55 research outputs found
Discrepâncias no crescimento dos dimÃdios em crianças com paralisia cerebral hemiplégica: associação com a função, atividades e participação social
Objective: Evaluate side-to-side discrepancies in children with hemiplegic cerebral palsy (HCP), and investigate associations of these discrepancies with patients’ age at initiation of physical therapy, motor and cognitive function, and degree of activities and social participation. Method: We obtained eight side-to-side measurements from 24 HCP children with mean age 49.3±5.2 months. Results: Early initiation of physical therapy was associated with lower discrepancy in hand length (p=0.037). Lower foot length discrepancy was associated with lower requirement for caregiver assistance in activities related to mobility. Increased side-to-side discrepancy was associated with reduced wrist extension and increased spasticity. Discrepancy played a larger role in children with hemineglect and in those with right involvement. Conclusion: Increased discrepancy in HCP children was associated with reduced degree of activity/social participation. These results suggest an association between functional use of the extremities and limb growth.Objetivo: Avaliar a discrepância entre o crescimento dos lados do corpo em crianças com paralisia cerebral hemiplégica (PCH), e investigar sua associação com a idade de inÃcio do tratamento de fisioterapia, função motora e cognitiva, grau de atividades e participação social. Método: Comparamos oito medidas obtidas de 24 crianças com PCH e com média de idade de 49,3±5,2 meses. Resultados: O inÃcio precoce da fisioterapia se relacionou à menor discrepância no comprimento da mão (p=0,037). A menor discrepância no comprimento do pé se relacionou à menor necessidade de ajuda do cuidador em atividades de mobilidade. A maior discrepância esteve relacionada à menor extensão de punho e à maior espasticidade. A discrepância foi mais importante em crianças com heminegligência e com envolvimento à direita. Conclusão: Crianças com PCH com maior discrepância apresentaram menor atividade/participação social. Os resultados sugerem associação entre o uso funcional da mão e o crescimento das extremidades.CuritibaPRUniversidade Federal do Paraná Hospital de ClÃnicas Centro de NeuropediatriaSão PauloSPUniversidade Federal de São Paulo (UNIFESP)Universidade Federal do Paraná Departamento de PediatriaUniversidade Federal do Paraná Departamento de ClÃnica MédicaHospital Albert EinsteinUNIFESPSciEL
Rett syndrome: retrospective and prospective study of 28 patients
From November 1982 to May 1999, 28 children with Rett syndrome were followed-up for a medium period of 6 years and 2 months. Regression of developmental milestones started at the age between 5 and 20 months. Nineteen cases of typical Rett syndrome had uneventful pre and perinatal periods, loss of previously acquired purposeful hand skills, mental and motor regression and developed hand stereotypies; sixteen had head growth deceleration and 12 gait apraxia. Nine patients were atypical cases, 2 formes frustres, 2 congenital, 3 with early seizure onset, 1 preserved speech and 1 male. Epilepsy was present in 21 patients, predominantly partial seizures and the drug of choise was carbamazepine (15 patients). In the initial evaluation most patients were distributed on Stages II and III and on follow-up on Stages III and IV. Three children died.No perÃodo entre Novembro 1982 e Maio 1999, 28 crianças com SÃndrome de Rett foram seguidas por um perÃodo médio de 6 anos e 2 meses.O inÃcio da regressão do desenvolvimento psicomotor ocorreu entre 5 e 20 meses.Os 19 casos de sÃndrome de Rett tÃpica apresentavam perÃodos pré e perinatal normais,e evoluÃram com perda das habilidades previamente adquiridas, retardo psicomotor e estereotipias de mãos; 16 tinham desaceleração do crescimento craniano e 12 tinham marcha anormal. Nove pacientes foram casos atÃpicos: 2 formas frustras, 2 congênitas, 3 com crises precoces, 1 com fala preservada e 1 sendo do sexo masculino. A epilepsia esteve presente em 21 pacientes com crises predominantemente parciais e a droga de escolha foi a carbamazepina (15 pacientes). Na avaliação inicial a maioria dos pacientes estava distribuÃda em estágios II e III da sÃndrome e evolutivamente passaram aos estágios III e IV, sendo que 3 faleceram.40741
Identification and Functional Characterization of a Novel Mutation in theNKX2-1Gene: Comparison with the Data in the Literature
