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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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