Brain lateralization in children with upper-limb reduction deficiency.

BACKGROUND: The purpose of the current study was to determine the influence of upper-limb prostheses on brain activity and gross dexterity in children with congenital unilateral upper-limb reduction deficiencies (ULD) compared to typically developing children (TD). METHODS: Five children with ULD (3 boys, 2 girls, 8.76 ± 3.37 years of age) and five age- and sex-matched TD children (3 boys, 2 girls, 8.96 ± 3.23 years of age) performed a gross manual dexterity task (Box and Block Test) while measuring brain activity (functional near-infrared spectroscopy; fNIRS). RESULTS: There were no significant differences (p = 0.948) in gross dexterity performance between the ULD group with prosthesis (7.23 ± 3.37 blocks per minute) and TD group with the prosthetic simulator (7.63 ± 5.61 blocks per minute). However, there was a significant (p = 0.001) difference in Laterality Index (LI) between the ULD group with prosthesis (LI = - 0.2888 ± 0.0205) and TD group with simulator (LI = 0.0504 ± 0.0296) showing in a significant ipsilateral control for the ULD group. Thus, the major finding of the present investigation was that children with ULD, unlike the control group, showed significant activation in the ipsilateral motor cortex on the non-preferred side using a prosthesis during a gross manual dexterity task. CONCLUSIONS: This ipsilateral response may be a compensation strategy in which the existing cortical representations of the non-affected (preferred) side are been used by the affected (non-preferred) side to operate the prosthesis. This study is the first to report altered lateralization in children with ULD while using a prosthesis. Trial registration The clinical trial (ClinicalTrial.gov ID: NCT04110730 and unique protocol ID: IRB # 614-16-FB) was registered on October 1, 2019 ( https://clinicaltrials.gov/ct2/show/NCT04110730 ) and posted on October 1, 2019. The study start date was January 10, 2020. The first participant was enrolled on January 14, 2020, and the trial is scheduled to be completed by August 23, 2023. The trial was updated January 18, 2020 and is currently recruiting.

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.

Upper extremity anomalies in children with femoral and fibular deficiency.

Defects occurring in the femoral-fibular-ulnar developmental field are believed to cause the cluster of anomalies seen with femoral, fibular and ulnar limb deficiencies. Upper limb function must be considered in the management of lower limb deficiencies. The purpose of this study is to determine the frequency and type of upper extremity anomalies found in children with femoral and/or fibular deficiency. A retrospective review of 327 consecutive patients with the diagnosis of femoral and/or fibular deficiency was performed using existing records and radiographs. Characteristics of those with and without upper extremity anomalies were compared. Upper extremity anomalies were identified in 56 patients. They were more common among those with bilateral, compared with unilateral, lower extremity deficiencies (P < 0.0001). Seventy-five upper limbs were involved with 50 ulnar deficiencies, nine congenital transhumeral deficiencies, four congenital shoulder disarticulations, seven cleft hands, two radial head dislocations and one each - radial deficiency, syndactyly and capitate-lunate coalition. Two patients with bilateral upper extremity anomalies had ulnar deficiency on one side and a transverse deficiency on the other. Upper extremity anomalies are found in 17% of children with femoral and/or fibular deficiency, especially with bilateral lower extremity involvement. Ulnar deficiency is the most common type but one-third had other anomalies. The frequent finding of congenital transverse upper extremity deficiencies suggests there may be common embryology.

Thrombocytopenia with absent radii (TAR) syndrome in a female neonate: a case report.

Thrombocytopenia absent radius (TAR) syndrome is a rare congenital disorder that is consistently associated with skeletal abnormality and thrombocytopenic haemorrhage. This is a case of a neonate with bilateral absent radius and thrombocytopenia. The rarity of this case prompted this report.

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.

Plasticity based on compensatory effector use in the association but not primary sensorimotor cortex of people born without hands.

