Neurosciences & Neurology; Rett syndrome; hand stereotypies; retardation; movement-disorders; adult age; movement disorder; tone and motor problems; trajectory; characteristics; stereotypy
Description
Stereotypies in Rett syndrome (RTT) are a diagnostic hallmark present in all stages of the disease, but descriptions of movement disorders in adults are very scant. Among 30 patients with RTT followed-up at San Paolo Hospital in Milan, we selected those aged >= 14 years and studied 12 patients (mean age 18.6 years, range: 14-31) with MECP2 mutations. Mean age at stereotypies onset was 19.4 months; stereotypies at onset tend to be maintained during evolution, while new stereotyped movements can be detected in the follow-up. All patients still present stereotypies involving separated or joined hands: most frequently mouthing, pill rolling, and twisting. We underline that stereotyped movements persist in older patients and can be useful to suspect RTT diagnosis in adult age in otherwise unclassified patients. (C) 2009 Movement Disorder Society
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Pediatrics; Surgery; Neurosciences & Neurology; cerebral-palsy; Deep brain stimulation; globus-pallidus internus; hemidystonia; Secondary dystonia; Pediatric neurosurgery; surgical-treatment; tone and motor problems; IND; surgical intervention; deep brain stimulation; dystonia
Description
Purpose There is a paucity of effective long-term medication treatment for secondary dystonias. In situations where significantly impairing secondary dystonias fail to respond to typical enteral medications and intrathecal (or even intraventricular) baclofen, consideration should be given to the use of deep brain stimulation (DBS). While Level I evidence and long-term follow-up clearly demonstrate the efficacy of DBS for primary dystonia, the evidence for secondary dystonia remains mixed and unclear. In this study, we report our experience with pediatric subjects who have undergone DBS for secondary dystonia. Methods We discuss the indications and outcomes of DBS procedures completed at our center. We also present a detailed discussion of the considerations in the management of these patients as well as a literature review. Results Of the four cases retrospectively examined here, all subjects experienced reductions in the severity of their dystonia (ranging from 0 to 100% on both the Barry-Albright Dystonia (BAD) and Burke-Fahn-Marsden Dystonia Rating Scale-Motor (BFMDRS-M) scales). Conclusions Pallidal DBS should be considered among children with functionally debilitating, medication-resistant secondary dystonia. Patients without fixed skeletal deformities who have experienced a short duration of symptoms are most likely to benefit from this intervention.
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The development and psychometric assessment of a questionnaire to assess sleep and daily troubles in parents of children and young adults with severe psychomotor impairment
Creator
Tietze A L; Zernikow B; Otto M; Hirschfeld G; Michel E; Koh M; Blankenburg M
Background: Children with severe psychomotor impairment (SPMI) often experience sleep disturbances that severely distress both the child and his or her parents. Validated questionnaires for the assessment of parents' distress related to their child's sleep disturbances are lacking. Methods: We developed and validated a new questionnaire, the HOST (holistic assessment of sleep and daily troubles in parents of children with SPMI) to assess the effect of the sleep disturbances in children with SPMI on their parents. The questionnaire was developed based on published data and expert opinion, and it was refined via direct consultation with affected parents. Its psychometric characteristics were assessed in a sample of parents of 214 children with SPMI. It was retested using a random subsample of the participants. Results: Explorative factor analysis revealed that the HOST was composed of four scales. Fit indices, item analysis, and convergent validity (coherence with preexisting instruments of sleep disturbances and health status) were adequate. Retest analysis (n = 62) revealed high stability of the HOST questionnaire and adequate replication validity. Conclusion: Sleep-related difficulties significantly impact the sociomedical characteristics of the parents of children with complex neurologic diseases. Typically, parents are severely affected in various aspects of daily life (i.e., medical health, social life, professional life). The HOST proved to be a valid, reliable and economical assessment tool of sleep-related difficulties in parents and relatives of children with SPMI. The HOST is capable of identifying individuals and specific areas requiring intervention. (C) 2013 Elsevier B.V. All rights reserved.
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Neurosciences & Neurology; dystonia; Rett syndrome; females; rigidity; stereotypies; chorea; Parkinson; tremor; tone and motor problems; trajectory; characteristics; movement disorders
Description
Rett syndrome (RS) is one of the best human models to study movement disorders. Patients evolve from a hyperkinetic to a hypokinetic state, and a large series of abnormal movements may be observed along their lives Such as stereotypies, tremor, chorea, myoclonus. ataxia, dystonia, and rigidity. The aim of this work was to analyze movement disorders in RS patients with a detected MECP2 mutation, as well as their correlation with genotype, in a clinically and genetically well-characterized sample of patients, and thus Contribute to redefine the clinical profile of this disease. In this study, we included 60 patients with detected MECP2 mutations. These were categorized and grouped for analysis, according to (1) type of change (missense or truncating. including nonsense and frameshift but also large deletions) and (2) location of the mutation. Differences were found concerning the frequency of independent gait. dystonia, type of tremor. and global score severity when comparing the group of patient S with missense and truncating, Mutations. We also found differences in the presence. distribution, severity, or type of movement disorders in the two groups of patients according to the median duration of the disease (less than 60 months: 60 months or more). We conclude that movement disorders seem to reflect the severity and rate of progression of Rett disorder, patients with truncating mutations presenting a higher rate and more severe dystonia and rigid-akinetic syndrome. when comparing groups with similar time of disease evolution. (C) 2008 Movement Disorder Society.
