Transitional Care for Young People with Neurological Disorders: A Scoping Review with A Focus on Patients with Movement Disorders
pediatrics; neurological disorders; transitional care
Childhood-onset movement disorders represent a heterogenous group of conditions. Given the complexity of these disorders, the transition of care from pediatric to adult medicine is an important consideration. We performed a scoping review of the literature on transitional care in chronic neurological disease, exploring key transitional issues and proposed transitional care models. Our aim was to describe the current knowledge and gaps about the transition process of young adults with chronic neurological disorders, paying special attention to childhood onset movement disorders. A total of 64 articles were included in the qualitative synthesis; 56 articles reported on transitional care issues, and 8 articles reported on transitional care models. Only 2 articles included patients with movement disorders. The following 4 main transitional issues were identified following synthesis of the available literature: (1) inadequate preparation for the transition process, (2) inappropriate and inconsistent transition practices, (3) inadequate adult services, and (4) heightened emotional response surrounding transition. Of the reported transitional care models, multidisciplinary ambulatory care was the most common approach. In studies evaluating patient-related outcomes, positive health, educational, and vocational outcomes were found. The available literature provides insights on issues that can arise during transition that should be addressed to improve patient and caregiver comfort and satisfaction with care. Further research is needed to evaluate how transitional care programs affect outcomes and their cost effectiveness. More studies are required to determine the needs and outcomes specific to patients with childhood onset movement disorders. © 2020 International Parkinson and Movement Disorder Society.
McGovern E; Pringsheim T; Medina A; Cosentino C; Shalash A; Sardar Z; Fung VSC; Kurian MA; Roze E
Movement Disorders
2020
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).
<a href="http://doi.org/10.1002/mds.28381" target="_blank" rel="noreferrer noopener">10.1002/mds.28381</a>
Movement disorders in inherited metabolic diseases in children
chorea; dystonias; genetic; inherited metabolic diseases; movement disorders; pediatrics; tremor
Movement disorders are one of the important neurological manifestations of inherited metabolic disorders. Important clues to the presence of an underlying inborn error of metabolism are early onset, presence of neuroregression or degeneration, parental consanguinity, sibling affection, paroxysmal events, waxing and waning course, skin or hair changes, absence of a perinatal insult or any structural cause, and presence of identifiable triggers. It is particularly important to recognize this class of movement disorders as several of them are eminently treatable and may often need disease-specific therapy besides symptomatic treatment. The current review focusses on the movement disorders associated with inherited metabolic defects in children, with emphasis on treatable disorders. Copyright © 2006 - 2020 Annals of Indian Academy of Neurology Published by Wolters Kluwer - Medknow.
Saini A; Sharma S
Annals of Indian Academy of Neurology
2020
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).
<a href="http://doi.org/10.4103/aian.AIAN_612_19" target="_blank" rel="noreferrer noopener">10.4103/aian.AIAN_612_19</a>
A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia
tone and motor problems; ataxia; ataxia telangectasia; pharmacologic intervention; betamethasone;
No controlled studies exist regarding the pharmaceutical reduction of ataxia symptoms in ataxia telangiectasia (A-T). In a multicenter, double-blind, randomized, placebo-controlled crossover trial, oral betamethasone (BETA) and placebo were compared in terms of their reduction of ataxia symptoms as assessed with the International Cooperative Ataxia Rating Scale (ICARS). In this study of 13 A-T children, betamethasone reduced the ICARS total score by a median of 13 points in the intent-to-treat population and 16 points in the per-protocol population (ie, median percent decreases of ataxia symptoms of 28% and 31%, respectively). In conclusion, Oral betamethasone could be a promising therapy to relieve ataxia symptoms in A-T patients; however, long-term effectiveness and safety must be established. (Current Controlled Trials, number ISRCTN08774933). © 2012 Movement Disorder Society.
