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Background Shoulder pain following stroke leads to poorer quality of life and daily functioning. Whilst many treatment approaches exist, there is currently no systematic overview of the evidence base for these. This review addressed the question "What is the evidence for interventions for treating hemiplegic shoulder pain?" Methods An overview of systematic reviews was performed according to PROSPERO protocol (CRD42020140521). Five electronic databases including Cochrane, MEDLINE, Embase and EmCare were searched to June 2019. Included systematic reviews were those of comparative trials of interventions for hemiplegic shoulder pain in adults, reporting pain outcomes using a validated pain scale. Review quality was assessed with AMSTAR2 and those considered at high risk of bias for four or more items were excluded. The most recent, comprehensive review for each intervention category was included. Outcomes of function and quality of life were also extracted. Results Seven systematic reviews of 11 interventions were included, with varied quality. Reviews showed significant benefits in terms of pain reduction for many interventions including acupuncture (conventional 19 trials, electroacupuncture 5 trials, fire needle 2 trials, warm needle 1 trial and bee venom 3 trials), orthoses (1 trial), botulinum toxin injection (4 trials), electrical stimulation (6 trials) and aromatherapy (1 trial). However, the majority of trials were small, leading to imprecise estimates of effect. Findings were often inconsistent across outcome measures or follow-up times. Outcomes from trials of acupuncture were heterogenous with likely publication bias. Conclusion A number of systematic reviews indicate significant reductions in pain, with a wide range of treatments appearing promising. However, significant limitations mean the clinical importance of these findings are uncertain. Due to complex etiology, practitioners and health systems must consider the range of potential interventions and tailor their approach to individual presentation, guided by their local circumstances, expert opinion and the growing literature base.

Background: Mobile devices provide new opportunities for the prevention of overweight and obesity in children. We aimed to co-create and test an app that provided comprehensible feedback to parents on their child's growth and delivered a suite of age-specific information about nutrition and activity. Methods: A two-phased approach was used to co-create the digital growth tool - See How They Grow - and test its feasibility. Phase one used focus groups and a national online survey to gather requirements and build the app. Phase two involved testing the app over 12-weeks, with parents or carers of children aged ≤ 2-years. All research activities were undertaken exclusively through the app. Participants were recruited using social media and hard copy materials. Findings: Four focus groups and 101 responses to the national survey informed the features and functions to include in the final app. Two hundred and twenty-five participants downloaded the app, resulting in 208 eligible participants. Non-Māori/Non-Pacific (78%) and Māori (14%) had the highest downloads. Fifty-four per cent of participants were parents of children under 6-months. These participants were more likely to regularly use the app than those with children older than 6-months (64% vs 36%, P =0.011). Over half of the participants entered three measures (n=101, 48%). Of those that completed the follow-up survey (n=101, 48%), 72 reported that the app helped them better understand how to interpret growth charts. Interpretation: With minor modifications, the app could be an effective tool to support parents understanding of growth trajectories and what they mean for their children. A larger trial is needed to evaluate if the app can have a measurable impact on increasing knowledge and behaviour, and therefore on preventing childhood overweight and obesity. Funding Statement: This study was funded through a contestable funding round by Cure Kids, the National Science Challenge: a Better Start and Precision Driven Health. The funders had no influence on the design, implementation, interpretation or reporting of the study findings. Declaration of Interests: None. Ethics Approval Statement: The study has Ethics approval from the NZ Auckland University Human Participants Ethics Committee; Co-creation and Development Study Reference 020166, Feasibility Study Reference 022248. All participants gave consent to participate. The feasibility study was registered on the Australia New Zealand Clinical Trial registration (ACTRN12619000905167).

Recently in Environmental Research and Public Health, Helm and colleagues reported on a systematic review of healthcare process mining (HPM) case reports, focusing on the reporting of technical and clinical aspects and discussing standardisation terms in future HCM reports utilising existing ontologies [...]

Early diagnosis of inborn errors of metabolism (IEM)—a large group of congenital disorders—is critical, given that many respond well to targeted therapy. Newborn screening programs successfully capture a proportion of patients enabling early recognition and prompt initiation of therapy. For others, the heterogeneity in clinical presentation often confuses diagnosis with more common conditions. In the absence of family history and following clinical suspicion, the laboratory diagnosis typically begins with broad screening tests to circumscribe specialised metabolite and/or enzyme assays to identify the specific IEM. Confirmation of the biochemical diagnosis is usually achieved by identifying pathogenic genetic variants that will also enable cascade testing for family members. Unsurprisingly, this diagnostic trajectory is too often a protracted and lengthy process resulting in delays in diagnosis and, importantly, therapeutic intervention for these rare conditions is also postponed. Implementation of mass spectrometry technologies coupled with the expanding field of metabolomics is changing the landscape of diagnosing IEM as numerous metabolites, as well as enzymes, can now be measured collectively on a single mass spectrometry-based platform. As the biochemical consequences of impaired metabolism continue to be elucidated, the measurement of secondary metabolites common across groups of IEM will facilitate algorithms to further increase the efficiency of diagnosis.