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Neurosciences & Neurology; behaviors; hand movements; regression; normal human infants; stage; tone and motor problems; Rett syndrome; trajectory; characteristics; hair pulling; stereotypy
Description
Background: Hand stereotypies are considered a hallmark of Rett syndrome (RTT) and are usually described as symmetric movements at the midline. However, related pathologies may show the same type of involuntary movement. Furthermore, patients with RTT also have stereotypies with other localizations that are less well characterized. Methods: We analyzed stereotypies in 83 patients with RTT, 53 with and 30 without a mutation detected in the MECP2 gene. Patients were observed and videotaped always by the same pediatric neurologist. Stereotypies were classified, and data were submitted to statistical analysis for comparison of mutation-positive and -negative patients and analysis of their evolution with the disease. Results: All the patients showed hand stereotypies that coincided with or preceded the loss of purposeful hand movements in 62% of the patients with MECP2 mutations. The hair pulling stereotypy was more frequent in the group with detected mutations, whereas hand washing was not. Hand gaze was absent in all RTT patients with MECP2 mutations. Patients with MECP2 mutations also had more varied stereotypies, and the number of stereotypies displayed by each patient decreased significantly with age in this group. In all patients, stereotypies other than manual tended to disappear with the evolution of the disease. Conclusions: Although symmetric midline hand stereotypies were not specific to patients with an MECP2 mutation, some of the other stereotypies seemed to be more characteristic of this group. In patients younger than 10 years and meeting the necessary diagnostic criteria of Rett syndrome, the association of hand stereotypies without hand gaze, bruxism, and two or more of the other stereotypies seemed to be highly indicative of the presence of an MECP2 mutation.
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Dystonia; Neurosciences & Neurology; Deep brain stimulation; cervical dystonia; globus-pallidus internus; primary generalized dystonia; electrical-stimulation; Globus pallidus internus; movement-disorders; Outcome; pallidotomy; Rating; scales; secondary dystonia; segmental dystonia; term-follow-up; torsion dystonia; tone and motor problems; unspecified Q3 conditions; Q3 conditions; tool development; scale development; surgical intervention; deep brain stimulation
Description
The objective of this study was to examine globus pallidus internus deep brain stimulation (GPi-DBS) outcomes in primary and secondary dystonia, derived from blinded ratings using two scales and two raters. Twenty-five patients with variable presentations of dystonia were evaluated with videotaped standardized dystonia rating scales at preoperative baseline and at 6 and 12 months following GPi-DBS implantation. These 75 examination videos were retrospectively evaluated, independently and in random order, by two movement disorder neurologists who were blinded to the treatment status. Both neurologists scored each videotaped evaluation using the Burke-Fahn-Marsden Dystonia Rating Scale-motor part (BFMDRS-M) and the Unified Dystonia Rating Scale (UDRS). A final score for each video was assigned by averaging the raters' scores. An intra-class correlation coefficient was used to calculate inter-rater reliability. A linear mixed model was fitted to investigate the time effect and its interaction with type of dystonia (primary versus secondary) for each rating scale. Inter-rater reliability was excellent. Intraclass correlation coefficients ranged from 0.994 to 0.997 for both scales at baseline, 6 and 12 months. The average motor improvement scores after GPi DBS for the entire heterogeneous group of dystonia patients after 6 and 12 months of stimulation was 21.32% (p = 0.0010) and 28.95% (p = 0.0017), respectively, when the UDRS score was used. Similar levels of improvement 20.46% (p = 0.0055) at 6 months and 27.39% (p = 0.00197) at 12 months were found using the BFMDRS-M score. Analysis using unblinded scores from our database revealed a 32.99 and 37.27% UDRS improvement at 6 and 12 months, and an improvement in UDRS score of 38.5 and 43.7% when the analysis was limited to only primary dystonia. If the data were further segregated to include only cases of DYT-1 primary generalized dystonia, the UDRS benefit increased to 48.24%. Our primary dystonia group was diluted by the presence of both old- and young-onset patients, as well as focal, segmental and generalized dystonia. In conclusion, (1) evaluating motor outcomes of DBS therapy for dystonia using independent, randomized retrospective rating by blinded raters' results in lower improvement scores than when outcomes are rated by unblinded treating neurologists. Blinded methodology may be superior and might produce a more realistic assessment of motor outcomes after DBS in patients with dystonia; (2) outcomes were similar whether the BFMDRS-M or UDRS was utilized; (3) GPi-DBS was effective in treating sustained involuntary motor co-contractions in medication refractory dystonia patients, more so in primary dystonia.
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Self-injurious behavior (SIB) has been observed in people with tuberous sclerosis complex (TSC), although the frequency of SIB in TSC is largely unknown. SIB is associated with intellectual and developmental disabilities, but there is no single cause of SIB. We retrospectively examined the frequency of SIB in a population of 257 patients with TSC and determined possible associations with SIB. We found a 10% frequency of SIB in our TSC population. When compared with patients without psychiatric symptoms, we identified a significantly higher rate of electroencephalographic interictal spikes in the left frontal lobe and a significantly lower number of tubers in the left occipital, parietal, and posterior temporal lobes. We also found that frequency of TSC2 Mutation, history of infantile spasms, history of seizures, mental retardation, and autism are significantly associated with SIB. (C) 2008 Elsevier Inc. All rights reserved.
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Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Pediatrics; Neurosciences & Neurology; girls; splints; feeding difficulties; tone and motor problems; Rett syndrome; psychological intervention
Description
Few studies have examined the extent to which functional hand-use may be taught to girls with Rett syndrome after those skills have been lost. In this investigation, five females with classic Rett syndrome taught to feed themselves using a method of prompting and reinforcement. All patients demonstrated improvements in their self-feeding skills. The results are discussed in terms of the factors that may influence the acquisition of skills in girls with Rett syndrome, and directions for future research and proposed.