Zannolli R; Buoni S; Betti G; Salvucci S; Plebani A; Soresina A; Pietrogrande M C; Martino S; Leuzzi V; Finocchi A; Micheli R; Rossi L N; Brusco A; Misiani F; Fois A; Hayek J; Kelly C; Chessa L
Movement Disorders
2012
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<a href="http://doi.org/10.1002/mds.25126" target="_blank" rel="noreferrer noopener">10.1002/mds.25126</a>
Variations of Stereotypies in Individuals With Rett Syndrome: A Nationwide Cross-Sectional Study in Taiwan
Psychology; epilepsy; disorders; movement disorders; Rett syndrome; girls; autism; mecp2 mutations; MECP2; Behavioral Sciences; manifestations; CDKL5; chinese patients; ganglia; motor stereotypies; stereotypies; tone and motor problems; trajectory; characteristics; stereotypy; hair pulling; bruxism; retropulsion; lip protrusion
Individuals with Rett syndrome (RTT) can have variable manifestations of stereotypies. In this nation-wide cross-sectional study, we recruited all individuals with RTT in Taiwan diagnosed as RTT by neurologists based on genetic findings and diagnostic criteria. The data were collected using questionnaire. A total 43 cases of typical RTT and 15 cases of atypical RTT, aged from 2.1 to 40.1 years, were enrolled. They included 3 (5.2%) in stage II, 42 (72.4%) in stage III, and 13 (22.4%) in stage IV. All individuals presented with at least one stereotypy. Individuals with atypical RTT had more varied stereotypies (mean: 1466) compared to those with typical RTT (mean: 965) (P=0.003). Flapping (73.3%) and wringing (58.1%) were the most common hand stereotypies in atypical and typical RTT, respectively. Compared with typical RTT, hair pulling, bruxism, retropulsion, and protrusion of lips were more common in atypical RTT (P=0.003, P=0.006, P=0.003 and <0.001, respectively). The number of stereotypies did not differ among different stages, clinical severities, and hand functions. Although there were no age-related changes in stereotypies in atypical RTT, flapping (P=0.012), clapping (P=0.044), and mouthing with single hand (P=0.009) were significantly more prevalent in individuals aged <10 years with typical RTT, and they decreased after 10 years. In conclusion, our study showed that the stereotypical movements varied in typical and atypical RTT, implying the heterogeneous nature of the disease and the pathogenic mechanisms of RTT with atypical features. (C) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
Wong L C; Hung P L; Jan T Y; Lee W T
Autism Research
2017
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<a href="http://doi.org/10.1002/aur.1774" target="_blank" rel="noreferrer noopener">10.1002/aur.1774</a>
Evolution of Stereotypies in Adolescents and Women with Rett Syndrome
Neurosciences & Neurology; Rett syndrome; hand stereotypies; retardation; movement-disorders; adult age; movement disorder; tone and motor problems; trajectory; characteristics; stereotypy
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
Vignoli A; La Briola F; Canevini M P
Movement Disorders
2009
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<a href="http://doi.org/10.1002/mds.22595" target="_blank" rel="noreferrer noopener">10.1002/mds.22595</a>
Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type
Neurosciences & Neurology; dystonia; Rett syndrome; females; rigidity; stereotypies; chorea; Parkinson; tremor; tone and motor problems; trajectory; characteristics; movement disorders
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.
Temudo T; Ramos E; Dias K; Barbot C; Vieira J P; Moreira A; Calado E; Carrilho I; Oliveira G; Levy A; Fonseca M; Cabral A; Cabral P; Monteiro J P; Borges L; Gomes R; Santos M; Sequeiros J; Maciel P
Movement Disorders
2008
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<a href="http://doi.org/10.1002/mds.22115" target="_blank" rel="noreferrer noopener">10.1002/mds.22115</a>
Sleep dysfunction in Rett syndrome: lack of age related decrease in sleep duration
Age Factors; Child; Humans; Adolescent; Cohort Studies; Female; Child Preschool; Brain; Sleep; Epilepsy; Movement Disorders; Sleep Wake Disorders; Rett Syndrome; sleep disturbance/disorders; trajectory; characteristics
The sleep patterns of a cohort of 83 Rett syndrome females were characterized using a sleep diary for 7 consecutive days and nights and compared with normative sleep data. The mean total sleep time of the cohort was 10.75 h, daytime sleep 0.77 h, sleep efficiency 89.7%, and sleep latency 0.52 h. When subjects were categorized according to age and Rett syndrome classification, there was no significant difference in their sleep characteristics. There was a significant difference in the percentage predicted total sleep time (P<0.001) and Z scores for total sleep time (P<0.001), when subjects were categorized according to age and compared with normal children. The Rett syndrome subjects in this study did not show the age related decrease in total and daytime sleep time seen in normal children. The immature sleep pattern demonstrated in this cohort, may be a consequence of arrested brain development.
