Course, prognosis and complications of childhood-onset myotonic dystrophy / T. A. O'BRIEN in Developmental Medicine & Child Neurology, 26-1 (February 1984)

Public ISBD [article]  inDevelopmental Medicine & Child Neurology > 26-1 (February 1984) . - p.62-67 Titre : Course, prognosis and complications of childhood-onset myotonic dystrophy Type de document : Texte imprimé et/ou numérique Auteurs : T. A. O'BRIEN, Auteur ; P. S. HARPER, Auteur Année de publication : 1984 Article en page(s) : p.62-67 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : The outcome for 71 patients with childhood-onset myotonic dystrophy was examined. In addition to 18 patients with later onset, but presenting in childhood, and 46 with the congenital form, seven patients from congenital sibships who did not present in the neonatal period were found to have myotonic dystrophy of intermediate severity. The incidence of the congenital form in South Wales was six per 100,000. In all groups the mortality rate was low after the perinatal period. The prognosis for normal family life and ultimate gainful employment was poor. Testicular atrophy in congenitally affected males was evident at puberty, and there was a high incidence of gastro-intestinal problems. The contributions of deafness as a result of recurrent otitis, and of severe articulation defects, should be considered when assessing the degree of mental handicap. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573 [article] Course, prognosis and complications of childhood-onset myotonic dystrophy [Texte imprimé et/ou numérique] / T. A. O'BRIEN, Auteur ; P. S. HARPER, Auteur . - 1984 . - p.62-67. Langues : Anglais (eng) in Developmental Medicine & Child Neurology > 26-1 (February 1984) . - p.62-67 Index. décimale : PER Périodiques Résumé : The outcome for 71 patients with childhood-onset myotonic dystrophy was examined. In addition to 18 patients with later onset, but presenting in childhood, and 46 with the congenital form, seven patients from congenital sibships who did not present in the neonatal period were found to have myotonic dystrophy of intermediate severity. The incidence of the congenital form in South Wales was six per 100,000. In all groups the mortality rate was low after the perinatal period. The prognosis for normal family life and ultimate gainful employment was poor. Testicular atrophy in congenitally affected males was evident at puberty, and there was a high incidence of gastro-intestinal problems. The contributions of deafness as a result of recurrent otitis, and of severe articulation defects, should be considered when assessing the degree of mental handicap. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573

Early Development Of Boys With Duchenne Muscular Dystrophy / Rachael A. SMITH in Developmental Medicine & Child Neurology, 32-6 (June 1990)

Public ISBD [article]  inDevelopmental Medicine & Child Neurology > 32-6 (June 1990) . - p.519-527 Titre : Early Development Of Boys With Duchenne Muscular Dystrophy Type de document : Texte imprimé et/ou numérique Auteurs : Rachael A. SMITH, Auteur ; J. R. SIBERT, Auteur ; P. S. HARPER, Auteur Année de publication : 1990 Article en page(s) : p.519-527 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Développement précoce d'une myopathie de Duchenne Trente-trois garçons avec myopathie de Duchenne (DMD) et un âge moyen de troisans quatre mois ont été examinés aux Echelles de Développement de Griffiths, aux Echelles de Langage de Reynell et à la British Picture Vocabulary Scales à six mois d'intervalle sur une période d'un an. Les garçons présentaient un retard de développement particulièrement marqué pour la locomotion et le langage. Les quotients de locomotion se détérioraient en fontion du temps mais pas les autres quotients. L'intelligence maternelle, l'environnement à la maison et la classe sociale avaient peu d'effets sur l'étiologie du retard de développement et les problèmes comportementaux observés chez les jeunes gaçons avec DMD peuvent être secondaires à ce retard. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=134 [article] Early Development Of Boys With Duchenne Muscular Dystrophy [Texte imprimé et/ou numérique] / Rachael A. SMITH, Auteur ; J. R. SIBERT, Auteur ; P. S. HARPER, Auteur . - 1990 . - p.519-527. Langues : Anglais (eng) in Developmental Medicine & Child Neurology > 32-6 (June 1990) . - p.519-527 Index. décimale : PER Périodiques Résumé : Développement précoce d'une myopathie de Duchenne Trente-trois garçons avec myopathie de Duchenne (DMD) et un âge moyen de troisans quatre mois ont été examinés aux Echelles de Développement de Griffiths, aux Echelles de Langage de Reynell et à la British Picture Vocabulary Scales à six mois d'intervalle sur une période d'un an. Les garçons présentaient un retard de développement particulièrement marqué pour la locomotion et le langage. Les quotients de locomotion se détérioraient en fontion du temps mais pas les autres quotients. L'intelligence maternelle, l'environnement à la maison et la classe sociale avaient peu d'effets sur l'étiologie du retard de développement et les problèmes comportementaux observés chez les jeunes gaçons avec DMD peuvent être secondaires à ce retard. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=134

The natural history of the severe form of Hunter's syndrome: a study based on 52 cases / Ian D. YOUNG in Developmental Medicine & Child Neurology, 25-4 (August 1983)

Public ISBD [article]  inDevelopmental Medicine & Child Neurology > 25-4 (August 1983) . - p.481-489 Titre : The natural history of the severe form of Hunter's syndrome: a study based on 52 cases Type de document : Texte imprimé et/ou numérique Auteurs : Ian D. YOUNG, Auteur ; P. S. HARPER, Auteur Année de publication : 1983 Article en page(s) : p.481-489 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : During a national survey of Hunter's syndrome, 52 boys with the severe form were ascertained. The average ages of onset and death were 2.47 and 11.77 years respectively. Most patients had a large head and short stature. Persistent diarrhoea was noted in 65 per cent of the patients. 76 per cent had an umbilical hernia. Right and left inguinal herniae were noted in 51 and 32 per cent respectively. Evidence of cardiovascular disease was found in 65 per cent of cases; and serious lower respiratory-tract disease occurred in 84 per cent. Induction of anaesthesia proved difficult or impossible in five boys. The disease pattern was dominated by the effects of neurological involvement, with initial developmental delay and behavioural disturbance, followed by regression, with convulsions and pyramidal tract signs. Death was due primarily to this neurodegenerative cachexia, with superimposed respiratory disease. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=567 [article] The natural history of the severe form of Hunter's syndrome: a study based on 52 cases [Texte imprimé et/ou numérique] / Ian D. YOUNG, Auteur ; P. S. HARPER, Auteur . - 1983 . - p.481-489. Langues : Anglais (eng) in Developmental Medicine & Child Neurology > 25-4 (August 1983) . - p.481-489 Index. décimale : PER Périodiques Résumé : During a national survey of Hunter's syndrome, 52 boys with the severe form were ascertained. The average ages of onset and death were 2.47 and 11.77 years respectively. Most patients had a large head and short stature. Persistent diarrhoea was noted in 65 per cent of the patients. 76 per cent had an umbilical hernia. Right and left inguinal herniae were noted in 51 and 32 per cent respectively. Evidence of cardiovascular disease was found in 65 per cent of cases; and serious lower respiratory-tract disease occurred in 84 per cent. Induction of anaesthesia proved difficult or impossible in five boys. The disease pattern was dominated by the effects of neurological involvement, with initial developmental delay and behavioural disturbance, followed by regression, with convulsions and pyramidal tract signs. Death was due primarily to this neurodegenerative cachexia, with superimposed respiratory disease. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=567

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