RESUMO
AIM: A Belgian registry for pediatric Crohn's disease, BELCRO, was created. This first report aims at describing disease presentation and phenotype and determining associations between variables at diagnosis and registration in the database. METHODS: Through a collaborative network, children with previously established Crohn's disease and newly diagnosed children and adolescents (under 18 y of age) were recruited over a 2 year period. Data were collected by 23 centers and entered in a database. Statistical association tests analyzed relationships between variables of interest at diagnosis. RESULTS: Two hundred fifty-five patients were included. Median age at diagnosis was 12.5 y (range: 1.6-18 y); median duration of symptoms prior to diagnosis was 3 m (range: 1-12 m). Neonatal history and previous medical history did not influence disease onset nor disease behavior. Fifty three % of these patients presented with a BMI z-score < -1. CRP was an independent predictor of disease severity. Steroids were widely used as initial treatment in moderate to severe and extensive disease. Over time, immunomodulators and biological were prescribed more frequently, reflecting a lower prescription rate for steroids and 5-ASA. A positive family history was the sole significant determinant for earlier use of immunosuppression. CONCLUSION: In Belgium, the median age of children presenting with Crohn's disease is 12.5 y. Faltering growth, extensive disease and upper GI involvement are frequent. CRP is an independent predictive factor of disease activity. A positive family history appears to be the main determinant for initial treatment choice.
Assuntos
Doença de Crohn/diagnóstico , Doença de Crohn/epidemiologia , Sistema de Registros , Adolescente , Distribuição por Idade , Idade de Início , Anti-Inflamatórios/uso terapêutico , Bélgica/epidemiologia , Criança , Pré-Escolar , Doença de Crohn/tratamento farmacológico , Progressão da Doença , Quimioterapia Combinada , Humanos , Imunossupressores , Lactente , Modelos Logísticos , Monitorização Fisiológica/métodos , Análise Multivariada , Prevalência , Prognóstico , Medição de Risco , Índice de Gravidade de Doença , Distribuição por Sexo , Estatísticas não ParamétricasRESUMO
Epilepsy and mental retardation limited to females (EFMR), caused by PCDH19 mutations, has a variable clinical expression that needs further exploration. Onset of epilepsy may be provoked by fever and can resemble Dravet syndrome. Furthermore, transmitting males have no seizures, but are reported to have rigid personalities suggesting possible autism spectrum disorders (ASD). Therefore, this study aimed to determine the phenotypic spectrum associated with PCDH19 mutations in Dravet-like and EFMR female patients and in males with ASD. We screened 120 females suffering from Dravet-like epilepsy, 136 females with EFMR features and 20 males with ASD. Phenotypes and genotypes of the PCDH19 mutation carriers were compared with those of 125 females with EFMR reported in the literature. We report 15 additional patients with a PCDH19 mutation. Review of clinical data of all reported patients showed that the clinical picture of EFMR is heterogeneous, but epilepsy onset in infancy, fever sensitivity and occurrence of seizures in clusters are key features. Seizures remit in the majority of patients during teenage years. Intellectual disability and behavioural disturbances are common. Fifty percent of all mutations are missense mutations, located in the extracellular domains only. Truncating mutations have been identified in all protein domains. One ASD proband carried one missense mutation predicted to have a deleterious effect, suggesting that ASD in males can be associated with PCDH19 mutations.
