Abstract Background Tuberous sclerosis complex (TSC) is a multisystem neurocutaneous syndrome with variable phenotypes. Recent updates of TSC diagnostic criteria reaffirmed the defined genetic diagnostic criterion as the finding of a pathogenic DNA alteration in either TSC1 or TSC2 genes. It also slightly modified definite clinical diagnostic criteria. TSC-associated skin lesions in infancy are important clinical signs to select individuals with possible TSC for a closer clinical follow-up and genetic testing. Objective To raise awareness of the updated TSC diagnosis criteria; to assess the frequency of skin lesions in TSC patients as well as the first dermatological presentation; and to associate the findings with either TSC1 or TSC2 mutations. Methods Observational cross-sectional study. Clinical and genetic data were retrospectively collected from 37 TSC patients from a Brazilian University Hospital. Patients with skin signs were examined and prospectively assessed for 12 months. Results The earliest cutaneous lesions were hypomelanotic macules, which together with angiofibromas were the most frequent dermatological lesions. The total pathogenic DNA alteration ratio between TSC2 and TSC1 genes was 8:1. The frequency of a TSC2 pathogenic variant was 10-fold greater in the presence of ungual fibromas. Study limitations Small sample and a limited number of patients with TSC1 pathogenic variants. Conclusion Clinicians should be knowledgeable about TSC updated diagnostic criteria. Patients need to be followed up by a multidisciplinary team and treated accordingly. Early detection of cutaneous lesions is important for TSC diagnosis. A significant association between TSC2 gene pathogenic alterations and ungual fibromas is described. (TSC phenotypes TSCassociated associated followup follow testing presentation mutations crosssectional cross sectional study 3 Hospital 1 months macules 81. 81 8 1. 8:1 10fold fold 10 variants accordingly described 8:

Abstract Background Down syndrome is the most commonly genetic cause of developmental delay and intellectual disability, affecting 1:700 live births. It is associated with heart disease and recurrent infections, among other complications that greatly impair the patient's quality of life. Objective To evaluate the major factors associated with quality of life in a cohort of patients with Down syndrome. Methods We assessed 1,187 patients with Down syndrome, older than 4 years old, with an adaptation of the Personal Outcomes Scale validated for Portuguese language, interviewing patients, parents, and caregivers. Results A bad quality of life was reported in 56.4% of the sample. The main factors associated with better quality of life were female sex, first medical visit before 4 months old, higher parental education, a professionally active mother, and prenatal care. The main factors associated with worse quality of life were family history of alcohol abuse and psychiatric disorders and comorbidity with autism and epilepsy. Conclusion Clinical comorbidities such as autism and epilepsy carry a heavy burden among patients with Down syndrome, while factors related to family support, such as employment status and educational background of the parents, enhance quality of life. The factors associated with quality of life among patients with Down syndrome should be adequately evaluated in medical consultation and targeted in public health policies. disability 1700 1 700 1:70 births infections patient s 1187 187 1,18 old language parents caregivers 564 56 56.4 sample sex education mother care support policies 170 70 1:7 118 18 1,1 5 56. 17 7 1: 11 1,

Resumo Antecedentes A síndrome de Down é a mais comum causa identificável de atraso de desenvolvimento e deficiência intelectual, afetando 1 a cada 700 nascidos vivos. Está associada a cardiopatias, infecções recorrentes e outras complicações que impactam significativamente a qualidade de vida dos pacientes. Objetivo Avaliar os principais fatores associados a qualidade de vida em uma coorte de pacientes com Síndrome de Down. Métodos Avaliamos 1.187 pacientes com síndrome de Down com mais de 4 anos de idade utilizando uma adaptação da versão validada para o português da Escala Pessoal de Resultados, entrevistando pacientes, pais e cuidadores. Resultados Uma má qualidade de vida foi encontrada em 56.4% da amostra. Os principais fatores associados à melhor qualidade de vida foram sexo feminino, primeira consulta médica antes dos 4 meses de idade, maior nível educacional dos pais, mãe profissionalmente ativa e atenção pré-natal. Os principais fatores associados à pior qualidade de vida foram o histórico familiar de abuso de álcool e distúrbios psiquiátricos, além de comorbidade com autismo e epilepsia. Conclusão As comorbidades clínicas como autismo e epilepsia levam a um maior impacto entre os pacientes com síndrome de Down, enquanto fatores relacionados ao apoio familiar, como situação profissional e formação educacional dos pais, estão associados à melhor qualidade de vida. Os fatores associados à qualidade de vida de pacientes com síndrome de Down devem ser adequadamente avaliados em consulta médica e alvo de políticas públicas de saúde. intelectual 70 vivos cardiopatias 1187 187 1.18 cuidadores 564 56 56.4 amostra feminino prénatal. prénatal pré natal. natal pré-natal psiquiátricos saúde 7 118 18 1.1 5 56. 11 1.

