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OBJECTIVE: YWHAG variant alleles have been associated with a rare disease trait whose clinical synopsis includes an early onset epileptic encephalopathy with predominantly myoclonic seizures, developmental delay/intellectual disability, and facial dysmorphisms. Through description of a large cohort, which doubles the number of reported patients, we further delineate the spectrum of YWHAG-related epilepsy. METHODS: We included in this study 24 patients, 21 new and three previously described, with pathogenic/likely pathogenic variants in YWHAG. We extended the analysis of clinical, electroencephalographic, brain magnetic resonance imaging, and molecular genetic information to 24 previously published patients. RESULTS: The phenotypic spectrum of YWHAG-related disorders ranges from mild developmental delay to developmental and epileptic encephalopathy (DEE). Epilepsy onset is in the first 2 years of life. Seizure freedom can be achieved in half of the patients (13/24, 54%). Intellectual disability (23/24, 96%), behavioral disorders (18/24, 75%), neurological signs (13/24, 54%), and dysmorphisms (6/24, 25%) are common. A genotype-phenotype correlation emerged, as DEE is more represented in patients with missense variants located in the ligand-binding domain than in those with truncating or missense variants in other domains (90% vs. 19%, p < .001). SIGNIFICANCE: This study suggests that pathogenic YWHAG variants cause a wide range of clinical presentations with variable severity, ranging from mild developmental delay to DEE. In this allelic series, a genotype-phenotype correlation begins to emerge, potentially providing prognostic information for clinical management and genetic counseling.
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Epilepsia , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Adulto Jovem , Estudos de Coortes , Deficiências do Desenvolvimento/genética , Eletroencefalografia , Epilepsia/diagnóstico por imagem , Epilepsia/genética , Epilepsia/patologia , Estudos de Associação Genética , Deficiência Intelectual/genética , Imageamento por Ressonância Magnética , FenótipoRESUMO
Background and Objectives: Ketogenic diet therapy (KDT) has been used as a non-pharmacological treatment for childhood refractory epilepsy. Its efficacy and safety have been described in numerous studies and reviews. However, there have been fewer studies evaluating the challenges experienced by patients and their family members when starting KDT. When implementing a new treatment method, challenges arise for both the healthcare professionals and patients, making it important to summarize the initial results and compare them with the experiences of other centers. To analyze and evaluate the efficacy and safety of KDT in children with epilepsy, as well as to consider the challenges faced by their parents/caregivers. Materials and Methods: A retrospective analysis of patients' data (N = 30) and an analysis of the completed questionnaires of the parents/caregivers (N = 22) occurred. Results: In the study group, 66.7% of the patients had a >50% decrease in seizure frequency, and 2/3 of them had a >90% decrease in seizure frequency or were seizure-free, which enabled reducing the anti-seizure medications in 36.4% of the patients, as well as reducing the hospital visits. Cognitive improvement and better alertness were subjectively reported by 59.1% of the parents/caregivers. No dangerous long-term adverse effects of KDT have been observed in the study group. The patients with generalized epilepsy experienced significantly more adverse events. Most of the adverse effects of KDT were related to the digestive system, but usually they were temporary and controllable. The challenges of the parents/caregivers were mostly related to social life issues and financial difficulties; the medical-related challenges were minimal. Conclusions: KDT is an effective and safe treatment option for children with drug-resistant epilepsy, and the challenges faced by families are resolvable. In order to ensure effective KDT, a multidisciplinary team is required. This would ensure smooth and comprehensive care and the timely resolution of emerging problems. The cooperation of the families undergoing KDT is also important, enabling them to share their experiences.
