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1.
Pediatr Neurol ; 155: 26-32, 2024 Mar 20.
Artigo em Inglês | MEDLINE | ID: mdl-38581726

RESUMO

BACKGROUND: To identify if a predetermined set of potential risk factors are associated with spastic diplegic cerebral palsy (SDCP) in term-born children. METHODS: This is a case-control study with cases (n = 134) extracted from the Canadian Cerebral Palsy Registry (CCPR) and controls (n = 1950) from the Alberta Pregnancy Outcomes and Nutrition (APrON) study. Our primary variable was the SDCP phenotype in term-born children. Possible risk factors were selected a priori and include extreme maternal age (<19 or >35 years), pregnancy complications, maternal disease, substance use, perinatal infection, mode of delivery, perinatal adversity (i.e., neonatal encephalopathy presumably on the basis of intrapartum hypoxia-ischemia), sex, and birth weight. Multivariable analyses were used to calculate odds ratios (ORs) and 95% confidence intervals (CIs). RESULTS: Multivariable analysis revealed associations between term-born SDCP and pregnancy complications (OR = 4.73; 95% CI = 1.91 to 10.56), maternal disease (OR = 2.52; 95% CI = 1.57 to 3.93), substance use (OR = 3.11; 95% CI = 2.10 to 4.55), perinatal infection (OR = 2.72; 95% CI 1.32 to 5.10), Caesarean section (OR = 2.35; 95% CI = 1.62 to 3.40), and perinatal adversity (OR = 2.91; 95% CI = 1.94 to 4.50). Multiple regression analysis revealed associations between SDCP and pregnancy complications (OR = 3.28; 95% CI 1.20 to 8.15), maternal disease (OR = 2.52; 95% CI 1.50 to 4.12), substance use (OR = 3.59; 95% CI 2.37 to 5.40), perinatal infection (OR = 3.78, 95% CI 1.71 to 7.72), Caesarean section (OR = 2.72; 95% CI 1.82 to 4.03), and perinatal adversity (OR = 4.16; 95% CI 2.67 to 6.70). INTERPRETATION: Antenatal (pregnancy complications, maternal disease, substance use) and perinatal (infections, Caesarean section, and perinatal adversity) risk factors are associated with an increased risk of SDCP in term-born children, suggesting variable interactions between risk factors to provide a clinicopathologic framework that is different from SDCP observed in preterm-born children.

2.
Clin Ter ; 175(1): 11-16, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38358471

RESUMO

Background: Infantile spastic bilateral cerebral palsy (CP) is the most common form of CP. Diplegia (with ambulatory ability) is mostly a chronic condition that impairs the ability to walk. Standard orthotic management includes hip-knee-ankle-foot orthosis (HKAFO) as a pri-mary conservative treatment option to contrast spasticity and stabilise gait through partial immobilisation of the body structure. Multilevel brace orthosis (MLB) (Registered Trademark) is a specific type of light HKAFO designed to improve functional alignment and dynamic gait stability without limb immobilisation. Aim of the case report is to verify the effects of the MLB on the diplegic gait cycle. Case: A child with a bilateral spastic gait due to CP diplegia is described. Gait analyses were performed to investigate the therapeutic effects of the MLB on walking. Discussion: The MLB improved the gross motor function measure of walking and gait temporal parameters (velocity), compared with barefoot condition. During the swing phase, we observed a reduction in plantar and knee flexion, and the orthosis increased the width and length of the step. Conclusion: Use of this specific type of HKAFO in children with diplegia improved gait symmetry and stability.


Assuntos
Paralisia Cerebral , Criança , Humanos , Paralisia Cerebral/complicações , Paralisia Cerebral/terapia , Aparelhos Ortopédicos , Marcha , Caminhada
3.
Children (Basel) ; 11(2)2024 Feb 06.
Artigo em Inglês | MEDLINE | ID: mdl-38397324

RESUMO

Lower limb orthoses are frequently used in children suffering from cerebral palsy (CP) alongside rehabilitation. The aim of this study was to analyze the effectiveness of ankle-foot orthosis (AFO) and knee-ankle-foot orthosis (KAFO) in walking, balance maintenance, spasticity, and quality of life improvement during rehabilitation in children affected by CP. The hypothesis was that the use of orthoses could improve the parameters compared to non-use. A systematic review was conducted in the main databases, including English language RCTs published about the use of AFO and KAFO in combination or not with rehabilitation methods in children affected by CP and studies mentioning walking, balance, muscle length, and quality of life as outcomes. From an initial number of 1484 results, a final number of 11 RCTs were included, comprising a total number of 442 participants and showing an overall high risk of bias in 10 studies and some concerns in one study. Six studies investigated the domain of walking, four studies investigated the domain of balance, and two studies investigated how KAFO and AFO orthoses could improve and prevent muscle contractures. Using highly heterogeneous study designs, different kinds of orthoses and different assessment tools were used. Further studies conducted with higher methodological quality are needed to establish whether AFO and KAFO are useful or not in combination with rehabilitation in improving the investigated domains.