Assuntos
Caderinas/genética , Transtornos Globais do Desenvolvimento Infantil/epidemiologia , Transtornos Globais do Desenvolvimento Infantil/genética , Epilepsia/epidemiologia , Epilepsia/genética , Mutação/fisiologia , Adolescente , Caderinas/fisiologia , Criança , Transtornos Globais do Desenvolvimento Infantil/complicações , Pré-Escolar , Estudos de Coortes , Epilepsias Mioclônicas/epidemiologia , Epilepsias Mioclônicas/genética , Epilepsia/complicações , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Deficiência Intelectual/complicações , Deficiência Intelectual/epidemiologia , Deficiência Intelectual/genética , Masculino , Penetrância , Protocaderinas , Caracteres Sexuais , SíndromeRESUMO
OBJECTIVE: Classic infantile Pompe disease affects many tissues, including the brain. Untreated infants die within their first year. Although enzyme-replacement therapy (ERT) significantly increases survival, its potential limitation is that the drug cannot cross the blood-brain barrier. We therefore investigated long-term cognitive development in patients treated with ERT. METHODS: We prospectively assessed cognitive functioning in 10 children with classic infantile Pompe disease who had been treated with ERT since 1999. Brain imaging was performed in 6 children. RESULTS: During the first 4 years of life, developmental scores in 10 children ranged from above-average development to severe developmental delay; they were influenced by the type of intelligence test used, severity of motor problems, speech/language difficulties, and age at start of therapy. Five of the children were also tested from 5 years onward. Among them were 2 tetraplegic children whose earlier scores had indicated severe developmental delay. These scores now ranged between normal and mild developmental delay and indicated that at young age poor motor functioning may interfere with proper assessment of cognition. We found delayed processing speed in 2 children. Brain imaging revealed periventricular white matter abnormalities in 4 children. CONCLUSIONS: Cognitive development at school age ranged between normal and mildly delayed in our long-term survivors with classic infantile Pompe disease treated with ERT. The oldest was 12 years. We found that cognition is easily underestimated in children younger than 5 years with poor motor functioning.
Assuntos
Terapia de Reposição de Enzimas , Doença de Depósito de Glicogênio Tipo II/tratamento farmacológico , Doença de Depósito de Glicogênio Tipo II/psicologia , alfa-Glucosidases/uso terapêutico , Barreira Hematoencefálica/patologia , Encéfalo/patologia , Criança , Pré-Escolar , Cognição , Feminino , Doença de Depósito de Glicogênio Tipo II/patologia , Humanos , Lactente , Inteligência , Testes de Inteligência , Masculino , Estudos Prospectivos , Sobreviventes , Resultado do TratamentoRESUMO
Biologicals have become an important component in the treatment of Crohn's disease in children. Their increased and long term use raises safety concerns. We describe safety and cost of infliximab in Belgian pediatric Crohn's disease patients. All patients on infliximab as part of the present or past treatment for Crohn's Disease until January 1st 2011 were selected from an existing database. Information on disease phenotype, medication and adverse events were extracted. Adverse events occurred in 25.9% of patients exposed to infliximab of which 29.6% were severe. In total 31.7% of patients stopped infliximab therapy. The main reasons for discontinuation were adverse events in 45.4% and loss of response in 30.3%. No malignancies or lethal complications occurred over this 241 patient year observation period. Immunomodulators were concomitant medication in 75% of patients and were discontinued subsequently in 38.4% of them. The cost of infliximab infusions per treated patient per year in the Belgian health care setting is approximately 9 474 euro, including only medication and hospital related costs. Even though infliximab is relatively safe in pediatric CD on the short term, close follow-up and an increased awareness of the possible adverse reactions is highly recommended. Adverse reactions appeared in 25.9% of all patients and were the main reason for discontinuation. Treatment cost has to be balanced against efficacy and modifications in disease course. In the Belgian health care system, the medication is available to all patients with moderate to severe CD.
Assuntos
Anticorpos Monoclonais , Doença de Crohn , Monitoramento de Medicamentos , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos , Suspensão de Tratamento/estatística & dados numéricos , Adolescente , Anticorpos Monoclonais/administração & dosagem , Anticorpos Monoclonais/efeitos adversos , Anticorpos Monoclonais/economia , Bélgica/epidemiologia , Criança , Efeitos Psicossociais da Doença , Doença de Crohn/tratamento farmacológico , Doença de Crohn/economia , Doença de Crohn/epidemiologia , Monitoramento de Medicamentos/métodos , Monitoramento de Medicamentos/estatística & dados numéricos , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/classificação , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/epidemiologia , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/etiologia , Feminino , Fármacos Gastrointestinais/administração & dosagem , Fármacos Gastrointestinais/efeitos adversos , Fármacos Gastrointestinais/economia , Humanos , Infliximab , Infusões Intravenosas , Masculino , Conduta do Tratamento Medicamentoso , Farmacovigilância , Resultado do TratamentoRESUMO
Pompe disease is a rare neuromuscular disorder caused by deficiency of acid α-glucosidase. Treatment with recombinant human α-glucosidase recently received marketing approval based on prolonged survival of affected infants. The current open-label study was performed to evaluate the response in older children (age 5.9-15.2 years). The five patients that we studied had limb-girdle muscle weakness and three of them also had decreased pulmonary function in upright and supine position. They received 20-mg/kg recombinant human α-glucosidase every two weeks over a 3-year period. No infusion-associated reactions were observed. Pulmonary function remained stable (n = 4) or improved slightly (n = 1). Muscle strength increased. Only one patient approached the normal range. Patients obtained higher scores on the Quick Motor Function Test. None of the patients deteriorated. Follow-up data of two unmatched historical cohorts of adults and children with Pompe disease were used for comparison. They showed an average decline in pulmonary function of 1.6% and 5% per year. Data on muscle strength and function of untreated children were not available. Further studies are required.