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Dieta Cetogênica , Humanos , Dieta Cetogênica/métodos , Dieta Cetogênica/efeitos adversos , Estudos Retrospectivos , Masculino , Feminino , Criança , Pré-Escolar , Epilepsia/dietoterapia , Resultado do Tratamento , Inquéritos e Questionários , Adolescente , LactenteRESUMO
Background and Objectives: Multiple sclerosis (MS) starts quite rarely in childhood, comprising just 3-10% of all diagnosed cases of MS population. The age of onset of the disease may be related to the initial phenotype and the prognosis of MS. The aim of the study is to assess the characteristics of the manifestation of MS in children. Materials and Methods: Two groups of patients were analyzed: those diagnosed with MS in childhood (0 < 18 years of age) and who developed MS in 2005-2021, and those diagnosed in adulthood (≥18 years old). The data were collected from the database of the Lithuanian University of Health Sciences Kauno Klinikos. Results: For the analysis, 105 patients were selected: 35 children (group A) and 70 adults (group B). At the onset of the disease, 62.9% of children and 70.0% of adults experienced visual disturbances (p > 0.05). Isolated symptoms were more common in children (65.7%) as compared to adults (28.6%), p < 0.001. Sensory disorders were more common in adults than in children (p < 0.001). Optic nerve and cerebral hemispheres were the most affected in group A (p < 0.05). During the first year after diagnosis, the median number of relapses in group A was higher (3, range 1-5) as compared to group B (1, range 1-2) (p < 0.001). Recovery time after a relapse was shorter in children as compared to adults (p < 0.001). Oligoclonal bands were found in 85.7% of children and in 98.6% of adults. Oligoclonal bands were less common in the childhood-onset than in the adult-onset group (p = 0.007). Conclusions: The initial symptoms of multiple sclerosis in pediatric patients usually appeared around the age of 16, with a similar frequency in boys and girls, and in most of the childhood cases the initial symptoms were limited to the dysfunction of a single part of the nervous system children usually started with visual disorders, while sensory, coordination and motor disorders were less common. The course of the disease in juvenile patients with MS was more aggressive in the first year as there were more relapses, but the functional impairment recovered faster as compared to adults.
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Esclerose Múltipla , Humanos , Esclerose Múltipla/complicações , Esclerose Múltipla/epidemiologia , Esclerose Múltipla/diagnóstico , Lituânia/epidemiologia , Bandas Oligoclonais , Nervo Óptico , RecidivaRESUMO
OBJECTIVE: To define the phenotypic spectrum of phosphatidylinositol glycan class A protein (PIGA)-related congenital disorder of glycosylation (PIGA-CDG) and evaluate genotype-phenotype correlations. METHODS: Our cohort encompasses 40 affected males with a pathogenic PIGA variant. We performed a detailed phenotypic assessment, and in addition, we reviewed the available clinical data of 36 previously published cases and assessed the variant pathogenicity using bioinformatical approaches. RESULTS: Most individuals had hypotonia, moderate to profound global developmental delay, and intractable seizures. We found that PIGA-CDG spans from a pure neurological phenotype at the mild end to a Fryns syndrome-like phenotype. We found a high frequency of cardiac anomalies including structural anomalies and cardiomyopathy, and a high frequency of spontaneous death, especially in childhood. Comparative bioinformatical analysis of common variants, found in the healthy population, and pathogenic variants, identified in affected individuals, revealed a profound physiochemical dissimilarity of the substituted amino acids in variant constrained regions of the protein. SIGNIFICANCE: Our comprehensive analysis of the largest cohort of published and novel PIGA patients broadens the spectrum of PIGA-CDG. Our genotype-phenotype correlation facilitates the estimation on pathogenicity of variants with unknown clinical significance and prognosis for individuals with pathogenic variants in PIGA.
