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European Journal of Neurology Sep 2019Congenital disorders of glycosylation (CDG) represent an increasing number of rare inherited metabolic diseases associated with abnormal glycan metabolism and disease...
BACKGROUND AND PURPOSE
Congenital disorders of glycosylation (CDG) represent an increasing number of rare inherited metabolic diseases associated with abnormal glycan metabolism and disease onset in infancy or early childhood. Most CDG are multisystemic diseases mainly affecting the central nervous system. The aim of the current study was to investigate hyperkinetic movement disorders in patients affected by CDG and to characterize phenomenology based on CDG subtypes.
METHODS
Subjects were identified from a cohort of patients with CDG who were referred to the University Hospital of Catania, Italy. Patients were evaluated by neurologists with expertise in movement disorders and videotaped using a standardized protocol.
RESULTS
A variety of hyperkinetic movement disorders was detected in eight unrelated CDG patients. Involuntary movements were generally observed early in childhood, maintaining a clinical stability over time. Distribution ranged from a generalized, especially in younger subjects, to a segmental/multifocal involvement. In patients with phosphomannomutase 2 CDG, the principal movement disorders included dystonia and choreo-athetosis. In patients affected by other CDG types, the movement disorders ranged from pure generalized chorea to mixed movement disorders including dystonia and complex stereotypies.
CONCLUSIONS
Hyperkinetic movement disorder is a key clinical feature in patients with CDG. CDG should be considered in the differential diagnosis of childhood-onset dyskinesia, especially when associated with ataxia, developmental delay, intellectual disability, autism or seizure disorder.
Topics: Adolescent; Adult; Child; Child, Preschool; Cohort Studies; Congenital Disorders of Glycosylation; Female; Humans; Hyperkinesis; Italy; Male; Movement Disorders
PubMed: 31132195
DOI: 10.1111/ene.14007 -
Pediatric Neurology Apr 2023Dyskinetic cerebral palsy (DCP), a lifelong neurological disorder beginning in early childhood, manifests with hyperkinetic movements and dystonia. The Movement...
BACKGROUND
Dyskinetic cerebral palsy (DCP), a lifelong neurological disorder beginning in early childhood, manifests with hyperkinetic movements and dystonia. The Movement Disorder-Childhood Rating Scale (MD-CRS) is a clinician-reported outcome measure assessing the intensity of movement disorders and their effect on daily life in pediatric patients. Content validity of clinical outcome assessments is key to accurately capturing patient perspective. Evidence demonstrating content validity of the MD-CRS in patients with DCP is needed. This study captures input from patients with DCP and their caregivers regarding the content validity of the MD-CRS.
METHODS
This qualitative, noninterventional, cross-sectional study included interviews with children/adolescents (aged six to 18 years) with DCP and caregivers of children with DCP. Participants were asked to describe body regions and daily functions affected by DCP. Caregivers also reviewed MD-CRS Part I to evaluate the relevance of the items and corresponding response options. Descriptions of DCP were coded and mapped to MD-CRS items and response options. Caregiver feedback on MD-CRS Part I was analyzed using inductive content analysis.
RESULTS
Eight patients and 12 caregivers were interviewed. Participants confirmed that the body regions and activities listed in the MD-CRS were affected by DCP and that involuntary movements interfered with all motor, oral/verbal, self-care, and video protocol activities. Caregivers endorsed the response options for 12 of 15 items in MD-CRS Part I and suggested clarifications for others.
CONCLUSIONS
Participants confirmed that affected body regions and activities listed in the MD-CRS were relevant to their experience with DCP, demonstrating the content validity of this tool in children/adolescents with DCP.
Topics: Adolescent; Child; Humans; Child, Preschool; Cerebral Palsy; Cross-Sectional Studies; Movement Disorders; Dystonic Disorders; Dyskinesias
PubMed: 36774682
DOI: 10.1016/j.pediatrneurol.2022.12.005 -
European Journal of Paediatric... May 2024Impaired upper limb movements are a key feature in dyskinetic cerebral palsy (CP). However, information on how specific movement patterns relate to manual ability,...
The relationship between manual ability, dystonia and choreoathetosis severity and upper limb movement patterns during reaching and grasping in children and young adults with dyskinetic cerebral palsy.
INTRODUCTION
Impaired upper limb movements are a key feature in dyskinetic cerebral palsy (CP). However, information on how specific movement patterns relate to manual ability, performance and underlying movement disorders is lacking. Insight in these associations may contribute to targeted upper limb management in dyskinetic CP. This study aimed to explore associations between deviant upper limb movement patterns and (1) manual ability, (2) severity of dystonia/choreoathetosis, and (3) movement time/trajectory deviation during reaching and grasping.
