Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 2.608
Filtrar
1.
JAMA Netw Open ; 7(5): e2413550, 2024 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-38709738

RESUMO

Importance: Studies suggest that early neurodevelopmental assessments are beneficial for identifying cerebral palsy, yet their effectiveness in practical scenarios and their ability to detect cognitive impairment are limited. Objective: To assess the effectiveness of early neurodevelopmental assessments in identifying cerebral palsy and cognitive and other neurodevelopmental impairments, including their severity, within a multidisciplinary clinic. Design, Setting, and Participants: This diagnostic study was conducted at Monash Children's Hospital, Melbourne, Australia. Participants were extremely preterm infants born at less than 28 weeks' gestation or extremely low birth weight infants less than 1000 g and term encephalopathic infants who received therapeutic hypothermia, attending the early neurodevelopmental clinic between January 2019 and July 2021. Data were analyzed from December 2023 to January 2024. Exposures: Early cerebral palsy or high risk of cerebral palsy, the absence of fidgety movements, and Hammersmith Infant Neurological Examination (HINE) scores at corrected age (CA) 3 to 4 months. Early cerebral palsy or high risk of cerebral palsy diagnosis was based on absent fidgety movements, a low HINE score (<57), and medical neurological examination. Main Outcome and Measures: The outcomes of interest were cerebral palsy, cognitive and neurodevelopmental impairments and their severity, diagnosed at 24 to 36 months' CA. Results: A total of 116 infants (median [IQR] gestational age, 27 [25-29] weeks; 65 [56%] male) were included. Diagnosis of early cerebral palsy or high risk of cerebral palsy demonstrated a sensitivity of 92% (95% CI, 63%-99%) and specificity of 84% (95% CI, 76%-90%) for predicting cerebral palsy and 100% (95% CI, 59%-100%) sensitivity and 80% (95% CI, 72%-87%) specificity for predicting moderate to severe cerebral palsy. Additionally, the accuracy of diagnosis of early cerebral palsy or high risk of cerebral palsy was 85% (95% CI, 77%-91%) for predicting cerebral palsy and 81% (95% CI, 73%-88%) for predicting moderate to severe cerebral palsy. Similarly, the absence of fidgety movements had an 81% (95% CI, 73%-88%) accuracy in predicting cerebral palsy, and HINE scores exhibited good discriminatory power with an area under the curve of 0.88 (95% CI, 0.79-0.97) for cerebral palsy prediction. However, for cognitive impairment, the predictive accuracy was 44% (95% CI, 35%-54%) for an early cerebral palsy or high risk of cerebral palsy diagnosis and 45% (95% CI, 36%-55%) for the absence of fidgety movements. Similarly, HINE scores showed poor discriminatory power for predicting cognitive impairment, with an area under the curve of 0.62 (95% CI, 0.51-0.73). Conclusions and Relevance: In this diagnostic study of infants at high risk for cerebral palsy or other cognitive or neurodevelopmental impairment, early neurodevelopmental assessments at 3 to 4 months' CA reliably predicted cerebral palsy and its severity at 24 to 36 months' CA, signifying its crucial role in facilitating early intervention. However, for cognitive impairment, longer-term assessments are necessary for accurate identification.


Assuntos
Paralisia Cerebral , Humanos , Paralisia Cerebral/epidemiologia , Paralisia Cerebral/diagnóstico , Feminino , Masculino , Recém-Nascido , Lactente , Exame Neurológico/métodos , Lactente Extremamente Prematuro , Transtornos do Neurodesenvolvimento/diagnóstico , Transtornos do Neurodesenvolvimento/epidemiologia , Transtornos do Neurodesenvolvimento/etiologia , Pré-Escolar , Austrália/epidemiologia
2.
Andes Pediatr ; 95(1): 61-68, 2024 Feb.
Artigo em Espanhol | MEDLINE | ID: mdl-38587345

RESUMO

The COVID-19 pandemic affected the health of children and adolescents (CA). Isolation-related conditions could have impacted not only the functionality of children and adolescents with cerebral palsy (CP) but also their social and emotional well-being, affecting their health-related quality of life (HRQoL). OBJECTIVE: To analyze perceptions of impairment during the pandemic and differences in HRQoL dimensions compared with a previous registry in Argentinean children and adolescents diagnosed with CP from the perspective of their caregivers. SUBJECTS AND METHOD: Cross-sectional observational study at two time points (2019 and 2021) where 98 caregivers participated. We used the KIDSCREEN-27 and CP-QOL questionnaires for the assessment of HRQoL and an open-ended question regarding the impact of the pandemic on the health of children and adolescents, including in 2021. We compared mean scores of the dimensions of the questionnaires in both stages (significant differences: Cohen's d≥0.3). Responses to the open-ended question were analyzed via "open" and "axial" coding. RESULTS: The scores of the dimensions Participation, Emotional well-being, Social well-being, and School environment (CP-QOL) and Psychological well-being, Friends, School environment, and General HRQoL index (KIDSCREEN-27) were lower during the pandemic (2021) compared with 2019 (d>0.3). Regarding perceived affectation during the pandemic, we identified three main recurrences: "impairment due to interruption of therapies and treatments", "deterioration of peer bonding", and "increased and positive appraisal of self-care". CONCLUSIONS: The pandemic affected the psychosocial dimensions of health. Qualitative data highlight the positive assessment of self-care.


