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Macrodystrophia lipomatosa (MDL) is a rare congenital, nonhereditary anomaly characterized by overgrowth of all the mesenchymal elements, predominantly the fibroadipose tissue in a sclerotomal distribution commonly involving the median nerve territory in the upper extremity and plantar nerve territory in the lower extremity. It can be either static or progressive, with the former being the more common. MDL is usually present since birth and the affected digit/region increases in length and girth, and growth ceases after puberty. We discuss a rare case of ulnar nerve territory involvement that progressed to grow even after puberty. [ABSTRACT FROM AUTHOR]

Holt-Oram syndrome comprises a rare spectrum of congenital cardiovascular and appendicular skeletal anomalies. However, only a few cases have reported lung involvement in Holt-Oram syndrome. We reported the rare case of a 1-year-old male child patient who presented with upper limb abnormalities and respiratory distress and was diagnosed with pulmonary agenesis and pulmonary arterial hypertension secondary to an atrial septal defect. [ABSTRACT FROM AUTHOR]

To examine whether accelerometry can quantitate asymmetry of upper limb activity in infants aged 3–12 months at risk for developing unilateral spastic cerebral palsy (USCP). A prospective study was performed in 50 infants with unilateral perinatal brain injury at high risk of developing USCP. Triaxial accelerometers were worn on the ipsilateral and contralesional upper limb during the Hand Assessment for Infants (HAI). Infants were grouped in three age intervals (3–5 months, 5–7.5 months and 7.5 until 12 months). Each age interval group was divided in a group with and without asymmetrical hand function based on HAI cutoff values suggestive of USCP. In a total of 82 assessments, the asymmetry index for mean upper limb activity was higher in infants with asymmetrical hand function compared to infants with symmetrical hand function in all three age groups (ranging from 41 to 51% versus − 2–6%, p < 0.01), while the total activity of both upper limbs did not differ. Upper limb accelerometry can identify asymmetrical hand function in the upper limbs in infants with unilateral perinatal brain injury from 3 months onwards and is complementary to the Hand Assessment for Infants. [ABSTRACT FROM AUTHOR]

Introduction: Despite the prevalence of congenital limb deficiencies (CLDs) occurring in around 7.9/10,000 births (Am J Med Genet A. 2011;155A:1225-1235), there is still a gap in the knowledge regarding the etiology of a large proportion of cases, and literature addressing this topic is sparser compared with other conditions. Objective: The aim of this study is to assess the literature surrounding the causes of CLDs and use this to suggest the area in which a potential gap in the information on the causes of CLDs lies. Study Design: This study is a literature review on articles published from the year 2000 onward. Methods: A search was conducted on five databases (CINAHL, Scopus, PubMed, Embase, Cochrane Library) and the ProQuest platform resulting in 18 articles to be discussed, after inclusion and exclusion criteria were applied and critical appraisals were completed. Results and Discussion: The main findings could be separated into four themes including genetics, environment, drugs, and vascular. Comparisons were made among similar literature, although within some topics, this was less effective, given the specificity and reduced volume of research. Positive correlations were seen in all studies; however, the biggest underlying factor for most causes seemed to originate from a vascular disruption. Conclusions: Future studies should focus on an underlying vascular disruption as a base for further research to attempt to find reasoning for the proportion of CLDs with an unknown cause. Further attempts should be made into creating a consensus on classifying and recording CLDs to ensure a more uniform approach to this topic worldwide, allowing comparisons to be drawn more easily. Clinical Relevance: Understanding relevant terminology is vital to ensure that families experiencing CLD receive accurate information about their child's condition. This understanding will also lead to improvements in the quality of recorded data, such as clinical notes and registry inputs. [ABSTRACT FROM AUTHOR]

Producing triggers to switch between modes of myoelectric prosthetic hands has proven to be difficult. We evaluated whether digital training methods were feasible in individuals with an upper limb defect (ULD), whether myosignals in these individuals differ from those of non-impaired individuals and whether acquired skills transfer to prosthesis use. Two groups participated in a 9-day pre-test–post-test design study with seven 45-minute training sessions. One group trained using a serious game, the other with their myosignals digitally displayed. Both groups also trained using a prosthesis. The pre- and post-tests consisted of an adapted Clothespin Relocation Test and the spherical subset of the Southampton Hand Assessment Procedure. After the post-test, the System Usability Scale (SUS) was administered. Clinically relevant performance measures and myosignal features were analysed. Four individuals with a ULD participated. SUS-scores deemed both training methods feasible. Three participants produced only a few correct triggers. Myosignals features indicated larger variability for individuals with a ULD compared to non-impaired individuals (previously published data [1]). Three participants indicated transfer of skill. Even though both training methods were deemed feasible and most participants showed transfer, seven training sessions were insufficient to learn reliable switching behaviour. Trial registration: The study was approved by the medical ethics committee of the University Medical Center Groningen (METc 2018.268). Switching between pre-programmed modes of a myoelectric prosthetic hand can be learned, however it does require training. Serious games can be considered useful training tools for trigger production in early phases of myoelectric prosthesis control training. In order to evoke transfer of skill from training to daily life both task-specificity and focus of attention during training should be taken into account. [ABSTRACT FROM AUTHOR]

