Comparative study of the use of Paediatric Quality Of Life Inventory 4.0 generic core scales in paediatric patients with spine and limb pathologies.

AIMS: The health-related quality of life (HRQoL) of paediatric patients with orthopaedic conditions and spinal deformity is important, but existing generic tools have their shortcomings. We aim to evaluate the use of Paediatric Quality of Life Inventory (PedsQL) 4.0 generic core scales in the paediatric population with specific comparisons between those with spinal and limb pathologies, and to explore the feasibility of using PedsQL for studying scoliosis patients' HRQoL. METHODS: Paediatric patients attending a speciality outpatient clinic were recruited through consecutive sampling. Two groups of patients were included: idiopathic scoliosis, and paediatric orthopaedic upper and lower limb condition without scoliosis. Patients were asked to complete PedsQL 4.0 generic core scales, Youth version of 5-level EuroQol-5-dimension questionnaire, and Refined Scoliosis Research Society 22-item (SRS-22r) questionnaire. Statistical analyses included scores comparison between scoliosis and limb pathology patients using independent-samples t-test, and correlation tests of PedsQL and SRS-22r. RESULTS: A total of 566 paediatric patients were recruited: 357 (63.0%) having idiopathic scoliosis, and 209 (37.0%) with limb conditions. Patients with limb pathology had lower functioning scale, summary, and total scores of PedsQL than scoliosis patients (p < 0.05 to p < 0.001). No floor or ceiling effects (< 15%) were detected for PedsQL Psychosocial Health Summary and total scores in both groups. PedsQL was sensitive in differentiating patients with/without problems in their daily lives (p < 0.05 to p < 0.01). PedsQL summary and total scores correlated with SRS-22r total score. CONCLUSION: PedsQL is an effective HRQoL measure for both paediatric orthopaedic groups with minimal ceiling and floor effects, and is capable of detecting worse HRQoL in patients with limb pathology. The multidimensional PedsQL is sensitive in differentiating among those with daily life problems, especially for scoliosis patients. Cite this article: Bone Joint J 2020;102-B(7):890-898.

Body Knowledge in Children with Congenital Upper Limb Deficiency.

BACKGROUND: It is advantageous to effectively develop motor functions and a deep understanding of one's body (for example, relative positions, relationships, names, and functions of body parts). It has been reported that lexical-semantic knowledge of the defective body part is diminished in children with congenital lower limb deficiencies, and the features of body knowledge in children with congenital upper limb deficiencies (ULDs) have not been clarified. This study aimed to explore how children with ULDs perceive their bodies. METHODS: Participants included six children with congenital ULDs and 14 control children, aged 5-11 years. They drew self-portraits and answered questions about the names of body parts. RESULTS: Children with ULDs were significantly more likely to omit hands in their self-portraits than the control children. In the verbal tests, children with ULDs had a lower rate of correct responses concerning upper limbs, arms, hands, legs, and feet than the control children. CONCLUSION: Children with ULDs have diminished visuospatial body knowledge of the hands, as well as diminished lexical-semantic body knowledge of both the upper and lower limbs.

A systematic review of the use of psychological assessment tools in congenital upper limb anomaly management.

STUDY DESIGN: This study is a systematic review. INTRODUCTION: Congenital upper limb anomalies (CULAs) are often associated with psychosocial difficulties including negative body image, low self-esteem, and withdrawal from social activities. PURPOSE OF THE STUDY: The purpose of the study was to identify, describe, and evaluate all published psychosocial assessment tools used in the assessment and management of CULAs, to direct the use of these tools in clinical practice, and to identify areas requiring development. METHODS: A systematic search of Medline, EMBASE, Pubmed, and PsychInfo databases was performed. In total, 23 studies were included for analysis. Data extracted included study and population characteristics, psychosocial measures utilized, psychosocial outcomes reported, and the reliability and validity of measures. RESULTS: Seventeen patient-reported measures were identified. The most commonly used tool was a Likert scale (n =7) with satisfaction with appearance and function, the most commonly evaluated outcome (n = 18). Other evaluated domains included quality of life or psychosocial functioning (n = 9), self-image (n = 2), and psychological well-being (n = 5). DISCUSSION AND CONCLUSIONS: There is no well-established, validated assessment tool in regular use to effectively address psychosocial outcomes for children with CULAs. Although the majority of children born with a CULA appear to adjust well, this is by no means the case for all children. There is a need for routine psychosocial evaluation preoperatively and postoperatively with long-term follow-up data to help direct patient-orientated management. A clear understanding of these, and how to measure them, is needed to help for a patient-centred, multidisciplinary, evidence-driven approach to CULA management.