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Variação Genética/genética , Hérnia Diafragmática/diagnóstico por imagem , Hérnia Diafragmática/genética , Deformidades Congênitas dos Membros/diagnóstico por imagem , Deformidades Congênitas dos Membros/genética , Proteínas de Membrana/genética , Adulto , Sequência de Aminoácidos , Criança , Estudos de Coortes , Eletroencefalografia/métodos , Fácies , Hérnia Diafragmática/fisiopatologia , Humanos , Recém-Nascido , Deformidades Congênitas dos Membros/fisiopatologia , Imageamento por Ressonância Magnética/métodos , MasculinoRESUMO
UNLABELLED: Disorders of executive functioning have recently been reported in patients with juvenile myoclonic epilepsy (JME); however, data on other syndromes of generalized idiopathic epilepsy (IGE) other than JME, especially in adolescence, are scarce. The aim of this study was to explore specific executive functions in a group of adolescents with IGE of short duration and to evaluate the possible factors that might influence these functions. MATERIAL AND METHODS: Neuropsychological investigation of executive functions (the Verbal Fluency Test, the Five-Point Test, the Trail-Making Test, and the Stroop test) was performed in 59 patients aged 14-17 years and meeting the diagnostic criteria for IGE, and in the group of 59 age-matched controls without any history of epilepsy. RESULTS: The IGE group subjects scored worse than the controls in most of the executive function tests: phonemic (P=0.008) and semantic (P=0.001) word fluency, figural fluency (P=0.008), visual search and sequencing of numbers (P=0.001), and alternate number-letter sequencing (P=0.018). None of the test scores differed between the new-onset and the established IGE groups, or between the groups of cases with and without myoclonias. No relationship between executive functioning and gender, age, duration or activity of epilepsy, chronic use of treatment, or epileptiform discharges on electroencephalography was found. CONCLUSIONS: Executive dysfunction was present in adolescents with JME and other syndromes of IGE, manifesting with generalized tonic-clonic seizures without myoclonias, despite short duration and benign course of epilepsy.
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Epilepsia Generalizada/fisiopatologia , Epilepsia Generalizada/psicologia , Função Executiva , Adolescente , Estudos Transversais , Feminino , Humanos , Masculino , Testes NeuropsicológicosRESUMO
Epilepsy surgery has been established as an effective treatment in pharmacoresistant focal epilepsies. Most candidates for epilepsy surgery are patients with partial epilepsy syndromes refractory to medical treatment. The curative surgery procedure is resection of the epileptogenic zone; therefore, precise detection of the site responsible for seizure generation is necessary. Modern structural and functional imaging techniques have made presurgical evaluation less invasive and available for a higher number of patients. Video electroencephalography (EEG) monitoring, high-resolution structural and functional imaging techniques are used widely for presurgical evaluation. When noninvasive evaluation is not sufficient for the detection of the epileptogenic zone, invasive EEG monitoring and intracarotid amobarbital test are used. A classical example of a surgically curable epilepsy syndrome is mesial temporal lobe epilepsy with about 70-80% of patients becoming free of seizures after surgery. Results in extratemporal epilepsies are also satisfactory. Despite worldwide expansion during the recent decade, epilepsy surgery remains underutilized. Better understanding of advances in presurgical evaluation should reduce fears of epilepsy surgery and help to select patients who could achieve complete seizure control or significant amelioration after surgery.
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Epilepsia/diagnóstico , Epilepsia/cirurgia , Adulto , Fatores Etários , Amobarbital , Eletroencefalografia/métodos , Epilepsia/tratamento farmacológico , Humanos , Imageamento por Ressonância Magnética/métodos , Testes Neuropsicológicos , Seleção de Pacientes , Tomografia por Emissão de Pósitrons/métodos , Período Pré-Operatório , Tomografia/métodos , Tomografia Computadorizada de Emissão de Fóton Único/métodos , Resultado do TratamentoRESUMO
BACKGROUND: Tuberous sclerosis complex (TSC) is a rare genetic disorder with multisystem involvement. A magnetic-resonance (MRI) based classification of tubers into types A, B and C has been proposed. However, the relationship between different tuber types and their quantitative characteristics, also the non-neurological manifestations of TSC remains unknown. AIMS: To quantitatively evaluate different MRI-defined tuber types and to explore their relationships with major disease manifestations in patients with tuberous sclerosis complex. METHODS: We performed quantitative manual assessment of tubers visible on T1W, T2W/FLAIR images and DW/ADC maps of 20 patients with TSC. Tubers were classified into types A, B and C based on their signal intensity on MRI. General clinical information and quantitative tuber characteristics were evaluated. Between-group comparisons were made using the nonparametric Mann-Whitney U test with Bonferroni correction. RESULTS: In total, 20 patients with 770 tubers were evaluated. Type A tubers were most numerous followed closely by Type B tubers, whereas Type C tubers were relatively rare. Tuber size was markedly different among the three tuber types: it increased from Type A to Type B to Type C. Infantile spasms, generalized-tonic clonic seizures, poor seizure control, cardiac rhabdomyomas, SEGA and developmental delay were not associated with quantitative tuber characteristics. Increased total Type B tuber load was associated with early onset epilepsy, while individually larger Type A and Type B tubers were associated with the presence angiomyolipoma (AML) and renal cysts. CONCLUSIONS: MRI-defined tuber types differ significantly in their size and number. Larger total Type B tuber load and larger individual Type A and Type B tubers were found to be most associated with early seizure onset and renal angiomyolipomas, respectively. One possible explanation for the observed differences in the clinical phenotype based on MRI-defined tuber types is not the intrinsic qualitative distinctions between different tuber types, but rather their individual size and total tuber load.
