A dermatological assessment of pediatric patients with tuberous sclerosis complex (TSC)

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.

Neuropsychological profile in tuberous sclerosis complex: a study of clinical and cognitive variables in a cohort from Brazil.

BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder with a wide clinical, cognitive, and behavioral expressivity. OBJECTIVE: To assess the neuropsychological profile of individuals clinically diagnosed with TSC and the factors that could significantly impact their cognitive development. METHODS: A total of 62 individuals with ages ranging from 3 to 38 years were followed up in a tertiary attention hospital in Southern Brazil, and they were assessed using a standard battery and the Vineland Adaptive Behavior Scales, when intellectual disability was observed. RESULTS: History of epilepsy was found in 56 participants (90.3%), and 31 (50%) presented an intellectual disability. Among the other half of TSC individuals without intellectual disability, 8 (12.9%) presented borderline classification, 20 (32.2%) presented average scores, and 3 (4.8%) were above average. In total, 17 participants (27.4%) fulfilled the diagnostic criteria for autism spectrum disorder. The results of the multiple linear regression analysis suggested that seizures, age at diagnosis, visual perception, and general attention significantly impact cognitive performance indexes. CONCLUSION: The present study suggests that the occurrence of epileptic seizures and older age at diagnosis contribute to higher impairment in the domains of cognitive development, underlining the importance of early diagnosis and the prevention of epileptic seizures or their rapid control. The development of attentional skills, visual perception, and executive functions must be followed up.

ANTECEDENTES: O complexo da esclerose tuberosa (CET) é uma doença genética autossômica dominante com ampla expressividade clínica, cognitiva e comportamental. OBJETIVO: Avaliar o perfil neuropsicológico de indivíduos com diagnóstico clínico de CET e os fatores que poderiam impactar significativamente o seu desenvolvimento cognitivo. MéTODOS: Ao todo, 62 indivíduos com idades entre 3 e 38 anos foram acompanhados em um hospital terciário do Sul do Brasil e avaliados por meio de uma bateria padrão e das Escalas de Comportamento Adaptativo Vineland, quando observada deficiência intelectual. RESULTADOS: Encontrou-se histórico de epilepsia em 56 participantes (90,3%) e de deficiência intelectual em 31 (50%). Quanto à outra metade dos indivíduos com CET sem deficiência intelectual, 8 (12,9%) apresentaram classificação limítrofe, 20 (32,2%) apresentaram pontuações médias e 3 (4,8%) estavam acima da média. No total, 17 participantes (27,4%) preenchiam os critérios diagnósticos para o transtorno do espectro autista. Os resultados da análise de regressão linear múltipla sugeriram que as crises epilépticas, a idade ao diagnóstico, a percepção visual e a atenção geral impactam significativamente os índices de desempenho cognitivo. CONCLUSãO: Este estudo sugere que a ocorrência de crises epilépticas e a maior idade ao diagnóstico contribuem para um maior comprometimento nos domínios do desenvolvimento cognitivo, e destaca-se a importância do diagnóstico precoce e da prevenção das crises epilépticas ou do seu rápido controle. O desenvolvimento de habilidades de atenção, percepção visual e funções executivas deve ser acompanhado.

A dermatological assessment of pediatric patients with tuberous sclerosis complex (TSC).

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.

Neuropsychological profile in tuberous sclerosis complex: a study of clinical and cognitive variables in a cohort from Brazil / Perfil neuropsicológico no complexo da esclerose tuberosa: estudo de variáveis clínicas e cognitivas em uma coorte do Brasil

Abstract Background Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder with a wide clinical, cognitive, and behavioral expressivity. Objective To assess the neuropsychological profile of individuals clinically diagnosed with TSC and the factors that could significantly impact their cognitive development. Methods A total of 62 individuals with ages ranging from 3 to 38 years were followed up in a tertiary attention hospital in Southern Brazil, and they were assessed using a standard battery and the Vineland Adaptive Behavior Scales, when intellectual disability was observed. Results History of epilepsy was found in 56 participants (90.3%), and 31 (50%) presented an intellectual disability. Among the other half of TSC individuals without intellectual disability, 8 (12.9%) presented borderline classification, 20 (32.2%) presented average scores, and 3 (4.8%) were above average. In total, 17 participants (27.4%) fulfilled the diagnostic criteria for autism spectrum disorder. The results of the multiple linear regression analysis suggested that seizures, age at diagnosis, visual perception, and general attention significantly impact cognitive performance indexes. Conclusion The present study suggests that the occurrence of epileptic seizures and older age at diagnosis contribute to higher impairment in the domains of cognitive development, underlining the importance of early diagnosis and the prevention of epileptic seizures or their rapid control. The development of attentional skills, visual perception, and executive functions must be followed up.

