RESUMO
Anti-NMDA-receptor encephalitis is an autoimmune disorder with a well-defined set of clinical features including psychiatric changes (anxiety, agitation, bizarre behaviour, delusional or paranoid thoughts), epileptic seizures and cognitive disturbance followed by movement disorders including orofacial dyskinesias, alterations in the level of consciousness and dysautonomia. Although the cognitive changes are not always very clear at presentation, they can persist after recovery from the acute and often prolonged illness. However, there are few studies describing neuropsychiatric changes in depth, both in the early course of the disease and in long-term follow-up.
RESUMO
A clinical case of encephalitis caused by antibodies to NMDA-receptors is presented. This rare pathology is characterized by severe cognitive impairment and needs careful differential diagnosis.
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AIM: To determine whether factor V Leiden (FVL) and prothrombin (PT) 20210G>A mutation are associated with paediatric ischaemic stroke. METHODS: The study consisted of two parts. Case-control study included neuroradiologically confirmed paediatric ischaemic stroke patients from two tertiary children's hospitals in Estonia. For control group, DNA was obtained from 400 anonymous screening test cards of newborns born consecutively in all delivery departments of Estonia in January 2005. Meta-analyses was performed to assess the association between paediatric sinovenous thrombosis and FVL and PT 20210G>A. RESULTS: A total of 75 children (45 boys, 30 girls) were included into the case-control study: 19 with childhood arterial ischaemic stroke, 49 with perinatal arterial ischaemic stroke and seven with cerebral venous thrombosis. Both FVL and PT 20210G>A occurred significantly more frequently among patients with sinovenous thrombosis compared with controls (OR = 12.9; 95% CI: 2.3-73.0 and OR = 11.9; 95% CI: 2.1-67.2, respectively). The difference was not significant between childhood/perinatal arterial ischaemic stroke and controls. Meta-analyses (including our study) revealed that both FVL and PT 20210G>A are associated with paediatric sinovenous thrombosis (OR = 3.1; 95% CI: 1.8-5.5 and OR = 3.1; 95% CI: 1.4-6.8, respectively). CONCLUSION: FVL and PT 20210G>A are associated with paediatric sinovenous thrombosis.
Assuntos
Fator V/genética , Predisposição Genética para Doença , Mutação , Protrombina/genética , Trombose dos Seios Intracranianos/genética , Acidente Vascular Cerebral/genética , Adolescente , Isquemia Encefálica/genética , Estudos de Casos e Controles , Criança , Feminino , Heterozigoto , Humanos , Recém-Nascido , Masculino , Razão de ChancesRESUMO
BACKGROUND: Bladder problems are very common in persons with multiple sclerosis (PwMS). OBJECTIVE: The aim of this study was to investigate the ability of PwMS to learn clean intermittent self-catheterization (CISC). METHODS: The physical disability of 23 PwMS was evaluated with the Expanded Disability Status Scale (EDSS), and cognitive status was evaluated with the Brief Repeatable Battery of Neuropsychological Tests (BRB-N). CISC was taught by the same continence advisor who was blinded to the cognitive test results. The ability to learn CISC was evaluated immediately after sessions and 3 months later. Twenty-three consecutive PwMS participated in the study. RESULTS: In all, 87% (20/23) of the PwMS successfully finished CISC training. The number of lessons needed to acquire CISC skills differed significantly depending on the EDSS (Spearman r=0.682, P=0.0003), but the total cognitive decline subscore did not influence the ability to learn CISC. Only 13% (3/23) of the PwMS failed to learn CISC. The ability to learn CISC depended on the number of lessons needed to acquire CISC (r=-0.499, P=0.0313) and the EDSS score (r=-0.433, P=0.0390) but not on the course of the disease (r=0.125, P=0.5696) or on cognitive decline (r=-0.311, P=0.1480). After 3 months of follow-up, 30% (6/20) of the PwMS had ceased performing CISC. A follow-up indicated no statistically significant correlations among any of the subscores of the cognitive test battery, the EDSS score, the course of the disease, and the time required to learn CISC and effective bladder management. CONCLUSIONS: Our study thus confirmed that most (87%) PwMS were able to learn CISC in spite of cognitive dysfunction and therefore to improve their quality of life.