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The electrophysiological features of 3 brothers with the classic form of Pelizaeus-Merzbacher disease (PMD) were studied. Two consecutive overnight polygraphic sleep recordings indicated a gross distortion of rapid-eye-movement (REM) sleep for all patients. A lower than normal percentage of REM sleep in these patients was consistent with their retarded intellectual development, which supports current thinking that REM sleep may be a sensitive index of brain function integrity. Non-rapid-eye-movement (NREM) sleep, in contrast to reported findings in 1 patient with PMD, was uniformly characterized by distinct stages in which the electroencephalograms contained frequent vertex waves and spindles. Tests of peripheral nerve conduction velocity, acoustic brainstem reflexes, and visual and auditory evoked potentials did not indicate any abnormalities, nor did electroencephalograms obtained during wakefulness. One patient did have epileptiform spikes and spike waves recorded during an all-night EEG, an unusual finding in a child with cerebral white matter disease.
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children; Pediatrics; Neurosciences & Neurology; management; botulinum toxin type A; cerebral-palsy; disease; equinus deformity; Hunter syndrome; hunter-syndrome; II; mucopolysaccharidosis type; recommendations; skeletal-muscle; tone and motor problems; MPSII; pharmacologic intervention; physical intervention; botulinum toxin type A; serial casting; physical therapy
Description
Mucopolysaccharidoses are lysosomal storage disorders that are caused by a deficiency in the enzymes that degrade glycosaminoglycans. The accumulation of glycosaminoglycans affects multiple systems, resulting in coarse facial features, short stature, organomegaly, and variable neurological changes from normal intelligence to severe mental retardation and spasticity. Effects on the musculoskeletal system include dysostosis multiplex, joint stiffness, and muscle shortening. This article reports 2 patients with mucopolysaccharidosis type II (Hunter syndrome) who showed progressive equinus deformity of the feet. Both patients were treated with intramuscular botulinum toxin type A injections in the gastrocnemius and the soleus muscles, followed by serial casting. In both patients, passive range of motion, muscle tone, and gait performance were significantly improved. Botulinum toxin type A injections followed by serial casting are a therapeutic option for contractures in patients with mucopolysaccharidosis. However, the long-term effects and the effect of application in other muscles remain unknown.
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Background: Sleep disturbance is part of the behavioural phenotype of the rare genetic condition mucopolysaccharidosis (MPS) type III. A growing body of evidence suggests that underlying disturbance in circadian rhythm functioning may explain sleep problems within the MPS III population. Methods: Actigraphic data were recorded in eight children with MPS III over 7-10 days and compared to age-matched typically developing controls. Parameters of circadian rhythmicity and activity levels across a 24-h period were analysed. Results: Statistically and clinically significant differences between the two groups were noted. Analysis indicated that children with MPS III showed significantly increased fragmentation of circadian rhythm and reduced stability with external cues (zeitgebers), compared to controls. Average times of activity onset and offset were indicative of a phase delayed sleep-wake cycle for some children in the MPS III group. Children with MPS III had significantly higher activity levels during the early morning hours (midnight-6 am) compared to controls. Conclusions: Results are consistent with previous research into MPS III and suggest that there is an impairment in circadian rhythm functioning in children with this condition. Implications for clinical practice and the management of sleep difficulties are discussed.
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Purpose: Early screening and intervention for dysphagia is crucial to offset potential outcomes such as compromised nutrition or reduced respiratory function. Current paediatric dysphagia screening tests are subjective with poor sensitivity and specificity. The present study examined whether an objective method, pulse oximetry (measuring oxygen saturation (SpO(2)) levels), could differentiate between children with and without dysphagia, in relation to (1) Average pre-feeding baseline SpO(2) levels; (2) Average feeding SpO(2) levels; (3) Average post-feeding SpO(2) levels; and (4) The number of events of oxygen desaturation pre-, during and after feeding. Methods: Nine participants with chronic neurological disability (CND) (7 F, 2M) (9; 7-15; 11 years) and nine control participants matched for age (9; 5-16; 0 years) and sex were assessed using a clinical bedside evaluation (CBE) and pulse oximetry. Results: A statistically significant difference was found in SpO(2) levels between the two groups (p<0.001) during oral feeding only (sensitivity, 88.9%; specificity, 88.9%). Only three children with dysphagia experienced 'events' of SpO(2) desaturation during feeding. Conclusion: Pulse oximetry may provide a useful adjunct to the CBE for dysphagia screening, with average SpO(2) levels during feeding predicting those with and without dysphagia with moderate levels of sensitivity and specificity. The finding of individual variation in desaturation ` events', however, warrants the provision of further data on large homogenous populations to provide definitive criterion for pathological SpO(2) levels associated with dysphagia during oral feeding.
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Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients
Creator
Mazzone E; De Sanctis R; Fanelli L; Bianco F; Main M; van den Hauwe M; Ash M; de Vries R; Mata J F; Schaefer K; D'Amico A; Colia G; Palermo C; Scoto M; Mayhew A; Eagle M; Servais L; Vigo M; Febrer A; Korinthenberg R; Jeukens M; de Viesser M; Totoescu A; Voit T; Bushby K; Muntoni F; Goemans N; Bertini E; Pane M; Mercuri E
responsiveness; Neurosciences & Neurology; Spinal muscular atrophy; trial; spinal muscular-atrophy; validation; neuromuscular diseases; Outcome measures; walk test; tone and motor problems; SMA1; tool development; scale development; HMFS; MFM
Description
The aim of this prospective longitudinal multi centric study was to evaluate the correlation between the Hammersmith Functional Motor Scale and the 20 item version of the Motor Function Measure in non ambulant SMA children and adults at baseline and over a 12 month period. Seventy-four non-ambulant patients performed both measures at baseline and 49 also had an assessment 12 month later. At baseline the scores ranged between 0 and 40 on the Hammersmith Motor function Scale and between 3 and 45 on the Motor Function Measure 20. The correlation between the two scales was 0.733. The 12 month changes ranged between 11 and 4 for the Hammersmith and between 11 and 7 for the Motor Function Measure 20. The correlation between changes was 0.48. Our results suggest that both scales provide useful information although they appeared to work differently at the two extremes of the spectrum of abilities. The Hammersmith Motor Function Scale appeared to be more suitable in strong non ambulant patients, while the Motor Function Measures appeared to be more sensitive to capture activities and possible changes in the very weak patients, including more items capturing axial and upper limb activities. The choice of these measures in clinical trials should therefore depend on inclusion criteria and magnitude of expected changes. (C) 2014 Published by Elsevier B.V.
