The Human Phenotype Ontology in 2024: phenotypes around the world.

The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs.

Common data elements for arthrogryposis multiplex congenita: An international framework.

AIM: To facilitate multisite studies and international clinical research, this study aimed to identify consensus-based, standardized common data elements (CDEs) for arthrogryposis multiplex congenita (AMC). METHOD: A mixed-methods study comprising of several focus group discussions and three rounds of modified Delphi surveys to achieve consensus using two tiered-rating scales were conducted. RESULTS: Overall, 45 clinical experts and adults with lived experience (including 12 members of an AMC consortium) participated in this study from 11 countries in North America, Europe, and Australia. The CDEs include 321 data elements and 19 standardized measures across various domains from fetal development to adulthood. Data elements pertaining to AMC phenotypic traits were mapped according to the Human Phenotype Ontology. A universal governance structure, local operating protocols, and sustainability plans were identified as the main facilitators, whereas limited capacity for data sharing and the need for a federated informatics infrastructure were the main barriers. INTERPRETATION: Collection of systematic data on AMC using CDEs will allow investigations on etiological pathways, describe epidemiological profile, and establish genotype-phenotype correlations in a standardized manner. The proposed CDEs will facilitate international multidisciplinary collaborations by improving large-scale studies and opportunities for data sharing, knowledge translation, and dissemination.

Health-related quality of life in 205 children with arthrogryposis multiplex congenita.

PURPOSE: Arthrogryposis multiplex congenita (AMC) describes a heterogeneous group of rare congenital conditions. Health-related quality of life (HRQL) may be reduced in AMC due to broadly heterogeneous physical impairments and participation limitations. This study described HRQL in children and youth with AMC, compared HRQL between child self- and parent-proxy reports, and identified factors associated with better/worse HRQL. METHODS: Data on 205 children with AMC (age 8-21 years) from a North American AMC registry across eight hospital sites was used. HRQL was assessed cross-sectionally using the Patient Reported Outcome Measurement Information System (PROMIS) and European Quality of Life-5 Dimensions-Youth-3 Levels (EQ-5D-Y-3 L) by self-report, parent proxy-report or both. RESULTS: Mean child-reported PROMIS T-scores were significantly lower than the normal mean for the Upper Extremity (mean = 33.0) and Mobility (mean = 37.2) but in the normal range for Pain Interference (mean = 46.6) and Peer Relationships (mean = 51.7). A lot of problems in EQ-5D-Y-3 L was reported by 37% in Feeling Worried/ Sad/ Unhappy, 46% in Having Pain/Discomfort, 50% in Doing Usual Activities, 56% in Mobility, and 57% in Looking After Myself. Compared to child-report, parents reported significantly worse PROMIS T-scores and higher problems in EQ-5D domains. Wheelchair use, being small for gestational age, prolonged hospitalization after birth, increased number of orthopedic surgeries, and caregiver's stress were associated with lower HRQL scores. CONCLUSION: Findings indicate the importance of considering both the child's and parents' reports of HRQL, and to provide multimodal interventions that focus on the effect of childhood and parental characteristics to promote HRQL among children with AMC.

Our study describes health aspects of quality of life (HRQL) in a large sample of children with arthrogryposis multiplex congenita (AMC). Information on HRQL is crucial for clinicians treating AMC to improve treatment outcomes, and for individuals with AMC and their families to understand various aspects of life in AMC. Our results showed that most children with AMC have mild to moderate problems in mobility (e.g., getting around, walking), self-care (e.g., taking shower), and doing usual activities. We found that the parents tend to perceive worsened HRQL for the child with AMC. Our findings also showed that children who had low birthweight for gestational age, were hospitalized for prolonged periods as an infant, had multiple orthopedic surgeries, and use a wheelchair are more likely to have lower HRQL. Children who have a parent who expressed high caretaking stress tend to have lower mobility and physical functioning. Our findings will help develop more personalized care plans for children with AMC considering various individual and familial characteristics.

Measurement Repeatability and Reproducibility of Virtual Goniometry of a Set of Acquired Images in Youths with Arthrogryposis Multiplex Congenita.

