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Purpose: This review aims to assess the impact of pain and limitations across self-care and domestic tasks among adults with disproportionate short statured skeletal dysplasia (SD)., Methods: A systematic search was conducted across six electronic databases without language or year of publication restrictions from the date of inception of each database through to 31 July 2024. Clear inclusion criteria were established before search initiation and quality assessment was performed using the Mixed Methods Appraisal Tool (MMAT)., Results: Eight studies including 1,114 adults (mean age 33.1 years) met the inclusion criteria, demonstrating high methodological quality (MMAT ranging from 80 to 100%). Challenges in self-care and domestic tasks were prevalent among adults with disproportionate short statured SD. Personal hygiene (65.6%, 95% confidence interval (95%CI): 55.3-74.6%), donning/doffing shoes (54.3%, 95%CI: 38.2-70.0%), and reaching objects (20.2%, 95%CI: 16.8-24.1%) were the most prevalent difficulties, generally falling within low-moderate difficulty. Studies consistently identified mild-intensity pain adversely affected adult's abilities to complete daily activities. Due to the significant heterogeneity of included studies, a meta-analysis was not conducted., Conclusions: Adults with disproportionate short statured SD experience challenges in self-care and domestic tasks, alongside a notable trend that suggests a higher prevalence of pain is linked to increased difficulty in completing daily tasks.

Aim: Childhood stroke has an estimated incidence of 2-13 per 100 000 children. Limited consensus exists regarding best practice recommendations for childhood stroke rehabilitation. A retrospective study completed at a tertiary institution identified potential associations between factors including type of stroke, functional presentation, muscle strength and length of stay (LOS)., Methods: A retrospective study of children post-stroke admitted 2014-2019 evaluated factors influencing outcome within inpatient rehabilitation. Exploratory analyses were completed to investigate relationships between variables including LOS, functional change, premorbid comorbidities and muscle strength., Results: Data on 42 episodes of care (42 children: 18 males) following stroke were sourced from 2014 to 2019. Descriptive statistics were calculated for patient demographics, stroke characteristics, surgical treatment, premorbid comorbidities and muscle strength. Differences in WeeFIM scores between admission and discharge from the inpatient rehabilitation unit were tested using paired t tests. A higher number of children sustained ischaemic stroke (AIS, n = 24) when compared with haemorrhagic stroke (HS, n = 16). The average proportion of rehabilitation LOS to total hospital stay across all stroke types was 54.5%. Assessment of function demonstrated significant improvement between admission and discharge scores across all WeeFIM domains. Presence of comorbidities across stroke survivors was correlated with lower functional levels at discharge despite similar rehabilitation LOS., Conclusion: Limited consensus exists guiding paediatric rehabilitation post-childhood stroke. This paper provides preliminary data on a cohort post-childhood stroke at a tertiary-level inpatient service. Paediatric stroke survivors showed significant functional improvements after inpatient rehabilitation, with the self-care domain showing greater improvements than mobility and cognition domains, respectively., (© 2024 Paediatrics and Child Health Division (The Royal Australasian College of Physicians).)

Individuals with differing forms of skeletal dysplasias (SD) frequently report impaired mobility and symptoms. With the objetive to evaluate mobility and associated symptoms in people with SD at an Argentinian pediatric hospital, using an Argentinian version of the Screening Tool for Everyday Mobility and Symptoms (STEMS), a simple questionnaire that allows clinicians to quickly identify the presence of symptoms associated with mobility in people with SD, while considering different environmental settings and the use of assistive devices, an analytical study of a consecutive sample of patients older than 5 years with SD and their affected relatives was carried out.Diagnosis, comorbidities, socioenvironmental, therapeutic, auxological and mobility variables were recorded. The presence and intensity of symptoms was noted through use of both the STEMS and validated scales. Descriptive, association and correlation analyzes were performed. One hundred and nineteen individuals with SD were enrolled in the study and divided into groups: Osteogenesis Imperfecta (OI, n = 55), Achondroplasia (ACH, n = 36) and Other SD resulting in disproportionate short stature (n = 28). Mobility assistive devices were almost exclusively used by individuals with OI. They were more frequently used by individuals with overweight and obesity, more severe form of the disease and in the outdoor settings. Two thirds (66.4%) of the individuals assessed in this study reported pain, 87.4% reported fatigue, and 58.8% reported both pain and fatigue. The intensity of symptoms was similar between groups and correlated with age and auxological variables. The STEMS was clear, easy and quick to use for identifying presence of pain and fatigue in this population group. The STEMS proved to be a simple and useful tool for evaluating functional mobility and associated symptoms in our population of individuals with SD., (© 2024 Wiley Periodicals LLC.)

