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1.
Acta Orthop Belg ; 89(2): 183-194, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37924533

RESUMO

Background: Pronation deformity in patients with cerebral palsy can have a major impact on upper limb functionality. There is lack of consensus in the literature about the preferred surgical technique to address this deformity. Study aim: To evaluate and synthesize the outcome of different surgical techniques for pronation deformity in patients with cerebral palsy. Methodology: The databases MEDLINE and Embase were searched for publications up to December 2021. Articles were considered eligible for inclusion when the included patients had a pronation deformity caused by cerebral palsy and results of surgical intervention for pronation deformity were examined. Evaluation of the quality of the retrieved study was conducted using the MINORS tool. Meta-analysis was not possible due to the heterogeneity of interventions and reported outcomes. Results: Nineteen studies, involving 475 patients and eight different techniques were included. All studies reported gain of active supination in most patients. The effect of surgery on functional gain was less clear and there was a large heterogeneity of reported functional outcome measures. There were 46 reported complications. Overall quality of study design was poor, illustrated by the average MINOR score of 6.9/16. Overall, there is a high risk of bias due to poor internal and external validity of the studies. Conclusion: Despite positive reports on gain in supination and functionality after most procedures addressing pronation deformity in CP patients, no conclusions can be drawn concerning the preferred technique due to the low quality of the evidence.


Assuntos
Paralisia Cerebral , Antebraço , Humanos , Antebraço/cirurgia , Paralisia Cerebral/complicações , Paralisia Cerebral/cirurgia , Pronação , Extremidade Superior , Avaliação de Resultados em Cuidados de Saúde , Supinação
2.
Eur J Paediatr Neurol ; 46: 8-23, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37364404

RESUMO

AIM: To report on the prevalence, neuroimaging patterns, and function of children with cerebral palsy (CP) in Belgium for birth years 2007-2012, and identify distinctive risk indicators and differences in outcome between CP subtypes. METHODS: Antenatal and perinatal/neonatal factors, motor and speech function, associated impairments, and neuroimaging patterns were extracted from the Belgian Cerebral Palsy Register. Prevalence was estimated per 1000 (overall, ante/perinatal, spastic, dyskinetic CP) or 10,000 (post-neonatal, ataxic CP) live births. Multinomial logistic regression analyses were performed to ascertain the effects of antenatal/perinatal/neonatal factors and neuroimaging patterns on the likelihood of dyskinetic or ataxic CP relative to spastic CP, and test the likelihood of the occurrence of impaired motor and speech function and associated impairments in dyskinetic or ataxic CP relative to spastic CP. RESULTS: In total, 1127 children with CP were identified in Belgium. The birth prevalence of overall CP was 1.48 per 1000 live births. The likelihood of dyskinetic CP increases if the child was born to a mother aged ≥35 years, mechanically ventilated, and had predominant grey matter injury, while an increased likelihood of ataxic CP is associated with ≥2 previous deliveries. Children with dyskinetic and ataxic CP are more likely to function with impairments in motor, speech, and intellectual abilities. CONCLUSION: Distinctive risk indicators and differences in outcome between CP subtypes were identified. These factors can be incorporated into clinical practice to facilitate early, accurate, and reliable classification of CP subtype, and may lead to individually tailored neonatal care and other (early) intervention options.

3.
J Clin Med ; 12(12)2023 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-37373771

RESUMO

Few studies have examined the effect of intensive therapy on gross motor function and trunk control in children with cerebral palsy (CP). This study evaluated the effects of an intensive burst of therapy on the lower limbs and trunk by comparing qualitative functional and functional approaches. This study was designed as a quasi-randomized, controlled, and evaluator-blinded trial. Thirty-six children with bilateral spastic CP (mean age = 8 y 9 mo; Gross Motor Function Classification II and III) were randomized into functional (n = 12) and qualitative functional (n = 24) groups. The main outcome measures were the Gross Motor Function Measure (GMFM), the Quality Function Measure (QFM), and the Trunk Control Measurement Scale (TCMS). The results revealed significant time-by-approach interaction effects for all QFM attributes and the GMFM's standing dimension and total score. Post hoc tests showed immediate post-intervention gains with the qualitative functional approach for all QFM attributes, the GMFM's standing and walking/running/jumping dimension and total score, and the total TCMS score. The qualitative functional approach shows promising results with improvements in movement quality and gross motor function.