Resumo Antecedentes O complexo da esclerose tuberosa (CET) é uma doença genética autossômica dominante com ampla expressividade clínica, cognitiva e comportamental. Objetivo Avaliar o perfil neuropsicológico de indivíduos com diagnóstico clínico de CET e os fatores que poderiam impactar significativamente o seu desenvolvimento cognitivo. Métodos Ao todo, 62 indivíduos com idades entre 3 e 38 anos foram acompanhados em um hospital terciário do Sul do Brasil e avaliados por meio de uma bateria padrão e das Escalas de Comportamento Adaptativo Vineland, quando observada deficiência intelectual. Resultados Encontrou-se histórico de epilepsia em 56 participantes (90,3%) e de deficiência intelectual em 31 (50%). Quanto à outra metade dos indivíduos com CET sem deficiência intelectual, 8 (12,9%) apresentaram classificação limítrofe, 20 (32,2%) apresentaram pontuações médias e 3 (4,8%) estavam acima da média. No total, 17 participantes (27,4%) preenchiam os critérios diagnósticos para o transtorno do espectro autista. Os resultados da análise de regressão linear múltipla sugeriram que as crises epilépticas, a idade ao diagnóstico, a percepção visual e a atenção geral impactam significativamente os índices de desempenho cognitivo. Conclusão Este estudo sugere que a ocorrência de crises epilépticas e a maior idade ao diagnóstico contribuem para um maior comprometimento nos domínios do desenvolvimento cognitivo, e destaca-se a importância do diagnóstico precoce e da prevenção das crises epilépticas ou do seu rápido controle. O desenvolvimento de habilidades de atenção, percepção visual e funções executivas deve ser acompanhado.

Influence of the selective insufflation technique on cerebral blood flow in preterm infants / Influência da técnica de insuflação seletiva no fluxo sanguíneo cerebral de prematuros

Abstract Introduction The intervention of respiratory physio-therapy in neonatal units is in continuous development, having its own care characteristics related to the weight and gestational age of the newborn, respecting the immaturity of the organs and systems and the diseases of this patient. Through techniques, the objective is to optimize the respiratory function, assisting in the clearance of secretions, and the restoration of lung volumes. Objective To verify if the respiratory physiotherapy technique of selective insufflation alters the cerebral blood flow in premature infants under 34 weeks of gestational age. Methods This is an uncontrolled clinical trial, conducted in a Neonatal Intensive Care Unit of a level III hospital, between January 2019 and March 2020, with participation of premature newborns under 34 weeks of gestational age. All were submitted to transfontanellar Doppler ultrasonography to assess cerebral blood flow measurements, mainly the resistance index, before and after the application of the selective insufflation respiratory physiotherapy technique. Results Sixty-two newborns were included, with a mean gestational age of 29.3 ± 2.2 weeks and birth weight of 1,259 ± 388 grams. The resistance index did not change significantly (RI before: 0.55 ± 0.07; after: 0.54 ± 0.07; p = 0.06) before and after the intervention and no studied variables such as, gender, gestational age, weight, Apgar score or SNAPPE II score had an influence on cerebral blood flow measurements. Conclusion The selective insufflation technique did not alter cerebral blood flow in premature newborn infants under 34 weeks gestational age.

Resumo Introdução A intervenção da fisioterapia respiratória nas unidades neonatais está em contínuo desenvolvimento, tendo características próprias de atendimento relacio-nadas ao peso e à idade gestacional do recém-nascido, respeitando a imaturidade dos órgãos e sistemas e as doenças desse paciente. Objetivo Verificar se a técnica de fisioterapia respiratória de insuflação seletiva altera o fluxo sanguíneo cerebral de prematuros menores de 34 semanas de idade gestacional. Métodos Trata-se de um ensaio clínico não controlado, realizado em uma Unidade de Terapia Intensiva Neonatal de um hospital nível III, entre janeiro de 2019 e março de 2020, com a participação de recém-nascidos prematuros menores de 34 semanas de idade gestacional. Todos foram submetidos ao exame de ultrassonografia transfontanela com Doppler para avaliar as medidas de fluxo sanguíneo cerebral, principalmente o índice de resistência, antes e depois da aplicação da técnica de fisioterapia respiratória de insuflação seletiva. Resultados Sessenta e dois recém-nascidos foram incluídos, com média de idade gestacional de 29,3 ± 2,2 semanas e peso de nascimento de 1259 ± 388 gramas. O índice de resistência não se modificou de forma significativa antes e depois da intervenção (IR antes: 0,55 ± 0,07; depois: 0,54 ± 0,07; p = 0,06) e nenhuma variável estudada, como sexo, idade gestacional, peso, escore de Apgar ou escore SNAPPE II, teve influência nas medidas de fluxo sanguíneo cerebral. Conclusão A técnica de insuflação seletiva não alterou o fluxo sanguíneo cerebral de recém-nascidos prematuros menores de 34 semanas de idade gestacional.

Occupational Therapy Using Ayres Sensory Integration®: A Randomized Controlled Trial in Brazil.

