RESUMO
Capillary malformations (CMs) are the most common type of vascular anomalies, affecting around 0.3% of newborns. They are usually caused by somatic pathogenic variants in GNAQ or GNA11. PIK3CA and PIK3R1, part of the phosphoinositide 3-kinase-protein kinase B-mammalian target of rapamycin pathway, are mutated in fainter CMs such as diffuse CM with overgrowth and megalencephaly CM. In this study, we present two young patients with a CM-like phenotype associated with cerebral anomalies and severe epilepsy. Pathogenic variants in PIK3CA and PIK3R1, as well as GNAQ and GNA11, were absent in affected cutaneous tissue biopsies. Instead, we identified two somatic pathogenic variants in the AKT3 gene. Subsequent analysis of the DNA obtained from surgically resected brain tissue of one of the two patients confirmed the presence of the AKT3 variant. Focal cortical dysplasia was also detected in this patient. Genetic analysis thus facilitated workup to reach a precise diagnosis for these patients, associating the vascular anomaly with the neurological symptoms. This study underscores the importance of searching for additional signs and symptoms to guide the diagnostic workup, especially in cases with atypical vascular malformations. In addition, it strongly emphasizes the significance of genotype-phenotype correlation studies in guiding clinicians' informed decision-making regarding patient care.
Assuntos
Capilares , Epilepsia , Proteínas Proto-Oncogênicas c-akt , Telangiectasia , Malformações Vasculares , Feminino , Humanos , Recém-Nascido , Masculino , Capilares/anormalidades , Capilares/patologia , Epilepsia/genética , Epilepsia/patologia , Estudos de Associação Genética , Predisposição Genética para Doença , Mosaicismo , Mutação/genética , Fenótipo , Proteínas Proto-Oncogênicas c-akt/genética , Telangiectasia/genética , Telangiectasia/patologia , Telangiectasia/diagnóstico , Malformações Vasculares/genética , Malformações Vasculares/patologia , Malformações Vasculares/diagnóstico , Malformações Vasculares/complicações , AdolescenteRESUMO
BACKGROUND: Antenatal psychosocial vulnerability is a main concern in today's perinatal health care setting. Undetected psychosocially vulnerable pregnant women and their unborn child are at risk for unfavourable health outcomes such as poor birth outcomes or mental state. In order to detect potential risks and prevent worse outcomes, timely and accurate detection of antenatal psychosocial vulnerability is necessary. Therefore, this paper aims to develop a screening tool 'the Born in Brussels Screening Tool (ST)' aimed at detecting antenatal psychosocial vulnerability. METHODS: The Born in Brussels ST was developed based on a literature search of existing screening tools measuring antenatal psychosocial vulnerability. Indicators and items (i.e. questions) were evaluated and selected. The assigned points for the answer options were determined based on a survey sent out to caregivers experienced in antenatal (psychosocial) vulnerability. Further refinement of the tool's content and the assigned points was based on expert panels' advice. RESULTS: The Born in Brussels ST consists of 22 items that focus on 13 indicators: communication, place of birth, residence status, education, occupational status, partner's occupation, financial situation, housing situation, social support, depression, anxiety, substance use and domestic violence. Based on the 168 caregivers who participated in the survey, assigned points account between 0,5 and 4. Threshold scores of each indicator were associated with adapted care paths. CONCLUSION: Generalied and accurate detection of antenatal psychosocial vulnerability is needed. The brief and practical oriented Born in Brussels ST is a first step that can lead to an adequate and adapted care pathway for vulnerable pregnant women.