4.
Spine Deform ; 11(4): 927-932, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-37000346

RESUMO

PURPOSE: Although the functional outcome (e.g. the return to daily activities) plays an important role in the evaluation of treatment success for the paediatric patient, clinicians currently cannot make accurate and objective predictions regarding the very early (≤ 6 weeks) functional outcome and its recovery over time. The purpose of the present study is to objectively measure initial postoperative physical activity levels and examine the relationship with patient characteristics, fusion levels and pain. METHODS: Step count (SC) was obtained pre- (Pre-Op) and postoperatively (Post-3W: 3 weeks after surgery; Post-6W: 6 weeks after surgery) using an accelerometer. Patients were grouped based on LIV (thoracic (T-group) and lumbar (L-group)) and fusion length (FL ≤ 10 levels = SF-group and FL ≥ 11 levels = LF-group). Differences in the daily SC between groups (LIV and FL) and the three timepoints was investigated using a two-way ANOVA. RESULTS: The SC was significantly lower at both Post-3W (p < 0.001) and Post-6W (p < 0.001) compared to the preoperative SC, and significantly (p < 0.001) increased from Post-3W to Post-6W (Pre-Op = 13,049 ± 3214 steps/day; Post-3W = 6486 ± 2925 steps/day; Post-6W = 8723 ± 3020 steps/day). At both post-op timepoints the T-group had a higher SC compared to the L-group. CONCLUSION: A fusion surgery with the LIV at L2 or below has a negative impact on the very early postoperative activity levels. The initial functional outcome level of AIS patients was not related to the presently collected patient characteristics. This suggests that objective activity trackers provide novel information and could have an added value in very early rehabilitation programs.


Assuntos
Monitores de Aptidão Física , Recuperação de Função Fisiológica , Escoliose , Fusão Vertebral , Adolescente , Criança , Humanos , Cifose/cirurgia , Radiografia , Escoliose/cirurgia , Vértebras Torácicas/cirurgia
5.
J Pediatr Urol ; 18(4): 447.e1-447.e9, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35732572

RESUMO

INTRODUCTION: Urinary incontinence is the most frequently observed lower urinary tract symptom in children with cerebral palsy (CP). Being continent can positively influence quality of life of the child and the social environment. OBJECTIVE: To investigate the effectiveness of incontinence training with urotherapy in children with CP. STUDY DESIGN: A population-based case-control study was conducted including 21 children with CP and 24 typically developing children between 5 and 12 years old, both with daytime incontinence or combined daytime incontinence and enuresis. Children received treatment for one year with three-monthly examination by means of uroflowmetry, a structured questionnaire and bladder diaries. Children started with three months of standard urotherapy. After three, six and nine months of training, specific urotherapy interventions (pelvic floor muscle training with biofeedback, alarm treatment or neuromodulation) and/or pharmacotherapy could be added to the initial treatment. Therapy was individualized to probable underlying conditions. Effectiveness was controlled for spontaneous improvement due to maturation and analysed by means of longitudinal linear models, generalized estimating equations and multilevel cumulative odds models. Comparison with typically developing children was assessed by means of Kaplan-Meier survival analysis. RESULTS: Results suggest effectivity rate of incontinence training is lower and changes occur more slowly in time in children with CP compared to typically developing children (Figure). Within the group of children with CP, significant changes during one year of training were found for daytime incontinence (p < 0.001), frequency of daytime incontinence (p = 0.002), frequency of enuresis (p = 0.048), storage symptoms (p = 0.011), correct toilet posture (p = 0.034) and fecal incontinence (p = 0.026). DISCUSSION: Maximum voided volume and fluid intake at the start of training were significantly lower in children with CP and could explain a delayed effectiveness of urotherapy. Treatment of constipation demonstrated a positive effect on maximum voided volume and should be initiated together with standard urotherapy when constipation is still present after implementation of a correct fluid intake schedule. Future research with a larger sample size is recommended. CONCLUSIONS: Incontinence training with urotherapy can be an effective treatment for urinary incontinence in children with cerebral palsy. In the current cohort, effectivity rate of incontinence training was lower and changes occurred more slowly in children with cerebral palsy compared to typically developing children.