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AimThis cross-sectional investigation aimed to assess the value of non-invasive measures of temporal respiratory-swallow coupling in individuals with ataxic swallowing. MethodTwenty participants (11 males, 9 females; range 9-21y) with ataxia telangiectasia were presented with water and pudding boluses. Their 193 swallows were compared with 2200 swallows from 82 age-matched healthy controls. The two components of airway protection during swallowing that were analyzed were: direction of peri-deglutitive airflow and duration of deglutitive inhibition of respiratory airflow (DIORA). ResultsSafe expiratory patterns of peri-deglutitive airflow occurred significantly less often in participants with ataxia telangiectasia than in age-matched control participants (younger p<0.015 and older p<0.001). The frequency of an expiratory pattern of peri-deglutitive airflow increased with age in participants in the comparison group (p=0.006), but not in those with ataxia telangiectasia (p=0.234). With age, mean duration of DIORA decreased in controls (p<0.001) but was unchanged in participants with ataxia telangiectasia (p=0.164). InterpretationNon-invasive quantitative measures of respiratory-swallow coupling capture temporal relationships that plausibly contribute to airway compromise from dysphagia. Changes in respiratory-swallow coupling observed with advancing age in control participants were not seen in participants with ataxia telangiectasia. Measures of perturbations may herald swallowing problems prior to development of pulmonary and nutritional sequelae.
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BACKGROUND: Tuberous sclerosis complex is a multisystem disorder that includes a range of tuberous sclerosis associated neuropsychiatric disorders (TAND). The lifetime prevalence rates of TAND are very high; yet surveys suggest that the majority of individuals with tuberous sclerosis never receive appropriate assessment or treatment for TAND. To aid systematic enquiry, a TAND Checklist was developed. Here, we performed pilot validation of the TAND Checklist. METHOD: Mixed methods were used across two stages. In stage 1, we gathered feedback on the Checklist from tuberous sclerosis "expert professionals" and "expert parents and caregivers." The aim was to examine face and content validity. Stage 2 involved the administration of the refined TAND Checklist to 20 parents of individuals with tuberous sclerosis concurrently with four widely used validated rating scales, to examine external validity and obtain qualitative feedback on face-to-face administration of the TAND Checklist. RESULTS: Twenty professionals and 62 parents and caregivers from 28 countries participated in the pilot. The TAND Checklist demonstrated good face and content validity with high overall mean and median scores. Qualitative analysis highlighted concerns about the likely use of the TAND Checklist, suggesting that family members and individuals with tuberous sclerosis should drive usage. Stage 2 results showed moderate-to-very good external validity across TAND domain and key subdomains. Internal consistency of domains and subdomains was acceptable to very good. Ninety-three percent of all participants (93%) reported four or more lifetime TAND behavioral difficulties. CONCLUSION: The pilot validation suggested that the TAND Checklist could provide a useful screening tool in clinical settings.
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Behavioral problems are common in children with tuberous sclerosis complex (TSC) and can be challenging to manage at home. Standardized measures were used to assess behavior in 99 pediatric patients with TSC and to evaluate parenting stress in their parents. About 40% of the pediatric patients presented clinically significant behavioral problems, most frequently involving symptoms of autism spectrum disorder, inattention, and hyperactivity. Higher seizure frequency, mixed seizure disorder, and low intellectual functioning placed the patient at significant risk for behavior problems. Almost 50% of participating parents reported experiencing clinically significant parenting stress, which was associated with specific characteristics of the child, including the presence of current seizures, a history of psychiatric diagnosis, low intelligence, and behavioral problems. Clinicians should be aware that behavioral problems are prominent in children with TSC. Referrals for behavioral intervention and monitoring of parental stress should be included in the medical management of children with TSC. (C) 2008 Elsevier Inc. All rights reserved.