4.
Neurosurg Focus Video ; 10(1): V17, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38283817

RESUMO

Selective dorsal rhizotomy (SDR) is an established neurosurgical technique for children with spastic diplegia secondary to cerebral palsy. Meticulous intraoperative testing of individual nerve roots with electromyography in tandem with the on-site neurorehabilitation team is recommended for good clinical outcomes. The standard approach requires the neurosurgeons to spend extended time under the traditional operating microscope. In this video, the authors describe the use of a 3D exoscope system for SDR. Overall, the 3D exoscope improves ergonomics and reduces musculoskeletal fatigue for the operating neurosurgeons. Furthermore, it provides excellent visualization of important structures, allowing safe and efficient completion of the procedure. The video can be found here: https://stream.cadmore.media/r10.3171/2023.10.FOCVID23105.

5.
Exp Brain Res ; 242(1): 275-293, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38015245

RESUMO

The purpose of this study was to examine kinematic and neuromuscular responses of the head and body to pelvis perturbations with different intensities and frequencies during sitting astride in children with CP. Sixteen children with spastic CP (mean age 7.4 ± 2.4 years old) were recruited in this study. A custom designed cable-driven robotic horse was used to apply controlled force perturbations to the pelvis during sitting astride. Each participant was tested in four force intensity conditions (i.e., 10%, 15%, 20%, and 25% of body weight (BW), frequency = 1 Hz), and six force frequency conditions (i.e., 0.5 Hz, 1 Hz, 1.5 Hz, 2 Hz, 2.5 Hz, and 3 Hz, intensity = 20% of BW). Each testing session lasted for one minute with a one-minute rest break inserted between two sessions. Kinematic data of the head, trunk, and legs were recorded using wearable sensors, and EMG signals of neck, trunk, and leg muscles were recorded. Children with CP showed direction-specific trunk and neck muscle activity in response to the pelvis perturbations during sitting astride. Greater EMG activities of trunk and neck muscles were observed for the greater intensities of force perturbations (P < .05). Participants also showed enhanced activation of antagonistic muscles rather than direction-specific trunk and neck muscle activities for the conditions of higher frequency perturbations (P < .05). Children with CP may modulate trunk and neck muscle activities in response to greater changes in intensity of pelvis perturbation during sitting astride. Perturbations with too high frequency may be less effective in inducing direction-specific trunk and neck muscle activities.


Assuntos
Paralisia Cerebral , Postura , Postura Sentada , Criança , Pré-Escolar , Humanos , Eletromiografia , Músculo Esquelético/fisiologia , Postura/fisiologia
6.
Physiother Can ; 75(4): 311-321, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-38037582

RESUMO

Purpose: The feasibility of ELEVATE with respect to adherence and preliminary efficacy was determined for children with spastic bilateral cerebral palsy (CP) from encephalopathy of prematurity. Methods: A case series was used. Participants were randomized to receive ELEVATE immediately or delay the intervention by 3 months before receiving the intervention. The outcomes included feasibility measures of (1) number of children recruited, (2) percentage of sessions attended, (3) stride counts during the intervention, and preliminary efficacy measures of change over the intervention period in (4) Gross Motor Function Measure-66 (GMFM-66), and (5) kinematics and weight-bearing during treadmill walking. Results: Four boys under 3 years of age participated. All participants tolerated 60-minute intervention sessions four times/week for 12 weeks, and attended 75%-94% (min-max) of the targeted sessions. The median step count per session ranged from 833 to 2484 steps (min-max) during the final week of training. Participants showed an increase in GMFM-66 score of 2.4-7.5 points (min-max) over the 3-month intervention phase, as compared to a decrease of 1.7 for one participant and an increase of 1.3 for another over the delay period. Three participants demonstrated small improvements in their gait with the intervention. Conclusions: Engaging young children with bilateral CP in intensive rehabilitation targeting gross motor function was feasible and demonstrated preliminary efficacy. The results have guided the design of a larger clinical trial to assess efficacy of early, active interventions for children with spastic bilateral CP.