Assuntos
Paralisia Cerebral , Qualidade de Vida , Criança , Humanos , Adolescente , Qualidade de Vida/psicologia , Paralisia Cerebral/terapia , Paralisia Cerebral/diagnóstico , Paralisia Cerebral/psicologia , Pandemias , Cuidadores/psicologia , Estudos Transversais
3.
Clin Neurophysiol ; 162: 68-76, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38583406

RESUMO

OBJECTIVE: To evaluate the utility of a fully automated deep learning -based quantitative measure of EEG background, Brain State of the Newborn (BSN), for early prediction of clinical outcome at four years of age. METHODS: The EEG monitoring data from eighty consecutive newborns was analyzed using the automatically computed BSN trend. BSN levels during the first days of life (a of total 5427 hours) were compared to four clinical outcome categories: favorable, cerebral palsy (CP), CP with epilepsy, and death. The time dependent changes in BSN-based prediction for different outcomes were assessed by positive/negative predictive value (PPV/NPV) and by estimating the area under the receiver operating characteristic curve (AUC). RESULTS: The BSN values were closely aligned with four visually determined EEG categories (p < 0·001), as well as with respect to clinical milestones of EEG recovery in perinatal Hypoxic Ischemic Encephalopathy (HIE; p < 0·003). Favorable outcome was related to a rapid recovery of the BSN trend, while worse outcomes related to a slow BSN recovery. Outcome predictions with BSN were accurate from 6 to 48 hours of age: For the favorable outcome, the AUC ranged from 95 to 99% (peak at 12 hours), and for the poor outcome the AUC ranged from 96 to 99% (peak at 12 hours). The optimal BSN levels for each PPV/NPV estimate changed substantially during the first 48 hours, ranging from 20 to 80. CONCLUSIONS: We show that the BSN provides an automated, objective, and continuous measure of brain activity in newborns. SIGNIFICANCE: The BSN trend discloses the dynamic nature that exists in both cerebral recovery and outcome prediction, supports individualized patient care, rapid stratification and early prognosis.


Assuntos
Asfixia Neonatal , Encéfalo , Eletroencefalografia , Humanos , Recém-Nascido , Eletroencefalografia/métodos , Eletroencefalografia/tendências , Asfixia Neonatal/fisiopatologia , Asfixia Neonatal/diagnóstico , Masculino , Feminino , Encéfalo/fisiopatologia , Hipóxia-Isquemia Encefálica/fisiopatologia , Hipóxia-Isquemia Encefálica/diagnóstico , Paralisia Cerebral/fisiopatologia , Paralisia Cerebral/diagnóstico , Valor Preditivo dos Testes , Pré-Escolar , Aprendizado Profundo , Prognóstico
4.
Pediatr Neurol ; 155: 167-170, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38663153

RESUMO

BACKGROUND: The majority of the estimated 50 to 100 million children living with disability worldwide reside in low- or middle-income countries. As families migrate to avoid humanitarian crises, children with developmental disability and delay warrant particular attention in refugee and international health settings. During transitions, medical documentation may be lost and diagnoses may not be fully understood, contributing to the challenges of determining etiologies of motor impairment. METHODS: Of the first 100 refugee children who were referred to the Child Development Clinic, we identified a subset of children referred for motor impairment or cerebral palsy. Data on their presentation, diagnoses following evaluation, and therapeutic services required was collected by retrospective chart review. RESULTS: Twenty children were referred for motor impairment and cerebral palsy. Average age was 8.9 years; 45% were female. Eight children were eventually diagnosed with cerebral palsy, and 12 had alternate or inconclusive diagnoses. Microcephaly was more common in children diagnosed with cerebral palsy. CONCLUSIONS: The frequent differences between referral and final diagnoses in refugee children referred for cerebral palsy highlights the need for pediatricians' careful examination and diagnostic reasoning upon initial presentation.