Achondroplasia is the most common form of skeletal dysplasia. In addition to altered growth, children and young people with achondroplasia may experience medical complications, develop and function differently to others and require psychosocial support. International, European and American consensus guidelines have been developed for the management of achondroplasia. The Australian focused guidelines presented here are designed to complement those existing guidelines. They aim to provide core care recommendations for families and clinicians, consolidate key resources for the management of children with achondroplasia, facilitate communication between specialist, local teams and families and support delivery of high-quality care regardless of setting and geographical location. The guidelines include a series of consensus statements, developed using a modified Delphi process. These statements are supported by the best available evidence assessed using the National Health and Medicine Research Council's criteria for Level of Evidence and their Grading of Recommendations Assessment, Development and Evaluation (GRADE). Additionally, age specific guides are presented that focus on the key domains of growth, medical, development, psychosocial and community. The guidelines are intended for use by health professionals and children and young people with achondroplasia and their families living in Australia., (© 2023 The Authors. Journal of Paediatrics and Child Health published by John Wiley & Sons Australia, Ltd on behalf of Paediatrics and Child Health Division (The Royal Australasian College of Physicians).)

Purpose: Achondroplasia (ACH) is the most common form of skeletal dysplasia, resulting in disproportionate short stature and medical complications. We review the literature on physical functioning, psychosocial function, and quality of life (QoL) in ACH individuals compared to average stature individuals or other short stature conditions. Studies that assess the association between these outcomes and height, limb length/lengthening surgery in ACH patients are also summarized., Materials and Methods: PubMed/MEDLINE and Embase were searched through April 2021. Study inclusion criteria were: (1) quantitative design; (2) study population consisting solely/mainly of ACH patients; (3) reports of physical functioning, psychosocial functioning, and/or QoL. Included studies were summarized separately for pediatric and adult populations., Results: Of 1664 records identified, 23 primary studies (sample size 8-437 participants) were included. Multiple tools were used across studies, including the generic PedsQL and SF-36 and height-specific QoLISSY., Conclusions: The literature demonstrates that ACH patients experience limitations in physical functioning and poorer QoL outcomes compared to average stature people across the life span. This appeared to be at least in part due to disproportionate short stature. Future research to better characterize QoL in ACH patients will assist clinicians to better evaluate the effectiveness of management programs including novel interventions.IMPLICATIONS FOR REHABILITATIONPatients with achondroplasia experience limitations in physical functioning and poorer quality of life throughout their life course when compared to average statured individuals.Psychosocial issues are also heightened in adults with achondroplasia compared to average statured peers but are observed less frequently in children and adolescents with achondroplasia.The overall impact that limb lengthening has on physical functioning and QoL remains unclear, although there is some evidence that greater height or upper limb length may lead to an improvement in these parameters.Rehabilitation professionals should regularly assess physical functioning, psychosocial wellbeing, and quality of life in individuals with achondroplasia using condition-specific tools.

Background: Skeletal dysplasia are genetic disorders of cartilage and bone, characterized by impairments commonly resulting in short stature, altered movement biomechanics, pain, fatigue and reduced functional performance. While current tools quantify functional mobility performance, they have not been standardly used in this population group and do not capture patient-reported symptoms such as pain or fatigue. This study evaluated a new tool, the Screening Tool for Everyday Mobility and Symptoms (STEMS), designed to accurately and objectively assess functional mobility and associated symptomology for individuals with skeletal dysplasia., Methods: Individuals aged 5-75 years with a skeletal dysplasia completed the STEMS, the Functional Mobility Scale (FMS) and Six Minute Walk Test (6MWT). The correlation among the STEMS, use of mobility aides, FMS and 6MWT normalised for leg length was calculated. One-way analysis of variance compared the STEMS symptomatology to normalised 6MWT distance., Results: One hundred and fifty individuals with skeletal dysplasia (76 achondroplasia, 42 osteogenesis imperfecta, 32 other; 74 < 18 years, 76 ≥ 18 years) participated. Almost two thirds of the group reported pain and/or fatigue when mobilising at home, at work or school and within the community, but only twenty percent recorded use of a mobility device. The STEMS setting category demonstrated highly significant correlations with the corresponding FMS category (r = - 0.983 to - 0.0994, all p < 0.001), and a low significant correlation with the normalised 6MWT distance (r = - 0.323 to - 0.394, all p < 0.001). A decreased normalised 6MWT distance was recorded for individuals who reported symptoms of pain and/or fatigue when mobilising at home or at work/school (all p ≤ 0.004). Those who reported pain only when mobilising in the community had a normal 6MWT distance (p = 0.43-0.46)., Conclusions: The Screening Tool for Everyday Mobility and Symptoms (STEMS) is a useful new tool to identify and record mobility aide use and associated self-reported symptoms across three environmental settings for adults and children with skeletal dysplasia. The STEMS may assist clinicians to monitor individuals for changes in functional mobility and symptoms over time, identify individuals who are functioning poorly compared to peers and need further assessment, and to measure effectiveness of treatment interventions in both clinical and research settings.

