International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita

Arthrogryposis multiplex congenita (AMC) has been described and defined in thousands of articles, but the terminology used has been inconsistent in clinical and research communities. A definition of AMC was recently developed using a modified Delphi consensus method involving 25 experts in the field of AMC from 8 countries. Participants included health care professionals, researchers, and individuals with AMC. An annotation of the definition provides more in‐depth explanations of the different sentences of the AMC definition and is useful to complement the proposed definition. The aim of this study was to provide an annotation of the proposed consensus‐based AMC definition. For the annotation process, 17 experts in AMC representing 10 disciplines across 7 countries participated. A paragraph was developed for each sentence of the definition using an iterative process involving multiple authors with varied and complementary expertise, ensuring all points of view were taken into consideration. The annotated definition provides an overview of the different topics related to AMC and is intended for all stakeholders, including youth and adults with AMC, their families, and clinicians and researchers, with the hopes of unifying the understanding of AMC in the international community

Participation in leisure activities among adolescents born extremely preterm

Leisure provides constructive opportunities for adolescents; with benefits ranging from better physical, social and emotional health. Adolescence is an important time when a child gradually takes on new life roles and becomes increasingly independent, preparing for successful transition to adulthood. At least 40% of children born extremely preterm who survive exhibit long-term developmental deficits, which places them at risk for activity limitations and participation restrictions in the home, at school and in the community. Regular active, physical and skill-building activities are especially indicated for youth with greater likelihood for chronic health conditions, such as adolescents born preterm. However, the area of leisure participation in this population has been under-studied. Evaluating whether or not adolescents born preterm are successfully participating in leisure activities is essential in ensuring optimal integration into society and maximising their health. The aim of this thesis was to describe leisure participation in adolescents born extremely preterm and to explore the child and environmental factors associated with leisure participation. Participants consisted of adolescents aged 12-20 years who were born at ≤29 weeks gestational age (extremely preterm) between January 1991 and July 2000 and were eligible at birth for the Neonatal Follow-up Program of the McGill University Health Centre. Whenever possible, a healthy term born sibling (gestational age ≥37 weeks) within 3.5 years of the participant's age and aged 10-21 years was recruited for comparative purposes. Ethical approval for this study was obtained from the Montreal Children's Hospital Research Ethics Board. To participate, informed signed consent and assent were obtained. One hundred and twenty-eight adolescents participated in the cross-sectional study. Leisure participation, which is the primary outcome of this study, was assessed using the Children's Assessment of Participation and Enjoyment and Preferences for Activities of Children. Potential determinants of participation, including child and environmental factors, were ascertained using standardized or formal questionnaires and obtained from the child's medical chart. To describe the level of participation, descriptive statistics were used. Chi-square and t-tests were used to explore participation differences between sex, age groups, motor competence and cognitive ability. Paired t-tests were used to compare participation across sibling pairs. Multiple linear regression models were used to explore potential child and environmental determinants of participation. Adolescents born preterm participated in a range of leisure activities; but intensity of participation was lower in active-physical and skill-based activities when compared to other activity types, and lower than the national recommended guidelines for physical activity. Greater motor competence, higher maternal education, male sex and preference for physical activities were associated with greater involvement in active-physical activities. Families oriented to hobbies, higher maternal education and preference for skill-building activities were positively associated with participation in skill-based activities. Girls preferred social, skill-based and self-improvement activities, whereas boys preferred physical types of activities. The findings of this thesis suggest that leisure activities must be affordable, meet individual skill levels and preferences, and be encouraged by parents if participation is to be promoted in adolescents born preterm. Additionally, offering an array of sex-specific activities with opportunities for mastery motivation may promote healthy activity choices. Health promotion initiatives encouraging leisure participation, as well as specific leisure programs for this population may be helpful in augmenting participation levels in active-physical and skill-based activities.Les loisirs procurent des opportunités positives pour les adolescents, et sont associés avec une meilleure santé physique, sociale et mentale. L'adolescence est une période cruciale pendant laquelle l'enfant adopte graduellement de nouveaux rôles et devient de plus en plus indépendant, le préparant pour une transition vers l'âge adulte. Au moins 40% des enfants nés extrêmement prématurément démontrent des problèmes de développement à long terme. La participation régulière à des activités physiques est surtout indiquée pour les jeunes qui sont à risque pour des maladies chroniques, tel que les adolescents nés extrêmement prématurément. Pourtant, la participation des adolescents nés prématurément n'a pas reçu beaucoup d'attention. C'est en évaluant l'étendue de leur participation que nous pourrons alors optimiser leur intégration sociale et améliorer leur santé. Les buts de cette thèse sont de décrire la participation à des activités de loisirs chez les adolescents nés extrêmement prématurément, et d'explorer les facteurs reliés à l'enfant et à l'environnement qui y sont associés. L'échantillon inclue des adolescents âgés entre 12 et 20 ans avec un âge gestationnel de ≤29 semaines (extrêmement prématurés), nés entre janvier 1991 et juillet 2000 et éligibles à la naissance au programme de suivi néonatal du Centre Universitaire de Santé McGill. Lorsque possible, un frère ou une sœur né à terme en-dedans de 3 ans et demi de l'âge du participant et âgés entre 10 et 21 ans ont été recrutés pour des fins comparatives. Cette étude a reçu l'approbation du comité d'éthique de L'Hôpital de Montréal pour Enfants. Afin de participer, le consentement ainsi que l'assentiment des aidants naturels et des jeunes ont été obtenus. Cette étude transversale inclue 128 participants. Le «Children's Assessment of Participation and Enjoyment and Preferences for Activities of Children» a été utilisé afin de quantifier la participation aux loisirs. Les facteurs reliés à l'enfant et à l'environnement ont été évalués à l'aide d'outils standardisés, de tests formels ou tirés du dossier médical. Afin de décrire le niveau de participation, des statistiques descriptives ont été utilisées. Des tests du χ2 et de Student ont été utilisés afin d'explorer les niveaux de participation selon l'âge, le sexe, et les capacités motrices et cognitives. Afin de comparer la participation entre frères, des tests de Student pairés ont été utilisés. Des modèles de régression linéaire multiples ont été utilisés afin d'explorer les facteurs associés aux loisirs. Les adolescents nés prématurément participent dans une étendue d'activités. Par contre, l'intensité de participation était plus faible dans les activités physiques et dans les activités basées sur les habiletés, comparativement aux autres types d'activités, et moindre que le niveau d'activité physique recommandé par les Directives canadiennes. Une meilleure compétence motrice, un niveau d'éducation maternelle plus élevé, le sexe masculin et une préférence pour les activités physiques étaient associés avec une participation à l'activité physique plus fréquente. Les familles orientées aux loisirs, un niveau d'éducation maternelle plus élevé, et une préférence pour les activités basées sur les habiletés avaient une association positive avec la participation dans ce type d'activité. Les filles préféraient les activités sociales, les activités basées sur les habiletés et les activités de croissance personnelle. Les garçons préféraient les activités physiques. Les résultats de cette thèse suggèrent qu'afin de promouvoir la participation chez les adolescents nés prématurément, les activités de loisir offertes doivent être abordables, en accordance avec les préférences et les capacités individuelles de l'enfant et encouragées par les parents. Afin de stimuler la participation, des programmes de loisirs pour les adolescents nés prématurément ainsi que des initiatives en promotion de la santé doivent être mis en place

