Emanuela Pagliano

Hand function in children with hemiplegic cerebral palsy: prospective follow‐up and functional outcome in adolescence

The aim of this prospective study was to determine the outcome of affected hand impairment and disability in a group of 31 children (16 males, 15 females) with hemiplegic cerebral palsy who were referred consecutively to our rehabilitation service and followed from a mean age of 2 years and 7 months to a mean age of 12 years and 9 months. The hand function assessment protocol consisted of video-recorded procedures: one to assess grip and the other to assess the extent of spontaneous use of the affected hand. Assessments at outset and at latest follow-up showed that the series as a whole had greater hand impairment in spontaneous manipulation than in gripping tasks. Comparison of hand function before age 4 years with the latest assessment over age 11 years revealed a non-significant improvement in grip, whereas spontaneous hand use remained stable. All but one of the children who had good grip and hand use scores at first assessment maintained them over time unless they were not treated for hand dysfunction. Among the children with low scores at outset, the improvement over time was more marked in grip than spontaneous hand use and occurred mainly in the early years. These results suggest that to evaluate the real disability of the affected hand in children with hemiplegia, grip assessment is insufficient and that an instrument assessing spontaneous hand use in bilateral manipulation is required. Furthermore, intensive treatment focused on hand function should be planned in the early years for children with more severe hand impairment, whereas regular follow-up is sufficient for less affected children.

Cognitive Profiles and Visuoperceptual Abilities in Preterm and Term Spastic Diplegic Children With Periventricular Leukomalacia

Although relations between the extent of periventricular leukomalacia and neuropsychological performance in preterm children with spastic diplegia have been extensively investigated, studies on term children with spastic diplegia are rare. The authors examined 15 preterm children and 9 term children with spastic diplegia, all of whom had periventricular leukomalacia as a main magnetic resonance imaging (MRI) finding (excluding full-term spastic diplegic children with other MRI findings). Cognitive abilities (Griffith scale) and visuoperceptual abilities (Developmental Test of Visual Perception) were compared in the 2 groups and related to periventricular leukomalacia severity. Cognitive performance was substantially similar in the 2 groups. However, the overall Developmental Test of Visual Perception scores were below normal in the preterm and were normal in the term children; furthermore, visuoperceptual abilities were differentially affected in the preterm children, with visuomotor abilities more compromised than nonmotor visuoperceptual abilities. These children had similar cognitive performance and MRI findings, so the greater visuoperceptual compromise in the preterm group suggests a direct influence of prematurity, which may have adversely influenced the reorganization of visual centers and pathways following the initial developmental insult. The strabismus present in most preterm children would also have contributed to their greater visuoperceptual compromise. The authors conclude that the management of preterm and term children should differ, with concentration on visuoperceptual skills and rehabilitation in the former.

Gait pattern classification in children with Charcot–Marie–Tooth disease type 1A

Gait pattern classification may assist in clinical decision making and cluster analysis (CA) has been often adopted to this aim. The goal of this study was to identify, through CA, typical walking patterns in a group of 21 young subjects with CMT1A, a hereditary progressive neuropathy, and to study possible correlation with the diseases clinical status. The protocol included kinematic/kinetic analysis of natural walking and more demanding locomotor tasks, i.e. toe- and heel-walking. Hierarchical cluster analysis was carried out on parameters related to primary signs (foot-drop and push-off deficit) and, separately, to compensatory mechanisms at proximal (pelvis, hip and knee) or distal (ankle) level. CA on primary signs during natural walking identified three clusters: (1) pseudo-normal patients (PN), not significantly different from controls; (2) patients showing only foot-drop (FD); (3) patients with foot-drop and push-off deficit (FD&POD). Patients belonging to the PN subgroup showed distal abnormalities during heel-walking. The FD&POD subgroup was associated to a significantly worse clinical score (CMTES, p<0.05). The main compensatory strategies, which occurred independently from primary clusterization, included augmented hip/knee flexion in swing (steppage) and early ankle plantarflexion at mid stance (vaulting). We concluded that, although a number of young CMT1A patients do not show typical primary deviations during natural walking, they do show significant abnormalities in more demanding locomotor tasks that should be therefore considered. It is also hypothesized that progression of this degenerative condition may be associated to the migration of patients to more severe clusters, with possible appearance of compensatory strategies.