Assuntos
Violência Doméstica , Gestantes , Ansiedade , Criança , Feminino , Humanos , Programas de Rastreamento , Gravidez , Cuidado Pré-Natal , Fatores de Risco , Apoio SocialRESUMO
OBJECTIVE: To investigate the reliability of parents-reported activity questionnaires after a motor-skill learning intervention for children with cerebral palsy (CP). We hypothesize that the intervention process might influence parental judgment. DESIGN: Double-blind randomized trial. SETTING: Conventional therapy was delivered in the usual context while intensive intervention was provided at the Catholic University of Louvain. PARTICIPANTS: Children with CP (N=41; age range 5-18y, Gross Motor Function Classification System I-IV) were randomized to a control group (CG) (n=21, 2 dropouts) receiving conventional therapy or an intervention group (IG) (n=20) receiving hand-arm bimanual intensive therapy-including lower extremities (HABIT-ILE). INTERVENTIONS: Conventional therapy (mostly neurodevelopmental) was delivered as ongoing treatment (1-5 times/wk). HABIT-ILE, based on motor-skill learning, was delivered over 2 weeks. All children were assessed at T1 (baseline), T2 (3wk after baseline) and T3 (4mo after baseline). MAIN OUTCOMES MEASURES: ABILHAND-Kids and ACTIVLIM-CP questionnaires rated by parents (perception) and 2 examiners (videotapes). RESULTS: Agreement (level/range) between examiners was systematically almost perfect (P≤.001). At baseline, moderate to almost perfect agreement (level/range) was observed between parents and examiners (P≤.001). At T2 and T3, a similar agreement (level/range) was observed for the CG. For the IG, a similar level of agreement was observed, but the range of agreement varied from poor to almost perfect (P≤.001), with parents estimating higher performance measures compared to examiners after intervention. Higher performance was associated with higher satisfaction scores of the child's functional goals at T3. CONCLUSION: Parents and examiners have a similar perception of the child's performance at baseline and during conventional therapy. Their perceptions are less congruent after a motor-skill learning intervention, probably due to the goal-oriented process of the intervention. Therefore, our results favor the use of blind observations of home-videotaped items after intensive motor-skill learning interventions.
Assuntos
Paralisia Cerebral/reabilitação , Destreza Motora , Pais , Inquéritos e Questionários , Adolescente , Paralisia Cerebral/fisiopatologia , Criança , Pré-Escolar , Método Duplo-Cego , Humanos , Masculino , Variações Dependentes do Observador , Satisfação do Paciente , Reprodutibilidade dos Testes , Resultado do TratamentoRESUMO
AIM: To investigate the responsiveness of the ACTIVLIM-CP questionnaire after two evidence-based interventions for children with cerebral palsy (CP). METHOD: Seventy-five children with CP either participated in an intensive motor-skill learning intervention (hand-arm bimanual intensive therapy including lower extremities [HABIT-ILE], n=47) or received botulinum neurotoxin-A (BoNT-A) injection(s) into lower extremities combined with conventional physical therapy (n=28). All children were assessed three times: at baseline (T0 ; before HABIT-ILE/the day of BoNT-A injection), at T1 (last day of HABIT-ILE/6wks after BoNT-A injection), and at follow-up (T2 ; 3-4mo after the beginning of intervention). Parents completed ACTIVLIM-CP and three other activity questionnaires. Responsiveness was analysed using group (based on intervention), subgroup (based on gross motor function level), and individual approaches. RESULTS: For the HABIT-ILE group, significant improvements in ACTIVLIM-CP were observed for the T0 -T1 period (p<0.001) but not for the T1 -T2 period. No significant changes were found in the BoNT-A group during assessments (p=0.84). In the subgroup analysis for the HABIT-ILE group (T0 -T1 ), greater changes were demonstrated for children in Gross Motor Function Classification System levels III and IV (p<0.001, effect size=1.36). The individual approach was congruent with the group approach. INTERPRETATION: ACTIVLIM-CP demonstrated high responsiveness after HABIT-ILE, showing that this scale may be used to investigate global activity performance in clinical trials focusing on improving daily life activities. WHAT THIS PAPER ADDS: Good responsiveness of ACTIVLIM-CP questionnaire during intensive motor-skill learning intervention. Higher responsiveness for children in Gross Motor Function Classification System (GMFCS) levels III and IV versus I and II after intensive intervention. ACTIVLIM-CP is useful to identify children improving their performance after botulinum neurotoxin-A injection.