OBJECTIVES: To evaluate the intra-rater repeatability and the inter-rater reproducibility of using a virtual goniometer to measure upper and lower extremity joint range of motion (ROM) in youths with arthrogryposis multiplex congenita (AMC). METHODS: Youths presenting with AMC aged 8 to 21 years old were recruited. ROM of the upper and lower limbs were assessed remotely during a teleassessment on a video-conferencing platform. Screen captures were taken and ROM were measured by two raters, two-weeks apart, using a virtual goniometer. Intraclass correlation coefficient (ICC) and associated 95% confidence interval (CI) were calculated to assess intra-and inter-rater repeatability and reproducibility. RESULTS: Nine participants were included with a median age of 15.9 years (range: 11.3 to 20.8 years). The overall intra-rater ICC was 0.997 (95% CI:0.996 to 0.997) for the first rater and 0.993 (95% CI:0.992 to 0.994) for the second rater. The inter-rater ICC ranged from 0.410 (95% CI:-0.392; 0.753) for forearm pronation to 0.998 (95% CI:0.996; 0.999) for elbow flexion. CONCLUSIONS: Results of the current study suggest that virtual goniometry is reproducible and repeatable for the ROM of most joints. Future studies should evaluate procedural reliability and validity of the proposed method for youth with complex conditions.

Talectomy for arthrogrypotic foot deformities: A systematic review.

BACKGROUND: Arthrogryposis multiplex congenita (AMC) is one of the most common congenital joint contracture syndromes. Talectomy has been proposed for severe foot deformities in AMC, but the literature is limited. The purpose of this systematic review is to evaluate the indications, outcomes and complications of talectomy in arthrogrypotic foot deformities. METHODS: The articles were found through Embase and Medline. Screening was conducted by two independent investigators with disagreements resolved by a third reviewer. Relevant data regarding demographics, outcomes and complications were collected. RESULTS: Of 232 feet, 71.98 % and 62.22 % had clinical and radiographic improvements respectively. Amongst 122 patients, 92.62 % could ambulate following surgery. Recurrent deformities and revision surgery were seen in 16.81 % and 13.36 % of cases respectively. CONCLUSIONS: Talectomy is a valid surgical option for severe arthrogrypotic foot deformities with favorable post-operative outcomes and low complication rate.

Psychosocial wellbeing among children and adults with arthrogryposis: a scoping review.

BACKGROUND: Arthrogryposis multiplex congenita (AMC) is a group of congenital conditions characterized by joint contractures in two or more body areas. Management of AMC starts early in life and focuses on improving mobility and function through intensive rehabilitation and surgical interventions. Psychosocial wellbeing is an important determinant of health and the psychosocial experience of individuals with AMC should be considered in the management of this condition. The aim of this scoping review was to explore what is known about the psychosocial wellbeing of children and adults with AMC, to identify the outcome measures used and to explore the factors associated with psychosocial outcomes in this population. METHODS: A comprehensive search in four databases was conducted. Articles discussing psychosocial outcomes and outcome measures used with children or adults with AMC were included. Data on the measures used, psychosocial outcomes, and factors associated with psychosocial outcomes, were extracted and analyzed descriptively and synthesized narratively. RESULTS: Seventeen articles were included in this scoping review, ten including the pediatric population, six including adults and one article including both children and adults with AMC. The most commonly used outcome measures were the PODCI in the pediatric studies, and the SF-36 in studies on adults. In the pediatric studies, psychosocial outcomes were often secondary, compared to the studies on adults. Results showed that in both children and adults, psychosocial outcomes are comparable with the levels of the general population. Qualitative studies reflected the affective needs of this population and issues with emotional wellbeing. Factors such as fatigue and pain were associated with poorer psychosocial outcomes in adults with an impact on social relationships, intimacy and family planning. CONCLUSION: Validated outcome measures, qualitative approaches and longitudinal studies are needed to better understand the psychosocial outcomes in AMC over time. Psychosocial support should be part of the multidisciplinary management of AMC throughout the lifespan.

Using Telerehabilitation to Deliver a Home Exercise Program to Youth With Arthrogryposis: Single Cohort Pilot Study.

