Children with congenital limb deficiency in Norway: issues related to school life and health-related quality of life. A cross-sectional study.

PURPOSE: To describe clinical features, issues related to school life and health-related quality of life (HRQOL) for children with congenital limb deficiency (CLD) and compare these children to Norwegian school children on HRQOL. METHOD: Cross-sectional study. In 2010, a postal questionnaire, designed for this study and the Paediatric Quality of Life Inventory (PedsQL), was sent to 154 eligible parents of children with CLD, aged 6-18 years and registered at TRS National Resource Centre for Rare Disorders in Norway. RESULTS: Response rate 44% (n = 67), median age 11 years, 42% were girls. Of the total group, 46 had unilateral upper limb deficiency (UULD) and 21 had multiple/lower limb deficiency (MLD/LLD). The most common UULD was below-elbow deficiency, of these, 65% used grip-improving devices, and 35% used prostheses. Children with UULD-reported PedsQL score similar to Norwegian schoolchildren (NSC). The MLD/LLD group was heterogeneous; most had below-elbow/knee deficiency. In this group, PedsQL scores were reduced for physical and social functioning compared with NSC. Compared with children with UULD, more children with MLD/LLD were restricted in participation because of pain and fewer participated in physical education with peers. CONCLUSIONS: Most children with CLD participated with their peers and managed well in everyday life. Children with MLD/LLD seemed to have more challenges than children with UULD. Approximately one-third of all the children had assistive devices and/or practical assistance in school. Implications for Rehabilitation Most children with upper-limb deficiency (UULD) in Norway manage well in everyday life and have HRQOL equal to other Norwegian children. Many choose grip-improving devices instead of prostheses. Their preferences should be respected and taken into account as the need for new assistive devices arise. For children with pronounced disabilities, access to, and use of, assistive devices, adaptions and practical assistance may be important for participation. Cooperation with the child and the parents is necessary to find useful measures. Physical education and practical subjects may provide special challenges, both for children and their teachers. Children themselves often find good solutions and the tasks should be planned ahead in cooperation with them.

Parents' experiences of splinting programs for babies with congenital limb anomalies.

PURPOSE: To explore parent experiences with participation in splinting programs for their child with a congenital limb anomaly in the child's first year of life. While parent participation is recognized as integral to successful outcomes of splinting programs for these children, little is known about factors influencing their participation. METHODS: Through purposive sampling, 10 families recruited from outpatient clinics at a pediatric tertiary care facility participated in semi-structured interviews in this qualitative study utilizing interpretive description methodology. Constant comparative and concurrent data collection and analysis were employed. RESULTS: Themes identified: (1) An experience of adjustment; (2) The value of timely and comprehensive information; (3) Appreciation of support networks; and (4) Characteristics unique to splinting programs. Practical suggestions for program enhancements are outlined. CONCLUSIONS: Addressing parents' information, support, and individual needs are keys to promoting active parent participation in their child's splinting program, contributing to positive outcomes for their child.

Concurrent Adaptation of Human and Machine Improves Simultaneous and Proportional Myoelectric Control.

Myoelectric control of a prosthetic hand with more than one degree of freedom (DoF) is challenging, and clinically available techniques require a sequential actuation of the DoFs. Simultaneous and proportional control of multiple DoFs is possible with regression-based approaches allowing for fluent and natural movements. Conventionally, the regressor is calibrated in an open-loop with training based on recorded data and the performance is evaluated subsequently. For individuals with amputation or congenital limb-deficiency who need to (re)learn how to generate suitable muscle contractions, this open-loop process may not be effective. We present a closed-loop real-time learning scheme in which both the user and the machine learn simultaneously to follow a common target. Experiments with ten able-bodied individuals show that this co-adaptive closed-loop learning strategy leads to significant performance improvements compared to a conventional open-loop training paradigm. Importantly, co-adaptive learning allowed two individuals with congenital deficiencies to perform simultaneous 2-D proportional control at levels comparable to the able-bodied individuals, despite having to a learn completely new and unfamiliar mapping from muscle activity to movement trajectories. To our knowledge, this is the first study which investigates man-machine co-adaptation for regression-based myoelectric control. The proposed training strategy has the potential to improve myographic prosthetic control in clinically relevant settings.