RESUMO Objetivo: Apresentar uma revisão crítica do uso de canabidiol no tratamento de epilepsias refratárias na população pediátrica. Fontes de dados: Revisão da literatura realizada nas bases de dados Medical Literature Analysis and Retrieval System Online (Medline/PubMed), Cochrane e Scientific Electronic Library Online (SciELO), com os descritores “cannabidiol” e “epilepsy”. A busca não foi limitada por data de publicação, idioma ou desenho do estudo. Sessenta e nove artigos foram incluídos na revisão. Síntese dos dados: A eficácia do canabidiol no tratamento de crises epilépticas foi confirmada por ensaios clínicos randomizados para síndrome de Lennox-Gastaut, síndrome de Dravet e complexo de esclerose tuberosa. A incidência de efeitos colaterais relatados nos indivíduos dos estudos é alta. No entanto, a maioria dos estudos indica um bom perfil de segurança e tolerância ao medicamento, com efeitos adversos leves a moderados e transitórios. Conclusões: Não há consenso sobre a liberação do canabidiol como ferramenta terapêutica nas diversas agências reguladoras de medicamentos em todo o mundo. Entretanto, seu uso é promissor, uma vez que apresentou resultados satisfatórios no controle de crises em estudos bem delineados. Além disso, esse medicamento apresenta um bom perfil de segurança e tolerância. No entanto, mais estudos com longo período de acompanhamento são necessários para confirmar sua utilidade e sua segurança em longo prazo em pacientes pediátricos.

Abstract Objective: The aim of this current report was to present a critical review of the use of cannabidiol (CBD) in the treatment of refractory epilepsies in the pediatric population. Data source: Literature review was carried out in the Medline (PubMed), Cochrane, and Scientific Electronic Library Online (SciELO) databases with the descriptors “Cannabidiol” and “Epilepsy.” The search was not limited by the date of publication, language, or study design. A total of 69 articles were included in the review. Data synthesis: The efficacy of CBD in treating epileptic seizures has been confirmed by randomized controlled trials for Lennox–Gastaut syndrome, Dravet syndrome, and tuberous sclerosis complex. The incidence of side effects reported in subjects of the studies is high. However, most studies indicate a good safety profile and tolerance to the drug, with most of the adverse effects being mild to moderate and transient. Conclusions: There is no consensus on the release of CBD as a therapeutic tool by the drug regulatory agencies worldwide. However, the use of CBD is promising since it has presented satisfactory results in crisis control in well-designed studies. In addition, this drug has a good safety and tolerance profile. However, further studies with a long follow-up period are needed to confirm its usefulness and the long-term safety in pediatric patients.

Abstract Introduction Nowadays, there is no consensus on whether central auditory processing disorder is a primary or a secondary deficit to other cognitive deficits. A better understanding of the association between cognitive functions and central auditory skills may help elucidate this dilemma. Objective To investigate possible associations between auditory abilities and cognitive functions in schoolchildren. Methods Fifty-eight schoolchildren, aged between 8 years and 0 months old and 11 years and 11 months old, who underwent the following tests: masking level difference, gaps in noise, pitch pattern sequence test, dichotic digits test, sustained auditory attention ability test, Wechsler intelligence scale for children - IV, junior Hayling test, five digits test, and behavior rating inventory of executive function. Results Significant correlations were found between the hearing ability of temporal resolution and executive functions, temporal ordering/sequencing, binaural integration and separation, and sustained auditory attention, operational memory, inhibitory control, and cognitive flexibility; binaural integration was also associated with intelligence. The statistically significant positive correlation found between the ability of binaural interaction and the components of emotional control and behavior regulation of the behavior rating inventory of executive function was unexpected. Conclusion The associations identified reinforce the complexity of the tasks involved in the evaluation of central auditory processing and the need for multidisciplinary evaluation for the differential diagnosis of auditory processing disorder. Confirmation of the presence or absence of comorbidities between different disorders allows directing the therapeutic behaviors and reducing the impact of possible auditory and/or cognitive deficits in the different daily life situations of children.