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meta-analysis; Neurosciences & Neurology; dystonia; movement disorders; follow-up; scale; cervical dystonia; deep brain stimulation; electric stimulation therapy; globus-pallidus internus; hemidystonia; meige-syndrome; primary generalized dystonia; Research & Experimental Medicine; severe tardive; spasmodic torticollis; stereotaxic techniques; thalamic-stimulation; tone and motor problems; IND; surgical intervention; deep brain stimulation; BFMDRS
Description
Objective. To use a meta-analysis on all reported cases of deep brain stimulation (DBS) for dystonia to determine which factors significantly influence outcome. The Burke-Fahn-Marsden (BFM) movement scale, the most reported measure, was chosen as the primary outcome measure for this analysis. Methods. A MEDLINE search identified 137 patients who underwent DBS for dystonia in 24 studies that had individual BFM scores. Individual patient data, including age at onset of dystonia, age at surgery, gender, distribution of dystonia, etiology of dystonia, presence of associated features, abnormality of preoperative imaging, prior stereotactic surgeries, nucleus stimulated, type of anesthesia used, use of physiologic monitoring, type of imaging used for localization, stimulation parameters used, time of response to stimulation, and timing of outcome assessment were entered into an SPSS database for statistical analysis. Results. The mean BFM percentage change (improvement in postoperative score from baseline) was 51.8% (range -34% to 100%). Significantly better outcomes were achieved with stimulation of the globus pallidus internus (GPi) than with stimulation of the posterior portion of the ventral lateral (VLp) nucleus of the thalamus (p = 0.0001). The etiology of the dystonia also had a significant effect on outcomes. Statistically significant improvements in outcomes were seen for all etiologic categories, except encephalitis. Dystonia due to birth injury and encephalitis had significantly worse outcomes when compared to other etiologies. However, there were no significant differences in the outcomes of patients who were DYT1 (DYT1 is the gene associated with the disorder Dystonia Musculorum Deformans) gene positive, DYT1 gene negative, or had pantothenate kinase-associated neurodegeneration (PKAN), tardive dyskinesia, and idiopathic and posttraumatic dystonias. Longer duration of dystonia symptoms correlated negatively with surgical outcome. A regression model using the three variables-stimulation site, etiology of dystonia, and duration of dystonia symptoms-explained 51% of the variance in outcomes. Conclusion. Deep brain stimulation of the GPi provides significant improvement in BFM scores in a variety of dystonic conditions.
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children; Neurosciences & Neurology; childhood; Rett syndrome; autism; mecp2; movements; hand stereotypies; motor stereotypies; stereotypies; developmental disorders; tone and motor problems; trajectory; characteristics; mouthing
Description
Background: Rett syndrome (RTT) and autism disorder (AD) are 2 neurodevelopmental disorders of early life that share phenotypic features, one being hand stereotypies. Distinguishing RTT from AD often represents a challenge, and given their distinct long-term prognoses, this issue may have far-reaching implications. With the advances in genetic testing, the contribution of clinical manifestations in distinguishing RTT from AD has been overlooked. Methods: A comparison of hand stereotypies in 20 children with RTT and 20 with AD was performed using detailed analyses of videotaped standardized observations. Results: Striking differences are observed between RTT and AD children. In RTT, hand stereotypies are predominantly complex, continuous, localized to the body midline, and involving mouthing. Conversely, in AD children, hand stereotypies are simple, bilateral, intermittent, and often involving objects. Conclusions: These results provide important clinical signs useful to the differential diagnosis of RTT versus AD, especially when genetic testing for RTT is not an option. (c) 2012 Movement Disorder Society
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children; Pediatrics; Goals; Disability; reliability; Outcomes; patient selection; validity; Neurosciences & Neurology; cerebral-palsy; follow-up; rehabilitation; globus-pallidus internus; primary generalized dystonia; (DBS); Childhood dystonia; Paediatric deep brain stimulation; pediatric movement-disorders; Secondary dystonia; tone and motor problems; Glutaric acidemia type I; surgical intervention; Deep brain stimulation; BFMDRS
Description
Purpose: Deep brain stimulation is now widely accepted as an effective treatment for children with primary generalized dystonia. More variable results are reported in secondary dystonias and its efficacy in this heterogeneous group has not been fully elucidated. Deep brain stimulation outcomes are typically reported using impairment-focused measures, such as the Burke-Fahn-Marsden Dystonia Rating Scale, which provide little information about function and participation outcomes or changes in non-motor areas. The aim is to demonstrate that in some cases of secondary dystonia, the sole use of impairment level measures, such as the Burke-Fahn-Marsden Dystonia Rating Scale, may be insufficient to fully evaluate outcome following deep brain stimulation. Methods: Six paediatric cases who underwent deep brain stimulation surgery with a minimum of one year follow up were selected on the basis of apparent non-response to deep brain stimulation, defined as a clinically insignificant change in the Burke-Fahn-Marsden Dystonia Movement Scale (<20%), but where other evaluation measures demonstrated clinical efficacy across several domains. Results: Despite no significant change in Burke-Fahn-Marsden Dystonia Rating Scale scores following deep brain stimulation, parallel outcome measures demonstrated significant benefit in a range of child and family-centred goal areas including: pain and comfort, school attendance, seating tolerance, access to assistive technology and in some cases carer burden. Conclusions: Sole use of impairment-focused measures, are limited in scope to evaluate outcome following deep brain stimulation, particularly in secondary dystonias. Systematic study of effects across multiple dimensions of disability is needed to determine what deep brain stimulation offers patients in terms of function, participation, care, comfort and quality of life. Deep brain stimulation may offer meaningful change across multiple domains of functioning, disability and health even in the absence of significant change in dystonia rating scales. (c) 2012 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
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children; Rehabilitation; Neurosciences & Neurology; Engineering; coordination; therapy; rating-scale; Accuracy; and Rating of Ataxia; cerebellar-ataxia; Friedreich's ataxia; Kinematics; movement; multiple-sclerosis; quantitative-evaluation; Reaching task; rehabilitation; Robot-mediated evaluation; Scale for the Assessment; smoothness; Smoothness; stroke recovery; Submovements; Upper limb; tone and motor problems; tool development; scale development; InMotion Arm Robot
Description
Background: Friedreich's ataxia (FRDA) is the most common hereditary autosomal recessive form of ataxia. In this disease there is early manifestation of gait ataxia, and dysmetria of the arms and legs which causes impairment in daily activities that require fine manual dexterity. To date there is no cure for this disease. Some novel therapeutic approaches are ongoing in different steps of clinical trial. Development of sensitive outcome measures is crucial to prove therapeutic effectiveness. The aim of the study was to assess the reliability and sensitivity of quantitative and objective assessment of upper limb performance computed by means of the robotic device and to evaluate the correlation with clinical and functional markers of the disease severity. Methods: Here we assess upper limb performances by means of the InMotion Arm Robot, a robot designed for clinical neurological applications, in a cohort of 14 children and young adults affected by FRDA, matched for age and gender with 18 healthy subjects. We focused on the analysis of kinematics, accuracy, smoothness, and submovements of the upper limb while reaching movements were performed. The robotic evaluation of upper limb performance consisted of planar reaching movements performed with the robotic system. The motors of the robot were turned off, so that the device worked as a measurement tool. The status of the disease was scored using the Scale for the Assessment and Rating of Ataxia (SARA). Relationships between robotic indices and a range of clinical and disease characteristics were examined. Results: All our robotic indices were significantly different between the two cohorts except for two, and were highly and reliably discriminative between healthy and subjects with FRDA. In particular, subjects with FRDA exhibited slower movements as well as loss of accuracy and smoothness, which are typical of the disease. Duration of Movement, Normalized Jerk, and Number of Submovements were the best discriminative indices, as they were directly and easily measurable and correlated with the status of the disease, as measured by SARA. Conclusions: Our results suggest that outcome measures obtained by means of robotic devices can improve the sensitivity of clinical evaluations of patients' dexterity and can accurately and efficiently quantify changes over time in clinical trials, particularly when functional scales appear to be no longer sensitive.
