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.

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.

[Non-epileptic disorders in infancy and adolescence]. / Crisis no epilépticas en la infancia y adolescencia.

Epilepsy affects 0.5% of the population. A 25% of the patients referred to epilepsy services have paroxysmal clinical events associated with motor activities, sensory or emotional alterations, or consciousness impairment, which are not epileptic seizures. The non-epileptic seizures can be classified as psychogenic, which do not have a medical cause, and are associated with primary or secondary psychological problems, and as of physiological origin. The non-epileptic events are manifested by paroxysmal or repetitive behaviors that might be confused with epileptic seizures. The diagnosis is very important in order to avoid unnecessary tests and iatrogenic therapies. This study will present clinical cases and review of the main non-epileptic physiological events (sleep disorders, movement disorders, hypoxic-ischemic phenomena) and psychogenic events (somatoform disorders, fictitious disorders and anxiety disorder).

Brazilian experts' consensus on the treatment of infantile epileptic spasm syndrome in infants.

BACKGROUND: Infantile epileptic spasms syndrome (IESS) is a rare but severe condition affecting children early and is usually secondary to an identifiable brain disorder. It is related to psychomotor deterioration in childhood and epilepsy in adult life. Treatment is challenging as infantile spasms may not respond to most antiseizure medication, and relapse is frequent. OBJECTIVE: To evaluate the literature regarding treatment of IESS and provide a practical guidance to a healthcare system with limited resources. METHODS: An expert committee from the Brazilian Society of Child Neurology reviewed and discussed relevant scientific evidence in the treatment of IESS regarding the drugs available in Brazil. RESULTS: Oral prednisolone and vigabatrin are the most common drugs used as first-line therapy; they are efficient and affordable therapy as both are available in the Brazilian unified health system (SUS, in the Portuguese acronym). Intramuscular adrenocorticotropic hormone (ACTH) presents similar efficacy as oral prednisolone but has a higher cost and is not available in Brazil. Other antiseizure medications such as topiramate, levetiracetam, or benzodiazepines have limited response and are prescribed as adjuvant therapy. If the health service has nutritionists, a ketogenic diet should be implemented for those not responding to hormonal and vigabatrin treatment. Epilepsy surgery is mainly indicated for patients with focal lesions that do not respond to pharmacological therapy. CONCLUSION: Early treatment of IESS with efficient drugs is feasible in our country. Using standard protocols increases the odds of achieving complete cessation in a shorter time and decreases relapse.

ANTECEDENTES: A síndrome do espasmo epiléptico infantil (IESS) é uma condição rara, mas grave, que afeta crianças precocemente e geralmente é secundária a um distúrbio cerebral identificável, estando relacionada a deterioração psicomotora na infância e a epilepsia na vida adulta. O tratamento é desafiador, pois os espasmos infantis podem não responder à maioria dos medicamentos anticrises e as recidivas são frequentes. OBJETIVO: Avaliar a literatura sobre o tratamento de IESS e fornecer uma orientação prática para um sistema de saúde com recursos limitados. MéTODOS: Um comitê de especialistas da Sociedade Brasileira de Neurologia Infantil revisou e discutiu evidências científicas relevantes no tratamento da IESS em relação aos medicamentos disponíveis no Brasil. RESULTADOS: Prednisolona oral e vigabatrina são os fármacos mais comumente usados como terapia de primeira linha; são eficientes e acessíveis, já que ambos estão disponíveis no sistema único de saúde brasileiro (SUS). O ACTH intramuscular apresenta eficácia semelhante à prednisolona oral, mas tem custo mais elevado e não está disponível no Brasil. Outros medicamentos anticonvulsivos, como topiramato, levetiracetam ou benzodiazepínicos, têm resposta limitada e são prescritos como terapia adjuvante. Se o serviço de saúde tiver nutricionista, deve-se implementar dieta cetogênica para aqueles que não respondem ao tratamento hormonal e vigabatrina. A cirurgia de epilepsia é indicada principalmente para pacientes com lesões focais que não respondem à terapia farmacológica. CONCLUSãO: O tratamento precoce da IESS com fármacos eficazes é factível em nosso meio. O uso de protocolos padronizados aumenta as chances de alcançar a cessação completa em um tempo menor e diminui a recaída.