Assuntos
Paralisia Cerebral , Encaminhamento e Consulta , Humanos , Paralisia Cerebral/diagnóstico , Feminino , Masculino , Criança , Estudos Retrospectivos , Pré-Escolar , Refugiados , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/etiologia , Adolescente
5.
Early Hum Dev ; 192: 105992, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38574696

RESUMO

BACKGROUND: Many infants who survive hypoxic-ischemic encephalopathy (HIE) face long-term complications like epilepsy, cerebral palsy, and developmental delays. Detecting and forecasting developmental issues in high-risk infants is critical. AIM: This study aims to assess the effectiveness of standardized General Movements Assessment (GMA) and Hammersmith Infant Neurological Examinations (HINE) in identifying nervous system damage and predicting neurological outcomes in infants with HIE. DESIGN: Prospective. SUBJECTS AND MEASURES: We examined full-term newborns with perinatal asphyxia, classifying them as Grade 2 HIE according to Sarnat and Sarnat. The study included 31 infants, with 14 (45.2 %) receiving therapeutic hypothermia (Group 1) and 17 (54.8 %) not (Group 2). We evaluated general movements during writhing and fidgety phases and conducted neurological assessments using the HINE. RESULTS: All infants exhibited cramped-synchronized - like movements, leading to cerebral palsy (CP) diagnosis. Three children in Group 1 and four in Group 2 lacked fidgety movements. During active movements, HINE and GMA showed high sensitivity and specificity, reaching 96 % and 100 % for all children. The ROC curve's area under the curve (AUC) was 0.978. CONCLUSION: Our study affirms HINE and GMA as effective tools for predicting CP in HIE-affected children. GMA exhibits higher sensitivity and specificity during fidgety movements. However, study limitations include a small sample size and data from a single medical institution, necessitating further research.


Assuntos
Paralisia Cerebral , Hipóxia-Isquemia Encefálica , Humanos , Hipóxia-Isquemia Encefálica/terapia , Hipóxia-Isquemia Encefálica/diagnóstico , Masculino , Feminino , Recém-Nascido , Paralisia Cerebral/diagnóstico , Paralisia Cerebral/fisiopatologia , Paralisia Cerebral/terapia , Exame Neurológico/métodos , Exame Neurológico/normas , Movimento , Asfixia Neonatal/terapia , Asfixia Neonatal/diagnóstico , Lactente , Estudos Prospectivos
7.
BMJ Open ; 14(3): e080063, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-38431302

RESUMO

OBJECTIVES: To evaluate the feasibility of using the NeuroMotion smartphone application for remote General Movements Assessment for screening infants for cerebral palsy in Kathmandu, Nepal. METHOD: Thirty-one term-born infants at risk of cerebral palsy due to birth asphyxia or neonatal seizures were recruited for the follow-up at Paropakar Maternity and Women's Hospital, 1 October 2021 to 7 January 2022. Parents filmed their children at home using the application at 3 months' age and the videos were assessed for technical quality using a standardised form and for fidgety movements by Prechtl's General Movements Assessment. The usability of the application was evaluated through a parental survey. RESULTS: Twenty families sent in altogether 46 videos out of which 35 had approved technical quality. Sixteen children had at least one video with approved technical quality. Three infants lacked fidgety movements. The level of agreement between assessors was acceptable (Krippendorf alpha 0.781). Parental answers to the usability survey were in general positive. INTERPRETATION: Engaging parents in screening of cerebral palsy with the help of a smartphone-aided remote General Movements Assessment is possible in the urban area of a South Asian lower middle-income country.


Assuntos
Paralisia Cerebral , Recém-Nascido , Lactente , Criança , Humanos , Feminino , Gravidez , Paralisia Cerebral/diagnóstico , Estudos de Viabilidade , Smartphone , Nepal , Movimento
8.
Rev Paul Pediatr ; 42: e2023105, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38537034

RESUMO

OBJECTIVE: The current study aimed to translate the Hammersmith Infant Neurological Examination (HINE) into Brazilian Portuguese and analyze the reliability of the translated version for a population of Brazilian infants. METHODS: This was a methodological study, approved by the Ethics Committee, carried out between June 2020 and May 2021. HINE is a standardized clinical neurological examination used for the early detection of cerebral palsy. The quantitative section, "neurological examination", contains 26 items scored from 0 to 3 points, divided into five categories: cranial nerve function, posture, movements, muscle tone and reflexes, and reactions. The HINE translation followed four steps: translation, synthesis, back-translation, and evaluation by an expert committee. To verify the reliability of the HINE-Br (Portuguese-Brazil version) two independent examiners evaluated 43 infants, between 3 and 22 months of age. Internal consistency was verified by Cronbach's Alpha coefficient and interrater reliability by the intraclass correlation coefficient (ICC). RESULTS: The translated version was similar to the original version and a few semantic and idiomatic adjustments were necessary. Appropriate internal consistency (Alpha=0.91) was found for the 26 items of the HINE-Br, as well as strong interrater reliability for the total score (ICC2.1=0.95), and also for the five categories (ICC2.1=0.83-0.95). CONCLUSIONS: The HINE-Br presents adequate rates of internal consistency and interrater reliability, and can be used for the evaluation of children at risk for cerebral palsy, between 3 and 24 months of age, by pediatricians and pediatric physical therapists.


