Research platform for children with arthrogryposis multiplex congenita: Findings from the pilot registry.

A pediatric registry for arthrogryposis multiplex congenita (AMC) proposes to advance research by providing the platform to inform the distribution, etiology, and natural history of AMC. The registry was piloted on 40 families of children (mean = 8.25 years, 48% males) presenting with AMC across two hospitals in North America. Data on the child's demographic and newborn variables, mothers' and fathers' demographic variables, lifestyle habits, and medical history were collected using a telephone interview with the primary caregiver and review of medical charts. Mean gestational age was 38 weeks, 97% of children presented with lower extremity deformities, and 74% of neonatal interventions targeted the lower extremity. Newborns spent an average of 14 days in the hospital (range 2-56 days) mostly for diagnostic workup and feeding difficulties. Half (49%) of the sample had internal organ involvement. Genetic testing was done on 48% of the children, including chromosome studies, single gene, whole-exome/genome sequencing, and/or microarray studies. Genetic findings were inconclusive in most. Two-thirds of mothers (67%) reported inconsistently feeling fetal movements. This pilot study contributed to the refinement of participant selection, identification of data source, expansion of data sets, and areas for future exploration prior to the implementation of a multisite AMC pediatric registry.

Establishing normative data for the Functional Dexterity Test in typically developing children aged 3-5 years.

STUDY DESIGN: Cross-sectional. INTRODUCTION: The Functional Dexterity Test (FDT) is a timed pegboard hand dexterity test. Normative data have been developed primarily in adults with some studies in the pediatric population. The present study will complement the existing pediatric data and make the FDT a stronger assessment for use in this population. PURPOSE OF THE STUDY: The primary aim of this study was to collect normative data in typically developing children aged 3-5 years in the Greater Montreal area; the secondary aim was to evaluate the intrarater and interrater reliabilities of the FDT. METHODS: The FDT was administered to typically developing children aged 3-5 years, who were recruited from various geographical locations and socioeconomic status levels across the Greater Montreal area. Descriptive statistics, t-tests, and analysis of variance were used to compare age-gender groups. The intraclass correlation coefficient (ICC) was calculated to determine intrarater and interrater reliabilities. RESULTS: Normative data were collected from 267 children (137 females) from 18 daycares. Statistically significant differences in FDT scores were found across all age bands (P < .01). Total time decreased with increasing age (P < .01). No significant differences were found between genders. The FDT showed excellent interrater (ICC = 0.89-0.98) and intrarater (ICC = 0.83-0.99) reliabilities. CONCLUSIONS: The clear and standardized pediatric instructions, scoring sheet, and normative data table developed in this study provide health care professionals with quick and easy tools to facilitate scoring and clinical interpretation of hand dexterity in preschool-aged children. Future studies should include school-aged children and adolescents from a larger geographic area.

Muscle Function in Osteogenesis Imperfecta Type IV.

Results of previous studies suggest that children and adolescents with osteogenesis imperfecta (OI) type IV have muscle force deficits. However, muscle function remains to be objectively quantified in this population. This study aimed to assess upper and lower extremity muscle function in patients with OI type IV. It was carried out in the outpatient department of a pediatric orthopedic hospital; 27 individuals with OI type IV (7-21 years; 13 males), 27 age- and sex-matched individuals with OI type I, and 27 age- and sex-matched controls. Upper extremity muscle force was assessed with hydraulic hand dynamometry, and lower extremity muscle function (peak force per body weight and peak power per body mass) was measured by mechanography through five tests: multiple two-legged hopping, multiple one-legged hopping, single two-legged jump, chair-rise test, and heel-rise test. Upper-limb grip force was normal for patients with OI type IV when compared to height and sex reference data (average z-score = 0.17 ± 1.30; P = 0.88). Compared to age- and sex-matched controls, patients with OI type IV had approximately 30% lower-limb peak force and 50% peak power deficits (P values <0.05). At the lower-limb level, they had a 50% lower peak power than age- and sex-matched patients with OI type I (P < 0.05). Patients with OI type IV have normal upper-limb muscle force but a muscle function deficit at the lower-limb level. These results suggest that lower-limb muscle weakness may contribute to functional deficits in these individuals.

Assessments used to diagnose developmental coordination disorder: do their underlying constructs match the diagnostic criteria?