IMPORTANCE: Research conducted in the United States has found that occupational therapy using Ayres Sensory Integration® is an effective evidence-based intervention for children with autism spectrum disorder (ASD). Replication of this research in other cultures is needed. OBJECTIVE: To evaluate the outcomes of occupational therapy using Ayres Sensory Integration in a sample of Brazilian children with ASD. DESIGN: Prospective randomized controlled trial. SETTING: Occupational therapy clinic. PARTICIPANTS: Seventeen children with ASD ages 5-8 yr (n = 9 in the intervention group, n = 8 in the usual-care control group) recruited from a local hospital via flyers and word-of-mouth. Completed pretreatment characterization and baseline measurement. INTERVENTIONS: The intervention group received occupational therapy using Ayres Sensory Integration, and the control group received usual therapeutic and educational services only. OUTCOMES AND MEASURES: We conducted a pre-post assessment of self-care and socialization using the Pediatric Evaluation of Disability Inventory and individualized goal ratings. RESULTS: Participants in the intervention group scored significantly higher on outcome measures of self-care (p = .046, rb = .57), social function (p = .036, rb = .61), and parent-identified goal attainment (p < .001, rb = .94) compared with the control group. CONCLUSIONS AND RELEVANCE: Occupational therapy using Ayres Sensory Integration was effective in enhancing self-care, socialization, and goal attainment for children with ASD in a Brazilian cohort. What This Article Adds: This study contributes further support from outside the United States that occupational therapy using Ayres Sensory Integration is an effective evidence-based intervention to improve self-care, socialization, and parent-identified goal attainment in children with ASD.

Neurological, cognitive and learning evaluation of students who were born preterm / Avaliação neurológica, cognitiva e de aprendizagem de escolares nascidos prematuros

ABSTRACT Objective: To evaluate the cognitive and academic profile of preterm newborns at school age and to determine the factors related to prematurity and sociodemographic profile that influence these results. Methods: Patients aged 6-14 years old that were assisted in the preterm follow-up clinic were recruited. The cognitive, academic, and neurological capacities were accessed through a detailed evaluation with a child neurologist, a neuropsychologist and a psychopedagogue. Neonatal data were collected from patient records. Results: 97 children were included and 14 were excluded from the study, resulting in 83 children. Gestational age (GA) was 30±3 weeks and weight at birth was 1138g (605 to 4185g). Poor performance was shown in 38.4% for writing, 57.5% for reading and 42.5% for mathematics. The mean total intelligence quotient (IQ) was 96±14.9 points, and 10.9% were considered altered. Children with unstructured families presented 78.3% of failure in reading tests (p=0.029). The multivariate analysis showed association between GA at birth and classic mini-mental score (p=0.043), total IQ (p=0.047), perceptual organization IQ (p=0.035), and processing speed IQ (p=0.036). There was also association between weight at birth and the classic (p=0.004) and adapted (p=0.007) mini-mental scores; invasive mechanic ventilation duration and classic mini-mental (p=0.049); and lower maternal age and processing speed IQ (p=0.033). Conclusions: Preterm infants at school age had high frequency of failure in cognitive and academic evaluation tests. Learning difficulties are high among them. Multiple neonatal variables are related with altered cognitive and students development.

RESUMO Objetivo: Avaliar o perfil de desenvolvimento cognitivo e acadêmico de recém-nascidos pré-termo em idade escolar e indicar os fatores relacionados à prematuridade e ao perfil sociodemográfico que influenciam esse resultado. Métodos: Recrutaram-se pacientes com idades entre 6 e 14 anos que fizeram seguimento no ambulatório de acompanhamento de prematuros. As capacidades cognitiva, acadêmica e neurológica foram acessadas por avaliação pormenorizada com neuropediatra, neuropsicóloga e psicopedagoga. Buscaram-se os dados neonatais nos prontuários. Resultados: Foram incluídos 97 recém-nascidos pré-termo e excluídos 14, resultando em 83 crianças. A idade gestacional foi 30±3 semanas e o peso de nascimento 1138g (605; 4185g). Tiveram mau desempenho em escrita 38,4%, leitura 57,5% e matemática 42,5%. A média de quociente de inteligência total foi de 96,0±14,9 pontos, sendo 10,9% considerados alterados. Crianças com famílias desestruturadas apresentaram 78,3% de falha de leitura (p=0,029). Pela regressão multivariada, houve relação entre idade gestacional ao nascimento e pontuação no miniexame do estado mental (minimental) clássico (p=0,043), quociente de inteligência total (p=0,047), quociente de inteligência organização perceptual (p=0,035) e quociente de inteligência velocidade de processamento (p=0,036); entre peso ao nascer e minimental clássico (p=0,004) e adaptado (p=0,007); entre tempo de ventilação mecânica invasiva e minimental clássico (p=0,049); e entre idade materna mais baixa e quociente de inteligência velocidade de processamento (p=0,033). Conclusões: Os recém-nascidos pré-termo apresentaram alta frequência de falha nos testes de avaliação cognitiva e acadêmica. Uma série de intercorrências neonatais apresenta associação com alterações no desenvolvimento cognitivo e escolar.

Neurological, cognitive and learning evaluation of students who were born preterm.