Objectif: les chercheurs ont déterminé la faisabilité d'ELEVATE en matière d'adhésion et d'efficacité préliminaire chez des enfants ayant une paralysie cérébrale spastique bilatérale (PC) causée par une encéphalopathie de la prématurité. Méthodologie: série de cas. Les participants ont été choisis au hasard entre l'utilisation immédiate d'ELEVATE ou son report de trois mois. Les résultats incluaient des mesures de fiabilité, soit 1) le nombre d'enfants recrutés, 2) le pourcentage de séances suivies, 3) le compte des foulées pendant l'intervention et les mesures d'efficacité préliminaire pendant la période de l'intervention sur le plan de 4) la mesure de la fonction motrice globale 66 (GMFM-66) et de 5) la cinématique et la mise en charge pendant la marche sur tapis roulant. Résultats: quatre garçons de moins de trois ans ont participé. Tous ont toléré des séances d'intervention de 60 minutes quatre fois par semaine pendant 12 semaines et ont assisté à 75 % à 94 % (minimum-maximum) des séances ciblées. Le compte médian de foulées par séance se situait entre 833 et 2 484 foulées (minimum­maximum) lors de la dernière semaine d'entraînement. Les participants ont présenté une augmentation de 2,4 à 7,5 points (minimum-maximum) au score du GMFM-66 pendant les trois mois de la phase d'intervention, par rapport à une diminution de 1,7 point chez un participant et à une augmentation de 1,3 point chez un autre pendant la période de report. Trois participants ont démonté de légères améliorations de leur démarche grâce à l'intervention. Conclusions: il est faisable de faire participer des jeunes enfants ayant une PC bilatérale à une réadaptation intensive visant la fonction motrice globale, et cette intervention a une efficacité préliminaire démontrée. Les résultats ont entraîné la conception d'une étude clinique plus vaste pour évaluer l'efficacité d'interventions précoces actives chez les enfants ayant une PC bilatérale spastique.

7.
Neurol Sci ; 2023 Nov 16.
Artigo em Inglês | MEDLINE | ID: mdl-37968433

RESUMO

INTRODUCTION: Intraspinal cerebrospinal fluid (CSF) collection has been reported as a rare cause of lower motor neuron (LMN) disorder. We report a case of bibrachial diplegia associated with intraspinal CSF collection and perform a systematic literature review. PATIENT AND METHODS: A 52-year-old man developed a bibrachial amyotrophy over 6 years, confirmed by the presence of cervical subacute neurogenic changes at electromyography (EMG). Brain magnetic resonance imaging (MRI) revealed cerebral siderosis, while spine MRI showed a ventral longitudinal intraspinal fluid collection (VLISFC) from C2 to L2. No CSF leakage was localized at myelography; a conservative treatment was chosen. We searched for all published cases until 30th April 2023 and extrapolated data of 44 patients reported in 27 publications. RESULTS: We observed a male predominance, a younger disease onset compared to amyotrophic lateral sclerosis, and a quite long disease duration, highlighting a slow disease progression. LMN signs were more frequently bilateral, mostly involving C5-C6 myotomes. Around 61% of patients presented additional symptoms, but only three referred to a history of headache. Accordingly, CSF opening pressure was mostly normal. Spinal MRI revealed the presence of VLISFC and in some cases myelomalacia. EMG patterns displayed both chronic and subacute neurogenic change in the cervical region. The disease course mainly depended on the treatment choice, which was mostly represented by a surgical approach when a specific dural defect was detected by imaging. CONCLUSION: Bibrachial diplegia due to VLISFC can be a treatable cause of focal amyotrophy and presents some clinical and radiological "red flags" which cannot be missed by a clinical neurologist.