Education and work participation among adults with congenital unilateral upper limb deficiency in Norway: A cross-sectional study.

OBJECTIVES: To describe level of education and work participation among adults with congenital unilateral upper limb deficiency (CUULD) in Norway and to explore associations between work participation and demographic and clinical factors. METHODS: Cross-sectional study. In 2012, a postal questionnaire was sent to 186 persons with congenital limb deficiency (CLD), age ≥ 20 years, registered at the TRS National Resource Center for Rare Disorders. In the original CLD study, 77 persons with CUULD responded. In this paper 64 persons with CUULD of working age (20-67 years) are included. Data on demographic factors as education level and work participation, and clinical factors including limb deficiency characteristics, chronic pain (Standardized Nordic Questionnaire), fatigue (Fatigue Severity Scale), physical and mental health (SF-36) were analyzed through descriptive and comparable statistics and logistic regression analyses. RESULTS: Sixty-four persons participated, mean age 43.4 (SD 13.7; range 20-67 years), 45 were women. Education level >13 years was reported by 34. Forty- three of the 64 participants were employed, 21 were prematurely retired (disability benefits). 11 of the 43 employed, and 6 of the 21 prematurely retired had completed vocational education. Physically demanding occupations (work activities that required standing, walking and lifting) were reported by 25 of the 43 employed and 13 of the 21 prematurely retired. 17 of the 64 reported need for further adaptions in their workplaces. The strongest predictors of work participation were younger age (OR 0.86) and good physical health (OR 1.21). CONCLUSION: Two thirds of persons with CUULD were employed; while one third was prematurely retired and had left work earlier than expected. This suggests that persons with CUULD may experience challenges in work participation. Although levels of education were relatively high, several had chosen careers that required physical strain. Younger age and good physical health were the most important factors mediating work participation.

Functional Impact of Congenital Hand Differences: Early Results From the Congenital Upper Limb Differences (CoULD) Registry.

PURPOSE: To characterize the functional, emotional, and social impact of congenital upper limb differences on affected children and families before treatment, using validated functional outcome instruments. METHODS: From June 2014 to March 2016, 586 children with congenital upper limb differences from 2 pediatric hospitals were enrolled in the Congenital Upper Limb Differences registry. Demographic, clinical, and radiographic data were collected, and diagnoses categorized according to the Oberg-Manske-Tonkin classification. Functional outcomes were assessed in 301 patients using the Pediatric Outcomes Data Collection Instrument (PODCI) and Patient-Reported Outcomes Measurement Information System (PROMIS) upper extremity (UE) function, pain, anxiety, depression, and peer relationships modules. RESULTS: The cohort had high median PODCI scores in all domains, ranging from 83 to 100 in children and adolescents. Patients had decreased PROMIS UE scores compared with population norms; however, they showed low scores for pain, anxiety, depression and higher scores in the peer relationship domain, respectively. Patients with entire limb involvement had higher PROMIS pain scores and lower PODCI UE and global functioning than those with differences limited only to the hand. Compared with those with bilateral involvement, patients with unilateral differences reported higher scores for PODCI sports global functioning, better PROMIS UE function, and lower pain scores. Additional orthopedic conditions and medical comorbidities negatively influenced all PODCI scores and PROMIS pain and UE function domains. CONCLUSIONS: Children with congenital hand differences report decreased upper limb function but better peer relationships and positive emotional states compared with population norms. CLINICAL RELEVANCE: The Congenital Upper Limb Differences registry is a valid source of information related to congenital upper limb differences in clinical practice. With continuous enrollment and longitudinal follow-up, the registry will increase the understanding of UE function and psychosocial aspects of health in pediatric population.

