A different perspective into clinical symptoms in CPT I deficiency.

Carnitine palmitoyltransferase I (CPT I) deficiency is an autosomal recessive disorder causing long-chain fatty acid oxidation defect, characterized by metabolic decompensation episodes accompanied by hypoketotic hypoglycemia, hepatomegaly, seizures, renal tubular acidosis, and hyperammonemia. The aim of this study was to investigate the neurological symptoms in CPT I deficiency and different outcomes with respect to predisposing factors for sequela and to draw attention to the neurological impairment that may develop during the course of the disease. The retrospective study reviewed clinical characteristics of 14 patients. Mean follow-up period was 10.3 ± 4.7 (range: 8 months-18.6 years; median: 10 years) years. Three patients were diagnosed with newborn screening. In the symptomatic group (n = 12) most common presenting symptoms were psychomotor retardation (n = 6), seizures (n = 5), encephalopathy (n = 5), dystonia (n = 1), Reye-like syndrome (n = 5), muscle weakness (n = 3), and autism (n = 1). Neurologic findings detected in the follow-up period included speech disorder (n = 9), abnormal cranial MRI findings (n = 5), neuropathy (n = 1), and attention deficit hyperactivity disorder (n = 1). Speech disorders collectively included delayed expressive language development, speech articulation disorder, speech delay, stuttering, and specific speech difficulties. After starting treatment for CPT I deficiency, speech disorders improved in 3 patients. Our findings confirmed that the clinical manifestations of CPT I deficiency is wider than previously thought, causing specific neurologic dysfunction, mainly speech disorders at a large scale, that were unexpected in a fatty acid oxidation disorder. We suggest that early diagnosis and treatment is the key factor to prevent neurologic sequelae while an extensive neurological evaluation is essential in patients with CPT I deficiency both at the time of diagnosis and during the follow-up period.

Clinical management and diagnosis of CLN2 disease: consensus of the Brazilian experts group / Manejo clínico e diagnóstico da doença CLN2: consenso do grupo de especialistas brasileiros

Abstract Neuronal ceroid lipofuscinosis type 2 (CLN2) is a rare neurodegenerative genetic disease that affects children in early life. Its classic form is rapidly progressive, leading to death within the first 10 years. The urge for earlier diagnosis increases with the availability of enzyme replacement therapy. A panel of nine Brazilian child neurologists combined their expertise in CLN2 with evidence from the medical literature to establish a consensus to manage this disease in Brazil. They voted 92 questions including diagnosis, clinical manifestations, and treatment of the disease, considering the access to healthcare in this country. Clinicians should suspect CLN2 disease in any child, from 2 to 4 years old, with language delay and epilepsy. Even though the classic form is the most prevalent, atypical cases with different phenotypes can be found. Electroencephalogram, magnetic resonance imaging, molecular and biochemical testing are the main tools to investigateand confirm the diagnosis. However, we have limited access to molecular testing in Brazil, and rely on the support from the pharmaceutical industry. The management of CLN2 should involve a multidisciplinary team and focus on the quality of life of patients and on family support. Enzyme replacement therapy with Cerliponase α is an innovative treatment approved in Brazil since 2018; it delays functional decline and provides quality of life. Given the difficulties for the diagnosis and treatment of rare diseases in our public health system, the early diagnosis of CLN2 needs improvement as enzyme replacement therapy is available and modifies the prognosis of patients.

Resumo Lipofuscinose ceróide neuronal (CLN2) é uma doença genética neurodegenerativa rara que afeta crianças nos primeiros anos de vida. A sua forma clássica é rapidamente progressiva, levando à morte nos primeiros 10 anos. A necessidade de um diagnóstico precoce aumenta com a disponibilidade do tratamento de terapia enzimática. Um painel de nove neurologistas infantis brasileiros combinou sua experiência em CLN2 com evidências da literatura médica para estabelecer um consenso no manejo desta doença no Brasil. Eles votaram 92 questões abordando diagnóstico, manifestações clínicas e tratamento, considerando o acesso à saúde no Brasil. Deve-se suspeitar de CLN2 em qualquer criança de 2 a 4 anos de idade que apresente atraso de linguagem e epilepsia. Apesar da forma clássica ser a mais prevalente, podem ser encontrados casos atípicos com diferentes fenótipos. Eletroencefalograma, ressonância magnética, testes moleculares e bioquímicos são as principais ferramentas para investigar e confirmar o diagnóstico. No entanto, o acesso aos testes moleculares é limitado no Brasil, necessitando contar com o apoio da indústria farmacêutica. O manejo da CLN2 deve envolver uma equipe multidisciplinar e focar na qualidade de vida dos pacientes e no apoio familiar. A terapia de reposição enzimática com Cerliponase alfa é um tratamento inovador aprovado no Brasil desde 2018; ele retarda o declínio funcional e proporciona qualidade de vida. Diante das dificuldades para o diagnóstico e tratamento de doenças raras em nosso sistema público de saúde, o diagnóstico precoce de CLN2 precisa de melhorias pois a terapia de reposição enzimática está disponível e modifica o prognóstico dos pacientes.

Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III.

We describe the development of 236 children with Angelman syndrome (AS) using the Bayley Scales of Infant and Toddler Development, Third Edition. Multilevel linear mixed modeling approaches were used to explore differences between molecular subtypes and over time. Individuals with AS continue to make slow gains in development through at least age 12 years of age at about 1-2 months/year based on age equivalent score and 1-16 growth score points/year depending on molecular subtype and domain. Children with a deletion have lower scores at baseline and slower rate of gaining skills while children with UBE3A variant subtype demonstrated higher scores as well as greater rates of skill attainment in all domains. The developmental profiles of UPD and ImpD were similar.