8.
J Neurosurg Case Lessons ; 6(20)2023 Nov 13.
Artigo em Inglês | MEDLINE | ID: mdl-37956422

RESUMO

BACKGROUND: Selective dorsal rhizotomy (SDR) can improve the spastic gait of carefully selected patients with cerebral palsy. Spinal arachnoid cysts are a rare pathology that can also cause spastic gait secondary to spinal cord compression. OBSERVATIONS: The authors present an interesting case of a child with cerebral palsy and spastic diplegia. He was evaluated by a multidisciplinary team and determined to be a good candidate for SDR. Preoperative evaluation included magnetic resonance imaging (MRI) of the spine, which identified an arachnoid cyst causing spinal cord compression. The cyst was surgically fenestrated, which provided some gait improvement. After recovering from cyst fenestration surgery, the patient underwent SDR providing further gait improvement. LESSONS: SDR can be beneficial for some patients with spastic diplegia. Most guidelines do not include spinal MRI in the preoperative evaluation for SDR. However, spinal MRI can be beneficial for surgical planning by localizing the level of the conus. It may also identify additional spinal pathology that is contributing to the patient's spasticity. In rare cases, such as this one, patients may benefit from staged surgery to address structural causes of spastic gait prior to proceeding with SDR.

9.
Indian J Orthop ; 57(12): 1913-1926, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38009172

RESUMO

Background and Objective: Crouch gait is the most common pathological gait pattern in cerebral palsy and is commonly seen in patients with spastic diplegia. It is characterized by excessive knee flexion throughout the stance phase of gait cycle. The aim of this review is to discuss the current literature about CG for a more comprehensive understanding. Methods: A literature review about various aspects of crouch gait in cerebral palsy was undertaken. This included its etiology and pathophysiology, biomechanics in crouch gait, natural history of untreated crouch gait, clinical and radiological evaluation and different modalities of available treatment. Results: The etiology is multifactorial and the pathophysiology is poorly understood. This makes its management challenging, thereby leading to a variety of available treatment modalities. Inadvertent lengthening of muscle-tendon units is an important cause and can be avoided. A meticulous clinical and radiological evaluation of patients, supplemented by observational and instrumented gait analysis is mandatory in choosing correct treatment modality and improving the treatment outcome. Younger children can be managed satisfactorily by various non-operative methods and spasticity reduction measures. However, crouch gait in cerebral palsy has a progressive natural history and surgical interventions are needed frequently. The current literature supports combination of various soft tissue and bony procedures as a part of single event multilevel surgery. Growth modulation in the form of anterior distal femur hemiepiphysiodesis for correction of fixed flexion deformity of knee has shown encouraging results and can be an alternative in younger children with sufficient growth remaining. Conclusions: In spite of extensive research in this field, the current understanding about crouch gait has many knowledge gaps. Further studies about the etiopathogenesis and biomechanics of crouch using instrumented gait analysis are suggested. Similarly, future research should focus on the long term outcomes of different treatment modalities through comparative trials.

10.
Cureus ; 15(8): e43876, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37746405

RESUMO

Background Spastic diplegic cerebral palsy is the type that is most frequently seen in clinical settings. Spastic diplegic children have trouble maintaining their balance, gait, and gross motor function. This study investigated the effects of the Neurodevelopmental Technique (NDT) and Sensory Integration Technique (SIT) on balance, gross motor function, and gait characteristics in children with spastic diplegia. Method The study's participants were 8 to 12 years old, with spastic diplegia, categorized into stages I to III of the Gross Motor Function Classification System. While individuals in group B underwent sensory integration therapy, group A's subjects received NDT for 45 minutes. Both groups received traditional physiotherapy for 15 minutes. The protocol was given for five days a week, continuously for four weeks. All 40 subjects underwent pre- and post-treatment assessments using the Gross Motor Function Measure-88 (GMFM-88), Paediatric Balance Scale, Gait Parameters, and Gross Motor Function Classification System. Results The trial involved 40 children, divided into two groups of 20 each. Statistical analysis demonstrated a substantial improvement in group B post-intervention (P>0.0001). The study's findings were drawn using the Chi-Square test, paired and unpaired t-tests, and SPSS Statistics for Windows, version 27.0 (IBM Corp., Armonk, USA).A p<0.05 and the GraphPad Prism version 7.0 (GraphPad Software, Boston, USA) were used. A total of 40 children completed the entire duration of treatment for a month. 20 subjects participated in group A (age range 8-12 years; mean age 10.3 years) and 20 subjects in group B (age range 8-12 years; mean age 10.25 years). The GMFM-88, which assesses motor function, reveals that the between-group comparison indicates a substantial difference of 7.95 (6.04-9.86) in favor of Group B, with a p-value of 0.0001, signifying statistical significance. Similarly, the Pediatric Balance Scale (PBS) outcomes significantly enhanced in both groups post-intervention. The comparison between groups yields a difference of 1.85 (1.11-2.59) in favor of Group B, with a p-value of 0.0001. Conclusion The study concluded that SIT has a positive impact on gait metrics, balance, and gross motor function in children with spastic diplegia.

