The Swedish version of the Childhood Health Assessment Questionnaire (CHAQ) and the Child Health Questionnaire (CHQ).

We report herein the results of the cross-cultural adaptation and validation into the Swedish language of the parent's version of two health related quality of life instruments. The Childhood Health Assessment Questionnaire (CHAQ) is a disease specific health instrument that measures functional ability in daily living activities in children with juvenile idiopathic arthritis (JIA). The Child Health Questionnaire (CHQ) is a generic health instrument designed to capture the physical and psychosocial well-being of children independently from the underlying disease. The Swedish CHAQ CHQ were already published and therefore were revalidated in this study. A total of 129 subjects were enrolled: 69 patients with JIA (13% systemic onset, 39% polyarticular onset, 25% extended oligoarticular subtype, and 23% persistent oligoarticular subtype) and 60 healthy children. The CHAQ clinically discriminated between healthy subjects and JIA patients, with the systemic, polyarticular and extended oligoarticular subtypes having a higher degree of disability, pain, and a lower overall well-being when compared to their healthy peers. Also the CHQ clinically discriminated between healthy subjects and JIA patients, with the systemic onset, polyarticular onset and extended oligoarticular subtypes having a lower physical and psychosocial well-being when compared to their healthy peers. In conclusion the Swedish version of the CHAQ-CHQ are reliable, and valid tools for the functional, physical and psychosocial assessment of children with JIA.

[Homozygous protein C deficiency can be detected by prenatal diagnosis]. / Fosterdiagnostik kan avslöja homozygot protein C-brist.

Homozygous protein C deficiency (HPCD) with purpura fulminans is a rare condition with an estimated incidence of 1-2 per 400,000 births. About 20 case reports have appeared since the first one was published in 1983. HPCD provides an excellent illustration of the fundamental importance of the protein C anticoagulant pathway. This severe coagulopathy results in serious organ damage, often already in utero, and without treatment it is incompatible with life. The treatment options include fresh frozen plasma and protein C concentrate in the acute phase, followed by oral anticoagulant therapy. Over 160 different point mutations in the protein C gene have been identified in recent years, offering new possibilities for prenatal diagnosis. The article describes the case of a family who lost two children with congenital HPCD. But where the specific point mutation was identified thus enabling prenatal diagnosis to be performed in a subsequent pregnancy.