15 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 período entre Novembro 1982 e Maio 1999, 28 crianças com Síndrome de Rett foram seguidas por um período médio de 6 anos e 2 meses.O início da regressão do desenvolvimento psicomotor ocorreu entre 5 e 20 meses.Os 19 casos de síndrome de Rett típica apresentavam períodos pré e perinatal normais,e evoluíram 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 atípicos: 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 distribuída em estágios II e III da síndrome e evolutivamente passaram aos estágios III e IV, sendo que 3 faleceram.40741
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.
Типология славянского глагольного вида: обзор теории славянского глагольного вида ‘восток–запад’
Prosodic Smothering in Macedonian and Kaqchikel
This article deals with a so-far unnoticed phenomenon in prosodic phonology, which we dub prosodic smothering. Prosodic smothering arises when the prosodic status of a clitic or affix varies with the presence or absence of some outer morpheme. We first illustrate prosodic smothering with novel data from two genetically unrelated languages, Macedonian (Slavic) and Kaqchikel (Mayan). We then provide a unified account of prosodic smothering based on a principled extension of the theory of prosodic subcategorization (e.g., Inkelas 1990 , Peperkamp 1997 , Chung 2003 , Yu 2003 , Paster 2006 , Bye 2007 ). Prosodic subcategorization typically involves requirements placed on items to the left or the right of the selecting morpheme. We show that prosodic smothering naturally emerges in a theory that also allows for subcategorization in the vertical dimension, such that morphemes may select for the prosodic category that immediately dominates them in surface prosodic structure. This extension successfully reduces two apparent cases of nonlocal prosodic conditioning to the effects of strictly local prosodic selection