ICon-E: Initial Concerns Extended. Lessons from Fragile X Syndrome.

Fragile X syndrome (FXS) is the leading known heritable cause of intellectual disability. Individuals with FXS display a wide range of physical and neurobehavioural abnormalities. Unlike some other genetic disorders, FXS has no apparent dysmorphic features in early infancy. Therefore, behavioural biomarkers must be recognised as a first step to identification. Despite the fact that most parents report first concerns about their children with FXS as early as infancy, the average age of FXS diagnosis is three years or later. Earlier recognition and diagnosis of the disorder is hindered by a general lack of information regarding the early development of the FXS phenotype. Scientists and clinicians are often forced to rely on parents reports and concerns regarding atypical development to initiate diagnostic cascades, decide to wait and see, or conduct scientific studies. However, in a time of changing childcare practices (due to dual-career family models, for example), more and more infants are being cared for in outside-care facilities during their first two years of life. Professional day care providers (PDCPs) are citizen scientists who may not be specifically trained to look for developmental peculiarities, but they are experts in childcare and in dealing with a broad spectrum of typically- and atypically-developing infants and toddlers day-in, day- out. Because of this, we need to consider the knowledge PDCPs have regarding the cognitive, motor, speech-language and social development of infants and toddlers. In the proposed project, combining the retrospective analysis of home videos with accompanied structured questionnaires, we aim to investigate whether the PDCPs recognise early deviant development related to disorders such as FXS. Input from citizen scientists may enrich researchers understanding of the earliest development and phenotype of various disorders beyond FXS. Collaboration between parents, PDCPs, researchers, and clinicians might prove fruitful and even necessary in pursuing our ultimate goal of earlier diagnosis and timely intervention for children with various developmental disorders.

Day-care workers are not trained healthcare professionals and it is not their responsibility to identify children with an atypical development. Rather, with their intensive daily interaction with young children of different developmental profiles, they might be among the first to notice aberrant development in very young children. Our study strongly suggested that specialised training shedding light on developmental pecularities beyond the general childcare preparation may underpin the sensitivity to identify typical and atypical features in early development. Our healthcare system might benefit most from day-care workers by allocating staff members with advanced training and experience in every childcare institution, who will facilitate daily developmental surveillance and may act as pre-screeners to help healthcare professionals identify otherwise late recognized developmental disorders at a younger age.