Developing a Novel Prosthetic Hand with Wireless Wearable Sensor Technology Based on User Perspectives: A Pilot Study.

Myoelectric hands are beneficial tools in the daily activities of people with upper-limb deficiencies. Because traditional myoelectric hands rely on detecting muscle activity in residual limbs, they are not suitable for individuals with short stumps or paralyzed limbs. Therefore, we developed a novel electric prosthetic hand that functions without myoelectricity, utilizing wearable wireless sensor technology for control. As a preliminary evaluation, our prototype hand with wireless button sensors was compared with a conventional myoelectric hand (Ottobock). Ten healthy therapists were enrolled in this study. The hands were fixed to their forearms, myoelectric hand muscle activity sensors were attached to the wrist extensor and flexor muscles, and wireless button sensors for the prostheses were attached to each user's trunk. Clinical evaluations were performed using the Simple Test for Evaluating Hand Function and the Action Research Arm Test. The fatigue degree was evaluated using the modified Borg scale before and after the tests. While no statistically significant differences were observed between the two hands across the tests, the change in the Borg scale was notably smaller for our prosthetic hand (p = 0.045). Compared with the Ottobock hand, the proposed hand prosthesis has potential for widespread applications in people with upper-limb deficiencies.

Isolated Bilateral Upper Limb Amelia - A Rare Case Report.

Introduction: Congenital upper limb amelia is one of the extremely rare conditions. It is defined as a complete absence of upper limbs. It may present as isolated or with other associated anomalies. Case Report: We present a case of a 2-year-old male child with congenital complete absence of bilateral upper limb. This male child was born after four female children. With the advancement in modern-era prenatal diagnostic facilities and a better understanding of fetal-maternal drug pharmacology, such cases are rare entity. Conclusion: Amelia is a very rare and challenging situation for clinicians. Regular prenatal checkup and knowledge of maternal and fetal drug interactions during pregnancy are key factors for prevention.

Rehabilitation and functional outcomes for thoraco-omphalo-ischiopagus conjoined twins five years after separation: A case report.

Conjoined twins are identical twins joined in utero and are a rare phenomenon. This report discusses a case of female thoraco-omphalo-ischiopagus tripus conjoined twins. The twins were separated at age two, and once medically stable, spent one month in inpatient rehabilitation to improve their sitting balance and gross motor skills. This was followed by outpatient physical therapy. The twins initially had customized ZipZac seats, which they were able to wheel independently. After six months of therapy, the girls began walking with posterior walkers and prostheses. The hemipelvectomy prosthesis included a customized thoracolumbosacral orthosis component and was directly attached to a non-articulated pylon. A manual-locking hip joint was added to accommodate sitting. An articulated ankle-foot orthosis was used for the intact leg. Care of formerly conjoined twins requires comprehensive care from a multidisciplinary team involving, but not limited to, a physiatrist, orthopaedic surgeon, physical therapist, and orthotist/prosthetist. Complex congenital limb deficiencies are often a major undertaking for the rehabilitation team as continuous treatment and management are needed throughout the patient's lifetime due to growth, development, and evolving physical demands. Anatomic variations must be examined on a case-by-case basis but often include limb deficiencies, orthopedic abnormalities, and organ comorbidities.

Surgical Technique for Varus Deformity Correction of Below-Knee Stump in a Paediatric Patient.

Paediatric amputation is one of the treatment options for various indications, namely, trauma, infection, tumour and congenital problems, and some may be born with congenital problems. It differs from adult amputation as they have higher physical demands, and special complications may arise. Stump overgrowth by far is the commonest complication in paediatric transosseous amputation, while varus deformity of the tibia stump was reported sparsely in the literature. The growth discrepancy of the proximal tibia and fibula physis coupled with distal tibiofibular synostosis may have resulted in proximal migration of the fibula, which later resulted in varus deformity of the stump. This will cause difficulty in prosthesis fitting and lead to painful stumps due to the pressure at the abnormal bony prominence. We report a case of congenital limb deficiencies in a 12-year-old male who was treated with below-knee amputation (BKA) and experienced progressive varus deformity of the stump that caused pain during prosthetic wear, which interfered with his gait. He had a varus deformity of 15 degrees of the stump, distal tibiofibular synostosis and proximal migration of the fibula head. As the conservative management by modification of the prosthesis had failed, he underwent open wedge proximal tibia corrective osteotomy, division of the synostosis and reduction of the fibula head. The surgical intervention was successful in alleviating his problem. All efforts must be made to ensure optimum prosthetic fitting in paediatric amputation patients to maintain the patient's daily lifestyle and activities.

