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Zhonghua Er Ke Za Zhi = Chinese Journal... Jun 2021To summarize the genotype and phenotype of epilepsy in patients with interferon regulatory factor 2 binding protein-like (IRF2BPL) gene variants. Data of 6 epilepsy...
To summarize the genotype and phenotype of epilepsy in patients with interferon regulatory factor 2 binding protein-like (IRF2BPL) gene variants. Data of 6 epilepsy patients with IRF2BPL gene variants seen from May 2017 to September 2020 in the Department of Pediatrics of Peking University First Hospital were retrospectively collected. The clinical characteristics and genetic test results were analyzed. A total of 6 patients with IRF2BPL gene variants (1 boy and 5 girls) were identified. The age of seizure onset was from 3.5 to 7.0 months. Epileptic spasms were observed in 6 patients, tonic seizures and tonic-spasms were observed in 1 patient and focal seizure was observed in 1 patient. All 6 patients presented with developmental delay, 5 patients presented with hypotonia, and 2 patients presented with dysphagia. Microcephaly,nystagmus,chorea and athetosis were observed in 1 patient. The electroencephalography (EEG) showed slow background activity in 2 patients. Hypsarrhythmia was observed in all 6 patients. Focal epileptic discharges were observed in 2 patients. Epileptic spasms were monitored in all 6 patients. Focal seizure and tonic-spasm were monitored in 2 patients respectively. The brain magnetic resonance imaging (MRI) showed cerebral atrophy and dysplasia of the corpus callosum in 1 patient, delayed myelination in 2 patients and normal in 3 patients. Two patients had missense variants c.1280C>T/p.L474F and c.1420C>T/p.S427L, 3 patients had frameshift variants c.232delG/p.V78Sfs*73, c.244del/p.A82Pfs*70 and c.283-308del/p.Ala95Thrfs*29, 1 patient had non-frameshift deletion variant c.1453-c.1455delTTC/p.F485del, and all of the 6 cases had de novo variants. All patients were diagnosed with infantile spasms. The last follow-up age ranged from 1 year to 3.8 years. Four patients achieved seizure-free and 2 patients still had frequent seizures after the treatment with antiepileptic drugs (adrenocorticotropic hormone, topiramate, and vigabatrin). IRF2BPL gene variants are mainly de novo. The age of seizure onset is mainly in infancy, and epilepsy and developmental delay are the main clinical manifestations. Infantile spasm is the main phenotype, some patients have hypotonia and dysphagia. Cerebral atrophy can be observed in a few patients.
Topics: Carrier Proteins; Child; Electroencephalography; Epilepsy; Female; Humans; Infant; Male; Nuclear Proteins; Retrospective Studies; Seizures; Spasms, Infantile
PubMed: 34102826
DOI: 10.3760/cma.j.cn112140-20201219-01114 -
Journal of Sports Sciences Aug 2021The current protocol for classifying Para swimmers with hypertonia, ataxia and athetosis involves a physical assessment where the individual's ability to coordinate...
Improving the objectivity of the current World Para Swimming motor coordination test for swimmers with hypertonia, ataxia and athetosis using measures of movement smoothness, rhythm and accuracy.
The current protocol for classifying Para swimmers with hypertonia, ataxia and athetosis involves a physical assessment where the individual's ability to coordinate their limbs is scored by subjective clinical judgment. The lack of objective measurement renders the current test unsuitable for evidence-based classification. This study evaluated a revised version of the Para swimming assessment for motor coordination, incorporating practical, objective measures of movement smoothness, rhythm error and accuracy. Nineteen Para athletes with hypertonia and 19 non-disabled participants performed 30 s trials of bilateral alternating shoulder flexion-extension at 30 bpm and 120 bpm. Accelerometry was used to quantify movement smoothness; rhythm error and accuracy were obtained from video. Para athletes presented significantly less smooth movement and higher rhythm error than the non-disabled participants (p < 0.05). Random forest algorithm successfully classified 89% of participants with hypertonia during out-of-bag predictions. The most important predictors in classifying participants were movement smoothness at both movement speeds, and rhythm error at 120 bpm. Our results suggest objective measures of movement smoothness and rhythm error included in the current motor coordination test protocols can be used to infer impairment in Para swimmers with hypertonia. Further research is merited to establish the relationship of these measures with swimming performance.