Assuntos
Paralisia Cerebral , Enurese Noturna , Incontinência Urinária , Criança , Humanos , Pré-Escolar , Paralisia Cerebral/complicações , Paralisia Cerebral/terapia , Estudos Prospectivos , Qualidade de Vida , Estudos de Casos e Controles , Incontinência Urinária/etiologia , Incontinência Urinária/terapia , Incontinência Urinária/diagnóstico , Constipação Intestinal
6.
Disabil Rehabil ; 44(20): 5990-5999, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-34365883

RESUMO

PURPOSE: Previous studies investigating the effectiveness of exergame balance-training (using video-games) in children with cerebral palsy (CP) yielded inconsistent results that could be related to underpowered studies. Therefore, in this multicenter intervention study, we investigated whether exergaming improves balance clinically in spastic CP. MATERIALS AND METHODS: In total, 35 children with unilateral or bilateral spastic CP (GMFCS-level I-II) were included (age-range: 7-16 years); 16 at VUMC (trial: NTR6034), 19 at UHG (trial: NCT03219112). All participants received care as usual. The intervention group (n = 24) additionally performed exergame-training; 6-8 weeks home-based X-box One Kinect training focused on balance. Balance performance was assessed with the pediatric balance scale (PBS) and two subscales of the Bruininks-Oseretsky Test of Motor Proficiency-2nd edition ("balance" [BOTbal] and "running speed and agility" [BOTrsa]). Mixed model ANOVAs with between and within factors were used to test differences between and within groups. RESULTS: On group level, no post-intervention differences were found between the intervention and control group (PBS: p = 0.248, ηp2 = 0.040; BOTbal: p = 0.374, ηp2 = 0.024; BOTrsa: p = 0.841, ηp2 = 0.001). Distribution of CP-symptoms (unilateral versus bilateral) did not affect training (PBS: p = 0.373, ηp2 = 0.036; BOTbal: p = 0.127, ηp2 = 0.103; BOTrsa: p = 0.474, ηp2 = 0.024). Children with low baseline balance performance (based on PBS) in the intervention group showed improvements in balance performance after training (PBS: p = 0.003, ηp2 = 0.304; BOTbal: p = 0.008, ηp2 = 0.258), whereas children with high baseline balance performance did not. CONCLUSIONS: This exergame-training resulted in balance improvements for the current population of CP that had a low baseline function.IMPLICATIONS FOR REHABILITATIONExergame-training (training using video-games) shows mixed results in children with cerebral palsy (CP).Children with spastic CP (GMFCS level I-II) with a high baseline balance-level did not show functional balance improvements after this home-based exergame-training, suggesting that these children should not be enrolled in this type of exergame-training protocol.Children with spastic CP (GMFCS level I-II) with a low baseline balance-level showed clinically relevant functional balance improvements after this home-based exergame-training, suggesting that these children can benefit from enrolment in this type of exergame-training protocol to improve their balance.The distribution of CP-symptoms did not affect the effectiveness of this balance exergame-training in children with spastic CP with GMFCS-level I and II.