OBJECTIVE: To evaluate the cognitive and academic profile of preterm newborns at school age and to determine the factors related to prematurity and sociodemographic profile that influence these results. METHODS: Patients aged 6-14 years old that were assisted in the preterm follow-up clinic were recruited. The cognitive, academic, and neurological capacities were accessed through a detailed evaluation with a child neurologist, a neuropsychologist and a psychopedagogue. Neonatal data were collected from patient records. RESULTS: 97 children were included and 14 were excluded from the study, resulting in 83 children. Gestational age (GA) was 30±3 weeks and weight at birth was 1138g (605 to 4185g). Poor performance was shown in 38.4% for writing, 57.5% for reading and 42.5% for mathematics. The mean total intelligence quotient (IQ) was 96±14.9 points, and 10.9% were considered altered. Children with unstructured families presented 78.3% of failure in reading tests (p=0.029). The multivariate analysis showed association between GA at birth and classic mini-mental score (p=0.043), total IQ (p=0.047), perceptual organization IQ (p=0.035), and processing speed IQ (p=0.036). There was also association between weight at birth and the classic (p=0.004) and adapted (p=0.007) mini-mental scores; invasive mechanic ventilation duration and classic mini-mental (p=0.049); and lower maternal age and processing speed IQ (p=0.033). CONCLUSIONS: Preterm infants at school age had high frequency of failure in cognitive and academic evaluation tests. Learning difficulties are high among them. Multiple neonatal variables are related with altered cognitive and students development.

The effectiveness of early parental coaching in the autism spectrum disorder

Abstract Objective Analysis of the effectiveness of early Parental Coaching in the Autism Spectrum Disorder. Method Randomized, controlled and blinded clinical trial to analyze parent-child interaction videos. Results The sample consisted of 18 children being followed up at the Autism Outpatient Clinic of a Neuropediatric Center in southern Brazil diagnosed with Autism Spectrum Disorder, between 29 and 42 months of age, randomly allocated to two groups: the Study Group (SG; n = 9), which received Parental Coaching performed by a professional certified by the Early Start Denver Model; and the Control Group (CG; n = 9), which was in a routine follow-up, without treatment and training of parents by a trained professional. The parents of the SG were willing to attend weekly meetings and to apply the instructional techniques at home with their children. It took 12 weeks and an average of 2 h per meeting. Conclusions The learning rate for comprehensive development skills in the Early Start Denver Model checklist, such as receptive communication, expressive communication, social capacity, imitation, cognition, games, fine motor skills, gross motor skills, behavior, and personal independence was significantly higher in the SG, as well as the strategies and the quality of interaction between parents and children. Thus, Parental Coaching presents as a possibility of early intervention in children with Autism Spectrum Disorder.

MECP2-related conditions in males: A systematic literature review and 8 additional cases.

OBJECTIVE: To present a cohort of 8 males and perform a systematic review of all published cases with a single copy of MECP2 carrying a pathogenic variant. METHODS: We reviewed medical records of males with a single copy of MECP2 carrying a pathogenic variant. We searched in Medline (Pubmed) and Embase to collect all articles which included well-characterized males with a single copy of MECP2 carrying a pathogenic or likely pathogenic variant in MECP2 (1999-2020). RESULTS: The literature search yielded a total of 3,185 publications, of which 58 were included in our systematic review. We were able to collect information on 27 published patients with severe neonatal encephalopathy, 47 individuals with isolated or familial mental retardation X-linked 13 (XLMR13), as well as 24 individuals with isolated or familial Pyramidal signs, parkinsonism, and macroorchidism (PPM-X). In our cohort, we met eight individuals aged 4 to 19-year-old at the last evaluation. Three MECP2-associated phenotypes were seen in male carriers of a single copy of the gene: severe neonatal encephalopathy (n = 5); X-linked intellectual deficiency 13 (n = 2); and pyramidal signs, parkinsonism, and macroorchidism (PPM-X) (n = 1). Two novel de novo variants [p.(Gly252Argfs∗7) and p.(Tyr132Cys)] were detected. CONCLUSION: In males, the MECP2 pathogenic variants can be associated with different phenotypes, including neonatal severe encephalopathy, intellectual deficiency, or late-onset parkinsonism and spasticity. The typical RS phenotype is not expected in males, except in those with Klinefelter syndrome or somatic mosaicism for MECP2.

The effectiveness of early parental coaching in the autism spectrum disorder.

OBJECTIVE: Analysis of the effectiveness of early Parental Coaching in the Autism Spectrum Disorder. METHOD: Randomized, controlled and blinded clinical trial to analyze parent-child interaction videos. RESULTS: The sample consisted of 18 children being followed up at the Autism Outpatient Clinic of a Neuropediatric Center in southern Brazil diagnosed with Autism Spectrum Disorder, between 29 and 42 months of age, randomly allocated to two groups: the Study Group (SG; n=9), which received Parental Coaching performed by a professional certified by the Early Start Denver Model; and the Control Group (CG; n=9), which was in a routine follow-up, without treatment and training of parents by a trained professional. The parents of the SG were willing to attend weekly meetings and to apply the instructional techniques at home with their children. It took 12 weeks and an average of 2h per meeting. CONCLUSIONS: The learning rate for comprehensive development skills in the Early Start Denver Model checklist, such as receptive communication, expressive communication, social capacity, imitation, cognition, games, fine motor skills, gross motor skills, behavior, and personal independence was significantly higher in the SG, as well as the strategies and the quality of interaction between parents and children. Thus, Parental Coaching presents as a possibility of early intervention in children with Autism Spectrum Disorder.

