Designing rare disease care pathways in the Republic of Ireland: a co-operative model.

BACKGROUND: Rare diseases (RDs) are often complex, serious, chronic and multi-systemic conditions, associated with physical, sensory and intellectual disability. Patients require follow-up management from multiple medical specialists and health and social care professionals involving a high level of integrated care, service coordination and specified care pathways. METHODS AND OBJECTIVES: This pilot study aimed to explore the best approach for developing national RD care pathways in the Irish healthcare system in the context of a lack of agreed methodology. Irish clinical specialists and patient/lived experience experts were asked to map existing practice against evidence-based clinical practice guidelines (CPGs) and best practice recommendations from the European Reference Networks (ERNs) to develop optimal care pathways. The study focused on the more prevalent, multisystemic rare conditions that require multidisciplinary care, services, supports and therapeutic interventions. RESULTS: 29 rare conditions were selected across 18 ERNs, for care pathway development. Multidisciplinary input from multiple specialisms was relevant for all pathways. A high level of engagement was experienced from clinical leads and patient organisations. CPGs were identified for 26 of the conditions. Nurse specialist, Psychology, Medical Social Work and Database Manager roles were deemed essential for all care pathways. Access to the therapeutic Health Service Professionals: Physiotherapy, Occupational Therapy, and Speech and Language Therapy were seen as key requirements for holistic care. Genetic counselling was highlighted as a core discipline in 27 pathways demonstrating the importance of access to Clinical Genetics services for many people with RDs. CONCLUSIONS: This study proposes a methodology for Irish RD care pathway development, in collaboration with patient/service user advocates. Common RD patient needs and health care professional interventions across all pathways were identified. Key RD stakeholders have endorsed this national care pathway initiative. Future research focused on the implementation of such care pathways is a priority.

Meeting the health care needs of school-age children with intellectual disability.

Intellectual disability (ID) is common and is known to affect 1-3% of the population. There is a lack of medical epidemiological data in Ireland for this group. Such data is necessary in providing the evidence base to plan for rehabilitation services, provide ongoing health care and consider prevention strategies. We report on the underlying diagnosis and co-morbidities of the school-age children in one Health Service Executive area. There were 97 children. Forty seven (48.5%) of the children have a chromosomal or genetic explanation for their disability, 16 (16.5%) have an environmental cause and 34 (35%) have no identified cause. The children have complex medical needs: 35 (36%) have epilepsy and 34 (35%) have gastro-intestinal problems; 24 (25%) have a respiratory condition and 15 (15%) have congenital heart disease. Thirty one (32%) and 30 (31%) have visual and hearing impairment respectively. Expansion of the National Intellectual Disability Database should be explored to include the medical epidemiological data to inform the future development of services for Intellectually Disabled.

Assessment and diagnosis of depression in people with intellectual disability.

BACKGROUND: Despite widespread acceptance that depression can occur in adults with intellectual disability (ID), the difficulties encountered in its assessment and diagnosis have hampered the individual clinician, and meant that questions of prevalence, treatment choice and outcome remain problematic. METHOD: The present paper reviews the progress in this field since three reviews, all published in the mid-1990s, recommended further attention to three interlinked issues: diagnostic criteria, the symptoms of depression in this group and the lack of rating scales. RESULTS: Despite a further 11 published papers and other studies in progress, the method of diagnosis for people with severe and profound ID remains debatable, with some authors advocating adherence to standard criteria, others suggesting adding criteria to the standard ones and yet others believing that substitute criteria are called for. However, for those with mild to moderate ID, a consensus is emerging that standard diagnostic criteria are appropriate. There has been progress in examining some of the symptoms which might constitute depression in people with ID. New diagnostic criteria issued by the Royal College of Psychiatrists are to be welcomed. There is an assumption in much of the research that symptoms of behaviour commonly termed challenging or maladaptive must be atypical symptoms of depression, but none of the studies reviewed demonstrate this effectively. This is compounded by methodological flaws in the way that depressed samples are arrived at for further study. Although new rating scales have emerged, there is as yet no gold standard diagnostic tool for depression amongst people with ID. CONCLUSIONS: It is suggested that, given these difficulties, the validity of the conceptual frameworks for depression is still in doubt. It remains the case that large-scale, collaborative, prospective studies are called for.

Behavioural training for nurses in mental handicap: an application of the EDY course.

The role of the nurse in the care of mentally handicapped people is increasingly one of teaching and training using behavioural methods, as witnessed, for example, by the new RNMS syllabus. Methods of providing suitable training to equip staff for this changing role are discussed and it is concluded that an economic and effective method may be through locally organized in-service training. One particular in-service course--the education of the developmentally young course for mental handicap practitioners--is described and its applications in two health authorities in the UK are discussed.