BACKGROUND: Arthrogryposis multiplex congenita (AMC) is characterized by joint contractures and muscle weakness, which limit daily activities. Youths with AMC require frequent physical therapeutic follow-ups to limit the recurrence of contractures and maintain range of motion (ROM) and muscle strength; however, access to specialized care may be limited because of geographical distance. Telerehabilitation can offer a potential solution for delivering frequent follow-ups for youth with AMC, but research on the use of telerehabilitation in children with musculoskeletal disorders is scarce. OBJECTIVE: The study aims to evaluate the feasibility of delivering a home exercise program (HEP) by using telerehabilitation for youth with AMC. We also aim to explore the effectiveness of the HEP as a secondary aim. METHODS: Youths aged between 8 and 21 years with AMC were recruited at the Shriners Hospitals for Children-Canada. The participants completed baseline and post-HEP questionnaires (the Physical Activity Questionnaire for Adolescents, Pediatrics Outcomes Data Collection Instrument, and Adolescent and Pediatric Pain Tool), and clinicians assessed their active ROM using a virtual goniometer. Clinicians used the Goal Attainment Scale with the participants to identify individualized goals to develop a 12-week HEP and assess the achievement of these goals. Follow-ups were conducted every 3 weeks to adjust the HEP. Data on withdrawal rates and compliance to the HEP and follow-ups were collected to assess the feasibility of this approach. The interrater reliability of using a virtual goniometer was assessed using the intraclass correlation coefficient and associated 95% CI. Nonparametric tests were used to evaluate feasibility and explore the effectiveness of the HEP. RESULTS: Of the 11 youths who were recruited, 7 (median age: 16.9 years) completed the HEP. Of the 47 appointments scheduled, 5 had to be rescheduled in ≤24 hours. The participants performed their HEP 2.04 times per week (95% CI 1.25-4.08) and reported good satisfaction with the approach. A general intraclass correlation coefficient of 0.985 (95% CI 0.980-0.989) was found for the web-based ROM measurement. Individualized goals were related to pain management; endurance in writing, standing, or walking; sports; and daily activities. In total, 12 of the 15 goals set with the participants were achieved. Statistically significant improvements were observed in the pain and comfort domain of the Pediatrics Outcomes Data Collection Instrument (preintervention: median 71; 95% CI 34-100; postintervention: median 85; 95% CI 49-100; P=.08) and Physical Activity Questionnaire for Adolescents (preintervention: median 1.62; 95% CI 1.00-2.82; postintervention: median 2.32; 95% CI 1.00-3.45; P=.046). CONCLUSIONS: The remote delivery of an HEP for youth with AMC is feasible. Promising results were found for the effectiveness of the HEP in helping youths with AMC to achieve their goals. The next step will be to assess the effectiveness of this exercise intervention in a randomized controlled trial. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): RR2-10.2196/18688.

Participation in leisure activities in adolescents with congenital heart defects.

AIM: To describe leisure participation in adolescents with congenital heart defects (CHD) and identify factors associated with intensity of participation. METHOD: Eighty adolescents with CHD were recruited (39 males, 41 females; mean age [SD] 15y 8mo [1y 8mo] range 11y 5mo-19y 11mo) of whom 78 completed the Children's Assessment of Participation and Enjoyment (CAPE) outcome measure of leisure participation. The measure has five subscales: recreational, active-physical, social, skill-based, and self-improvement. Associations between the CAPE and age, sex, and development were examined. Motor ability (Movement Assessment Battery for Children, Second Edition), cognition (Leiter International Performance Scale-Revised), behavior (Strengths and Difficulties Questionnaire), and motivation (Dimensions of Mastery Questionnaire) were assessed. RESULTS: Participants exhibited impaired motor (43.5%), behavioral (23.7%), and cognitive (29.9%) development. The most intense participation was in social (mean [SD] 3.3 [0.99]) and recreational (2.9 [0.80]) activity types on the CAPE. Male sex (p<0.05) and younger age were associated with greater physical activity (<15y: 1.87; ≥15y: 1.31, p<0.05). Greater engagement in social activities was related to better cognition (r=0.28, p<0.05), higher motor function (r=0.30-0.36, p<0.01), and fewer behavioral difficulties (r=-0.32 to -0.47, p<0.01). Cognitive ability (r=0.27, p<0.05), dexterity and aiming/catching (r=0.27-0.33, p<0.05), and behavior problems (r=0.38-0.49, p=0.001) were correlated with physical activity participation. Persistence in tasks, an aspect of motivation, correlated with physical (r=0.45, p<0.001) and social activity involvement (r=0.28, p<0.05). INTERPRETATION: Ongoing developmental impairments in adolescents with CHD are associated with decreased active-physical and social engagement, putting them at risk of poor physical and mental health. Health promotion strategies should be considered. WHAT THIS PAPER ADDS: Adolescents with congenital heart defects (CHD) have limited engagement in active-physical leisure activities. Cognitive, motor, and behavioral impairments are associated with decreased participation in leisure in children with CHD. Female sex and older age are associated with less engagement in leisure. Mastery motivation correlates with participation, suggesting an avenue for intervention.