Incidence of congenital complications related to COVID-19 infection during pregnancy.

PURPOSE: Infection with COVID-19 during pregnancy has been associated with a hypercoagulable state. It is unknown if maternal COVID-19 infection results in congenital anomalies secondary to intrauterine vascular accidents. This study sought to determine if the rate of in-utero vascular complications (intestinal atresia and limb abnormalities) that may be attributable to the hypercoagulable states associated with COVID-19 and pregnancy increased after the onset of the pandemic. METHODS: Pregnancy, neonatal, and congenital defect data from a single academic medical center and the partner's children's hospital were collected and compared to the period prior to onset of the pandemic. A subanalysis including pregnant woman 18 years or greater with documented COVID-19 infection during gestation between March 2020-2021 was performed. RESULTS: Rates of intestinal atresia did not differ prior to or after the onset of the pandemic (3.78% vs 7.23%, p = 0.21) nor did rates of limb deficiency disorders (4.41% vs 9.65%, p = 0.09). On subanalysis, there were 194 women with COVID-19 infection included in analysis: 135 (69.6%) were positive during delivery admission and 59 (30.4%) were positive earlier in their pregnancy. There was one infant born with intestinal atresia. CONCLUSION: We report a low incidence of congenital anomalies in infants born to mothers with COVID-19 infection. It remains unclear if the impact of COVID-19 on the coagulative state augments the normal pro-thrombotic state of pregnancy; ongoing surveillance is warranted.

Introduction to Limb Deficiency for the Pediatrician.

Owing to the lack of trained professionals in amputee care, the pediatrician is often required to assist in the care of children with limb deficiencies. An overview of the causes and epidemiology of limb deficiency is provided, as well as an evaluation and diagnostic workup. Important considerations for surgical interventions are discussed and an introduction to prosthetic prescribing and care of the amputee is described. Common overuse syndromes and mental health issues are also reviewed. Finally, resources for funding of prosthetic devices, as well as support and education for clinicians and families are provided.

Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome.

Fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome (MIM 246570) is a rare disorder characterized by specific skeletal findings (fibular aplasia, shortened or bowed tibia, and oligosyndactyly of the foot and/or hand). Typically, no other anomalies, craniofacial dysmorphism, or developmental delays are associated. Here we report three unrelated individuals with limb anomalies consistent with FATCO syndrome who have been followed clinically for 5 years. Genetic testing of previously reported individuals with FATCO syndrome has not revealed a genetic diagnosis. However, no broader sequencing approaches have been reported. We describe the results of the three individuals with FATCO syndrome from exome and genome sequencing, all of which was nondiagnostic. Our study suggests that FATCO syndrome is not the result of a simple monogenic etiology.

Prevalence of Phantom Phenomena in Congenital and Early-Life Amputees.

