Search

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]

Amniotic band syndrome can lead to a wide spectrum of congenital abnormalities including orofacial and visceral defects. It is associated with malformations in truncal, craniofacial regions and the limbs, whereas it sometimes may imitate some genetic disorders. Here, we present an atypical case mimicking amniotic band syndrome with a facio‐upper arm band that was having multiple fetal structural abnormalities including scoliosis, bilateral cleft lip and palate, upper limb abnormality, unilateral anophthalmia with contralateral microphthalmia, left hypertrophic kidney and severe ventriculomegaly. [ABSTRACT FROM AUTHOR]

Aim: To evaluate the relationship between the movement abnormalities of the impaired upper limb in children with unilateral cerebral palsy (CP) and bimanual performance.Method: Twenty-three children with unilateral CP (mean age 11y 10mo [SD 2y 8mo]) underwent evaluation of bimanual performance (Assisting Hand Assessment [AHA]) and a three-dimensional movement analysis to measure deviations in the movement of their affected upper limb, and compared with 23 typically developing children (TDC) (mean age 11y 11mo [SD 2y 5mo]). Kinematic indices, such as the Global Arm Profile Score (APS), which summarizes the global movement deviation of the upper limb from the norm, and the Global Arm Variable Score (AVS), which represent movement deviations for a given joint, were calculated and correlated to AHA.Results: Values of kinematic indices were significantly higher in children with unilateral CP than in TDC. A strong correlation between Global-APS and AHA score (r=-0.75) was found. Other significant correlations were found with Global-AVS, especially in distal joints.Interpretation: Children with unilateral CP had more movement deviations than TDC. The global movement deviation of the impaired upper limb was strongly correlated with bimanual performance. The influence of distal abnormalities confirms the importance of considering these limitations in therapeutics.What This Paper Adds: Children with unilateral cerebral palsy had more movement deviations than typically developing children in unimanual tasks. A strong relationship was found between movement deviations of the impaired upper limb and bimanual performance. [ABSTRACT FROM AUTHOR]

Key points: Experimental pain or its anticipation influence motor preparation processes as well as upcoming movement execution, but the underlying physiological mechanisms remain unknown. Our results showed that movement‐related pain modulates corticospinal excitability during motor preparation. In accordance with the pain adaptation theory, corticospinal excitability was higher when the muscle has an antagonist (vs. an agonist) role for the upcoming movement associated with pain. Anticipation of movement‐related pain also affects motor initiation and execution, with slower movement initiation (longer reaction times) and faster movement execution compared to movements that do not evoke pain. These results confirm the implementation of protective strategies during motor preparation known to be relevant for acute pain, but which may potentially have detrimental long‐term consequences and lead to the development of chronic pain. Abstract: When a movement repeatedly generates pain, we anticipate movement‐related pain and establish self‐protective strategies during motor preparation, but the underlying mechanisms remains poorly understood. The current study investigated the effect of movement‐related pain anticipation on the modulation of behaviour and corticospinal excitability during the preparation of arm movements. Participants completed an instructed‐delay reaction‐time (RT) task consisting of elbow flexions and extensions instructed by visual cues. Nociceptive laser stimulations (unconditioned stimuli) were applied to the lateral epicondyle during movement execution in a specific direction (CS+) but not in the other (CS−), depending on experimental group. During motor preparation, transcranial magnetic stimulation was used to measure corticospinal excitability in the biceps brachii (BB). RT and peak end‐point velocity were also measured. Neurophysiological results revealed an opposite modulation of corticospinal excitability in BB depending on whether it plays an agonist (i.e. flexion) or antagonist (i.e. extension) role for the CS+ movements (P < 0.001). Moreover, behavioural results showed that for the CS+ movements RT did not change relative to baseline, whereas the CS− movements were initiated more quickly (P = 0.023) and the CS+ flexion movements were faster relative to the CS− flexion movements (P < 0.001). This is consistent with the pain adaptation theory which proposes that in order to protect the body from further pain, agonist muscle activity is reduced and antagonist muscle activity is increased. If these strategies are initially relevant and lead to short‐term pain alleviation, they may potentially have detrimental long‐term consequences and lead to the development of chronic pain. [ABSTRACT FROM AUTHOR]