The First Unprovoked Seizure in Typically Developing Children: A Real-Life Setting in Southern Brazil.

AIM: To describe the first unprovoked seizure in typically developing children, its clinical characteristics, recurrence rate, and possible risk factors in a real-life setting in Southern Brazil. METHOD: In this retrospective cohort study, medical records of typically developing children aged 28 days to 14 years who had a first unprovoked seizure in a single tertiary care center were reviewed, in a 10-year period (2006-2016). RESULTS: Seventy-four children were included, 41 males and 33 females. The most frequent age group of the first seizure was 5 to 10 years and seizure main type was focal (50%). Most seizures occurred while children were awake (70%). All patients underwent an electroencephalogram (EEG), which was normal in 44.6%. Neuroimaging was performed in 81%, in 2 cases the etiology was considered structural, the remaining was classified as unknown. Median follow-up period was 32.5 months. Seizure recurrence rate was 56.7% and age younger than 5 years was a possible risk factor. INTERPRETATION: In the subpopulation of Brazilian typically developing children with a first unprovoked epileptic seizure there is a high recurrence rate. An abnormal EEG was a common finding, although it was not associated with a higher risk of seizure recurrence. A possible risk factor was age younger than 5 years, which may suggest a more rigorous follow-up of these patients.

Internet addiction and its correlation with behavioral problems and functional impairments - A cross-sectional study / Dependência de internet e sua correlação com sintomas comportamentais e prejuízos funcionais - Um estudo transversal

ABSTRACT Objective Evaluate the prevalence of internet addiction (IA) among adolescents, as well as characterize behaviors that are considered to be a risk in this population regarding the use and addiction of the Internet. Methods In this cross-sectional study conducted in one public and one private school 91 adolescents, aged 12 to 16 years old, responded the Internet Addiction Test - Brazilian version (IAT) and Child Behavior Checklist (CBCL). Results The prevalence of internet addiction found was 21%, with no difference between private and public schools. On the group dependent on the Internet, there was a statistically significant correlation with Anxiety/Depression, Withdrawn/Depression, Rule Breaking Behavior and Aggressive Behavior, as well as the syndrome scales Social Problems, Thought Problems and Attention Problems. Conclusion Our study provides evidence of a relationship between internet addiction and behavioral problems among adolescents. As this is a cross-sectional study, we consider that future research is necessary to corroborate our results.

RESUMO Objetivo Avaliar a prevalência da dependência de internet entre adolescentes, assim como caracterizar comportamentos de risco nessa população em relação ao uso e à dependência de internet. Métodos Estudo transversal analítico realizado em dois colégios, um público e um particular, com 91 adolescentes de idade entre 12 e 16 anos, que responderam aos questionários Internet Addiction Test - versão brasileira (IAT) e Child Behavior Checklist (CBCL). Resultados Entre a população estudada, a prevalência de dependência de internet encontrada foi de 21%, não havendo diferença entre as escolas pública e particular. No grupo dependente de internet, houve relação estatisticamente significativa com os sintomas Ansiedade/Depressão, Isolamento/Depressão e Comportamento Agressivo e de Quebrar Regras. As escalas Problemas Sociais, Problemas de Pensamento e Problemas de Atenção também se correlacionam à dependência de internet. Conclusão O presente estudo demonstra evidência de correlação entre a dependência de internet e sintomas comportamentais entre adolescentes. Por se tratar de um estudo transversal, contudo, esses dados devem ser vistos com cautela e pesquisas futuras são necessárias para corroborar nossos resultados.

Relação entre vínculo de apego e desenvolvimento cognitivo, linguístico e motor / Relationship between attachment bond and cognitive, language and motor development / Relación entre el vinculo de apego y el desarrollo cognitivo, lingüístico y motor

O estabelecimento de uma relação de apego segura é importante, pois fornece à criança segurança para que ela possa explorar o ambiente, atividade essencial para o desenvolvimento infantil. Este estudo tem como objetivo investigar se crianças com padrão de apego seguro e inseguro diferem quanto ao desempenho cognitivo, linguístico e motor. Participaram do estudo 50 crianças, com idades entre 12 e 25 meses. Foram utilizados um questionário de anamnese, a Situação Estranha de Ainsworth, as Escalas Bayley de Desenvolvimento Infantil ­ 3ª ed. e o questionário Estilo Materno como instrumentos de avaliação. Os resultados apontam diferença entre os grupos no desempenho cognitivo e de linguagem. Crianças com padrões inseguros de apego obtiveram menores escores nos testes que avaliam o desenvolvimento dos dois domínios. Estes resultados demonstram a importância da relação entre mãe e filho como um fator de proteção do desenvolvimento.