Peat J; Leonard H; Christodoulou J; Ellaway C
Brain and Development
2001
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<a href="http://doi.org/10.1016/s0387-7604(01)00356-4" target="_blank" rel="noreferrer noopener">10.1016/s0387-7604(01)00356-4</a>
Dystonia and dyskinesia in glutaric aciduria type I: clinical heterogeneity and therapeutic considerations
Male; Infant Newborn; Child; Humans; Adolescent; Female; Child Preschool; Infant; Neuropsychological Tests; Combined Modality Therapy; Tomography X-Ray Computed; Neurologic Examination; Disability Evaluation; Brain/pathology/physiopathology; Glutaryl-CoA Dehydrogenase; Oxidoreductases Acting on CH-CH Group Donors; Amino Acid Metabolism Inborn Errors/genetics/physiopathology/therapy; Dysarthria/genetics/physiopathology/therapy; Dystonia/genetics/physiopathology/therapy; Glutarates/urine; Intellectual Disability/genetics/physiopathology/therapy; Movement Disorders/genetics/physiopathology/therapy; Oxidoreductases/deficiency; tone and motor problems; glutaric acidemia type I; trajectory; characteristics; dystonic-dyskinesia disorder; hyperkinetic disorder
Glutaric aciduria type I (GA-I) is an inborn error in the degradation of lysine, hydroxylysine, and tryptophan due to a deficiency of glutaryl-CoA dehydrogenase. Glutaric, 3-OH-glutaric, and glutaconic acids are excreted in the urine, particularly during intercurrent illness. The enzyme may be assayed in leukocytes, cultured fibroblasts and chorionic villi. Twelve new cases, 9 months-16 years of age, are reported, comprising all known cases of GA-I in Sweden and Norway. Ten had a severe dystonic-dyskinetic disorder, one had a mild hyperkinetic disorder, and one was asymptomatic. Two children died in a state of hyperthermia. Carnitine deficiency and malnutrition developed in patients with severe dystonia and dysphagia, which necessitated substitution and gastrostomy. A slowly progressive dyskinetic disorder developed in spite of adequate early dietary treatment in one subject. Macrocephaly was found in three. Computed tomography and magnetic resonance investigations in 10 showed deep bitemporal spaces in 7. Neuropsychological testing of 8 of 12 subjects demonstrated receptive language function to be superior to expressive language and motor function. Cognitive functions were obviously less affected than motor functions. A review of 57 pooled cases showed that a severe dystonic syndrome developed in 77%, a mild extrapyramidal syndrome in 10%, and 12% were asymptomatic. This disorder may pass undetected in the cerebral palsy and mentally retarded child and adult populations. Repeated urine examinations of organic acids in the urine and enzyme assay may be necessary to confirm GA-I.