This study examined the constructs underlying the Movement Assessment Battery for Children-2 (M-ABC-2), Bruninks-Oseretsky Test of Motor Proficiency (BOTMP) and Vineland Adaptive Behavior Scale-2 (VABS-2) using the framework of the International Classification of Functioning Disability and Health-Child Youth version (ICF-CY) and the diagnostic criteria of developmental coordination disorder (DCD). Two independent raters coded and matched items to ICF-CY codes as per the eight ICF linking rules developed by Cierza and colleagues. Content density and inter-rater reliability were also calculated. The majority of codes assigned to the M-ABC-2 and BOTMP related to body functions (54% and 64% respectively). For the VABS-2, 91% of codes pertained to activities and participation. The M-ABC-2, BOTMP, and the VABS-2 emphasize the ICF-CY constructs differently. The VABS-2 may be useful in the evaluation of performance of daily life activities and participation in children with DCD.

Epidemiology, aetiology, interventions and genomics in children with arthrogryposis multiplex congenita: protocol for a multisite registry.

INTRODUCTION: Arthrogryposis multiplex congenita (AMC) is an umbrella term including hundreds of conditions with the common clinical manifestation of multiple congenital contractures. AMC affects 1 in 3000 live births and is caused by lack of movement in utero. To understand the long-term needs of individuals diagnosed with a rare condition, it is essential to know the prevalence, aetiology and functional outcomes in a large sample. The development and implementation of a multicentre registry is critical to gather this data. This registry aims to improve health through genetic and outcomes research, and ultimately identify new therapeutic targets and diagnostics for treating children with AMC. METHODS AND ANALYSIS: Participants for the AMC registry will be recruited from seven orthopaedic hospitals in North America. Enrollment occurs in two phases; Part 1 focuses on epidemiology, aetiology and interventions. For this part, retrospective and cross-sectional data will be collected using a combination of patient-reported outcomes and clinical measures. Part 2 focuses on core subset of the study team, including a geneticist and bioinformatician, identifying causative genes and linking the phenotype to genotype via whole genome sequencing to identify genetic variants and correlating these findings with pedigree, photographs and clinical information. Descriptive analyses on the sample of 400 participants and logistic regression models to evaluate relationships between outcomes will be conducted. ETHICS AND DISSEMINATION: Ethical approval has been granted from corresponding governing bodies in North America. Dissemination of findings will occur via traditional platforms (conferences, manuscripts) for the scientific community. Other modalities will be employed to ensure that all stakeholders, including youth, families and patient support groups, may be provided with findings derived from the registry. Ensuring the findings are circulated to a maximum amount of interested parties will ensure that the registry can continue to serve as a platform for hypothesis-driven research and further advancement for AMC.

Predictive validity of Prechtl's Method on the Qualitative Assessment of General Movements: a systematic review of the evidence.

AIM: The aim of this systematic review was to examine the evidence for the predictive validity of Prechtl's Method on the Qualitative Assessment of General Movements (GMsA) with respect to neurodevelopmental outcomes. METHOD: Six electronic databases (PsychINFO, Embase, Health and Psychosocial Instruments, PubMed, and AMED) were searched using the following keywords to identify all studies that examined the predictive validity of the GMsA: 'general movements', 'assessment', 'movement', 'child development', 'infant', and 'predictive value of test'. Only English- and French-language studies were included, whereas studies that focused on spontaneous mobility in preterm infants, but not necessarily the GMsA, or which did not report on the predictive value of the GMsA were excluded. A total of 39 studies were included in the final analysis. RESULTS: Studies were separated according to the age at follow-up: 12 to 23 months, 2 to 3, 4 to 11, and 12 to 18 years. All used a longitudinal cohort study design; however, the outcome measures differed greatly amongst the studies. Values for sensitivity, specificity, positive predictive value, and negative predictive value varied amongst studies. The overall trend indicated that the presence of abnormalities in the quality of fidgety movements at 12 weeks adjusted age is more predictive of adverse outcomes than abnormal writhing movements. INTERPRETATION: The GMsA demonstrates potential as a cost-effective, non-intrusive means of infant examination. However, current studies include important sources of bias. Future methodologically rigorous studies with functional outcomes are suggested.

Feeding interventions for children with cerebral palsy: a review of the evidence.

AIM: To examine the evidence of the effectiveness of different feeding interventions for children with cerebral palsy. METHODS: A search of 12 electronic databases identified all relevant studies. For each study, the quality of the methods was assessed according to the study design. A total of 33 articles were retrieved, and 21 studies were included in the final analysis. RESULTS: Feeding interventions were separated into five main categories: oral sensorimotor facilitation, food consistency, positioning, oral appliances, and adaptive equipment. Five studies were randomized controlled trials. Outcomes were mainly reported on feeding safety and efficiency. One study documented positive results in height and weight change. Nineteen of the 21 studies presented positive outcomes in eating efficiency and/or safety. INTERPRETATION: Feeding interventions demonstrate potential benefits for children with cerebral palsy. However, the current level of evidence is poor, and empirical data are lacking. Methodologically, rigorous studies are required particularly investigating multimodal approaches.