Assuntos
Paralisia Cerebral , Lactente , Humanos , Criança , Brasil/epidemiologia , Paralisia Cerebral/diagnóstico , Reprodutibilidade dos Testes , Portugal , Exame Neurológico , Traduções , Inquéritos e Questionários
9.
Artigo em Inglês | MEDLINE | ID: mdl-38530946

RESUMO

INTRODUCTION: To determine whether differences exist in the measured range of motion (ROM) by the goniometer, equinometer, and 3-dimensional (3D) gait analysis in different settings (under general anesthesia (GA) or in the clinic) among patients with cerebral palsy. METHODS: A prospective comparative cohort study was conducted at our orthopaedics center, where 15 patients with diplegic cerebral palsy (30 limbs) were evaluated, all of whom had Gross Motor Function Classification System (GMFCS) level I and II. ROM was measured by (1) goniometer under GA (benchmark), (2) goniometer analysis during clinical examination, (3) equinometer under GA, (4) equinometer in the clinic, and (5) 3D gait analysis. ROM was measured during both knee flexion and extension. Subgroup analysis based on the GMFCS level was performed. RESULTS: Nine patients were male with GMFCS level I and a mean age of 14.3 (SD=7.2) years. Statistically significant differences were noted between all studied measurement techniques in terms of ROM, dorsiflexion, and plantarflexion during both knee flexion and extension. The GMFCS level was an effect modifier of ROM measurements. DISCUSSION: The ROM parameters during both knee flexion and extension differed from one measurement device/technique to another. The GMFCS level played a notable effect-modifying role on the ROM parameters.


Assuntos
Paralisia Cerebral , Articulação do Joelho , Humanos , Masculino , Adolescente , Feminino , Paralisia Cerebral/diagnóstico , Marcha , Estudos de Coortes , Espasticidade Muscular , Estudos Prospectivos , Estudos Retrospectivos
10.
BMC Musculoskelet Disord ; 25(1): 222, 2024 Mar 19.
Artigo em Inglês | MEDLINE | ID: mdl-38504256

RESUMO

BACKGROUND: The aim was to analyse whether scoliosis or windswept hip deformity (WSH) occurs first for children with cerebral palsy (CP). METHODS: This longitudinal cohort study using data from 1994 - 2020 (26 years) involved 41,600 measurements of 4148 children (2419 [58.3%] boys) with CP born 1990 - 2018 and registered into the Swedish CP follow-up program. Children were followed from a mean age of 2.8 [SD 1.4] years, until they developed either scoliosis or WSH or were removed at surgery. RESULTS: WSH developed first in 16.6% of the children (mean age 8.1 [SD 5.0] years), and scoliosis in 8.1% (mean age 8.1 [SD 4.9] years). The incidence of WSH was higher than scoliosis across all levels I-V of the Gross Motor Function Classification System (GMFCS), both sexes, and for those with dyskinetic (20.0%) or spastic (17.0%) CP. The incidence of scoliosis was highest (19.8%) and developed earliest in children with GMFCS level V (mean age 5.5 [SD 3.5] years), and in children with dyskinetic (17.9%) CP (mean age 7.0 [SD 4.7] years). CONCLUSIONS: WSH presents earlier than scoliosis in most children with CP. Children with higher GMFCS level or dyskinetic CP are more likely to develop these deformities at a younger age.


Assuntos
Paralisia Cerebral , Escoliose , Masculino , Criança , Feminino , Humanos , Pré-Escolar , Estudos Longitudinais , Escoliose/epidemiologia , Escoliose/cirurgia , Escoliose/etiologia , Paralisia Cerebral/diagnóstico , Paralisia Cerebral/epidemiologia , Paralisia Cerebral/complicações , Incidência , Estudos de Coortes
11.
J Pediatr ; 268: 113949, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38336205

RESUMO

OBJECTIVE: To describe the implementation of the international guidelines for the early diagnosis of cerebral palsy (CP) and engagement in the screening process in an Australian cohort of infants with neonatal risk factors for CP. STUDY DESIGN: Prospective cohort study of infants with neonatal risk factors recruited at <6 months corrected age from 11 sites in the states of Victoria, New South Wales, and Queensland, Australia. First, we implemented a multimodal knowledge translation strategy including barrier identification, technology integration, and special interest groups. Screening was implemented as follows: infants with clinical indications for neuroimaging underwent magnetic resonance imaging and/or cranial ultrasound. The Prechtl General Movements Assessment (GMA) was recorded clinically or using an app (Baby Moves). Infants with absent or abnormal fidgety movements on GMA videos were offered further assessment using the Hammersmith Infant Neurological Examination (HINE). Infants with atypical findings on 2/3 assessments met criteria for high risk of CP. RESULTS: Of the 597 infants (56% male) recruited, 95% (n = 565) received neuroimaging, 90% (n = 537) had scorable GMA videos (2% unscorable/8% no video), and 25% (n = 149) HINE. Overall, 19% of the cohort (n = 114/597) met criteria for high risk of CP, 57% (340/597) had at least 2 normal assessments (of neuroimaging, GMA or HINE), and 24% (n = 143/597) had insufficient assessments. CONCLUSIONS: Early CP screening was implemented across participating sites using a multimodal knowledge translation strategy. Although the COVID-19 pandemic affected recruitment rates, there was high engagement in the screening process. Reasons for engagement in early screening from parents and clinicians warrant further contextualization and investigation.


