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1.
Arq Neuropsiquiatr ; 82(7): 1-8, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38955213

RESUMO

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.


Assuntos
Testes Neuropsicológicos , Esclerose Tuberosa , Humanos , Esclerose Tuberosa/complicações , Esclerose Tuberosa/psicologia , Masculino , Feminino , Criança , Adolescente , Adulto , Adulto Jovem , Brasil , Pré-Escolar , Deficiência Intelectual/etiologia , Cognição/fisiologia , Epilepsia/psicologia , Transtorno do Espectro Autista/psicologia , Estudos de Coortes , Transtornos Cognitivos/etiologia
2.
Clin EEG Neurosci ; 52(6): 455-461, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33047612

RESUMO

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.


Assuntos
Eletroencefalografia , Epilepsia , Brasil , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Estudos Retrospectivos , Fatores de Risco , Convulsões/diagnóstico , Convulsões/epidemiologia
3.
Rev Paul Pediatr ; 40: e2020252, 2021.
Artigo em Inglês, Português | MEDLINE | ID: mdl-34346991

RESUMO

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.


Assuntos
Sucesso Acadêmico , Desenvolvimento Infantil , Cognição , Deficiências da Aprendizagem/diagnóstico , Adolescente , Criança , Estudos Transversais , Feminino , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Inteligência , Masculino , Gravidez , Escalas de Graduação Psiquiátrica
4.
Pediatr Neurol ; 40(2): 117-9, 2009 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-19135626

RESUMO

Neurofibromatosis type 1, or von Recklinghausen disease, is a progressive, autosomal dominant, monogenic disease. Spinal muscular atrophy is a progressive, autosomal recessive, monogenic disease. Specific anti-polysaccharide antibody deficiency is an immune disorder suspected in any child older than 2 years who suffers from recurrent respiratory tract infections or in patients with unusually severe complications from infections under appropriate treatment. Reported here is the coinheritance of two monogenic syndromes in the same patient, a novel association with specific anti-polysaccharide antibody deficiency.


Assuntos
Síndromes de Imunodeficiência/complicações , Atrofia Muscular Espinal/complicações , Neurofibromatose 1/complicações , Criança , Humanos , Masculino , Atrofia Muscular Espinal/genética , Neurofibromatose 1/patologia
5.
Arq. neuropsiquiatr ; Arq. neuropsiquiatr;82(7): s00441787797, 2024. tab, graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1568864

RESUMO

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.

6.
Arq Neuropsiquiatr ; 66(3A): 477-81, 2008 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-18813703

RESUMO

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.


Assuntos
Anticonvulsivantes/uso terapêutico , Epilepsia/tratamento farmacológico , Triazinas/uso terapêutico , Ácido Valproico/uso terapêutico , Adolescente , Distribuição por Idade , Anticonvulsivantes/efeitos adversos , Criança , Pré-Escolar , Quimioterapia Combinada , Epilepsia/etiologia , Feminino , Humanos , Lamotrigina , Masculino , Estudos Retrospectivos , Convulsões/prevenção & controle , Distribuição por Sexo , Resultado do Tratamento , Triazinas/efeitos adversos , Ácido Valproico/efeitos adversos , Adulto Jovem
7.
Arq Neuropsiquiatr ; 66(2B): 303-7, 2008 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-18641860

RESUMO

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.


Assuntos
Aminoácidos/metabolismo , Neoplasias do Ventrículo Cerebral/metabolismo , Ventrículos Cerebrais/metabolismo , Colina/metabolismo , Espectroscopia de Ressonância Magnética/métodos , Esclerose Tuberosa/metabolismo , Ácido Aspártico/análogos & derivados , Ácido Aspártico/análise , Astrocitoma/diagnóstico , Astrocitoma/metabolismo , Gânglios da Base/metabolismo , Biomarcadores Tumorais/metabolismo , Química Encefálica , Estudos de Casos e Controles , Criança , Creatina/análise , Detecção Precoce de Câncer , Feminino , Seguimentos , Humanos , Masculino , Estudos Prospectivos , Prótons
8.
Arq Neuropsiquiatr ; 65(2A): 251-5, 2007 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-17607423

RESUMO

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.