Parental Assessment of Status of Congenital Upper Limb Differences: Analysis of the Pediatric Outcomes Data Collection Instrument.

PURPOSE: To determine the range of the Pediatric Outcomes Collection Instrument (PODCI) scores for children with a wide variety of congenital upper limb differences and to examine the scoring effect of the patient's surgical history, family history, severity of involvement, and syndromic associations. METHODS: We reviewed the PODCI scores for 109 patients, aged 2-18 years, treated for nontraumatic upper extremity conditions. Charts were reviewed for sex, age, extent of limb involvement, laterality, family history, surgical history, and syndrome association. All patients were classified based on the Oberg, Manske, Tonkin classification with general categories of malformation, deformation, or dysplasia. RESULTS: Of 109 patients, 80 (73%) had a malformation, 12 (11%) had a deformation, and 17 (16%) had a dysplasia. The cohort as a whole had a happiness PODCI score that was similar to the normal population, yet a lower (worse) PODCI score for upper extremity and global function. Patients with a dysplasia had a higher upper extremity function scores than those with malformations or deformations, but they had similar happiness and global function scores. Complete upper limb involvement and lower extremity involvement statistically lowered the PODCI score within our study cohort, whereas a positive family history and syndromic association increased PODCI scores. CONCLUSIONS: This study showed that there was a similar level of perceived happiness between children/adolescents with congenital upper extremity conditions compared with the normal pediatric population based on PODCI scores. In contrast, the perceived upper extremity and global function was significantly decreased in patients with congenital differences compared with normal individuals. This investigation also revealed that the extent of upper extremity involvement, lower extremity involvement, family history, and syndromic association may affect PODCI scores as independent variables and should be taken into consideration in studies of upper extremity congenital anomalies. TYPE OF STUDY/LEVEL OF EVIDENCE: Prognostic IV.

Health-related quality of life in adults with congenital unilateral upper limb deficiency in Norway. A cross-sectional study.

PURPOSE: To examine subjective health-related quality of life (HRQoL) in adults with congenital unilateral upper limb deficiency (UULD) in Norway and to explore the associations between demographic and clinical factors and HRQoL. METHOD: Cross-sectional study comparing HRQoL, measured by SF-36, among adults with UULD and an age- and gender-matched control group from the Norwegian general population (NGP). RESULTS: Seventy-seven respondents, median age 42 years (range: 20-82); 71% were women. Most had left-sided (61%), below elbow (53%), transverse (73%) deficiency. Compared to the NGP, the UULD group reported reduced HRQoL on all SF-36 subscales except for the role emotional (RE) scale (p=0.321), mental health (MH) (p=0.055) and mental component summary (MCS) (p=0.064). The greatest difference was on the bodily pain (BP) scale (point difference of 20.0). Multiple linear regression models showed significant association between several physical- and mental SF-36 subscales and occupational status, occurrence of comorbidity and chronic pain. CONCLUSIONS: Persons with UULD reported reduced HRQoL on most SF-36 subscales, mostly in the physical health domain. Employment status, occurrence of comorbidity and chronic pain seem to have a negative impact on the HRQoL. Measures that can reduce pain and loss of function should be given particular attention in UULD rehabilitation. Implications for Rehabilitation Persons with congenital unilateral upper limb deficiency (UULD) who experience pain and discomfort should seek professional help for evaluating their everyday coping strategies. Professionals who meet persons with UULD should examine anomalies, comorbidity, pain and employment status before choosing advices and actions. Individually adapted grip-improving devices, environments, physical exercise and pain management programs should be implemented early to reduce pain, loss of function and decreased HRQoL. A multidisciplinary approach is often necessary when counseling persons with UULD.