PARTICIPANTS/METHODS
Participants underwent three-dimensional upper limb analysis during reaching forwards (RF), reaching sideways (RS) and reach-and-grasp vertical (RGV) as well as clinical assessment. Canonical correlation and regression analysis with statistical parametric mapping were used to explore associations between clinical/performance parameters and movement patterns (mean and variability).
RESULTS
Thirty individuals with dyskinetic CP participated (mean age 16±5 y; 20 girls). Lower manual ability was related to higher variability in wrist flexion/extension during RF and RS early in the reaching cycle (p < 0.05). Higher dystonia severity was associated with higher mean wrist flexion (40-82 % of the reaching cycle; p = 0.004) and higher variability in wrist flexion/extension (31-75 %; p < 0.001) and deviation (2-14 %; p = 0.007/60-73 %; p = 0.006) during RF. Choreoathetosis severity was associated with higher elbow pro/supination variability (12-19 %; p = 0.009) during RGV. Trajectory deviation was associated with wrist and elbow movement variability (p < 0.05).
CONCLUSION
Current novel analysis of upper limb movement patterns and respective timings allows to detect joint angles and periods in the movement cycle wherein associations with clinical parameters occur. These associations are not present at each joint level, nor during the full movement cycle. This knowledge should be considered for individualized treatment strategies.
Topics: Humans; Male; Female; Cerebral Palsy; Adolescent; Upper Extremity; Child; Young Adult; Dystonia; Severity of Illness Index; Hand Strength; Athetosis; Movement
PubMed: 38614013
DOI: 10.1016/j.ejpn.2024.04.001 -
Indian Journal of Orthopaedics 2017Orthopedic surgery (OS) plays an important role in the management of cerebral palsy (CP). The objectives of OS are to optimize functions and prevent deformity. Newer...
Orthopedic surgery (OS) plays an important role in the management of cerebral palsy (CP). The objectives of OS are to optimize functions and prevent deformity. Newer developments in OS for CP include emphasis on hip surveillance, minimally invasive procedures, use of external fixators instead of plates and screws, better understanding of lever arm dysfunctions (that can only be corrected by bony OS), orthopedic selective spasticity-control surgery, and single-event multilevel lever arm restoration and anti spasticity surgery, which have led to significant improvements in gross motor function and ambulation, especially in spastic quadriplegia, athetosis, and dystonia. The results of OS can be dramatic and life altering for the person with CP and their caregivers if it is performed meticulously by a specialized surgical team, at the appropriate age, for the correct indications, employing sound biomechanical principles and is followed by physician-led, protocol based, intensive, multidisciplinary, institutional rehabilitation, and long term followup. However, OS can be a double-edged sword, and if performed less than optimally, and without the supporting multidisciplinary medical and rehabilitation team, expertise and infrastructure, it often leads to significant functional worsening of the person with CP, including irretrievable loss of previous ambulatory capacity. OS must be integrated into the long term management of the person with CP and should be anticipated and planned at the optimal time and not viewed as a "last resort" intervention or failure of rehabilitation. This instructional course lecture reviews the relevant contemporary principles and techniques of OS in CP.
PubMed: 28566775
DOI: 10.4103/ortho.IJOrtho_197_16 -
European Journal of Paediatric... Mar 2017To relate dystonia and choreoathetosis with activity, participation and quality of life (QOL) in children and youth with dyskinetic Cerebral Palsy (CP).
AIM
To relate dystonia and choreoathetosis with activity, participation and quality of life (QOL) in children and youth with dyskinetic Cerebral Palsy (CP).
METHODS
Fifty-four participants with dyskinetic CP (mean age 14y6m, SD 4y2m, range 6-22y) were included. The Dyskinesia Impairment Scale (DIS) was used to evaluate dystonia and choreoathetosis. Activity, participation and quality of life (QOL) were assessed with the Gross Motor Function Measure (GMFM), the Functional Mobility Scale (FMS), the Jebsen-Taylor Hand Function Test (JTT), the ABILHAND-Kids Questionnaire (ABIL-K), the Life Habits Kids (LIFE-H) and the Quality of Life Questionnaire for children with CP (CP-QOL). Spearman's rank correlation coefficient (r) was used to assess the relationship between the movement disorders and activity, participation and QOL measures.