Atividades e participação de crianças com transtornos de linguagem em atendimento ambulatorial segundo a CIF / Activities and participation of children with language disorders in outpatient care according to the ICF

RESUMO Objetivo Identificar as principais categorias do componente Atividades e Participação da Classificação Internacional de Funcionalidade, Incapacidade e Saúde, bem como os possíveis qualificadores de Capacidade e Desempenho, e verificar suas associações com idade, sexo, escolaridade e diagnóstico fonoaudiológico em crianças atendidas em um ambulatório de linguagem oral. Método Trata-se de estudo observacional analítico e transversal, realizado com dados secundários de 32 prontuários de crianças com maioria do sexo masculino, média de idade de 41,03 meses, em ensino infantil e transtorno de linguagem associado a outras condições. Foi realizada a codificação das principais manifestações fonoaudiológicas segundo as categorias do componente Atividades e Participação pré-selecionadas e realizadas análises estatísticas descritivas e bivariadas e uso do teste Exato de Fisher com nível de significância de 5%. Resultados A análise descritiva das categorias pré-selecionadas permitiu verificar um número alto de respostas "Não informado", com maior porcentagem em expressão vocal sem fala (d331) desempenho (93,8%), tomar decisões (d177) capacidade (90,6%), resolver problemas (d175) desempenho (65,6%) e capacidade (87,5%), recepção de mensagens orais (d310) desempenho (65,6%) e comer (d550) capacidade (65,6%). Dentre as 24 categorias selecionadas, 12 contemplaram conjuntamente os qualificadores de Desempenho e Capacidade. Houve associação com significância estatística entre as categorias (d175, d815 e d350) com dados sociodemográficos e diagnósticos fonoaudiológicos. Conclusão Foram identificadas dificuldades em categorias do componente Atividades e Participação e associações com significância estatística entre elas e os dados sociodemográficos e diagnósticos fonoaudiológicos, evidenciando impactos dos transtornos de linguagem oral nas atividades e participação de crianças atendidas em um serviço ambulatorial.

ABSTRACT Purpose To identify the main categories of the Activities and Participation component of the International Classification of Functioning, Disability, and Health and to verify the association with age, gender, education, and speech therapy diagnosis in children who are assisted by an oral language clinic. Methods This is an analytical and cross-sectional observational study, carried out with secondary data from 32 medical records of children with the majority male, mean age of 41.03 months, in early childhood education and language disorder associated with other conditions. The main speech-language pathology manifestations were coded according to the pre-selected categories of the Activities and Participation component, and descriptive and bivariate statistical analyzes were performed, and the Fisher's Exact test was used with a significance level of 5%. Results The descriptive analysis of the pre-selected categories allowed us to verify a high number of "Not informed" answers, with a higher percentage in vocal expression without speech (d331) performance (93.8%), making decisions (d177) ability (90.6%), problem solving (d175) performance (65.6%) and capacity (87.5%), reception of oral messages (d310) performance (65.6%) and eating (d550) capacity (65.6%). Among the 24 categories selected, 12 jointly contemplated the Qualifiers of Performance and Capacity. There was a statistically significant association between the three categories with sociodemographic data and speech therapy diagnoses. Conclusion Difficulties were identified in several categories of the Activities and Participation component and statistically significant associations between them and sociodemographic data and speech therapy diagnoses, showing the impacts of oral language disorders on the activities and participation of children assisted in an outpatient speech therapy service.

[Place of the BMT-i modular tool in the assessment of learning disabilities]. / Place de l'outil modulable BMT-i dans l'évaluation des troubles de l'apprentissage.

PLACE OF THE BMT-I MODULAR TOOL IN THE ASSESSMENT OF LEARNING DISABILITIES Twenty percent of children have difficulties learning to read, write, or count. Eight percent of children have a specific and durable impairment in the development of a learning or cognitive function or Learning Disabilities (LD), often called «dys¼ (dysphasia, dyslexia, dysorthography, dyscalculia, dysgraphia, etc.). This is a public health problem, which has been addressed by the Haute Autorité de Santé (HAS), which recommends a health program based on the needs of each child, coordinating education and health professionals - rehabilitation specialists and medical prescribers. The role of the child's doctor is essential in the first line of action to identify these problems, to examine the child, to prescribe reeducation when necessary and to follow the evolution. However, he has received little training. The modular BMT-i (computerized adaptable test battery) tool is validated, easy to use and reliable. It allows the screening of difficulties in each domain in 10 to 25 minutes in front of a complaint by selecting the appropriate tests. A choice of clinical situations helps to understand the disorders and the approach of the examination of the child, to inform the families of the results, to accompany them on the therapeutic project and to prescribe the care adapted to each situation.