Assuntos
Paralisia Cerebral , Pesquisa Translacional Biomédica , Humanos , Paralisia Cerebral/diagnóstico , Masculino , Feminino , Estudos Prospectivos , Recém-Nascido , Lactente , Austrália , Diagnóstico Precoce , Fatores de Risco , Imageamento por Ressonância Magnética , Triagem Neonatal/métodos , Neuroimagem , Estudos de Coortes , Exame Neurológico/métodos , COVID-19/epidemiologia , COVID-19/diagnóstico
12.
BMJ Paediatr Open ; 8(1)2024 02 20.
Artigo em Inglês | MEDLINE | ID: mdl-38378669

RESUMO

OBJECTIVE: Gastro-oesophageal reflux disease (GORD) is a common condition affecting children, characterised by the passage of gastric contents into the oesophagus causing pain, vomiting and regurgitation. Children with neurodisability (such as cerebral palsy; CP) are predisposed to more severe GORD due to coexisting gut dysmotility and exclusive/supplementary liquid diet; however, there are no existing tools or outcome measures to assess the severity of GORD in this patient group. For children without CP, the 'Paediatric Gastro-oesophageal Symptom and Quality of Life Questionnaire' (PGSQ) assesses symptoms and response to treatment, but the questions are not suitable for children with significant cognitive impairment. We aimed to adapt the existing PGSQ assessment tool to enable use in evaluating children with CP and GORD. PATIENTS/INTERVENTIONS: Cognitive interviews were conducted by the research team with six parents/carers of children (aged 3-15) with CP (Gross Motor Function Classification System level V) who have current or past symptoms of reflux. They were asked to interpret the questionnaire using a 'think-aloud technique,' and offer suggestions on alterations to questions. Reasons for changing questions included confusing/difficult to understand questions, differing interpretations of questions and response choices not applying to the patient group. RESULTS: The PGSQ was modified iteratively following each interview. Overall, parents/carers reported that it was acceptable to recall information over the past 7 days. In the final version, it was felt the questions were relevant, useful and related to symptoms that they observed. It was easy to comprehend with no uncomfortable questions. Suggestions for future work included a section specifically focusing on the school day answered by school staff and home life answered by carers who assist them in the home. CONCLUSIONS: We have adapted the PGSQ to improve relevance and acceptability for families/carers of children with symptoms of GORD and neurodisability. Further work is needed to validate the questionnaire for this patient group.


Assuntos
Paralisia Cerebral , Refluxo Gastroesofágico , Humanos , Criança , Qualidade de Vida , Paralisia Cerebral/diagnóstico , Paralisia Cerebral/terapia , Paralisia Cerebral/complicações , Refluxo Gastroesofágico/diagnóstico , Refluxo Gastroesofágico/complicações , Refluxo Gastroesofágico/terapia , Inquéritos e Questionários , Avaliação de Resultados em Cuidados de Saúde
13.
Biomed Tech (Berl) ; 69(1): 49-59, 2024 Feb 26.
Artigo em Inglês | MEDLINE | ID: mdl-38354212

RESUMO

OBJECTIVES: Dysfunction of the central nervous system may inflict spastic movement disorder (SMD). Electrical stimuli were identified as promising therapeutic option. Electrical stimulation provided by a 58-electrode full body garment was investigated based on data from regular trial fittings. METHODS: Data from 72 testees were investigated. Age averages 36.6 (19.8) ys with 44 females. The cohort spans infantile cerebral paresis (CP) (n=29), multiple sclerosis (MS) (n=23) and stroke (n=20). Data were stratified by etiology and an entry BBS Score<45. RESULTS: Effect sizes (Cohen`s d) related BBS, TUG, FGA, 10mWT, WMFT, EQ5D5L and Pain. Significance levels are indicated by *: p<0.05, **: p<0.01, ***: p<0.001, (t): p<0.1: CP: 1.64***, 0.29*, 1.59***, 0.76(t), 1.00***, 0.5*, 1.28***; MS: 1.83***, 0.83***, 1.28**, 1.07***, 0.93*, 1,11**, 0.78*; Stroke: 1.28**, 0.78**, 0.89, 0.92**, 0.71, 1.26*, 0.78*. CONCLUSIONS: Multi-site transcutaneous electrical stimulation may increase ambulation related skills in subjects with SMD stemming from CP, MS and stroke. The results indicate effects on static and dynamic balance, fall risk, mobility, upper extremity improvement and an overall increase in health utility and a reduction in spasticity related pain. Effects are immediate as well as sustained. These results may inspire individual trial fittings and inform further controlled trials.