Kyllerman M; Skjeldal O H; Lundberg M; Holme I; Jellum E; von Dobeln U; Fossen A; Carlsson G
Movement Disorders
1994
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<a href="http://doi.org/10.1002/mds.870090105" target="_blank" rel="noreferrer noopener">10.1002/mds.870090105</a>
Clinical trial of piracetam in patients with myoclonus: nationwide multiinstitution study in Japan. The Myoclonus/Piracetam Study Group
tone and motor problems; myoclonus; epilepsy; seizures; pharmacologic intervention; piracetam
Sixty patients with disabling myoclonus excluding mainly spinal myoclonus were treated by piracetam as an open-labeled study, and myoclonus score, neurological symptoms, functional disability, and intensity of myoclonus were scored before and after treatment, including a blinded video inspection. Electrophysiological correlation also was investigated before and after treatment. Piracetam was effective in myoclonus, especially that of cortical origin, in both monotherapy and polytherapy. Piracetam also had positive benefits on gait ataxia and convulsions but not on dysarthria, and feeding and hand writing improved much more significantly. Psychologically significant improvement was seen in decreased motivation, sleep disturbance, attention deficit, and depression, all of which might be possibly secondary benefits associated with improvement of myoclonus. There was no positive correlation between clinical and electrophysiological improvement. Tolerance was good, and side effects were transient. However, hematological abnormalities observed in at least two patients in the present study should be kept in mind when relatively large doses of piracetam are administered, especially in combination with other antimyoclonic drugs.
Ikeda A; Shibasaki H; Tashiro K; Mizuno Y; Kimura J
Movement Disorders
1996
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<a href="http://doi.org/10.1002/mds.870110615" target="_blank" rel="noreferrer noopener">10.1002/mds.870110615</a>
Deep brain stimulation for dystonia: A meta-analysis
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
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.
Holloway K L; Baron M S; Brown R; Cifu D X; Carne W; Ramakrishnan V
Neuromodulation
2006
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<a href="http://doi.org/10.1111/j.1525-1403.2006.00067.x" target="_blank" rel="noreferrer noopener">10.1111/j.1525-1403.2006.00067.x</a>
Hand stereotypies distinguish Rett syndrome from autism disorder
children; Neurosciences & Neurology; childhood; Rett syndrome; autism; mecp2; movements; hand stereotypies; motor stereotypies; stereotypies; developmental disorders; tone and motor problems; trajectory; characteristics; mouthing
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
Goldman S; Temudo T
Movement Disorders
2012
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<a href="http://doi.org/10.1002/mds.25057" target="_blank" rel="noreferrer noopener">10.1002/mds.25057</a>
Rett syndrome and associated movement disorders
Child; Humans; Adult; Adolescent; Female; Child Preschool; Infant; Movement Disorders/etiology/physiopathology; Rett Syndrome/complications/physiopathology; Stereotyped Behavior; tone and motor problems; Rett syndrome; trajectory; characteristics; stereotypy; gait disturbance
Rett syndrome, a progressive neurodegenerative disorder described only in female subjects, is manifested by a wide spectrum of behavioral and motor abnormalities. We studied 32 patients with this disorder, ages 30 months to 28 years old, and characterized their extrapyramidal disturbance. The most common motor abnormalities were stereotyped movements and gait disturbance, seen in all patients. Bruxism, oculogyric crises, parkinsonism, and dystonia were also common, but myoclonus and choreoathetosis were seen only infrequently. The hyperkinetic movement disorders tended to dominate in younger patients, while bradykinetic disorders were more evident in the older patients. This study provides evidence that movement disorders seen in Rett syndrome reflect age-related neurodegenerative changes in the basal ganglia.
