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PM & R : the Journal of Injury,... Mar 2022Balance impairment is a common feature in people with cerebral palsy (CP), affecting the performance of daily-life and physical activities.
BACKGROUND
Balance impairment is a common feature in people with cerebral palsy (CP), affecting the performance of daily-life and physical activities.
OBJECTIVES
To (1) explore the absolute and relative intrasession reliability of two balance tests to assess dynamic and static balance in ambulant para-athletes with CP; (2) explore the relationships between the two balance tests to determine potential application in sport classification; (3) assess the differences between CP profiles (ie, spastic diplegia, athetosis/ataxia, and spastic hemiplegia) in comparison to those with a minimum impairment; and (4) compare the outcomes of the static and dynamic balance of ambulant para-athletes with CP regarding controls.
METHODS
A group of 129 male well-trained para-footballers with CP, classified as Level I according to the Gross Motor Function Classification System, participated in the present study. Static balance was assessed using the One-Leg Stance test, performed bilaterally on a force platform, and the dynamic balance was assessed in two conditions of the Tandem Walk test (TW): walking heel-toe contact over a 5 -m straight line and performing 10 steps.
RESULTS
Moderate-to-excellent intrasession reliability (intraclass correlation coefficient = 0.60-0.98) was obtained for all the measurements and groups. However, only small to moderate correlations were found between the dynamic and the static measurements of balance for the CP group when performing the One-Leg Stance test with the unimpaired or dominant leg (0.23 < r < 0.30; P < .01). The TW performed over 10 steps revealed more sensitivity to discriminate between CP profiles. Those para-athletes with ataxia/athetosis performed worse in all the tests whereas all CP profiles performed worse than the control group (P < .01).
CONCLUSIONS
Balance performance and postural control are constrained to a higher extent in those with impaired voluntary control due to ataxia or with involuntary contractions of the muscles due to athetosis.
Topics: Cerebral Palsy; Exercise; Hemiplegia; Humans; Male; Para-Athletes; Postural Balance; Reproducibility of Results
PubMed: 33599066
DOI: 10.1002/pmrj.12579 -
Neuropediatrics Oct 2021Paroxysmal dyskinesias (PD) are rare movement disorders characterized by recurrent attacks of dystonia, chorea, athetosis, or their combination, with large phenotypic...
Paroxysmal dyskinesias (PD) are rare movement disorders characterized by recurrent attacks of dystonia, chorea, athetosis, or their combination, with large phenotypic and genetic heterogeneity. 3-Hydroxy-isobutyryl-CoA hydrolase () deficiency is a neurodegenerative disease characterized in most patients by a continuous decline in psychomotor abilities or a secondary regression triggered by febrile infections and metabolic crises.We describe two PD patients from two pedigrees, both carrying a homozygous c.913A > G, p.Thr305Ala mutation in the gene, associated with an unusual clinical presentation. The first patient presented in the second year of life with right paroxysmal hemidystonia lasting for 30 minutes, without any loss of consciousness and without any triggering factor. The second patient has presented since the age of 3 recurrent exercise-induced PD episodes which have been described as abnormal equinovarus, contractures of the lower limbs, lasting for 1 to 4 hours, associated with choreic movements of the hands. Their neurological examination and metabolic screening were normal, while brain magnetic resonance imaging showed abnormal signal of the pallidi.We suggest that deficiency, through the accumulation of metabolic intermediates of the valine catabolic pathway, leads to a secondary defect in respiratory chain activity and pyruvate dehydrogenase () activity and to a broad phenotypic spectrum ranging from Leigh syndrome to milder phenotypes. The two patients presented herein expand the spectrum of the disease to include unusual paroxysmal phenotypes and deficiency should be considered in the diagnostic strategy of PD to enable adequate preventive treatment.
Topics: Abnormalities, Multiple; Amino Acid Metabolism, Inborn Errors; Chorea; Humans; Neurodegenerative Diseases; Thiolester Hydrolases
PubMed: 33506479
DOI: 10.1055/s-0040-1722678 -
BMJ Case Reports Dec 2020A 7-month-old-term male infant presented with cough, tachypnoea, hypoxaemia and post-tussive emesis. Clinical history was significant for respiratory failure and...