Participación en actividades recreativas en adolescentes con cardiopatías congénitas OBJETIVO: Describir la participación en el tiempo libre en adolescentes con defectos cardíacos congénitos (CHD) e identificar los factores asociados con la intensidad de la participación. MÉTODO: Ochenta adolescentes con CHD fueron reclutados (39 varones, 41 mujeres; edad media [DE] 15 años 8 meses [1 año 8 meses] rango 11 año 5 meses- 19 año 11 meses) de los cuales 78 completaron la medida de resultado de la Evaluación de la Participación y el Disfrute de los Niños (Children's Assessment of Participation and Enjoyment [CAPE]) del ocio participación. La medida tiene cinco subescalas: recreación, actividad física, social, basada en habilidades y mejoría personal. Se examinaron las asociaciones entre el CAPE y la edad, el sexo y el desarrollo. Se evaluó la capacidad motora con la Batería de Evaluación de Movimiento para Niños (Movement Assessment Battery for Children, Segunda edición), la cognición (Leiter International Performance Scale-Revised), el comportamiento con el Cuestionario de Fortalezas y Dificultades (Strengths and Difficulties Questionnaire) y la motivación usando el cuestionario Dimensiones del Dominio (Dimensions of Mastery Questionnaire). RESULTADOS: Los participantes exhibieron problemas en el desarrollo motor (43.5%), conducta (23.7%) y en el desarrollo cognitivo (29.9%). La participación más intensa fue en los tipos de actividad social (media [DE] 3.3 [0.99]) y recreativa (2.9 [0.80]) en el CAPE. El sexo masculino (p <0.05) y la edad más joven se asociaron con una mayor actividad física (<15 años: 1.87; ≥15 años: 1.31, p <0.05). Una mayor participación en actividades sociales se relacionó con una mejor cognición (r = 0.28, p <0.05), una función motora más alta (r = 0.30-0.36, p <0.01) y menos dificultades en el comportamiento (r = -0.32 a -0.47, p < 0,01). La capacidad cognitiva (r = 0.27, p <0.05), la destreza manual y la habilidad para apuntar y atajar (r = 0.27-0.33, p <0.05) y los problemas de comportamiento (r = 0.38-0.49, p = 0.001) se correlacionaron con la participación en la actividad física. La capacidad de persistir en las tareas, un aspecto de la motivación se correlacionó con la participación física (r = 0.45, p <0.001) y la actividad social (r = 0.28, p <0.05). INTERPRETACIÓN: Los problemas de desarrollo en los adolescentes con CHD están asociados con una disminución de la participación física y social, lo que los pone a riesgo de una pobre salud física y mental. Deben buscarse estrategias para la promoción de la salud de esta población.