Introduction: To support clinicians who treat children with upper-limb differences, we must first understand how these children are treated around the world. Study Design: A descriptive survey was carried out in this study. Objectives: The aim was to describe how treatment for children with upper-limb difference is provided in different parts of the world. Methods: A web-based survey was used to gather data. The survey was shared on the Handsmart website, through providers and members using snowball sampling. Results: Sixty-eight respondents from 18 countries, with most being occupational therapists and prosthetists, participated. All respondents reported that they provide prosthetic treatment and most fit a passive prosthesis before 1 year of age. Respondents from 13 countries reported having governmental funding for the provision of care for people with upper-limb loss. Intervention is guided by the presentation of the limb as well as availability of funding and other resources. In 12 countries, no treatment other than fitting of prostheses is provided for the children. The children who do not receive a prosthesis continue to see an occupational or physical therapist for other treatment (other devices, follow-up). Respondents stated that they would like to see clear treatment guidelines used by multidisciplinary teams to fit children and that treatment should include regular follow-up. Conclusions: Children are treated differently in various parts of the world based on different funding, family support, and therapy resources. Further studies should encompass a geographically representative sample of children's clinics. Clinical Relevance: This study provides information regarding treatment practices for children with upper-limb loss/difference in various parts of the world; prosthetic treatment is common for children, although ages for fitting vary among clinics and countries. Results will contribute by supporting clinicians to provide better treatment for children with upper-limb loss/difference. [ABSTRACT FROM AUTHOR]

Thrombocytopenia-absent radius (TAR) syndrome is a rare congenital syndrome in which thrombocytopenia and the absence of radius can be accompanied by various organ anomalies. Bilateral phocomelia is the most severe form in this clinic. Thumbs are always present. The deletion of the RNA-binding motif protein 8A (RBM8A) gene on chromosome 1q21.1 in Array Comparative Genomic Hybridization confirms the diagnosis of TAR syndrome. Thrombocytopenia, which can cause complications, tends to resolve in the first year of life. Although there are delays in motor development, mental retardation is not one of the common clinical findings of this syndrome. In the differential diagnosis of severe radial defects, TAR syndrome, Holt-Oram syndrome, Roberts syndrome, Fanconi anemia, and VACTERL association are included. The presence of key findings of each syndrome is important in the differential diagnosis. Here, we aimed to evaluate the approach to the differential diagnosis of severe radial anomalies in a patient with TAR syndrome and neuromotor retardation. [ABSTRACT FROM AUTHOR]

Background: Cubital tunnel syndrome can be caused by overtraction and dynamic compression in elbow deformities. The extent to which elbow deformities contribute to ulnar nerve strain is unknown. Here, we investigated ulnar nerve strain caused by cubitus valgus/varus deformity using fresh-frozen cadavers.Methods: We used six fresh-frozen cadaver upper extremities. A strain gauge was placed on the ulnar nerve 2 cm proximal to the medial epicondyle of the humerus. For the elbow deformity model, osteotomy was performed at the distal humerus, and plate fixation was performed to create cubitus valgus/varus deformities (10°, 20°, and 30°). Ulnar nerve strain caused by elbow flexion (0-125°) was measured in both the normal and deformity models. The strains at different elbow flexion angles within each model were compared, and the strains at elbow extension and at maximum elbow flexion were compared between the normal model and each elbow deformity model. However, in the cubitus varus model, the ulnar nerve deflected more than the measurable range of the strain gauge; elbow flexion of 60° or more were considered effective values. Statistical analysis of the strain values was performed with Friedman test, followed by the Williams' test (the Shirley‒Williams' test for non-parametric analysis).Results: In all models, ulnar nerve strain increased significantly from elbow extension to maximal flexion (control: 13.2%; cubitus valgus 10°: 13.6%; cubitus valgus 20°: 13.5%; cubitus valgus 30°: 12.2%; cubitus varus 10°: 8.3%; cubitus varus 20°: 8.2%; cubitus varus 30°: 6.3%, P < 0.001). The control and cubitus valgus models had similar values, but the cubitus varus models revealed that this deformity caused ulnar nerve relaxation.Conclusions: Ulnar nerve strain significantly increased during elbow flexion. No significant increase in strain 2 cm proximal to the medial epicondyle was observed in the cubitus valgus model. Major changes may have been observed in the measurement behind the medial epicondyle. In the cubitus varus model, the ulnar nerve was relaxed during elbow extension, but this effect was reduced by elbow flexion. [ABSTRACT FROM AUTHOR]

