International Classification of Functioning, Disability and Health in children with congenital central hypoventilation syndrome

Abstract

Purpose. The main aim of this study is to examine the functioning of children with congenital central hypoventilation syndrome (CCHS), a rare disorder of respiratory control associated with physiological and anatomical manifestations of a generalised autonomic nervous system dysfunction, using WHO's International Classification of Functioning, Disability and Health, Children and Youth version (ICF-CY).

Method. The data of 26 children, (F = 17) aged 1.5–17.5 years, were collected. Data were analysed in the following four age groups: <3, 3–6, 7–12 and 13–18 years, using only the ICF-CY questionnaires' cross-age items.

Results. In the body functions, component breathing and paying attention were common problems for four age groups. In the activity and participation component, all children, except adolescents, showed problems with language. Furthermore, problems in social interaction were evident for all age ranges, except the youngest. Finally, in the environmental factors component, parents reported limitations concerning the natural environment and human-made changes to the environment that were common to all ages.

Conclusions. The study supports the usefulness of supplementing diagnostic classifications with functional classifications to obtain complete information on health-related conditions in children with CCHS.

Keywords:

• Congenital central hypoventilation syndrome
• health care quality
• environmental health
• child developmental

Acknowledgements

This research was partially supported by an unrestricted educational grant from the Italian Association of Congenital Central Hypoventilation Syndrome. We thank the Italian Association of Congenital Central Hypoventilation Syndrome for the support in the recruitment of families. We are grateful to all the children and the parents who participated. We also thank Dr. Isabella Ceccherini, geneticist at Laboratory Molecular Biology of the Giannina Galsini Institute (Genova, Italy), who did the genetic analyses of all patients.