Participação em atividades de lazer em adolescentes com defeitos cardíacos congênitos OBJETIVO: Descrever a participação em lazer de adolescentes com defeitos cardíacos congênitos (DCC) e identificar fatores associados com a intensidade de participação. MÉTODO: Oitenta adolescentes com DCC foram recrutados (39 do sexo masculino, 41 do sexo feminino; média de idade [DP] 15a 8m [1a 8m] variação 11a 5m-19a 11m), dos quais 78 completaram a medida de participação em lazer Avaliação da participação e diversão das crianças (APDC). A medida tem cinco subescalas: recreacional, ativa-física, social, baseada em habilidades, e auto-aprimoramento. Associações entre a APDC e idade, sexo e desenvolvimento foram examinadas. A capacidade motora (Bateria de avaliação do movimento para crianças, segunda edição), cognição (Escala internacional de desempenho de Leiter- Revisada), comportamento (Questionário de capacidades e dificuldades), e motivação (Questionário de Dimensões do Domínio) foram avaliados. RESULTADOS: Os participantes exibiram comprometimento do desenvolvimento motor (43,5%), comportamental (23,7%), e cognitivo (29,9%). A participação mais intensa segundo a APDC foi nos tipos social (média [DP] 3,3 [0,99]) e recreacional (2.9 [0,80]). O sexo masculino (p<0,05) e menor idade foram associados com maior nível de atividade física (<15a: 1,87; ≥15a: 1,31, p<0,05). Um maior engajamento em atividades sociais foi relacionado com uma melhor cognição (r=0,28, p<0,05), maior função motora (r=0,30-0,36, p<0,01), e menos dificuldades comportamentais (r=-0,32 a -0,47, p<0,01). A capacidade cognitiva (r=0,27, p<0,05), destreza e mirar/apreender (r=0,27-0,33, p<0,05), e problemas comportamentais (r=0,38-0,49, p=0,001) foram correlacionadas com a participação em atividades físicas. A persistência nas tarefas, um aspecto da motivação, se correlacionou com o envolvimento em atividades físicas (r=0,45, p<0,001) e sociais (r=0,28, p<0,05). INTERPRETAÇÃO: Alterações persistentes do desenvolvimento de adolescentes com DCC são associadas com engajamento ativo-físico e social reduzidos, o que os coloca em risco para sua saúde física e mental. Estratégias de promoção de saúde deveriam ser consideradas.

Participation among Children with Arthrogryposis Multiplex Congenita: A Scoping Review.

AIM: To explore what is currently known regarding participation among children and youth with arthrogryposis multiplex congenita (AMC) using empirical studies, gray literature, and YouTube videos. The secondary objectives included identifying activity types, outcome measures used, interventions provided, and barriers and facilitators to participation. METHOD: Empirical studies and gray literature were searched through electronic databases and videos were searched on YouTube. Articles and videos pertaining to participation and youth with AMC were included by two reviewers. Data regarding activity types, location, outcomes measures, interventions, and barriers and facilitators to participation was extracted. Data was critically appraised using specific evaluation criteria. RESULT: Eleven empirical studies, six gray literature articles and 71 videos met the inclusion criteria. The most common activity types reported in the empirical studies and YouTube videos were active-physical, social, and skill-based activities. Outcome measures included evaluations and questionnaires, none of which were designed to address participation. Interventions did not target participation although the environments could affect participation. CONCLUSION: The paucity of research indicates a need for future studies of participation in this population. Interventions should target participation and address environmental barriers. Videos provide insight for clinicians, youth, and families to help promote participation in the natural environment.

Collaborating to advance interdisciplinary care for individuals with arthrogryposis.

This Special Issue on Interdisciplinary Care in Arthrogryposis highlights a collection of articles spanning topics in interdisciplinary care, genetic discoveries, and clinical research. An international group of clinicians and researchers from various backgrounds who attended the "3rd International Symposium on Arthrogryposis", held in Philadelphia, September 24-26, 2018, were invited to contribute to this issue. The goal of the 2018 Symposium and of this Special Issue is to provide momentum to advancing evidence-based practice and research in arthrogryposis, by working collaboratively with adults and families of children with arthrogryposis, clinicians, and researchers. The contents of this issue cover a range of topics from defining and classifying arthrogryposis multiplex congenita to early detection, rehabilitation, and orthopedic management, advances in genetic pathways, patient registries, autopsy guidelines, and research findings in the pediatric and adult populations with arthrogryposis. We hope that this issue provides an overview as well as new knowledge on arthrogryposis to generate more conversations at the international level, and advance care and research for individuals with arthrogryposis.

Summary of the 3rd international symposium on arthrogryposis.

The 1st international symposium on arthrogryposis (ISA) was held in 2007 in Birmingham, UK, to bring together a multinational group of experts in the field of arthrogryposis, patients and their families to discuss various aspects of care for individuals with Arthrogryposis Multiplex Congenita (AMC). These "lessons learnt" set the tone for the 2nd ISA held in Saint Petersburg, Russia in 2014. Clinical and research advances have recently been made in the field of arthrogryposis and were shared at the 3rd ISA, in Philadelphia, in 2018. Highlights of the 3ISA and future directions are presented.

Muscle and joint function in children living with arthrogryposis multiplex congenita: A scoping review.