Angiopathy and Stroke Associated with Homocystinuria in Childhood.

A previously healthy 13 year-old boy presented with acute-onset headaches, aphasia and right-sided hemiparesis. Imaging showed cerebral ischemic infarction due to bilateral carotid occlusion, and investigation for stroke etiology diagnosed homocystinuria. Homocystinuria is an autosomal recessive condition that affects the metabolism of the amino acid methionine due to an enzyme deficiency. This disorder involves multiple organs systems, and complications include thromboembolic events, ectopia lentis, mental retardation, and skeletal abnormalities. The early diagnosis and treatment of hyperhomocystinemia can significantly improve outcomes. Therefore, metabolic screening for homocystinuria is strongly recommended for children presenting with stroke.

Mosaic partial trisomy 19p12-q13.11 due to a small supernumerary marker chromosome: a locus associated with Asperger syndrome?

In the neurodevelopmentally impaired population the frequency of small supernumerary marker chromosomes (sSMC) is about 0.3%. To find the origin of a sSMC in a 4-year-old boy with Asperger syndrome (AS) a microarray-based comparative genomic hybridization (aCGH), using a 135K-feature whole-genome microarray, and Metaphase FISH analysis, was performed. The sSMC was characterized as being composed of 18.4 Mb from 19p12q13.11. Based on the size and genic content, it is expected that the partial trisomy detected is responsible for the characteristics observed in the patient. In that case it could be an indication of a novel locus associated with AS.

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.

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.

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.

[Study of 312 children with meningitis treated at a University Hospital in the South of Brazil]. / Estudio de 312 niños con meningitis atendidos en un Hospital Universitario en el Sur de Brasil.

The aim of this study is to evaluate the clinical and laboratorial aspects, as well as the etiological profile and the evolution characteristics, of the diverse types of severe meningitis treated at a Pediatric Clinic of a public university hospital. From a descriptive and retrospective study, 312 children at the Pediatric Clinic of the Hospital de Clínicas of the Federal University of Paraná were evaluated between January 2003 and January 2007. All of them had a probable diagnosis of meningitis based on clinical signs, and on the cytological and biochemical alterations in the cerebrospinal fluid routine examination. Viral meningitis (VM) was present in 140 children (45%), 58 had bacterial meningitis (BM - 19%) and etiology was undetermined in 114 (36%). In MB, Neisseria meningitidis was the most frequent etiological agent (25 cases). Predominant clinical symptoms were fever, sickness and headache. The cerebrospinal fluid test showed a high number of polymorphonuclear leukocytes, high protein and low glucose level in MB; mononuclear cells were predominant in VM. Neurological complications were more frequent in BM, and convulsion the most common symptom (6/58 patients). Death happened to one case in VM and 3 in BM. Our conclusions were that the classical triad (headache, vomiting and fever) was the most common clinical manifestation, the cytological and biochemical abnormalities were typical, helping in the differentiation of MB from VM, although a good number of cases ended up with no etiological definition and, finally, immediate neurological complications and death were rare.

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.

Association of lamotrigine and valproate in refractory epilepsies of children and adolescents.

OBJECTIVE: To evaluate the efficacy or eventual side-effects of the association of lamotrigine and sodium valproate in the control of refractory epilepsies. METHOD: A retrospective analysis of 37 children with a mean age of 12 years taking exclusively lamotrigine and sodium valproate. Efficacy of seizure control was considered satisfactory if there was a reduction in seizures>50% or total control. RESULTS: The association of lamotrigine and sodium valproate was considered satisfactory in 65% of the studied children, independent of seizure type. Total seizure control was obtained in 33% and 35% had an unsatisfactory response or remained unchanged. Primary generalized tonic clonic seizures were the most common type with 84% of day-time seizures having a good response to treatment. Side-effects were seen in 11% of patients and the most common was tremor. CONCLUSION: Total or satisfactory control of seizures was seen in the majority of patients and side-effects were uncommon.