Assuntos
Emoções , Transtornos da Cefaleia/diagnóstico , Transtornos da Articulação Temporomandibular/diagnóstico , Adolescente , Fatores Etários , Estudos de Casos e Controles , Criança , Comportamento Infantil/fisiologia , Comportamento Infantil/psicologia , Pré-Escolar , Dor Facial/fisiopatologia , Feminino , Transtornos da Cefaleia/psicologia , Humanos , Masculino , Músculos da Mastigação/fisiopatologia , Transtornos de Enxaqueca/diagnóstico , Transtornos de Enxaqueca/psicologia , Distribuição por Sexo , Fatores Sexuais , Articulação Temporomandibular/fisiopatologia , Transtornos da Articulação Temporomandibular/complicações , Transtornos da Articulação Temporomandibular/fisiopatologia , Cefaleia do Tipo Tensional/diagnóstico , Cefaleia do Tipo Tensional/psicologia
9.
Arq Neuropsiquiatr ; 65(1): 157-60, 2007 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-17420847

RESUMO

Menkes disease is a rare neurodegenerative disorder due to an intracellular defect of a copper transport protein. We describe a 7 months male patient who presented with seizures, hypoactivity and absence of visual contact. The investigation disclosed pilli torti and thrycorrexis nodosa in the hair, low serum levels of both copper and ceruloplasmin, brain magnetic resonance study showed atrophy and white matter hypointensities on T1-weighted images, electroencephalogram reveals moderate background activity disorganization and epileptiform activity, and muscle biopsy with type 2 fiber atrophy. The clinical, laboratorial, genetic, muscle biopsy and neurophysiological findings in Menkes disease are discussed.


Assuntos
Ceruloplasmina/análise , Cobre/sangue , Síndrome dos Cabelos Torcidos/diagnóstico , Eletroencefalografia , Eletromiografia , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Síndrome dos Cabelos Torcidos/sangue
10.
Rev. Paul. Pediatr. (Ed. Port., Online) ; 40: e2020252, 2022. tab, graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1288039

RESUMO

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.

11.
Braz J Infect Dis ; 10(5): 322-6, 2006 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-17293919

RESUMO

This study evaluated the degree of neurological compromise in HIV-infected children accompanied by the outpatient clinic of infectious diseases and pediatric neurology of the Clinical Hospital of the Federal University of Paraná (UFPR) starting in 1995. Long-term progressive prospective and cross sectional study of 88 children infected by HIV and 84 seroreverter children, using data from general neurological examinations, neuroimaging procedures (brain CT scan) and neurodevelopmental tests (CAT/CLAMS and DENVER I and II). Neurological and neurodevelopmental alterations were found in 82% of the HIV-infected patients and in 36% of the HIV-seroreverter group (P<0.01). In the CAT/CLAMS test, the development quotient (DQ) of the HIV-infected group was significantly lower than that of the HIV-seroreverter group. CAT/CLAMS scores lower than 70 (mental deficiency) were found in 31% of the HIV-infected patients during the first year of life and in only 1% of the patients of the HIV-seroreverter group, demonstrating the validity of this screening test for precocious detection of alterations in the neurodevelopment of infected patients. The same occurred with the Denver I and II tests, as the HIV-infected group failed more frequently than the HIV-seroreverter group. Nine HIV-infected children presented altered brain CT scans; calcification of basal ganglia was the main finding (five cases). Encephalopathy due to HIV causes early arrest of neurodevelopment, which can be detected with screening tests during the first year of life.


Assuntos
Complexo AIDS Demência/diagnóstico , Desenvolvimento Infantil , Deficiências do Desenvolvimento/diagnóstico , Soronegatividade para HIV , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Exame Neurológico , Testes Neuropsicológicos , Estudos Prospectivos , Tomografia Computadorizada por Raios X
12.
Arq Neuropsiquiatr ; 64(3B): 877-80, 2006 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-17057903

RESUMO

OBJECTIVE: To report a case of subependymal giant cell astrocytoma (SEGA) in a patient with tuberous sclerosis, emphasizing the proton MR spectroscopy (MRS) findings. CASE: A three year-old boy with tuberous sclerosis presented with a 3-month history of mild headache. The physical examination showed discrete mental retardation and multiple hypomelanic macules in the legs and back. MRI showed many cortical tubers and subependymal nodules. At the left foramen of Monro, there was a 15 mm nodule, with heterogeneous signal on T1 and T2-weighted images, and strong enhancement after contrast administration. MRS study (multi-voxel PRESS, TE=144ms) showed the following ratios: a) left foramen of Monro nodule N-acetylaspartate (NAA)/creatine (Cr)=0.93 and Choline (Cho)/Cr=1.6 and b) at the right Monro foramen NAA/Cr=1.56 and Cho/Cr=1.29. CONCLUSION: The MRS performed at the SEGA may show high Cho/Cr and low NAA/Cr ratios, similar to the other brain neoplasms. As a consequence, MRS may be a valuable tool for the early detection of neoplastic transformation of subependymal nodules near the foramina of Monro in patients with tuberous sclerosis.