Arthrogryposis multiplex congenita (AMC) is characterized by congenital joint contractures present in two or more body areas. Lack of fetal movement is the underlying cause of AMC, which can lead to abnormal connective tissue surrounding the joint resulting in stiffness and muscle atrophy. Treatment aims at improving function and mobility through surgical and/or conservative interventions. A scoping review was conducted to explore the existing knowledge of the evaluation and treatment of muscle and joint function in children with AMC. Three search engines were included and identified 1,271 articles. Eighty-seven studies met the selection criteria and were included in this review. All included studies focused on joints, 30 of which also assessed the muscle. Assessment most often included the position of the contractures (n = 72), as well as range of motion (n = 66). Interventions to improve muscle and joint function were reported in 82 of the 87 papers and included surgery (n = 70) and conservative interventions (n = 74) with bony surgery (i.e., osteotomy) the most common surgery and rehabilitation the most common conservative intervention. Recurrences of contractures were mentioned in 46 of the 68 studies providing a follow-up. Future studies should use validated measures to assess muscle and joint function, and conservative interventions should be described in greater detail and to include a longer follow-up.

Arthrogryposis multiplex congenita definition: Update using an international consensus-based approach.

Arthrogryposis multiplex congenita (AMC) has been described and defined in thousands of articles, but the terminology used has been inconsistent. Some have described it as a diagnosis or syndrome, others as a term or clinical finding. This lack of common language can lead to confusion in clinical and research communities. The aim of this study was to develop a consensus-based definition for AMC using international expert opinion. A consensus-based definition will help harmonize research and clinical endeavors and will facilitate communication among families, clinicians, and researchers. This article describes the methodology used leading to a proposed definition of AMC. First, a literature review was conducted to identify AMC definitions used in included studies. The most commonly used words in the definitions were extracted. Second, a group of eight experts in AMC was selected to identify elements considered critically important to the definition of AMC. Third, based on these critical elements and the literature review, a definition was drafted by the research team. Fourth, a modified Delphi consensus process was conducted using electronic surveys with 25 experts in the field of AMC from eight countries. Survey results were analyzed quantitatively and qualitatively and drafts were modified accordingly. Three rounds of surveys were completed until consensus was reached on a definition of AMC. An annotation of this definition, developed by a panel of international experts, is provided in a separate manuscript in this special issue.

Pain among children and adults living with arthrogryposis multiplex congenita: A scoping review.

Clinical interventions and research have mostly focused on the orthopedic and genetic outcomes of individuals with arthrogryposis multiplex congenita (AMC), and although pain has gained recognition as an important issue experienced by individuals with AMC, it has received little attention within the AMC literature. The aims of this scoping review were to describe the pain experiences of children and adults with AMC, to identify pain assessment tools and management techniques, and document the impact of pain on participation in everyday activities among children and adults with AMC. A search of the literature was conducted in four search engines and identified a total of 89 articles. Once study eligibility was reviewed, 21 studies met the selection criteria and were included in this review. Pain appears to be more commonly experienced in adults with AMC compared with children with AMC, with individuals having undergone multiple corrective procedures self-reporting pain more often. In adult populations, musculoskeletal chronic pain is a significant problem, resulting in restrictions in activities of daily living, mobility, and participation. Researchers and clinicians must agree on the use of validated measures appropriate for evaluating pain in AMC and the use of appropriate pain management techniques to relieve pain. Pediatric studies should focus on determining how commonly pain is experienced in infants, children, and adolescents with AMC. Pain in adults with AMC should be acknowledged to offer proper client-centered interventions throughout the lifespan.

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.

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.

A Comparison of Developmental Outcomes of Adolescent Neonatal Intensive Care Unit Survivors Born with a Congenital Heart Defect or Born Preterm.