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Neurosciences & Neurology; Rett syndrome; girls; splints; disorganised breathing; hand movements; tone and motor problems; trajectory; characteristics; asymmetrical hand movements
Description
Objectives - It has been assumed that the sterotyped hand movements in Rett syndrome are symmetrical, midline and that they prevent purposeful use of the hands. Their relationship with respiration has not been previously explored. Material and methods - Twenty-five girls whose Rett syndrome included disorganised breathing were selected. Their parents were contacted and interviewed by telephone at their convenience. None refused. Results - The hand movements were asymmetrical in 44% of girls. Those with mainly unilateral hand movements used the same hand for purposeful tasks. The hand movements appeared to change with changing emotional or mental states. In 72% of girls the intensity of hand movements varied directly or inversely with the respiratory pattern. Conclusion - In almost half of the Rett girls the hand stereotypy is asymmetrical and non-midline. It is not the hand movements which prevent purposeful use of the hands. The hand movements together with the erratic breathing are employed as a useful means of communication.
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Pain; Aggression; problem behavior; Neurosciences & Neurology; Tuberous sclerosis complex; functional-analysis; autism spectrum disorders; intellectual disabilities; ASD; challenging behavior; cognitive impairments; de-lange-syndrome; developmental-disabilities; early-childhood; Impulsivity; psychometric properties; Repetitive/stereotyped behaviour; Self-injury; behavioral problems; De Lange syndrome; tuberous sclerosis; trajectory; characteristics; pain behaviors; mood; low mood; hyperactivity; repetitive language use
Description
Background: Research reporting prevalence rates of self-injurious and aggressive behaviour in people with tuberous sclerosis complex (TSC) is limited. No studies have compared rates of these behaviours in TSC with those in other syndrome groups matched for degree of disability or investigated risk markers for these behaviours in TSC. Methods: Data from the Challenging Behaviour Questionnaire were collected for 37 children, aged 4 to 15 years, with TSC. Odds ratios were used to compare rates of self-injury and aggression in children with TSC with children with idiopathic autism spectrum disorder (ASD), fragile X, Cornelia de Lange and Down syndromes. Characteristics were measured using the Mood Interest and Pleasure Questionnaire, the Activity Questionnaire, the Social Communication Questionnaire, the Repetitive Behaviour Questionnaire, the Wessex Behaviour Schedule and the revised Non-communicating Children Pain Checklist. Mann-Whitney U analyses were used to compare characteristics between individuals with self-injury and aggression and those not showing these behaviours. Results: Rates of self-injury and aggression in TSC were 27% and 50%, respectively. These are high but not significantly different from rates in children with Down syndrome or other syndrome groups. Both self-injury and aggression were associated with stereotyped and pain-related behaviours, low mood, hyperactivity, impulsivity and repetitive use of language. Children who engaged in self-injury also had lower levels of interest and pleasure and showed a greater degree of `insistence on sameness' than children who did not self-injure. Aggression was associated with repetitive behaviour. The majority of these associations remained significant when the association with level of adaptive functioning was controlled for. Conclusions: Behavioural profiles can be used to identify those most at risk of developing self-injury and aggression. Further research is warranted to understand the influence of such internal factors as mood, ASD symptomatology and pain on challenging behaviour in people with intellectual disability.
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Pediatrics; definitions; Neurosciences & Neurology; Rett syndrome; girls; autism; actigraphy; hand stereotypies; operational; regression; video analysis; tone and motor problems; tool development; scale development; hand stereotypies
Description
INTRODUCTION: Hand stereotypies (HS) are a primary diagnostic criterion for Rett syndrome (WIT) but are difficult to characterize and quantify systematically. METHODS: We collected video on 27 girls (2-12 years of age) with classic RTT who participated in a mecasermin trial. The present study focused exclusively on video analyses, by reviewing two five-minute windows per subject to identify the two most common HS. Three raters with expertise in movement disorders independently rated the five-minute windows using standardized terminology to determine the level of agreement. We iteratively refined the protocol in three stages to improve descriptive accuracy, categorizing HS as "central" or "peripheral," "simple" or "complex," scoring each hand separately. Inter-rater agreement was analyzed using Kappa statistics. RESULTS: In the initial protocol evaluating HS by video, inter-rater agreement was 20.7%. In the final protocol, inter-rater agreement for the two most frequent HS was higher than the initial protocol at 50%. CONCLUSION: Phenotypic variability makes standardized evaluation of HS in RTT a challenge; we achieved only 50% level of agreement and only for the most frequent HS. Therefore, objective measures are needed to evaluate HS.