Predictors of Independent Walking in Children With Spastic Diplegia

A prospective study was carried out to identify predictors of independent walking in 31 children with either spastic diplegia or triplegia, observed from the age of 9 to 18 months (mean, 11 months) and followed for a mean period of 30 months (range, 24 to 36 months). Mean age at most recent examination was 41 months (range, 36 to 54 months). We used an 18-item scheme to chart the acquisition, from the prone position, of prelocomotor, sitting, and locomotor skills. Examinations were conducted every 6 months and videotaped according to a standardized procedure. At latest assessment 18 (58%) of the 31 children had achieved walking, 7 (23%) independently and 11 (35%) with assistance; 13 (42%) did not achieve walking. Ambulatory status was related to developmental quotient and visual acuity: all the children who became independent walkers had normal visual acuity and in 86% of cases a normal general development quotient. Moreover, we found a significant correlation between the number of gross motor skills achieved and the rate of achievement before 2 years of age and ambulatory status at 3 to 5 years of age. Ability to put weight on the hands while prone and to roll from supine to prone position by 18 months of age were significantly related to independent walking, while ability to sit without support was predictive only at around 24 months of age. (J Child Neurol 2000;15:228-234).

Unimanual and Bimanual Intensive Training in Children With Hemiplegic Cerebral Palsy and Persistence in Time of Hand Function Improvement 6-Month Follow-Up Results of a Multisite Clinical Trial

This study aims to compare in hemiplegic children the effectiveness of intensive training (unimanual and bimanual) versus standard treatment in improving hand function, assessing the persistence after 6 months. A multicenter, prospective, cluster-randomized controlled clinical trial was designed comparing 2 groups of children with hemiplegic cerebral palsy, treated for 10 weeks (3 h/d 7 d/wk; first with unimanual constraint-induced movement therapy, second with intensive bimanual training) with a standard treatment group. Children were assessed before and after treatment and at 3 and 6 months postintervention using Quality of Upper Extremity Skills Test (QUEST) and Besta Scales. One hundred five children were recruited (39 constraint-induced movement therapy, 33 intensive bimanual training, 33 standard treatment). Constraint-induced movement therapy and intensive bimanual training groups had significantly improved hand function, showing constant increase in time. Grasp improved immediately and significantly with constraint-induced movement therapy, and with bimanual training grasp improved gradually, reaching the same result. In both, spontaneous hand use increased in long-term assessment.

Reliability of instrumented movement analysis as outcome measure in Charcot–Marie–Tooth disease: Results from a multitask locomotor protocol

Some neurodegenerative diseases at early stage may not drastically affect basic gait ability, whereas more demanding locomotor tasks are more prone to disease-induced abnormalities. In this study, we evaluated the interday test–retest reliability, 4–6 weeks apart, of instrumented movement analysis on a group of 20 subjects with Charcot–Marie–Tooth (CMT) disease considering a set of kinematic and kinetic curves and related parameters obtained during natural walking (NW) and faster walking, heel and toe-walking, step ascending and descending. Results showed that the reliability was good for NW, with the exception of trunk curves, pelvic tilt and EMG profiles (moderate reliability), and trunk ROM in sagittal/transverse plane (poor reliability). Comparing our results with literature, CMT patients did not present a greater variability during NW than healthy subjects or patients with diseases of CNS. Additional locomotor tasks showed a slight reduction of reliability, although the moderate-to-good level shown in NW was almost never reduced to poor. Most of SEM values (absolute measurement errors) were smaller than 5°, a clinically acceptable threshold. In particular THS, an ankle joint related parameter computed across heel and toe-walking tasks, showed an optimal reliability (ICC = 0.95, SEM = 2.7°) and correlation with CMT clinical scores. Toe and heel-walking and step ascending tasks maximised the number of parameters with a moderate-to-good correlation with patients’ clinical status. We concluded that, in addition to natural walking, more challenging locomotor tasks are good candidates to provide reliable and sensitive outcome measures for CMT patients.

Multisite Trial on Efficacy of Constraint-Induced Movement Therapy in Children with Hemiplegia : Study Design and Methodology