Assuntos
Paralisia Cerebral/diagnóstico , Paralisia Cerebral/terapia , Atividade Motora , Inquéritos e Questionários , Toxinas Botulínicas Tipo A/administração & dosagem , Paralisia Cerebral/fisiopatologia , Criança , Prática Clínica Baseada em Evidências , Feminino , Seguimentos , Humanos , Injeções , Masculino , Fármacos Neuromusculares/administração & dosagem , Modalidades de Fisioterapia , Índice de Gravidade de Doença , Resultado do TratamentoRESUMO
AIM: An approach that simultaneously engages both the upper and lower extremities, hand-arm bimanual intensive therapy including lower extremity (HABIT-ILE), has recently demonstrated improvements in upper and lower extremities in children with unilateral cerebral palsy (CP). It is not known whether children with bilateral CP would benefit from this approach. The aim of this study was to examine the efficacy of HABIT-ILE in children with bilateral CP. METHOD: A quasi-randomized trial design was used, whereby 20 participants (age 6-15y, Gross Motor Function Classification System levels II-IV, Manual Ability Classification System levels I-III) were assigned to a treatment (HABIT-ILE) or a comparison group in the order in which they were enrolled. Children in the HABIT-ILE group were assessed before and after 84 hours of intervention over 13 days, as well as at 3 months' follow-up. Children in the comparison group were assessed at the same time points. Children in both groups were assessed using the Gross Motor Function Measure (GMFM-66) and ABILHAND-Kids (primary measures), and six secondary measures. RESULTS: A group×test session interaction indicated significant improvements in the HABIT-ILE group as assessed by the GMFM-66, lower-extremity performance (6-Minute Walk Test; Pediatric Balance Scale), functional upper-extremity abilities (ABILHAND-Kids/Pediatric Evaluation of Disability Inventory), and the dexterity of the less affected upper extremity. CONCLUSION: HABIT-ILE is efficacious for improving both upper- and lower-extremity function in children with bilateral CP.
Assuntos
Braço , Paralisia Cerebral/reabilitação , Terapia por Exercício , Mãos , Extremidade Inferior , Adolescente , Braço/fisiopatologia , Paralisia Cerebral/fisiopatologia , Criança , Feminino , Seguimentos , Lateralidade Funcional , Mãos/fisiopatologia , Humanos , Extremidade Inferior/fisiopatologia , Masculino , Atividade Motora , Projetos Piloto , Equilíbrio Postural , Índice de Gravidade de Doença , Inquéritos e Questionários , Resultado do Tratamento , Teste de Caminhada , CaminhadaRESUMO
OBJECTIVES: To monitor treatment effects in patients with congenital myopathies and congenital muscular dystrophies, valid outcome measures are necessary. The Motor Function Measure (MFM) was examined for robustness, and changes are proposed for better adequacy. DESIGN: Observational study based on data previously collected from several cohorts. SETTING: Nineteen departments of physical medicine or neuromuscular consultation in France, Belgium, and the United States. PARTICIPANTS: Patients (N=289) aged 5 to 77 years. INTERVENTIONS: None. MAIN OUTCOME MEASURES: A Rasch analysis examined the robustness of the MFM across the disease spectrum. The 3 domains of the scale (standing position and transfers, axial and proximal motor function, and distal motor function) were independently examined with a partial credit model. RESULTS: The original 32-item MFM did not sufficiently fit the Rasch model expectations in either of its domains. Switching from a 4- to a 3-category response scale in 18 items restored response order in 16. Various additional checks suggested the removal of 7 items. The resulting Rasch-scaled Motor Function Measure with 25 items for congenital disorders of the muscle (Rs-MFM25(CDM)) demonstrated a good fit to the Rasch model. Domain 1 was well targeted to the whole severity spectrum-close mean locations for items and persons (0 vs 0.316)-whereas domains 2 and 3 were better targeted to severe cases. The reliability coefficients of the Rs-MFM25(CDM) suggested sufficient ability for each summed score to distinguish between patient groups (0.9, 0.8, and 0.7 for domains 1, 2, and 3, respectively). A sufficient agreement was found between results of the Rasch analysis and physical therapists' opinions. CONCLUSIONS: The Rs-MFM25(CDM) can be considered a clinically relevant linear scale in each of its 3 domains and may be soon reliably used for assessment in congenital disorders of the muscle.