Preferences for rehabilitation services among women with major limb amputations.

PURPOSE: We present five cases of adult females with major limb amputations, their concerns and preferences for services across the life span. DESIGN: A convenience sample of five veteran and nonveteran women aged 19-58 with major limb amputations participating in a regional VA Prosthetics Conference in 2010 took part in a panel interview. FINDINGS: The concerns identified by these women as high priorities included independence and participation in a full range of life activities, limitations in access, patient decision-making and body image concerns, and preferences for selected services. Maximizing function and quality of life for women amputees requires identifying patient preferences for rehabilitation and prosthetic services. Lessons learned could inform development of clinic-based rehabilitation care, prosthetic services, and studies of women with major limb amputations. CONCLUSIONS: As the current conflicts in Iraq and Afghanistan wind down, the number of women veterans seeking rehabilitation and prosthetic services will increase. With this information, rehabilitation and prosthetic service providers and organizations will be uniquely positioned to provide prevention and treatment of amputations for this growing population of women veterans in national care delivery systems and in communities. CLINICAL RELEVANCE: An open-ended facilitated discussion among a panel of women with major limb amputations provided insights for providers and organizations with respect to needs, concerns, and preferences for rehabilitation and prosthetic services.

Functional outcome after prosthetic rehabilitation of children with acquired and congenital lower limb loss.

The purpose of this study was to compare the functional status of children with acquired and congenital lower limb loss after 3 weeks and 6 months of prosthetic rehabilitation. Forty-one children aged between 8 and 17 years participated in the study. The children underwent prosthetic fitting, prosthetic training and rehabilitation after physiotherapy evaluations. Gait patterns and weight bearing values were assessed, and the Amputee Mobility Predictor (AMP) Questionnaire was applied. The congenital group had better gait patterns, weight bearing values and AMP scores in the initial assessment and after 3 weeks. The statistical analyses of the same parameters after 6 months showed that there were no significant differences between the two groups (P>0.05). It was determined that all congenital patients and only 16 of 20 acquired patients were wearing their prostheses for more than 8 h a day. When the outcomes of the first assessments were compared, the congenital group showed a better functional level, gait pattern and weight bearing value. At the end of 6 months, an improvement was observed in the functional level, gait pattern and weight bearing value in both the groups. The functional state, gait pattern and weight bearing value of children with limb loss can be improved if they actively use their prosthesis.

Participation and quality of life in children and adolescents with congenital limb deficiencies: A narrative review.

Children and adolescents with congenital limb deficiencies are visibly and physically different from their peers. They present limitations in activities, depending on the severity of deficiency. Therefore they are at risk for lower participation in social and leisure activities. This might negatively influence the perception on their quality of life. The aim of this narrative review is to describe participation and quality of life in children with congenital limb deficiencies. Participation and quality of life are relatively new concepts. Psychosocial functioning, being closely related to the concept of quality of life, is described as well. A comprehensive review of the literature was conducted on participation, quality of life and psychosocial functioning in children and adolescents with congenital limb deficiencies. The review involved a systematic search using multiple data sources. Fifteen cross-sectional studies were included in this review. The literature to date provides limited knowledge on how children and adolescents with congenital limb deficiencies participate and how they perceive their quality of life. The psychosocial functioning, although described as at risk, appears to be comparable to healthy peers. In conclusion, more research is needed on how children and adolescents with congenital limb deficiencies participate and how they perceive their quality of life. A broader perspective will not only help parents in making the right choices for their children, but can also have implications for health care providers, teachers and agencies funding rehabilitation services.

Congenital postero-medial bowing of the tibia and fibula: is early surgery worthwhile?

We report the results of surgical treatment of congenital postero-medial bowing of the tibia and fibula. Twenty patients with congenital postero-medial bowing were seen with nine patients treated surgically (corrective osteotomy or lengthening and deformity correction with Ilizarov fixator) and 11 patients managed conservatively. The angles of medial and posterior angulation and limb length discrepancy were recorded serially and compared. Surgical complications were recorded. The mean follow-up was 9.5 and 6.1 years after surgery. Although there was a reduction in angulation and correction of limb length discrepancy, we encountered complications in the surgically treated patients. There was no statistically significant difference between the surgically treated and conservatively managed groups with respect to mean angulation, though there was a significant difference in the mean limb length discrepancy. In conclusion, we advocate a one-stage lengthening and correction of the residual deformity closer to skeletal maturity.

