M. Bua

Children with Aniridia and Healthcare Systems: From Needs Assessment to a Comprehensive Program of Care and Assistance

Aniridia is a paradigm of the challenges posed to healthcare systems by childhood-onset rare diseases. The care of children with rare diseases presents peculiar aspects of complexity, due to the chronicity of these conditions and their disability spectrum, with different types of impairments and different severity levels, both within the same disease and the same patient across life. Recently, the provision of more comprehensive and effective care has been the aim of health policies specifically addressed to rare disease patients. The experience carried out in this field by the Veneto region (4.9 million inhabitants, north-east of Italy) is presented. An information system, accessed by all the different health professionals involved in patients’ care, has been developed. The system, adopted so far in other seven Italian Regions, allows patients’ recording, treatments’ prescription and provision and the formulation of care plans, according to the individual health care needs’ profile. The process of information sharing can effectively reduce the fragmentation of the care provided to these children and their families by a multiplicity of actors, medical and non-medical ones. Furthermore, it can ease the transition from paediatric to adult care, an emerging crucial issue in the care of children presenting special care needs, as children with aniridia.

634 Digeorge Syndrome: Cognitive and Behavioural Development from Birth to Adolescence

Background and Aims DiGeorge syndrome (DGS) is a rare disease associated with a microdeletion of chromosome 22q11.2. Among clinical signs: heart defects, immunological alterations, psychiatric disorders. DGS children present developmental delay. The aim of this study is to assess cognitive and behavioural development of DGS paediatric patients. Methods Cognitive profile was assessed in a prospective cohort of DGS children referred to Paediatrics Department-Padua University (1993–2012). For a sample of 20 children (11 females, 9 males; 25% < 2 yrs, 25% 3–5 yrs, 50% > 6 yrs), informations were collected on diagnosis, surgical interventions, hospitalizations, treatments/rehab training programs. Cognitive profile was assessed using Griffith’s Mental Development Scales (GMDS) and Wechsler Intelligence Scale for Children-III (WISC-III), depending on children’s age. Behavioural profile was assessed using Child Behavior Checklist (CBCL). Univariate and multivariate descriptive analyses were performed. Results For younger children (GMDS, 10 children), global mental development resulted: 15.4% moderate retardation, 61.5% mild retardation, 30.8% borderline, 7.7% low normal, 15.4% normal. Worse scores are observed in the subscales: language, performance, eye-hand coordination and practical reasoning. For older children (WISC-III, 10 children), 76.9% had Mental Retardation (15.4% moderate MR, 61.5% mild MR), and 23.1% got low Global IQ scores (7.7% borderline, 15.4% low normal). Behavioural profile is barely normal in pre-school children and becomes borderline/clinical in school children (100% disadaptative functioning, 40% internalizing problems, 20% externalizing problems). Conclusions DGS patients have a wide spectrum of developmental delays, which require tailor-made rehab programs, and a worsening in behavioural profile in pre-adolescence and adolescence.