A 7-month-old-term male infant presented with cough, tachypnoea, hypoxaemia and post-tussive emesis. Clinical history was significant for respiratory failure and pulmonary hypertension in the neonatal period requiring assisted ventilation, congenital hypothyroidism, mild hypotonia, recurrent respiratory infections, hypoxaemia requiring supplemental oxygen and nasogastric tube feeds. Physical examination showed tachypnoea, coarse bilateral breath sounds and mild hypotonia. Chest radiograph revealed multifocal pulmonary opacities with coarse interstitial markings and right upper lobe atelectasis. Following antibiotic therapy for suspected aspiration pneumonia, chest CT scan was performed and showed multiple areas of pulmonary consolidation and scattered areas of bilateral ground-glass opacities. Genetic studies showed a large deletion of chromosome 14q13.1-14q21.1, encompassing the NK2 homeobox 1 () gene consistent with a diagnosis of brain-thyroid-lung (BTL) syndrome. Our case highlights the importance of genetic studies to diagnose BTL syndrome in infants with hypothyroidism, hypotonia and lung disease.
Topics: Amoxicillin-Potassium Clavulanate Combination; Athetosis; Chorea; Chromosome Deletion; Chromosomes, Human, Pair 14; Congenital Hypothyroidism; Enteral Nutrition; Fluid Therapy; Genetic Testing; Humans; Hypoxia; Infant; Intubation, Gastrointestinal; Lung; Male; Muscle Hypotonia; Oxygen; Respiratory Distress Syndrome, Newborn; Thyroid Nuclear Factor 1; Tomography, X-Ray Computed
PubMed: 33370995
DOI: 10.1136/bcr-2020-238466 -
Journal of Sports Sciences Aug 2021RaceRunning enables athletes with limited or no walking ability to propel themselves independently using a three-wheeled frame that has a saddle, handle bars and a chest...
Cluster analysis of impairment measures to inform an evidence-based classification structure in RaceRunning, a new World Para Athletics event for athletes with hypertonia, ataxia or athetosis.
RaceRunning enables athletes with limited or no walking ability to propel themselves independently using a three-wheeled frame that has a saddle, handle bars and a chest plate. For RaceRunning to be included as a para athletics event, an evidence-based classification system is required. This study assessed the impact of trunk control and lower limb impairment measures on RaceRunning performance and evaluated whether cluster analysis of these impairment measures produces a valid classification structure for RaceRunning. The Trunk Control Measurement Scale (TCMS), Selective Control Assessment of the Lower Extremity (SCALE), the Australian Spasticity Assessment Scale (ASAS), and knee extension were recorded for 26 RaceRunning athletes. Thirteen male and 13 female athletes aged 24 (SD = 7) years participated. All impairment measures were significantly correlated with performance (rho = 0.55-0.74). Using ASAS, SCALE, TCMS and knee extension as cluster variables in a two-step cluster analysis resulted in two clusters of athletes. Race speed and the impairment measures were significantly different between the clusters (p < 0.001). The findings of this study provide evidence for the utility of the selected impairment measures in an evidence-based classification system for RaceRunning athletes.
Topics: Adolescent; Adult; Ataxia; Athetosis; Athletic Performance; Brain Injury, Chronic; Cerebral Palsy; Cluster Analysis; Equipment Design; Female; Humans; Knee Joint; Lower Extremity; Male; Muscle Hypertonia; Muscle Spasticity; Muscle Strength; Range of Motion, Articular; Running; Sports Equipment; Sports for Persons with Disabilities; Torso; Young Adult
PubMed: 33337948
DOI: 10.1080/02640414.2020.1860360 -
Annals of Neurology Mar 2021We aimed to characterize the phenotypic spectrum and functional consequences associated with variants in the gene GABRB2, coding for the γ-aminobutyric acid type A...
OBJECTIVE
We aimed to characterize the phenotypic spectrum and functional consequences associated with variants in the gene GABRB2, coding for the γ-aminobutyric acid type A (GABA ) receptor subunit β2.