Assuntos
Transtornos Cognitivos/reabilitação , Esclerose Múltipla Crônica Progressiva/reabilitação , Esclerose Múltipla Recidivante-Remitente/reabilitação , Cateterismo Urinário , Retenção Urinária/reabilitação , Retenção Urinária/terapia , Adulto , Transtornos Cognitivos/etiologia , Avaliação da Deficiência , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla Crônica Progressiva/complicações , Esclerose Múltipla Recidivante-Remitente/complicações , Educação de Pacientes como Assunto , Qualidade de Vida , Autocuidado , Retenção Urinária/etiologiaRESUMO
Serum soluble transferrin receptors (sTfR) concentration is a useful test in the diagnosis of childhood iron deficiency (ID). The aims of this study were to establish reference limits and to evaluate the diagnostic characteristics of sTfR in the diagnosis of ID in infants aged 9-12 months. In addition to mean erythrocyte cell volume, haemoglobin and ferritin measurements, sTfR concentration was measured in 179 healthy children in Estonia using the IDeA and Tina-quant methods. Using the ID criteria of ferritin <10 microg/l, subjects were divided into healthy (n = 146) and ID (n = 33) groups. The reference limits (5th and 95th percentile) were calculated in the study group. We used receiver operating characteristic curves to find out the cut-off values for the best diagnostic characteristics. The reference limits for sTfR were 1.5-2.7 mg/l in the IDeA method and 4.1-7.8 mg/l in the Tina-quant) method. The methods had poor agreement, the mean ratio with 95% limits of agreement was 2.9 (2.4-3.6). The best cut-off value in order to identify ID by hypoferritinaemia in this population is an sTfR level > 2.4 mg/l in the IDeA (sensitivity 84%, specificity 94%) and an sTfR level > 7.4 mg/l in the Tina-quant (sensitivity 80%, specificity 92%). We conclude that sTfR concentration is an efficient tool in the diagnosis of ID, but that every method needs its own cut-off value.
Assuntos
Anemia Ferropriva/diagnóstico , Receptores da Transferrina/sangue , Anemia Ferropriva/sangue , Biomarcadores/sangue , Humanos , Lactente , Kit de Reagentes para Diagnóstico , Valores de Referência , Sensibilidade e EspecificidadeRESUMO
OBJECTIVES: To study the point prevalence of juvenile idiopathic arthritis (JIA) in children in Estonia on December 31, 2000. To examine the short-term clinical outcome of the disease. METHOD: Identification of patients diagnosed with JIA between 1995-2000. Prospective follow-up of new cases diagnosed between 1998-2000 for two years. Retrospective analysis of the medical records of patients diagnosed between 1995-1997. The study was population-based. RESULT: One hundred and ninety-seven (197) patients fulfilled the study criteria. On December 31, 2000, the point prevalence of JIA was 83.7 (95% CI: 72.4; 95.8) per 100 000 children aged 0-15 years, 90.7 (95% CI: 74.1; 108.9) for girls and 77.1 (95% CI: 62.2; 93.5) for boys. Prevalence was the highest among 11-15 year-old girls (132; 95% CI: 100.7; 167.4) and the lowest in 0-3 year-old girls (9.6; 95% CI: 1.2; 26.7). For 44 patients (22.3%), the disease was inactive after 2 years since the onset of the disease. For 76 patients (38.6%). the disease was active or stable after 2 years. CONCLUSION: This is the first population-based study on the prevalence and outcome of JIA in Estonia in which the new ILAR criteria have been used. A longer follow-up of JIA patients is needed to have a better overview of the course of the disease. Good cooperation between family doctors and specialists is crucial for diagnosing JIA as early as possible.