Assuntos
Astrocitoma/diagnóstico , Neoplasias Encefálicas/diagnóstico , Colina/análise , Creatina/análise , Esclerose Tuberosa/complicações , Astrocitoma/complicações , Astrocitoma/metabolismo , Biomarcadores Tumorais/análise , Neoplasias Encefálicas/complicações , Neoplasias Encefálicas/metabolismo , Pré-Escolar , Humanos , Espectroscopia de Ressonância Magnética , Masculino
13.
Arq Neuropsiquiatr ; 63(4): 969-71, 2005 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-16400414

RESUMO

OBJECTIVE: To describe the MRI findings of two pediatric patients with sudden sensorineural hearing loss (SSHL). CASE REPORTS: Two male patients (two-year and three-months-old, and one year and four-months-old) presented with sudden dumbness. Physical and neurological examinations were unremarkable besides bilateral hypoacusia. All the laboratory investigation was negative, and brain stem auditory evoked potentials showed deep bilateral deafness in both cases. MRI studies revealed normal inner ears and multifocal white matter areas of slight low signal on T1-weighted images and high signal on FLAIR images. The follow-up MRI studies and neurological examinations did not demonstrate alterations in the previous findings. CONCLUSION: Pediatric patients with SSHL may present cerebral white matter signal abnormalities at the MRI as the only finding. Further studies with larger casuistics need to be conducted to elucidate these findings.


Assuntos
Encéfalo/patologia , Perda Auditiva Bilateral/etiologia , Perda Auditiva Neurossensorial/etiologia , Perda Auditiva Súbita/etiologia , Pré-Escolar , Potenciais Evocados Auditivos do Tronco Encefálico , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino
14.
AJNR Am J Neuroradiol ; 24(5): 835-7, 2003 May.
Artigo em Inglês | MEDLINE | ID: mdl-12748080

RESUMO

We present the case of an 11-year-old female patient with tuberous sclerosis who had a right nasal mass. CT examination revealed fibrous dysplasia involving the frontal, ethmoid, sphenoid, and vomer bones. Biopsy findings of the mass confirmed this diagnosis, and follow-up revealed marked expansion of these lesions. The authors emphasize the association of bone abnormalities and tuberous sclerosis and discuss the consideration of fibrous dysplasia as a component of this syndrome.


Assuntos
Displasia Fibrosa Óssea/complicações , Septo Nasal , Crânio , Esclerose Tuberosa/complicações , Criança , Feminino , Displasia Fibrosa Óssea/diagnóstico por imagem , Humanos , Septo Nasal/diagnóstico por imagem , Crânio/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Esclerose Tuberosa/diagnóstico por imagem
15.
Arq Neuropsiquiatr ; 60(2-A): 239-41, 2002 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-12068352

RESUMO

We describe four patients with clinical features of Landau-Kleffner syndrome and discuss electroencephalographic features, treatment and prognosis. Anticonvulsants and prednisone were used for treatment with good control of seizures in all cases and a less effect response in acquired aphasia. Further studies are necessary to elucidate the causes and management of this syndrome.


Assuntos
Anticonvulsivantes/uso terapêutico , Síndrome de Landau-Kleffner/tratamento farmacológico , Fatores Etários , Criança , Pré-Escolar , Eletroencefalografia , Feminino , Humanos , Síndrome de Landau-Kleffner/diagnóstico , Masculino , Prednisona/uso terapêutico
16.
Arq Neuropsiquiatr ; 61(3A): 671-6, 2003 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-14513179

RESUMO

Septo-optic dysplasia (SOD) is a syndrome composed by optic nerve and septum pellucidum dysgenesis. It has been classified into two subsets according to the embryogenesis and the neuropathological findings. Basically, the difference between these two groups is the presence or not of schizencephaly. The term SOD-Plus was recently proposed to describe SOD associated with cortical dysplasia. We report a 6-month-old female patient who presented absent visual fixation since 4 months of age and delayed psychomotor development. Neurological examination demonstrated spastic left hemiparesis and ophtalmological evaluation revealed bilateral optic disc hypoplasia. The head computed tomography (CT) scan showed absence of the septum pellucidum, ventricular asymmetry and schizencephaly. The magnetic resonance imaging (MRI) showed complete absence of the septum pellucidum associated to optic nerves and chiasma atrophy, schizencephaly and cortical dysplasia. The patient underwent an evoked potential examination with flash stimulation, which revealed bilateral absence of cortical evoked potential. She was referred to visual stimulation and physiotherapy. We emphasize the neuroimaging of this syndrome and stress the importance of the clinical investigation for patients with septum pellucidum dysgenesis on MRI or CT scans.