Effects of paediatric limb loss on healthcare utilisation, schooling and parental labour supply.

PURPOSE: To explore the impact of childhood limb loss on families in terms of healthcare utilisation, schooling and parental labour supply. METHODS: Data were obtained from a cross-sectional, retrospective pilot survey of 123 parents or caregivers of children with limb loss selected randomly after stratification by aetiology (i.e. trauma, malignancy and congenital limb deficiency) from among eligible families identified by the Amputee Coalition of America. Healthcare utilisation, school (child) and labour market (parents) participation were examined. RESULTS: Children with limb loss use health services frequently and miss school for limb loss-related concerns. Over half of all parents adjusted their work participation in response to their child's limb loss. The use of prostheses may increase direct and indirect costs of limb loss. Children with acquired limb loss (amputation following trauma or cancer) were more likely than those with a congenital limb deficiency to use a prosthesis. CONCLUSIONS: Our data suggest that the impact of limb loss on families of affected children may include substantial costs, particularly when school and work effects are taken into account. Further research is needed to identify the full household- and societal-level costs of childhood limb loss and suggest interventions to reduce the burden experienced by families.

[Anatomical basis of classifications of congenital limbs deficiencies]. / Anatomiczne podstawy klasyfikacji wrodzonych ubytków konczyn.

The wide range of the congenital skeletal limb deficiencies caused difficulties with their classification. We present the most fundamentally and the most common classifications of the congenital skeletal defects.

Prosthetic management of children in The Netherlands with upper limb deficiencies.

The aim of the study was to assess which children with congenital and acquired upper limb deficiencies were fitted with prostheses, what types of prostheses were prescribed as first, second and third prostheses, at what age prostheses were first prescribed and how long the children wore their prostheses. The design was a retrospective chart review at De Hoogstraat Rehabilitation Centre, Utrecht (The Netherlands). Medical files of all patients with congenital or acquired upper limb deficiencies who visited the outpatient clinic between 1972 and 1996 were reviewed, collecting data on patient characteristics, prosthesis prescription and use of prostheses. The group included 224 children, of whom 206 (92%) had congenital deficiencies. Of all children with unilateral congenital deficiencies, 54% had been fitted with prostheses, against 3% of all children with bilateral congenital deficiencies and 67% of all children with acquired deficiencies. In the congenital group, it was children with transverse defects of one-third or two-thirds of the forearm who had most frequently had prostheses fitted (85% of the children). Most of the children with unilateral congenital deficiencies had received passive prostheses as their first prostheses (80 of the 90 prescribed prostheses); children with acquired defects usually had active prostheses (8 of the 12 prescribed prostheses). Body-powered prostheses were most commonly prescribed as the second type of prosthesis. In the group of 119 children who had been seen before the age of 4 years and had been followed for at least three years, 63 had been fitted with one or more prostheses at a mean age of 2.6 (SD 2.5) years. Of the 46 children with congenital defects, 30 had been fitted with prostheses, and at the age of 12, two-thirds of them still used their prostheses (63%, 19/30). "De Hoogstraat" rehabilitation centre uses a restrained prosthesis prescription policy, depending on the type of deficiency and the expected functional benefits. Data on prosthesis use are encouraging, although a follow-up study is required to determine the functional outcome for prosthesis users and non-users.

An unusual complication of a myoelectric prosthesis.

This clinical note describes an unusual and previously unreported complication of wearing a myoelectric prosthesis in a child with congenital upper limb deficiency. After an initial period of wearing a cosmetic prosthesis, he was provided with a child's trans-radial myoelectric prosthesis with a Steeper Scamp Electric hand at the age of 21 months. After successful and uncomplicated use of this prosthesis for 2 years--a sudden onset of burns of the skin of the stump underlying the single electrode site was noted. The cause of the burns was thought to be due to heat generated from electrical failure possibly from ingress of moisture. This complication has not before been experienced in the authors' centre, nor has it been reported in the literature. While constant improvements are being made in the field of electrically powered prosthesis, the rehabilitation team should be aware of this unusual complication.