Proton MR spectroscopy of the foramen of Monro region in patients with tuberous sclerosis complex.

PURPOSE: To evaluate with 1H-magnetic resonance spectroscopy (MRS) the metabolites rations of the foramen of Monro's region in patients with tuberous sclerosis complex (TSC). METHOD: Twelve patients with TSC and an age and gender-matched control group underwent MR imaging at a 1.5T scanner, and 1H-MRS at the foramen of Monro level with a multivoxel acquisition. Similar volumes of interest were selected in each side of the foramen of Monro and in the basal ganglia (lentiform nuclei). The obtained N-acetylaspartate (NAA), creatine (Cr) and choline (Cho) peak amplitude values and ratios were studied. The statistical analysis was performed and p<0.05 was considered statically significant. RESULTS: There was no significant difference between the NAA/Cr and Cho/Cr ratios near to the foramen of Monro and basal ganglia of the TSC patients compared with the controls (p>0.05). CONCLUSION: The NAA/Cr and Cho/Cr ratios near to the foramen of Monro and basal ganglia of TSC patients are similar to the rations obtained in the control group.

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.

Brazilian experts' consensus on the treatment of infantile epileptic spasm syndrome in infants / Consenso de especialistas brasileiros sobre o tratamento da síndrome dos espasmos infantis em lactentes

Abstract Background Infantile epileptic spasms syndrome (IESS) is a rare but severe condition affecting children early and is usually secondary to an identifiable brain disorder. It is related to psychomotor deterioration in childhood and epilepsy in adult life. Treatment is challenging as infantile spasms may not respond to most antiseizure medication, and relapse is frequent. Objective To evaluate the literature regarding treatment of IESS and provide a practical guidance to a healthcare system with limited resources. Methods An expert committee from the Brazilian Society of Child Neurology reviewed and discussed relevant scientific evidence in the treatment of IESS regarding the drugs available in Brazil. Results Oral prednisolone and vigabatrin are the most common drugs used as first-line therapy; they are efficient and affordable therapy as both are available in the Brazilian unified health system (SUS, in the Portuguese acronym). Intramuscular adrenocorticotropic hormone (ACTH) presents similar efficacy as oral prednisolone but has a higher cost and is not available in Brazil. Other antiseizure medications such as topiramate, levetiracetam, or benzodiazepines have limited response and are prescribed as adjuvant therapy. If the health service has nutritionists, a ketogenic diet should be implemented for those not responding to hormonal and vigabatrin treatment. Epilepsy surgery is mainly indicated for patients with focal lesions that do not respond to pharmacological therapy. Conclusion Early treatment of IESS with efficient drugs is feasible in our country. Using standard protocols increases the odds of achieving complete cessation in a shorter time and decreases relapse.