PLACE DE L'OUTIL MODULABLE BMT-I DANS L'ÉVALUATION DES TROUBLES DE L'APPRENTISSAGE Vingt pour cent des enfants sont en difficulté pour apprendre à lire, écrire et/ou compter. Huit pour cent des enfants présentent une altération durable et spécifique du développement d'un apprentissage ou d'une fonction cognitive (« troubles spécifiques du langage et des apprentissages ¼ [TSLA]), souvent simplifié sous le terme « dys ¼ (dysphasie, dyslexie, dysorthographie, dyscalculie, dysgraphie, etc.). La Haute Autorité de santé s'est saisie de ce problème de santé publique et recommande un parcours de santé ciblé sur les besoins de chaque enfant, coordonnant professionnels de l'éducation et de la santé ­ rééducateurs et médecins prescripteurs. Le rôle du médecin est essentiel en premier recours pour identifier les enfants concernés, les examiner, prescrire les rééducations nécessaires et suivre l'évolution. L'outil modulable BMT-i (batterie modulable de tests informatisée) validé, simple d'utilisation et fiable, permet le dépistage des difficultés dans chaque domaine en dix à vingt-cinq minutes, en sélectionnant les épreuves adéquates. Un choix de situations cliniques aide à la compréhension des troubles et à la démarche de l'examen de l'enfant, afin d'informer les familles des résultats, les accompagner dans les actions à mener et prescrire les soins adaptés à chaque situation.

Children with developmental language disorder: a frequency following response in the noise study / Crianças com transtorno de desenvolvimento da linguagem: uma resposta de seguimento de frequência (FFR) no estudo com ruído

Abstract Introduction: Children with developmental language disorder have been reported to have poor temporal auditory processing. This study aimed to examine the frequency following response. Objective: This work aimed to investigate speech processing in quiet and in noise. Methods: Two groups of children were included in this work: the control group (15 children with normal language development) and the study group (25 children diagnosed with developmental language disorder). All children were submitted to intelligence scale, language assessment, full audiological evaluation, and frequency following response in quiet and noise (+5QNR and +10QNR). Results: Results showed no statically significant difference between both groups as regards IQor PTA. In the study group, the advanced analysis of frequency following response showed reduced F0 and F2 amplitudes. Results also showed that noise has an impact on both the transient and sustained components of the frequency following response in the same group. Conclusion: Children with developmental language disorder have difficulty in speech processing especially in the presence of background noise. Frequency following response is an efficient procedure that can be used to address speech processing problems in children with developmental language disorder.

Resumo Introdução: Tem sido relatado que crianças com transtorno do desenvolvimento da linguagem têm processamento auditivo temporal deficiente. Objetivo: Examinar a resposta de seguimento de frequência eo processamento da fala no silêncio e no ruído. Método: Dois grupos de crianças foram incluídos neste trabalho: o grupo controle (15 crianças com desenvolvimento normal de linguagem) e o grupo de estudo (25 crianças com diagnóstico de transtorno do desenvolvimento da linguagem). Todas as crianças foram submetidas à escala de inteligência, avaliação da linguagem, avaliação audiológica completa e resposta de seguimento de frequência em silêncio (Q) e no ruído (N): +5QNR e +10QNR. Resultados: Os resultados não mostraram diferença estatisticamente significante entre os dois grupos no que diz respeito ao QI ou PTA. No grupo de estudo, a análise avançada da resposta de seguimento de frequência mostrou amplitudes reduzidas de F0 e F2. Os resultados também mostraram que o ruído tem um impacto nos componentes transitório e sustentado da resposta de seguimento de frequência no mesmo grupo. Conclusão: Crianças com transtorno do desenvolvimento da linguagem apresentam dificuldade no processamento da fala principalmente na presença de ruído de fundo. A resposta de seguimento de frequência é um procedimento eficiente que pode ser usado para avaliar problemas de processamento de fala em crianças com transtorno do desenvolvimento da linguagem.

Estrategia pedagógica para la corrección del retraso del lenguaje en niños preescolares

RESUMEN Fundamento El retraso del lenguaje es un trastorno que repercute negativamente en el desarrollo del niño, por lo que su corrección desde edades tempranas constituye un imperativo, para garantizar un desarrollo integral. Para su atención logopédica es importante la integralidad de las acciones que se desarrollan, las cuales deben involucrar también a las familias. Objetivo exponer los resultados de una estrategia pedagógica para la corrección del retraso del lenguaje en niños preescolares. Métodos estudio de intervención, con diseño de antes y después, que involucró a cuatro niños y sus familias, así como a logopedas de la Escuela especial para niños con trastornos del lenguaje y la comunicación, Pepín Salvat Ladrón de Guevara, del municipio Santiago de Cuba. Además de la observación, se emplearon entrevistas, técnicas de exploración logopédica y las pruebas de diagnóstico del lenguaje: Inventario de Primeras Palabras, Peabody Picture Vocabulary Test y la Prueba de evaluación del lenguaje espontáneo. Resultados se evidenciaron avances en el desarrollo del lenguaje de los niños, tanto desde el punto de vista cualitativo como cuantitativo. Asimismo, se apreció una mayor comprensión y compromiso de las familias en el cumplimiento de las orientaciones recibidas para la atención logopédica a sus niños. Conclusión la estrategia diseñada para la atención integral al desarrollo del lenguaje de los niños preescolares resultó efectiva. Su enfoque integral, con la participación de las familias y los especialistas, garantizó el éxito de las acciones diseñadas.