What forces direct brain organization and its plasticity? When brain regions are deprived of their input, which regions reorganize based on compensation for the disability and experience, and which regions show topographically constrained plasticity? People born without hands activate their primary sensorimotor hand region while moving body parts used to compensate for this disability (e.g., their feet). This was taken to suggest a neural organization based on functions, such as performing manual-like dexterous actions, rather than on body parts, in primary sensorimotor cortex. We tested the selectivity for the compensatory body parts in the primary and association sensorimotor cortex of people born without hands (dysplasic individuals). Despite clear compensatory foot use, the primary sensorimotor hand area in the dysplasic subjects showed preference for adjacent body parts that are not compensatorily used as effectors. This suggests that function-based organization, proposed for congenital blindness and deafness, does not apply to the primary sensorimotor cortex deprivation in dysplasia. These findings stress the roles of neuroanatomical constraints like topographical proximity and connectivity in determining the functional development of primary cortex even in extreme, congenital deprivation. In contrast, increased and selective foot movement preference was found in dysplasics' association cortex in the inferior parietal lobule. This suggests that the typical motor selectivity of this region for manual actions may correspond to high-level action representations that are effector-invariant. These findings reveal limitations to compensatory plasticity and experience in modifying brain organization of early topographical cortex compared with association cortices driven by function-based organization.

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.

Sensorimotor-independent development of hands and tools selectivity in the visual cortex.

The visual occipito-temporal cortex is composed of several distinct regions specialized in the identification of different object kinds such as tools and bodies. Its organization appears to reflect not only the visual characteristics of the inputs but also the behavior that can be achieved with them. For example, there are spatially overlapping responses for viewing hands and tools, which is likely due to their common role in object-directed actions. How dependent is occipito-temporal cortex organization on object manipulation and motor experience? To investigate this question, we studied five individuals born without hands (individuals with upper limb dysplasia), who use tools with their feet. Using fMRI, we found the typical selective hand-tool overlap (HTO) not only in typically developed control participants but also in four of the five dysplasics. Functional connectivity of the HTO in the dysplasics also showed a largely similar pattern as in the controls. The preservation of functional organization in the dysplasics suggests that occipito-temporal cortex specialization is driven largely by inherited connectivity constraints that do not require sensorimotor experience. These findings complement discoveries of intact functional organization of the occipito-temporal cortex in people born blind, supporting an organization largely independent of any one specific sensory or motor experience.

The origin of the biomechanical bias in apparent body movement perception.

The perception of apparent body movement sometimes follows biologically plausible paths rather than paths along the shortest distance as in the case for inanimate objects. For numerous authors, this demonstrates that the somatosensory and motor representations of the observer's own body support and constrain the perception of others' body movements. In this paper, we report evidence that calls for a re-examination of this account. We presented an apparent upper limb movement perception task to typically developed participants and five individuals born without upper limbs who were, therefore, totally deprived of somatosensory or motor representations of those limbs. Like the typically developed participants, they showed the typical bias toward long and biomechanically plausible path. This finding suggests that the computations underlying the biomechanical bias in apparent body movement perception is intrinsic to the visual system.

Left Ventricular Non-compaction in Holt-Oram Syndrome.

Holt-Oram Syndrome is an autosomal dominant condition with complete penetrance and which involves upper limb skeletal and cardiac abnormalities. The latter can be structural defects or involve the conduction system. This report details the occurrence of left ventricular non-compaction in multiple family members with Holt-Oram Syndrome. It is recommended that patients with the Holt-Oram Syndrome be considered for comprehensive cardiac evaluation to exclude non-compaction cardiomyopathy as this may have significant prognostic implications.

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.

Formation of a physiological reverse shoulder joint.

Congenital shoulder deformities are rarely seen in orthopaedic practice. Proximal humeral defects and glenoid hypoplasia have been reported separately in the literature. We present a case involving a 31-year-old woman having a cosmetic problem with her upper arm who was diagnosed with reverse shoulder joint deformity. This article presents the clinical, radiological and biomechanical findings of a physiological reverse shoulder joint. This is the first such reported case.

Inherited thrombocytopenias: an approach to diagnosis and management.

Inherited thrombocytopenias vary in their presentation, associated features, and molecular etiologies. An accurate diagnosis is important to provide appropriate therapy as well as counseling for the individual and their family members. As the genetic basis of more disorders is understood, it will be possible to diagnose a greater fraction of patients as well as learn more about the process of megakaryopoiesis and platelet production.

Body structures and physical complaints in upper limb reduction deficiency: a 24-year follow-up study.

