Heritable disorders of connective tissue and disability and chronic disease in childhood.
The heritable disorders of connective tissue encompass a broad range of diseases, many of which occur in childhood and present to the pediatric rheumatologist's attention. The underlying theme of these disorders is fragility of connective tissue components such as bone, cartilage, and blood vessels. Over the past few years, investigations of patients with the major forms of heritable disorders of connective tissue, osteogenesis imperfecta, Marfan syndrome, and Ehlers-Danlos syndrome have revealed genetic mutations of collagen genes as the cause of the diseases. Review of the newest genetic information in these three disorders is presented. The rheumatic disorders of childhood present a paradigm for the effects of chronic disease on children and families. New work, discussed in this review, continues to suggest changes in psychosocial adaptation in children with chronic rheumatic diseases and their families, but these data are conflicting. The development of arthritis impact measures may help workers in pediatric rheumatology care to have a broader and more in-depth understanding of the effect of this chronic disease on functioning, psychosocial development, and family and peer interactions.
Tucker
L B
LB
Floating Hospital for Infants and Children, Boston, Massachusetts.
D001171:Arthritis, Juvenile / Q000523:psychology; D002648:Child; D003240:Connective Tissue Diseases / Q000209:etiology / Q000235:genetics*; D004535:Ehlers-Danlos Syndrome / Q000145:classification / Q000235:genetics; D006801:Humans; D007593:Joint Instability / Q000209:etiology; D008382:Marfan Syndrome / Q000209:etiology; D010013:Osteogenesis Imperfecta / Q000209:etiology; D012216:Rheumatic Diseases / Q000209:etiology