Split‐hand/split‐foot malformation (SHFM) is a severe form of congenital limb deformity characterized by the absence of 1 or more digits and/or variable degree of median clefts of hands and feet. The present study describes an investigation of a consanguineous family of Pakistani origin segregating SHFM in an autosomal recessive manner. Human genome scan using SNP markers followed by whole exome sequencing revealed a frameshift deletion (c.409delA, p.Ser137Alafs*19) in the EPS15L1 gene located on chromosome 19p13.11. This is the first biallelic variant identified in the EPS15L1 gene underlying SHFM. Our findings report the first direct involvement of EPS15L1 gene in the development of human limbs. [ABSTRACT FROM AUTHOR]

Abstract: Background: The Fahn‐Tolosa‐Marin Clinical Rating Scale for Tremor (FTM) has been used in large trials for essential tremor (ET), but its anchors for ratings from 0 to 4 of upper limb tremor are probably too low for patients with severe tremor (tremor amplitude >4 cm; grade 4). The Essential Tremor Rating Assessment Scale (TETRAS) is a validated clinical scale designed specifically for the assessment of ET severity. TETRAS has anchors that span a larger range of tremor amplitudes (>20 cm = grade 4), making it more suitable for assessing patients with severe ET. However, there is no direct comparison of these scales in any clinical trial. Methods: Upper limb postural and kinetic tremor items from both scales were compared using blinded, video‐recorded examinations of patients with moderate‐to‐severe ET who participated in a trial of focused ultrasound thalamotomy. Results: FTM ratings of postural and kinetic tremor correlated strongly with those of TETRAS. However, FTM exhibited a ceiling effect for severe tremor. Rest tremor, exclusive to FTM, correlated poorly with postural and kinetic tremor and had very poor test‐retest reliability. In contrast, wing‐beating postural tremor, exclusive to TETRAS, exhibited excellent test‐retest reliability and a strong correlation with kinetic and limbs‐extended‐forward postural tremor. Test‐retest reliabilities of the other TETRAS and FTM ratings were excellent, and both scales had good sensitivity to treatment effect. Conclusions: TETRAS has 2 main advantages over FTM in the assessment of tremor severity: (1) the absence of a ceiling effect in patients with severe ET, and (2) the inclusion of wing‐beating tremor. [ABSTRACT FROM AUTHOR]

Background The Holt-Oram syndrome ( HOS) is an autosomal dominant disorder affecting 1/100.000 live births. It is defined by upper limb anomalies and congenital heart defects with variable severity. We describe a dramatic phenotype of a male, 15-month-old patient being investigated for strict diagnostic criteria of HOS. Methods and results Genetic analysis revealed a so far unpublished TBX5 mutation, which occurs de novo in the patient with healthy parents. TBX5 belongs to the large family of T-box transcription factors playing major roles in morphogenesis and cell-type specification. The mutation located in the DNA-binding domain at position 920 (C→A) leads to an amino acid change at position 85 (proline → threonine). Three-dimensional analysis of the protein structure predicted a cis to trans change in the respective peptide bond, thereby probably provoking major conformational and functional alterations of the protein. The p.Pro85Thr mutation showed a dramatically reduced activation (97%) of the NPPA promoter in luciferase assays and failed to induce NPPA expression in HEK 293 cells compared to wild-type TBX5 protein. The mutation did not interfere with the nuclear localization of the protein. Conclusion These results suggest that the dramatic functional alteration of the p.Pro85Thr mutation leads to the distinctive phenotype of the patient. [ABSTRACT FROM AUTHOR]

Aim: Thrombocytopenia-absent radius (TAR) syndrome is characterised by bilateral absence of the radii in the presence of both thumbs and hypomegakaryocytic thrombocytopenia. We report our experience of three patients affected by TAR syndrome presenting with different clinical manifestations focusing on the management of these patients. Methods and results: We propose the use of long-term central venous catheters to reduce discomfort because of repeated vein punctures in search for a venous access, rendered difficult by upper limbs abnormalities. Conclusions: It is important to improve the quality of life of affected patients. [ABSTRACT FROM AUTHOR]