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Córtex Cerebral/diagnóstico por imagem , Processamento de Imagem Assistida por Computador , Imageamento por Ressonância Magnética , Túber Cinéreo/diagnóstico por imagem , Esclerose Tuberosa/diagnóstico por imagem , Adolescente , Córtex Cerebral/patologia , Criança , Pré-Escolar , Eletroencefalografia , Epilepsia/diagnóstico por imagem , Epilepsia/etiologia , Feminino , Humanos , Masculino , Transtornos do Neurodesenvolvimento/diagnóstico por imagem , Transtornos do Neurodesenvolvimento/etiologia , Estudos Retrospectivos , Esclerose Tuberosa/classificação , Esclerose Tuberosa/complicações , Esclerose Tuberosa/genéticaRESUMO
BACKGROUND: Glycosylphosphatidylinositol biosynthesis defects (GPIBDs) cause a group of phenotypically overlapping recessive syndromes with intellectual disability, for which pathogenic mutations have been described in 16 genes of the corresponding molecular pathway. An elevated serum activity of alkaline phosphatase (AP), a GPI-linked enzyme, has been used to assign GPIBDs to the phenotypic series of hyperphosphatasia with mental retardation syndrome (HPMRS) and to distinguish them from another subset of GPIBDs, termed multiple congenital anomalies hypotonia seizures syndrome (MCAHS). However, the increasing number of individuals with a GPIBD shows that hyperphosphatasia is a variable feature that is not ideal for a clinical classification. METHODS: We studied the discriminatory power of multiple GPI-linked substrates that were assessed by flow cytometry in blood cells and fibroblasts of 39 and 14 individuals with a GPIBD, respectively. On the phenotypic level, we evaluated the frequency of occurrence of clinical symptoms and analyzed the performance of computer-assisted image analysis of the facial gestalt in 91 individuals. RESULTS: We found that certain malformations such as Morbus Hirschsprung and diaphragmatic defects are more likely to be associated with particular gene defects (PIGV, PGAP3, PIGN). However, especially at the severe end of the clinical spectrum of HPMRS, there is a high phenotypic overlap with MCAHS. Elevation of AP has also been documented in some of the individuals with MCAHS, namely those with PIGA mutations. Although the impairment of GPI-linked substrates is supposed to play the key role in the pathophysiology of GPIBDs, we could not observe gene-specific profiles for flow cytometric markers or a correlation between their cell surface levels and the severity of the phenotype. In contrast, it was facial recognition software that achieved the highest accuracy in predicting the disease-causing gene in a GPIBD. CONCLUSIONS: Due to the overlapping clinical spectrum of both HPMRS and MCAHS in the majority of affected individuals, the elevation of AP and the reduced surface levels of GPI-linked markers in both groups, a common classification as GPIBDs is recommended. The effectiveness of computer-assisted gestalt analysis for the correct gene inference in a GPIBD and probably beyond is remarkable and illustrates how the information contained in human faces is pivotal in the delineation of genetic entities.