Establishing a secure attachment relationship is important because it provides security for the child to explore the environment, an essential activity for child development. This study aims to investigate whether children with a secure and insecure attachment pattern differ in cognitive, linguistic and motor performance. Fifty children, aged between 12 and 25 months, participated in the study. An anamnesis questionnaire, the Ainsworth Strange Situation, the Bayley Child Development Scales ­ 3rd ed. and the Maternal Style questionnaire were used as assessment tools. The results show a difference between groups in cognitive and language performance. Children with insecure attachment patterns had lower scores on tests that assessed the development of both domains. These results demonstrate the importance of the relationship between mother and child as a protective factor of development.

El establecimiento de una relación de apego seguro es importante porque proporciona seguridad al niño para que pueda explorar el ambiente, actividad esencial para el desarrollo infantil. En este estudio, se tiene como objetivo investigar si los niños con patrón de apego seguro e inseguro difieren en cuanto al desempeño cognitivo, lingüístico y motor. El estudio incluyó a 50 niños con edades comprendidas entre 12 y 25 meses. Se utilizó una ficha de anamnesis, la situación extraña de Ainsworth, las Escalas Bayley de Desarrollo Infantil ­ 3ª ed. y el cuestionario Estilo Materno como instrumentos de evaluación. Los resultados apuntam a una diferencia entre los grupos en el desempeño cognitivo y del lenguaje. Los niños con tipos de apego inseguro tenían puntuaciones más bajas en las pruebas que evalúan el desarrollo de los dos campos. Estos resultados demuestran la importancia de la relación entre la madre y el niño como un factor de protección del desarrollo.

Delinquency and association with behavioral disorders and substance abuse.

OBJECTIVE: to determine the incidence and associations of attention deficit-hyperactivity disorder (ADHD), conduct disorder (CD), and substance abuse disorder (SAD) in adolescents in conflict with the law in a Brazilian cohort. METHODS: the Brazilian version of the Schedule for Affective Disorders and Schizophrenia for School Aged-Children (K-SADS-PL) was administered to 69 adolescent boys who were incarcerated for 45 days in the city of Curitiba, Brazil. RESULTS: mean age was 15.5 years (range, 12-16.9 years) and most adolescents originated from disadvantaged social classes (87%). They resided in neighborhoods on the outskirts of the city or towns in the greater metropolitan area. Truancy and low educational achievement were common, with 73.9% not currently attending school and 43.4% not having finished the 5th grade. The great majority lived in single-parent families and many had relatives who themselves had problems with the law. Psychiatric disorders were apparent in 81.1% of the subjects, with the most common disorders being CD (59.4%), SAD (53.6%), and ADHD (43.5%). Both ADHD (p <0.001) and CD (p <0.01) had significant associations with substance abuse. CONCLUSION: in male adolescents in conflict with the law, ADHD, CD, and SAD were all found to be associated with delinquency.

Delinquency and association with behavioral disorders and substance abuse / Delinquência e associação de transtornos comportamentais com abuso de substâncias

Objective: to determine the incidence and associations of attention deficit-hyperactivity disorder (ADHD), conduct disorder (CD), and substance abuse disorder (SAD) in adolescents in conflict with the law in a Brazilian cohort. Methods: the Brazilian version of the Schedule for Affective Disorders and Schizophrenia for School Aged-Children (K-SADS-PL) was administered to 69 adolescent boys who were incarcerated for 45 days in the city of Curitiba, Brazil. Results: mean age was 15.5 years (range, 12-16.9 years) and most adolescents originated from disadvantaged social classes (87%). They resided in neighborhoods on the outskirts of the city or towns in the greater metropolitan area. Truancy and low educational achievement were common, with 73.9% not currently attending school and 43.4% not having finished the 5th grade. The great majority lived in single-parent families and many had relatives who themselves had problems with the law. Psychiatric disorders were apparent in 81.1% of the subjects, with the most common disorders being CD (59.4%), SAD (53.6%), and ADHD (43.5%). Both ADHD (p <0.001) and CD (p <0.01) had significant associations with substance abuse. Conclusion: in male adolescents in conflict with the law, ADHD, CD, and SAD were all found to be associated with delinquency. .

Objetivo: determinar a incidência e a associação entre transtorno de déficit de atenção e hiperatividade (TDAH), transtorno de conduta (TC) e transtorno de abuso de substâncias (TAS) em adolescentes brasileiros em conflito com a lei. Métodos: a versão brasileira do Schedule for Affective Disorders and Schizophrenia for School Aged-Children (K-SADS-PL) foi aplicada em 69 adolescentes do sexo masculino, encarcerados por 45 dias na cidade de Curitiba, Brasil. Resultados: a média de idade foi de 15,5 anos (variação 12 a 16,9 anos ) e a maioria dos adolescentes (87%) era procedente de classes sociais desfavorecidas e residia em bairros na periferia da cidade ou cidades da região metropolitana. Evasão escolar e baixo rendimento escolar foram comuns. Ao todo, 73,9% não frequentavam a escola e 43,4% não concluíram a 5ª série. A grande maioria vivia em famílias monoparentais e muitos tinham parentes de primeiro grau também com problemas com a lei. 81,1% dos adolescentes apresentaram problemas psiquiátricos, e os transtornos mais comuns foram TC (59,4%), TAS (53,6%) e TDAH (43,5%). Nos adolescentes, tanto com TDAH (p < 0,001) quanto com TC (p < 0,01), houve associação significativa com abuso de substâncias. Conclusão: em adolescentes do sexo masculino em conflito com a lei, houve uma associação significativa de TDAH e TC com TAS. .