Born in Edinburgh in 1774 Sir Charles Bell, as a young man, studied anatomy and surgery in his hometown. There followed a distinguished career that culminated in his becoming the first professor of Anatomy and Surgery at the College of Surgeons in London. Renowned as a brilliant neuroanatomist he was invited, on the advice of His Grace the Archbishop of Canterbury and the Bishop of London, to contribute one of eight volumes of a work on the Power Wisdom and Goodness of God as manifested in the Creation - known as the Bridgewater Treatises. 'The Hand its Mechanism and Vital Endowments as Evincing Design' was published in 1833 and it is an account of his considering the hand as a machine that has been engineered to exacting standards to interact with the environment in which we live. In it he expressed a deep understanding of the similarity of the structure of the upper limbs of the higher orders of animals. The similarity of the paddle of a turtle and a human hand with acrosymbrachydactyly is unmistakable. This congenital abnormality, given the eponymous title of Apert's syndrome, is one of a number of congenital abnormalities that have parallels in the animal kingdom. Others who have had similar syndromes named after them include Poland, Marfan, Streeter and a number of others. The life and times of these men and their contributions to medicine will be presented in this paper. [ABSTRACT FROM AUTHOR]

There are a number of people living with late effects of polio, but the extent of engagement with the upper extremity is unclear. The objective is to describe the polio involvement in persons attending the polio clinic and to assess the perceived problems in self-reported arm/hand function. A 1-year sample of consecutively examined community-dwelling people at the polio clinic. Electromyography and muscle strength were assessed as part of the clinical examination. A questionnaire regarding perceived problems in different activities involving arm/hand function was sent out prior to appointment and brought to the clinic. A total of 186 persons were seen, and the majority was women (65%). The average age at examination was 60 years (SD 14), and the acute polio illness had occurred at 5 years of age (SD 7). Post-polio syndrome was present in 96%. Polio involvement in the upper extremities was seen in the majority, and this was often clinically unstable. Perceptions of problems in arm/hand activities did not always correlate with having had polio in the upper extremity or with mode of mobility. However, the grip force correlated significantly with the number of perceived problems. Bi-manual activities were more often perceived problematic. Polio involvement in the upper extremity is very common. There were no obvious correlations with the objective findings of polio and perceived problems. The polio survivors' adaptation requires more questions and assessments from the professional team to identify those with a possible need for intervention. [ABSTRACT FROM AUTHOR]

Background/aim: The aim of this paper is to describe the use of a structured interview methodology, the repertory grid technique, for investigating the clinical reasoning of an experienced occupational therapist in the domain of upper limb hypertonia as a result of brain injury. Method: Repertory grid interviews were completed before and after exposure to a protocol designed to guide clinical reasoning and decision-making in relation to upper limb neurological rehabilitation. Data were subjected to both qualitative and quantitative analyses. Results: Qualitative analysis focussed on clinical reasoning content. Common themes across the pre- and post-exposure interviews were the use of theoretical frameworks and practice models, the significance of clinical expertise, and discrimination of ‘broad’ and ‘specific’ aspects, as well as differentiation between ‘therapist and client-related’ aspects of the clinical situation. Quantitative analysis indicated that for both pre- and post-exposure repertory grids, clinical reasoning was structured in terms of two main concepts. In the pre-exposure grid, these were related to the therapist's role, and to the ‘scope’ of practice tasks (either broad or specific). In the post-exposure grid the two main concepts were upper limb performance, and client-centred aspects of the therapy process. Conclusions: The repertory grid technique is proposed as an effective tool for exploring occupational therapy clinical reasoning, based on its capacity for accessing personal frames of reference, and elucidating both the meaning and the structure supporting clinical reasoning. [ABSTRACT FROM AUTHOR]