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Citometria de Fluxo/métodos , Glicosilfosfatidilinositóis/biossíntese , Processamento de Imagem Assistida por Computador , Anormalidades Múltiplas/metabolismo , Automação , Biomarcadores/metabolismo , Humanos , Deficiência Intelectual/metabolismo , Fenótipo , Distúrbios do Metabolismo do Fósforo/metabolismo , SíndromeRESUMO
We describe five boys from different families with an atypically severe form of Pelizaeus-Merzbacher disease (PMD) who have three, and in one case, five copies of the proteolipid protein (PLP1) gene. This is the first report of more than two copies of PLP1 in PMD patients and clearly demonstrates that severe clinical symptoms are associated with increased PLP1 gene dosage. Previously, duplications, deletions and mutations of the PLP1 gene were reported to give rise to this X-linked disorder. Patients with PLP1 duplication are usually classified as having either classical or transitional PMD rather than the more rare severe connatal form. The clinical symptoms of the five patients in this study included lack of stable head control and severe mental retardation, with three having severe paroxysmal disorder and two dying before the first year of life. Gene dosage was determined using interphase FISH (fluorescence in situ hybridization) and the novel approach of multiple ligation probe amplification (MLPA). We found FISH unreliable for dosage detection above the level of a duplication and MLPA to be more accurate in determination of specific copy number. Our finding that three or more copies of the gene give rise to a more severe phenotype is in agreement with observations in transgenic mice where severity of disease increased with Plp1 gene dosage and level of overexpression. The patient with five copies of PLP1 was not more affected than those with a triplication, suggesting that there is possibly a limit to the level of severity or that other genetic factors influence the phenotype. It highlights the significance of PLP1 dosage in CNS myelinogenesis as well as the importance of accurate determination of PLP1 gene copy number in the diagnosis of PMD and carrier detection.
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Proteínas de Membrana/genética , Proteína Proteolipídica de Mielina/genética , Doença de Pelizaeus-Merzbacher/genética , Encéfalo/patologia , Feminino , Dosagem de Genes , Humanos , Hibridização in Situ Fluorescente , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Técnicas de Amplificação de Ácido Nucleico/métodos , Doença de Pelizaeus-Merzbacher/patologiaRESUMO
The aim of this controlled historical cohort study was to assess the validity of post-concussion syndrome in children. We identified 301 children aged 4-15 years who had sustained an isolated brain concussion, and another group of 301 children who sustained any other mild body injury excluding the head. Parents from both groups filled in standardized questionnaires containing questions about the health condition of the children: headache, neck pain, dizziness, malaise, fatigability, exercise or noise intolerance, irritability, weepiness, sadness, anxiety, nocturnal enuresis, tics, sleep disorders, memory or learning difficulties, hyperactivity, seizures, attention disorder, buzzing in the ears, subjective parental concerns about the child's health condition, and parental concerns about their child having a brain disorder. The severity of the complaints was rated on the Visual Analogue Scale. After the final exclusion, 102 pairs strictly matched by sex, age, and the date of trauma were analyzed. The differences of parental complaints about the health condition of their children between case and control groups were statistically insignificant for all symptoms, except parental concerns about their child having brain damage which were significantly higher in the case group. The likelihood of parental concerns about the possibility of their child having brain damage was 2.7 times higher in the case group. Headache, learning difficulties, and sleep disorders were significant variables predicting the concerns. These results question the validity of the post-concussion syndrome in children.
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Síndrome Pós-Concussão/epidemiologia , Síndrome Pós-Concussão/fisiopatologia , Adolescente , Estudos de Casos e Controles , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Masculino , Medição da Dor , Estudos Retrospectivos , Inquéritos e QuestionáriosRESUMO
Psychosocial adjustment of adolescents with health disorders has been studied extensively. However, it is unclear whether different health disorders have specific impact on adjustment, or disorder in general relates to the development of adjustment difficulties as a factor limiting adolescent's physical and social activity. This study was aimed to identify peculiarities of psychosocial adjustment difficulties among hospitalized adolescents with neurological and physical disorders and secondary school students. The sample consisted of 738 adolescents (aged 12-18 years), of which 100 had neurological and 94 - physical disorders, and 544 secondary school students. Psychosocial adjustment difficulties were evaluated using Standardized Interview for the Evaluation of Adolescents' Problems. Results show that emotional-mood difficulties and low self-esteem are more prevalent and severe in the clinical groups comparing with the healthy controls, while the prevalence and the severity of conflicts are higher among students. Comparison of both clinical groups shows that neurological disorders are related to higher prevalence of difficulties in emotional and cognitive functioning and higher severity of suicidal tendencies, while physical disorders relate to higher prevalence of behavior difficulties.