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This study explored the safety and efficacy of synthetic melatonin in the treatment of sleep problems in 20 children with developmental disabilities, in a randomized, double-blind, placebo-controlled 6-week trial of melatonin versus placebo. All but 2 children fell asleep more quickly when receiving melatonin than placebo. Overall, the greater the sleep latency (time to fall asleep) was at baseline or when receiving placebo, the more pronounced was the decrease in sleep latency with melatonin. The effect of melatonin on sleep latency was significant (P < .05). The duration of sleep while receiving melatonin was significantly greater than baseline (P < .007) but was not significantly different from placebo, and no difference in the number of awakenings was noted. No side effects were reported. Eleven of 18 parents (61%) correctly identified the weeks their child received melatonin. This study suggests that synthetic melatonin reduces sleep latency in children with developmental disabilities.
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Objectives: We sought to document the prevalence and nature of sleep-disordered breathing (SDB) in individuals with Friedreich ataxia (FRDA) as well as establish the relationship, if any, between SDB and clinical parameters of FRDA. Methods: Eighty-two individuals with FRDA were administered the Epworth Sleepiness Scale on an annual basis for up to 3 years. Individuals were referred for a sleep study if they had an Epworth Sleepiness Scale score >8 or had clinical symptoms suggestive of SDB. Results: From this cohort, 21 individuals underwent a sleep study and 17 were diagnosed with obstructive sleep apnea syndrome, giving a minimum prevalence of 21%, which is greater than that found in the general population (3%-7%). Moreover, the presence of obstructive sleep apnea was significantly correlated with the duration of disease and clinical severity of FRDA. Conclusion: It is recommended that individuals with FRDA undergo regular screening for obstructive sleep apnea to identify the need for a sleep study and subsequent treatment if SDB is diagnosed.
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behavior; Neurosciences & Neurology; Rett syndrome; phenotype; mecp2 mutations; features; genotype; females; severity; hand function; video recording; stereotypic movement disorder; tone and motor problems; trajectory; characteristics; hand stereotypies
Description
Stereotypic hand movements are a feature of Rett Syndrome but few studies have observed their nature systematically. Video data in familiar settings were obtained on subjects (n = 144) identified from an Australian population-based database. I-land stereotypies were demonstrated by most subjects (94.4%), 15 categories were observed and midline wringing was seen in approximately 60% of subjects. There was a median of two stereotypies per subject but this number decreased with age. Clapping and mouthing of hands were more prevalent in girls younger than 8 years and wringing was more prevalent in women 19 years or older. Clapping was commoner in those with p.R306C and early truncating mutations, and much rarer in those with p.R106W, p.R270X, p.R168X. and p.R255X. Stereotypies tended to be less frequent in those with more severe mutations. Otherwise, there were no clear relationships between our categories of stereotypies and mutation. Approximately a quarter each had predominantly right and left handed stereotypies and for the remaining half, no clear laterality was seen. Results were similar for all cases and when restricted to those with a pathogenic mutation. Hand stereolypies changed with increasing age but limited relationships with MECP2 mutations were identified. (C) 2009 Movement Disorder Society
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Objective: Sleep disturbance and daytime restlessness are present in 50% to 80% of children with severe psychomotor impairment due to neurologic or other complex diseases. Although these issues severely impair the quality of life of the children and their families, they are not well addressed or managed by professionals. The lack of validated assessment tools prevents further research and the development of adequate therapies. Our aim is to develop and validate a sleep questionnaire for these children that could be used both for clinical management and systematic research. Methods: The sleep questionnaire for children with severe psychomotor impairment (Schlaffragebogen fur Kinder mit Neurologischen und Anderen Komplexen Erkrankungen, SNAKE) is based on expert opinion and consultation with parents. The psychometric quality of the questionnaire was assessed in a sample of 224 children with severe psychomotor impairment. Results: Confirmative factor analysis showed that SNAKE comprises of five factors (based on ICSD-2). Fit indices, analysis of item characteristics and convergent validity (coherence with measures of sleep [i.e., sleep efficiency]) and correlation with selected subscales of the Sleep Disturbance Scale for Children (SDSC) were good. Re-test analysis (n = 62) depicted high stability and good replication of validity. Conclusions: SNAKE is a reliable and valid tool for the diagnosis of sleep disturbances in children with severe psychomotor impairment. The SNAKE questionnaire is the first tool that addresses the specific relationship between sleep disturbance and severe disability in children. (c) 2013 Elsevier B.V. All rights reserved.