OBJECTIVE: To compare cognitive, motor, behavioral, and functional outcomes of adolescents born with a congenital heart defect (CHD) and adolescents born preterm. STUDY DESIGN: Adolescents (11-19 years old) born with a CHD requiring open-heart surgery during infancy (n = 80) or born preterm ≤29 weeks of gestational age (n = 128) between 1991 and 1999 underwent a cross-sectional evaluation of cognitive (Leiter International Performance Scale-Revised), motor (Movement Assessment Battery for Children-II), behavioral (Strengths and Difficulties Questionnaire), and functional (Vineland Adaptive Behavior Scale-II) outcomes. Independent samples t tests and Pearson χ2 or Fisher exact tests were used to compare mean scores and proportions of impairment, respectively, between groups. RESULTS: Adolescents born with a CHD and adolescents born preterm had similar cognitive, motor, behavioral, and functional outcomes. Cognitive deficits were detected in 14.3% of adolescents born with a CHD and 11.8% of adolescents born preterm. Motor difficulties were detected in 43.5% of adolescents born with a CHD and 50% of adolescents born preterm. Behavioral problems were found in 23.7% of adolescents in the CHD group and 22.9% in the preterm group. Functional limitations were detected in 12% of adolescents born with a CHD and 7.3% of adolescents born preterm. CONCLUSIONS: Adolescents born with a CHD or born preterm have similar profiles of developmental deficits. These findings highlight the importance of providing long-term surveillance to both populations and guide the provision of appropriate educational and rehabilitation services to better ameliorate long-term developmental difficulties.

Elementos de datos comunes para la artrogriposis múltiple congénita: Un marco internacional.

OBJETIVO: Para facilitar los estudios multicéntricos y la investigación clínica internacional, este estudio pretende identificar de forma consensuada los elementos de datos estandarizados para la artrogriposis múltiple congénita (AMC). MÉTODO: Estudio de métodos mixtos de grupos de discusión y tres rondas de encuestas Delphi modificadas para llegar a un consenso utilizando dos escalas de clasificación por niveles. RESULTADOS: En total, 45 expertos clínicos y adultos con experiencia vivida (incluidos 12 miembros de un consorcio de AMC) participaron en este estudio procedentes de 11 países: Norteamérica, Europa y Australia. Los CDEs incluyen 321 elementos de datos y 19 medidas estandarizadas en varios dominios desde el desarrollo fetal hasta la edad adulta. Los elementos de datos relativos a los rasgos fenotípicos del CDEs se mapearon de acuerdo con la Ontología de Fenotipos Humanos. Se identificaron como principales facilitadores la estructura de gobernanza universal, protocolos operados de forma local y los planes de sostenibilidad, mientras que los principales obstáculos observados son la capacidad limitada para compartir datos y la necesidad de una infraestructura informática federada. INTERPRETACIÓN: La recopilación de datos sistemáticos sobre la AMC mediante CDEs permitirá investigar las vías etiológicas, describir el perfil epidemiológico y establecer correlaciones genotipo­fenotipo de forma estandarizada. Los CDEs propuestos facilitarán las colaboraciones multidisciplinares internacionales mejorando los estudios a gran escala y las oportunidades para compartir datos, translación de conocimiento y difusión.

Éléments de données communs pour l'arthrogrypose multiple congénitale: Un cadre international.

OBJECTIF: Afin de faciliter les études multisites et la recherche clinique d'envergure internationale, cette étude a pour but d'identifier des éléments de données communs (EDCs) normalisés et fondés sur un consensus pour l'arthrogrypose multiple congénitale (AMC). MÉTHODE: Une étude à méthodes mixtes comprenant plusieurs groupes de discussion et trois séries d'enquêtes Delphi modifiées pour parvenir à un consensus ont été menées. RÉSULTATS: Dans l'ensemble, 45 experts cliniques ainsi qu'adultes ayant une expérience vécue (dont 12 membres d'un consortium d'AMC) ont participé à cette étude à travers 11 pays en Amérique du Nord, Europe et Australie. Les EDCs comprennent 321 éléments de données et 19 mesures standardisées dans divers domaines, du développement du fœtus à l'âge adulte. Les éléments de données relatifs aux traits phénotypiques de l'AMC ont été cartographiés conformément à l'ontologie du phénotype humain (HPO). Une structure de gouvernance universelle, des protocoles de fonctionnement et des plans de développement durable ont été identifiés comme les principaux facilitateurs considérant que la capacité limitée de partage des données et la nécessité d'une infrastructure informatique fédérée étaient les principaux obstacles. INTERPRÉTATION: Une collecte de données systématiques sur l'AMC à l'aide d'EDCs permettra d'étudier sur les voies étiologiques, décrire le profil épidémiologique, et établir des corrélations génotype­phénotype de manière standardisée. Les EDCs proposés faciliteront les collaborations internationales multidisciplinaires en améliorant à grande échelle les études multicentriques, les possibilités de partage des données, ainsi que le transfert et la diffusion des connaissances.

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.