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Adaptação Psicológica , Comportamento do Adolescente , Pacientes Internados/psicologia , Psicologia do Adolescente , Ajustamento Social , Adolescente , Criança , Interpretação Estatística de Dados , Feminino , Nível de Saúde , Humanos , Relações Interpessoais , Entrevistas como Assunto , MMPI , Masculino , Transtornos Mentais/diagnóstico , Transtornos Mentais/psicologia , Relações Pais-Filho , Tentativa de SuicídioRESUMO
OBJECTIVE: To investigate the clinical features and the prevalence of symptoms of post-concussion syndrome in children with mild traumatic brain injury, and to evaluate their changes over time. MATERIAL AND METHODS: The research involved two groups of 4-16 year-old children: the case group of 301 children who had experienced a single mild traumatic brain injury, and the control group of 301 children who had sustained any other mild body injury without head trauma. Groups were matched according to gender, age, and the date of admission to hospital. In total, 102 matched pairs were analyzed. The period between the date of the trauma and the examination was one to five years (median-27 months). Standardized questionnaires were sent by post to parents from both groups. Parents were asked about the health state as well as symptoms of post-concussion syndrome, their character and frequency. The respondents were inquired about the presence of the symptoms prior to the trauma, shortly after the trauma, and during the last year and the last month before the inquiry. RESULTS: The prevalence of headache, irritability, fears, sleep disorders, learning difficulties, as well as concentration and memory problems did not differ significantly between children with mild traumatic brain injury and the control group when the results of the last year before examination and the last month before the examination were compared. We have investigated how the period of time between the date of the trauma and the date when the questionnaire was filled in influenced the results. The comparison of the questionnaires that were filled a year (but less than two years) after the trauma to those that were filled in 2-5 years after the trauma revealed significant differences in the prevalence of a number of symptoms of the post-concussion syndrome. In children with mild traumatic brain injury, there was a significant decrease in the prevalence of learning difficulties soon after the trauma (p=0.032), headaches before (p=0.026) and soon after the trauma (p=0.01), and irritability the last month before the examination (p=0.043). In children from the control group, there was a significant decrease in the prevalence of concentration problems the last year before examination (p=0.023) and the last month before examination (p=0.036). CONCLUSIONS: More than one year after the trauma, the prevalence of the symptoms of the post-concussion syndrome is not significant higher in children with mild traumatic brain injury, compared to children with other mild body injuries, and is comparable by the changes over time.
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Lesões Encefálicas/complicações , Síndrome Pós-Concussão/diagnóstico , Adolescente , Fatores Etários , Lesões Encefálicas/epidemiologia , Criança , Pré-Escolar , Feminino , Seguimentos , Cefaleia/epidemiologia , Cefaleia/etiologia , Humanos , Deficiências da Aprendizagem/epidemiologia , Deficiências da Aprendizagem/etiologia , Masculino , Transtornos da Memória/epidemiologia , Transtornos da Memória/etiologia , Pais , Síndrome Pós-Concussão/epidemiologia , Prevalência , Transtornos do Sono-Vigília/epidemiologia , Transtornos do Sono-Vigília/etiologia , Inquéritos e Questionários , Fatores de TempoRESUMO
UNLABELLED: The aim of the study was to investigate the prevalence and clinical features of headaches and their accompanying signs in children with mild traumatic brain injury, as well as to evaluate their changes over time. MATERIAL AND METHODS: The research involved two groups of 4-16 year-old children: the case group of 301 children who had experienced a single mild traumatic brain injury, and the control group--301 children who had suffered from any other mild body injury without head trauma. Groups were matched according to gender, age, date of admission to hospital. The period between the date of trauma and examination was at least one year (median 7 months). Standardized questionnaires were sent by post to parents from both groups. Parents were asked about character, frequency, dizziness and concomitant symptoms. In total, 102 matched pairs were analyzed. RESULTS: During the year before the filling in the questionnaires 114 (57.3%) parents indicated headaches: 64 (62.7%) in the case, and 50 (49%) in control group. Frequent (> or =8 days per month) headaches prevailed in children with mild traumatic brain injury (p=0.039); however, their prevalence decreased from 43.8% to 12.5% (p=0.01) with increasing time interval between the date of trauma and the inquiry. By the character, duration, intensity of the headaches, none of the features (except dizziness) showed any difference between the groups. Thirty-three (51.6%) parents from the case and 16 (32%) from the control group indicated that dizziness accompanied headaches (p=0.036). Forty-five (44.1%) parents from the case group and 28 (27.5%) parents from the control group indicated that dizziness appeared separately from headaches (p=0.013). According to the data for the last month before the inquiry, there was no statistically significant difference between both groups when estimating the dynamics in time. CONCLUSIONS: Headaches are not more prevalent in children with mild traumatic brain injury, compared to children with other mild body injuries. The frequency of headaches, as well as the prevalence of dizziness in children with mild traumatic brain injury decreases with time.