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Background: Rett syndrome (RTT) is a severe neurodevelopmental disorder characterized by regression of language and motor skills, cognitive impairment, and frequent seizures. Although the diagnostic criteria focus on communication, motor impairments, and hand stereotypies, behavioral abnormalities are a prevalent and disabling component of the RTT phenotype. Among these problematic behaviors, anxiety is a prominent symptom. While the introduction of the Rett Syndrome Behavioral Questionnaire (RSBQ) represented a major advancement in the field, no systematic characterization of anxious behavior using the RSBQ or other standardized measures has been reported. Methods: This study examined the profiles of anxious behavior in a sample of 74 girls with RTT, with a focus on identifying the instrument with the best psychometric properties in this population. The parent-rated RSBQ, Anxiety, Depression, and Mood Scale (ADAMS), and Aberrant Behavior Checklist-Community (ABC-C), two instruments previously employed in children with neurodevelopmental disorders, were analyzed in terms of score profiles, relationship with age and clinical severity, reliability, concurrent validity, and functional implications. The latter were determined by regression analyses with the Vineland Adaptive Behavior Scales-Second Edition (Vineland-II) and the Child Health Questionnaire (CHQ), a quality of life measure validated in RTT. Results: We found that scores on anxiety subscales were intermediate in range with respect to other behavioral constructs measured by the RSBQ, ADAMS, and ABC-C. Age did not affect scores, and severity of general anxiety was inversely correlated with clinical severity. We demonstrated that the internal consistency of the anxiety-related subscales were among the highest. Test-retest and intra-rater reliability was superior for the ADAMS subscales. Convergent and discriminant validity were measured by inter-scale correlations, which showed the best profile for the social anxiety subscales. Of these, only the ADAMS Social Avoidance showed correlation with quality of life. Conclusions: We conclude that anxiety-like behavior is a prominent component of RTT's behavioral phenotype, which affects predominantly children with less severe neurologic impairment and has functional consequences. Based on available data on standardized instruments, the ADAMS and in particular its Social Avoidance subscale has the best psychometric properties and functional correlates that make it suitable for clinical and research
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We obtained information about the behavioral, psychiatric, and functional status of 26 children (13 males, 13 females) with juvenile neuronal ceroid lipofuscinosis (JNCL; mean age 12y 3mo [SD 3y 4mo]; range 6y 9mo to 18y 8mo). Twenty-five children had visual impairment and 18 were known to have a positive seizure history before enrollment. Parents completed the Child Behavior Checklist, Scales of Independent Behavior Revised, and a structured interview to assess obsessive-compulsive symptoms. Participants exhibited a broad range of behavioral and psychiatric problems, rated as occurring frequently and/or as severe in more than half of the sample. Males and females did not differ with regard to the number of behavioral and psychiatric problems. Children were also limited in their ability to perform activities of daily living, including self-care, hygiene, socialization, and other age-appropriate tasks. Results provide a quantitative baseline for behavioral and psychiatric problems and functional level in JNCL, against which further decline can be measured. Longitudinal assessment of behavioral and psychiatric symptoms and functional abilities is continuing and will provide much-needed data on the natural history of JNCL.
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Children; Orthopedics; motor; Gait; Neurosciences & Neurology; walking; Sport Sciences; performance; concurrent task; Cri du Chat Syndrome; Dual-task; older-adults; parkinsons-disease; tone and motor problems; trajectory; characteristics
Description
Aim: To describe temporal and spatial gait characteristics in individuals with Cri du Chat syndrome (CdCS) and to explore the effects of performing concurrent manual tasks while walking. Methods: The gait parameters of 14 participants with CdCS (mean age 10.3, range 3-20 years) and 14 age matched controls (mean age 10.1, range 3-20 years) were collected using the GAITRite (R) instrumented walkway. All participants first walked without any concurrent tasks and then performed 2 motor dual task walking conditions (pitcher and tray). Results: Individuals with CdCS took more frequent, smaller steps than controls, but, on average, had a comparable gait speed. In addition, there was a significant task by group interaction. Participants decreased gait speed, decreased cadence, decreased step length, and increased% time in double limb support under dual task conditions compared to single task conditions. However, the age-matched controls altered their gait for both manual tasks, and the participants with CdCS only altered their gait for the tray task. Interpretation: Although individuals with CdCS ambulate with a comparable gait speed to age-matched controls under single task conditions, they did not significantly alter their gait when carrying a pitcher with a cup of water inside, like controls. It is not clear whether or not individuals with CdCS had difficulty attending to task demands or had difficulty modifying their gait. (C) 2016 Elsevier B.V. All rights reserved.
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Active List; Activity Indicators; Annual Report; Clinical Intervention Structuring; Neurosciences & Neurology; Pediatric Palliative Care; Regional Resources Teams
Description
Context. - The regional resource teams of pediatric palliative care, like any adult mobile palliative care team in France, have to realize an annual report including several indicators that are often imposed by the regional public health authorities. Our regional resource team of pediatric palliative care raised the question of the relevance and performance of the "active list'' (number of patients) as indicator of the clinical activity. Methodology. - All the situations met by our regional resource team of pediatric palliative between 2011 and 2012 were analyzed and then classified. Results. - Four levels of intervention were identified: The first level consists in answering the questions from the professionals: e.g. symptom management, ethical questions and issues, etc. At this level, the regional resource team of pediatric palliative does not meet the child nor his/her family. It often acts by specific interventions, such as telephone calls or meetings between teams. The second level corresponds to the intervention in collaboration with the specialized reference team. The regional resource team of pediatric palliative then meets the child and his family. The regional resource team of pediatric palliative provides support for professionals and the family on the questions of anticipation, clinical worsening, and/or ethical issues when realizing or omitting therapeutic acts. The hospital team remains the reference team. The third level involves the regional resource team of pediatric palliative in collaboration with the reference team but becomes progressively itself the reference team for the child, his family and other caregivers. This may occur in home-care based situations. This level includes that regional resource team of pediatric palliative often coordinates the home-care providers (nurses, general practitioner, etc.) and that its main activity is to support the families and the child. At this level, the regional resource team of pediatric palliative is called if needed as the first line team. Finally, the fourth level can be summed up as all situations for which the regional resource team of pediatric palliative is the only involved team, e.g. bereavement support. Conclusion. - The approach and the identification of the four levels describe more specifically the clinical activity of the regional resource teams of pediatric palliative in their various assumptions of responsibilities. Further on, it identifies more precisely the implication of all teams involved. Thinking in levels of implication is innovative and adjusted with clinical reality. The levels of intervention may change during the care pathway of each child. This tool for evaluation of the clinical activity finds an interest within our network of all regional resource teams of pediatric palliative. Perhaps its use could also be relevant for other palliative care networks or mobile teams. (C) 2017 Elsevier Masson SAS. All rights reserved.
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