OBJECTIVE: To describe upper body structures associated with upper limb reduction deficiency and the development of these structures over time, to examine the presence of physical complaints in this population, and to compare body structures and complaints between groups based on prosthesis use. DESIGN: Prospective cohort study with a follow-up period of 24 years, with matched able-bodied controls. SUBJECTS: Twenty-eight patients with unilateral below-elbow reduction deficiency fitted with myoelectric prostheses, aged 8-18 years at inclusion. METHOD: Measurements of upper arm, trunk and spine were performed and study-specific questionnaires were answered at baseline and follow-up; the Brief Pain Inventory and the Quick Disability of Arm, Shoulder, and Hand questionnaires were answered at follow-up. RESULTS: Both at baseline and follow-up, within-subjects differences in structures of the arm and trunk were shown in patients but not in controls. Spinal deviations, although small, were greater in patients compared to controls. Self-reported disability was higher in patients compared to controls. Differences in back pain and effect of prostheses use could not be shown. CONCLUSIONS: Patients with unilateral below-elbow reduction deficiency have consistent differences in upper body structures. Deviations of the spine, probably of functional origin, do not progress to clinically relevant scoliosis.

The fate of the index metacarpophalangeal joint following pollicization.

PURPOSE: To characterize the complications that occur at the index metacarpophalangeal (MCP) joint following pollicization and to identify the blood supply of the index MCP joint. METHODS: Eighty-five pollicized digits in 74 patients (1974-2007) were followed after surgery and had documented clinical examinations and radiographs to evaluate physeal arrest, nonunion at the pollicized digit base, and instability of the new carpometacarpal joint at a minimum of 2 years following surgery. RESULTS: Proximal phalanx physeal arrest was the most common complication. Radiographic nonunion at the juncture of the index metacarpal head and base occurred with and without instability. Twenty-one of 85 pollicized digits showed radiographic evidence of physeal arrest, 12 of which were complete and 9 partial. No clinical factor was found to significantly correlate with a physeal arrest, although the 9 patients with the diagnosis of Holt-Oram syndrome trended toward a higher percentage, with 6 digits in 5 patients with Holt-Oram syndrome showing this complication. Twenty pollicized MCP joints did not have bony union to the base of the index metacarpal, but only 3 were clinically unstable and required surgical stabilization. Ten pollicized digits developed some degree of instability and subluxation at the new carpometacarpal joint, but only one required surgical intervention. In recent cases, a search for the blood supply to the MCP joint has demonstrated a consistent vessel deep to the interosseous muscles that arborizes on the volar metacarpal neck. Our surgical technique has evolved to preserve this vessel whenever possible. CONCLUSIONS: Our complications are most likely due to technical factors. Careful dissection of the index MCP joint during pollicization should help reduce physeal growth arrest. Patients with Holt-Oram syndrome might have an increased risk of growth arrest. However, the majority of patients did not require secondary surgery and have good function. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic IV.

Assessment tools and classification systems used for the upper extremity in children with cerebral palsy.

BACKGROUND: Clinicians interested in assessment and outcome measurement of upper extremity (UE) function and performance in children with cerebral palsy (CP) must choose from a wide range of tools. QUESTIONS/PURPOSES: We systematically reviewed the literature for UE assessment and classification tools for children with CP to compare instrument content, methodology, and clinical use. METHODS: We searched Health and Psychosocial Instruments (HaPI), US National Library of Medicine (PubMed), and Cumulative Index to Nursing and Allied Health Literature (CINAHL Plus) databases (1937 to the present) to identify UE assessment and outcomes tools. We identified 21 tools for further analysis and searched HaPI, PubMed, CINAHL Plus, and Google Scholar ( http://scholar.google.com/schhp?tab=ws ) databases to identify all validity and reliability studies, systematic reviews, and original references for each of the 21 tools. RESULTS: The tools identified covered ages birth to adulthood. International Classification of Functioning, Disability and Health domains addressed by these tools included body function, body structure, activities and participation, and environmental factors. Eleven of the tools were patient or family report, seven were clinician-based observations, and three tools could be used in either fashion. All of the tools had published evidence of validity. Nine of the tools were specifically designed for use in subjects with CP. Two of the tools required formal certification before use. Ten of the tools were provided free of charge by the investigators or institution who developed them. CONCLUSIONS: Familiarity with the psychometric and clinometric properties of assessment and classification tools for the UE in children with CP greatly enhances a clinician's ability to select and use these tools in daily clinical practice for both clinical decision-making and assessment of outcome.