Several cases with microscopically visible, terminal 6p deletions have been described, and a distinct clinical phenotype has emerged, including developmental delay, congenital heart malformations, ocular abnormalities, hearing loss and a characteristic facial appearance. We report a patient with a submicroscopic 6p deletion, detected by subtelomeric screening using fluorescence in situ hybridisation. This girl presented with typical facial dysmorphic features, hearing impairment, malformation of the anterior eye segment, an ASD and severe language impairment. However, her cognitive functions were within the normal range. Detailed FISH analysis with 20 BAC probes covering the distal 6p25 region estimated the size of the terminal deletion to 2.1 Mb, and thus this case narrows down the critical region for the 6p phenotype. The forkhead transcription factor gene FOXC1, involved in a spectrum of anterior eye chamber disorders, is deleted in this patient, together with several characterised and putative genes with yet unknown function.

ICF-CY can be useful as a tool for documenting child health. It provides not only a code useful for statistical purposes but also a language useful for the CHS and SHS in their work on individual as well as population levels. It was noted that the health terms used by services mainly focused on health related to body function. This indicates that more focus is needed on health data related to child's functioning in everyday life situations.

The results indicate challenges to develop a common language to document psychosocial issues necessary for providing a holistic view of children's health.

The free text notes mainly reflected a psychosocial perspective on health. The findings of this study suggest that requesting more information on children's psychosocial health in the standardized part of the health records could contribute to more comprehensive and informative health records in the Child health Service and the School Health Service in Sweden.

Aim: This study aims to analyse and link the content of the health information requested in questionnaires used locally in Swedish child and school health services. Background: In industrialized countries, children’s health needs are changing from physical to psychosocial needs and the questionnaires used for health screening and guiding health promotion must therefore adapt to these changes. Methods: Questionnaires were analysed, together with health items linked to the International Classification of Functioning, Disability and Health for Children and Youth (ICF-CY). The inter-rater agreement for linking was 80%. Standard age groups were used to improve the comparability across different questionnaires. Results: The information requested for the youngest children focused on communication and acquiring language. For the children aged 6 years and above, health questionnaires related to mental functions, the school situation, psychosomatic symptoms and issues associated with taking care of one’s health. Conclusions: The information relating to health in questionnaires revealed that interest focused on health items strongly related to the different age groups and to psychosocial health. The focus was the child as a person rather than the child within a family and school environment.