Child Neurology: KMT2B -Related Dystonia in a Young Child With Worsening Gait Abnormality

Neurology, Journal Year: 2023, Volume and Issue: 101(7), P. 328 - 332

Published: April 11, 2023

gene-related dystonia (DYT-KMT2B) is a primarily childhood-onset movement disorder that usually starts with lower limb progressing into generalized dystonia. Our patient described in this study experienced difficulty gaining weight, laryngomalacia, and feeding difficulties during infancy later developed gait difficulties, frequent falls, toe walking. Gait assessment revealed prominent bilateral intoeing, intermittent ankle inversion, extension of left leg. At times, the seemed to be spastic. Whole-exome sequencing novel de novo heterozygous likely pathogenic variant, c.7913 T > A (p.V2638E),

Language: Английский

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Awareness of Phymill treatment for cerebral palsy kids among university students’ perspective

International Journal of Public Health Science (IJPHS), Journal Year: 2024, Volume and Issue: 13(2), P. 986 - 986

Published: Feb. 28, 2024

Cerebral palsy (CP) kids are a group of disorders that affect their mobility. This health condition is somewhat crucial disability and requires treatment to have better lifestyle as they grow older. It important acknowledge the existence this CP ways battle or treat it. Currently, physio-treadmill (PhyMill) well developed for kids. In study, we focus on quantitative survey was conducted predictors knowledge towards PhyMill among university students, observe awareness based ergonomics, biomechanics, safety aspects using PhyMill. The results showed huge percentage students aware how know if an individual experiencing disability. responses function shown stimulate conditioning healthier in patients with condition. responsive feedback also shows comfortable, user-friendly, good inventions by significance study would explore possibility enhance performance patient treatment.

Language: Английский

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Vitamin D and childhood disability: diseases of the nervous system

Sanitarnyj vrač (Sanitary Doctor), Journal Year: 2024, Volume and Issue: 4, P. 262 - 275

Published: April 19, 2024

Child disability associated with diseases of the nervous system, main cause which is cerebral palsy (CP), often accompanied by an insufficient level and high prevalence vitamin D deficiency, but in our opinion, practicing physicians health officials at all levels pay attention to this problem, therefore, paper devoted study influence on children resulting from system. We statistically investigated association between deficiency municipalities Khanty-Mansiysk Autonomous Okrug — Yugra number cases childhood due system disease 2021, using anonymized results 31,596 measurements residents autonomous okrug, gratuitously provided us INVITRO-Ural LLC, whose staff authors express their deep gratitude to. The calculations demonstrated presence a directly proportional relationship incidence as result severe territory Khanty-Mansi Yugra. largely pregnancy abnormalities. Many researchers have occurrence preterm labor low birth weight newborn normal gestational age. analysis indicates great course pregnancy, since pregnant women D, does not ensure full development fetus, increased various pathologies mother child. Taking supplements prescribed doctor can be useful for palsy. former need it favorable outcome latter increase bone mineral density improve body’s immune defense against variety diseases. To make recommendations amount daily dosage duration preparations, accurate knowledge its initial patient’s blood serum required, predetermines mandatory monitoring 25(OH)D patients

Language: Английский

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Approach to Dystonia Versus Spasticity in Children: A Case Report

Clinical Pediatrics, Journal Year: 2024, Volume and Issue: unknown

Published: June 16, 2024

Language: Английский

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Clinical Phenotypes and Etiological Risk Factors in Children with Cerebral Palsy: A Retrospective Study

Iranian Journal of Pediatrics, Journal Year: 2024, Volume and Issue: 34(6)