METHODS
We recruited and systematically evaluated 25 individuals with variants in GABRB2, 17 of whom are newly described and 8 previously reported with additional clinical data. Functional analysis was performed using a Xenopus laevis oocyte model system.
RESULTS
Our cohort of 25 individuals from 22 families with variants in GABRB2 demonstrated a range of epilepsy phenotypes from genetic generalized epilepsy to developmental and epileptic encephalopathy. Fifty-eight percent of individuals had pharmacoresistant epilepsy; response to medications targeting the GABAergic pathway was inconsistent. Developmental disability (present in 84%) ranged from mild intellectual disability to severe global disability; movement disorders (present in 44%) included choreoathetosis, dystonia, and ataxia. Disease-associated variants cluster in the extracellular N-terminus and transmembrane domains 1-3, with more severe phenotypes seen in association with variants in transmembrane domains 1 and 2 and the allosteric binding site between transmembrane domains 2 and 3. Functional analysis of 4 variants in transmembrane domains 1 or 2 (p.Ile246Thr, p.Pro252Leu, p.Ile288Ser, p.Val282Ala) revealed strongly reduced amplitudes of GABA-evoked anionic currents.
INTERPRETATION
GABRB2-related epilepsy ranges broadly in severity from genetic generalized epilepsy to developmental and epileptic encephalopathies. Developmental disability and movement disorder are key features. The phenotypic spectrum is comparable to other GABA receptor-encoding genes. Phenotypic severity varies by protein domain. Experimental evidence supports loss of GABAergic inhibition as the mechanism underlying GABRB2-associated neurodevelopmental disorders. ANN NEUROL 2021;89:573-586.
Topics: Adolescent; Adult; Animals; Ataxia; Athetosis; Child; Child, Preschool; Chorea; Cohort Studies; Developmental Disabilities; Drug Resistant Epilepsy; Dystonia; Epilepsy; Female; Genotype; Humans; Intellectual Disability; Male; Middle Aged; Movement Disorders; Mutation, Missense; Neurodevelopmental Disorders; Oocytes; Patch-Clamp Techniques; Phenotype; Protein Domains; Receptors, GABA-A; Xenopus laevis; Young Adult
PubMed: 33325057
DOI: 10.1002/ana.25985 -
International Journal of Environmental... Dec 2020Cerebral palsy (CP) football is a team para-sport practiced by para-athletes with eligible impairments of hypertonia, athetosis, and ataxia. This study aimed: (1) to...
Cerebral palsy (CP) football is a team para-sport practiced by para-athletes with eligible impairments of hypertonia, athetosis, and ataxia. This study aimed: (1) to describe the anthropometrical and body composition profiles of international CP para-footballers with different CP profiles (i.e., spastic diplegia, athetosis/ataxia, spastic hemiplegia, and minimum impairment); (2) to analyze the differences between both affected/nondominant and nonaffected/dominant sides; and (3) to compare the sample of international-level CP para-footballers ( = 141) with a sample of highly trained able-bodied footballers ( = 39). Anthropometric measures included four breadths, nine girths, and six skinfolds, while body composition was measured through fat mass (including Carter's, Faulkner's, and Withers' equations), muscle mass (Lee's equation), and bone mass (Rocha's and Martin's equations). This study found differences between the able-bodied footballers and the following impairment profiles: spastic diplegia (skinfolds); ataxia/athetosis (corrected calf of the nondominant side, and calf skinfolds for both sides); and spastic hemiplegia (all measurements excepting femur breadth, and thigh and ankle girths). No differences were found between para-athletes with minimum impairment and the able-bodied footballers. This study demonstrates that football players with or without physical impairments of hypertonia athetosis or ataxia may be considered homogeneous in shape when dominant size is compared. Besides, the study provides reference scores on anthropometric measures and body composition of international-level CP para-footballers that can help sports coaches and physical trainers to monitor physical fitness of their para-athletes.