Triagem cognitiva e comportamental de crianças com dificuldades de aprendizagem escolar: um estudo preliminar / Cognitive and behavioral screening of children with learning disabilities: a preliminary study / Selección cognitiva y conductual de niños con dificultades de aprendizaje escolar: un estudio preliminar

Avaliar a aplicabilidade do Mini-Mental State Examination (MMSE) e da lista de sintomas pediátricos (LSP) como teste de triagem cognitiva e de problemas psicossociais em crianças com dificuldades de aprendizagem. MÉTODOS: Estudo descritivo e transversal envolvendo 103 crianças entre seis e nove anos de uma escola pública de Curitiba (PR) com prováveis dificuldades de aprendizagem, realizado de 1º de março de 2002 a 30 de junho de 2009. Os dados foram obtidos simultaneamente por uma equipe multidisciplinar na avaliação inicial, com a aplicação do MMSE, da LSP e do Wechsler Intelligence Scale for Children (WISC III). Após 2007 o Child Behavior Checklist (CBCL) e o Teacher's Report Form (TRF) foram utilizados, sendo também comparados à LSP. Os coeficientes de correlação entre os testes foram calculados, sendo significante p<0,05. RESULTADOS: Das crianças analisadas, 10 por cento apresentavam algum tipo de dificuldade de aprendizagem, sendo 76 por cento do sexo masculino e 24 por cento do feminino. A faixa etária mais prevalente foi entre seis e sete anos de idade. História familiar positiva ocorreu em 45 por cento dos casos e antecedentes obstétricos em 18 por cento, sendo o baixo peso o mais frequente. O escore do MMSE mostrou correlação com o do WISC III (r=0,73) e o CBCL mostrou moderada correlação com o LSP (r=0,53). CONCLUSÕES: O MMSE e a LSP podem ser utilizados pelo pediatra como triagem cognitiva e de problemas psicossociais em crianças com dificuldade de aprendizagem.

To evaluate the applicability of the Mini-Mental State Examination (MMSE) and the Pediatric Symptom Checklist (PSC) as a screening test for cognitive and psychosocial problems in children with learning disabilities. METHODS: Descriptive and cross-sectional study involving 103 children aged 6 to 9 years, with possible learning disabilities, referred from a public school in Curitiba, Brazil, from March 1, 2002 to June 30, 2009. Data were simultaneously collected by a multidisciplinary team using the PSC, MMSE, and Wechsler Intelligence Scale for Children (WISC-III). From 2007 on the Child Behavior Checklist (CBCL) and Teacher's Report Form (TRF) were used and compared with the PSC. Correlation coefficients between the tests were calculated, with the significance level set at p<0.05. RESULTS: Among the studied children, 10 percent had some type of learning disability, 76 percent were male, and 24 percent were female. The most prevalent age group was 6 to 7 years. A positive family history was found in 45 percent of cases, and an adverse obstetric history in 18 percent, with low birth weight the most common issue. Correlations were detected between the MMSE and WISC-III (r=0.73) and between the CBCL and PSC (r=0.53). CONCLUSION: The MMSE and PSC can be used by pediatricians as screening tools for detection of cognitive and psychosocial problems in children with learning disabilities.

Evaluar la aplicabilidad del mini-mental state examination (MMSE) y de la lista de síntomas pediátricos (LSP) como prueba de selección cognitiva y de problemas psicosociales en niños con dificultades de aprendizaje. MÉTODOS: Estudio descriptivo y transversal implicando a 103 niños entre seis y nueve años de una escuela pública de Curitiba (Paraná, Brasil) con probables dificultades de aprendizaje, realizado desde el 1 de marzo de 2002 hasta el 30 de junio de 2009. Los datos se obtuvieron simultáneamente por un equipo multidisciplinario en la evaluación inicial, con la aplicación del MMSE, de la LSP y del Wechsler intelligence scale for children (WISC III). Después de 2007 el child behavior checklist (CBCL) y el teacher's report form (TRF) fueron utilizados, siendo también comparados a la LSP. Los coeficientes de correlación entre las pruebas fueron calculados, siendo significante p<0,05. RESULTADOS: De los niños analizados, el 10 por ciento presentaba algún tipo de dificultad de aprendizaje, siendo el 76 por ciento del sexo masculino y el 24 por ciento del femenino. La franja de edad más prevalente fue entre seis y siete años. Historia familiar positiva ocurrió en el 45 por ciento de los casos y antecedentes obstétricos en 18 por ciento, siendo el bajo peso el más frecuente. El escore del MMSE mostró correlación con el del WISC III (r=0,73) y el CBCL mostró moderada correlación con el LSP (r=0,53). CONCLUSIONES: El pediatra puede utilizar el MMSE y la LSP como selección cognitiva y de problemas psicosociales en niños con dificultad de aprendizaje.