Sports participation of individuals with major upper limb deficiency.

BACKGROUND: The aim of this study was to analyse sports participation of individuals with upper limb deficiency (ULD) and associated factors. METHODS: Individuals with ULD originating from the Netherlands were invited, via their attending physiatrist or prosthetist, to answer a digital or paper questionnaire. The questionnaire consisted of 34 items related to personal characteristics, type of deficiency and participation in sports. RESULTS: Of the 175 respondents, 57% participated in sports for at least 60 min/week (athletes). Results of logistic regression analyses indicated that the presence of an additional health problem hindering sports participation (ß=-1.31, p<0.001) and a more proximal onset of the limb deficiency (ß=0.76, p=0.022) had a negative influence on sports participation. For individuals with an acquired ULD, a medium education level (ß=0 0.77, p=0.108) and participation in sports before their amputation (ß=1.11, p=0.007) had a positive influence on sports participation. The desire to stay healthy and the pleasure derived from sports participation represented the main reasons for participation in sports according to athletes. The presence of an additional medical problem and a lack of motivation were reasons for non-athletes to not participate in sports. CONCLUSIONS: The majority of individuals with ULD participate in sports regularly. The presence of an additional medical problem, as well as the level of ULD, educational level and participation in sports before amputation, was related to participation in sports.

Is motor knowledge part and parcel of the concepts of manipulable artifacts? Clues from a case of upper limb aplasia.

The sensory-motor theory of conceptual representations assumes that motor knowledge of how an artifact is manipulated is constitutive of its conceptual representation. Accordingly, if we assume that the richer the conceptual representation of an object is, the easier that object is identified, manipulable artifacts that are associated with motor knowledge should be identified more accurately and/or faster than manipulable artifacts that are not (everything else being equal). In this study, we tested this prediction by investigating the identification of manipulable artifacts in an individual, DC, who was totally deprived of hand motor experience due to upper limb aplasia. This condition prevents him from interacting with most manipulable artifacts, for which he thus has no motor knowledge at all. However, he had motor knowledge for some of them, which he routinely uses with his feet. We contrasted DC's performance in a timed picture naming task for manipulable artifacts for which he had motor knowledge versus those for which he had no motor knowledge. No detectable advantage on DC's naming performance was found for artifacts for which he had motor knowledge compared to those for which he did not. This finding suggests that motor knowledge is not part of the concepts of manipulable artifacts.

Opinions of youngsters with congenital below-elbow deficiency, and those of their parents and professionals concerning prosthetic use and rehabilitation treatment.

BACKGROUND: Youngsters with unilateral congenital below-elbow deficiency (UCBED) seem to function well with or without a prosthesis. Reasons for rejecting prostheses have been reported earlier, but unfortunately not those of the children themselves. Furthermore, reasons for acceptance are underexplored in the literature. OBJECTIVES: To investigate opinions of children and early and late adolescents with UCBED, and those of their parents and healthcare professionals, concerning (1) reasons to wear or not to wear prostheses and (2) about rehabilitation care. METHODS: During one week of online focus group interviews, 42 children of 8-12 y/o, early and late adolescents of 13-16 and 17-20 y/o, 17 parents, and 19 healthcare professionals provided their opinions on various topics. This study addresses prosthetic use or non-use of prosthetics and rehabilitation care. Data were analyzed using the framework approach. RESULTS: Cosmesis was considered to be the prime factor for choosing and wearing a prosthesis, since this was deemed especially useful in avoiding stares from others. Although participants functioned well without prostheses, they agreed that it was an adjuvant in daily-life activities and sports. Weight and limited functionality constituted rejection reasons for a prosthesis. Children and adolescents who had accepted that they were different no longer needed the prosthesis to avoid being stared at. The majority of participants highly valued the peer-to-peer contact provided by the healthcare professionals. CONCLUSIONS: For children and adolescents with UCBED, prostheses appeared particularly important for social integration, but much less so for functionality. Peer-to-peer contact seemed to provide support during the process of achieving social integration and should be embedded in the healthcare process.

