Consequences of rare diagnoses for education and daily life: development of an observation instrument

BACKGROUND: Ågrenska, a Swedish national centre for rare diagnoses and health conditions, has arranged courses for families of children with rare diagnoses for over thirty years, and has experienced that the conditions often have complex and varying consequences in the children´s everyday lives, not least in educational contexts. Knowledge of these consequences and of how to adapt the environment and educational methods is often lacking and the children´s educational needs are not met. Many professionals also report a lack of sources of knowledge. Knowledge formation and dissemination about educational consequences of rare diagnoses are thus of utmost importance. For this purpose, a broad observation instrument was constructed in order to gather knowledge on a group level concerning how functional impairments affect school and everyday situations, how consequences vary within each diagnosis and if there are diagnosis-specific features that lead to specific every day and pedagogical consequences. RESULTS: The instrument consists of 119 quantitative and 65 qualitative items and covers ten domains: social and communicative ability, emotions and behaviours, communication and language, ability to manage his/her disability and everyday life, activities of daily life, gross and fine motor skills, perception and worldview, prerequisites for learning and basic school abilities. The instrument is intended for use by educational professionals with knowledge of typical development and was content validated against existing instruments. The items were considered relevant as they, with few exceptions, appear in well-known assessment tools. Interrater reliability was based on the observations of six children. Each child was observed by two educators. Interrater reliability was calculated for the quantitative items and items with fixed response options, including yes/no answers, a total of 100 items, which are usually observed during the course. Interrater reliability reached 91%. Factor analysis and Cronbach´s alpha indicated good statistical properties and a multinomial regression gave reasonable results. CONCLUSIONS: The instrument can be used to gather knowledge on a group level of educational and everyday consequences of rare diagnoses. This knowledge can be used to adapt methods and environment to meet the educational needs and create conditions for optimal learning and participation for children with rare health conditions. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13023-022-02303-y.