ABSTRACT Background Language disability is a disorder that has a negative impact on child development, so its correction from an early age is imperative to ensure comprehensive development. For the logopedic care, the integrality of the actions that are developed is important, which must also involve the families. Objective to expose the results of a pedagogical strategy for the correction of language disability in preschool children. Methods intervention study, with a before and after design, which involved four children and their families, as well as speech therapists from the Pepín Salvat Ladrón de Guevara Special School for Children with Language and Communication Disorders, in the Santiago de Cuba municipality. In addition to observation, interviews, speech therapy exploration techniques and language diagnostic tests were used: First Word Inventory, Peabody Picture Vocabulary Test and the Spontaneous Language Assessment Test. Results advances in children's language development were evidenced, both from a qualitative and quantitative point of view. Likewise, a greater understanding and commitment of the families in complying with the guidelines received for the speech therapy care of their children was appreciated. Conclusion the strategy designed for comprehensive attention to the language development of preschool children was effective. Its comprehensive approach, with the participation of families and specialists, guaranteed the success of the designed actions.

Memória operacional e vocabulário em crianças com Transtorno do Desenvolvimento da Linguagem / Memoria operativa y vocabulario en niños con Trastorno del Desarrollo del Lenguaje / Working memory and vocabulary in children with Developmental Language Disorder

O objetivo deste estudo foi verificar se existe diferença no desempenho de crianças com Transtorno do Desenvolvimento da Linguagem (TDL) e Desenvolvimento Típico de Linguagem (DTL) em testes de memória operacional fonológica (MOF) e de memória visual de curto prazo (MVCP), e se esse desem-penho está correlacionado com o vocabulário receptivo. Selecionamos 14 crianças com TDL e 28 com DTL. Todos os sujeitos foram submetidos a dois testes de memória de curto prazo e a um teste de vocabulário receptivo. A comparação entre os grupos foi realizada por meio do Teste t de Student e a correlação entre a memória de curto prazo e o vocabulário foi obtida pela correlação de Pearson. Crian-ças com TDL tiveram pior desempenho quando comparadas ao grupo controle, tanto em MOF quanto em MVCP. A correlação positiva entre os testes de memória e vocabulário sugere que tanto a alça fo-nológica quanto a memória visual são importantes para o processamento da linguagem, mesmo que a alça fonológica possa ter maior relevância

The aim of this study was to verify if there is a difference in performance between children with Developmental Language Disorder (DLD) and typical language development (TLD) in phonological working memory (PWM) test and visual short-term memory (VSTM), and if this performance is correlated with the result of a receptive vocabulary test. We selected 14 children with DLD and 28 with TLD. All subjects underwent two short-term memory tests and a receptive vocabulary test. The comparison between the groups was performed using the Student's t-test, and the correlation between the short-term memory and the vocabulary was obtained by Pearson's correlation. Children with DLD had a worse performance when compared with the control group, both in PWM and VSTM. The positive correlation between memory and vocabulary tests suggests that both the phonological loop and visual memory are important for the processing of language, even if the phonological loop may have greater relevance.

El objetivo de este estudio fue verificar si existe una diferencia en el desempeño de los niños con Trastorno del Desarrollo del Lenguaje (TDL) y el desarrollo del lenguaje típico (DLT) en las pruebas de memoria operativa fonológica (MOF) y memoria visual a corto plazo (MVCP), y si ese desempeño es correlacionado con el vocabulario receptivo. Seleccionamos 14 niños con TDL y 28 con DTL. Todos los sujetos se sometieron a dos pruebas de memoria a corto plazo y a una prueba de vocabulario receptivo. La comparación entre grupos se realizó mediante la prueba t de Student y la correlación entre la memoria a corto plazo y el vocabulario se obtuvo mediante la correlación de Pearson. Los niños con TDL tuvieron un peor desempeño en comparación con el grupo de control, tanto en la MOF como en la MVCP. La correlación positiva entre las pruebas de memoria y vocabulario sugiere que tanto el bucle fonológico como la memoria visual son importantes para el procesamiento del lenguaje, aunque el bucle fonológico puede tener mayor relevancia.

Children with developmental language disorder: a frequency following response in the noise study.

INTRODUCTION: Children with developmental language disorder have been reported to have poor temporal auditory processing. This study aimed to examine the frequency following response. OBJECTIVE: This work aimed to investigate speech processing in quiet and in noise. METHODS: Two groups of children were included in this work: the control group (15 children with normal language development) and the study group (25 children diagnosed with developmental language disorder). All children were submitted to intelligence scale, language assessment, full audiological evaluation, and frequency following response in quiet and noise (+5QNR and +10QNR). RESULTS: Results showed no statically significant difference between both groups as regards IQ or PTA. In the study group, the advanced analysis of frequency following response showed reduced F0 and F2 amplitudes. Results also showed that noise has an impact on both the transient and sustained components of the frequency following response in the same group. CONCLUSION: Children with developmental language disorder have difficulty in speech processing especially in the presence of background noise. Frequency following response is an efficient procedure that can be used to address speech processing problems in children with developmental language disorder.

Bullying a personas con trastornos de la comunicación integradas en establecimientos escolares: rol de la fonoaudiología y sus implicancias en la salud comunicativa / Bullying of people with communication disorders integrated in schools: role of speech therapy and its implications for communicative health