Resumo Antecedentes A síndrome do espasmo epiléptico infantil (IESS) é uma condição rara, mas grave, que afeta crianças precocemente e geralmente é secundária a um distúrbio cerebral identificável, estando relacionada a deterioração psicomotora na infância e a epilepsia na vida adulta. O tratamento é desafiador, pois os espasmos infantis podem não responder à maioria dos medicamentos anticrises e as recidivas são frequentes. Objetivo Avaliar a literatura sobre o tratamento de IESS e fornecer uma orientação prática para um sistema de saúde com recursos limitados. Métodos Um comitê de especialistas da Sociedade Brasileira de Neurologia Infantil revisou e discutiu evidências científicas relevantes no tratamento da IESS em relação aos medicamentos disponíveis no Brasil. Resultados Prednisolona oral e vigabatrina são os fármacos mais comumente usados como terapia de primeira linha; são eficientes e acessíveis, já que ambos estão disponíveis no sistema único de saúde brasileiro (SUS). O ACTH intramuscular apresenta eficácia semelhante à prednisolona oral, mas tem custo mais elevado e não está disponível no Brasil. Outros medicamentos anticonvulsivos, como topiramato, levetiracetam ou benzodiazepínicos, têm resposta limitada e são prescritos como terapia adjuvante. Se o serviço de saúde tiver nutricionista, deve-se implementar dieta cetogênica para aqueles que não respondem ao tratamento hormonal e vigabatrina. A cirurgia de epilepsia é indicada principalmente para pacientes com lesões focais que não respondem à terapia farmacológica. Conclusão O tratamento precoce da IESS com fármacos eficazes é factível em nosso meio. O uso de protocolos padronizados aumenta as chances de alcançar a cessação completa em um tempo menor e diminui a recaída.

Evaluation of the signs and symptoms of temporomandibular disorders in children with headaches.

PURPOSE: The purpose of this study was to evaluate the presence of signs and symptoms of temporomandibular disorders (TMD) in children with headaches in a neuropediatric ambulatory. METHOD: Fifty patients between 4 and 18 years of age were examined: 31 had headaches (24 migraine, 4 tension type and 3 unspecific headache) and 19 formed the control group. The data collection was comprised of a structured questionnaire answered by the children's parents, and a subjective evaluation about the childrens emotional state. A specific questionnaire for TMD was applied, followed by a clinical dental examination of the children. As signs of TMD, mouth opening limitation, mandibular trajectory deviation in opening mouth, and joint noise were considered. As symptoms, pain on palpation of masseter and temporal muscles and on the poromandibular joint. RESULTS: A significant increase in signs and symptoms of TMD was found in patients with headaches when compared to the control group. There was also a significant difference in signs and symptoms of TMD according to age (increased with age) and emotional state (tense>calm). CONCLUSION: There is a higher frequency of TMD in pediatric patients with headaches; thus, it is important to look for TMD signs and symptoms in this population.

[Syncope in infants and adolescents]. / Síncope en la infancia y adolescencia.

AIM: To review the syncope in infants and adolescents as well as its etiology, clinical manifestations, physiopathology, diagnostic methods and treatment. DEVELOPMENT: The syncope is a clinical entity characterized by sudden and transient loss of consciousness and postural tone, with a quick and complete recovery. The syncope is frequent in children and adolescents. The most common cause is neurocardiogenic (vasovagal), which has a benign evolution. Other causes may be neurological, cardiac and metabolic diseases, with a variable prognosis, which may come to be severe and potentially lethal. Evaluation of the syncope is mainly based on present clinical history, and on a detailed clinical examination. Basic complementary exams may help on the diagnosis, as a glycemia test, determination of electrolytes (sodium, potassium, magnesium), a hemogram and an electrocardiogram. The Tilt Test is "the" test to confirm the neurocardiogenic syncope. Treatment is indicated in syncopes with recurrent episodes or with risk of physical lesions. Prevention and education are indicated for all patients. Specific treatment should be individually given to each patient. In the case of neurocardiogenic syncope, beta-blockers, alpha-adrenergic stimulants, serotonin reuptake inhibitors, and fludrocortisone are used. In the frequently recurrent neurocardiogenic syncope, when preventive actions are not enough or there is risk of lesions in consequence of falls, beta-blockers, alpha-adrenergic stimulants, serotonin reuptake inhibitors, and fludrocortisone are used, as well as a pacemaker for severe cases non-responsive to pharmacological treatment. CONCLUSION: The syncope is a frequent clinical entity in infancy and adolescence, with benign evolution but potentially lethal. Diagnosis and correct etiology are important for the implementation of specific and early treatment.