to those without this manifestation [10 (0-28) vs. 14 (0-58), p = 0.004]. Visceral vasculitis or death were not observed in this cSLE cohort. The frequency of cyclophosphamide use (0% vs. 18%, p = 0.014) was significantly lower in the DV group. Conclusion: Our large multicenter study identified clinical DV as one of the rare initial manifestation of active cSLE associated with a mild multisystemic disease, in spite of digital resorption in some of these patients.

Resumo Objetivos: Avaliar a vasculite digital (VD) clínica como uma manifestação inicial do lúpus eritematoso sistêmico de início na infância (LESi) em uma grande população. Métodos: Estudo transversal multicêntrico que incluiu 852 pacientes com LESi (critérios do ACR), acompanhados em dez centros de reumatologia pediátrica do Estado de São Paulo. Resultados: Observou-se VD em 25/852 (3%) pacientes com LESi. Diagnosticaram-se hemorragia periungueal em 12 (48%), infarto periungueal em sete (28%), úlcera de ponta de dígito em quatro (16%), nódulos dolorosos em um (4%) e gangrena em um (4%). Um desfecho ruim, com reabsorção digital, ocorreu em cinco (20%) pacientes. A comparação entre pacientes com e sem VD revelou maior frequência de erupção malar (80% vs. 53%, p = 0,008), erupção discoide (16% vs. 4%, p = 0,017), fotossensibilidade (76% vs. 45% p = 0,002) e outras vasculites cutâneas (80% vs. 19%, p < 0,0001), enquanto a frequência de características constitucionais totais (32% vs. 61%, p = 0,003), febre (32% vs. 56% p = 0,020) e hepatomegalia (4% vs. 23%, p = 0,026) foram menores nesses pacientes. A frequência do gênero feminino, o envolvimento grave de múltiplos órgãos, perfil de autoanticorpos e baixo complemento foram semelhantes nos dois grupos (p > 0,05). A mediana no Sledai-2 K, exclusive o descritor de VD, foi significativamente menor nos pacientes com VD em comparação com aqueles sem essa manifestação [10 (0 a 28) vs. 14 (0 a 58), p = 0,004]. Não foram observadas vasculite visceral nem morte nessa coorte de pacientes com LESi. A frequência de uso de ciclofosfamida (0% vs. 18%, p = 0,014) foi significativamente menor no grupo VD. Conclusão: Este grande estudo multicêntrico identificou a VD clínica como uma rara manifestação inicial do LESi ativo, associada a doença multissistêmica leve, apesar da ocorrência de reabsorção digital em alguns desses pacientes.

Cytokine profile in childhood-onset systemic lupus erythematosus: a cross-sectional and longitudinal study

Childhood-onset systemic lupus erythematosus (cSLE) exhibits an aggressive clinical phenotype and severe complications. This could be due to a pro-inflammatory cytokine milieu. Therefore, we determined plasma levels of Th1 (IL-2, IFN-γ, TNF), Th2 (IL-4), Th17 (IL-17A, IL-6), and Treg (IL-10) cytokines in a cohort of cSLE patients and healthy controls, and we evaluated the association between these cytokines and disease activity. We conducted a cross-sectional study with 51 cSLE patients from two pediatric rheumatology services. Ten cSLE patients participated in a longitudinal follow-up study. Blood samples were collected from the same patient during active and inactive disease. Disease activity was evaluated according to SLE Disease Activity Index 2000 (SLEDAI-2K). Cytokines levels were measured by cytometric bead array technique. cSLE patients had higher IL-6 (P<0.001) and IL-10 (P<0.001) levels than healthy controls. Patients with active disease had higher IL-6 and IL-10 levels than patients with inactive disease (P=0.001 and P=0.014, respectively) and the control group (both P<0.001). IL-6 (P=0.022), IL-10 (P=0.013), and IL-17A (P=0.041) levels were significantly higher during active than inactive disease. Linear regression analysis revealed IL-6 (P=0.002, 95%CI=0.006-0.025) and IL-10 (P=0.01 95%CI=0.021-0.150) as independent factors for increased SLEDAI-2K. IL-6, IL-10, and IL-17A are candidate biomarkers for disease activity in cSLE patients. This is the first longitudinal study to support their pivotal role in the pathogenesis of the disease.

Cerebrotendinous Xanthomatosis Without Skin Changes: Diagnostic Delay and Confirmation by Genetic Analysis.