El bullying es un fenómeno definido como una forma de agresión intencional que incluye actos verbales, físicos o psicológicos que ocurren en una relación con otras personas de manera reiterada, sistemática y sostenida en el tiempo. La mayor parte de los estudios se concentran en el bullying y las consecuencias en población escolar normotípica, sin embargo, existe poca exploración en el bullying que es resultado de un trastorno comunicativo. Es por ello que la labor de los fonoaudiólogos insertos en ámbitos educativos no es clara en explicitar los lineamientos de acciones terapéuticas que favorezcan la prevención de este fenómeno. El propósito de esta investigación es conocer las principales concepciones que los fonoaudiólogos tienen sobre el bullying en personas con trastornos de la comunicación en edad escolar. Con este objetivo, se realizó una investigación con métodos cuantitativos y cualitativos, mediados por encuestas y entrevistas en profundidad respectivamente. Se encontró que más del 65% del bullying entre personas dentro de los establecimientos educacionales se relaciona con niños de entre 9 y 12 años de edad con trastornos de la comunicación. En cuanto a la autopercepción del rol fonoaudiológico en el tema de la prevención e/o intervención en temas de bullying, emergen los conceptos de favorecer los aspectos del lenguaje y/o del habla en los niños que tienen dificultad, la sensibilización de los actores involucrados, el refuerzo del autoestima y el trabajo en equipo interdisciplinario. Finalizando el tratamiento analítico de las entrevistas, se establece que la Fonoaudiología cumpliría un papel fundamental en el abordaje del bullying en poblaciones con trastornos de la comunicación, siendo el profesional que actúa directamente sobre la salud comunicativa.

Bullying is a phenomenon defined as a form of intentional aggression that includes verbal, physical or psychological acts that occur in a relationship with other people in a repeated, systematic and sustained manner over time. Most of the studies focus on bullying and its consequences in the normal school population, however, there is little exploration of bullying that is the result of a communication disorder. This is why the work of speech therapists inserted in educational settings is not clear in explaining the guidelines for therapeutic actions that favor the prevention of this phenomenon. The purpose of this research is to know the main conceptions that speech-language pathologists have about bullying in people with communication disorders at school age. With this objective, an investigation was carried out with quantitative and qualitative methods, mediated by surveys and in-depth interviews, respectively. It was found that more than 65% of bullying between people within educational establishments is related to children between 9 and 12 years of age with communication disorders. Regarding the self-perception of the speech-language pathology role in the issue of prevention and/or intervention in bullying issues, the concepts of favoring aspects of language and/or speech in children who have difficulty emerge, raising awareness of the actors involved, the reinforcement of self-esteem and interdisciplinary teamwork. Completing the analytical treatment of the interviews, it is established that speech therapy would play a fundamental role in addressing bullying in populations with communication disorders, being the professional who acts directly on communicative health.

Processamento sintático e fonológico de crianças com dificuldades de aprendizagem / Syntactic and phonological processing of children with learning disabilities / Procesamiento sintáctico y fonológico de niños con dificultades de aprendizaje

Introdução: As dificuldades de aprendizagem são muito conhecidas pelo baixo desempenho escolar, porém, é importante diferenciá-las e entender suas origens e sintomas. Objetivo: Este estudo teve como objetivos verificar habilidades de processamentos fonológico e sintático em escolares com dificuldades de aprendizagem e investigar se alterações são sobrepostas, podendo indicar possível alteração de linguagem. Métodos: Participaram deste estudo 30 escolares, na faixa etária de sete a 11 anos, de ambos os gêneros, do 2º ao 5º ano do Ensino Fundamental, divididos em grupo experimental e controle. Foram avaliadas a nomeação rápida de figuras, repetição de pseudopalavras, leitura de palavras e pseudopalavras, consciência fonológica e compreensão do processamento sintático. Os resultados foram analisados por meio de testes estatísticos, Resultados: Observou-se diferença estatisticamente significativa entre os desempenhos dos participantes com e sem dificuldades de aprendizagem para a maioria das habilidades de processamento fonológico, indicando melhores resultados do grupo controle. Além disso, houve diferença de desempenho em função da idade para o grupo experimental nas tarefas de processamento fonológico, com melhores rendimentos de crianças mais velhas. A respeito do processamento sintático, não foram verificadas diferenças estatísticas significativas entre os grupos, sendo observada uma sutil diferença entre as idades apenas em relação à compreensão das relativas encaixadas de objeto com verbo transitivo. Conclusão: O desempenho das crianças com dificuldades de aprendizagem demonstra-se alterado somente para as habilidades de processamento fonológico. Quanto ao processamento sintático, os grupos apresentaram resultados semelhantes; no entanto é necessário aumentar o tamanho da amostra para resultados conclusivos.

Introduction: Learning difficulties are well known for poor school performance, however, it is important to differentiate them and understand their origins and symptoms. Objective: This study aimed to verify phonological and syntactic processing skills in students with learning difficulties and to investigate whether changes are overlapping, which may indicate possible changes in the underlying language. Methods: This study involved 30 schoolchildren, ages seven to 11, of both genders, from 2nd to 5th grade, divided into experimental and control group. Tools were used to evaluate the rapid naming of figures, repetition of pseudowords, reading of words and pseudowords, phonological awareness and understanding of syntactic processing. The results were analyzed through statistical tests. Results: A statistically significant difference was observed between the performances of participants with and without learning difficulties for most phonological processing skills, indicating better control group results. In addition, there was an age-related performance difference for the experimental group in phonological processing tasks, with better yields for older children. Regarding syntactic processing, no significant statistical differences were found between the groups, and a subtle difference between ages was observed only in relation to the understanding of the relative fit of object with transitive verb. Conclusion: The performance of children with learning difficulties is shown to have changed only for phonological processing skills. Regarding syntactic processing, the groups showed similar results; however it is necessary to increase the sample size for conclusive results.