11.
J Appl Biomech ; 39(5): 334-346, 2023 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-37532263

RESUMO

Spasticity is a common impairment within pediatric neuromusculoskeletal disorders. How spasticity contributes to gait deviations is important for treatment selection. Our aim was to evaluate the pathophysiological mechanisms underlying gait deviations seen in children with spasticity, using predictive simulations. A cluster analysis was performed to extract distinct gait patterns from experimental gait data of 17 children with spasticity to be used as comparative validation data. A forward dynamic simulation framework was employed to predict gait with either velocity- or force-based hyperreflexia. This framework entailed a generic musculoskeletal model controlled by reflexes and supraspinal drive, governed by a multiobjective cost function. Hyperreflexia values were optimized to enable the simulated gait to best match experimental gait patterns. Three experimental gait patterns were extracted: (1) increased knee flexion, (2) increased ankle plantar flexion, and (3) increased knee flexion and ankle plantar flexion when compared with typical gait. Overall, velocity-based hyperreflexia outperformed force-based hyperreflexia. The first gait pattern could mostly be explained by rectus femoris and hamstrings velocity-based hyperreflexia, the second by gastrocnemius velocity-based hyperreflexia, and the third by gastrocnemius, soleus, and hamstrings velocity-based hyperreflexia. This study shows how velocity-based hyperreflexia from specific muscles contributes to different spastic gait patterns, which may help in providing targeted treatment.

12.
Cureus ; 15(7): e41549, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37554587

RESUMO

A 52-year-old female presented to our hospital with an acute history of isolated bilateral arm weakness. An MRI of the cervical spine confirmed an acute anterior spinal artery infarction. Further investigations to determine a specific etiology were unremarkable, leading to a diagnosis of idiopathic anterior spinal artery infarction consistent with Man-in-the-Barrel syndrome.

13.
NeuroRehabilitation ; 53(1): 131-141, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37424482

RESUMO

BACKGROUND: Lower-extremity spasticity and impaired gait control after central nervous system injury are challenging to improve, because spasticity limits residual motor control while providing mechanical support. Highly selective partial neurectomies (HSPNs) can substantially reduce spasticity but may have greater risks in patients with complex lower-extremity spastic gait. OBJECTIVE: To examine the potential of ultrasound- and stimulation-guided highly selective motor nerve blocks (HSMNBs) to assess the potential impact of reduced spasticity on gait. METHODS: In this retrospective series, six patients underwent HSMNBs with movement assessment before and after the block. Range of motion, strength, position angles, surface electromyography, lower limb kinematics, and patient satisfaction were assessed. RESULTS: Pre- and post-HSMNB movement analysis yielded dichotomous gait kinematics, which facilitated surgical decisions. Of the 59 metrics evaluated, 82% demonstrated a positive improvement post-block (62% improved more than one standard deviation (SD) of typically developing means, 49% improved > 2 SD) and 16% demonstrated a negative change (2% worsened > 1 SD). CONCLUSION: HSMNB provided clear efficacy in changing clinical, surface electromyography, and gait parameters. Movement analysis provided clear and robust objective and patient-centered evidence for surgical guidance. This protocol may provide utility in evaluation of patients being considered for HSPNs for complex spastic gait patterns.


Assuntos
Denervação , Análise da Marcha , Espasticidade Muscular , Estudos Retrospectivos , Marcha , Eletromiografia , Espasticidade Muscular/cirurgia , Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Idoso
14.
Cureus ; 15(6): e40746, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37485189

RESUMO

Moebius syndrome (MS) is rare. It is defined by congenital bilateral paralysis of the sixth and seventh cranial nerves, resulting in an absence of mimicry and strabismus responsible for major relational disorders. Other cranial nerves can also be affected (third, fourth, fifth, ninth, tenth, and twelfth cranial pairs). In the majority of cases, MS is sporadic, causing problems with sucking, swallowing, breathing, and phonation. Associated malformations have also been reported. The disease is not progressive, and management is mainly symptomatic. We report a three-year-old girl who presented with facial asymmetry and in whom the MS was confirmed through magnetic resonance imaging (MRI). A multidisciplinary approach was conducted on our patient and is currently being followed up in the neuropediatrics department, and an ophthalmological examination is scheduled. Additionally, she had medical consultations with a plastic surgeon for smile rehabilitation. On the other hand, psychological support was maintained.