Topics: Adult; Anthropometry; Body Composition; Cerebral Palsy; Environment; Humans; Soccer; Young Adult
PubMed: 33291750
DOI: 10.3390/ijerph17239071 -
A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders.Frontiers in Neurology 2020Inherited metabolic diseases or inborn errors of metabolism frequently manifest with both hyperkinetic (dystonia, chorea, myoclonus, ataxia, tremor, etc.) and... (Review)
Review
Inherited metabolic diseases or inborn errors of metabolism frequently manifest with both hyperkinetic (dystonia, chorea, myoclonus, ataxia, tremor, etc.) and hypokinetic (rigid-akinetic syndrome) movement disorders. The diagnosis of these diseases is in many cases difficult, because the same movement disorder can be caused by several diseases. Through a literature review, two hundred and thirty one inborn errors of metabolism presenting with movement disorders have been identified. Fifty-one percent of these diseases exhibits two or more movement disorders, of which ataxia and dystonia are the most frequent. Taking into account the wide range of these disorders, a methodical evaluation system needs to be stablished. This work proposes a six-step diagnostic algorithm for the identification of inborn errors of metabolism presenting with movement disorders comprising red flags, characterization of the movement disorders phenotype (type of movement disorder, age and nature of onset, distribution and temporal pattern) and other neurological and non-neurological signs, minimal biochemical investigation to diagnose treatable diseases, radiological patterns, genetic testing and ultimately, symptomatic, and disease-specific treatment. As a strong action, it is emphasized not to miss any treatable inborn error of metabolism through the algorithm.
PubMed: 33281718
DOI: 10.3389/fneur.2020.582160 -
Neurology(R) Neuroimmunology &... Nov 2020
Topics: Adolescent; Athetosis; CD40 Ligand; Chorea; Deep Brain Stimulation; Globus Pallidus; Humans; Hyper-IgM Immunodeficiency Syndrome; Magnetic Resonance Imaging; Male
PubMed: 33067350
DOI: 10.1212/NXI.0000000000000899 -
Zhonghua Er Ke Za Zhi = Chinese Journal... Oct 2020
Topics: Athetosis; Chorea; Congenital Hypothyroidism; Humans; Infant, Newborn; Respiratory Distress Syndrome, Newborn
PubMed: 32987468
DOI: 10.3760/cma.j.cn112140-20200118-00039 -
American Journal of Health-system... Sep 2020Tardive dyskinesia (TD) is a hyperkinetic movement disorder that results from exposure to dopamine receptor antagonists and/or first- and second-generation...
PURPOSE
Tardive dyskinesia (TD) is a hyperkinetic movement disorder that results from exposure to dopamine receptor antagonists and/or first- and second-generation antipsychotics. While cessation of the offending agent(s) through early detection is recommended, TD symptoms may be irreversible and require further treatment. Deutetrabenazine is approved by the Food and Drug Administration for treatment of persistent TD. Irreversible orofacial dyskinesia, a common affliction in TD, can progress to severe oropharyngeal dysphagia requiring alternate means of nutrition and medication delivery. Enteral administration of crushed deutetrabenazine has not been studied, and its use to treat TD in patients who cannot take medications by mouth has not been reported previously.
SUMMARY
A 38-year-old female patient with a history of bipolar I disorder and TD secondary to atypical antipsychotic exposure developed worsening athetosis, hyperkinesia, and severe orofacial dyskinesia after initiation of ziprasidone. The patient had no improvement after discontinuation of atypical antipsychotics and required percutaneous endoscopic gastrostomy (PEG) placement for nutrition due to persistent aspiration and inability to tolerate oral nutrition. Despite a lack of information regarding administration of crushed deutetrabenazine tablets via PEG, that form of therapy was initiated and resulted in improvement of TD symptoms without noticeable adverse effects.
CONCLUSION
TD can result in significant orofacial dyskinesia with impaired delivery of needed medications and nutrition. We describe a case in which a patient with severe TD and orofacial dyskinesia experienced improvement of symptoms with use of crushed deutetrabenazine. Larger studies to further evaluate use of crushed deutetrabenazine for treatment of TD are needed.
Topics: Adult; Antipsychotic Agents; Bipolar Disorder; Female; Gastrostomy; Humans; Severity of Illness Index; Tablets; Tardive Dyskinesia; Tetrabenazine
PubMed: 32761113
DOI: 10.1093/ajhp/zxaa205