Crescimento e antropometria em pacientes com paralisia cerebral hemiplégica / Growth and anthropometry in hemiplegic cerebral palsy patients

OBJETIVO: Analisar o crescimento linear, o perímetro cefálico e as diferenças antropométricas entre o lado envolvido e o não-envolvido de 24 crianças com paralisia cerebral (PC) hemiplégica, comparados à média para a idade. MÉTODOS: Estudo transversal com amostragem consecutiva de crianças com PC, classificadas clinicamente como hemiplegia espástica. As medidas antropométricas incluíram: peso, estatura, perímetro cefálico, comprimento total de membro superior, comprimento da mão, largura da palma da mão, comprimento total do membro inferior, comprimento do pé e a circunferência dos membros (braço, coxa e panturrilha). As diferenças antropométricas entre os dimídios foram calculadas em centímetros e como porcentagem de encurtamento, comparando o lado envolvido com o não-envolvido. Dois referenciais populacionais, tabelas de crescimento e o software ABase®, desenvolvido para sistema PalmOS, foram comparados na classificação das medidas do comprimento da mão e do pé. A análise estatística utilizou o coeficiente de correlação de Spearman para avaliar a associação entre variáveis quantitativas e o teste não-paramétrico de Wilcoxon para comparar as medidas do lado envolvido e não-envolvido. RESULTADOS: As médias de peso, estatura e perímetro cefálico se mostraram dentro dos limites normais para a idade e 21 por cento dos pacientes apresentaram microcefalia. A discrepância entre os dimídios foi evidente em todos os casos, sendo maior na largura e comprimento da mão. Houve correlação da dis observada entre os membros superiores e inferiores no lado envolvido (r=0,48) e a discrepância aumenta com a idade (r=0,44). CONCLUSÕES: O maior comprometimento no crescimento das crianças com paralisia cerebral estudadas ocorreu nos membros envolvidos pela hemiplegia e, em menor proporção, no perímetro cefálico.

OBJECTIVE: To analyze the linear growth, the head circumference and the anthropometric differences between involved and non-involved sides of 24 children with hemiplegic cerebral palsy, comparing them to standard values for age. METHODS: This cross-sectional study enrolled 24 consecutive children with cerebral palsy clinically classified as spastic hemiplegia. The anthropometric measures included: weight, lenght, head circumference, total upper limb length, hand length, palm width, total lower limb length, foot length, and limb circumference of upper-arm, thigh and calf. The anthropometric differences between both sides were calculated in centimeters and a comparison of the involved and non-involved sides was made. Two different reference values were used to compare the measures of hand and foot length: growth charts and the software ABase® (a PalmOS-based software). The Spearman's correlation coefficient was estimated for the association between quantitative variables and the Wilcoxon non-parametric test was used for age comparisons between involved and noninvolved sides. RESULTS: The mean values of weight, length and head circumference were within the normal range for age and 21 percent of the children presented microcephaly. Discrepancy was noted between both sides in all cases, being the largest discrepancy in hand length and width. There was a positive correlation between the discrepancy observed in superior and inferior affected limbs (r=0.48), and discrepancy increases with age (r=0.44). CONCLUSION: Growth impairment in children with hemiplegic cerebral palsy was observed on the affected limbs and in smaller proportion in head circumference.

Tratamento do estado de mal epiléptico em pediatria: revisão e proposta de protocolo / Treatment status epilepticus in children: revision and proposal of protocol

A definição do Estado de Mal Epiléptico (EME) compreende uma crise prolongada ou crises recorrentes sem recuperação da consciência por 30 minutos. Além de frequente, tem mortalidade e morbidade elevadas. Há várias propostas de abordagem, sem uniformidade. Realizar uma revisão do tratamento do EME e proposta de protocolo. Revisão na base de dados Medline, e proposta de um protocolo. A conduta inicial no EME é o estabelecimento de suporte de vida e uso de medicações efetivas. Os benzodiazepínicos são os medicamentos de primeira linha. Concomitante aos benzodiazepínicos utiliza-se fenitoína. Esta é eficaz em cessar a crise, porém com início de ação mento. O fenobarbital é a terceira droga mais usada, eficaz, porém as complicações podem indicar cuidados intensivos. O EME que não responde, considerado refratário, exige uso de midazolam em infusão contínua ou indução anestésica com barbitúricos, enquanto que propofol e outros tem sido menos usados. Aliando a revisão à experiência do serviço, realizamos uma proposição de abordagem ao EME. Há divergências nos protocolos de tratamento, e a relização de mais estudos com pacientes pediátricos poderia auxiliar o esclarecimento. O protocolo apresentado visa um tratamento eficaz com um mínimo de morbidade