Mixed feelings of children and adolescents with unilateral congenital below elbow deficiency: an online focus group study.

The existing literature is inconsistent about the psychosocial functioning of children and adolescents with Unilateral Congenital Below Elbow Deficiency (UCBED). The objective of this qualitative study was to explore the psychosocial functioning of children and adolescents with UCBED in terms of their feelings about the deficiency and what helps them to cope with those feelings. Additionally, the perspectives of prosthesis wearers and non-wearers were compared, as were the perspectives of children, adolescents, parents and health professionals. Online focus group interviews were carried out with 42 children and adolescents (aged 8-12, 13-16 and 17-20), 16 parents and 19 health professionals. Questions were asked about psychosocial functioning, activities, participation, prosthetic use or non-use, and rehabilitation care. This study concerned remarks about psychosocial functioning. Children and adolescents with UCBED had mixed feelings about their deficiency. Both negative and positive feelings were often felt simultaneously and mainly depended on the way people in the children's environment reacted to the deficiency. People staring affected the children negatively, while support from others helped them to cope with the deficiency. Wearing a prosthesis and peer-to-peer contact were also helpful. Non-wearers tended to be more resilient than prosthesis wearers. Wearers wore their prosthesis for cosmetic reasons and to prevent them from negative reactions from the environment. We recommend that rehabilitation teams make parents aware of their great influence on the psychosocial functioning of their child with UCBED, to adjust or extend the currently available psychosocial help, and to encourage peer-to-peer contact.

Children with surgically corrected hand deformities and upper limb deficiencies: self-concept and psychological well-being.

We studied self-concept and psychological well-being in children with hand deformities and upper limb deficiencies. Ninety-two children, 53 boys, 39 girls, aged 9-11 years were included. The children were divided into two subgroups - one with milder (less visible) deformities and one with severe (more complex and visible) finger-hand-arm deformities. Of the 92 children, 79 had received reconstructive surgery, and 13 had been treated with prostheses. The Piers-Harris Children's Self-Concept Scale (PHCSCS) was used to measure self-esteem and well-being. Overall PHCSCS scores showed that the whole hand deformity group had 'good' self-concept with mean scores in excess of 60 points, equal to a comparison group of healthy children. Within the hand deformity group, those with mild deformities had lower scores than those with severe deformities. This result was also found in the group of boys but not in the girls. The children with severe deformities had even higher scores than the comparison group regarding the subscale 'Intellectual and School Status'. The children with milder deformities had lower scores than the comparison group regarding the subscale 'Popularity'.

[Peromelia]. / Peromelie.

Peromelia is a rare but mutilating congenital deformity representing failure of formation of parts of the upper limb. The deformity is presented unilaterally in the vast majority of the cases. Usually, these children are totally healthy beside from the deformity and are not seriously handicapped by the deformity. Correction of the deformity by hand- or forearm transplantation is not yet possible. Treatment consists of support with prosthesis in case of missing upper- or forearm and construction of fingers by toe-to-hand transplantation in case of missing fingers and hand. Treatment is not mandatory as the children use the stump in combination with their unimpaired upper limb for bimanual daily life activities. The mutilating aspect of the deformity frequently does impair especially parents but also the children to a higher extent than the actual functional disability. Psychological aid is recommended to support children and parents in managing their life with this severe deformity.

Multivariate prediction of upper limb prosthesis acceptance or rejection.