Phantom limb pain (PLP) is a common consequence of the amputation of a limb. Persons with congenital limb absence (congenital amputees) or an acquired limb amputation at an early age seem to rarely experience PLP. However, the number of available studies and their sample sizes are low. In the present cross-sectional study, we assessed the presence of several phantom phenomena in a sample of 99 adult unilateral congenital amputees (con) of whom 34 had a limb correction later in life (limbc) and 153 adult participants with a unilateral amputation before the age of 6 years (subgroups: amputation between birth and 2 years (0-2y; n = 48), 3-4 years (3-4y; n = 46), and 5 to 6 years (5-6y; n = 59)). We found a higher prevalence and intensity of PLP in the 5-6y group compared to the other groups. Residual limb pain (RLP) intensity was higher in the 3 to 4 y and 5 to 6 y groups compared to the con group. Non-painful phantom limb sensation (PLS) intensity and telescoping intensity were higher in the 5 to 6 y group compared to the con and 0 to 2 y groups. Our results indicate that PLP prevalence as well as intensity is low when the limb loss happened before the age of 5 years. PERSPECTIVE: The prevalence of phantom limb pain, residual limb pain, and non-painful phantom limb sensation in congenital amputees and participants with an amputation early in life is low. This might be due to the missing or reduced nociceptive input from the residual limb to the brain and higher development-associated adaptability of the somatosensory system.

Participation in sports of Dutch children with lower limb deficiencies.

PURPOSE: The primary aim was to describe sports participation of Dutch children and adolescents with lower limb deficiencies (LLD). The secondary aim was to explore perceived limitations concerning sports participation. METHODS: A total of 103 children and adolescents with LLD, aged 8-18 years (mean 11.7 years), were asked about their sports participation using a study-specific self-report questionnaire. RESULTS: Children and adolescents with LLD frequently (78%) participated in sports activities, and most of them (68%) participated in the sport of their preference. Just over half of all children (52%) perceived an inability to participate in specific sports. Physical performance (running) and endurance were mentioned as the most limiting factors in participating in certain sports. CONCLUSION: Children and adolescents with LLD in the Netherlands participate in a variety of sports. Despite dependency on lower limb prostheses in most cases, children and adolescents with LLD have a high potentiality of participating in sports.

Novel Use of a Shoulder Spica: Treatment for Midshaft Humerus Fracture in the Presence of Limb Deficiency.

Pediatric midshaft humerus fractures are typically managed with a hanging arm cast, Sarmiento bracing, coaptation splint, or a combination of these treatment options. Here we report a novel use of a shoulder spica cast in the treatment of a midshaft humerus fracture in the presence of limb deficiency. Current treatments proved unsuccessful in maintaining adequate alignment, specifically the varus deformity of the fracture. A shoulder spica was able to successfully maintain acceptable alignment throughout the duration of the patient's healing process. This nontraditional use of a shoulder spica cast shows the practicality of its ability to be utilized for the treatment of unique upper extremity orthopedic obstacles.

A rehabilitation protocol for the use of a 3D-printed prosthetic hand in pediatrics: A case report.

INTRODUCTION AND PURPOSE: The purpose of this study was to evaluate the outcomes of utilizing a 3D prosthetic device with a home exercise program. This case study was intended to see if the application of a home exercise program utilizing a 3D printed prosthetic hand resulted in increased range of motion, strength, coordination, sensory integration, and perceived function of the upper extremity. STUDY DESIGN: Case Study METHODS: This study outlines one rehabilitation protocol for a 6-year-old boy with right congenital upper limb deficiency. A 4-week home rehabilitation protocol was utilized with a 3D printed prosthetic hand. Pre-assessment measurements were taken of range of motion, strength testing, BOT-2 coordination, and a sensory questionnaire. The home program included ROM exercises, body-powered use of the 3D printed device, strengthening without the device and sensory integration exercises. The frequency of the protocol was 3 times per week for 30 minutes with adult supervision. RESULTS: Improvements were seen in range of motion, strength, coordination, and sensory integration. Results demonstrated improved right upper extremity strength with all movements except radial deviation. Range of motion improved with passive and active wrist flexion, extension, and forearm pronation. Sensory integration questionnaires showed decreased sensory sensitivities. A structured home exercise program with and without a 3D printed hand improved upper extremity function in this population. DISCUSSION: Evaluating the outcomes of a home rehabilitation protocol for a child using a 3D printed hand was successful. The studies evidence will help guide treatment and clinical decision making for future studies.

Associations between maternal reports of periconceptional fever from miscellaneous causes and structural birth defects.