15.
Children (Basel) ; 10(5)2023 May 06.
Artigo em Inglês | MEDLINE | ID: mdl-37238390

RESUMO

Spasticity is a common issue among children, especially those with bilateral spastic cerebral palsy (CP). Selective dorsal rhizotomy (SDR) is a surgical procedure that is often used to decrease lower limb rigidity, alongside other treatment options such as intrathecal medication, peripheral nerve surgery, and deep brain stimulation (DBS). The objective of these therapies is to improve the standard of living for young individuals. This article intends to explain the motor deficits observed in spastic diplegia and a rehabilitation program using physical therapy after SDR. The information can help with counseling parents about the prognosis and developing a clinical treatment plan. The article presents a case study of a 12-year-old girl who recently underwent L3, L4, and L5 nerve root rhizotomy in the physical therapy department. It highlights the importance of long-term physical therapy follow-up and orthotic usage in the management of spastic diplegia.

16.
Int J Dev Neurosci ; 83(4): 368-373, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37186309

RESUMO

BACKGROUND: Warburg Micro (WARBM) syndrome is a rare heterogeneous recessive genetic disorder characterized by ocular, neurological, and endocrine problems. To date, disease-causing variants in four genes have been identified to cause this syndrome; of these, RAB3GAP1 variants are the most frequent. Very little is known about WARBM syndrome in rural populations. OBJECTIVES: This study aims to investigate the genetics underpinnings of WARBM syndrome in a Pashtun family with two patients from Pakistan. The patients presented with spastic diplegia, severe intellectual disability, microphthalmia, microcornea, congenital cataracts, optic atrophy, and hypogonadism. METHODS: Magnetic resonance imaging (MRI) analysis revealed pronounced cerebral atrophy including corpus callosum hypoplasia and polymicrogyria. Exome sequencing and subsequent filtering identified a novel homozygous missense variant NM_001172435: c.2891A>G, p.Gln964Arg in the RAB3GAP1 gene. The variant was validated, and its segregation confirmed, by Sanger sequencing. RESULTS: Multiple prediction tools assess this variant to be damaging, and structural analysis of the protein shows that the mutant amino acid residue affects polar contact with the neighboring atoms. It is extremely rare and is absent in all the public databases. Taken together, these observations suggest that this variant underlies Micro syndrome in our family and is extremely important for management and family planning. CONCLUSIONS: Identification of this extremely rare variant extends the mutations spectrum of Micro syndrome. Screening more families, especially in underrepresented populations, will help unveil the mutation spectrum underlying this syndrome.


Assuntos
Catarata , Hipogonadismo , Deficiência Intelectual , Atrofia Óptica , Humanos , Deficiência Intelectual/diagnóstico por imagem , Deficiência Intelectual/genética , Paquistão , Sequenciamento do Exoma , Proteínas rab3 de Ligação ao GTP/genética , Proteínas rab3 de Ligação ao GTP/metabolismo , Atrofia Óptica/diagnóstico por imagem , Atrofia Óptica/genética , Hipogonadismo/diagnóstico por imagem , Hipogonadismo/genética , Catarata/diagnóstico por imagem , Catarata/genética , Mutação/genética
17.
Cureus ; 15(2): e35159, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36950004

RESUMO

Sjögren-Larsson syndrome (SLS) is a rare, inherited disorder passed down through families in an autosomal recessive pattern. Its main characteristics are spastic diplegic paralysis, congenital ichthyotic hyperkeratosis, and mild-to-moderate mental retardation. Lack of activity of microsomal fatty aldehyde dehydrogenase (FALDH) or its complete absence is the primary cause of this syndrome, leading to the build-up of fatty aldehydes and fatty alcohols in the body, particularly in the skin. In order to provide the best care for patients, educating them about the management of dry skin and offering genetic counseling are essential. We hereby present a case of an eight-year-old patient with spastic diplegia, congenital ichthyosis, and intellectual disability diagnosed with SLS.

