Follow-up echocardiographic changes in children and youth aged <25 years with latent rheumatic heart disease: A systematic review and meta-analysis of global data.

OBJECTIVES: To estimate progression, regression and persistence rates for borderline and mild-definite latent RHD in children and youth diagnosed at age < 25 years. METHODS: A review was conducted in accordance with Preferred Reporting Items for Systematic reviews and Meta-Analysis guidelines. Electronic databases were searched for latent RHD echocardiography follow-up studies which used World Heart Federation diagnostic criteria. A meta-analysis of outcomes was conducted for borderline and mild-definite disease subcategories. RESULTS: Data for 1618 individuals from 12 studies were included. For borderline cases, 48.51% regressed (95%CI 45.10-51.93), 13.99% progressed (95%CI 9.72-18.25), and 38.61% had persistent (unchanged) disease at follow-up (95%CI 29.68-47.54). For mild-definite cases, 34.01% regressed (95%CI 28.88-39.15), 8.06% progressed (95%CI 3.65-16.90), and 60.23% had persistent disease (95%CI 55.08-67.38). CONCLUSIONS: Borderline and mild-definite latent RHD show variable evolution following initial diagnosis. While 8% of mild-definite and 14% borderline cases had signs of disease progression at follow-up, a third of mild-definite and half of borderline cases had disease regression, even with sub adequate antibiotic prophylaxis. The significant variability between study cohorts suggests latent RHD natural history is likely variable between different endemic regions globally. Future research is needed to identify those individuals who would most benefit from antibiotic prophylaxis and determine regional natural history of latent RHD.

Exercise testing for children with cystic fibrosis: A systematic review.

BACKGROUND: Exercise testing is routinely used to measure exercise capacity in children with cystic fibrosis (CF). Various tests are available, however the psychometric properties of these measures have not been systematically reviewed for this population. METHOD: A systematic search of electronic databases (PubMed, Web of Science, Medline, CINHAL, Cochrane, and PEDro) was performed to identify papers that: (a) reported original psychometric data, (b) examined a measure of exercise capacity, (c) examined children with CF aged eight to 18 years; and (d) were published in English after 1950. The level of psychometric evidence was evaluated using the COnsensus-based Standards for the selection of health Measurement INstruments (COSMIN) checklist. RESULTS: Searches identified 1025 papers. Forty-six papers were included, covering 15 tests: incremental cardiopulmonary exercise test using a cycle ergometer (CPET(cycle)) or treadmill (CPET(treadmill)), 6 minute walk test (6MWT), modified shuttle test (MST), 3-minute step test (3MST), 2 minute walk test (2MWT), Bratteby walk test, intermittent sprint test, speed ramp test, incremental step test, forward-backwards jump test (FBJT), astride jump test (AJT), motor quotient test, Munich fitness test, and Glittre ADL test. CONCLUSION: There is a plethora of exercise tests available with varying psychometric robustness. The CPET, 6MWT, and MST have fair to good psychometric properties, but each with their clinical advantages and limitations. Thus, a Selection Guide was developed to assist clinicians and researchers in selecting the most appropriate exercise test for various situations.

CyFiT telehealth: protocol for a randomised controlled trial of an online outpatient physiotherapy service for children with cystic fibrosis.