BACKGROUND: Associations between birth defects and fevers attributed to colds, influenza, and urinary tract infections (UTIs) have been observed in previous studies. Our aim was to study associations between birth defects and fevers attributed to other causes. METHODS: We analyzed data from 34,862 participants in the National Birth Defects Prevention Study, a multistate case-control study of major structural birth defects. Using multivariable logistic regression, we assessed the association between maternal report of fever during early pregnancy due to causes other than colds, influenza, or UTI and 36 categories of birth defects. RESULTS: Maternal reports of fever due to other causes were associated with significantly elevated odds ratios ranging from 1.93 to 10.60 for 8 of 36 birth defects, primarily involving the spine, limbs, and heart (spina bifida, intestinal atresia, intercalary limb deficiency, transverse limb deficiency, congenital heart defect with heterotaxy, tetralogy of Fallot, pulmonary atresia and atrial septal defect, not otherwise specified). CONCLUSION: Our data suggests fever itself or other physiologic changes associated with many infections are associated with some birth defects. Women who are pregnant or planning to become pregnant may want to consider speaking with their healthcare provider about the best ways to avoid infections that may cause fever and for guidance on how to treat fevers during pregnancy.

Novel bilateral symmetrical congenital transverse upper and lower limb deficiencies in siblings in Ethiopia: two case reports.

BACKGROUND: Transverse congenital limb deficiency is a common limb deficiency where there is normal limb development until a certain point, beyond which no anatomical structure exists. Typically, this presents as an isolated and spontaneous abnormality as a result of arrest during limb bud development. Transverse bilateral deficiency in both upper and lower limbs is not well described. CASE PRESENTATION: We report the cases of two female Ethiopian amhara siblings, aged 6 years and 5 months, respectively, from Ethiopia with similar transverse bilateral upper and lower limb deficiencies. The sisters were born from the same parents and have similar phenotypic presentations. Neither of them have other syndromic features or systemic manifestations. The siblings are currently on follow-up and are receiving assistance by specialist orthotists, who are working to improve walking and also providing adaptive equipment to facilitate self-care and feeding. CONCLUSION: The relationship of the patients and the similarity of phenotypical presentations suggests a strong genetic link.

Hypothesis: Central digit hypoplasia.

Limb deficiencies are a common birth defect. A malformations surveillance program among many newborns, stillborn fetuses, and malformed fetuses in elective terminations can identify a sufficient number of infants with the same set of abnormalities to characterize a specific limb deficiency phenotype. The active malformations surveillance program was carried out among 289,365 births at Brigham and Women's Hospital in Boston over a 41-year period (1972-2012). The research assistants identified the affected infants and fetuses from reading the findings recorded in each newborn's medical record by the examining pediatricians and consultants and by the pathologists in autopsies. One hundred ninety-four newborn infants and fetuses were found to have a limb deficiency either as an isolated abnormality or as one of multiple malformations. We identified three phenotypes of limb deficiency. We present here the seventeen infants and fetuses with "central digit hypoplasia," a term we suggest for this phenotype: hypoplasia of the thumb and fifth finger with nubbins of soft tissue in place of fingers 2, 3, and 4 at the level of the metacarpal-phalangeal joint. Central digit hypoplasia is to be distinguished primarily from the terminal transverse limb defect that ends at the wrist. In symbrachydactyly, the middle and distal phalanges of the fingers and toes are hypoplastic. In addition, central digit hypoplasia should be distinguished from the amniotic band syndrome, the most common and incorrect diagnosis suggested by the pediatricians and the consultants in this survey. The affected infant and her/his parents benefit from more accurate and specific counseling.

Physical performance of children with longitudinal fibular deficiency (fibular hemimelia).