Assuntos
Paralisia Cerebral , Terapia por Estimulação Elétrica , Esclerose Múltipla , Acidente Vascular Cerebral , Feminino , Humanos , Paralisia Cerebral/terapia , Paralisia Cerebral/complicações , Paralisia Cerebral/diagnóstico , Esclerose Múltipla/terapia , Esclerose Múltipla/complicações , Neurônios Motores , Espasticidade Muscular/terapia , Terapia por Estimulação Elétrica/métodos , Dor/complicações , Vestuário
14.
Orphanet J Rare Dis ; 19(1): 45, 2024 Feb 07.
Artigo em Inglês | MEDLINE | ID: mdl-38326877

RESUMO

BACKGROUND: Protein phosphatase 2 regulatory subunit B' Delta (PPP2R5D)-related neurodevelopmental disorder is a rare genetic condition caused by pathogenic variants in the PPP2R5D gene. Clinical signs include hypotonia, gross motor delay, intellectual disability (ID), epilepsy, speech delays, and abnormal gait among other impairments. As this disorder was recognized within the last decade, there are only 103 people published diagnoses to date. A thorough understanding of the motor manifestations of this disorder has not yet been established. Knowledge of the natural history of PPP2R5D related neurodevelopmental disorder will lead to improved standard of care treatments as well as serve as a baseline foundation for future clinical trials. Appropriate outcome measures are necessary for use in clinical trials to uniformly measure function and monitor potential for change. The aim of this study was to validate the gross motor function measure (GMFM) in children and adults with PPP2R5D-related neurodevelopmental disorder in order to better characterize the disorder. RESULTS: Thirty-eight individuals with PPP2R5D pathogenic variants, median age 8.0 years (range 1-27) were evaluated. Gross motor, upper limb and ambulatory function were assessed using the GMFM-66, six-minute walk test (6MWT), 10-meter walk run (10MWR), timed up and go (TUG), and revised upper limb module (RULM). The pediatric disability inventory computer adapted test (PEDI-CAT) captured caregiver reported assessment. Median GMFM-66 score was 60.6 (SD = 17.3, range 21.1-96.0). There were strong associations between the GMFM-66 and related mobility measures, 10MWR (rs = -0.733; p < 0.001), TUG (rs= -0.747; p = 0.003), 6MWT (r = 0.633; p = 0.006), RULM (r = 0.763; p < 0.001), PEDICAT-mobility (r = 0.855; p < 0.001), and daily activities (r = 0.822; p < 0.001) domains. CONCLUSIONS: The GMFM is a valid measure for characterizing motor function in individuals with PPP2R5D related neurodevelopmental disorder. The GMFM-66 had strong associations with the RULM and timed function tests which characterized gross motor, upper limb and ambulatory function demonstrating concurrent validity. The GMFM-66 was also able to differentiate between functional levels in PPP2R5D related neurodevelopmental disorder demonstrating discriminant validity. Future studies should examine its sensitivity to change over time, ability to identify sub-phenotypes, and suitability as an outcome measure in future clinical trials in individuals with PPP2R5D variants.


Assuntos
Paralisia Cerebral , Deficiência Intelectual , Criança , Humanos , Lactente , Pré-Escolar , Adolescente , Adulto Jovem , Adulto , Paralisia Cerebral/diagnóstico , Marcha , Avaliação de Resultados em Cuidados de Saúde , Destreza Motora , Proteína Fosfatase 2/genética
15.
Trials ; 25(1): 147, 2024 Feb 26.
Artigo em Inglês | MEDLINE | ID: mdl-38409060

RESUMO

BACKGROUND: Besides motor impairments, up to 90% of the children and adolescents with unilateral cerebral palsy (uCP) present with somatosensory impairments in the upper limb. As somatosensory information is of utmost importance for coordinated movements and motor learning, somatosensory impairments can further compromise the effective use of the impaired upper limb in daily life activities. Yet, intervention approaches specifically designated to target these somatosensory impairments are insufficiently investigated in children and adolescents with uCP. Therefore, the aim of this randomized controlled trial (RCT) is to compare the effectiveness of somatosensory discrimination therapy and dose-matched motor therapy to improve sensorimotor upper limb function in children and adolescents with uCP, who experience somatosensory impairments in the upper limb. We will further explore potential behavioral and neurological predictors of therapy response. METHODS: A parallel group, evaluator-blinded, phase-II, single-center RCT will be conducted for which 50 children and adolescents with uCP, aged 7 to 15 years, will be recruited. Participants will be randomized to receive 3 weekly sessions of 45 minutes of either somatosensory discrimination therapy or upper limb motor therapy for a period of 8 weeks. Stratification will be performed based on age, manual ability, and severity of tactile impairment at baseline. Sensorimotor upper limb function will be evaluated at baseline, immediately after the intervention and after 6 months follow-up. The primary outcome measure will be bimanual performance as measured with the Assisting Hand Assessment. Secondary outcomes include a comprehensive test battery to objectify somatosensory function and measures of bimanual coordination, unimanual motor function, and goal attainment. Brain imaging will be performed at baseline to investigate structural brain lesion characteristics and structural connectivity of the white matter tracts. DISCUSSION: This protocol describes the design of an RCT comparing the effectiveness of somatosensory discrimination therapy and dose-matched motor therapy to improve sensorimotor upper limb function in children and adolescents with uCP. The results of this study may aid in the selection of the most effective upper limb therapy, specifically for children and adolescents with tactile impairments. TRIAL REGISTRATION: ClinicalTrials.gov (NCT06006065). Registered on August 8, 2023.