FitzGerald P M; Jankovic J; Percy A K
Movement Disorders
1990
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<a href="http://doi.org/10.1002/mds.870050303" target="_blank" rel="noreferrer noopener">10.1002/mds.870050303</a>
Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study
Cross-Sectional Studies; Middle Aged; Aged; Young Adult; Child; Humans; Adult; Adolescent; Disabled Persons; Reproducibility of Results; Pilot Projects; Mental Disorders/et [Etiology]; Severity of Illness Index; Dystonia/di [Diagnosis]; Pantothenate Kinase-Associated Neurodegeneration/di [Diagnosis]; Parkinsonian Disorders/di [Diagnosis]; Cognitive Dysfunction/di [Diagnosis]; Cognitive Dysfunction/et [Etiology]; Dystonia/et [Etiology]; Mental Disorders/di [Diagnosis]; Ocular Motility Disorders/di [Diagnosis]; Ocular Motility Disorders/et [Etiology]; Pantothenate Kinase-Associated Neurodegeneration/co [Complications]; Pantothenate Kinase-Associated Neurodegeneration/ge [Genetics]; Parkinsonian Disorders/et [Etiology]; behavior; tone and motor problems; IND; tool development; scale development; PKANDRS;
BACKGROUND: Pantothenate kinase-associated neurodegeneration is a progressive neurological disorder occurring in both childhood and adulthood. The objective of this study was to design and pilot-test a disease-specific clinical rating scale for the assessment of patients with pantothenate kinase-associated neurodegeneration. METHODS: In this international cross-sectional study, patients were examined at the referral centers following a standardized protocol. The motor examination was filmed, allowing 3 independent specialists in movement disorders to analyze 28 patients for interrater reliability assessment. The scale included 34 items (maximal score, 135) encompassing 6 subscales for cognition, behavior, disability, parkinsonism, dystonia, and other neurological signs. RESULTS: Forty-seven genetically confirmed patients (30 +/- 17 years; range, 6-77 years) were examined with the scale (mean score, 62 +/- 21; range, 20-106). Dystonia with prominent cranial involvement and atypical parkinsonian features were present in all patients. Other common signs were cognitive impairment, psychiatric features, and slow and hypometric saccades. Dystonia, parkinsonism, and other neurological features had a moderate to strong correlation with disability. The scale showed good internal consistency for the total scale (Cronbach's alpha = 0.87). On interrater analysis, weighted kappa values (0.30-0.93) showed substantial or excellent agreement in 85% of the items. The scale also discriminated a subgroup of homozygous c.1583C>T patients with lower scores, supporting construct validity for the scale. CONCLUSIONS: The proposed scale seems to be a reliable and valid instrument for the assessment of pediatric and adult patients with pantothenate kinase-associated neurodegeneration. Additional validation studies with a larger sample size will be required to confirm the present results and to complete the scale validation testing. © 2017 International Parkinson and Movement Disorder Society.
Darling A; Tello C; Marti M J; Garrido C; Aguilera-Albesa S; Tomas V M; Gaston I; Madruga M; Gonzalez G L; Ramos L J; Pujol M; Gavilan I T; Tustin K; Lin J P; Zorzi G; Nardocci N; Martorell L; Lorenzo S G; Gutierrez F; Garcia P J; Vela L; Hernandez L C; Ortigoza E J D; Marti S L; Moreira F; Coelho M; Correia G L; Castro C A; Ferreira J; Pires P; Costa C; Rego P; Magalhaes M; Stamelou M; Cuadras P D; Rodriguez-Blazquez C; Martinez-Martin P; Lupo V; Stefanis L; Pons R; Espinos C; Temudo T; Perez D B
Movement Disorders
2017
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<a href="http://doi.org/10.1002/mds.27129" target="_blank" rel="noreferrer noopener">10.1002/mds.27129</a>
Stereotypical Hand Movements in 144 Subjects with Rett Syndrome from the Population-Based Australian Database
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
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
Carter P; Downs J; Bebbington A; Williams S; Jacoby P; Kaufmann W E; Leonard H
Movement Disorders
2010
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<a href="http://doi.org/10.1002/mds.22851" target="_blank" rel="noreferrer noopener">10.1002/mds.22851</a>
International Cooperative Ataxia Rating Scale (ICARS): Appropriate for studies of Friedreich's ataxia?
tone and motor problems; friedreich's ataxia; tool development; scale development
Clinicians require scientifically rigorous, clinically meaningful rating scales to evaluate the health impact of disease and treatment that cannot be measured using conventional laboratory instruments. This study evaluated the psychometric properties of the International Cooperative Ataxia Rating Scale (ICARS), a commonly used clinician-rated measure, in Friedreich's ataxia (FRDA). People with confirmed FRDA were assessed by using the ICARS. Two assumptions of its measurement model were tested: the legitimacy of reporting IC-ARS scores in FRDA, and the acceptability, reliability, and validity of total and subscale scores. Seventy-seven people with FRDA were assessed. The ICARS total score effectively satisfied all psychometric criteria tested. The posture and gait disturbances subscale also performed well. The other three subscales did not pass standard criteria for tests of scaling assumptions, reliability, and validity. This small study recommends only the use of the ICARS total score as a measure of FRDA. However, the extent to which this score quantifies the true extent of FRDA remains uncertain as our validity testing was limited, partly by the lack of appropriate validating measures. Further validity testing, and examination of responsiveness, is required before the ICARS can be recommended as an outcome measure for treatment trials of FDRA. © 2005 Movement Disorder Society.