18.
Cureus ; 15(2): e35105, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36945285

RESUMO

Introduction Most centers in low- to mid-income countries (LMICs) lack facilities for a comprehensive instrumented gait analysis (IGA) which is often considered the preferred method for assessment of the functional results of surgery in children with spastic diplegia. We aimed to study if there were any changes in the Gross Motor Function Classification System (GMFCS) levels and Functional Mobility Scale (FMS) scores after surgery and whether they can be used as an indirect indicator of change in the functional status of a child. Methods This prospective study was conducted at the Pediatric Orthopedic unit of a teaching hospital on spastic diplegic children requiring surgical intervention. GMFCS levels and FMS scores were recorded before the surgery and at each follow-up visit, with the latest record being two years post-surgery. The change in the scores was indicated as an improvement, deterioration, or no change from the baseline and compared to the score of the preceding visit. In addition, it was examined whether the age at surgery had any effect on the temporal change in the scores. Results A total of 25 children were included for analysis after excluding those who failed to fulfill the predefined inclusion and exclusion criteria. Both the GMFCS levels and FMS scores improved from the third month to one-year post-surgery, after which a few patients had a worsening of their scores at the two years follow-up visit. The age at which surgery was performed had no significant effect on the pattern of change in the scores. Most children sought consultations with the physical therapy department only when they visited the surgical team for follow-up. Conclusion This study shows that surgical interventions do improve the functional outcomes in children with spastic CP when assessed using FMS scores while maintaining an undeteriorated GMFCS level in most children. While a peak improvement can be expected one year after surgery in most patients, possible of worsening from baseline scores do exist, and the parents must be informed of the same. Any decision for surgery must involve the parents, and the usefulness of postoperative physical therapy must be impressed upon them before the surgery and during each follow-up visit too.

19.
Ann Med Surg (Lond) ; 85(3): 435-438, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36923782

RESUMO

'Man-in-the-barrel syndrome' (MIBS) is a neurological phenotype with brachial diplegia, normal sensation, and preserved motor function of the lower limb. Severe hypotension leading to watershed infarctions leading to this phenotype has been reported. The pathogenesis of MIBS is believed to be cerebral hypoperfusion leading to border zone infarctions between the territories of the anterior and middle cerebral arteries. Case Report and Discussion: A 49-year-old chronic alcoholic hypertensive Indian male was evaluated for barrel syndrome after a cardiac arrest. MRI confirmed hyperintensities between the territories of the anterior and middle cerebral arteries bilaterally. Conclusion: Person in barrel syndrome is a rare neurological syndrome. MIB is common after cerebral hypoperfusion and carries a poor prognosis. Identification of the underlying cause is important because the management and prognosis vary based on the etiology.

20.
Gait Posture ; 99: 9-13, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-36283302

RESUMO

BACKGROUND: Selective motor control (SMC) is a fundamental component of typical human motion. As a result of brain damage, impaired SMC often leads to difficulties with coordination, balance, gait efficiency and symmetry. RESEARCH QUESTION: What is the association between impaired SMC and lower limb motor ability, functional balance and gait performance in children with bilateral spastic cerebral palsy (CP)? METHODS: Thirty-six children (aged 5-16 years) with spastic bilateral CP in Gross Motor Function Classification System (GMFCS) level I to II were included in this study. SMC was assessed using Selective Control Assessment of the Lower Extremity (SCALE). Gross motor function was assessed using Gross Motor Function Measure-88 items D and E dimension (GMFM-88 D&E). Functional balance was assessed using Pediatric Balance Scale (PBS) and Timed Up and Go Test (TUG). Gait quality was assessed using Edinburg Visual Gait Score (EVGS) and 10-Meter Walk Test (10MWT). Spearman's rank correlation analyses were used to determine the association between SMC and other factors. RESULTS: Correlation analyses showed that SCALE was strongly positively correlated with GMFM-88 (D&E) (rs=0.756, p < 0.001), PBS (rs=0.769, p < 0.001), and height-normalized fast walking speed (rs=0.632, p < 0.001), and strongly negatively correlated with TUG (rs=-0.766, p < 0.001) and EVGS (rs=-0.893, p < 0.001). SIGNIFICANCE: Lower extremity SMC deficits are associated with poor gross motor function and balance control, more severe overall gait deviations and decreased fast walking speed in children with bilateral spastic CP. Physical therapy should include interventions that promote selective motor control in order to improve overall functional ability.


Assuntos
Paralisia Cerebral , Criança , Humanos , Equilíbrio Postural , Espasticidade Muscular , Estudos de Tempo e Movimento , Marcha
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