27 research outputs found
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
Perfil neurocomportamental de neonatos saudáveis nascidos a termo na escala Neonatal Behavioral Assessment Scale
Revista de Psicologia da Criança e do Adolescente. - ISSN 1647-4120. - V. 5, n. 1 (Janeiro-Junho 2014). - p. 29-40.To describe the responses of healthy full-term Brazilian neonates in the Neonatal Behavioral Assessment Scale (NBAS), comparing the results to the current literature. Methods: In a cross-sectional study, 36 newborns, aged 1 to 3 days, were assessed using the NBAS. Results: The means of the behavioral items were in accordance with data reported by other studies, except for the Orientation cluster, which presented lower values. Boys presented significantly higher scores than girls in three items (pull-to-sit, hand-to-mouth and rapidity of build-up), which may indicate a better motor control. The NBAS showed good internal consistency regarding Orientation, Habituation and Regulation clusters (Cronbach´s alpha 0.94, 0.86 and 0.73, respectively). The reflex items indicate variability in the responses of healthy neonates, with hipoactivity in walking, placing, incurvation, crawling and tonic neck deviation. Conclusion: The present study contributed to an initial description of Brazilian neonates´ profile in the NBAS. Researches with larger samples are suggested
Cerebellar vermis hypoplasia - non progressive congenital ataxia: clinical and radiological findings in a pair of siblings
We describe the clinical and radiological findings of a pair of siblings with cerebellar vermis hypoplasia and compare them with the literature. Both of them present pregnancies and deliveries uneventful and both presented some grade of hypotonia, ataxia, ocular motor abnormalities and mild motor delay and slurred speech. These siblings meet many of the criteria described in non-progressive congenital ataxia in which can occur familial cases with cerebellar atrophy, including vermis hypoplasia. As differential diagnosis we compare them with related syndromes and with Joubert's syndrome which main radiological finding on MRI is vermis hypoplasia associated with "molar tooth" appearance. The correct answer for these cases will only be possible by molecular genetics