Initiating an undiagnosed diseases program in the Western Australian public health system.

BACKGROUND: New approaches are required to address the needs of complex undiagnosed diseases patients. These approaches include clinical genomic diagnostic pipelines, utilizing intra- and multi-disciplinary platforms, as well as specialty-specific genomic clinics. Both are advancing diagnostic rates. However, complementary cross-disciplinary approaches are also critical to address those patients with multisystem disorders who traverse the bounds of multiple specialties and remain undiagnosed despite existing intra-specialty and genomic-focused approaches. The diagnostic possibilities of undiagnosed diseases include genetic and non-genetic conditions. The focus on genetic diseases addresses some of these disorders, however a cross-disciplinary approach is needed that also simultaneously addresses other disorder types. Herein, we describe the initiation and summary outcomes of a public health system approach for complex undiagnosed patients - the Undiagnosed Diseases Program-Western Australia (UDP-WA). RESULTS: Briefly the UDP-WA is: i) one of a complementary suite of approaches that is being delivered within health service, and with community engagement, to address the needs of those with severe undiagnosed diseases; ii) delivered within a public health system to support equitable access to health care, including for those from remote and regional areas; iii) providing diagnoses and improved patient care; iv) delivering a platform for in-service and real time genomic and phenomic education for clinicians that traverses a diverse range of specialties; v) retaining and recapturing clinical expertise; vi) supporting the education of junior and more senior medical staff; vii) designed to integrate with clinical translational research; and viii) is supporting greater connectedness for patients, families and medical staff. CONCLUSION: The UDP-WA has been initiated in the public health system to complement existing clinical genomic approaches; it has been targeted to those with a specific diagnostic need, and initiated by redirecting existing clinical and financial resources. The UDP-WA supports the provision of equitable and sustainable diagnostics and simultaneously supports capacity building in clinical care and translational research, for those with undiagnosed, typically rare, conditions.

Effectiveness of the Koorliny Moort out-of-hospital health care program for Aboriginal and Torres Strait Islander children in Western Australia.

OBJECTIVES: To determine whether the Koorliny Moort program could reduce emergency department presentations, hospital admissions and length of stay, and improve attendance at out-of-hospital appointments for Aboriginal and Torres Strait Islander children in Western Australia. DESIGN: Children were enrolled in the program from 1 August 2012. Each child acted as their own control. Evaluation data were collected from 1 August 2010 to 31 July 2014. Occasions of service and person-time in days were compared for each child before and after referral to the program. SETTING AND PARTICIPANTS: Aboriginal children aged 0-16 years residing in three WA regions (Kimberley, Pilbara, Perth metropolitan) who were referred to the Koorliny Moort program. INTERVENTIONS: Partnerships with primary care providers; nurse-led care coordination; and outreach care by paediatricians, nurses and social workers closer to the home of the child. MAIN OUTCOME MEASURES: Emergency department presentations; hospital admissions; length of hospital stay; non-attended appointments. RESULTS: A total of 942 children were referred to the program. There were significant decreases after referral to the program in the incidence of emergency department presentations (incident rate ratio [IRR], 0.47; 95% CI, 0.43-0.53; P < 0.001), of hospitalisation (IRR, 0.70; 95% CI, 0.62-0.79; P < 0.001), and of non-attended appointments (IRR, 0.83; 95% CI, 0.74-0.94; P < 0.001), as well as in the mean length of hospital stay (IRR, 0.23; 95% CI, 0.21-0.25; P < 0.001). CONCLUSIONS: Health-seeking behaviour and health outcomes for Aboriginal children can be improved by engaging Aboriginal families in their health care, providing effective communication between health service providers, and delivering a coordinated program of Aboriginal service provider-led care.

Tertiary paediatric refugee health clinic in Western Australia: analysis of the first 1026 children.