The Pediatric Motor Activity Log (PMAL) is a parent-report measure of the use, by children with hemiplegic cerebral palsy (CP), of their affected upper limb in everyday activities. The aim of this study was to examine the psychometric properties of both scales of the PMAL (‘How Often’ and ‘How Well’ scales) using Rasch measurement modelling. Sixty-one parents of children with hemiplegic CP completed the PMAL and 31 completed it again 3 weeks later. The mean age of children was 4 years 6 months (SD 1y 9mo); 35 males, 26 females. Children were at Gross Motor Function Classification System (GMFCS) levels I (83%) and II (17%), and Manual Ability Classification System levels I (35%), II (52%), and III (14%). The original scales were found to have disordered rating scale structure. Further Rasch modelling with collapsed rating scale structures resulted in both scales conforming to the expectations of the Rasch model, yielding strong evidence for construct validity and reliability. One item from the How Often scale failed to conform to Rasch expectations and was deleted in subsequent analyses. Test–retest reliability of both scales was high (the intraclass correlation coefficient for the How Often scale was 0.94, and for the How Well scale 0.93). The revised scales possess good psychometric properties, specifically a logical item hierarchy, evidence of unidimensionality, adequate rating scale structure, and good test–retest reliability. We conclude that the revised PMAL has the capacity to yield valid and reliable scores except for children at the extremes of upper limb ability. [ABSTRACT FROM AUTHOR]

This study evaluated the hypothesis that upper extremity function and range of motion can be quantified reliably in children with cerebral palsy (CP) in a busy clinical setting. The specific aim was to determine the inter- and intrarater reliability of a modified House Functional Classification (MHC) system to evaluate upper extremity function and a standardized instrument to document upper extremity range of motion (Upper Extremity Rating Scale [UERS]). Sixty-five children with CP (43 males, 22 females, mean age 9y 2mo, SD 4y 1mo) with spasticity involving the upper extremity (quadriplegia n=22; hemiplegia n=36; diplegia n=7; Gross Motor Functional Classification System Levels I n=41, II n=6, III n=3, IV n=5, V n=10) were evaluated independently by occupational therapists and orthopedic surgeons using both instruments at several visits. Inter- and intrarater reliability were determined for both instruments by calculating measures of agreement (weighted kappa values and intraclass correlation coefficients [ICCs]). Interrater agreement (ICC=0.94) and intrarater agreement (ICC=0.96) on the MHC were good to excellent. Similarly, inter-rater agreement (kappa 0.66–0.81) and intrarater agreement (kappa 0.64–0.88) on the UERS was either good or excellent. The MHC and the UERS provide standardized, reliable, reproducible, and efficient instruments that can be used by occupational therapists and orthopedic surgeons to evaluate the upper extremities of children with CP. [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]

We present a group of patients with regional capillary malformations of the upper limbs and few additional findings other than prominent veins. We believe that this entity is the upper extremity equivalent of capillary-venous malformation of the lower limb and, likewise, belongs at the minor end of the spectrum of vascular disorders with overgrowth. [ABSTRACT FROM AUTHOR]

Key Clinical Message Inflammatory bowel disease can present with extraintestinal features as the patient's only complaint. The erythema nodosum ( EN) initially affected the upper limbs only, reminding us that signs do not always present in a classical fashion. The presence of EN should prompt the clinician to look for any underlying cause. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 65-year-old woman presented with cervical myelopathic symptoms and complaining of weakness and bilateral upper limbs numbness. Topics include progressive symptoms to the lower limbs with stiff and clumsy gait, compressing of the cervical cord bilaterally at the craniocervical junction from prominent vessel loops revealed from magnetic resonance imaging (MRI) and resolution from microvascular decompression and laminectomy with autologous fascia graft.

An abstract of the article "The personal experience when using the affected upper-limb during bimanual function for children with unilateral cerebral palsy" by Marilyn Cohen-Holzer and others, is presented.

An abstract of the article "Fetal arm fat: A better marker than thigh fat for nutritional status?" by C.L. Knight and colleagues is presented.

This commentary is on the original article by Greaves et al. on pages 1030–1037 of this issue. [ABSTRACT FROM AUTHOR]

The article presents a retraction of the article "Illness action rediscovered: a case study of upper limb pain," by M. Calnan, D. Wainwright, C. O'Neill, A. Winterbottom, and C. Watkins, from issue 29 of "Sociology of Health & Illness."

The article presents the author's remarks on Assisting Hand Assessment (AHA), a relatively new test for use with children with unilateral upper limb dysfunction. In his own experience in using AHA, he found that children enjoy the creative play items employed by the test. The only drawback of the AHA, he says, is that extensive training is required to use and score the assessments.