RESULTS
Significant negative correlations were found between dystonia and the activity scales with Spearman's rank correlation coefficient (r) varying between -0.65 (95% CI = -0.78 to -0.46) and -0.71 (95% CI = -0,82 to -0.55). Correlations were also found with the LIFE-H (r = -0.43; 95%CI = -0.64 to -0.17) and the CP-QOL (r = -0.32; 95%CI = -0.56 to -0.03). As far as choreoathetosis is concerned, no or only weak relationships were found with the activity, participation and quality of life scales.
INTERPRETATION
This cross-sectional study is the first to examine the relationship of dystonia and choreoathetosis in dyskinetic CP with the level of activity, participation and QOL. The results revealed dystonia has a higher impact on activity, participation and quality of life than choreoathetosis. These findings seem to suggest it is necessary to first focus on dystonia reducing intervention strategies and secondly on choreoathetosis.
Topics: Adolescent; Athetosis; Cerebral Palsy; Child; Chorea; Cross-Sectional Studies; Dystonia; Exercise; Female; Humans; Male; Quality of Life; Severity of Illness Index; Social Participation; Surveys and Questionnaires; Young Adult
PubMed: 27707657
DOI: 10.1016/j.ejpn.2016.09.003 -
International Journal of Sports Medicine May 2023The International Paralympic Committee athlete classification code mandates sports to have defined minimum impairment criteria, describing the minimum level of an...
The International Paralympic Committee athlete classification code mandates sports to have defined minimum impairment criteria, describing the minimum level of an eligible impairment an athlete must possess, to be able to participate in that sport. The aim of this study was to establish stakeholders' consensus for the minimum impairment criteria in wheelchair basketball. From a pool of 48 expert stakeholders (identified via an international medical and scientific working group), 39 completed a 4-round Delphi survey. Questions were answered on the method of assessing each eligible impairment, and the level of impairment that should constitute the minimum impairment criteria. This study indicated where stakeholder consensus existed and noted that consensus was developed for impaired muscle power, impaired passive range of motion, leg length difference, hypertonia and ataxia. No consensus was found for limb deficiency and athetosis. Participants raised concerns with using subjective measurement scales for assessing certain impairments, whilst also calling for more quantitative research to be conducted into the level of impairment that should constitute the minimum impairment criteria. For these research findings to form practical minimum impairment criteria that are part of a wheelchair basketball classification system, it is required to examine their feasibility by conducting further research.
Topics: Humans; Basketball; Disabled Persons; Athletes; Para-Athletes; Wheelchairs
PubMed: 36543264
DOI: 10.1055/a-2003-0429 -
Brain and Nerve = Shinkei Kenkyu No... Jan 2023Etymologically, dyskinesia is a combination of the prefix "dys-," which means 'abnormality' and the suffix "-kinesia," which means 'movement.' In a broad sense,...
Etymologically, dyskinesia is a combination of the prefix "dys-," which means 'abnormality' and the suffix "-kinesia," which means 'movement.' In a broad sense, dyskinesia indicates hyperkinetic involuntary movements. In a narrow sense, as a general term, dyskinesia refers to combinations of one or more of the following movements: chorea, dystonia, tremor, ballism, athetosis, tics, and myoclonus. In this article, we describe the pathogenesis, epidemiology, and treatment of idiopathic (oral) and tardive dyskinesia.
Topics: Humans; Tardive Dyskinesia; Chorea; Dyskinesias; Tremor; Dystonia
PubMed: 36574970
DOI: 10.11477/mf.1416202276 -
Neurological Sciences : Official... Jan 2022Adult-onset sporadic chorea includes a wide and heterogeneous group of conditions whose differential diagnosis and treatments are often challenging and extensive.
BACKGROUND
Adult-onset sporadic chorea includes a wide and heterogeneous group of conditions whose differential diagnosis and treatments are often challenging and extensive.
OBJECTIVES
To analyse retrospectively cases of adult-onset sporadic chorea from a single Italian centre to provide insights for a practical approach in the management of these patients.
METHODS
A total of 11,071 medical charts from a 9-year period (2012-2020) were reviewed, identifying 28 patients with adult-onset sporadic chorea (genetic forms excluded). All available data regarding phenomenology, diagnostic workup, aetiology, treatments, and long-term outcome from this cohort were collected and analysed.
RESULTS
Adult-onset sporadic chorea occurred more frequently in females and presented with an acute-subacute onset. Cerebrovascular diseases accounted for 68% of aetiology; further causes were structural brain lesions, internal diseases, and other movement disorder syndromes. Clinical course was mild, with spontaneous resolution or minimal disturbances in 82% of cases. Neuroimaging was fundamental to diagnose 76% of adult-onset sporadic chorea, an appropriate clinical examination contributed to the 14% of diagnoses, whereas basic laboratory tests to the 10%.