Introducción: Las dificultades de aprendizaje son bien conocidas por el bajo rendimiento escolar, sin embargo, es importante diferenciarlas y comprender sus orígenes y síntomas. Objetivo: Este estudio tuvo como objetivo verificar habilidades de procesamientos fonológico y sintáctico en estudiantes con dificultades de aprendizaje y investigar si cambios se superponen, que puede indicar un posible cambio en el lenguaje subyacente. Metodos: Participaron de este estudio treinta estudiantes, de 7 a 11 años, de ambos sexos, de 2º a 5º de la primaria, divididos em grupo experimental y control. Se evaluó la denominación rápida de figuras, repetición de pseudopalabras, lectura de palabras y pseudopalabras, conciencia fonológica y comprensión del procesamiento sintáctico. Los resultados fueron analizados mediante pruebas estadísticas. Resultados: Se observó una diferencia estadísticamente significativa entre desempeños de participantes con y sin dificultades de aprendizaje para mayoría de las habilidades de procesamiento fonológico, indicando mejores resultados del grupo control. Además, hubo una diferencia en el desempeño en función de la edad para el grupo experimental en tareas de procesamiento fonológico, con mejores rendimientos de niños mayores. En relación al proceso sintáctico no se observan diferencias estadísticas considerables entre los grupos, observándose una pequeña diferencia entre edades solamente relacionada a la comprensión de relativas adecuadas de complemento con verbo transitivo. Conclusión: El desempeño de niños con dificultades de aprendizaje se muestra alterado solamente para habilidades de procesamiento fonológico. En cuanto al procesamiento sintáctico, los grupos mostraron resultados similares, sin embargo, es necesario aumentar el tamaño de la muestra para obtener resultados concluyentes.

Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea.

BACKGROUND: The switch/sucrose nonfermenting (SWI/SNF) complex is an adenosine triphosphate-dependent chromatin-remodeling complex associated with the regulation of DNA accessibility. Germline mutations in the components of the SWI/SNF complex are related to human developmental disorders, including the Coffin-Siris syndrome (CSS), Nicolaides-Baraitser syndrome (NCBRS), and nonsyndromic intellectual disability. These disorders are collectively referred to as SWI/SNF complex-related intellectual disability disorders (SSRIDDs). METHODS: Whole-exome sequencing was performed in 564 Korean patients with neurodevelopmental disorders. Twelve patients with SSRIDDs (2.1%) were identified and their medical records were retrospectively analyzed. RESULTS: ARID1B, found in eight patients, was the most frequently altered gene. Four patients harbored pathogenic variants in SMARCA4, SMARCB1, ARID2, and SMARCA2. Ten patients were diagnosed with CSS, and one patient without a typical phenotype was diagnosed with ARID1B-related nonsyndromic intellectual disability. Another patient harboring the SMARCA2 pathogenic variant was diagnosed with NCBRS. All pathogenic variants in ARID1B were truncating, whereas variants in SMARCA2, SMARCB1, and SMARCA4 were nontruncating (missense). Frequently observed phenotypes were thick eyebrows (10/12), hypertrichosis (8/12), coarse face (8/12), thick lips (8/12), and long eyelashes (8/12). Developmental delay was observed in all patients, and profound speech delay was also characteristic. Agenesis or hypoplasia of the corpus callosum was observed in half of the patients (6/12). CONCLUSIONS: SSRIDDs have a broad disease spectrum, including NCBRS, CSS, and ARID1B-related nonsyndromic intellectual disability. Thus, SSRIDDs should be considered as a small but important cause of human developmental disorders.

Transtorno do movimento estereotipado associado ao atraso da linguagem: dados de estudos de caso que contribuem para o diagnóstico diferencial / Stereotyped movement disorder associated with language delay -: data from case report that contribute to differential diagnosis / Trastorno del movimiento estereotipado asociado con el retraso del lenguaje: datos de estudios de casos que contribuyen al diagnóstico diferencial

Introdução: Movimentos repetitivos associados a alterações de linguagem representam dois importantes sinais de alerta para os TEA (Transtornos do Espectro do Autismo). Ainda que, segundo pesquisas atuais, o atraso na aquisição da linguagem não faça parte do conjunto de características comumente observadas em crianças na primeira infância com Transtorno do Movimento Estereotipado (TME), a sua coocorrência pode ser mais comum do que se imagina, o que pode levar a diagnósticos falso positivo para os TEA. Objetivo: Caracterizar o processo desviante de aquisição da linguagem associado ao TME, buscando diferenciar das características específicas aos TEA. Método: A presente pesquisa apresenta o relato de caso de duas crianças, na faixa etária dos 30 aos 36 meses, com importante atraso na aquisição da fala associado à presença de movimentos estereotipados, com perfis considerados de risco para o autismo. Resultados: Na primeira avaliação as duas crianças apresentavam escore médio referente ao número de sinais de alerta para os TEA. Após intervenção de 6 meses, para diagnóstico diferencial, houve queda no número de sinais de risco, como remissão de alguns comportamentos característicos dos TEA, melhora na intensidade dos movimentos repetitivos e aumento do repertório de fala. Conclusão: Ainda que a presença de movimentos repetitivos ou estereotipadas seja um dos sinais clássicos dos TEA, mesmo que coocorra com outras alterações igualmente sugestivas a este diagnóstico, como o atraso na fala, para que o diagnóstico seja conclusivo, é necessária a observação da presença de outros sintomas que se manifestam de forma persistente ao longo do desenvolvimento.