Assuntos
Glucana 1,4-alfa-Glucosidase/uso terapêutico , Doença de Depósito de Glicogênio Tipo II/terapia , Músculo Esquelético/fisiopatologia , Adolescente , Criança , Pré-Escolar , Terapia de Reposição de Enzimas , Feminino , Doença de Depósito de Glicogênio Tipo II/fisiopatologia , Humanos , Masculino , Proteínas Recombinantes/uso terapêutico , Resultado do TratamentoRESUMO
We report a case of a girl who presented with typical absence seizures at age of 4.5 years. EEG showed absence seizures of sudden onset with 3 Hz spike-and-waves that also correlated with the clinical absences. The seizure semiology included subtle deviation of the eyes which prompted MRI investigation of the brain. This showed a periventricular nodular heterotopia in the mid to anterior horn of the right lateral ventricle. Although possibly coincidental, periventricular heterotopia are considered to be epileptogenic and this association has been reported once before. Migration disorders, such as in the periventricular heterotopia of our patient, may influence the formation and excitability of the striato-thalamo-cortical network involved in the generation of 3 Hz spike-waves.
Assuntos
Epilepsia Tipo Ausência/etiologia , Epilepsia Tipo Ausência/patologia , Heterotopia Nodular Periventricular/complicações , Heterotopia Nodular Periventricular/patologia , Anticonvulsivantes/uso terapêutico , Pré-Escolar , Quimioterapia Combinada , Eletroencefalografia , Epilepsia Tipo Ausência/tratamento farmacológico , Feminino , Humanos , Lamotrigina , Imageamento por Ressonância Magnética , Triazinas/administração & dosagem , Ácido Valproico/administração & dosagemRESUMO
Knowledge on the quality of life of children with headache is lacking. Until now only a few studies in this field have provided information on a limited number of life domains. The aim of this study was to assess the quality of life in a comprehensive number of life domains in children with primary headache presenting at an out-patient paediatric department in a general hospital. From October 2003 to October 2005 all children referred to the out-patient paediatric department of the Vlietland Hospital because of primary headache were investigated by protocol. A thorough history was taken and a general physical and neurological examination was performed. The International Headache Society criteria were used for classification. Quality of life (QoL) was measured using the Dutch version of the Child Health Questionnaire (CHQ-PF50 Dutch edition) and compared with data from a previously investigated cohort of healthy children from the same region, and with data from a cohort of children from the USA with asthma or with attention deficit hyperactivity disorder (ADHD), investigated with the CHQ-PF50. A total of 70 primary headache patients were included in the study (25 with tension-type headache, 36 with migraine, seven with chronic tension-type headache, two with both tension-type headache and migraine). Their mean age was 10.6 years (range 4-17 years); 37 children were male. On all but one subscale (self-esteem) the QoL of the children with primary headache was decreased compared with the cohort of healthy children, especially on the domains of mental health, parental impact time and family cohesion. Compared with the cohort of children with asthma the QoL was significantly worse for our headache group on seven subscales and significantly better on one subscale (general health perception). Compared with the cohort of children with ADHD, the QoL was significantly worse on six subscales but significantly better on three subscales. There were no significant differences on any QoL subscale between children with tension-type headache and children with migraine. We conclude that the QoL in children with primary headache presenting at the out-patient paediatric department of a general hospital seems to be considerably diminished. Furthermore, we conclude that, in this population there is no difference in QoL between children with tension-type headache and those with migraine.