CONCLUSIONS
Revision of real-world data of adult-onset sporadic chorea patients from a single Italian cohort suggests that an accurate clinical examination, neuroimaging, and routine laboratory tests are useful to identify those cases underlying potentially severe but treatable conditions. Although in the majority of cases adult-onset sporadic chorea has mild clinical course and good response to symptomatic treatments, it is essential to run a fast diagnostic workup.
Topics: Adult; Cerebrovascular Disorders; Chorea; Diagnosis, Differential; Female; Humans; Movement Disorders; Retrospective Studies
PubMed: 34041635
DOI: 10.1007/s10072-021-05332-w -
Pediatrics Dec 2014To compare the patterns of motor type and gross motor functional severity in preschool-aged children with cerebral palsy (CP) in Bangladesh and Australia. (Comparative Study)
Comparative Study
OBJECTIVES
To compare the patterns of motor type and gross motor functional severity in preschool-aged children with cerebral palsy (CP) in Bangladesh and Australia.
METHODS
We used comparison of 2 prospective studies. A total of 300 children with CP were aged 18 to 36 months, 219 Australian children (mean age, 26.6 months; 141 males) recruited through tertiary and community services, and 81 clinic-attendees born in Bangladesh (mean age, 27.5 months; 50 males). All children had diagnosis confirmed by an Australian physician, and birth and developmental history collected on the Physician Checklist. All children were classified by the same raters between countries using the Gross Motor Function Classification System (GMFCS), and motor type and distribution.
RESULTS
There were more children from GMFCS I-II in the Australian sample (GMFCS I, P < .01; III, P < .01; V, P = .03). The patterns of motor type also differed significantly with more spasticity and less dyskinetic types in the Australian sample (spasticity, P < .01; dystonia, P < .01; athetosis, P < .01). Birth risk factors were more common in the Bangladesh sample, with risk factors of low Apgar scores (Australia, P < .01), lethargy/seizures (Australia, P = .01), and term birth (Bangladesh, P = .03) associated with poorer gross motor function. Cognitive impairments were significantly more common in the Bangladesh children (P < .01), and visual impairments more common in Australia (P < .01).
CONCLUSIONS
Patterns of functional severity, motor type, comorbidities, etiology, and environmental risk factors differed markedly between settings. Our results contribute to understanding the patterns of CP in low-resource settings, and may assist in optimizing service delivery and prioritizing appropriate early interventions for children with CP in these settings.
Topics: Bangladesh; Cerebral Palsy; Child, Preschool; Cohort Studies; Cross-Cultural Comparison; Cross-Sectional Studies; Developing Countries; Disability Evaluation; Female; Health Resources; Humans; Infant; Male; Mobility Limitation; Patient Admission; Prospective Studies; Queensland; Risk Factors
PubMed: 25422013
DOI: 10.1542/peds.2014-1926 -
Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification.Movement Disorders : Official Journal... Aug 2014Paroxysmal movement disorders are a heterogeneous group of conditions manifesting as episodic dyskinesia with sudden onset and lasting a variable duration. Based on the... (Review)
Review
Paroxysmal movement disorders are a heterogeneous group of conditions manifesting as episodic dyskinesia with sudden onset and lasting a variable duration. Based on the difference of precipitating factors, three forms are clearly recognized, namely, paroxysmal kinesigenic (PKD), non-kinesigenic (PNKD), and exercise induced (PED). The elucidation of the genetic cause of various forms of paroxysmal dyskinesia has led to better clinical definitions based on genotype-phenotype correlations in the familial forms. However, it has been increasingly recognized that (1) there is a marked pleiotropy of mutations in such genes with still expanding clinical spectra; and (2) not all patients clinically presenting with either PKD, PNKD, or PED have mutations in these genes. We aimed to review the clinical features of 500 genetically proven cases published to date. Based on our results, it is clear that there is not a complete phenotypic-genotypic correlation, and therefore we suggest an algorithm to lead the genetic analyses. Given the fact that the reliability of current clinical categorization is not entirely valid, we further propose a novel classification for paroxysmal dyskinesias, which takes into account the recent genetic discoveries in this field.
Topics: Chorea; Female; Genetic Association Studies; Humans; Male; Mutation; Nerve Tissue Proteins; PubMed
PubMed: 24963779
DOI: 10.1002/mds.25933