RESUMO
Three children from a sibship of four had congenital contractures, scarce facial expressions, central nervous system dysfunction, and early death. Extensive deposits of calcium compounds were found at postmortem examination of the nervous system and of skeletal muscle. The disorder in these sibs is presumably inherited as an autosomal recessive trait. The metabolic basis for the calcium deposition has yet to be discovered.
Assuntos
Artrogripose/genética , Encéfalo/patologia , Calcinose/genética , Doenças do Sistema Nervoso Central/genética , Genes Recessivos , Artrogripose/patologia , Calcinose/patologia , Doenças do Sistema Nervoso Central/patologia , Expressão Facial , Feminino , Humanos , Recém-NascidoAssuntos
Febre/etiologia , Insuficiência Respiratória/etiologia , Crise Tireóidea/complicações , Pré-Escolar , Dantroleno/uso terapêutico , Quimioterapia Combinada , Feminino , Febre/tratamento farmacológico , Humanos , Propranolol/administração & dosagem , Propiltiouracila/administração & dosagem , Crise Tireóidea/tratamento farmacológicoRESUMO
Two patients with an inverted duplication of bands 8p21-p23 are described. The gene for glutathione reductase (GSR; E.C.1.6.4.2) has previously been localized to band 8p21. In one of the patients subband 8p21.1 was included in the duplication; GSR activity in the red blood cells was increased. In the other patient, subband 8p21.1 was not included in the duplication and GSR activity was normal. This allows GSR to be assigned to subband 8p21.1. Including the present 2 patients, at least 13 cases of this abnormality have been published. We have obtained data on at least 8 further cases (unpublished). We conclude that inv dup (8p) is a non-randomly occurring de novo structural aberration in man. The GSR results in our cases prove that breakpoints can be different in different patients. Clinical symptoms and signs include some common features but show marked interpatient variation which should, at least in part, be caused by the differences in break-points. A detailed collaborative study to determine the clinical and epidemiological features of this entity is recommended.
Assuntos
Aberrações Cromossômicas , Cromossomos Humanos 6-12 e X , Glutationa Redutase/genética , Bandeamento Cromossômico , Feminino , Humanos , Lactente , Masculino , FenótipoRESUMO
A new assessment instrument the Children's Handicaps, Behaviour and Skills Schedule (HBS Schedule), constructed in England, has been used in a Danish epidemiological survey to interview the parents and professionals involved with 148 severely retarded children. Results as to reliability between informants and congruity with similar results from a study in Camberwell, England, are presented and discussed. It is concluded that the HBS Schedule constitutes a very valuable supplement in the evaluation of such children and deserves propagation for routine application, provided satisfactory instructions to interviewers can be given.
Assuntos
Deficiência Intelectual/diagnóstico , Testes Psicológicos , Adolescente , Criança , Transtornos do Comportamento Infantil/diagnóstico , Desenvolvimento Infantil , Pré-Escolar , Humanos , Lactente , Entrevista Psicológica , Destreza MotoraAssuntos
Pessoas com Deficiência , Família , Assistência Domiciliar/economia , Adolescente , Criança , Humanos , Qualidade de Vida , Fatores de TempoAssuntos
Aberrações Cromossômicas/genética , Cromossomos Humanos 4-5 , Adolescente , Transtornos Cromossômicos , Cromossomos Humanos 6-12 e X , Dermatoglifia , Face , Feminino , Heterocromatina , Humanos , Deficiência Intelectual/etiologia , Cariotipagem , Tono Muscular , Linhagem , Transtornos Psicomotores/etiologia , SíndromeRESUMO
An epidemiological census investigation on severe mental retardation among children under 15 years were carried out on July 1, 1970, in the community of Aarhus. Case finding procedures are described in detail. One hundred and seventy-one severely retarded children were found in total population of 233,162 with 50,667 children under 15 years. The age-specific prevalence rate was 3.38 per 1,000. About 20% of the severely retarded children are not registered in the Danish National Mental Retardation Service when they reached school age. One third of the children are under residental care, but only half of these are in subnormality hospitals while the other half reside in waiting homes. Among 64% living at home, two thirds receive day-care or training. Comparisons are made especially with two other prevalence surveys, one covering the same area, and the other identical in methods.
Assuntos
Deficiência Intelectual/epidemiologia , Adolescente , Criança , Pré-Escolar , Dinamarca , Educação de Pessoa com Deficiência Intelectual , Feminino , Hospitais Psiquiátricos , Humanos , Lactente , Deficiência Intelectual/terapia , Masculino , Serviços de Saúde Mental , Unidade Hospitalar de PsiquiatriaRESUMO
Coagulation studies were performed in three patients with trisomy for chromosome No. 8. In contrast to the findings reported by others, all patients were found to have a normal coagulation status without sign of factor VII deficiency.