RESUMO
OBJECTIVE: To compare the effect of the programs of IAHP and FHC with ordinary community-based programs. METHOD: Two-year observational study of two groups of children aged 2-15 years who were following the IAHP and FHC programs (N = 18) or community-based programs (N = 17), with additional material from interviews with parents, and a retrospective study (N = 9) based on file records and parent interviews. RESULTS: Changes in motor and cognitive function, language and behavior in the IAHP/FHC group well below the claims made by these programs, and few differences between this group and the comparison group. Intervention satisfaction lower prior to IAHP/FHC intervention than in the comparison group, and increased when moved to IAHP and FHC, independent of the children's progress. CONCLUSION: The substantial claims of superiority compared to other interventions made by IAHP and FHC are not supported, but parents appear to be met in a positive manner in these programs.
Assuntos
Paralisia Cerebral/reabilitação , Desenvolvimento Infantil/fisiologia , Deficiências do Desenvolvimento/reabilitação , Idioma , Academias e Institutos , Logro , Adolescente , Paralisia Cerebral/psicologia , Criança , Comportamento Infantil/psicologia , Pré-Escolar , Cognição , Deficiências do Desenvolvimento/psicologia , Feminino , Humanos , Masculino , Pais/psicologia , Avaliação de Programas e Projetos de Saúde , Estudos Retrospectivos , Resultado do TratamentoRESUMO
We describe two Norwegian children with fascioscapulohumeral muscular dystrophy in whom Coats' disease, deafness, mental retardation and possible epilepsy were the presenting features. The children have a 4q35 deletion giving a small residual repeat fragment that they have inherited from their father who is a mosaic. Fundal changes consistent with bilateral Coats' disease were found in both children. The rapid development of neovascular glaucoma necessitated removal of an eye from one child that on pathological examination showed the classical features of Coats' disease. Cryotherapy was successful in maintaining sight in the other affected eyes.
Assuntos
Oftalmopatias Hereditárias/genética , Predisposição Genética para Doença/genética , Perda Auditiva Neurossensorial/genética , Deficiência Intelectual/genética , Distrofia Muscular Facioescapuloumeral/genética , Mutação/genética , Adolescente , Adulto , Pré-Escolar , Cromossomos Humanos Par 4/genética , Análise Mutacional de DNA , Progressão da Doença , Epilepsia/complicações , Epilepsia/genética , Epilepsia/fisiopatologia , Oftalmopatias Hereditárias/complicações , Oftalmopatias Hereditárias/fisiopatologia , Feminino , Testes Genéticos , Glaucoma/complicações , Glaucoma/genética , Glaucoma/fisiopatologia , Perda Auditiva Neurossensorial/complicações , Perda Auditiva Neurossensorial/fisiopatologia , Humanos , Padrões de Herança/genética , Deficiência Intelectual/complicações , Deficiência Intelectual/fisiopatologia , Masculino , Debilidade Muscular/metabolismo , Debilidade Muscular/patologia , Debilidade Muscular/fisiopatologia , Músculo Esquelético/metabolismo , Músculo Esquelético/patologia , Músculo Esquelético/fisiopatologia , Distrofia Muscular Facioescapuloumeral/complicações , Distrofia Muscular Facioescapuloumeral/fisiopatologia , Linhagem , Doenças Retinianas/complicações , Doenças Retinianas/genética , Doenças Retinianas/fisiopatologiaRESUMO
BACKGROUND: Retinoblastoma is a malignant tumour of the retina that occurs in early childhood. The aim of this paper is to give an updated review of the disease. MATERIAL AND METHODS: A review is given based on literature published over the last few years and on the authors' own experience. RESULTS: The yearly incidence of retinoblastoma is approximately one per 14 000 live births, which gives four new cases of retinoblastoma per year in Norway. The only known risk factor is heritage. Symptoms of retinoblastoma are strabismus, reduced visual acuity and red eye, but the absolutely most important sign is leukokoria (white pupillary reflex). Important diagnostic tools are ophthalmoscopy, ultrasonography, CT and MRI. The goal of treatment is to destroy all tumour tissue, but not the surrounding tissue. Treatment options are enucleation, chemotherapy, external beam radiation, radioactive isotope plaques, cryotherapy, photocoagulation, or a combination of these depending upon the size and location of the tumour. INTERPRETATION: The overall results in the treatment of retinoblastoma are favourable and have improved over the last few years because of better treatment modalities. The survival rate is approximately 95%. It is important that physicians bear in mind the signs of retinoblastoma and especially the alarming sign of leukokoria and acute strabismus in a child.