AIM: Children account for approximately half of the humanitarian refugees currently resettled in Australia. A multidisciplinary refugee health clinic (RHC) was established at the tertiary paediatric hospital in Western Australia to address burgeoning referrals of refugee children following voluntary post-resettlement health assessment. The aim of this study is to describe the epidemiology of common conditions in resettled paediatric refugees attending a tertiary multidisciplinary RHC. METHODS: Standardised clinical and demographic data were routinely collected during first visit clinical assessment at the RHC. Descriptive analyses of the first 1026 children are presented. RESULTS: One thousand twenty-six refugee children from 475 families and over 30 different ethnicities were described. Nine hundred twenty-seven (90.4%) children were referred following post-resettlement health assessment. Median age was 7.8 years. Common reasons for referral were: vitamin D deficiency (400, 39%), iron deficiency (226, 22%), positive Helicobacter pylori serology (206, 21%), poor appetite (175, 17.1%), and schistosomiasis (170, 16.6%). Comorbidities identified by the RHC included tinea capitis and corporis (297, 28.9%), and dental disease (228, 22.2%). Two-thirds of children (680, 66.3%) had at least one abnormal finding on clinical examination that identified pathologies that were not evident from the history. Three hundred eighty children (37%) were referred to sub-specialty services. CONCLUSIONS: A multidisciplinary paediatric RHC facilitated and strengthened the management of refugee children with multiple and complex health needs. Evidenced-based culturally appropriate methods to identify developmental delay, psychological morbidity and quantify social needs of this vulnerable population remain uncertain. These findings are relevant to the continuing evolution of paediatric refugee health care in Australia and other high income countries.

Care coordination for children with complex care needs significantly reduces hospital utilization.

PURPOSE: The purpose was to evaluate an ambulatory care coordination program for children with complex care needs. DESIGN AND METHODS: A pre- and postcohort evaluation design was implemented to analyze the impact on hospital utilization. RESULTS: Results included a decrease in emergency department presentations (15%, p < .001), hospital admissions (9%, p < .019), and hospital bed days (43%, p < .001). Economic analysis indicated a cost savings of $A 1.9 million per annum. PRACTICE IMPLICATIONS: Hospital utilization is significantly reduced for children with complex care needs through 24/7 care coordination.

A new asthma spacer device to improve compliance in children: a pilot study.

OBJECTIVE: This pilot study was designed to compare the acceptance, ease of use, and effects on compliance between currently used spacer devices and the Funhaler--a new small volume spacer device designed to improve adherence to asthma medication in children. METHODOLOGY: A matched questionnaire-based survey was conducted by two interviews of each caregiver by the same person. A total of 32 children were randomly recruited from seven clinics spanning widely differing socioeconomic and geographical areas of Perth, Western Australia. Preschool children taking regular inhaled asthma medication using an existing low volume spacer device and aged between 1.5 and 6 years, took part in the pilot study. Parents completed two matched questionnaires. The first questionnaire was completed at the beginning of the study and the second after 2 weeks' use of the Funhaler spacer. Data collected related primarily to ease of use of the devices, child and parental compliance, and treatment attitudes. During the study, parents were also called at random on one occasion to ascertain whether they had attempted to medicate their child the previous day. RESULTS: Using the Funhaler incentive spacer device, parents reported significantly more success at medicating their children (22/30 always successful) in comparison to using their existing spacer device (3/30). Parental adherence to prescribed frequency and the delivery technique of children were also improved. The children also showed improved satisfaction and willingness to use the device and parents' attitude towards medicating their children was improved with the Funhaler spacer device. CONCLUSIONS: Use of a novel, incentive spacer device (Funhaler) appeared to be associated with increased success and fewer problems in medicating children, improved child and parental adherence, and a more positive attitude towards treatment, suggesting that more extensive long-term efficacy trials with the device are warranted.

Perinatal factors and the development of autism: a population study.

BACKGROUND: Autism is considered to have a genetic basis, although exposure to certain stimuli in the prenatal period has been implicated to be causal in some cases. Some investigations have shown an association with obstetric complications but findings have been inconsistent owing to differences in sampling and methods. OBJECTIVE: To examine the association of obstetric factors with autism spectrum disorders for a cohort of children, using obstetric data contained in a statutory database collected at the time of birth. DESIGN: Subjects born in Western Australia between 1980 and 1995 and diagnosed with an autism spectrum disorder by 1999 were included as cases (n = 465). Siblings of the cases (n = 481) and a random population-based control group (n = 1313) were compared with the cases on obstetric information contained in the Maternal and Child Health Research Database of Western Australia. RESULTS: Compared with control subjects, cases had significantly older parents and were more likely to be firstborn. Case mothers had greater frequencies of threatened abortion, epidural caudal anesthesia use, labor induction, and a labor duration of less than 1 hour. Cases were more likely to have experienced fetal distress, been delivered by an elective or emergency cesarean section, and had an Apgar score of less than 6 at 1 minute. Cases with a diagnosis of autism had more complications than those with pervasive developmental disorder not otherwise specified or Asperger syndrome. Nonaffected siblings of cases were more similar to cases than control subjects in their profile of complications. CONCLUSIONS: Autism is unlikely to be caused by a single obstetric factor. The increased prevalence of obstetric complications among autism cases is most likely due to the underlying genetic factors or an interaction of these factors with the environment.