Assuntos
Atividade Motora/fisiologia , Destreza Motora/fisiologia , Distrofias Musculares/fisiopatologia , Postura , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Distrofias Musculares/congênito , Distrofias Musculares/reabilitação , Psicometria , Reprodutibilidade dos Testes , Resultado do Tratamento , Adulto JovemRESUMO
Background. In children with unilateral cerebral palsy (UCP), the fibers of the corticospinal tract (CST) emerging from the lesioned hemisphere are damaged following the initial brain injury. The extent to which the integrity of these fibers is restorable with training is unknown. Objective. To assess changes in CST integrity in children with UCP following Hand-and-Arm-Bimanual-Intensive-Therapy-Including-Lower-Extremity (HABIT-ILE) compared to a control group. Methods. Forty-four children with UCP participated in this study. Integrity of the CSTs was measured using diffusion tensor imaging before and after 2 weeks of HABIT-ILE (treatment group, n = 23) or 2 weeks apart without intensive treatment (control group, n = 18). Fractional anisotropy (FA) and mean diffusivity (MD) were the endpoints for assessing the integrity of CST. Results. As highlighted in our whole tract analysis, the FA of the CST originating from the nonlesioned and lesioned hemispheres increased significantly after therapy in the treatment group compared to the control group (group * test session interaction: P < .001 and P = .049, respectively). A decrease in MD was also observed in the CST emerging from the nonlesioned and lesioned hemispheres (group * time interaction: both P < .001). In addition, changes in manual ability correlated with changes in FA in both CSTs (r = 0.463, P = .024; r = 0.643, P < .001) and changes in MD in CST emerging from nonlesioned hemisphere (r = -0.662, P < .001). Conclusions. HABIT-ILE improves FA/MD in the CST and hand function of children with UCP, suggesting that CST fibers retain a capacity for functional restoration. This finding supports the application of intensive motor skill training in clinical practice for the benefit of numerous patients.
Assuntos
Braço/fisiopatologia , Paralisia Cerebral/reabilitação , Destreza Motora/fisiologia , Fibras Nervosas , Reabilitação Neurológica , Prática Psicológica , Tratos Piramidais , Adolescente , Paralisia Cerebral/complicações , Paralisia Cerebral/patologia , Paralisia Cerebral/fisiopatologia , Criança , Imagem de Tensor de Difusão , Feminino , Humanos , Extremidade Inferior/fisiopatologia , Masculino , Fibras Nervosas/patologia , Fibras Nervosas/fisiologia , Reabilitação Neurológica/métodos , Avaliação de Processos e Resultados em Cuidados de Saúde , Equilíbrio Postural/fisiologia , Tratos Piramidais/diagnóstico por imagem , Tratos Piramidais/patologia , Tratos Piramidais/fisiopatologiaRESUMO
BACKGROUNDROBiGAME project aims to implement serious games on robots to rehabilitate upper limb (UL) in stroke patients. The serious game characteristics (target position, level of assistance/resistance, level of force) are adapted based on the patient's assessment before and continuously during the game (measuring UL working area, kinematics and muscle strength).OBJECTIVETo develop an UL robotic motor assessment protocol to configure the serious game.METHODS32 healthy subjects and 20 stroke patients participated in the study. Subjects were clinically assessed (UL length and isometric force) and using a robot. The robot assessment consisted of the patient's UL working area (WA), the UL isometric and isokinetic force in three directions and the UL kinematics during a pointing task toward targets placed at different distances.RESULTSThe WA and the UL isometric force were moderately to highly correlated with clinical measures (respectively ρ=â0.52; pâ=â0.003, ρ=â0.68-0.73; pâ<â0.001). Ratios between the UL isokinetic force generated on three directions were established. The velocity and straightness indexes of all subjects increased when subjects had to reach to targets placed more distantly (r=â0.82-0.90; ρ=â0.86-0.90 respectively; pâ<â0.001).CONCLUSIONSThis protocol can be integrated into a serious game in order to continuously configure the game characteristics to patient's performance.