Background: NKX2-1 mutations have been described in several patients with primary congenital hypothyroidism, respiratory distress, and benign hereditary chorea, which are classical manifestations of the brain-thyroid-lung syndrome (BTLS). Methods: The NKX2-1 gene was sequenced in the members of a Brazilian family with clinical features of BTLS, and a novel monoallelic mutation was identified in the affected patients. We introduced the mutation in an expression vector for the functional characterization by transfection experiments using both thyroidal and lung-specific promoters. Results: The mutation is a deletion of a cytosine at position 834 (ref. sequence NM-003317) (c.493delC) that causes a frameshift with formation of an abnormal protein from amino acid 165 and a premature stop at position 196. The last amino acid of the nuclear localization signal, the whole homeodomain, and the carboxy-terminus of NKX2-1 are all missing in the mutant protein, which has a premature stop codon at position 196 (p.Arg165Glyfs*32). The p.Arg165Glyfs*32 mutant does not bind DNA, and it is unable to transactivate the thyroglobulin (Tg) and the surfactant protein-C (SP-C) promoters. Interestingly, a dose-dependent dominant negative effect of the p.Arg165Glyfs*32 was demonstrated only on the Tg promoter, but not on the SP-C promoter. This effect was also noticed when the mutation was tested in presence of PAX8 or cofactors that synergize with NKX2-1 (P300 and TAZ). The functional effect was also compared with the data present in the literature and demonstrated that, so far, it is very difficult to establish a specific correlation among NKX2-1 mutations, their functional consequence, and the clinical phenotype of affected patients, thus suggesting that the detailed mechanisms of transcriptional regulation still remain unclear. Conclusions: We describe a novel NKX2-1 mutation and demonstrate that haploinsufficiency may not be the only explanation for BTLS. Our results indicate that NKX2-1 activity is also finely regulated in a tissue-specific manner, and additional studies are required to better understand the complexities of genotype-phenotype correlations in the NKX2-1 deficiency syndrome
Perfil neuropsiquiátrico de crianças, adolescentes e jovens adultos com complexo de esclerose tuberosa
Aim: to assess neuropsychiatric disorders and factors related to the intellectual level of patients with Tuberous sclerosis complex (TSC).Method: a cross-sectional study with 20 patients diagnosed with TSC, recruited in a pediatric neurology center, was conducted. Participants were assessed by semi-structured interviews, medical chart information, the Wechsler Intelligence Scale, the Childhood Autism Rating Scale and the Child Behavior Checklist /Adult Self Report. A descriptive analysis of data was performed for each variable. The Comparison between groups with and without intellectual disability was performed using Mann-Whitney U test and Fisher test. Results: Ninety-five percent of the participants presented epilepsy, 45% intellectual deficit and 25% autistic disorder. The sample also presented clinical manifestations of conduct disorder, anxiety disorder and avoidant personality. There was a significant relationship between intellectual deficit and the following variables: number of medications used for epilepsy (p=0.002), use of benzodiazepine in the treatment of epilepsy (p=0.005) and autism (p=0.008).Conclusion: The sample presented a high prevalence of epilepsy, cognitive deficit and psychiatric disorders, as demonstrated by other studies in similar population. Intellectual deficit was associated with a higher number of drugs used to treat epilepsy and autism.Objetivo: avaliar alterações neuropsiquiátricas e avaliar fatores associados a déficit intelectual em pacientes com Complexo de Esclerose Tuberosa (CET).Métodos: estudo transversal com 20 pacientes com diagnóstico de CET em um centro de neurologia pediátrica, avaliados por entrevista, prontuário, Escalas Wechsler de Inteligência, Escala Childhood Autism Rating Scale e Questionário Child Behavior Checklist /Adult Self Report. Foi realizada análise descritiva para caracterização das variáveis e os testes Mann-Whitney U e Teste de Fisher para comparação de grupo sem e com déficit intelectual.Resultados: Noventa e cinco por cento dos participantes apresentou epilepsia, 45% déficit intelectual e 25% autismo. Encontraram-se ainda manifestações clÃnicas de problemas de conduta, ansiedade e personalidade esquiva. Houve relação significativa entre déficit intelectual e as seguintes variáveis: número de medicamentos para controle da epilepsia (p=0,002), uso de benzodiazepÃnicos associados a anticonvulsivantes no tratamento da epilepsia (p=0,005) e autismo (p=0,008).Conclusões: Foi encontrada alta prevalência de epilepsia, déficit cognitivo e manifestações psiquiátricas, condizente com descrições da literatura atual. O déficit intelectual mostrou-se associado a um maior número de fármacos no controle de epilepsia e ao autismo
Psychogenic movement disorders: an unusual presentation in childhood with improvement after placebo test
Proton MR spectroscopy of the foramen of Monro region in patients with tuberous sclerosis complex
Effects of early spasticity treatment on children with hemiplegic cerebral palsy: a preliminary study
- …