PURPOSE: Longitudinal fibular deficiency (LFD) is the most common congenital long bone deficiency. This study aimed to objectively assess the physical performance of children and adolescents with LFD compared with unaffected peers, and to examine trends over age for subgroups of the LFD population. METHODS: Differences between children with LFD and unaffected peers were examined with hand-held dynamometry for lower-limb muscle strength, Six-Minute Walk Test, Timed up and down stairs test, Star Excursion Balance Test, and Standing long jump. RESULTS: Thirty-nine children with LFD and 284 unaffected peers participated. Children with LFD performed at a lower level than their unaffected peers, on all measures of physical performance (mean 2.1 z-scores lower, all p < 0.01), except in long jump (p = 0.27). When comparing the performance of children with LFD to their unaffected peers across four age groups, there was a significant between-groups difference on all strength measures, and on the Six-Minute Walk distance, between children with and without LFD. These differences were smallest in young children (3-6 years) and largest in the older children (15-18 years) (all p < 0.01). Children with no lengthening surgery performed better on the Six-Minute Walk Test, covering a greater distance during the test, than those who had surgery (mean difference 83 metres, p < 0.01). There were no significant differences between children who had or had not undergone an amputation. CONCLUSIONS: Children with LFD performed at a significantly lower level than unaffected peers on all measures of physical performance other than jumping. The largest differences were in older children. This paper provides baseline functional data for future interventions in LFD. LEVEL OF EVIDENCE: Cross-sectional study.Implications for RehabilitationThis paper provides the first baseline functional data using validated objective measures on a consecutive cohort of children and adolescents with longitudinal fibular deficiency.Children with LFD performed significantly worse than their unaffected peers on all measures of physical performance other than jumping, with children falling further behind their peers as they age.Children who undergo an amputation typically have the most severe anatomical presentation and yet perform at an equivalent functional level.This paper identifies multiple modifiable impairments that represent potential opportunities for rehabilitation professionals to target with conservative treatment options to improve functional performance.

Evaluating the Ability of Congenital Upper Extremity Amputees to Control a Multi-Degree of Freedom Myoelectric Prosthesis.

PURPOSE: To determine whether children and adults with unilateral congenital upper limb amputation can control myoelectric prostheses with multiple degrees of freedom (DOF) using pattern recognition (PR) technology. METHODS: Seven participants (age 9-62 years) with unilateral congenital transradial amputation were tested on both their residual and sound side limbs to determine proficiency in controlling a virtual prosthesis using electromyographic signals captured by an array of surface electrodes that were processed using PR technology. Proficiency was measured through a virtual environment game called the target achievement control test, in which the testing protocol asked participants to match increasingly complex prosthesis postures with 1, 2, and 3 DOF. RESULTS: All the participants successfully created a PR calibration at 1, 2, and 3 DOF with their residual limb during testing, and no differences in calibration accuracy were observed when comparing the residual versus sound upper limbs. No differences were noted in the mean completion rate on the target achievement control test between the residual and sound limbs. CONCLUSIONS: Participants with a congenital upper limb amputation achieved PR control calibration of multi-DOF prostheses with proficiency and quality results of PR calibration that were comparable to those of their sound limb. This capability was observed in children as well as in adults. This demonstrates the potential for children and adults with a unilateral congenital transradial amputation to benefit from myoelectric prostheses with PR control. CLINICAL RELEVANCE: The results from this study highlight the potential for patients in this population to benefit from myoelectric prostheses with PR control. Persons with unilateral congenital upper limb amputations can be considered for provision of this technology and enrollment in future research activities.

A homozygous ROR2 variant in a family with atypical Robinow syndrome and tetramelic transverse deficiency of autopods.

We present five members of a consanguineous Pakistani kinship with the most severe familial tetramelic transverse autopod deficiency reported to date and additionally having some of the common autosomal recessive Robinow syndrome-1 (RRS1) features including short stature, short neck, severe vertebral anomalies of kyphoscoliosis, hemivertebrae, fusion of thoracic vertebrae, broad forehead, and dental crowding. We mapped the locus of this atypical RRS and detected homozygous 8-nucleotide deletion c.1353_1360del (p.(Met452Alafs*4)) in ROR2, the gene responsible for RRS1. We did not find any other variant shared by all affected individuals that could possibly act as a modifier of limb defect. Autopods are affected in RRS1, but severe autopod deficiency is not a characteristic feature. Over 30 biallelic variants dispersed throughout the gene are known in ROR2-related RS, with no genotype-phenotype correlation for specific RRS1 features. Considering together with the sporadic case homozygous for variant p.(Arg442*) and the case homozygous for p.(Arg441Thrfs*16) in a family where heterozygous members have brachydactyly type B1, we propose that homozygous truncating variants that originate at residues 441-452 can cause severe autopod reduction anomalies, suggesting some genotype-phenotype correlation for this particular phenotype.

Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms.

Congenital limb deficiency (CLD), one of the most common congenital anomalies, is characterized by hypoplasia/aplasia of one or more limb bones and can be isolated or syndromic. The etiology in CLD is heterogeneous, including environmental and genetic factors. A fraction remains with no etiological factor identified. We report the study of 44 Brazilian individuals presenting isolated or syndromic CLD, mainly with longitudinal defects. Genetic investigation included particularly next-generation sequencing (NGS) and/or chromosomal microarray. The overall diagnostic yield was 45.7%, ranging from 60.9% in the syndromic to 16.7% in the non-syndromic group. In TAR syndrome, a common variant in 3´UTR of RBM8A, in trans with 1q21.1 microdeletion, was detected, corroborating the importance of this recently reported variant in individuals of African ancestry. NGS established a diagnosis in three individuals in syndromes recently reported or still under delineation (an acrofacial dysostosis, Coats plus and Verheij syndromes), suggesting a broader phenotypic spectrum in these disorders. Although a low rate of molecular detection in non-syndromic forms was observed, it is still possible that variants in non-coding regions and small CNVs, not detected by the techniques applied in this study, could play a role in the etiology of CLD.

Development of the gait outcomes assessment list for lower-limb differences (GOAL-LD) questionnaire: a child and parent reported outcome measure.

BACKGROUND: To develop a priority-based patient/parent reported outcome measure for children with lower-limb differences (LD) by adapting the Gait Outcomes Assessment List (GOAL) questionnaire. METHODS: Guided by a conceptual framework of patient priorities, the GOAL questionnaire was iteratively modified and its sensibility evaluated by field-testing it on children with LD, and their parents. Cognitive interviews were conducted with a subgroup of these children, and an e-survey administered to a multidisciplinary group of health care professionals with expertise in paediatric LD. Findings were integrated to create the final version of the GOAL-LD. RESULTS: Twenty-five children (9-18 years), 20 parents, and 31 healthcare professionals evaluated the content and sensibility of the GOAL, with an emphasis on the relevance and importance of the items to patients' health related quality of life (HRQL). This resulted in the retention of 26 of the original 50 items, elimination of 12, modification of 12, and addition of seven new items. The new 45-item GOAL-LD questionnaire was shown to be sensible, and its content deemed important. CONCLUSIONS: The GOAL-LD questionnaire has a high level of face and content validity, and sensibility. It comprehensively captures the HRQL goals and outcomes that matter to children with LD and their parents. Following further psychometric evaluation, the GOAL-LD may serve as a much needed patient and parent reported outcome measure for this population.

How Children with Congenital Limb Deficiencies Visually Attend to Their Limbs and Prostheses: Eye Tracking of Displayed Still Images and Visuospatial Body Knowledge.

Purpose: This study aimed to clarify how children with congenital limb deficiencies visually attend to their bodies, particularly their limbs and prostheses.Methods: Participants included children with and without congenital limb deficiencies. They were shown photographs of themselves and their visual attention was measured using an eye tracker.Results: Six children with lower limb deficiencies (age [mean ± SD]: 8.8 ± 2.9; 2 girls and 4 boys), six children with upper limb deficiencies (age: 7.0 ± 2.3; 2 girls and 4 boys), and ten control children (age: 7.7 ± 1.9; 5 girls and 5 boys) were included. Children with congenital upper/lower limb deficiencies looked at their upper/lower limbs as often or more than the control children. Prompts to direct their visual attention to their limbs had limited efficacy.Conclusions: To improve the body knowledge of limbs, approaches other than visual recognition prompting, such as improving linguistic understanding, might be considered.