Assuntos
Cefaleia/psicologia , Qualidade de Vida , Adolescente , Criança , Pré-Escolar , Feminino , Hospitais Gerais , Humanos , Masculino , Inquéritos e QuestionáriosRESUMO
BACKGROUND: Histiocytosis, both Langerhans and non-Langerhans cell type, can be associated with cerebellar white matter abnormalities, thought to be paraneoplastic. The associated clinical picture consists of ataxia, spasticity, and cognitive decline. Hormonal dysfunction is frequent. MRI shows cerebellar white matter abnormalities, as well as brainstem and basal ganglia abnormalities. This so-called "neurodegenerative syndrome" may occur years before or during manifest histiocytosis and also years after cure. We discovered similar MRI abnormalities in 13 patients and wondered whether they could have the same syndrome. METHODS: We reviewed the clinical and laboratory information of these 13 patients and evaluated their brain MRIs. Seven patients underwent spinal cord MRI. RESULTS: All patients were isolated cases; 10 were male. They had signs of cerebellar and pyramidal dysfunction, behavioral problems, and cognitive decline. MRI showed abnormalities of the cerebellar white matter, brainstem, basal ganglia, and, to a lesser extent, cerebral white matter. Three patients had spinal cord lesions. Three patients had laboratory evidence of hormonal dysfunction. No evidence was found of an underlying metabolic defect. In two patients biopsy of nodular brain lesions revealed histiocytic infiltrates. CONCLUSIONS: Considering the striking clinical and MRI similarities between our patients and the patients with this neurodegenerative syndrome in the context of proven histiocytosis, it is likely that they share the same paraneoplastic syndrome, although we cannot exclude a genetic disorder with certainty. The fact that we found histiocytic lesions in two patients substantiates our conclusion. Patients with cerebellar white matter abnormalities should be monitored for histiocytosis.
Assuntos
Doenças Cerebelares/diagnóstico , Histiocitose/diagnóstico , Síndrome da Leucoencefalopatia Posterior/diagnóstico , Adulto , Ataxia Cerebelar/complicações , Ataxia Cerebelar/diagnóstico , Ataxia Cerebelar/patologia , Doenças Cerebelares/complicações , Doenças Cerebelares/patologia , Criança , Feminino , Histiocitose/complicações , Histiocitose/patologia , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Síndrome da Leucoencefalopatia Posterior/complicações , Síndrome da Leucoencefalopatia Posterior/patologia , Estudos RetrospectivosRESUMO
Pompe disease (type 2 glycogenosis, acid maltase deficiency) is a disorder affecting skeletal and cardiac muscle, caused by deficiency of acid alpha-glucosidase. In 2006 enzyme therapy with recombinant human alpha-glucosidase received marketing approval based on studies in infants. Results in older children and adults are awaited. Earlier we reported on the 3-year follow-up data of enzyme therapy in two adolescents and one adult. In the present study these patients were followed for another 5 years. Two severely affected patients, wheelchair and ventilator dependent, who had shown stabilization of pulmonary and muscle function in the first 3 years, maintained this stabilization over the 5-year extension period. In addition patients became more independent in daily life activities and quality of life improved. The third moderately affected patient had shown a remarkable improvement in muscle strength and regained the ability to walk over the first period. He showed further improvement of strength and reached normal values for age during the extension phase. The results indicate that both long-term follow-up and timing of treatment are important topics for future studies.