What matters to children with lower limb deformities: an international qualitative study guiding the development of a new patient-reported outcome measure

Background: Lower limb deformities include conditions such as leg length discrepancy, lower limb deficiency and associated angular and rotational deformities of the hips, knees, ankles and feet. Children with lower limb deformities often have physical limitations due to gait irregularities and pain. The differences in the appearance and function of their lower limbs can discourage participation in social, recreational and leisure activities, which may result in behavioural, emotional, psychological and social adjustment problems. The health-related quality of life (HRQL) of these children is often impacted due to the factors discussed above, as well as by the complex surgical procedures. Surgical treatment options for limb deformities in children vary from limb lengthening and reconstruction to amputation. The lack of evidence demonstrating superiority of either treatment options and their effect on HRQL limits the ability of healthcare providers to counsel families on the best evidence-based treatment option for them. This manuscript describes the international qualitative study which guided the development of a new patient-reported outcome measure (PROM). Individual semi-structured face-to-face interviews with children with lower limb deformities and their parents were conducted at five sites: Canada (2 sites), Ethiopia, India and the USA. Results: Seventy-nine interviews were conducted at five international sites. Five main themes emerged from the qualitative interviews and formed the basis of the conceptual framework. These themes were: 1) appearance, 2) physical health, 3) psychological health 4) school and 5) social health. Conclusions: Lower limb deformities have a substantial impact on the HRQL of children. The concepts of interest identified in our study were similar across children from all countries. The conceptual framework guided the development of outcome scales specific to these patients. The information about the impact of various treatment options on the HRQL of children with lower limb deformities, collected using this new PROM, could be used to inform parents and children about outcomes (physical, social, psychological) associated with specific treatment options. This information could supplement other objective outcome information (e.g., complication rates, how the leg will look, etc.) to help families to come to a more informed decision on a child’s course of treatment.Applied Science, Faculty ofMedicine, Faculty ofOther UBCNon UBCExperimental Medicine, Division ofMedicine, Department ofNursing, School ofOrthopaedic Surgery, Department ofPopulation and Public Health (SPPH), School ofReviewedFacult

The psychosocial experience of individuals living with osteogenesis imperfecta: a mixed-methods systematic review