Introduction: The repetitive movements associated with language disorders represent two important warning signs for ASD (Autism Spectrum Disorders). Even if, according to current research, the delay in language acquisition may not be part of the set of characteristics commonly observed in toddlers with Stereotyped Movement Disorder (SMD), this co-occurrence of language impairment and Stereotyped Movement Disorder may be more common than can be imagined, which leads to mistaken ASD diagnoses. Objective: To characterize the deviant language acquisition process associated with SMD, seeking to differentiate the specific characteristics of ASD. Method: This research presents a case report of two toddlers, aged 30 to 36 months, with an important delay in the acquisition and development of speech associated with the presence of stereotyped movements, with profiles considered at risk for autism. Results: The first assessment showed important results indicating ASD for both children. After a 6-month intervention, there was a decrease in the number of risk signs, such as remission of some behavior characteristic of ASD, improvement in the intensity of repetitive movements and increase of the speech repertoire. Conclusion: Although the presence of repetitive or stereotyped movements is one of the classic signs of ASD, even if it co-occurs with other disorders equally suggestive to this diagnosis, such as delayed speech, for a conclusive diagnosis it is necessary the observation of other symptoms that manifest themselves persistently throughout development.

Introducción: Los movimientos repetitivos asociados con los cambios de lenguaje representa importantes señales de advertencia para los TEA (Trastornos del Espectro Autista). Aunque, según la investigación actual, el retraso en la adquisición del lenguaje no es parte del conjunto de características comúnmente observadas en niños en la primera infancia con trastorno de movimientos estereotipados, su coocurrencia puede ser más común de lo imaginado, lo que conduce a diagnósticos falsos positivos de TEA. Objetivo: Caracterizar el proceso de adquisición del lenguaje desviado asociado al Trastorno de Movimientos Estereotipados (TME), buscando diferenciar las características específicas de los TEA. Método: Esta investigación presenta el caso clínico de dos niños, de 30 a 36 meses, con un importante retraso en la adquisición y desarrollo del habla asociado a la presencia de movimientos estereotipados, con perfiles considerados en riesgo de autismo. Resultados: En la primera evaluación, los dos niños obtuvieron una puntuación media con respecto al número de señales de advertencia de TEA. Después de una intervención de 6 meses, diagnóstico diferencial, hubo una disminución en el número de signos de riesgo, como la remisión de algunos comportamientos característicos de los TEA, una mejora en la intensidad de los movimientos repetitivos y un aumento en el repertorio del habla. Conclusión: Si bien la presencia de movimientos repetitivos o estereotipados es uno de los signos clásicos de los TEA, aunque concurra con otros cambios igualmente sugestivos para este diagnóstico, como el retraso en el habla, para que el diagnóstico sea concluyente es necesaria la observación de la observación. otros síntomas que se manifiestan de forma persistente a lo largo del desarrollo.

Sociodemographic, clinical characteristics, and service utilization of young children diagnosed with autism spectrum disorder at a research center in Saudi Arabia: The road to autism spectrum disorder diagnosis.

OBJECTIVES: To assess how clinical services are accessed and utilized by young children with suspected autism spectrum disorder (ASD) and identifying factors that prevent the early identification of developmental concerns and diagnosis. METHODS: This retrospective study examined the sociodemographic and clinical characteristics of a convenience sample of children diagnosed with ASD at the Center for Autism Research, Riyadh, Saudi Arabia between 2016 and 2018. The characteristics of ASD assessment and intervention service use were examined. Additionally, we examined the association between sociodemographic, clinical, and service use variables with the child's age at the time of the parent's initial concern and first ASD diagnosis, and the time from first concern to diagnosis. RESULTS: Out of 127 cases, 67 were diagnosed with ASD (mean: 46.88 months, SD: 18.88, median: 42.00, range, 19-93). Most ASD cases had one previous assessment (n=28, 41.8%). Higher sibling numbers were associated with a later age of first concern (p=0.0278). Applied behavior analysis service utilization was associated with later age of first ASD diagnosis (p=0.0336) and longer time to ASD diagnosis (p=0.0301). CONCLUSION: Larger sample size is needed to further investigate whether these findings are representative of the national experience. Community-based intervention outcome studies should assess the quality of services being provided.

Late Language Emergence: A literature review.

Infants usually say their first word at the age of 12 months; subsequently, within the next 6-12 months, they develop a vocabulary of approximately 50 words, along with the ability to make two-word combinations. However, late talkers (LTs) demonstrate delayed speech in the absence of hearing impairments, cognitive developmental issues or relevant birth history. The prevalence of late language emergence (LLE) in toddlers is reported to be 10-15%. Studies of LTs are both theoretically and clinically significant. Early diagnosis and clinical intervention may result in relatively stable speech capabilities by the early school years. The present article aimed to review both theoretical and empirical studies regarding LLE within the process of first language acquisition, as well as methods for the early diagnosis of delayed speech in children and the authors' own clinical and theoretical recommendations.