Assuntos
Robótica/métodos , Reabilitação do Acidente Vascular Cerebral/métodos , Extremidade Superior/fisiopatologia , Adulto , Idoso , Fenômenos Biomecânicos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Destreza Motora , Força Muscular , Robótica/instrumentação , Reabilitação do Acidente Vascular Cerebral/instrumentaçãoRESUMO
BACKGROUND: The ROBiGAME project aims to implement serious games on robots to rehabilitate upper limb (UL) motor function in children with cerebral palsy (CP). Serious game characteristics (target position, level of assistance/resistance, level of force) are typically adapted based on the child's assessment before and continuously during the game (measuring UL working area, kinematics and muscle strength). OBJECTIVE: This study developed an UL robotic motor assessment protocol to configure the serious game. METHODS: Forty-nine healthy children and 20 CP children participated in the study. The clinical assessment consisted of the child's UL length and isometric force. The robot assessment consisted of the child's UL working area (WA), the UL isometric and isokinetic force in three directions and the UL kinematics during a pointing task toward targets placed at different distances. RESULTS: Results showed that WA and UL isometric force were moderately to highly correlated with clinical measures. Ratios between the UL isokinetic force generated on three directions were established. The velocity and straightness indexes of all children increased when they had to reach to targets placed more distant. CONCLUSIONS: This protocol can be integrated into different serious games in order to continuously configure the game characteristics to a child's performance. TRIAL REGISTRATION: The study was registered at ClinicalTrials.gov (NCT02543424), 12 August 2015.
Assuntos
Paralisia Cerebral/fisiopatologia , Destreza Motora , Exame Neurológico/métodos , Robótica/métodos , Extremidade Superior/fisiopatologia , Fenômenos Biomecânicos , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Força MuscularRESUMO
BACKGROUND: Research investigating action observation-execution priming has mainly manipulated congruent versus incongruent action, and aspects of action expertise/capability. More specifically, the literature suggests enhanced performance priming following action observation by actors closely matched to participant expertise. The aim of the present study was to extend the understanding of action expertise effects by investigating action priming in healthy participants after observing a mild hemiparetic child actor versus a neurologically healthy child actor. METHODS: 16 healthy right-handed children, aged 6-13 years were tested. Several motor assessments were performed, including gross and fine manual motor ability, and upper limb kinematics measured using a precise robotic device. A cross-over design consisted in two experimental conditions (observing actions performed by a child with hemiparesis versus observing actions performed by a healthy child) and a pre-observation double baseline control condition, with the data analyzed using repeated measures ANOVA. RESULTS: Relative to baseline, both types of action observation conditions enhanced fine manual dexterity, but observing the hemiparetic child enhanced gross manual dexterity and upper limb velocity kinematics relative to observing actions performed by a healthy child. No effects were shown on measures of smoothness and accuracy. DISCUSSION: Contradictorily to hypotheses discussed in the literature, results here showed evidence of enhanced action execution when healthy children observed hemiparetic compared to healthy child actions. These results are discussed in terms of how patient compared to healthy actors may be useful for clinical action observation priming therapy.