Effectiveness of prosthetic rehabilitation of children with limb deficiencies present at birth.

This study was performed to investigate the efficacy of prosthetic rehabilitation in children with congenital malformations, also to determine whether there were any factors related to family history and pregnancy which could have affected the formation of such deficiencies. Twenty-five (25) limb deficient children were provided with prostheses and received rehabilitation. A detailed family and pregnancy history was researched through the records. The ability of performing activities of daily living was scored on a four point scale. Thirteen (13) lower and 12 upper limb deficient children with a mean age of 4.88+/-2.52 years were included in the study. Ten (10) children had longitudinal and 15 transverse deficiencies. Traditional marriages amongst close cousins were observed in 31%. Five (5) mothers used medications, 2 received radiodiagnostic tests and 2 had bleedings during pregnancy. Some 84.7% of the lower limb group became independent walkers without requiring walking aids while 15.3% of them required Canadian crutches for independent ambulation. A total of 61.5% of these children actively participated in recreation with peers. In the upper limb group 41.6% were completely independent in self-care, feeding and hand skills; 33.3% showed independence with self-help devices while 25% tended to use the prostheses for assistive purposes. Participation in recreational activities was 58.2%. The author's results have shown that the children gained a functional activity level although the prostheses were provided in a late period. It can be concluded that success in rehabilitating these children is a true challenge.

Toddlers with limb deficiency: conceptual basis and initial application of a functional status outcome measure.

OBJECTIVE: To describe the conceptual foundation, development, and initial psychometric analyses of a new outcome measure of functional status in toddlers with limb deficiency. DESIGN: Parents of children with limb deficiency completed self-report measures during a routine medical clinic visit. SETTING: Outpatient orthopedic pediatric clinic. PARTICIPANTS: Twenty parents (mothers) of children (ages 1 to 4 years) with acquired or congenital limb deficiency. MAIN OUTCOME MEASURE: The newly developed Child Amputee Prosthetics Project-Functional Status Inventory for Toddlers (CAPP-FSIT). RESULTS: Estimates of internal consistency reliability of the measure are high, suggesting conceptual congruence among the items. Initial validity studies confirm the CAPP-FSIT differentiates between toddlers with upper limb deficiency and lower limb deficiency in terms of functional activity and prosthesis use. The new measure does not appear to be contaminated by gender or socioeconomic status. CONCLUSION: The CAPP-FSIT is a promising measure for assessing functional abilities in toddlers with limb deficiency.

Prosthesis rejection in children with a unilateral congenital arm defect.

OBJECTIVE: To determine the rate of rejection for prosthetic use in children and to investigate reasons for this rejection. DESIGN: Cross-sectional study of a cohort of children. SETTING: Rehabilitation centre, St Maartenskliniek, Nijmegen, The Netherlands. SUBJECTS: Thirty-two children (0-18 years) with a unilateral congenital arm defect who visited the clinic between September 1991 and December 1996. METHODS: Parents of all children and 19 children (> or =6 years) completed a questionnaire. RESULTS: Eleven children (34%) rejected the prosthesis. A survival function shows that the rejection can be characterized by three periods: 0-40 months, 40-162 months and after 162 months. In the first and last period a high rate of rejection is seen, while in the second period a low rate exists. Fitting for the first time after 2 years of age seems to be related with higher rejection rate. Lack of functional gain with the prosthesis, as perceived by the subjects and the parents, is significantly associated with increased rejection rate. Increased rejection rate is associated with the parents' disappointment, insufficient involvement of the parents in treatment, and dissatisfaction pertaining to emotional and social guidance. CONCLUSIONS: Rejection seems to occur in two main periods: within 3.5 years after being provided with a prosthesis and after 13.5 years of prosthetic use, when most children experience puberty. Fitting before the age of 2 years seems to reduce rejection rate. Preventing the parents' disappointment about prosthetic benefits as well as providing them with sufficient involvement in treatment and adequate guidance are essential for optimal results of prosthetic rehabilitation.