Aim: 1) To assess the reliability and validity of the Swedish version of the Child Health Questionnaire (CHQ), 2) to determine the correlation between children’ s and parents’ responses to the CHQ, and 3) to describ...Aim: 1) To assess the reliability and validity of the Swedish version of the Child Health Questionnaire (CHQ), 2) to determine the correlation between children’ s and parents’ responses to the CHQ, and 3) to describe and compare responses to the CHQ of four diagnostic groups. Methods: A total of 199 Swedish children aged 9- 16 with diagnoses of asthma (n = 53), diabetes (n = 48), short stature (n = 51) and juvenile chronic arthritis (JCA, n = 47) and their parents answered the CHQ and relevant validation instruments at a clinic check- up. Coefficient alphas were determined for all dimensions of the instrument, and all but four had acceptable to very good reliability (0.75- 0.94). Results: Concerning construct validity, the CHQ correlated significantly with appropriate dimensions of the validation instruments. In general, there were significant correlations between the children’ s and parents’ responses. Comparisons between the diagnostic groups showed several significant differences. The short stature group had the highest quality of life and the JCA group the lowest. There were no sex differences, but children who had not reached puberty scored better on the dimensions of mental health and self- esteem. Conclusion: The Swedish version of the CHQ is a reliable and valid instrument. Furthermore, it is recommended to ask children themselves about their healthrelated quality of life.展开更多
The aim of this studywas to investigate and describe the presenting phenotype of children with the 22q11 deletion syndrome and to describe common clinical features that could serve as guidelines in the clinical diagno...The aim of this studywas to investigate and describe the presenting phenotype of children with the 22q11 deletion syndrome and to describe common clinical features that could serve as guidelines in the clinical diagnostic process preceding genetic testing. A hospital-based study of 100 consecutive children and adolescents with 22q11 deletion was initiated. The patients were divided into two groups according to age at diagnosis: before or after 2 years of age. Clinical features were grouped into a core set of eight features: cardiac defects, non-visible/hypoplastic thymus or infection problems, hypocalcaemia, feeding difficulties, cleft palate/speech-language impairment, developmental delay/learning difficulties, characteristic dysmorphic features and other malformations and deformities. The median age at diagnosis was 6.7 years. Of all patients, 26% were diagnosed in infancy and 92% had a congenital cardiac defect, whereas 54% of those diagnosed later had a cardiac defect. A cleft palate was present in 25 cases and 44 had some other malformation or deformity. All presented with a combination of many of the core features. Of those diagnosed after 2 years of age, the majority presented with speech-language impairment, developmental delay or learning difficulties and recurrent infections. Characteristic mild dysmorphic features were noticed in all children. Conclusion: In spite of variable clinical expression, children with 22q11 deletion share a number of major features and have a characteristic phenotype. A high proportion have no cardiac defect and hence a risk of diagnostic delay. Increased awareness and knowledge among general paediatricians and other specialists who meet these children early in life is needed to reduce the diagnostic delay.展开更多
文摘Aim: 1) To assess the reliability and validity of the Swedish version of the Child Health Questionnaire (CHQ), 2) to determine the correlation between children’ s and parents’ responses to the CHQ, and 3) to describe and compare responses to the CHQ of four diagnostic groups. Methods: A total of 199 Swedish children aged 9- 16 with diagnoses of asthma (n = 53), diabetes (n = 48), short stature (n = 51) and juvenile chronic arthritis (JCA, n = 47) and their parents answered the CHQ and relevant validation instruments at a clinic check- up. Coefficient alphas were determined for all dimensions of the instrument, and all but four had acceptable to very good reliability (0.75- 0.94). Results: Concerning construct validity, the CHQ correlated significantly with appropriate dimensions of the validation instruments. In general, there were significant correlations between the children’ s and parents’ responses. Comparisons between the diagnostic groups showed several significant differences. The short stature group had the highest quality of life and the JCA group the lowest. There were no sex differences, but children who had not reached puberty scored better on the dimensions of mental health and self- esteem. Conclusion: The Swedish version of the CHQ is a reliable and valid instrument. Furthermore, it is recommended to ask children themselves about their healthrelated quality of life.
文摘The aim of this studywas to investigate and describe the presenting phenotype of children with the 22q11 deletion syndrome and to describe common clinical features that could serve as guidelines in the clinical diagnostic process preceding genetic testing. A hospital-based study of 100 consecutive children and adolescents with 22q11 deletion was initiated. The patients were divided into two groups according to age at diagnosis: before or after 2 years of age. Clinical features were grouped into a core set of eight features: cardiac defects, non-visible/hypoplastic thymus or infection problems, hypocalcaemia, feeding difficulties, cleft palate/speech-language impairment, developmental delay/learning difficulties, characteristic dysmorphic features and other malformations and deformities. The median age at diagnosis was 6.7 years. Of all patients, 26% were diagnosed in infancy and 92% had a congenital cardiac defect, whereas 54% of those diagnosed later had a cardiac defect. A cleft palate was present in 25 cases and 44 had some other malformation or deformity. All presented with a combination of many of the core features. Of those diagnosed after 2 years of age, the majority presented with speech-language impairment, developmental delay or learning difficulties and recurrent infections. Characteristic mild dysmorphic features were noticed in all children. Conclusion: In spite of variable clinical expression, children with 22q11 deletion share a number of major features and have a characteristic phenotype. A high proportion have no cardiac defect and hence a risk of diagnostic delay. Increased awareness and knowledge among general paediatricians and other specialists who meet these children early in life is needed to reduce the diagnostic delay.