Purpose: This study provides data from a paediatric tertiary hospital on the length of stay, functional improvement and allied health workload for children and adolescents on active inpatient rehabilitation programs., Methods: An audit was conducted of records of patients managed through an inpatient rehabilitation program at a 359 bed tertiary children's hospital in Brisbane, Australia between December 2014 and December 2015. Data relating to diagnosis, length of stay, functional change, occasions of allied health service and hours of patient attributable allied health professional time were collected., Results: Data on 94 children and adolescents with a total of 102 rehabilitation episodes of care were sourced. The greatest average length of stay was for the "Stroke" group. The highest average allied health professional contact hours were for the "Brain Dysfunction - Traumatic" group. The greatest average functional change was observed in the "Brain Dysfunction- Traumatic group." Physiotherapy accounted for the largest proportion of allied health professional service time, with an average of 32% of total time., Conclusions: This review from a tertiary hospital-based inpatient paediatric rehabilitation service provides information regarding the length of stay, functional change and allied health workload for children and adolescents on active inpatient rehabilitation programs. As expected, total and rehabilitation episode length of stay, functional improvement and allied health contact and input varied according to diagnostic groups. This information is likely to be of value to other Paediatric Rehabilitation Medicine inpatient units when developing staffing for services and benchmarking service delivery. Implications for Rehabilitation Paediatric Rehabilitation Medicine supports children and adolescents to achieve the highest level possible of physical, cognitive, psychological and social functioning following accident or injury. There are little data in the literature to inform the optimal allied health staffing levels required for intensive inpatient multidisciplinary for children and adolescents suffering acquired neurological impairments. Data from this tertiary hospital-based paediatric inpatient rehabilitation program provide information on the length of stay, functional improvement and allied health professional contact for patients across broad diagnostic groupings. This information is useful for other paediatric rehabilitation services when planning for allied health staffing in service development.

Herpes simplex virus 1 (HSV-1) and HSV-2 remain major human pathogens despite the development of anti-HSV therapeutics as some of the first antiviral drugs. Current therapies are incompletely effective and frequently drive the evolution of drug-resistant mutants. We recently determined that certain natural troponoid compounds such as β-thujaplicinol readily suppress HSV-1 and HSV-2 replication. Here, we screened 26 synthetic α-hydroxytropolones with the goals of determining a preliminary structure-activity relationship for the α-hydroxytropolone pharmacophore and providing a starting point for future optimization studies. Twenty-five compounds inhibited HSV-1 and HSV-2 replication at 50 μM, and 10 compounds inhibited HSV-1 and HSV-2 at 5 μM, with similar inhibition patterns and potencies against both viruses being observed. The two most powerful inhibitors shared a common biphenyl side chain, were capable of inhibiting HSV-1 and HSV-2 with a 50% effective concentration (EC50) of 81 to 210 nM, and also strongly inhibited acyclovir-resistant mutants. Moderate to low cytotoxicity was observed for all compounds (50% cytotoxic concentration [CC50] of 50 to >100 μM). Therapeutic indexes ranged from >170 to >1,200. These data indicate that troponoids and specifically α-hydroxytropolones are a promising lead scaffold for development as anti-HSV drugs provided that toxicity can be further minimized. Troponoid drugs are envisioned to be employed alone or in combination with existing nucleos(t)ide analogs to suppress HSV replication far enough to prevent viral shedding and to limit the development of or treat nucleos(t)ide analog-resistant mutants., (Copyright © 2016, American Society for Microbiology. All Rights Reserved.)