Osteogenesis imperfecta (OI) is a genetic disorder (prevalence: 1:10,000), leading to bone fragility, frequent fractures, and varying degrees of physical limitations. Despite a substantial amount of research on the genetics, pathophysiology, and treatments related to OI, there remains a paucity of knowledge concerning the lived psychosocial experience of the OI population. This mixed-methods systematic review aimed to review, appraise, and synthesize the literature on the psychosocial experience of children and adults with OI with the goal of identifying implications for research, practice, and policy-making. Using a systematic methodology, quantitative, qualitative, and mixed-methods studies were accessed through database searching, screened, assessed for eligibility, and appraised. Data from the selected studies fulfilling the eligibility and quality criteria were extracted and synthesized using thematic analysis with an inductive approach. A total of four qualitative and 20 quantitative studies, with various study designs and methodologies ranging in quality, were included in the review (n = 800comprising 610 children and 175 adults with OI types I, III, IV, and V, ten parents and five healthcare professionals). Six themes were identified: intellectual feats, isolation and feeling different, fear of fractures, coping with challenges, adapting by learning new skills, and social relationships. These findings highlighted key aspects of the experiences of children and adults with OI and will be essential for improving the quality and direction of research, tailoring clinical interventions addressing the psychosocial needs and quality of life of individuals with OI, and raising awareness among caregivers, healthcare professionals, administrators, and policy-makers associated with the OI population.Newton FoundationTunis ShrinersQuebec Nursing Intervention Research NetworkMcGill Univ, Ingram Sch Nursing, Fac Med, Montreal, PQ H3A 2A7, CanadaShriners Hosp Children Canada, Montreal, PQ, CanadaUniv Fed Sao Paulo, Div Endocrinol, Bone & Mineral Unit, So Paulo, BrazilMcGill Univ, Sch Phys & Occupat Therapy, Fac Med, Montreal, PQ, CanadaCHU Ste Justine, Montreal, PQ, CanadaUniv Montreal, Fac Nursing, Montreal, PQ, CanadaUniv Fed Sao Paulo, Div Endocrinol, Bone & Mineral Unit, So Paulo, BrazilWeb of Scienc

Effectiveness of iPad apps on visual-motor skills among children with special needs between 4y0m–7y11m

<p><b>Aims:</b> The aim of this randomized controlled trial was to assess the effectiveness of interventions using iPad applications compared to traditional occupational therapy on visual-motor integration (VMI) in school-aged children with poor VMI skills.</p> <p><b>Methods:</b> Twenty children aged 4y0m to 7y11m with poor VMI skills were randomly assigned to the experimental group (interventions using iPad apps targeting VMI skills) or control group (traditional occupational therapy intervention sessions targeting VMI skills). The intervention phase consisted of two 40-min sessions per week, over a period of 10 weeks. Participants were required to attend a minimum of 8 and a maximum of 12 sessions. The subjects were tested using the Beery-VMI and the visual-motor subscale of the M-FUN, at baseline and follow-up.</p> <p><b>Results:</b> Results from a 2-way mixed design ANOVA yielded significant results for the main effect of time for the M-FUN total raw score, as well as in the subscales Amazing Mazes, Hidden Forks, Go Fishing and VM Behavior. However, gains did not differ between intervention types over time. No significant results were found for the Beery-VMI.</p> <p><b>Conclusions:</b> This study supports the need for further research into the use of iPads for the development of VMI skills in the pediatric population.Implications for Rehabilitation</p><p>This is the first study to look at the use of iPads with school-aged children with poor visual-motor skills.</p><p>There is limited literature related to the use of iPads in pediatric occupational therapy, while they are increasingly being used in practice.</p><p>When compared to the traditional occupational therapy interventions, participants in the iPad intervention appeared to be more interested, engaged and motivated to participate in the therapy sessions.</p><p>Using iPad apps as an adjunct to therapy in intervention could be effective in improving VMI skills over time.</p><p></p> <p>This is the first study to look at the use of iPads with school-aged children with poor visual-motor skills.</p> <p>There is limited literature related to the use of iPads in pediatric occupational therapy, while they are increasingly being used in practice.</p> <p>When compared to the traditional occupational therapy interventions, participants in the iPad intervention appeared to be more interested, engaged and motivated to participate in the therapy sessions.</p> <p>Using iPad apps as an adjunct to therapy in intervention could be effective in improving VMI skills over time.</p

International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita

Arthrogryposis multiplex congenita (AMC) has been described and defined in thousands of articles, but the terminology used has been inconsistent in clinical and research communities. A definition of AMC was recently developed using a modified Delphi consensus method involving 25 experts in the field of AMC from 8 countries. Participants included health care professionals, researchers, and individuals with AMC. An annotation of the definition provides more in‐depth explanations of the different sentences of the AMC definition and is useful to complement the proposed definition. The aim of this study was to provide an annotation of the proposed consensus‐based AMC definition. For the annotation process, 17 experts in AMC representing 10 disciplines across 7 countries participated. A paragraph was developed for each sentence of the definition using an iterative process involving multiple authors with varied and complementary expertise, ensuring all points of view were taken into consideration. The annotated definition provides an overview of the different topics related to AMC and is intended for all stakeholders, including youth and adults with AMC, their families, and clinicians and researchers, with the hopes of unifying the understanding of AMC in the international community