Assuntos
Crianças com Deficiência/reabilitação , Mãos/fisiologia , Movimento/fisiologia , Desempenho Psicomotor/fisiologia , Extremidade Superior/fisiologia , Adolescente , Fenômenos Biomecânicos/fisiologia , Criança , Feminino , Humanos , Masculino , Atividade Motora/fisiologia , Paresia/patologiaRESUMO
OBJECTIVE: Children with cerebral palsy (CP) often have upper extremity (UE) and lower extremity (LE) impairments. While tools measuring separately UE and LE abilities are currently used, activities in which UE and LE are used in combination - numerous in everyday life - cannot be assessed because no instrument allows capturing global activity performance in children with CP. This study aimed to develop a clinical tool for measuring their global activity performance using the Rasch model. STUDY DESIGN: The caregivers of 226 children with CP (2-18 years old) answered a 154-item experimental questionnaire. Within 4-6 weeks, 129 of them filled in the questionnaire a second time. Responses were analyzed using the Rasch RUMM2020 software. RESULTS: The final 43 item scale presented a high reliability (R=0.98) and reproducibility (R=0.97). The item difficulty hierarchy was consistent over time and did not vary according to age, gender, or clinical form, allowing the follow-up of children from 2 to 18 years old. CONCLUSIONS: ACTIVLIM-CP is a unidimensional scale specifically developed to measure global activity performance in children with CP providing a reliable tool to follow children's evolution and document changes related to neurorehabilitation, especially where a combination of UE and LE is targeted. Its responsiveness is still to be tested.
Assuntos
Atividades Cotidianas , Paralisia Cerebral/fisiopatologia , Atividade Motora , Pais , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Extremidade Inferior , Masculino , Reprodutibilidade dos Testes , Inquéritos e Questionários , Extremidade SuperiorAssuntos
Paralisia Cerebral/reabilitação , Terapia por Exercício/métodos , Lateralidade Funcional/fisiologia , Modalidades de Fisioterapia , Pré-Escolar , Estudos de Viabilidade , Feminino , Mãos , Força da Mão/fisiologia , Humanos , Lactente , Masculino , Destreza Motora/fisiologia , Projetos Piloto , Resultado do TratamentoRESUMO
BACKGROUND: Several pilot studies have evoked interest in robot-assisted therapy (RAT) in children with cerebral palsy (CP). OBJECTIVE: To assess the effectiveness of RAT in children with CP through a single-blind randomized controlled trial. PATIENTS AND METHODS: Sixteen children with CP were randomized into 2 groups. Eight children performed 5 conventional therapy sessions per week over 8 weeks (control group). Eight children completed 3 conventional therapy sessions and 2 robot-assisted sessions per week over 8 weeks (robotic group). For both groups, each therapy session lasted 45 minutes. Throughout each RAT session, the patient attempted to reach several targets consecutively with the REAPlan. The REAPlan is a distal effector robot that allows for displacements of the upper limb in the horizontal plane. A blinded assessment was performed before and after the intervention with respect to the International Classification of Functioning framework: body structure and function (upper limb kinematics, Box and Block test, Quality of Upper Extremity Skills Test, strength, and spasticity), activities (Abilhand-Kids, Pediatric Evaluation of Disability Inventory), and participation (Life Habits). RESULTS: During each RAT session, patients performed 744 movements on average with the REAPlan. Among the variables assessed, the smoothness of movement (P < .01) and manual dexterity assessed by the Box and Block test (P = .04) improved significantly more in the robotic group than in the control group. CONCLUSIONS: This single-blind randomized controlled trial provides the first evidence that RAT is effective in children with CP. Future studies should investigate the long-term effects of this therapy.