Development of language and arithmetic skills: risk and protective factors. Comparative cross-sectional study

ABSTRACT BACKGROUND: In a literate society, linguistic/arithmetic performance is highly valued. Based on defined risk factors, strategies for promotion of better performance can be developed. OBJECTIVE: To ascertain the risk and protective factors relating to development of language and arithmetic. DESIGN AND SETTING: Observational comparative cross-sectional study at a public elementary school in Ribeirão Preto (SP), Brazil. METHODS: A total of 66 children (41% females) attending first to fifth grades participated in this study. They were divided into two groups: G1, children classified as presenting language or arithmetic deficits; G2, average performance. Language (oral and written) and arithmetic skills were assessed through standardized tests. Variables relating to social skills, home environment resources and behavioral problems were assessed through standardized scales. Data on other variables (pre, peri and postnatal complications, maternal variables and others) were collected through interviews. The logistic regression technique with LASSO was used (α = 0.05). RESULTS: Teenage pregnancy and consumption of psychoactive substances during pregnancy or complications during pregnancy were risk factors for performance regarding arithmetic and language. Higher schooling level for the mother was a protective factor in the development of arithmetic and language. Being female and having a history of otitis were risk factors for language. Altered social skills (responsibility and civility) and complaints of inattention were risk factor for arithmetic. Adequate linguistic development was a protective factor for the development of arithmetic. CONCLUSION: The risk/protective factors included variables relating to the gestational period, mother's age when pregnant, mother's schooling, social skills, behavior and development issues.

The Clinical Features of Preschool Children With Speech and Language Disorder and the Role of Maternal Language.

OBJECTIVE: To retrospectively review the characteristics of preschool children with speech and language disorders to determine their clinical features and compares the average degrees of language delay based on hospital visit purposes, language developmental delay causes, and maternal language. METHODS: One thousand one hundred two children (832 males, 270 females) with the chief complaint of language or speech problems who underwent language assessment for the first time were included. Their medical records, including demographic data, language environments, and family history of language problems and other developmental problems, were collected. Furthermore, the results of language and developmental assessments and hearing tests were collected. RESULTS: Among the children enrolled in this study, 24% had parental problems and 9% were nurtured by their grandparents. The average degree of language delay did not differ regarding purposes of hospital visits. The average degree of language delay was greatest in children with autism spectrum disorders and least in children with mixed receptive-expressive language disorders. In children with mothers who do not speak Korean as their native language, social quotients in the social maturity scale were less than 70. CONCLUSION: Language environment is an essential factor that may cause speech and language disorders. Moreover, maternal language seems to affect the social quotient of the social maturity scale.

Skraban-Deardorff syndrome: Six new cases of WDR26-related disease and expansion of the clinical phenotype.

Skraban-Deardorff syndrome (a disease related to variations in the WDR26 gene; OMIM #617616) was first described in a cohort of 15 individuals in 2017. The syndrome comprises intellectual deficiency, severe speech impairment, ataxic gait, seizures, mild hypotonia with feeding difficulties during infancy, and dysmorphic features. Here, we report on six novel heterozygous de novo pathogenic variants in WDR26 in six probands. The patients' phenotypes were consistent with original publication. One patient displayed marked hypotonia with an abnormal muscle biopsy; this finding warrants further investigation. Gait must be closely monitored, in order to highlight any musculoskeletal or neurological abnormalities and prompt further examinations. Speech therapy and alternative communication methods should be initiated early in the clinical follow-up, in order to improve language and oral eating and drinking.

Scoping review on noticing concerns in child development: a missing piece in the early intervention puzzle.

BACKGROUND: Between 13 and 32% of children in developed nations are at-risk for developmental delays. In order to identify concerns, there is a need to understand the mechanisms that facilitate becoming aware of it. AIM: A scoping review was conducted to understand this process of "noticing", through existing literature on parent experiences. METHODS: Records from major academic databases and grey literature sources were searched using key terms. Thematic analysis was then conducted to synthesise findings. RESULTS: Twenty papers meeting inclusion were identified. Noticing a delay was found to be an interplay between who notices - parents or other - and how they do so. How concerns are noticed was through two mechanisms: knowledge of child development, and comparison with other children. CONCLUSIONS: This review highlights the nuanced complexity of noticing concerns with a child's development. Understanding how this process occurs and the key ingredients that enable it is vital to supporting early detection of developmental delays.Implications for rehabilitationNoticing developmental delays is a complex process that evolves over time, derived of 'who' notices and 'how' this occurs.When asking parents about child development, professionals need to listen for both bolder "aha moments" as well as more subtle "niggling" comments as indicators of parental concerns.Building baseline parental knowledge of developmental milestones may facilitate noticing of atypical development.Encouraging parents to engage in social opportunities with other children promotes both positive child development and enables developmental monitoring through use of comparison.

QRICH1 variants in Ververi-Brady syndrome-delineation of the genotypic and phenotypic spectrum.

Ververi-Brady syndrome (VBS, # 617982) is a rare developmental disorder, and loss-of-function variants in QRICH1 were implicated in its etiology. Furthermore, a recognizable phenotype was proposed comprising delayed speech, learning difficulties and dysmorphic signs. Here, we present four unrelated individuals with one known nonsense variant (c.1954C > T; p.[Arg652*]) and three novel de novo QRICH1 variants, respectively. These included two frameshift mutations (c.832_833del; p.(Ser278Leufs*25), c.1812_1813delTG; p.(Glu605Glyfs*25)) and interestingly one missense mutation (c.2207G > A; p.[Ser736Asn]), expanding the mutational spectrum. Enlargement of the cohort by these four individuals contributes to the delineation of the VBS phenotype and suggests expressive speech delay, moderate motor delay, learning difficulties/mild ID, mild microcephaly, short stature and notable social behavior deficits as clinical hallmarks. In addition, one patient presented with nephroblastoma. The possible involvement of QRICH1 in pediatric cancer assumes careful surveillance a key priority for outcome of these patients. Further research and enlargement of cohorts are warranted to learn about the genetic architecture and the phenotypic spectrum in more detail.