Published: Sept. 3, 2024

Background: Cerebral palsy is a motor impairment syndrome that arises from lesion in the developing brain. The condition varies based on timing of lesion, as well differences clinical presentation, location, and severity. Objectives: aim this study to determine features patients with cerebral palsy, identify associated risk factors, analyze cranial MRI findings relation different types palsy. Methods: This retrospectively evaluated medical records children diagnosed Data collected included demographic information, details potential relevant abnormalities during pregnancy, birth, neonatal period, comorbidities, findings, classifications impairments. Results: mean age 202 was 8.02 years, male predominance (60.4%). most common type observed spastic accounting for 81.6% cases. frequent finding white matter damage immaturity, present 36.1% patients, while 8.4% cases had normal results. Epilepsy comorbidity, affecting 50.5% patients. White immaturity commonly diparesis, identified factors these prematurity, low birth weight, oligohydramnios, multiple sepsis/meningitis. Spastic tetraparesis frequently linked miscellaneous such term polyhydramnios, asphyxia/resuscitation, history convulsions. Focal infarction/hemorrhage often hemiparesis, basal ganglia-thalamus seen choreoathetotic dystonic In vaginal delivery hyperbilirubinemia were factors. Cerebellar malformations ataxic Conclusions: study, it determined can serve valuable guide identifying Additionally, disease severity, accompanying comorbidities found vary according specific

Language: Английский

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Neuromuscular impairments of cerebral palsy: contributions to gait abnormalities and implications for treatment

Frontiers in Human Neuroscience, Journal Year: 2024, Volume and Issue: 18

Published: Sept. 18, 2024

Identification of neuromuscular impairments in cerebral palsy (CP) is essential to providing effective treatment. However, clinical recognition CP and their contribution gait abnormalities limited, resulting suboptimal treatment outcomes. While the most common childhood movement disorder, evaluations often do not accurately identify delineate primary secondary musculoskeletal or specific impact on mobility. Here we discuss that arise from early brain injury progressive impairments, with a focus spastic CP, form CP. Spastic characterized by four interrelated impairments: 1. muscle weakness, 2. short muscle-tendon units due slow growth relative skeletal growth, 3. spasticity increased sensitivity stretch, 4. impaired selective motor control including flexor extensor synergies. Specific events are affected delineation can improve evaluation guide targeted treatment, prevent deformities Emerging information neural correlates provides clinician more complete context which evaluate develop plans. Specifically, addressing reducing important goals. This perspective mechanisms underlying aims inform strategically, research priorities provide treatments for

Language: Английский

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Aerobic fitness in children with cerebral palsy compared to typically developing peers: A systematic review and meta-analysis

Brazilian Journal of Physical Therapy, Journal Year: 2024, Volume and Issue: 28(6), P. 101142 - 101142

Published: Nov. 1, 2024

In the public health domain, aerobic fitness is an important predictor of both and disease.

Language: Английский

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How Is Cerebral Palsy Different from Other Childhood Neurological Disorders?

Journal of Pediatric Neuropsychology, Journal Year: 2023, Volume and Issue: 9(2), P. 64 - 71

Published: March 14, 2023

Language: Английский

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Correlating magnetic resonance imaging characteristics with motor outcome in cerebral palsy children with white matter injury

Nepal Journal of Neuroscience, Journal Year: 2023, Volume and Issue: 20(2), P. 28 - 34

Published: July 21, 2023

Introduction: Cerebral palsy (CP) is the term used to describe individuals with a movement disorder resulting from non-progressive disturbance developing brain. The diagnosis of CP based on presence motor deficit, and they manifest reduced capacity. most widely utilized classification system for severity limitations gross function (GMFCS). Material Methods: We tried white matter injury Magnetic Resonance Imaging (MRI) in children cerebral irrespective clinical subtype. also studied if there was association between MRI outcomes-gross Expanded Revised(GMFCS E &R). It an observational, Cross sectional Descriptive study analytical wing aged 6 months 12 years age carried out 8 months. Children diagnosed have history examination were enrolled study. Results: A total 50 our Majority sample <5years old (29) males (31). found that symmetrical involvement, severe loss hemisphere callosal thinning strongest predictors poor function. Bilateral, extensive WM (white matter) more likely result quadriplegia, whereas volume posterior-mid frequently resulted diplegia. Asymmetrical involvement associated less hemispheric than WMI (White injury). Cysts, deep grey abnormality, Wallerian change PLIC (Posterior limb Internal Capsule) peduncles all commonly seen unilateral asymmetric patterns WMI. All functioned at GMFCS levels I or II III bilateral wheeled mobility (GMFCS IV–V). Motor outcomes asymmetrical fell those MRI. Conclusion: Laterality/ symmetry along extent location can predict palsy.

Language: Английский

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UMA CAUSA RARA DE ABDOME AGUDO OBSTRUTIVO: FITOBEZOAR JEJUNAL

Published: July 31, 2023

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