Assuntos
Paralisia Cerebral/reabilitação , Robótica , Extremidade Superior , Fenômenos Biomecânicos , Paralisia Cerebral/fisiopatologia , Criança , Avaliação da Deficiência , Humanos , Aprendizagem , Desempenho Psicomotor/fisiologia , Robótica/métodos , Método Simples-Cego , Resultado do Tratamento , Extremidade Superior/fisiopatologiaRESUMO
Multilevel surgery is commonly performed to improve walking in children with cerebral palsy (CP). Classical gait analysis (kinetics, kinematics) demonstrated positive outcomes after this intervention, however it doesn't give global indication about gait's features. The assessment of energy cost and mechanical work of locomotion can provide an overall description of walking functionality. Therefore, we propose to describe the effects of multilevel surgery in children with CP, considering energetics, mechanical work, kinetic and kinematic of walking. We measured external, internal, total work, energy cost, recovery, efficiency, kinetic and kinematic of walking in 10 children with CP (4 girls, 6 boys; 13 years ± 2) before and 1 year after multilevel surgery. Kinetic and kinematic results are partially comparable to previous findings, energy cost of walking is significantly reduced (p < 0.05); external, internal, total work, recovery, efficiency are not significantly different (p = 0.129; p = 0.147; p = 0.795; p = 0.119; p = 0.21). The improvement of the walking's energy consumption is not accompanied by a corresponding improvement of mechanical work. Therefore it is conceivable that the improvement of walking economy depend on a reduced effort of the muscle to maintain the posture, rather then to an improvement of the mechanism of energy recovery typical of human locomotion.
Assuntos
Paralisia Cerebral/fisiopatologia , Metabolismo Energético/fisiologia , Transtornos Neurológicos da Marcha/fisiopatologia , Adolescente , Fenômenos Biomecânicos/fisiologia , Paralisia Cerebral/cirurgia , Criança , Feminino , Humanos , Locomoção/fisiologia , Masculino , Estudos ProspectivosRESUMO
An interdisciplinary European group of clinical experts in the field of movement disorders and experienced Botulinum toxin users has updated the consensus for the use of Botulinum toxin in the treatment of children with cerebral palsy (CP). A problem-orientated approach was used focussing on both published and practice-based evidence. In part I of the consensus the authors have tabulated the supporting evidence to produce a concise but comprehensive information base, pooling data and experience from 36 institutions in 9 European countries which involves more than 10,000 patients and over 45,000 treatment sessions during a period of more than 280 treatment years. In part II of the consensus the Gross Motor Function Measure (GMFM) and Gross Motor Function Classification System (GMFCS) based Motor Development Curves have been expanded to provide a graphical framework on how to treat the motor disorders in children with CP. This graph is named "CP(Graph) Treatment Modalities - Gross Motor Function" and is intended to facilitate communication between parents, therapists and medical doctors concerning (1) achievable motor function, (2) realistic goal-setting and (3) treatment perspectives for children with CP. The updated European consensus 2009 summarises the current understanding regarding an integrated, multidisciplinary treatment approach using Botulinum toxin for the treatment of children with CP.
Assuntos
Antidiscinéticos/uso terapêutico , Toxinas Botulínicas/uso terapêutico , Paralisia Cerebral/tratamento farmacológico , Consenso , Pediatria , Antidiscinéticos/normas , Toxinas Botulínicas/normas , Europa (Continente)/epidemiologia , HumanosRESUMO
Many authors have reported increased energy expenditure during walking in children with hemiplegia. The origin of this increase is not well documented. The aim of our study was to understand better the origin of this increased energy expenditure of walking in children with cerebral palsy (CP) by simultaneously assessing the total mechanical work performed by the muscles and the efficiency of the work production.Twenty independently walking children with spastic, hemiplegic CP and a dynamic foot equinus deformity participated in the study. Instrumented gait analysis, including the analysis of kinematic, mechanical, and energetic variables, was performed. Despite excellent Gross Motor Function Measurement scores (range, 97-99), the energy cost was 1.3 times greater in children with CP than in healthy children. This increase in energy cost was related to an increase in the total positive mechanical work performed by the muscles and not related to a decrease in the efficiency of this work production. This study shows how segmental impairments (foot spastic equinus) increase the total mechanical work performed by the muscles and the energetic cost and how these segmental impairments contribute to the patient's disability. It is useful to associate the clinical examination, classic gait analysis, mechanical work, and energetic assessment to complete the evaluation of the condition of children with CP.