Assuntos
Doença de Depósito de Glicogênio Tipo II/tratamento farmacológico , alfa-Glucosidases/uso terapêutico , Adolescente , Adulto , Animais , Células CHO/efeitos dos fármacos , Criança , Cricetinae , Cricetulus , Feminino , Doença de Depósito de Glicogênio Tipo II/patologia , Humanos , Estudos Longitudinais , Masculino , Músculo Esquelético/efeitos dos fármacos , Músculo Esquelético/patologia , Resultado do TratamentoRESUMO
Selenium is an essential part of the enzyme glutathione-peroxidase (GSH-Px) and plays an important role in the intracellular aspecific immune defence. Reference values for blood levels of GSH-Px are not available for dairy goats. The EU has authorized the addition of selenium (as E), in the form of sodium selenite or sodium selenate, to animal feeds, to a maximum of 0.5 mg selenium/kg complete feed. Dairy goats given feed containing the maximum level of selenium (0.5 mg/kg) had GSH-Px levels of more than 1000 U/g Hb. The reference values for GSH-Px in cattle, horses, and pigs are between 120 and 600 U/g Hb. Newborn kids had GSH-Px levels between 350 and 400 U/g Hb, comparable with those ofnewborn calves. In conclusion, the addition of selenium to feeds for dairy goats in amounts authorized by the EU leads to blood GSH-Px levels that are substantially higher than those in other species, such as horses, cattle, and pigs. Thus the maximum level of supplemental selenium in feeds for dairy goats should be less than 0.5 mg/kg.
Assuntos
Glutationa Peroxidase/metabolismo , Cabras/fisiologia , Necessidades Nutricionais , Selênio/administração & dosagem , Selênio/sangue , Fenômenos Fisiológicos da Nutrição Animal , Animais , Feminino , Glutationa Peroxidase/sangue , Cabras/sangue , Lactação/sangue , Lactação/fisiologia , Padrões de Referência , Valores de Referência , Oligoelementos/administração & dosagem , Oligoelementos/sangueRESUMO
BACKGROUND: Porencephaly (cystic cavities of the brain) is caused by perinatal vascular accidents from various causes. Several familial cases have been described and autosomal dominant inheritance linked to chromosome 13q has been suggested. COL4A1 is an essential component in basal membrane stability. Mouse mutants bearing an in-frame deletion of exon 40 of Col4a1 either die from haemorrhage in the perinatal period or have porencephaly in survivors. A report of inherited mutations in COL4A1 in two families has shown that familial porencephaly may have the same cause in humans. OBJECTIVE: To describe three novel COL4A1 mutations. RESULTS: The three mutations occurred in three unrelated Dutch families. There were two missense mutations of glycine residues predicted to result in abnormal collagen IV assembly, and one mutation predicted to abolish the traditional COL4A1 start codon. The last mutation was also present in an asymptomatic obligate carrier with white matter abnormalities on brain magnetic resonance imaging. CONCLUSIONS: This observation confirms COL4A1 as a major locus for genetic predisposition to perinatal cerebral haemorrhage and porencephaly and suggests variable expression of COL4A1 mutations.
Assuntos
Encefalopatias/genética , Colágeno Tipo IV/genética , Adulto , Encefalopatias/diagnóstico , Encefalopatias/patologia , Criança , Pré-Escolar , Colágeno Tipo IV/química , Colágeno Tipo IV/fisiologia , Análise Mutacional de DNA , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Linhagem , Estrutura Terciária de ProteínaRESUMO
Is 'hopeless and unbearable suffering' a just criterion for the deliberate termination of life of newborns with spina bifida? Hopeless suffering, with no means of alleviation, is not applicable in the acute phase of spina bifida in newborns, but to the chronic suffering that comes later on as the result of pain and discomfort experienced by the patient. There is a need for a nationwide discussion on (a) how can we determine when acute or chronic suffering become hopeless and unbearable, and on what basis should a given situation be regarded as an 'emergency situation'?; (b) what qualifies as a very severe form of spina bifida?; (c) what kind of care should be provided after the decision to withhold active care?
Assuntos
Tomada de Decisões , Eutanásia Ativa/ética , Qualidade de Vida , Disrafismo Espinal/complicações , Suspensão de Tratamento/ética , Ética Médica , Humanos , Recém-Nascido , Países BaixosRESUMO
Incontinentia pigmenti (IP; MIM308310) is a rare neurocutaneous X-dominant inherited disorder. Besides skin and neurological abnormalities, there is also ophthalmologic and dental involvement. The first stage is characterised by inflammation and apoptosis of the skin and central nervous system. The first stage consists of vesicles and the second of verrucous elements; the third stage is characterised by hyperpigmentation while the fourth is characterised by slightly atrophic hypopigmentations. The skin abnormalities follow the lines of Blaschko. The disorder is observed almost exclusively in girls, but diseased boys are more seriously affected. The IP gene is localised on chromosome Xq28. Mutations in the NEMO-gene are responsible for IP. This gene codes for the nuclear factor-KB essential modulator protein (NEMO; synonym: inhibitor kappaB kinase (IKK)y). In the absence of serious neurological symptoms, the prognosis is not poor.