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Lesões Encefálicas/complicações , Cefaleia/etiologia , Adolescente , Fatores Etários , Criança , Pré-Escolar , Tontura/etiologia , Feminino , Cefaleia/diagnóstico , Cefaleia/epidemiologia , Humanos , Masculino , Pais , Prevalência , Inquéritos e Questionários , Fatores de TempoRESUMO
THE AIM OF THE STUDY: To evaluate the effects of neuropsychological activation (NPA) tasks on epileptiform discharges in adolescents with idiopathic generalized epilepsy (IGE) and their possible relationship to clinical epilepsy-related factors, also to compare the effects of the NPA to the habitual methods of electroencephalographic (EEG) activation. METHODS/SUBJECTS: Fifty-nine patients with IGE aged 14-17 years underwent baseline video-EEG recording with habitual activation procedures followed by NPA tasks, and sleep EEG after sleep deprivation on the next day. RESULTS: At least one task of NPA showed provocative effect in 18.6% of cases. There was no difference between the provocative effects of action-programming and thinking NPA task groups as well as among individual NPA tasks. The provocative effects of NPA tasks were more prevalent in photosensitive cases, especially the tasks of action-programming type (p=0.04). The provocative NPA effects showed no relationship to gender, age, age at seizure onset, duration of epilepsy, treatment status, presence of myoclonias, recent generalized tonic-clonic seizures, family history of epilepsy. The provocative effects of NPA were comparable to those of hyperventilation (23.7%) and intermittent light stimulation (30.5%) (p>0.05). CONCLUSIONS: Although the provocative effects NPA tasks on epileptiform discharges on EEG did not outweigh the effects of the habitual activation procedures, NPA activation might be helpful as an additional diagnostic tool in adolescents with IGE in selected cases when routine EEG is not informative enough or when sleep EEG is readily unavailable, also in photosensitive cases. It may also help in providing advice for patients on safety issues.
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Encéfalo/fisiopatologia , Eletroencefalografia , Epilepsia Generalizada/fisiopatologia , Processos Mentais/fisiologia , Testes Neuropsicológicos , Adolescente , Envelhecimento , Epilepsia Generalizada/diagnóstico , Feminino , Seguimentos , Humanos , Hiperventilação/fisiopatologia , Masculino , Estimulação Luminosa/efeitos adversos , Caracteres Sexuais , Sono/fisiologia , Privação do Sono/fisiopatologia , Gravação em VídeoRESUMO
BACKGROUND: Language dysfunction in children with benign epilepsy with centrotemporal spikes (BECTS) has been well recognized but data regarding its risk factors are heterogenous. AIMS: To assess language function in children with BECTS and its association with the age of epilepsy onset. METHODS: We assessed language function in 61 children with BECTS and 35 age and sex-matched controls. Children with BECTS performed significantly worse on all language tasks as compared to controls and overall better language function was positively correlated with older age of the child. Early age at seizure onset demonstrated significant negative correlation with language dysfunction, age below 6 years being related to the lowest performance scores. There was no relationship between the language function and the laterality of epileptic focus, seizure treatment status, or the duration of epilepsy. CONCLUSION: Children with BECTS have language difficulties that are more pronounced in younger age group. Despite better language functioning in older children with BECTS, their verbal abilities remain inferior to those of children without epilepsy. Early age at seizure onset is a significant factor predicting worse language functioning in children with BECTS.