Cano S J; Hobart J C; Hart P E; Korlipara L V P; Schapira A H V; Cooper J M
Movement Disorders
2005
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<a href="http://doi.org/10.1002/mds.20651" target="_blank" rel="noreferrer noopener">10.1002/mds.20651</a>
Comparison of three clinical rating scales in Friedreich ataxia (FRDA)
tone and motor problems; Friedreich's ataxia; trajectory; characteristics; ataxia
To test the validity and reliability of the scale for the assessment and rating of ataxia (SARA) in Friedreich ataxia (FRDA). SARA is limited to eight items and can be performed rapidly. Ninety-six patients with a molecular genetic diagnosis of FRDA were rated using three different clinical scales, the FRDA Rating Scale (FARS), the International Cooperative Ataxia Rating Scale (ICARS), and SARA. Despite considerable discrepancies in scale size and subscale structure, SARA total scores were significantly correlated with ICARS (r = 0.953, P < 0.0001) and FARS (r = 0.938, P < 0.0001) total scores. SARA total scores also correlated with the activities of daily living (ADL, r = 0.929, P < 0.0001). Although originally developed for the use in dominantly inherited ataxias, which are primarily ataxias of the cerebellar type, SARA can also be used successfully to assess afferent ataxia, which is the predominant form in FRDA. Because SARA is characterized by high interrater reliability and practicability, SARA is applicable and well suited forclinical trials of FRDA.
Bürk K; Mälzig U; Wolf S; Heck S; Dimitriadis K; Schmitz-Hübsch T; Hering S; Lindig T M; Haug V; Timmann D; Degen I; Kruse B; Dörr J M; Ratzka S; Ivo A; Schols L; Boesch S; Klockgether T; Klopstock T; Schulz J B
Movement Disorders
2009
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).
<a href="http://doi.org/10.1002/mds.22660" target="_blank" rel="noreferrer noopener">10.1002/mds.22660</a>
Levodopa is not a useful treatment for Lesch-Nyhan disease
behavior problems; tone and motor problems; Lesch-Nyhan syndrome; pharmacologic intervention; levodopa; levodopa-dopa; carbidopa
Lesch-Nyhan disease (LND) is characterized by dystonia, cognitive abnormalities, and self-injurious behavior. No effective therapies are available. LND is associated with a presynaptic dopaminergic deficit, but the reported effects of dopamine replacement therapy are conflicting. The current prospective open-label study assesses the effects of levodopa on both neurological and behavioral features of LND. All 6 study participants discontinued levodopa early, due to lack of effect and sometimes worsening of motor function. The results provide important clues for pathophysiological mechanisms and suggestions for future treatment options.Copyright © 2011 Movement Disorder Society.
Bloem B R; Schretlen D J; Jinnah H A; Visser J E
Movement Disorders
2011
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).
<a href="http://doi.org/10.1002/mds.23478" target="_blank" rel="noreferrer noopener">10.1002/mds.23478</a>
Observations on Huntington's Chorea in Childhood
Child; Prognosis; Mental Disorders; Movement Disorders; Medical; Q3 Literature Search; Diagnosis; Radiography; Pathology; CHOREA; CHOREA; Genetics; Genetics; HEREDITARY; Human; VENTRICULOGRAPHY
1965
MARKHAM CH; JWKNOX
The Journal Of Pediatrics
1965
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).
Journal Article
<a href="http://doi.org/10.1016/s0022-3476(65)80303-1" target="_blank" rel="noreferrer">10.1016/s0022-3476(65)80303-1</a>