Rehabilitation needs of youth with arthrogryposis multiplex congenita: Perspectives from key stakeholders.

Background: Arthrogryposis multiplex congenita is a term used to describe congenital contractures in at least two body parts with an overall prevalence of 1 in 3000 live births. It is often caused by lack of fetal movement in utero and presents as contractures of varying severity, which may affect the upper and lower extremities, the spine and jaw. Currently, no practice recommendations exist to inform best clinical practice for arthrogryposis multiplex congenita.Purpose: To identify the needs surrounding rehabilitation as experienced by youth with arthrogryposis multiplex congenita, caregivers, and clinicians and to propose solutions to develop family- and client-centred rehabilitation recommendations.Materials and methods: A modified experience-based co-design methodology was used where qualitative interviews were conducted with key stakeholders.Results: Twenty-seven participants completed the interviews and demographic information was collected where early-active rehabilitation began at birth in most cases and became less frequent through adolescence. Three overarching themes were determined for each stakeholder group.Conclusions: All participants reported that early-active rehabilitation is beneficial as it helps determine future treatments. Transition times and participation need to be at the center of interventions to ensure that the needs of youth with arthrogryposis multiplex congenita are being met. The development a condition-specific outcome-measure and rehabilitation practice recommendations will assist clinicians in addressing the needs of youth with arthrogryposis multiplex congenita.Implications for rehabilitationArthrogryposis multiplex congenita presents in at least two different areas of the body as multiple congenital contractures of varying severity which may affect the upper and lower extremities, spine and jaw.Youth with arthrogryposis multiplex congenita identified participation as an essential component of their life, however caregivers and clinicians did not emphasize this need.Gathering information from different stakeholders is important to ensure varying needs are addressed.Rehabilitation was reported to be beneficial from early childhood to late adolescence by youth, caregivers, and clinicians.Frequency of rehabilitation diminished over time, emphasizing the need for continued follow-up into adolescence.

Development of a research platform for children with arthrogryposis multiplex congenita: study protocol for a pilot registry.

INTRODUCTION: Arthrogryposis multiplex congenita (AMC) describes a heterogeneous group of conditions with multiple congenital contractures. These conditions may be attributed to genetic or other factors inducing decreased fetal movements, including maternal and paternal factors. Discovering the underlying genetic pathways has important repercussions for prevention, gene therapy and genetic counselling. The current literature mainly consists of small-scale, single-site studies, limiting comparability and pooling of findings across individual studies. A pilot registry for children presenting with AMC is proposed to provide the framework for a large-scale AMC registry. This registry will provide the platform to support high-quality studies to inform the distribution, clinical practice and genetics contributing to this group of conditions. METHODS AND ANALYSIS: The registry will be piloted on 40 families of children from birth to 21 years of age presenting with AMC. Data will be collected on the child (demographic and newborn variables), mother and father (demographic, lifestyle habits and medical history). To promote standardised data collection, a manual of operations will be developed. Descriptive statistics will be used to summarise relevant data, regression analyses will be used to explore associations to generate hypotheses regarding factors contributing to AMC. Qualitative analysis will also be used to better describe the various phenotypes. ETHICS AND DISSEMINATION: Ethics approval was obtained at the participating sites. The pilot registry will provide the platform for multisite AMC registry that will generate multiple research avenues to enhance current care and establish new therapies. Following this pilot study, the participant selection criteria will be refined and datasets will be expanded to include rehabilitation and surgical interventions, and genetic sequencing. The best timing for the questionnaire administration and frequency of follow-up prior to the implementation of a multisite AMC registry will be determined.

Virtual reality as a therapeutic modality for children with cerebral palsy.

OBJECTIVE: The evidence for using virtual reality (VR) with children with cerebral palsy (CP) was examined. METHODS: A search of 13 electronic databases identified all types of studies examining VR as an intervention for children with CP. The most recent article included was published in October 2008. For each study, the quality of the methods was assessed using the appropriate scale. A total of 19 articles were retrieved. Thirteen studies from 11 articles were included in the final analysis. RESULTS: Outcomes documented brain reorganization/plasticity, motor capacity, visual-perceptual skills, social participation and personal factors. Two studies were randomized controlled trials. These reported conflicting results regarding motor outcomes. Twelve of the 13 studies presented positive outcomes in at least one domain. CONCLUSIONS: VR has potential benefits for children with CP. However, the current level of evidence is poor and empirical data is lacking. Future methodologically rigorous studies are required.