Facchin P, Rosa-Rizzotto M, Turconi AC, Pagliano E, Fazzi E, Stortini M, Fedrizzi E, The Gipci Studi Group: Multisite trial on efficacy of constraint-induced movement therapy in children with hemiplegia: study design and methodology. Am J Phys Med Rehabil 2009;88:216-230. Objective:In the past decades, several treatment approaches have been used to improve upper limb function in hemiplegic cerebral palsy. Only recently has constraint-induced movement therapy emerged as a treatment approach for children with hemiplegic cerebral palsy with the aim of reversing the behavioral suppression of movement in the affected upper limb. To date, evidence on this treatment has been very poor and limited, because all currently available trials reveal methodological limitations and a need for additional research to support the application of this treatment technique. This article presents the methodological choices, design, and main characteristics of an ongoing controlled clinical trial on the effectiveness and safety of constraint-induced movement therapy combined with an intensive rehabilitation program and compared with two comparison groups: one treated with an intensive rehabilitation program and the other with standard treatment. Methods:Twenty-one rehabilitation sites are currently recruiting patients with hemiplegic cerebral palsy, aged between 2 and 8 yrs, who have never undergone constraint therapy. Primary outcome measures include two major domains: upper limb motor ability (Quality of Upper Extremity Skills Test) and hand function assessment evaluating both grip function and spontaneous use of the affected side (Besta scale). Secondary outcome measures concern overall function, behavior, compliance, and satisfaction with treatment program of both child and family. Patients’ follow-up is of 12 mos after treatment. Results:Research in children has always been neglected in comparison with adults, because of ethical reasons regarding the use of children for experimental purposes. The consequence has been the utilization of treatment and assessment tools and techniques that have not always been tested in pediatric patients or evidence is very scarce. Conclusion:Discussing and working on pediatric research methods represents an urgent need in rehabilitation research.

Outcome measures for Charcot-Marie-Tooth disease: clinical and neurofunctional assessment in children.

Charcot‐Marie‐Tooth (CMT) disease is the most common inherited neuromuscular disorder, presenting with symptoms often occurring since childhood, and showing a progressive course. At present, there are no valid and reliable measures for evaluation of impairment and disability in the pediatric population. The aim of this study was to determine the usefulness of outcome measures, commonly used in adult patients, in CMT children. We report the results of a comprehensive evaluation of 21 children affected with CMT type 1A, including clinical examinations, measure of hand and foot muscle strength with a hand‐held dynamometer, and the following scales: CMT Neuropathy Score or its clinical component CMT Examination Score, Overall Neuropathy Limitations Scale (ONLS), Walk‐12 questionnaire, and nine‐hole peg test (9‐HPT). Hand grip, three‐point pinch, and foot dorsiflexion strength were significantly lower than age/sex equivalent in almost all cases. 9‐HPT was significantly abnormal in 62% of patients and CMT Examination Score was <10 points in all cases. ONLS showed presence of minor disability in the upper limbs in 57% and mild abnormalities of gait in 71% of patients. Overall, these scales demonstrated limited potential to measure disability and severity of the disease confirming that it is necessary to identify specific scales for children with CMT.

Changes of gait pattern in children with Charcot-Marie-Tooth disease type 1A: a 18 months follow-up study

BackgroundIn a previous study we identified 3 different gait patterns in a group of children with CMT1A disease: Normal-like (NL), Foot-drop (FD), Foot-drop and Push-off Deficit (FD&POD). Goal of the present study was to perform a follow-up evaluation of the same group of patients to analyze possible changes of gait features in relation to disease progression or specific therapy.MethodsNineteen children with CMT1A were evaluated clinically (CMT-Examination Score and Overall Neuropathy Limitation Scale) and through gait analysis 18.2±1.5 months after a baseline evaluation. Meanwhile, 3 of them had foot surgery.ResultsFifteen out of the 16 non-operated patients significantly changed at least one of the two parameters associated to primary signs (FD and/or POD). Eleven participants worsened at least one parameter and 9 improved one parameter. CMTES significantly worsened for the group of non-operated patients. However, there was no change in CMTES score in 4 patients and in ONLS score in 11. At subgroup level, participants originally belonging to NL group showed a trend towards a foot-drop deficit (−15%, ns); FD and FD&POD subgroups did not change their primary signs, although significant changes were identified individually. All 3 patients operated have improved push-off and proximal joint patterns during walking. Clinical scores did not change within any sub-group.ConclusionsSubtle changes occurring in 1.5 year in gait features of CMT1A children can be instrumentally identified. Such changes show a large inter-subject variability, with some patients even improving their walking pattern. There is anecdotal evidence that foot surgery may improve the push-off phase of gait.

Ring chromosome 9: An atypical case

A new case of ring chromosome 9 in a 36-month-old child is presented. In addition to the pathognomonic features of this rare disorder (only 21 cases reported), our patient presents some peculiarities, such as corpus callosum hypoplasia and epileptic seizures (infantile periodic spasms). We also observed a reduced level of leukocyte interferon alpha whose synthesis is controlled by a gene on chromosome 9 and which could be responsible for the recurrent respiratory tract infections, typical and sometimes fatal in these patients.