Assuntos
Paralisia Cerebral , Jogos de Vídeo , Adolescente , Criança , Jogos Eletrônicos de Movimento , Humanos , Espasticidade Muscular
7.
Clin J Pain ; 37(11): 789-802, 2021 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-34419974

RESUMO

OBJECTIVE: This prospective study examined risk and resilience predictors of pain and functional recovery in the first 6 months after spinal fusion surgery in adolescents. METHODS: Adolescents with adolescent idiopathic scoliosis undergoing spinal fusion surgery (n=100, aged 12 to 18 y, 77% girls) completed assessments before surgery and at 3 weeks, 6 weeks, and 6 months after surgery. Recovery trajectories in pain, health-related quality of life (HRQOL), and objectively registered physical activity were identified. Presurgical pain catastrophizing and pain intensity (risk), and psychological flexibility, and postsurgical pain acceptance (resilience) were examined as predictors of recovery. RESULTS: Latent growth class analyses revealed 4 distinct pain recovery trajectories (ie, Severe-Moderate [11%, n=9], Mild-No [58%, n=49], Moderate-Mild [24%, n=20], and Moderate-Severe [7%, n=6] pain trajectory), 2 HRQOL recovery trajectories; 2 trajectories characterizing recovery in average daily physical activity at moderate-to-vigorous intensity (MVPA); and 3 trajectories characterizing recovery in total physical activity volume characterized by the average daily number of steps. Subsequent multivariate analyses of variance revealed that presurgical pain intensity (partial η2=0.21, P<0.001) and pain catastrophizing (partial η2=0.13, P<0.01) were both predictive of poorer recovery in HRQOL, and pain catastrophizing additionally predicted poorer pain recovery (partial η2=0.15, P<0.05). Psychological flexibility (partial η2=0.25, P<0.001) and postsurgical pain acceptance (partial η2=0.07, P<0.05) were predictive of more favorable recovery trajectories in HRQOL, and psychological flexibility additionally predicted more favorable recovery trajectories in postsurgical pain (partial η2=0.15, P<0.05). Daily MVPA trajectories were not significantly predicted by any of the hypothesized factors, while presurgical pain catastrophizing levels were predictive of a delayed recovery trajectory in the daily amount of steps (partial η2=0.17 P<0.01). CONCLUSIONS: Presurgical screening could include assessment of pain intensity, pain catastrophizing, psychological flexibility, and pain acceptance to identify adolescents who are at risk for poorer recovery. These are potentially modifiable factors that can be targeted in presurgical interventions to prevent poor and foster adaptive outcomes after major surgery in adolescents.


Assuntos
Qualidade de Vida , Fusão Vertebral , Adolescente , Feminino , Humanos , Masculino , Medição da Dor , Dor Pós-Operatória , Estudos Prospectivos
8.
J Orthop ; 24: 65-76, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33679030

RESUMO

BACKGROUND: Monteggia fracture-dislocation is a rare and often missed injury in the paediatric population. The neglected radial head dislocation might go unnoticed for several months, but usually becomes symptomatic at a certain point in time, posing a complex clinical problem. Management strategies for chronic Monteggia lesions have been proposed by many authors. A consensus therapy is nonetheless lacking. In recent years an increasing number of case series reporting the outcomes of various treatment options have been published to gain insight into this challenging pathology. The purpose of this review is to provide a general background on chronic, paediatric Monteggia fracture-dislocation, followed by a systematic analysis and discussion of various management strategies and their outcomes, described in recent outcome studies. METHODS: A literature search was conducted within the online databases PubMed, Cochrane Central, EMBASE and Google Scholar, to identify outcome studies on the management of chronic Monteggia lesions published between January 2015 and April 2020. A total of 23 outcome studies were identified and included in this study. RESULTS: Obtaining stable radial head reduction can be regarded as the main objective of any management strategy for chronic, paediatric Monteggia fracture-dislocation. In recent literature, many surgical techniques have been put forward to obtain this goal, with the mainstay of most treatment strategies being ulnar osteotomy and open reduction with or without reconstruction of the annular ligament. Watchful neglect is a strategy that got more or less abandoned and is challenged in recent literature. CONCLUSIONS: Due to the complexity of long-standing radial head dislocation and the unpredictability of outcomes in the treatment of chronic Monteggia lesions, early diagnosis and achieving a stable reduction, preferably in the acute setting, are paramount. Because of the tendency to obtain more satisfactory radiological and clinical results in younger patients, with a short injury-to-surgery interval, it is advisable to promptly proceed to surgical treatment when chronic Monteggia fracture-dislocation is diagnosed.