BACKGROUND: Telehealth and telemonitoring is an emerging area of study in people with cystic fibrosis (CF), with the potential of increasing access to care, and minimising infection control risks to patients without compromising their health outcomes. To date, limited evidence is available to support the use of telehealth in paediatric population with CF in a clinical setting. This study aims to investigate the utility of a multimodal telehealth-based outpatient physiotherapy service and assess its effect on quality of life, functional exercise capacity, hospital admission and intravenous antibiotic requirements, lung function, processes of care, participation in activities of daily living, and health economics associated with operating an innovative service. METHOD: This single centre, prospective, parallel, randomised, controlled, non-inferiority trial aims to recruit 110 children with CF between the ages 8 to 18 years of age. Participants will be randomised to the Usual Outpatient Physiotherapy Service group (Usual OPS) or the telehealth intervention group (CyFiT OPS). Quality of life, participation in activity of daily living, functional exercise capacity and patient perception of care will be examined every six months using the Cystic Fibrosis Questionnaire-Revised (CFQ-R), Children's Assessment of Participation and Enjoyment (CAPE), Preferences for Activities of Children (PAC) questionnaire, Modified Shuttle Test-25 (MST25), and Measure of Process of Care (MPOC-20) questionnaire. Physiological measurements collected during routine clinical visits such as spirometry, body weight and height, information will be retrospectively retrieved via a chart review at the end of the study. DISCUSSION: We anticipate that this multi-modal telehealth service will deliver a comparable service to traditional face-to-face models. An alternative to existing outpatient physiotherapy services may potentially increase patient options for access to care and patient-orientated outcomes such as quality of life. If deemed appropriate, the new model of care can be integrated into clinical practice immediately. TRIAL REGISTRATION: This trial is registered with the Australian and New Zealand Clinical Trial Registry ( ACTRN12617001035314 ) last updated 17th July 2018.

SPORTS STARS study protocol: a randomised, controlled trial of the effectiveness of a physiotherapist-led modified sport intervention for ambulant school-aged children with cerebral palsy.

BACKGROUND: Modified sport interventions run by physiotherapists have shown potential as cost-effective, engaging, and effective interventions to improve gross motor skills and support transition to real-world sports participation for children with cerebral palsy. At present, this population demonstrates decreased participation in physical activities and sport compared to peers due to barriers ranging from body function to accessibility challenges. Sport provides culturally relevant opportunities for social integration, community participation and physical activity and has been shown to improve the fitness, self-esteem, confidence and quality of life of children with disabilities. The Sports Stars physiotherapy group has been designed to support the development of a range of fundamental movement and sports skills through activity skill practice and participation in modified popular Australian sports. METHODS: This randomised, waitlist controlled, assessor blinded, superiority trial with two parallel groups will aim to compare the effectiveness of Sports Stars to standard care across all ICF domains. Children in the Sports Stars group are expected to demonstrate greater improvement in their individually-selected, sports related goals measured by the Canadian Occupational Performance Measure. This study will aim to assess sixty ambulant children aged six to 12 years with a diagnosis of cerebral palsy. Children will be excluded if they have had recent Botox or neurological/orthopaedic surgery. The Sports Stars intervention includes eight, one-hour, weekly physiotherapy group sessions with four to six participants and one lead physiotherapist. Outcome measures will be collected pre, post and 12 weeks post the immediate Sports Stars group to assess change immediately after, and at follow up time points. DISCUSSION: This will be the first study of its kind to investigate a culturally relevant sports-focussed fundamental movement skills physiotherapy group for ambulant children with cerebral palsy. The findings will add to a growing pool of evidence supporting group physiotherapy for children with cerebral palsy and the Sports Stars group will provide an avenue for children to transition from individual physiotherapy to mainstream and modified recreational and competitive sports. TRIAL REGISTRATION: Australian New Zealand Clinical Trials Registry: ACTRN12617000313336 Registered 28, February 2017. WHO Universal Trial Number: U1111-1189-3355 Registered 1, November 2016.

A Single Session of Mirror-based Tactile and Motor Training Improves Tactile Dysfunction in Children with Unilateral Cerebral Palsy: A Replicated Randomized Controlled Case Series.

INTRODUCTION: This replicated randomized controlled crossover case series investigated the effect of mirror-based tactile and motor training on tactile registration and perception in children with unilateral cerebral palsy (UCP). METHODS: Six children with UCP (6-18 years; median 10 years, five male, three-left hemiplegia, four-manual ability classification system (MACS) I, one MACS II and one MACS III) participated. They attended two 90-minute sessions - one of mirror-based training and one of standard practice, bimanual therapy - in alternated order. Tactile registration (Semmes Weinstein Monofilaments) and perception (double simultaneous or single-point localization) were assessed before and after each session. Change was estimated using reliable change index (RCI). RESULTS: Tactile perception improved in four participants (RCI > 1.75), with mirror-based training, but was unchanged with bimanual therapy (RCI < 1.0 for all participants). Neither intervention affected tactile registration. DISCUSSION: Mirror-based training demonstrates potential to improve tactile perception in children with UCP. Copyright © 2016 John Wiley & Sons, Ltd.