OBJECTIVE: To develop a model for prediction of upper limb prosthesis use or rejection. DESIGN: A questionnaire exploring factors in prosthesis acceptance was distributed internationally to individuals with upper limb absence through community-based support groups and rehabilitation hospitals. SUBJECTS: A total of 191 participants (59 prosthesis rejecters and 132 prosthesis wearers) were included in this study. METHODS: A logistic regression model, a C5.0 decision tree, and a radial basis function neural network were developed and compared in terms of sensitivity (prediction of prosthesis rejecters), specificity (prediction of prosthesis wearers), and overall cross-validation accuracy. RESULTS: The logistic regression and neural network provided comparable overall accuracies of approximately 84 +/- 3%, specificity of 93%, and sensitivity of 61%. Fitting time-frame emerged as the predominant predictor. Individuals fitted within two years of birth (congenital) or six months of amputation (acquired) were 16 times more likely to continue prosthesis use. CONCLUSIONS: To increase rates of prosthesis acceptance, clinical directives should focus on timely, client-centred fitting strategies and the development of improved prostheses and healthcare for individuals with high-level or bilateral limb absence. Multivariate analyses are useful in determining the relative importance of the many factors involved in prosthesis acceptance and rejection.

[Life experience of adults with unilateral agenesia of the forearm: effect of prosthesis on self image and social relations]. / Parcours de vie d'adultes présentant une agénésie unilatérale d'avant-bras: enjeux et incidence du recours à la prothèse sur l'image de soi et les relations sociales.

PURPOSE OF THE STUDY: This study was devoted to better understanding how adults with agenesia of the forearm live their condition. The malformation studied was identical to that of a previous study in children. The present study was designed to provide professionals and parents with a reference system for making therapeutic decisions. MATERIAL AND METHODS: An intensive survey using semi-directive interviews was conducted among adults aged 19 to 37 years, 12 women and 8 men, with unilateral agenesia of the forearm. The majority of the participants had an occupation and an active social and familial life. RESULTS: The survey revealed factors of limitation or progress, expectations and renouncements, marking the life experience of these persons. The prosthesis had a significant impact on their lives. DISCUSSION: Four types of life experience could be identified from the survey data. All four could be understood as a search for equilibrium between internal reality (desired self image) and external reality (image produced by the physical and human environment via the regards of others and obstacles encountered). Several modalities for using a prosthesis, several ways of coping with the absence of a hand, with or without a prosthesis, and several ways of constructing a self-representation were distinguished. Rather than a functional disability, agenesia was found to be perceived as a persistent problem in daily life, generating handicap- or discrimination-producing situations. CONCLUSION: Forearm agenesia creates a situation different from normal and as such makes the question of self-identity and social relations more complex than for others. The comments provided by these young adults who cope with the paradoxical condition of an amputated but functional body demonstrated the central role of the body.

Psychosocial adjustment in Swedish children with upper-limb reduction deficiency and a myoelectric prosthetic hand.

AIM: To study psychosocial adjustment and mental health in children with upper-limb reduction deficiency and a myoelectric prosthetic hand. METHODS: Sixty-two parents of children aged 8 to 18 y old answered a questionnaire concerning competence and behaviour/emotional problems in their children. Of the 62 children, 37 adolescents aged 11 to 18 y old answered questionnaires concerning competence, problems and mood state. The results were compared with Swedish normative data. The children were divided into five groups based on degree of myoelectric prosthetic use. RESULTS: Children with upper-limb reduction deficiency and a myoelectric prosthetic hand showed social competence and behaviour/emotional problems similar to Swedish standardized norms. However, withdrawn behaviour was significantly higher in all children, social competence was significantly lower in girls, and social activities were significantly lower in older children with upper-limb reduction deficiency. There was a significant difference between prosthetic use groups. Non-users had significantly more delinquent behaviour problems than full-time users. There was an interaction between gender and prosthetic use in their affect on competence and behaviour/emotional problems, yielding two contrasting patterns. CONCLUSION: Children with upper-limb reduction deficiency and a myoelectric prosthetic hand are as well adjusted psychosocially as their able-bodied peers. There are indications, however, of social stigmata related to the deficiency, which have to be considered differently in boys and girls.