Background: Cerebrotendinous xanthomatosis is an inherited lipid storage disease manifesting with infantile onset diarrhea, cataracts, xanthomas and adult-onset neurological dysfunction with cerebellar signs and neuropathy. Case: 10-year-old boy presented with progressive ataxia, neuropathy and cataracts. Over 6 years, he developed dementia, kyphoscoliosis with worsening ataxia, and neuropathy. Outcome: Sterol analysis and CYP27A1 sequencing confirmed the diagnosis.Message: The condition should be considered in childhood onset cerebellar ataxia with cataracts, even in the absence of skin signs.

Alcohol, smoking and illicit drug use in pediatric systemic lupus erythematosus patients / Uso de álcool, tabaco e drogas ilícitas por pacientes com lúpus eritematoso sistêmico pediátrico

Abstract Objective To evaluate alcohol, smoking and/or illicit drug use, and history of bullying in adolescent childhood-onset systemic lupus erythematosus and healthy controls. Methods 174 adolescents with pediatric rheumatic diseases were selected. All of the 34 childhood-onset systemic lupus erythematosus patients and 35 healthy controls participated in this study. A cross-sectional study included demographic/anthropometric data and puberty markers assessments; structured questionnaire and CRAFFT screening interview. Results McNemar tests indicated an excellent test–retest reliability of the structured questionnaire (p = 1.0). The median current age was similar between childhood-onset systemic lupus erythematosus patients and controls [15 (12–18) vs. 15 (12–18) years, p = 0.563]. The median of menarche age was significantly higher in childhood-onset systemic lupus erythematosus patients compared to controls [12 (10–15) vs. 11.5 (9–15) years, p = 0.041], particularly in those that lupus had occurred before first menstruation [13 (12–15) vs. 11.5(9–15) years, p = 0.007]. The other puberty marker and sexual function parameters were similar in both groups (p > 0.05). Alcohol use was similar in both childhood-onset systemic lupus erythematosus patients and controls (38% vs. 46%, p = 0.628). A trend of lower frequency of CRAFFT score ≥2 (high risk for substance abuse/dependence) was evidenced in childhood-onset systemic lupus erythematosus patients compared to controls (0% vs. 15%, p = 0.053). Bullying was reported similarly for the two groups (43% vs. 44%, p = 0.950). Further analysis in lupus patients regarding alcohol/smoking/illicit drug use showed no differences in demographic data, puberty markers, history of bullying, sexual function, contraceptive use, disease activity/damage scores, clinical/laboratorial features and treatments (p > 0.05). Conclusion This study showed high frequencies of early alcohol use in lupus adolescents and healthy controls, despite of a possible low risk for substance abuse/dependence in childhood-onset systemic lupus erythematosus patients.

Resumo Objetivo Avaliar o uso de álcool, tabaco e/ou drogas ilícitas e a história de bullying entre adolescentes com lúpus eritematoso sistêmico pediátrico (LES-i) e controles saudáveis. Métodos Selecionaram-se 174 adolescentes com doenças reumatológicas pediátricas. Todos os 34 pacientes com LES-i e 35 controles saudáveis participaram deste estudo. Um estudo transversal incluiu avaliações de dados demográficos/antropométricos e marcadores da puberdade, um questionário estruturado e a entrevista de triagem Crafft. Resultados Testes de McNemar indicaram uma excelente confiabilidade teste-reteste do questionário estruturado (p = 1,0). A idade média atual foi semelhante entre pacientes com LES-i e controles [15 (12 a 18) vs. 15 (12 a 18) anos, p = 0,563]. A mediana da idade na menarca foi significativamente maior em pacientes com LES-i em comparação com os controles [12 (10 a 15) vs. 11,5 (9 a 15) anos, p = 0,041], particularmente naquelas em quem o lúpus ocorreu antes da primeira menstruação [13 (12 a 15) vs. 11,5 (9 a 15) anos, p = 0,007]. Os outros marcadores da puberdade e parâmetros de função sexual foram similares nos dois grupos (p > 0,05). O uso de álcool foi semelhante entre pacientes com LES-i e controles (38% vs. 46%, p = 0,628). Evidenciou-se uma tendência de menor frequência de pontuação ≥ 2 no Crafft (alto risco para uso abusivo/dependência de substâncias) em pacientes com LES-i em comparação com os controles (0% vs. 15%, p = 0,053). O bullying foi relatado em frequência semelhante nos dois grupos (43% vs. 44%, p = 0,950). Uma análise mais aprofundada em relação ao uso de álcool/tabaco/drogas ilícitas em pacientes com lúpus não mostrou diferenças nos dados demográficos, marcadores da puberdade, história de bullying, função sexual, uso de anticoncepcionais, escores de atividade/danos da doença, características clínicas/laboratoriais e tratamentos (p > 0,05). Conclusão Este estudo mostrou uma alta frequência de uso precoce de álcool em adolescentes com lúpus e controles saudáveis, apesar de um possível baixo risco para uso abusivo/dependência de substâncias em pacientes com LES-i.