Topics: Accelerometry; Adult; Algorithms; Ataxia; Athetosis; Athletic Performance; Biomechanical Phenomena; Cerebral Palsy; Female; Humans; Male; Movement; Muscle Hypertonia; Para-Athletes; Physical Functional Performance; Psychomotor Performance; Range of Motion, Articular; Shoulder; Sports for Persons with Disabilities; Swimming; Video Recording; Young Adult
PubMed: 34092196
DOI: 10.1080/02640414.2021.1935114 -
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 -
Indian Pediatrics Sep 2021Movement disorders represent a common presentation in pediatrics and are often a source of clinical and diagnostic dilemmas. In this review, we provide an overview of... (Review)
Review
CONTEXT
Movement disorders represent a common presentation in pediatrics and are often a source of clinical and diagnostic dilemmas. In this review, we provide an overview of common causes along with simplified clinical approach and management options for major movement disorders.
SOURCES
This narrative review is based on contemporary evidence and personal experience. Medline was searched for recent advances, current understanding and consensus on classification, clinical features, diagnosis and treatment.
RESULTS
Movement disorders are classified as hyperkinetic and hypokinetic disorders, the latter being rare in childhood. The hyperkinetic disorders include dystonia, chorea, athetosis, tics and tremor, stereotypies, myoclonus, startle syndromes and functional disorders. Some movement disorders can be benign and developmental. A large proportion of conditions are genetic in origin with a guarded prognosis. Some of the conditions may be post-infectious, immune-mediated or drug induced. Multiple types of movement disorders are present in many conditions. The age at onset, type and distribution of abnormal movements and presence of associated neurological and systemic features help in narrowing the differential diagnosis. The pharmacotherapy of movement disorders is complex and evolving.
CONCLUSION
A synopsis of movement disorders presenting in pediatric age has been provided, incorporating the latest evidence. A simplified approach for clinical diagnosis has been developed for dystonia and chorea.
Topics: Child; Diagnosis, Differential; Dystonia; Dystonic Disorders; Humans; Movement Disorders; Tremor
PubMed: 34016797
DOI: No ID Found -
QJM : Monthly Journal of the... Jun 2022Acute extrapyramidal movement disorders in dialysis patients are rare, inconsistently defined and have uncertain aetiology and prognosis.
BACKGROUND
Acute extrapyramidal movement disorders in dialysis patients are rare, inconsistently defined and have uncertain aetiology and prognosis.
AIM
Define diagnostic criteria, prognosis and risk factors.
DESIGN AND METHODS
Retrospective case series review of 20 patients (14 female, mean age 62 years) receiving dialysis for a median of 15 (interquartile range 4-35) months who presented with acute parkinsonism (AP = 11) or chorea/athetosis (CA = 9).
RESULTS
All patients had type 2 diabetes (HbA1c 6.8 ± 1.0) and had received metformin. Lactic acidosis was present in 2 patients at presentation and serum lactate was elevated in 7/15 patients tested. No patient had abnormal copper or thyroid metabolism and 5/8 patients tested returned marginal abnormalities in heavy metal screening. Magnetic resonance imaging (MRI) revealed characteristic bilateral symmetric T2 hyperintensity of the basal ganglia (BG), predominantly putamen and globus pallidus (the lentiform nucleus) and more extensive involvement of the external and internal capsules in patients with AP presentation. Post-mortem demonstrated cytotoxic necrosis of the BG. Therapy included thiamine, intensive dialysis and cessation of metformin. Two patients died acutely, nine recovered and nine had residual symptoms. Median survival did not differ by presentation: AP 24 [95% confidence interval (CI) 21-27] and CA 33 (95% CI 32-35) months, P = 0.21.