Assuntos
Nervo Óptico/anormalidades , Displasia Septo-Óptica/patologia , Septo Pelúcido/anormalidades , Algoritmos , Potenciais Evocados , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Displasia Septo-Óptica/diagnóstico por imagem , Tomografia Computadorizada por Raios X
17.
Arq Neuropsiquiatr ; 62(4): 963-8, 2004 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-15608952

RESUMO

We analyzed 31 children with myelomeningocele born between July 1990 and July 2000. Follow-up median was 24 months (6-68 months). Only 2 mothers had a known etiologic factor (diabetes mellitus). Twelve had the correct prenatal diagnosis. All children were born at term; 23 by cesarean; 13 had rupture of the membrane. Surgical correction had a 4 days median (1 to 44 days). Lumbosacral lesions were the most frequent (46%). Thirty patients were hydrocephalic, shunt was placed in 27. Meningitis was 4 times more frequent in shunted patients. Seven became epileptic (19.4%). Denver II test showed significant delay in gross motor development. Neurogenic bladder was diagnosed in 12 patients. Congenital clubfoot was the main orthopedic malformation (53%). Six infants died. Nowadays, 17 patients are being followed. A multidisciplinary approach probably helps for a better quality of life.


Assuntos
Meningomielocele/epidemiologia , Distribuição por Idade , Brasil/epidemiologia , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Masculino , Meningomielocele/diagnóstico , Meningomielocele/etiologia , Prevalência , Estudos Retrospectivos , Distribuição por Sexo
18.
Arq Neuropsiquiatr ; 72(5): 360-7, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24863512

RESUMO

OBJECTIVE: Evaluate side-to-side discrepancies in children with hemiplegic cerebral palsy (HCP), and investigate associations of these discrepancies with patients' age at initiation of physical therapy, motor and cognitive function, and degree of activities and social participation. METHOD: We obtained eight side-to-side measurements from 24 HCP children with mean age 49.3±5.2 months. RESULTS: Early initiation of physical therapy was associated with lower discrepancy in hand length (p=0.037). Lower foot length discrepancy was associated with lower requirement for caregiver assistance in activities related to mobility. Increased side-to-side discrepancy was associated with reduced wrist extension and increased spasticity. Discrepancy played a larger role in children with hemineglect and in those with right involvement. CONCLUSION: Increased discrepancy in HCP children was associated with reduced degree of activity/social participation. These results suggest an association between functional use of the extremities and limb growth.


Assuntos
Paralisia Cerebral , Cognição/fisiologia , Crescimento/fisiologia , Hemiplegia , Atividade Motora/fisiologia , Participação Social , Fatores Etários , Antropometria , Paralisia Cerebral/patologia , Paralisia Cerebral/fisiopatologia , Paralisia Cerebral/terapia , Pré-Escolar , Estudos Transversais , Feminino , Hemiplegia/patologia , Hemiplegia/fisiopatologia , Hemiplegia/terapia , Humanos , Masculino , Força Muscular , Modalidades de Fisioterapia , Valores de Referência , Fatores de Tempo , Escalas de Wechsler
19.
Arq Neuropsiquiatr ; 72(3): 214-8, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24676439

RESUMO

UNLABELLED: The aim of the study was to analyze a series of Brazilian patients with Niemann-Pick disease type C (NP-C). METHOD: Correlations between clinical findings, laboratory data, molecular findings and treatment response are presented. RESULT: The sample consisted of 5 patients aged 8 to 26 years. Vertical supranuclear gaze palsy, cerebellar ataxia, dementia, dystonia and dysarthria were present in all cases. Filipin staining showed the "classical" pattern in two patients and a "variant" pattern in three patients. Molecular analysis found mutations in the NPC1 gene in all alleles. Miglustat treatment was administered to 4 patients. CONCLUSION: Although filipin staining should be used to confirm the diagnosis, bone marrow sea-blue histiocytes often help to diagnosis of NP-C. The p.P1007A mutation seems to be correlated with the "variant" pattern in filipin staining. Miglustat treatment response seems to be correlated with the age at disease onset and disability scale score at diagnosis.


Assuntos
Doença de Niemann-Pick Tipo C/genética , Doença de Niemann-Pick Tipo C/patologia , Adolescente , Adulto , Idade de Início , Biópsia por Agulha , Células da Medula Óssea/patologia , Encéfalo/patologia , Brasil , Proteínas de Transporte/genética , Células Cultivadas , Criança , Feminino , Fibroblastos , Humanos , Peptídeos e Proteínas de Sinalização Intracelular , Imageamento por Ressonância Magnética , Masculino , Glicoproteínas de Membrana/genética , Mutação , Proteína C1 de Niemann-Pick , Doença de Niemann-Pick Tipo C/tratamento farmacológico , Reação em Cadeia da Polimerase , Estudos Retrospectivos , Índice de Gravidade de Doença , Pele/patologia , Adulto Jovem
20.
Psico (Porto Alegre) ; 49(3): 257-265, 2018.
Artigo em Português | LILACS | ID: biblio-967489

RESUMO

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.


Assuntos
Psicologia da Criança , Desenvolvimento Infantil , Relações Mãe-Filho , Apego ao Objeto
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