Intervenciones terapéuticas en psicosis esquizofrénica de niños y adolescentes / Therapeutic interventions in schizophrenic psychosis in children and adolescents

La prevalencia de Esquizofrenia es muy baja en la infancia y adolescencia temprana, aumentando en la adolescencia y adultez a un 1%. Se ha estimado que la prevalencia de psicosis de 0,9 en 10.000 a los 13 años y 17,6 en 10.000 a los 18 años. Los cuadros esquizofrénicos de inicio temprano y muy temprano son una variante severa del trastorno y se asocian a un mayor deterioro funcional, curso clínico más grave y peor evolución. Todo esto determina la necesidad de implementar tratamientos multimodales tempranos y eficaces, así como estrategias preventivas en los grupos de mayor riesgo. El tratamiento farmacológico cuenta con mayores evidencias de efectividad en este cuadro y otorga notables beneficios a los pacientes, sin embargo se requiere mayor investigación a largo plazo respecto a los efectos adversos secundarios, su impacto en individuos en desarrollo y la eficacia de estos agentes. Estos avances permitirán al clínico establecer un justo balance costo/beneficio de su uso en población infantojuvenil.

The prevalence of schizophrenia is very low during childhood and early adolescence, increasing later in adolescence and adulthood to 1%. It has been established that the prevalence of psychosis is 0.9/10000 at 13 years of age and 17.6/10000 at 18 years of age. Early and very early onset schizophrenia are a severe form of this disorder, and are associated to a larger disability, more severe form of the disease and worse prognosis. These factors determine the need of implementing treatments that are multimodal, early and effective, as well as preventive strategies in high risk groups. The pharmacological treatment of schizophrenia has evidence of effectiveness and gives patients important benefits, however, more long term research is needed regarding its side effects, its impact on the developing brain and its effectiveness. These facts would help the psychiatrist to establish the value, risks and benefits of the use of drugs in children and adolescents.

Serum interleukin-17 levels are associated with nephritis in childhood-onset systemic lupus erythematosus

OBJECTIVES: To determine the serum interleukin-17 (IL-17) levels in childhood-onset systemic lupus erythematosus patients and to evaluate the association between IL-17 and clinical manifestations, disease activity, laboratory findings and treatment. METHODS: We included 67 consecutive childhood-onset systemic lupus erythematosus patients [61 women; median age 18 years (range 11-31)], 55 first-degree relatives [50 women; median age 40 years (range 29-52)] and 47 age- and sex-matched healthy controls [42 women; median age 19 years (range 6-30)]. The childhood-onset systemic lupus erythematosus patients were assessed for clinical and laboratory systemic lupus erythematosus manifestations, disease activity [Systemic Lupus Erythematosus Disease Activity Index (SLEDAI)], cumulative damage [Systemic Lupus International Collaborating Clinics/American College of Rheumatology (ACR) Damage Index] and current drug use. Serum IL-17 levels were measured by an enzyme-linked immunosorbent assay using commercial kits. RESULTS: The median serum IL-17 level was 36.3 (range 17.36-105.92) pg/mL in childhood-onset systemic lupus erythematosus patients and 29.47 (15.16-62.17) pg/mL in healthy controls (p=0.009). We observed an association between serum IL-17 levels and active nephritis (p=0.01) and migraines (p=0.03). Serum IL-17 levels were not associated with disease activity (p=0.32), cumulative damage (p=0.34), or medication use (p=0.63). CONCLUSION: IL-17 is increased in childhood-onset systemic lupus erythematosus and may play a role in the pathogenesis of neuropsychiatric and renal manifestations. Longitudinal studies are necessary to determine the role of IL-17 in childhood-onset systemic lupus erythematosus. .