CONCLUSIONS
There are two distinct clinical extrapyramidal movement disorders associated with specific diagnostic MRI imaging that support the diagnosis of the extrapyramidal syndromes of chronic kidney disease and dialysis. The associations with diabetes, metformin and metabolic acidosis suggest a common pathogenic mechanism but require additional study. Early recognition and treatment may improve outcomes.
Topics: Acidosis, Lactic; Basal Ganglia Diseases; Child, Preschool; Diabetes Mellitus, Type 2; Female; Humans; Infant; Metformin; Movement Disorders; Prognosis; Renal Dialysis; Renal Insufficiency, Chronic; Retrospective Studies; Risk Factors; Syndrome
PubMed: 34010386
DOI: 10.1093/qjmed/hcab140 -
International Journal of Environmental... Apr 2021This study aimed (1) to determine the appropriateness of using decision trees as a classification tool for determining the allocation of sport classes of... (Observational Study)
Observational Study
This study aimed (1) to determine the appropriateness of using decision trees as a classification tool for determining the allocation of sport classes of para-footballers with "moderate vs. mild" cerebral palsy (CP) profiles of spastic diplegia/hemiplegia and ataxia/athetosis based on observational outcomes by international classifiers, and (2) to identify what key observational features were relevant to discriminating among different impairment levels. A sample of 16 experienced international classifiers from five world regions participated in this study, observing activity limitation of a final sample of 21 international CP footballers when performing 16 gross-motor and sports-specific tests for balance ( = 3), coordination ( = 5), running, accelerations and decelerations ( = 3), jumping ( = 4), and change of direction ability ( = 1). For the overall sample (336 observations), the model included eight decision nodes and 24 branches with 17 leaves, including side-step, side-stepping, and triple hop as the tests with the best sensitivity (precision = 67.0%). For those with spastic diplegia (64 observations: Two nodes, six branches with five leaves), the range of motion in the side-step test and the balance in the tandem walk tests correctly classified 89.1% of the observations. In those with athetosis and ataxia (96 observations), the model included five nodes, 15 branches, and 11 leaves (176 observations, precision = 86.5%). For those with spastic hemiplegia, a model containing two nodes, six branches, and five leaves had 90.9% accuracy, including observational features of balance in the side-step test and symmetry in the side-stepping test. The observational tool used in this study, based on the impact of specific impairment measurements of hypertonia, athetosis, and ataxia, can be used to determine which assessments are more appropriate for discriminating between functional profiles in para-footballers with CP.
Topics: Cerebral Palsy; Decision Trees; Hemiplegia; Humans; Running; Soccer
PubMed: 33921841
DOI: 10.3390/ijerph18084320 -
Cerebellum (London, England) Feb 2022Ataxia telangiectasia (A-T) is a progressive and life-limiting disease associated with cerebellar ataxia due to progressive cerebellar degeneration. In addition to... (Clinical Trial)
Clinical Trial
Ataxia telangiectasia (A-T) is a progressive and life-limiting disease associated with cerebellar ataxia due to progressive cerebellar degeneration. In addition to ataxia, which is described in detail, the presence of chorea, dystonia, oculomotor apraxia, athetosis, parkinsonism, and myoclonia are typical manifestations of the disease. The study aimed to evaluate the specificity and sensitivity of neurofilament light chain (NfL) as a biomarker of neurodegeneration in relation to SARA score. In this prospective trial, one visit of 42 A-T patients aged 1.3-25.6 years (mean 11.6 ± 7.3 years) was performed, in which NfL was determined from serum by ELISA. Additionally, a neurological examination of the patients was performed. Blood was collected from 19 healthy volunteers ≥ 12 years of age. We found significantly increased levels of NfL in patients with A-T compared to healthy controls (21.5 ± 3.6 pg/mL vs. 9.3 ± 0.49 pg/mL, p ≤ 0.01). There was a significant correlation of NfL with age, AFP, and SARA. NfL is a new potential progression biomarker in blood for neurodegeneration in A-T which increases with age.