In this paper, we consider the physical mechanism for the clustering of inertial particles in the inertial range of isotropic turbulence. We analyze the exact, but unclosed, equation governing the radial distribution function (RDF) and compare the mechanisms it describes for clustering in the dissipation and inertial ranges. We demonstrate that in the limit Str≪1, where Str is the Stokes number based on the eddy turnover time scale at separation r, the clustering in the inertial range can be understood to be due to the preferential sampling of the coarse-grained fluid velocity gradient tensor at that scale. When Str≳O(1) this mechanism gives way to a nonlocal clustering mechanism. These findings reveal that the clustering mechanisms in the inertial range are analogous to the mechanisms that we identified for the dissipation regime [see New J. Phys. 16, 055013 (2014)]. Further, we discuss the similarities and differences between the clustering mechanisms we identify in the inertial range and the "sweep-stick" mechanism developed by Coleman and Vassilicos [Phys. Fluids 21, 113301 (2009)]. We show that the idea that initial particles are swept along with acceleration stagnation points is only approximately true because there always exists a finite difference between the velocity of the acceleration stagnation points and the local fluid velocity. This relative velocity is sufficient to allow particles to traverse the average distance between the stagnation points within the correlation time scale of the acceleration field. We also show that the stick part of the mechanism is only valid for Str≪1 in the inertial range. We emphasize that our clustering mechanism provides the more fundamental explanation since it, unlike the sweep-stick mechanism, is able to explain clustering in arbitrary spatially correlated velocity fields. We then consider the closed, model equation for the RDF given in Zaichik and Alipchenkov [Phys. Fluids 19, 113308 (2007)] and use this, together with the results from our analysis, to predict the analytic form of the RDF in the inertial range for Str1, which, unlike that in the dissipation range, is not scale invariant. The results are in good agreement with direct numerical simulations, provided the separations are well within the inertial range.

Achondroplasia is the most common form of skeletal dysplasia, resulting in disproportionate short stature, and affects over 250,000 people worldwide. Individuals with achondroplasia demonstrate a number of well-recognized anatomical features that impact on growth and development, with a complex array of medical issues that are best managed through a multidisciplinary team approach. The complexity of this presentation, whereby individual impairments may impact upon multiple activity and participation areas, requires consideration and discussion under a broad framework to gain a more thorough understanding of the experience of this condition for individuals with achondroplasia. This paper examines the general literature and research evidence on the medical and health aspects of individuals with achondroplasia and presents a pictorial model of achondroplasia based on The International Classification of Functioning, Disability, and Health (ICF). An expanded model of the ICF will be used to review and present the current literature pertaining to the musculoskeletal, neurological, cardiorespiratory, and ear, nose, and throat impairments and complications across the lifespan, with discussion on the impact of these impairments upon activity and participation performance. Further research is required to fully identify factors influencing participation and to help develop strategies to address these factors.

Purpose: This study aimed to investigate whether height, weight, head circumference and/or relationships between these factors are associated with gross motor milestone acquisition in children with achondroplasia., Method: Population-based data regarding timing of major gross motor milestones up to 5 years were correlated with height, weight and head circumference at birth and 12 months in 48 children with achondroplasia born in Australia and New Zealand between 2000 and 2009., Results: Although as a group children with achondroplasia showed delayed gross motor skill acquisition, within group differences in height, weight or head circumference did not appear to influence timing of gross motor skills before 5 years. The exception was lie to sit transitioning, which appears likely to occur earlier if the child is taller and heavier at 12 months, and later if the child has significant head-to-body disproportion., Conclusions: This is the first study to investigate the relationship between common musculoskeletal impairments associated with achondroplasia and timing of gross motor achievement. Identification of the musculoskeletal factors that exacerbate delays in transitioning from lying to sitting will assist clinicians to provide more proactive assessment, advice and intervention regarding motor skill acquisition for this population., (© 2013 The Authors. Journal of Paediatrics and Child Health © 2013 Paediatrics and Child Health Division (Royal Australasian College of Physicians).)