Doença periodontal em doenças reumáticas pediátricas / Periodontal disease in pediatric rheumatic diseases

Gengivite e periodontite são doenças periodontais imunoinflamatórias caracterizadas por infecções localizadas crônicas geralmente associadas a uma inflamação insidiosa. Essa revisão narrativa discute doenças periodontais e mecanismos que influenciam a resposta imune e a autoimunidade na área das doenças reumáticas pediátricas (DRP), particularmente a artrite idiopática juvenil (AIJ), lúpus eritematoso sistêmico juvenil (LESJ) e dermatomiosite juvenil (DMJ). Foi notada maior frequência de gengivite nessas doenças em comparação com controles sadios, enquanto casos de periodontite foram achados raros. Em pacientes com AIJ, a gengivite e a periodontite estavam relacionadas a fatores mecânicos, artrite crônica com incapacitação funcional, desregulação da resposta imunoinflamatória, dieta e medicamentos, principalmente corticosteroides e ciclosporina. Em pacientes com LESJ, a gengivite estava associada a períodos mais longos da doença, doses elevadas de corticosteroides, hiperativação dos linfócitos B e elevação da imunoglobulina G. São escassos os dados sobre doenças periodontais na população com DMJ; nos pacientes ativos, foi observado um padrão gengival singular, caracterizado por eritema gengival, dilatação dos capilares e formação arbustiforme. Em conclusão, gengivite foi a doença periodontal mais comum em pacientes com DRP. A associação observada com a atividade da doença reforça a necessidade de futuros estudos, com o intuito de determinar se a resolução dessa complicação irá influenciar o curso ou a gravidade da doença.

Gingivitis and periodontitis are immunoinflammatory periodontal diseases characterized by chronic localized infections usually associated with insidious inflammation. This narrative review discusses periodontal diseases and mechanisms influencing the immune response and autoimmunity in pediatric rheumatic diseases (PRD), particularly juvenile idiopathic arthritis (JIA), childhood-onset systemic lupus erythematosus (C-SLE) and juvenile dermatomyositis (JDM). Gingivitis was more frequently observed in these diseases compared to health controls, whereas periodontitis was a rare finding. In JIA patients, gingivitis and periodontitis were related to mechanical factors, chronic arthritis with functional disability, dysregulation of the immunoinflammatory response, diet and drugs, mainly corticosteroids and cyclosporine. In C-SLE, gingivitis was associated with longer disease period, high doses of corticosteroids, B-cell hyperactivation and immunoglobulin G elevation. There are scarce data on periodontal diseases in JDM population, and a unique gingival pattern, characterized by gingival erythema, capillary dilation and bush-loop formation, was observed in active patients. In conclusion, gingivitis was the most common periodontal disease in PRD. The observed association with disease activity reinforces the need for future studies to determine if resolution of this complication will influence disease course or severity.

Clinical and serological manifestations associated with interferon-α levels in childhood-onset systemic lupus erythematosus

OBJECTIVE: To determine the serum levels of interferon alpha in childhood-onset systemic lupus erythematosus patients, their first-degree relatives and healthy controls and to evaluate the associations between serum interferon alpha and disease activity, laboratory findings and treatment features. METHODS: We screened consecutive childhood-onset systemic lupus erythematosus patients in a longitudinal cohort at the pediatric rheumatology unit of the State University of Campinas between 2009 and 2010. All patients demonstrated disease onset before the age of 16. Disease status was assessed according to the Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) and Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index (SDI). Interferon alpha levels were measured using an enzyme-linked immunoabsorbent assay. RESULTS: We included 57 childhood-onset systemic lupus erythematosus patients (mean age 17.33±4.50), 64 firstdegree relatives (mean age 39.95±5.66), and 57 healthy (mean age 19.30±4.97) controls. Serum interferon alpha levels were significantly increased in childhood-onset systemic lupus erythematosus patients compared to their firstdegree relatives and healthy controls. Interferon alpha levels were significantly increased in patients with positive dsDNA antibodies, patients with cutaneous vasculitis, patients with new malar rash and patients who were not receiving medication. Interferon alpha levels correlated with C3 levels and systemic lupus erythematosus Disease Activity Index scores. In addition, we observed an inverse correlation between patient age and interferon alpha levels. CONCLUSION: Interferon alpha may play a role in the pathogenesis of childhood-onset systemic lupus erythematosus, especially in cutaneous manifestations and dsDNA antibody formation. The observation that interferon alpha levels are increased in patients who are not taking medication should be investigated in longitudinal studies to determine whether elevated interferon alpha levels may predict systemic lupus erythematosus flares.