Assuntos
Artrite Juvenil/epidemiologia , Adolescente , Artrite Juvenil/tratamento farmacológico , Criança , Pré-Escolar , Estônia/epidemiologia , Feminino , Humanos , Lactente , Masculino , Prevalência , Estudos Prospectivos , Estudos RetrospectivosRESUMO
OBJECTIVE: To evaluate how effectively one question 'Are you depressed?' works as a screening tool for depression in people with multiple sclerosis. DESIGN: The results from a single question were compared with formal clinical diagnosis and the classification from a standard questionnaire. SETTING: Estonian Multiple Sclerosis Centre, from October 2001 to April 2002. SUBJECTS: One hundred and thirty-four consecutive inpatients with multiple sclerosis. INTERVENTION: During two weeks of inpatient stay the mood disorder was analysed. On the basis of clinical interview and Beck Depression Inventory the diagnosis of depression was confirmed. MAIN MEASURES: Beck Depression Inventory and structured clinical interview. RESULTS: Fifty-seven per cent (77/134) of people with multiple sclerosis answered 'Yes' to the question 'Are you depressed?'. The diagnosis of depression was confirmed in 94% (72/77) of people with multiple sclerosis and not confirmed in 6% (5/77). Hence, the screening test sensitivity was 91%. Forty-three per cent (57/134) answered 'No'; 70% (40/57) did not have depression. In this case the sensitivity was 54%. In this group 30% (17/57) were actually depressed according to tests and clinical impression. The age, sex, duration of disease, cognitive abilities and physical disability did not influence consistency of the answers with test results and clinical opinion. CONCLUSIONS: One-question interview is a useful tool for screening for depression in people with multiple sclerosis as it confirms existing depression (sensitivity 91%), but the results should be treated with caution if the person denies mood problems.
Assuntos
Transtorno Depressivo/diagnóstico , Esclerose Múltipla/psicologia , Adulto , Transtorno Depressivo/classificação , Estônia , Feminino , Humanos , Pacientes Internados , Classificação Internacional de Doenças , Entrevistas como Assunto , Masculino , Reprodutibilidade dos TestesRESUMO
OBJECTIVE: To study the incidence rate of juvenile idiopathic arthritis (JIA) and its clinical subtypes in Estonia, to follow the course of the disease in newly diagnosed patients for 2 years, and to find the frequency of human leucocyte antigens (HLA) B27, DR1 and DR4 in JIA patients. METHOD: A population-based study involving prospective registration of new cases of JIA in 1998-2000 and their clinical follow-up for 2 years. RESULTS: In 1998-2000, 162 new cases of JIA were diagnosed. The mean annual incidence rate of JIA was 21.7 per 100 000 children aged 0-15 years (22.9 in girls and 19.3 in boys). During the investigation period, the incidence rate rose 3.5-fold. Oligoarthritis was the most frequent subtype (mean annual incidence rate of 11.7 per 100 000), followed by seronegative polyarthritis (4.4 per 100 000). HLA-DR1, B27 and DR4 were found respectively in 44.4, 28.6 and 11.1% of cases in which the analysis was performed. In HLA-B27-positive patients, inflammation markers of blood remained at a high level for a longer period compared with HLA-B27-negative patients. CONCLUSIONS: This is the first population-based study on the epidemiology of juvenile arthritis in Estonia in which the new classification criteria defined by the International League of Associations for Rheumatology (ILAR) have been used. In addition to environmental factors, an increase in awareness among family doctors is a probable reason for the rise in incidence during the study period. HLA-B27 might have predictive value as a marker of chronicity of inflammation.