RESUMO: Objetivo: A participação em atividades esportivas e recreativas promove a inclusão e a qualidade de vida (QV) de crianças/adolescentes com deficiência. Este estudo visa avaliar e descrever o efeito do esporte adaptado (EA) na QV e o perfil biopsicossocial de crianças/adolescentes com paralisia cerebral (PC). Métodos: Foram avaliados e encaminhados ao EA (futebol e natação) 47 crianças e adolescentes com PC. A QV foi avaliada pelo Instrumento para Avaliação de Resultados de Reabilitação em Pediatria (IARPP) e o perfil biopsicossocial pela Lista de Verificação Comportamental para Crianças/Adolescentes (CBCL). Foram verificadas as influências de sexo, idade, raça, renda, escolaridade e topografia da espasticidade. Resultados: Dezessete crianças/adolescentes praticaram o EA e foram reavaliados após um ano. Foi observada melhora significativa nas dimensões transferências e mobilidade (p=0,009), função e extremidade superior (p=0,021) e função global (p=0,004) do IARRP. Houve melhora significativa considerando as síndromes problemas de atenção (p=0,026) e problemas de déficit de atenção e hiperatividade (p=0,008) na análise do Manual Diagnóstico e Estatístico de Transtornos Mentais (DSM) Orientado (CBCL). Crianças com diplegia obtiveram mais benefício que aquelas com hemiplegia em relação às dimensões dor e conforto (p=0,02) e dimensão global (p=0,027) (IARPP). Os meninos apresentaram maiores escores em total de competência (p=0,048); o grupo extremamente pobre obteve maiores índices na síndrome quebrar regras (p=0,008). Conclusão: O EA apresentou efeito positivo na QV e no perfil biopsicossocial das crianças e dos adolescentes com PC dessa amostra, especialmente considerando: função global e de extremidades superiores, capacidade para transferências e mobilidade, e benefícios nos problemas relacionados às dificuldades na atenção.

ABSTRACT Objective: The participation in sports and recreational activities promotes inclusion and the quality of life (QOL) for people with some type of disability. This study aims to evaluate and describe the effect of adapted sports (AS) on the QOL and biopsychosocial profile of children/adolescents with cerebral palsy (CP). Methods: Forty-seven children/adolescents with CP were evaluated and referred to AS (soccer and swimming). The QOL was evaluated by the Pediatric Outcome Data Collection Instrument (PODCI) and the biopsychosocial profile by the Behavior Checklist for Children/Adolescents (CBCL). These instruments considered the influence of gender, age, race, social income, education and topography of spasticity. Results: Seventeen children/adolescents who practiced AS were re-evaluated after one year. There was significant improvement in the dimensions of transfers and mobility (p=0.009), upper extremity function (p=0.021) and global function (p=0.004) of IARRP. There was significant improvement considering the attention disorder syndrome (p=0.026), and the attention deficit hyperactivity disorders (p=0.008) in the Diagnostic and Statistical Manual of Mental Disorders (DSM)-oriented analysis (CBCL). Children/adolescents with diplegia obtained greater benefit than those with hemiplegia in relation to the comfort and pain (p=0.02) and global dimension (p=0.027) (PODCI). The boys had higher scores in total competence (p=0.048); the extremely poor group obtained higher levels in the breaking rules syndrome (p=0.008). Conclusions: The AS had a positive effect on the QOL and biopsychosocial profile of children/adolescents with CP in this sample, especially considering the global and upper extremity function, capacity for transfers and mobility, and benefits in the problems related to difficulties in attention.

Neste estudo demonstramos a importância da avaliação e seguimento de crianças com dificuldades no aprendizado, através de equipe multidisciplinar, assim como determinar a necessidade de intervenção em pacientes deste grupo. Avaliamos 69 crianças, provenientes da Escola Estadual Aline Picheth, em Curitiba, cursando primeira ou segunda séries do primeiro grau, através de exame neurológico básico e evolutivo, lista de sintomas, avaliação linguística, social e psicológica (WISC-III, Bender Infantil, WPPSI-gravuras). Houve predominância de meninos (84,1%), presença de história familiar positiva em 42% e alterações de escrita em 56,5%. O diagnóstico encontrado com maior frequência foi déficit de atenção e hiperatividade, em 39,1%. Com este estudo, nós almejamos reduzir as taxas de retenção escolar e enfatizar a importância da avaliação e, se necessário, intervenção multidisciplinar em casos de dificuldades de aprendizado.

With this article we intend to demonstrate the importance of evaluation and follow up of children with learning disabilities, through a multidisciplinary team. As well as to establish the need of intervention. We evaluate 69 children, from Aline Picheth Public School, in Curitiba, attending first or second grade of elementary school, through general and evolutionary neurological examination, pediatric checklist symptoms, and social, linguistic and psychological (WISC-III, Bender Infantile and WPPSI-figures) evaluation. The incidence was higher in boys (84,1%), familiar history of learning disabilities was found in 42%, and writing abnormalities in 56,5%. The most frequent diagnosis was attention deficit and hyperactivity disorder, in 39,1%. With this program, we aimed to reduce the retention taxes and stress the importance of this evaluation, and, if necessary, multidisciplinar intervention in the cases of learning disabilities.