Assuntos
Paralisia Cerebral/fisiopatologia , Metabolismo Energético , Hemiplegia/fisiopatologia , Caminhada/fisiologia , Fenômenos Biomecânicos , Criança , Pé Equino , Feminino , Marcha , Humanos , Atividade Motora , Espasticidade MuscularRESUMO
We assessed the influence of equinus gait treatments on the vertical displacement of the body's centre of mass (COM) in 21 patients with cerebral palsy (14 males, 7 females; mean age 8 y 9 mo [SD 2 y]; range 3 y 7 mo-17 y) presenting different topographical types (quadriplegia, n = 1; diplegia, n = 6; right hemiplegia, n = 6; and left hemiplegia, n = 8). Vertical COM displacement was computed from ground reaction forces, and lower limb kinematics was recorded simultaneously. Equinus gait was treated with non-operative treatments (i.e. botulinum toxin injections and stretching casts) in 14 patients, and with operative treatments in seven patients. After non-operative treatments, the entire ankle displacement shifted towards dorsiflexion throughout the gait cycle, but the amplitude of the third foot rocker (TR) and vertical COM displacement remained unchanged. However, after operative treatments, the amplitude of TR increased and vertical COM displacement decreased. A negative linear correlation was found between the former variables in all the patients where 53% of the changes in their vertical COM displacement, after equinus gait treatments, were explained by the changes in TR amplitude. In fact, TR remains a main gait determinant, reducing the vertical COM displacement after equinus gait treatment and influencing the general gait pattern.
Assuntos
Toxinas Botulínicas Tipo A/uso terapêutico , Paralisia Cerebral/fisiopatologia , Pé Equino/terapia , Fármacos Neuromusculares/uso terapêutico , Ortopedia/métodos , Equilíbrio Postural , Adolescente , Fenômenos Biomecânicos , Paralisia Cerebral/complicações , Criança , Pré-Escolar , Pé Equino/etiologia , Feminino , Humanos , Joelho/fisiopatologia , Joelho/cirurgia , Masculino , Equilíbrio Postural/efeitos dos fármacos , Equilíbrio Postural/fisiologia , Estudos Retrospectivos , Estatísticas não ParamétricasRESUMO
OBJECTIVE: To develop a clinical tool for measuring manual ability (ABILHAND-Kids) in children with cerebral palsy (CP) using the Rasch measurement model. METHODS: The authors developed a 74-item questionnaire based on existing scales and experts' advice. The questionnaire was submitted to 113 children with CP (59% boys; mean age, 10 years) without major intellectual deficits (IQ > 60) and to their parents, and resubmitted to both groups after 1 month. The children's and parents' responses were analyzed separately with the WINSTEPS Rasch software to select items presenting an ordered rating scale, sharing the same discrimination, and fitting a unidimensional scale. RESULTS: The final ABILHAND-Kids scale consisted of 21 mostly bimanual items rated by the parents. The parents reported a finer perception of their children's ability than the children themselves, leading to a wider range of measurement, a higher reliability (R = 0.94), and a good reproducibility over time (R = 0.91). The item difficulty hierarchy was consistent between the parents and the experts. The ABILHAND-kids measures are significantly related to school education, type of CP, and gross motor function. CONCLUSIONS: ABILHAND-Kids is a functional scale specifically developed to measure manual ability in children with CP providing guidelines for goal setting in treatment planning. Its range and measurement precision are appropriate for clinical practice.