PURPOSE: Young adults with transversal upper limb reduction deficiency experience limitations regarding education, employment and obtaining a driver's license. Contribution of rehabilitation care within these domains has been reported to be inadequate. This study evaluates the needs and suggestions of participants in rehabilitation care. METHODS: Two online focus groups with young adults and parents met during 4 consecutive days. Health care professionals joined a face-to-face focus group. Data analysis was based on framework analysis. RESULTS: The rehabilitation team was mainly consulted for problems with residual limb or for prostheses. Young adults and their parents were mostly unaware of resources regarding education, job selection or obtaining a driver's license. Professionals stated that these subjects were addressed during periodic appointments. Young adults didn't always attend these appointments due to limited perceived benefit. To improve rehabilitation care, participants suggested methods for providing relevant information, facilitating peer contact and offering dedicated training programs to practice work-related tasks, prepare for job interviews or enhance self-confidence. CONCLUSION: Periodic appointments do not fulfil needs of young adults with transversal upper limb reduction deficiency. To improve care, rehabilitation teams should offer age-relevant information, share peer stories, and create dedicated training programs. [ABSTRACT FROM AUTHOR]

Background: Individual weaknesses in motor skills are a characteristic of children with congenital upper limb deficiencies. These weaknesses increase with age. In Japan, however, prosthetic prescription and subsequent rehabilitation approaches for children with upper limb deficiencies are insufficient and often delayed. This study aimed to elucidate whether rehabilitation approaches, including prostheses prescription and occupational therapy, improve these children's adaptive behaviors, especially their motor skills. Methods: The study included nine children, aged 0–6 years, with unilateral transradial or transcarpal upper limb deficiencies. We measured their adaptive behaviors and motor skills at the beginning of prosthetic therapy and after 1.5 years, using the Vineland Adaptive Behavior Scales – Second Edition. Results: The score for the motor skills domain was significantly lower than the median score of the domains at the beginning of prosthetic therapy. The motor skill weaknesses significantly improved after 1.5 years of prosthetic therapy. Conclusions: Although children with congenital upper limb deficiencies have individual weaknesses in their motor skill behavior, it was shown that these weaknesses can be improved through rehabilitation approaches, including occupational and prosthetic therapies. Issuing the appropriate prostheses and implementing the appropriate training to use the prostheses for congenital upper limb deficiencies are reasonable and meaningful interventions to improve quality of life. [ABSTRACT FROM AUTHOR]

Purpose: Rehabilitative care for children with limb difference often includes the provision and use of an artificial (or prosthetic) limb. Of key influence in this process is how parents experience and respond to their child's limb difference and prosthesis use. However, research on this is lacking. Therefore, this study aimed to explore the experiences of parenting a child with limb difference who had been provided with an artificial limb. Design: Semi-structured interviews took place with seven parents. Interview data was recorded, transcribed and analyzed using interpretative phenomenological analysis. Results: The analysis identified four themes: (1) managing the initial emotional experience through the development of coping resources; (2) opportunities through prosthesis use and its relationship with "normality"; (3) managing and making sense of social reactions toward their child; (4) the intrinsic role of support: developing a collective connection and enabling shared knowledge. Conclusions: The study highlighted salient aspects to parents' experiences and sense-making that can inform clinical support. Emotional support, the management of social responses, and the holistic co-ordination of healthcare support with peer support networks are discussed. Healthcare professionals involved in the prosthetic rehabilitation process should look to explore these meanings to help support the management of the child's prosthesis use. Understanding the sense-making of parents is important in effective service provision for children with limb difference. Service provision for children with limb difference should consider the support needs of parents. Working with limb difference charities and voluntary organizations could help services develop needed parent-to-parent support networks. [ABSTRACT FROM AUTHOR]

Holt--Oram syndrome (HOS) (OMIM#142900) is a rare condition with upper extremity malformations as well as structural and conduction cardiac anomalies. There are sparse reports in the literature documenting malignancy in association with HOS. We report a pediatric patient clinically diagnosed with HOS (missing thumbs bilaterally, atrial septal defect, ventricular septal defect, and first-degree heart block), who also developed B precursor acute lymphoblastic leukemia. During induction of chemotherapy with steroids, she developed profound bradycardia without clinical symptoms. The bradycardia resolved without intervention, but this case highlights the challenges of managing chemotherapy side effects in a patient with congenital heart disease. A literature review pertinent to the associated findings in the case is also presented. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]