Assuntos
Artrite Juvenil/epidemiologia , Adolescente , Artrite Juvenil/diagnóstico , Artrite Juvenil/imunologia , Criança , Pré-Escolar , Estônia/epidemiologia , Feminino , Antígeno HLA-B27/sangue , Antígeno HLA-DR1/sangue , Antígeno HLA-DR4/sangue , Humanos , Incidência , Lactente , Masculino , Prognóstico , Estudos ProspectivosRESUMO
AIM: To evaluate the role of early (up to 12 h) changes in cerebral blood-flow (CBF) velocity in predicting the severity of hypoxic-ischaemic encephalopathy (HIE) and long-term outcome in asphyxiated term infants. METHODS: CBF velocities were investigated by colour Doppler ultrasonography in 81 healthy and 60 asphyxiated term infants at least three times during the first 5 d of life. The psychomotor development of infants was followed up to 18 mo. RESULTS: No differences in CBF velocities were found at the age of 2-6 h between infants with severe and mild-moderate HIE, mean CBF velocity [mean (95% CI of mean CBF velocity)] in anterior cerebral artery [14.9 (1.4-28.4)cm/s] and [13.9 (11.1-16.7) cm/s], respectively, and between infants with poor outcome (death or severe disability) and with normal development/mild impairments. By the age of 12 h infants with mild-moderate HIE and infants with normal development/mild impairments had decreased CBF velocity in the anterior cerebral artery, and infants with severe HIE or poor outcome had increased mean CBF velocity in anterior, medial cerebral and basilar artery compared to the control group. CONCLUSION: The value of CBF velocity changes to predict poor outcome in asphyxiated infants is low 2-6 h after asphyxia, but increases by the age of 12 ho.
Assuntos
Asfixia Neonatal/fisiopatologia , Artérias Cerebrais/fisiopatologia , Circulação Cerebrovascular , Índice de Apgar , Asfixia Neonatal/diagnóstico por imagem , Velocidade do Fluxo Sanguíneo , Estudos de Casos e Controles , Artérias Cerebrais/diagnóstico por imagem , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Masculino , Avaliação de Resultados em Cuidados de Saúde , Valor Preditivo dos Testes , Prognóstico , Estudos Prospectivos , Valores de Referência , Sensibilidade e Especificidade , Ultrassonografia Doppler em CoresRESUMO
We report on the sudden death of a 3.5-year-old girl with Prader-Willi syndrome (PWS) and 15q11-q13 deletion. She suffered from severe chronic breathing disturbances and recurrent bronchitis. During an episode of acute bronchitis she had a cardiac arrest and died two months later of the sequelae. Brain CT imaging three weeks after the arrest showed bilateral symmetrical haemorrhages in the basal ganglia region. The spatial distribution of the haemorrhages can possibly suggest that the basal ganglia in PWS may be especially susceptible to hypoxemia.
Assuntos
Morte Súbita , Síndrome de Prader-Willi/fisiopatologia , Pré-Escolar , Deleção Cromossômica , Cromossomos Humanos Par 15 , Feminino , Humanos , Síndrome de Prader-Willi/genética , Tomografia Computadorizada por Raios XRESUMO
We reported four cases of Hallervorden-Spatz disease. All four siblings (three males and one female) in the family are affected. The first symptoms of the disease were spastic paraparesis and optic atrophy followed by trunkal dystonia and lower motor neurone involvement. The average age of the onset was 4.25 years. The diagnosis was made at the ages of 17, 14, 11 and 10 years. The diagnosis was confirmed clinically, electrophysiologically and by MRI. On MRI scans all patients demonstrated hypointense areas in globus pallidus. There is neither specific treatment nor prenatal diagnosis.