Aim: Achondroplasia is characterized by delays in the development of communication and motor skills. While previously reported developmental profiles exist across gross motor, fine motor, feeding, and communication skills, there has been no prospective study of development across multiple areas simultaneously., Method: This Australasian population-based study utilized a prospective questionnaire to quantify developmental data for skills in children born from 2000 to 2009. Forty-eight families from Australia and New Zealand were asked to report every 3 months on their child's attainment of 41 milestones. Results include reference to previously available prospective information., Results: Information from questionnaires was used to develop an achondroplasia-specific developmental recording form. The 25th, 50th, 75th, and 90th centiles were plotted to offer clear guidelines for development across gross motor, fine motor, feeding, and communication skills in children with achondroplasia., Interpretations: Consistent with results from previous research, children with achondroplasia are delayed in development of gross motor and ambulatory skills. Young children with achondroplasia demonstrate a number of unique movement strategies that appear compensatory for the biomechanical changes. While delays were seen in development of later communication items, there were fewer delays seen across development of early communication, fine motor, and feeding skills., (© The Authors. Developmental Medicine & Child Neurology © 2012 Mac Keith Press.)

Aims: Achondroplasia is the most common form of osteochondrodysplasia and is associated with a number of life-threatening complications. The complexity of the condition led to the development of Heath Supervision Guidelines published by the American Academy of Pediatrics in 1995 and revised in 2005. There remains limited population-based information on utilisation of medical and therapy services for children with achondroplasia. Increased information regarding use of these services will assist in future service development., Methods: Data regarding frequency and timing of medical and allied health consultations, investigations and interventions were collected from 53 Australasian families via questionnaire, based on recommendations of the Health Supervision Guidelines, an expert reference group and literature review., Results: Rates varied with age for medical consultations (geneticist, paediatric rehabilitation physician/paediatrician, respiratory physician, orthopaedic consultant, neurologist, neurosurgeon), medical investigations (sleep study, magnetic resonance imaging/computed tomography), operative procedures (brain-stem decompression, tonsillectomy/adenoidectomy, shunt insertion, shunt revision and insertion of grommets) and allied health consultations (physiotherapist, occupational therapist, speech pathologist, dietician and orthotist)., Conclusions: Access to geneticists and paediatricians within the first year is high as recommended by the 2005 American Academy of Pediatrics guidelines. Utilisation of craniocervical magnetic resonance imaging/computed tomography, polysomnography studies and formal speech review appears low, reflecting more emphasis on clinical monitoring for cervical cord compression and disordered sleep breathing as well as possible difficulties in accessing services for polysomnography and speech pathology. Grommet insertion, tonsillectomy/adenoidectomy and cervicomedullary decompression rates are similar to results reported previously. Over half of the children accessed physiotherapy and/or occupational therapy services, warranting consideration of these professionals in future guideline recommendations., (© 2011 The Authors. Journal of Paediatrics and Child Health © 2011 Paediatrics and Child Health Division (Royal Australasian College of Physicians).)

Aim: The aim of this study was to determine population-specific developmental milestones for independence in self-care, mobility, and social cognitive skills in children with achondroplasia, the most common skeletal dysplasia., Methods: Population-based recruitment from October 2008 to October 2010 identified 44 Australian children with achondroplasia aged 3 to 7 years. Consenting parents of 35 children (16 males, 19 females 14 aged 3y; 12 aged 5y; nine aged 7y) reported their child's self-care, mobility, and social cognition function using the Functional Independence Measure for Children (WeeFIM-II) at the ages of 3 (n=14), 5 (n=12), or 7 (n=9) years. Children were excluded from the study if they had an additional neurological or musculoskeletal condition., Results: Functioning improved in children with achondroplasia between the ages of 3 and 5 years, but not subsequently. Milestones in the achondroplasia group were delayed across all ages and domains compared with normative reference data. Children with achondroplasia required greater caregiver assistance for self-care and mobility skills than typically developing children based on normative data. Social cognition appeared to be an area of relative strength., Interpretation: Children up to 7 years of age with achondroplasia show delayed milestone acquisition and a greater need for caregiver assistance for all domains. As functional delays are likely to be related to common musculoskeletal impairments associated with achondroplasia, access to physiotherapists, occupational therapists, and speech and language pathologists skilled in achondroplasia management may assist children and families to become more independent, particularly around the time of starting school., (© The Authors. Developmental Medicine & Child Neurology © 2011 Mac Keith Press.)

SOLTRAN is a flexible computer model for the direct solar beam intensity spectrum at the earth's surface. It has been derived by combining the extra-terrestrial solar spectrum with the atmospheric transmittance spectrum. Application of SOLTRAN to the calculation of the potential efficiency of photovoltaic cells demonstrates the effect of atmospheric absorption bands. These bands prevent unequivocal assignment of optimum energy gap values.