Assuntos
Rearranjo Gênico , Incontinência Pigmentar/genética , Mutação , Proteínas Serina-Treonina Quinases/antagonistas & inibidores , Proteínas Serina-Treonina Quinases/genética , Feminino , Humanos , Quinase I-kappa B , Incontinência Pigmentar/patologia , Masculino , Prognóstico , Proteínas Serina-Treonina Quinases/metabolismo , Pele/patologia , Quinase Induzida por NF-kappaBRESUMO
Four-year follow-up of children with epilepsy included in a randomized trial of early withdrawal of antiepileptic drugs showed that 51% achieved a terminal remission of at least 2 years without medication and 21% with medication; 15% had seizures during the fourth year. Early medication withdrawal is not recommended as standard practice in children with a rapid response to medication. The authors developed a model to predict outcome if withdrawal is considered.
Assuntos
Anticonvulsivantes/efeitos adversos , Epilepsia/induzido quimicamente , Epilepsia/tratamento farmacológico , Síndrome de Abstinência a Substâncias , Suspensão de Tratamento/estatística & dados numéricos , Adolescente , Anticonvulsivantes/administração & dosagem , Encéfalo/efeitos dos fármacos , Encéfalo/fisiopatologia , Criança , Pré-Escolar , Esquema de Medicação , Eletroencefalografia , Epilepsia/prevenção & controle , Feminino , Seguimentos , Humanos , Lactente , Masculino , Modelos Neurológicos , Valor Preditivo dos Testes , Prognóstico , Indução de Remissão , Prevenção Secundária , Síndrome de Abstinência a Substâncias/diagnóstico , Tempo , Fatores de Tempo , Suspensão de Tratamento/tendênciasRESUMO
A male infant who, since birth, had begun to cry as soon as he began to nurse was found to have the crocodile tears syndrome. It is thought that in this condition the lacrimal glands are partially innervated by efferent fibres of the facial nerve (VII). The syndrome may be congenital, but may also be a consequence of an infection or trauma. Treatment is surgical or by the use of botulinum-A toxin.
Assuntos
Toxinas Botulínicas Tipo A/uso terapêutico , Doenças do Aparelho Lacrimal/diagnóstico , Ingestão de Líquidos , Humanos , Recém-Nascido , Aparelho Lacrimal/inervação , Aparelho Lacrimal/metabolismo , Doenças do Aparelho Lacrimal/congênito , Doenças do Aparelho Lacrimal/tratamento farmacológico , Doenças do Aparelho Lacrimal/cirurgia , Masculino , Síndrome , Lágrimas/metabolismo , Resultado do TratamentoRESUMO
We report the findings in five muscle and three sural nerve biopsies, and in one postmortem plexus specimen, from six patients with hereditary neuralgic amyotrophy (HNA). We found that the sensory nerves are definitely involved in HNA despite the mainly motor symptoms, and that lesions in nerves and muscles are more widespread throughout the peripheral nervous system than clinically presumed, but, simultaneously, very focally affect isolated fascicles within individual nerves.
Assuntos
Neuropatias do Plexo Braquial/patologia , Transtornos Heredodegenerativos do Sistema Nervoso/patologia , Músculo Esquelético/patologia , Nervo Sural/patologia , Adulto , Idoso , Biópsia , Criança , DNA/análise , Eletromiografia , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
Familial porencephaly is a rare disorder causing motor impairment, hemiplegia, mental retardation and epilepsy in variable degrees. Two families with porencephaly and apparently dominant inheritance are reported. Brain MRI findings are reviewed and described in seven affected individuals. Most patients also show white matter abnormalities in the cerebral hemisphere, also contralateral to the cystic lesion. In the first family an obligate carrier was identified who did not have a cystic lesion but clear abnormalities of the white matter. Although a predisposition for thrombophilia has previously been reported, we did not observe any genetic, environmental or epigenetic predisposition for the porencephaly. The lesions are most compatible with a deep venous thrombosis/ischemic event occurring in a late stage of pregnancy, not necessarily aggravated by perinatal asphyxia.