Autism is an etiologically heterogeneous developmental disorder for which the range of genetic investigations has expanded considerably over the past decade. Introduction of chromosomal microarray (CMA) to clinical practice has expanded the range of conditions which pediatricians are able to detect. This study reviewed the utilization, yield and cost of genetic investigations in a sample of children with pervasive developmental disorders (PDD) in an Australian metropolitan child development service. Six hundred and ninety eight patients with PDD were identified from the clinic population. One hundred and ten (15.7%) of the clinic population had undergone investigation with chromosomal microarray, 140 (20.0%) with karyotype (KT), and 167 (23.9%) with Fragile X testing (FRGX). Twelve (10.9%) CMA findings were reported, of which seven (6.3%) were felt to be the likely cause of the child’s clinical features. Five (3.5%) KT findings were reported, of which four (2.9%) were felt to be the likely cause of the child’s clinical features. Two patients (1.2%) were identified with Fragile X expansions. One fifth of the clinic’s recent PDD population had undergone testing with CMA. CMA appears to have increased the diagnostic yield of the genetic investigation of autism, in line with internationally reported levels. Number needed to test (NNT) and cost per incremental diagnosis, were also in line with internationally reported levels.

Background Pachyonychia congenita (PC) is a rare inherited disorder of keratinization characterised by hypertrophic nail dystrophy, painful palmoplantar blisters, cysts, follicular hyperkeratosis and oral leukokeratosis. It is associated with mutations in five differentiation-specific keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17. Objectives Living with Pachyonychia Congenita can be isolating. The aim of this paper is to document a single patient's experience within a national context. Method We report the case of a 2 year old female with an atypical presentation of PC due to a mutation in KRT6A with severely hypertrophic follicular keratoses, skin fragility, relative sparing of nail hypertrophy on one hand and failure to thrive in early infancy. In collaboration with the International Pachyonychia Congenita Research Registry (IPCRR), a database search was performed using Australian residency and KRT6A mutation as inclusion criteria. The IPCRR database was also searched for a matching KRT6A mutation. Six Australian patients were identified in addition to one patient with an identical mutation residing in the United States. The detailed standardized patient questionnaire data was manually collated and analysed. Results Fingernail hypertrophy and oral leukokeratosis were the most common features. There was no recording of asymmetric distribution in any other Australian patient. Trouble nursing as an infant and follicular hyperkeratosis also occurred in the American patient, however they did not have asymmetric distribution and the oral leukokeratosis appeared later in life. Conclusion This case has unique features. Sharing information can assist patients navigating life with this condition.

To prospectively evaluate the diagnostic and clinical utility of singleton whole-exome sequencing (WES) as a first-tier test in infants with suspected monogenic disease. Singleton WES was performed as a first-tier sequencing test in infants recruited from a single pediatric tertiary center. This occurred in parallel with standard investigations, including single- or multigene panel sequencing when clinically indicated. The diagnosis rate, clinical utility, and impact on management of singleton WES were evaluated. Of 80 enrolled infants, 46 received a molecular genetic diagnosis through singleton WES (57.5%) compared with 11 (13.75%) who underwent standard investigations in the same patient group. Clinical management changed following exome diagnosis in 15 of 46 diagnosed participants (32.6%). Twelve relatives received a genetic diagnosis following cascade testing, and 28 couples were identified as being at high risk of recurrence in future pregnancies. This prospective study provides strong evidence for increased diagnostic and clinical utility of singleton WES as a first-tier sequencing test for infants with a suspected monogenic disorder. Singleton WES outperformed standard care in terms of diagnosis rate and the benefits of a diagnosis, namely, impact on management of the child and clarification of reproductive risks for the extended family in a timely manner. Genet Med 18 11, 1090–1096.

The Mitochondrial tRNALeu (MT-TL1) mutation, m.3243A>G constitutes the commonest identified mitochondrial genome mutation. Characteristically, giving rise to MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes), a phenotypic spectrum associated with this genetic variant is now apparent. We report on the first patient with infantile hemiparesis, without comorbid encephalopathy, attributed to this variant. This further expands the recognized disease spectrum and highlights the need to consider mitochondrial genomic mutations in cases of cryptogenic focal neurological deficit in infancy. The potential for genetic disease modifiers is additionally discussed. usc Refereed/Peer-reviewed

Aim This study aimed to determine the utilisation, yield and cost of screening genetic investigations in a sample of children diagnosed with pervasive developmental disorders (PDD; DSM-IV). The purpose was to inform development of strategies for genetic investigation of children with these disorders. Methods 699 patients with PDD were identified, and genetic investigations evaluated. A sub-group of 219 patients underwent clinical chart audit, and the resulting clinical characteristics evaluated in the context of investigation use and findings. Results 24.8%, 15.9% and 25.1% of the clinic population had undergone investigation with chromosomal microarray (CMA), karyotype (KT) and fragile X testing, respectively. CMA is associated with a cost reduction of $3437 less per diagnosis compared with KT (p = 0.026). Several characteristics were associated with increased odds of a significant CMA finding, most significant of which was comorbid epilepsy (odds ratio 10.4; p Discussion CMA appears to increase the diagnostic yield of screening genetic investigations in PDD. This finding is consistent with what has been seen in other populations internationally. CMA reduces cost per incremental diagnosis with comparison to KT, amongst children with PDD. Epilepsy was found to be a significant predictor of a pathogenic finding on chromosomal microarray.