Assuntos
Paralisia Cerebral , Criança , Humanos , Adolescente , Paralisia Cerebral/diagnóstico , Paralisia Cerebral/terapia , Extremidade Superior , Mãos , Encéfalo , Ensaios Clínicos Controlados Aleatórios como Assunto
16.
Ann Med ; 56(1): 2309606, 2024 12.
Artigo em Inglês | MEDLINE | ID: mdl-38300887

RESUMO

INTRODUCTION: General Movement assessment (GMA) is considered the golden standard for early identification of infants with a high risk of developing cerebral palsy (CP). The aim of this study was to explore parents' lived experience of early risk assessment for CP using a mobile application for home video recording after discharge from hospital stay in the newborn period. METHODS: An inductive qualitative design using a hermeneutical phenomenological approach was chosen, and fourteen parents with children at risk of CP were interviewed at home. The hermeneutical phenomenological approach describes humans' lived experiences of a specific phenomenon with a possibility of deeper understanding of the expressed statements. The interviews were analyzed using the fundamental lifeworld existential dimensions as guidelines for describing the parents' lived experience. RESULTS: The overall understanding of the parents' experience was 'Finding control in an uncontrolled life situation'. During the often-long hospitalizations, the parents struggled with loss of control and difficulty in understanding what was going on. The use of the mobile application followed by a swift result made them feel in control and have a brighter view of the future. CONCLUSIONS: The findings suggest that the mobile application did not seem to worry the parents. Instead, it provided the parents with a sense of active participation in the care and treatment of their child. The mobile application should be accompanied with clear instructions and guidelines for the parents and details about how and when the result is given.


For the first time, parents' experiences concerning early assessment for cerebral palsy using a mobile application are profoundly explored.Early risk assessment for cerebral palsy performed by parents at home using a mobile application did not seem to increase the parents' worry; instead, it gave them a sense of control.Involving parents in the care and treatment of their child is vital to increase parental participation and control.


Assuntos
Paralisia Cerebral , Aplicativos Móveis , Criança , Recém-Nascido , Lactente , Humanos , Paralisia Cerebral/diagnóstico , Alta do Paciente , Pais , Hospitais , Medição de Risco
17.
Comput Biol Med ; 171: 108095, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38350399

RESUMO

Gait abnormalities are frequent in children and can be caused by different pathologies, such as cerebral palsy, neuromuscular disease, toe walker syndrome, etc. Analysis of the "gait pattern" (i.e., the way the person walks) using 3D analysis provides highly relevant clinical information. This information is used to guide therapeutic choices; however, it is underused in diagnostic processes, probably because of the lack of standardization of data collection methods. Therefore, 3D gait analysis is currently used as an assessment rather than a diagnostic tool. In this work, we aimed to determine if deep learning could be combined with 3D gait analysis data to diagnose gait disorders in children. We tested the diagnostic accuracy of deep learning methods combined with 3D gait analysis data from 371 children (148 with unilateral cerebral palsy, 60 with neuromuscular disease, 19 toe walkers, 60 with bilateral cerebral palsy, 25 stroke, and 59 typically developing children), with a total of 6400 gait cycles. We evaluated the accuracy, sensitivity, specificity, F1 score, Area Under the Curve (AUC) score, and confusion matrix of the predictions by ResNet, LSTM, and InceptionTime deep learning architectures for time series data. The deep learning-based models had good to excellent diagnostic accuracy (ranging from 0.77 to 0.99) for discrimination between healthy and pathological gait, discrimination between different etiologies of pathological gait (binary and multi-classification); and determining stroke onset time. LSTM performed best overall. This study revealed that the gait pattern contains specific, pathology-related information. These results open the way for an extension of 3D gait analysis from evaluation to diagnosis. Furthermore, the method we propose is a data-driven diagnostic model that can be trained and used without human intervention or expert knowledge. Furthermore, the method could be used to distinguish gait-related pathologies and their onset times beyond those studied in this research.