Assuntos
Espasticidade Muscular/diagnóstico , Atrofias Ópticas Hereditárias/diagnóstico , Neurodegeneração Associada a Pantotenato-Quinase/diagnóstico , Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Espasticidade Muscular/etiologia , Espasticidade Muscular/genética , Núcleo Familiar , Atrofias Ópticas Hereditárias/etiologia , Atrofias Ópticas Hereditárias/genética , Neurodegeneração Associada a Pantotenato-Quinase/complicações , Neurodegeneração Associada a Pantotenato-Quinase/genéticaRESUMO
The aim of this study was to specify the neuropsychological deficits characteristic of children with unilateral non-progressive brain lesion. In order to assess these specific functions, we used a comprehensive model of congenital hemiparesis with partial epilepsy and newly diagnosed partial epilepsy without hemiparesis. The neuropsychological examination was performed using the NEPSY test battery on 44 children aged from 4 to 9 years. The children were divided into three groups: 18 children suffering from congenital hemiparesis with chronic partial epilepsy, 12 children with newly diagnosed partial epilepsy prior to anti-epileptic treatment, and 14 healthy controls matched by sex, age, and socioeconomic status. Children with congenital hemiparesis and epilepsy had a more clearly expressed cognitive dysfunction, especially in language, visuo-perceptual and memory tasks, than children with newly diagnosed partial epilepsy. The profile of cognitive weakness appears to be diffuse and quite similar in both groups, and it did not demonstrate a clear effect of lateralization, according to the side of epileptic electroencephalogram discharges. Children within both groups are likely to have a high risk of developing attention, phonological, visuo-perceptual, and memory deficits in their life. Especially interesting and surprising was the fact that the newly diagnosed epilepsy group demonstrated impairment not only in attention, visuo-perceptual and short-term memory skills, but also in auditory perception, lexical function, and the comprehension of speech. Therefore, it is recommended that children with epilepsy would undergo neuropsychological examination in order to assess their cognitive abilities.
Assuntos
Encéfalo/anormalidades , Encéfalo/crescimento & desenvolvimento , Transtornos Cognitivos/etiologia , Epilepsia/fisiopatologia , Malformações do Sistema Nervoso/fisiopatologia , Transtorno do Deficit de Atenção com Hiperatividade/patologia , Transtorno do Deficit de Atenção com Hiperatividade/fisiopatologia , Encéfalo/patologia , Criança , Pré-Escolar , Transtornos Cognitivos/patologia , Transtornos Cognitivos/fisiopatologia , Epilepsia/patologia , Epilepsia/psicologia , Feminino , Lateralidade Funcional/fisiologia , Humanos , Transtornos do Desenvolvimento da Linguagem/patologia , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Masculino , Transtornos da Memória/patologia , Transtornos da Memória/fisiopatologia , Malformações do Sistema Nervoso/patologia , Malformações do Sistema Nervoso/psicologia , Testes Neuropsicológicos , Paresia/congênito , Paresia/fisiopatologia , Transtornos Psicomotores/patologia , Transtornos Psicomotores/fisiopatologiaRESUMO
The aim of this study was to examine the cognitive outcome of children with congenital and acquired early-onset unilateral brain lesions associated with hemiparesis. The neuropsychologic evaluation was done using the NEPSY test battery on 37 children with hemiparesis and 13 sex- and age-matched healthy controls. Compared to the controls, children with left-sided brain lesions had significant delay in phonologic and language functions, while children with right-sided brain lesions performed more poorly in visual and spatial skills and in somatosensory functions. There were more left-handed children in the former (6 of 23) than in the latter (1 of 14) group. There was no significant difference in cognitive outcome between children with congenital and acquired lesions. The cognitive outcome of boys and that of children with active epilepsy was more affected. Overall, the patients showed impairment in many cortical functions and diffuse cognitive delay compared to controls and the side of lesion, active epilepsy, and male gender were significant factors in predicting cognitive outcome.
Assuntos
Encefalopatias/congênito , Encefalopatias/complicações , Transtornos Cognitivos/diagnóstico , Paresia/etiologia , Fatores Etários , Atenção/fisiologia , Encefalopatias/diagnóstico , Criança , Pré-Escolar , Feminino , Lateralidade Funcional/fisiologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Testes Neuropsicológicos , Índice de Gravidade de Doença , Fatores Sexuais , Tomografia Computadorizada por Raios XRESUMO
We describe a 2(1/2)-year-old boy with a ring chromosome 13 with distal deletion of 13q32-->qter and celiac disease.