A gender-based approach to developing a healthy lifestyle and healthy weight intervention for diverse Utah women.

Utah women from some cultural minority groups have higher overweight/obesity rates than the overall population. We utilized a gender-based mixed methods approach to learn about the underlying social, cultural and gender issues that contribute to the increased obesity risk among these women and to inform intervention development. A literature review and analysis of Utah's Behavioral Risk Factor Surveillance System data informed the development of a focus group guide. Focus groups were conducted with five groups of women: African immigrants from Burundi and Rwanda, African Americans, American Indians/Alaskan Natives, Hispanics/Latinas, and Pacific Islanders. Six common themes emerged: (1) health is multidimensional and interventions must address health in this manner; (2) limited resources and time influence health behaviors; (3) norms about healthy weight vary, with certain communities showing more preference to heavier women; (4) women and men have important but different influences on healthy lifestyle practices within households; (5) women have an influential role on the health of families; and (6) opportunities exist within each group to improve health. Seeking insights from these five groups of women helped to identify common and distinct cultural and gender themes related to obesity, which can be used to help elucidate core obesity determinants.

Optimal management of complications associated with achondroplasia.

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.

The effect of height, weight and head circumference on gross motor development in achondroplasia.

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.

Development in children with achondroplasia: a prospective clinical cohort study.

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.

Medical management of children with achondroplasia: evaluation of an Australasian cohort aged 0-5 years.

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.

Measures of self-care independence for children with osteochondrodysplasia: a clinimetric review.

This systematic review evaluates the validity, reliability, and clinical utility of outcome measures used to assess self-care skills among children with congenital musculoskeletal conditions and assesses the applicability of these measures for children with osteochondrodysplasia aged 0-12 years. Electronic databases were searched to identify self-care assessments that addressed the self-care domain as defined by of the International Classification of Function Disability and included children with osteochondrodysplasia. Ten measures were identified and three met the inclusion criteria: the Functional Independence Measure for Children (WeeFIM), the Activities Scale for Kids (ASK), and the Pediatric Evaluation of Disability Inventory (PEDI). Although psychometric data specific to children with osteochondrodysplasia are limited, adequate to excellent reliability and evidence of validity were reported for all three instruments for children with physical disabilities. Further evaluation of psychometric properties of self-care instruments specifically for children with osteochondrodysplasia would be beneficial to help identify instruments that will assist with improved assessment and management.

Functional performance in young Australian children with achondroplasia.

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.

Developmental milestones in infants and young Australasian children with achondroplasia.

BACKGROUND: Achondroplasia, the most common form of chondrodysplasia (inherited skeletal dysplasia), is characterized by a significant delay in the development of communication and motor skills, particularly during the first 2 years. Although some information regarding timing of development for children with achondroplasia is available, no study has evaluated simultaneously the pattern of skill development across multiple key developmental areas. METHOD: This study used a retrospective questionnaire to quantify developmental data on milestone achievement. Twenty families of children with achondroplasia throughout Australia and New Zealand were asked to document age of acquisition for 41 gross motor, fine motor, and communication and feeding milestones. More than one half of the items assessed were milestones identified in the Australian State Government Personal Health Record Books. The results are compared with previously available information regarding development of motor skills by a cohort of American children with achondroplasia. RESULTS: Although the results support previously reported delays in gross motor and communication skill development, fine motor development does not seem to be as delayed as previously suggested. Information on development of self-feeding skills is presented for the first time and occurs later in this group than the typically developing population. We describe 2 distinctive and previously unreported methods of transitioning between static positions commonly used by children with achondroplasia. CONCLUSION: Delays were reported across gross motor and communication and feeding skills but were not observed during development of fine motor skills. Additional information is also offered regarding a variety of unusual movement strategies demonstrated by young children with achondroplasia.