Assuntos
Paralisia Cerebral , Aprendizado Profundo , Doenças Neuromusculares , Acidente Vascular Cerebral , Criança , Humanos , Paralisia Cerebral/diagnóstico , Fenômenos Biomecânicos , Marcha , Doenças Neuromusculares/diagnóstico
18.
Pediatr Neurol ; 152: 56-61, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38211417

RESUMO

BACKGROUND: The Danish National Cerebral Palsy Follow-up Program (CPOP) is a nationwide program offering standardized treatment to all children with cerebral palsy (CP) since 2004. We aimed to establish if its implementation had a positive impact on the diagnostic age of CP. METHODS: Children with validated CP diagnoses were identified from the Danish Cerebral Palsy Registry and the CPOP. We then compared the age at diagnosis and the clinical features of children with CP born in 2000 to 2003 with those born in 2010 to 2013. Differences in time to diagnosis were compared using log-rank test. RESULTS: The age at diagnosis was not different in the two periods (P = 0.23), with identical overall median diagnostic ages at 13.0 months. The number of children with severe motor disability decreased markedly from 47.5% in 2000 to 2003 to 32.0% in 2010 to 2013 (P < 0.001). There was increased usage of cerebral magnetic resonance imaging; however, this was not associated with lower diagnostic age. CONCLUSIONS: The diagnostic age of CP did not change after the implementation of a nationwide follow-up program, offering standardized and early assessments. However, central clinical aspects also changed significantly between the periods compared, which possibly affected the diagnostic age.


Assuntos
Paralisia Cerebral , Pessoas com Deficiência , Transtornos Motores , Criança , Humanos , Adulto Jovem , Adulto , Paralisia Cerebral/diagnóstico , Paralisia Cerebral/terapia , Paralisia Cerebral/complicações , Seguimentos , Transtornos Motores/complicações , Imageamento por Ressonância Magnética
19.
Artigo em Russo | MEDLINE | ID: mdl-38261281

RESUMO

The article is devoted to an urgent problem of modern neurology - early diagnosis and complex restorative treatment of cerebral palsy (cerebral palsy). Etiological factors and pathogenetic aspects of the formation of various forms of cerebral palsy are considered in detail, as well as modern possibilities of differential diagnosis in children of the first years of life of cerebral palsy and a wide range of pathological conditions (somatic, endocrine, hereditary-conditioned, including hereditary-metabolic and neuromuscular diseases). The leading directions of complex rehabilitation of cerebral palsy are widely presented, taking into account modern standards and clinical recommendations. The high efficacy of the drug Cortexin has been shown, due to its positive multimodal action (stimulation of the processes of neuropreparation, neuroprotection, neuroplasticity) in the treatment of motor, cognitive and autonomic disorders in children with perinatal lesions of the central nervous system and cerebral palsy.


Assuntos
Doenças do Sistema Nervoso Autônomo , Paralisia Cerebral , Criança , Feminino , Gravidez , Humanos , Paralisia Cerebral/diagnóstico , Paralisia Cerebral/terapia , Diagnóstico Diferencial , Sistema Nervoso Central , Diagnóstico Precoce
20.
Expert Rev Med Devices ; 21(3): 179-186, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38166497

RESUMO

INTRODUCTION: Single-pulse transcranial magnetic stimulation (TMS) has many applications for pediatric clinical populations, including infants with perinatal brain injury. As a noninvasive neuromodulation tool, single-pulse TMS has been used safely in infants and children to assess corticospinal integrity and circuitry patterns. TMS may have important applications in early detection of atypical motor development or cerebral palsy. AREAS COVERED: The authors identified and summarized relevant studies incorporating TMS in infants, including findings related to corticospinal development and circuitry, motor cortex localization and mapping, and safety. This special report also describes methodologies and safety considerations related to TMS assessment in infants, and discusses potential applications related to diagnosis of cerebral palsy and early intervention. EXPERT OPINION: Single-pulse TMS has demonstrated safety and feasibility in infants with perinatal brain injury and may provide insight into neuromotor development and potential cerebral palsy diagnosis. Additional research in larger sample sizes will more fully evaluate the utility of TMS biomarkers in early diagnosis and intervention. Methodological challenges to performing TMS in infants and technical/equipment limitations require additional consideration and innovation toward clinical implementation. Future research may explore use of noninvasive neuromodulation techniques as an intervention in younger children with perinatal brain injury to improve motor outcomes.


Single pulse transcranial magnetic stimulation (TMS) is a safe and noninvasive way to study brain activity in infants and children who have experienced brain injuries around the time of birth. Infants who have had an early brain injury may develop cerebral palsy, a developmental disability that affects movement. TMS uses a device that gives single pulses of energy to activate specific areas of the brain. This can be used to study how the brain connects to the muscles in the body through paths or 'tracts.' TMS helps researchers understand the development of the tracts and the potential need for therapy. This article reviews research studies that used TMS in infants and explains how TMS can be used to assess brain development. It also reviews safety considerations and challenges related to using TMS in infants. TMS could be a valuable tool for early diagnosis of cerebral palsy and could also help guide treatments for infants with brain injuries. However, more research is needed, using larger groups of infants, to potentially expand the use of TMS in clinical practice. Future directions include developing infant-specific research tools and using noninvasive brain stimulation to improve recovery for infants with brain injuries.


Assuntos
Lesões Encefálicas , Paralisia Cerebral , Córtex Motor , Lactente , Criança , Humanos , Estimulação Magnética Transcraniana/métodos , Paralisia Cerebral/diagnóstico , Paralisia Cerebral/terapia , Lesões Encefálicas/diagnóstico , Lesões Encefálicas/terapia
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA