Development of a Physical Therapy Telehealth Examination Battery for People with Parkinson Disease

Scope: The rapid transition to telehealth following the COVID-19 pandemic raised challenges for remote delivery of physical therapy. One challenge was identifying outcome measures for people with Parkinson Disease (PwP) that could safely be conducted via telehealth. This paper evaluates the feasibility of a telehealth physical therapy examination battery for PwP in early to middle stage of disease progression. Methodology: We reviewed recommended outcome measures from the American Physical Therapy Association’s Academy of Neurologic Physical Therapy (ANPT) Parkinson Evidence Database to Guide Effectiveness (EDGE) document and evaluated their appropriateness for remote administration. A clinical decision tree was created to streamline the examination process, incorporating elements of the ANPT movement analysis of tasks as a movement screen. The examination battery was then conducted on three PwP and evaluated for safety and feasibility. Conclusion: This physical therapy telehealth examination battery provides physical therapists with a method to conduct safe and efficient remote assessments for PwP

No father required? The welfare assessment in the Human Fertilisation and Embryology Act 2008

Of all the changes to the Human Fertilisation and Embryology Act 1990 that were introduced in 2008 by legislation of the same name, foremost to excite media attention and popular controversy was the amendment of the so-called welfare clause. This clause forms part of the licensing conditions which must be met by any clinic before offering those treatment services covered by the legislation. The 2008 Act deleted the statutory requirement that clinicians consider the need for a father of any potential child before offering a woman treatment, substituting for it a requirement that clinicians must henceforth consider the child’s need for “supportive parenting”. In this paper, we first briefly recall the history of the introduction of s 13(5) in the 1990 Act, before going on to track discussion of its amendment through the lengthy reform process that preceded the introduction of the 2008 Act. We then discuss the meaning of the phrase “supportive parenting” with reference to guidance regarding its interpretation offered by the Human Fertilisation and Embryology Authority. While the changes to s 13(5) have been represented as suggesting a major change in the law, we suggest that the reworded section does not represent a significant break from the previous law as it had been interpreted in practice. This raises the question of why it was that an amendment that is likely to make very little difference to clinical practice tended to excite such attention (and with such polarising force). To this end, we locate debates regarding s 13(5) within a broader context of popular anxieties regarding the use of reproductive technologies and, specifically, what they mean for the position of men within the family

Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterized by extreme morbidity and mortality

Background: The molecular genetic basis of pulmonary arterial hypertension (PAH) is heterogeneous, with at least 26 genes displaying putative evidence for disease causality. Heterozygous variants in the ATP13A3 gene were recently identified as a new cause of adult-onset PAH. However, the contribution of ATP13A3 risk alleles to child-onset PAH remains largely unexplored. Methods and results: We report three families with a novel, autosomal recessive form of childhood-onset PAH due to biallelic ATP13A3 variants. Disease onset ranged from birth to 2.5 years and was characterised by high mortality. Using genome sequencing of parent-offspring trios, we identified a homozygous missense variant in one case, which was subsequently confirmed to cosegregate with disease in an affected sibling. Independently, compound heterozygous variants in ATP13A3 were identified in two affected siblings and in an unrelated third family. The variants included three loss of function variants (two frameshift, one nonsense) and two highly conserved missense substitutions located in the catalytic phosphorylation domain. The children were largely refractory to treatment and four died in early childhood. All parents were heterozygous for the variants and asymptomatic. Conclusion: Our findings support biallelic predicted deleterious ATP13A3 variants in autosomal recessive, childhood-onset PAH, indicating likely semidominant dose-dependent inheritance for this gene

The global retinoblastoma outcome study : a prospective, cluster-based analysis of 4064 patients from 149 countries

DATA SHARING : The study data will become available online once all analyses are complete.BACKGROUND : Retinoblastoma is the most common intraocular cancer worldwide. There is some evidence to suggest that major differences exist in treatment outcomes for children with retinoblastoma from different regions, but these differences have not been assessed on a global scale. We aimed to report 3-year outcomes for children with retinoblastoma globally and to investigate factors associated with survival. METHODS : We did a prospective cluster-based analysis of treatment-naive patients with retinoblastoma who were diagnosed between Jan 1, 2017, and Dec 31, 2017, then treated and followed up for 3 years. Patients were recruited from 260 specialised treatment centres worldwide. Data were obtained from participating centres on primary and additional treatments, duration of follow-up, metastasis, eye globe salvage, and survival outcome. We analysed time to death and time to enucleation with Cox regression models. FINDINGS : The cohort included 4064 children from 149 countries. The median age at diagnosis was 23·2 months (IQR 11·0–36·5). Extraocular tumour spread (cT4 of the cTNMH classification) at diagnosis was reported in five (0·8%) of 636 children from high-income countries, 55 (5·4%) of 1027 children from upper-middle-income countries, 342 (19·7%) of 1738 children from lower-middle-income countries, and 196 (42·9%) of 457 children from low-income countries. Enucleation surgery was available for all children and intravenous chemotherapy was available for 4014 (98·8%) of 4064 children. The 3-year survival rate was 99·5% (95% CI 98·8–100·0) for children from high-income countries, 91·2% (89·5–93·0) for children from upper-middle-income countries, 80·3% (78·3–82·3) for children from lower-middle-income countries, and 57·3% (52·1-63·0) for children from low-income countries. On analysis, independent factors for worse survival were residence in low-income countries compared to high-income countries (hazard ratio 16·67; 95% CI 4·76–50·00), cT4 advanced tumour compared to cT1 (8·98; 4·44–18·18), and older age at diagnosis in children up to 3 years (1·38 per year; 1·23–1·56). For children aged 3–7 years, the mortality risk decreased slightly (p=0·0104 for the change in slope). INTERPRETATION : This study, estimated to include approximately half of all new retinoblastoma cases worldwide in 2017, shows profound inequity in survival of children depending on the national income level of their country of residence. In high-income countries, death from retinoblastoma is rare, whereas in low-income countries estimated 3-year survival is just over 50%. Although essential treatments are available in nearly all countries, early diagnosis and treatment in low-income countries are key to improving survival outcomes.The Queen Elizabeth Diamond Jubilee Trust and the Wellcome Trust.https://www.thelancet.com/journals/langlo/homeam2023Paediatrics and Child Healt

Dual Task Performance and Prioritization in Parkinson’S Disease and Healthy Elderly Individuals: Analysis of a Novel Assessment with Increasing Complexity

Background. The Clinch Token Transfer Test (C3t) is a seated assessment combining a bimanual coin transfer and manipulation task with a secondary cognitive task under three levels of complexity. Aims. The six aims of this study were to determine if: 1 & 2) the C3t was a reliable and valid measure of manual dexterity and dual task ability in PwPD; 3 & 6) C3t performance or movement component parameters differed between healthy controls and PwPD and were sensitive to disease severity; 4) baseline assessments were predictors of C3t performance, and 5) DT prioritization differed between the C3t and Timed Up & Go tests. Methods. Thirty-nine participants were selected and placed into three groups: 1) mild PD (Hoehn & Yahr (H&Y)=I) (n=13); 2) mod PD (H&Y=II or III) (n=13); 3) healthy controls (HC) who were age, gender and education matched to mild PD (n=13). During session 1 participants completed a battery of cognitive and motor assessments including the C3t and TUG. PwPD returned for a second C3t assessment. Results. The C3t demonstrated good test re-test reliability for baseline and complex but poor reliability for DT conditions; construct validity as a manual dexterity measure was established with the 9-Hole Peg Test. Significant C3t performance differences were seen between: 1) mod PD and HC on all task conditions; and 3) between mild and mod PD on baseline and complex conditions. Regression analysis indicated hand dexterity and Stroop tests were performance predictors on the less complex C3t tasks. Task prioritization patterns differed between the C3t and TUG dual task conditions. On the C3t, PwPD and HC demonstrated a prioritization pattern of mutual interference while demonstrating varied patterns of cost/benefit on the DT TUG. Movement component analysis revealed time differences in four components between mod PD and HC. Conclusions. The C3t is a reliable and valid manual-dexterity assessment in PwPD. All C3t task scores differentiated between PwPD and HC. Baseline and complex scores were sensitive to disease severity, differentiating between mild PD and mod PD. The C3t DT condition was not found to be reliable requiring further development and additional evaluation prior to implementation

Law’s Vulnerability, and Vulnerability in Law

Vulnerability acts as a touchstone in this issue as we find our contributors reflecting on its intersection with gender and sexuality in different ways. Saeidzadeh draws out the significance of misrecognition in her consideration of responses to transsexuality in Iran, while Doonan highlights the potential pitfalls of relying on situational vulnerability in her critique of anti-trafficking legal discourse in the US. Lindsey considers the legal potential of situational vulnerability as a tool to address the ‘persistent failure to take action against abuse’ in the UK. Durojaye and Oluduro contribute to the recent revitalisation in asking ‘the woman question’ by drawing on African law and literature to flesh out the development of a gender-sensitive, substantive equality approach from the jurisprudence of the African Commission on Human and Peoples’ Rights as it addresses vulnerability to violence. The reviewers continue this international conversation as they address recent contributions on sexuality, family formation and social security