Topics: Adolescent; Adult; Ataxia Telangiectasia; Biomarkers; Cerebellar Ataxia; Child; Child, Preschool; Humans; Infant; Intermediate Filaments; Neurofilament Proteins; Prospective Studies; Young Adult
PubMed: 33893614
DOI: 10.1007/s12311-021-01257-4 -
BMJ Case Reports Mar 2021Argininosuccinate lyase (ASL) deficiency is a rare autosomal recessive urea cycle disorder. The severe neonatal-onset form is characterised by hyperammonaemia in the...
Argininosuccinate lyase (ASL) deficiency is a rare autosomal recessive urea cycle disorder. The severe neonatal-onset form is characterised by hyperammonaemia in the first days of life and manifests with a variety of severe symptoms. However, an index of suspicion for additional or alternative diagnoses must be maintained when the patient's presentation is out of keeping with expected manifestations and course. We present a case of a neonate with ASL deficiency and concomitant hypotonia, severe respiratory distress, pulmonary hypertension, systemic hypotension and congenital hypothyroidism. The patient was investigated and subsequently diagnosed with brain-lung-thyroid syndrome, caused by a mutation in the NKX2-1 gene.
Topics: Argininosuccinic Aciduria; Athetosis; Chorea; Congenital Hypothyroidism; Humans; Infant, Newborn; Respiratory Distress Syndrome, Newborn
PubMed: 33789861
DOI: 10.1136/bcr-2020-241032 -
Clinical Genetics Jul 2021
Topics: Adult; Aged; Amino Acid Sequence; Athetosis; Cell Line, Tumor; Child; Chorea; Congenital Hypothyroidism; Female; HeLa Cells; Humans; Male; Middle Aged; Mutation; Respiratory Distress Syndrome, Newborn; Thyroid Nuclear Factor 1
PubMed: 33778944
DOI: 10.1111/cge.13961 -
International Journal of Sports... Sep 2021The objectives of this study were to analyze whether there were differences among para-footballers with different types and degrees of brain impairment (ie, bilateral...
PURPOSE
The objectives of this study were to analyze whether there were differences among para-footballers with different types and degrees of brain impairment (ie, bilateral spasticity, athetosis/ataxia, unilateral spasticity, minimum impairment criteria, or no impairment) in performing 3 football-specific tests requiring ball dribbling, to analyze whether there was an association among the results obtained in the 3 tests, and to determine whether the performance in the tests was associated with competitive level, level of training, or years' experience in para-footballers with cerebral palsy (CP).
METHODS
A total of 123 footballers took part in the study, 87 of whom were footballers with CP and 36 who were without impairment. Both groups were assessed in 3 football-specific tests (Stop and Go, Turning and Dribbling, and the Illinois Agility Test).
RESULTS
The results showed that the footballers without impairment recorded a better performance in all tests (P < .01) in comparison with the CP players. No significant differences in test performance were observed among the CP players from different competitive levels. However, significant differences (P < .01) were observed between players with diplegia or athetosis/ataxia compared with players with hemiplegia or minimum impairment level. Performance in the tests did not correlate with years of football experience, weekly strength training sessions, or specific football training in the footballers with CP (P = .12-.95).
CONCLUSIONS
These findings suggest the possible inclusion of these tests in the classification process for footballers with CP because they discriminate among functional classes and are resistant to training and competitive level.
Topics: Humans; Athletic Performance; Cerebral Palsy; Environment; Soccer
PubMed: 33662930
DOI: 10.1123/ijspp.2020-0370