Assuntos
Anormalidades Múltiplas/genética , Doença Celíaca/genética , Deleção Cromossômica , Cromossomos Humanos Par 13 , Cromossomos em Anel , Adulto , Pré-Escolar , Feminino , Humanos , Cariotipagem , MasculinoRESUMO
UNLABELLED: Total magnesium, ionized calcium, potassium and sodium concentrations in mixed umbilical cord blood and venous blood serum at a median (min.-max.) age of 33 h (24-48 h) were assessed colorimetrically in 46 asphyxiated and 35 healthy term infants. Asphyxiated infants without any signs or with signs of mild hypoxic-ischaemic encephalopathy (HIE) had significantly higher, and infants with severe HIE lower umbilical cord blood serum total magnesium (mean (95%CI) 0.81 (0.75-0.87) mmol/l and 0.64 (0.47-0.87) mmol/l, respectively, p < 0.05) compared with the control group (0.72 (0.69-0.76)mmol/l). An increase in serum total magnesium in spite of normalized acid-base status in asphyxiated infants suffering from severe HIE compared with the control group infants was found by the second day of life (0.97 (0.87-1.07) mmol/l and 0.86 (0.81-0.9) mmol/l, respectively, p < 0.05). At the age of 24-48 h hypermagnesaemia (>2 SD) was discovered in 36%, hyponatremia (<2 SD) in 38%, and hypocalcaemia (<2 SD) in 23% of asphyxiated infants. Derangements (>2 SD) in at least two electrolytes by the second day of life were significantly associated with poor outcome. CONCLUSIONS: Magnesium, calcium and sodium derangements are a frequent finding in asphyxiated infants, and these abnormalities are significantly associated with poor outcome. For a better outcome prediction, the routine determination of magnesium in addition to other electrolytes in asphyxiated infants is recommended.
Assuntos
Cálcio/sangue , Hipóxia Encefálica/sangue , Magnésio/sangue , Estudos de Casos e Controles , Sangue Fetal/química , Humanos , Recém-Nascido/sangue , Prognóstico , Valores de Referência , Fatores de Risco , Sódio/sangue , Equilíbrio HidroeletrolíticoRESUMO
In the present study we have explored antigliadin (AGA) and antireticulin (ARA) antibody tests for the serological screening for coeliac disease (CD) of 206 children with neurological disorders. IgA- or/and IgG-type AGA was discovered in 17 (8.3%) patients and IgA-type ARA in one (0.5%) patient. A small intestinal biopsy was performed in all 18 antibody-positive patients, and villous atrophy compatible with CD was revealed in three cases (patients with either epilepsy, retardation of psychomotor development or Down's syndrome). The CD prevalence rate of 14.6 per 1000 (95% CI 7.0-22.2) found in the present study was higher than could have been anticipated on the basis of the results of our previous population studies, which indicate that CD occurs more frequently among children with neurological disorders (OR = 37.6; 95% CI 9.7-146.9). Whether this finding reflects certain immunopathogenic links between CD and particular neurological diseases needs to be studied further. In this study, we were unable, using indirect immunofluorescence testing, to demonstrate the presence of autoantibodies against brain tissue in CD and AGA-positive patients.
Assuntos
Doença Celíaca/epidemiologia , Doenças do Sistema Nervoso/complicações , Adolescente , Adulto , Doença Celíaca/diagnóstico , Doença Celíaca/etiologia , Criança , Pré-Escolar , Feminino , Gliadina/imunologia , Humanos , Imunoglobulina G/sangue , Lactente , Masculino , Programas de Rastreamento , Reticulina/imunologiaRESUMO
The concept of the epileptic syndrome has had a practical and research impact on the management of patients with epilepsy. The aim of the present study was to verify the applicability of the International Classification of Epilepsies and Epileptic Syndromes in children and adolescents in Estonia. A population-based study was performed between January 1995 and December 1997 in seven counties. Only cases involving children between the ages of 1 month and 19 years with at least two unprovoked seizures were included. In all, 560 children and adolescents were referred to the Children's Hospital of the University of Tartu. A syndrome diagnosis was made in 550 (98.2%) cases: (49.4%) were localization-related (6.4% idiopathic, 18.9% symptomatic, 24.1% cryptogenic). Benign childhood epilepsy with centrotemporal spikes was present in 33 (5.9%) and childhood epilepsy with occipital paroxysms in three (0.5%); 48.4% were generalized (28.8% idiopathic, 5.7% cryptogenic or symptomatic, 14% symptomatic). Childhood absence epilepsy was present in 6.4%, juvenile absence in 2.0%, juvenile myoclonic in 0.7% and epilepsy with generalized tonic-clonic seizures on awakening in 17.7%. West syndrome was diagnosed in 1.4%, Lennox-Gastaut syndrome in 2.9% of the cases. In 0.4% of the cases it was undetermined whether seizures were focal or generalized. In 8.8% of the cases there were atypical features so they were classified as 'other symptomatic generalized epileptic syndromes not defined above' and 1.8% of the cases were unclassified. Specific neurological diseases were diagnosed in 5.0% of cases. Thus, the International Classification of Epilepsies and Epileptic Syndromes was very applicable to children and adolescents in Estonia.