Assuntos
Encéfalo/anormalidades , Cistos do Sistema Nervoso Central/genética , Imageamento por Ressonância Magnética , Adolescente , Adulto , Encéfalo/patologia , Cistos do Sistema Nervoso Central/diagnóstico , Ventrículos Cerebrais/anormalidades , Ventrículos Cerebrais/patologia , Criança , Pré-Escolar , Dominância Cerebral/genética , Feminino , Seguimentos , Genes Dominantes/genética , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Países Baixos , Exame Neurológico , Linhagem , Gravidez , Trombofilia/diagnóstico , Trombofilia/genética , Tomografia Computadorizada por Raios XRESUMO
OBJECTIVE: To assess the interrater agreement of the diagnosis and the classification of a first paroxysmal event in childhood. METHODS: The descriptions of 100 first paroxysmal events were submitted to two panels each consisting of three experienced paediatric neurologists. Each observer independently made a diagnosis based on clinical judgment and thereafter a diagnosis based on predefined descriptive criteria. Then, the observers discussed all patients within their panel. The agreement between the six individual observers was assessed before discussion within each panel and after that, between the two panels. RESULTS: Using their clinical judgement, the individual observers reached only fair to moderate agreement on the diagnosis of a first seizure (mean (SE) kappa 0.41 (0.03)). With use of defined descriptive criteria the mean (SE) kappa was 0.45 (0.03). The kappa for agreement between both panels after intra-panel discussion increased to 0.60 (0.06). The mean (SE) kappa for the seizure classification by individual observers was 0.46 (0.02) for clinical judgment and 0.57 (0.03) with use of criteria. After discussion within each panel the kappa between the panels was 0.69 (0.06). In 24 out of 51 children considered to have had a seizure, agreement was reached between the panels on a syndrome diagnosis. However, the epileptic syndromes were in most cases only broadly defined. CONCLUSIONS: The interrater agreement on the diagnosis of a first seizure in childhood is just moderate. This phenomenon hampers the interpretation of studies on first seizures in which the diagnosis is only made by one observer. The use of a panel increased the interrater agreement considerably. This approach is recommended at least for research purposes. Classification into clinically relevant syndromes is possible only in a very small minority of children with a single seizure.
Assuntos
Epilepsia , Criança , Pré-Escolar , Epilepsia/classificação , Epilepsia/diagnóstico , Epilepsia/epidemiologia , Feminino , Humanos , Masculino , Variações Dependentes do Observador , Índice de Gravidade de DoençaRESUMO
OBJECTIVE: To assess the accuracy of the diagnosis of epileptic seizures in children. METHODS: The Dutch Study of Epilepsy in Childhood is a prospective hospital-based study of 881 children referred because of possible seizures. The diagnosis was based on predefined descriptive criteria, as applied by a panel of three pediatric neurologists. Children with a definite other diagnosis were excluded. All children with unclear events were followed up for 1 year and children with seizures were followed up for 2 years to assess the accuracy of the diagnosis. RESULTS: In 170 of 224 children seen after a single event, the incident was classified initially as epileptic, in 54 as unclear. In none of the 170 children did the diagnosis prove to be wrong. In four of the 54 children, recurrent episodes enabled a definite diagnosis of epilepsy. In 412 of the 536 children seen with multiple events, an initial diagnosis of epilepsy was made. After follow-up, this initial diagnosis was probably incorrect in 19. In contrast, seven of 124 children with multiple unclear episodes at intake later received the diagnosis epilepsy. CONCLUSIONS: A false-positive diagnosis of epilepsy was made in 4.6%, whereas a definite diagnosis of epilepsy or seizure was delayed in 5.6% of children with multiple unclear events and in 7.4% of children with one unclear event.