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Heritable disorders of connective tissue and disability and chronic disease in childhood
1Floating Hospital for Infants and Children, Boston, Massachusetts.
Insights
Genetic mutations in collagen genes cause heritable connective tissue disorders like osteogenesis imperfecta, Marfan syndrome, and Ehlers-Danlos syndrome. Research also explores psychosocial impacts of chronic rheumatic diseases in children.
Area of Science:
- Pediatric Rheumatology
- Genetics of Connective Tissue Disorders
- Childhood Rheumatic Diseases
Background:
- Heritable disorders of connective tissue (HDCT) affect bone, cartilage, and blood vessels, often presenting in childhood.
- Major HDCTs include osteogenesis imperfecta, Marfan syndrome, and Ehlers-Danlos syndrome.
- Chronic rheumatic diseases in children impact psychosocial adaptation, though data remain conflicting.
Purpose of the Study:
- To review the latest genetic findings in major heritable disorders of connective tissue.
- To discuss the psychosocial effects of chronic rheumatic diseases on affected children and their families.
- To highlight the importance of arthritis impact measures in pediatric rheumatology.
Main Methods:
- Review of recent genetic investigations into osteogenesis imperfecta, Marfan syndrome, and Ehlers-Danlos syndrome.
- Analysis of current research on psychosocial adaptation in children with chronic rheumatic diseases.
- Discussion of the utility of developing new arthritis impact measures.
Main Results:
- Genetic mutations in collagen genes are identified as the cause of major HDCTs.
- Conflicting data exist regarding psychosocial adaptation changes in children with chronic rheumatic diseases.
- Arthritis impact measures are crucial for understanding the comprehensive effects of chronic disease.
Conclusions:
- Advances in genetic research have elucidated the molecular basis of key heritable connective tissue disorders.
- Further research is needed to clarify the psychosocial challenges faced by children with chronic rheumatic conditions.
- Improved assessment tools are essential for holistic pediatric rheumatology care.
Abstract:
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.
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