Assuntos
Associação , Epilepsia/classificação , Epilepsia/prevenção & controle , Cooperação Internacional , Adolescente , Criança , Pré-Escolar , Eletroencefalografia , Epilepsia/diagnóstico , Epilepsia/fisiopatologia , Estônia , Humanos , Lactente , Recém-Nascido , Imageamento por Ressonância Magnética , SíndromeRESUMO
The clinical and molecular features of 25 Duchenne (DMD), two intermediate (D/BMD) and three Becker (BMD) muscular dystrophy patients from 26 unrelated families were evaluated. Early psychomotor development was normal in patients with D/BMD and BMD. Learning to walk independently after 15 months of age was a risk sign of DMD in nine (36%) patients. Abnormality in crawling was seen in 13 (54%) patients with DMD. These boys demonstrated initial symptoms earlier than those who learned to crawl normally. Mental retardation was established in five (20%) patients with DMD. Deletions in the dystrophin gene were found in 11 families (48%). They were accumulated (9/11, 82%) in the distal region of the gene.
Assuntos
Distrofias Musculares/diagnóstico , Adolescente , Adulto , Criança , Pré-Escolar , Estudos de Coortes , Creatina Quinase/sangue , Distrofina/genética , Distrofina/metabolismo , Estônia , Deleção de Genes , Humanos , Deficiência Intelectual/diagnóstico , Masculino , Transtornos dos Movimentos/diagnóstico , Músculo Esquelético/metabolismo , Distrofias Musculares/genética , Distrofias Musculares/metabolismo , Estudos Prospectivos , Estudos Retrospectivos , Distúrbios da Fala/diagnósticoRESUMO
PURPOSE: To establish the prevalence rate (PR) and main characteristics of childhood epilepsy in Estonia. METHODS: We performed a population-based case ascertainment of all the possible sources of medical care in seven counties of Estonia from January 1995 to December 1997. Only cases of patients from 1 month to 19 years of age with active epilepsy (i.e., at least one seizure during the last 5 years, regardless of treatment) were included. All patients were examined by a pediatric neurologist. RESULTS: Five hundred sixty cases met the study criteria on the prevalence day, December 31, 1997. The total PR was 3.6 per 1,000 population (boy/girl ratio, 1.2:1.0). The PR was the highest-4.3 per 1,000-in the 5-to-9-year-old age group. The prevalence declined markedly in children age 14 years and on. The correlation between age and PR was negative (-0.542, p < 0.0001) by regression analyses. The most frequent seizure types in the total group were primarily generalized seizures-PR 2. 1/1,000 [rate ratio (RR) 1.4, 95% confidence interval (CI) 1.2, 1.6]. The predominance of generalized seizures was significant in those younger than 10 years. In 14.8% of cases, there was a history of epilepsy among first- and second-degree relatives. Benign rolandic epilepsy-PR 0.2/1,000-was the most frequent among idiopathic syndromes, and Lennox-Gastaut syndrome-PR 0.08/1,000-was the most frequent among cryptogenic ones. Perinatal factors-PR 0.8/1,000 were the most frequently found cause of epilepsy. In 304 cases (54.2%), additional medical problems existed. CONCLUSIONS: The prevalence of childhood epilepsy was comparable with that found in developed countries. Generalized seizures predominated, and the main cause was perinatal factors.