9.
Eur J Phys Rehabil Med ; 57(5): 738-746, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-33470579

RESUMO

BACKGROUND: Muscle weakness in children and adolescents with cerebral palsy (CP) can affect daily life activities, even more if functional capabilities are poor. Also, core stability plays an important role in distal force generation. AIM: The main purpose of this study was to investigate the reliability of functional tests of the lower limbs and the core stability in children and adolescents with bilateral spastic CP with Gross Motor Function Classification System (GMFCS) levels II and III. Secondary, associations within the functional tests and between the functional tests and gait capacity were analyzed. DESIGN: Cross-sectional study. SETTING: CP reference center at Ghent University Hospital, pediatric physiotherapists and schools for children and adolescents with motor impairments. POPULATION: Twenty-four children and adolescents with CP (11.4±2.5 yrs, GMFCS II/III:13/11) participated in this study. METHODS: Functional tests of the lower limbs (GMFCS II: sit-to-stand [STS], lateral step-up [LSU], bilateral heel rise [BHR], high jump [HJ], long jump [LJ]; GMFCS III: STS, LSU) and core stability (bridging and rolling like a ball [RLB]) were tested twice. On the second test occasion, gait capacity (1-minute walk test [1MWT] and modified timed up and go [mTUG]) were also assessed. RESULTS: Relative reliability of the functional tests ranged from good to excellent (Intraclass Correlation Coefficients (ICC), 0.88 - 0.96). Absolute reliability showed large variability with acceptable results for the BHR, HJ, LJ and RLB (Minimal Detectable Change % (MDC%) <40%). Strong associations were found of the RLB test and the mTUG with the BHR, HJ and LJ tests. CONCLUSIONS: The functional tests of the lower limbs and core stability were found reliable. To measure change over time, the BHR, the HJ and LJ can be used for children and adolescents with GMFCS level II. The RLB test can be used for both GMFCS levels. Associations between the BHR, HJ and LJ tests showed strong associations with the RLB test and with the mTUG. CLINICAL REHABILITATION IMPACT: The study highlighted the importance of developing functional tests for children and adolescents with lower motor function capacities and to integrate core stability tests in routine clinical assessments.


Assuntos
Paralisia Cerebral , Adolescente , Paralisia Cerebral/diagnóstico , Criança , Estudos Transversais , Marcha , Humanos , Extremidade Inferior , Reprodutibilidade dos Testes
10.
Disabil Rehabil Assist Technol ; 16(1): 27-39, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-31226898

RESUMO

PURPOSE: Ankle foot orthosis (AFO) stiffness is a key characteristic that determines how much support or restraint an AFO can provide. Thus, the goal of the current study is twofold: (1) to quantify AFO prescriptions for a group of patients; (2) to evaluate what impact these AFO have on the push-off phase. METHOD: Six patients were included in the study. Three patients were prescribed an AFO for ankle support and three patients were prescribed an AFO for ankle and knee support. Two types of AFO - a traditional polypropylene AFO (AFOPP) and a novel carbon-selective laser sintered polyamide AFO (AFOPA), were produced for each patient. AFO ankle stiffness was measured in a dedicated test rig. Gait analysis was performed under shod and orthotic conditions. RESULTS: Patient mass normalized AFOPP stiffness for ankle support ranged from 0.042 to 0.069 N·m·deg-1·kg-1, while for ankle and knee support it ranged from 0.081 to 0.127 N·m·deg-1·kg-1. On the group level, the ankle range of motion and mean ankle velocity in the push-off phase significantly decreased in both orthotic conditions, while peak ankle push-off power decreased non-significantly. Accordingly, on the group level, no significant improvements in walking speed were observed. However, after patient differentiation into good and bad responders it was found that in good responders peak ankle push-off power tended to be preserved and walking speed tended to increase. CONCLUSIONS: Quantification of AFO stiffness may help to understand why certain orthotic interventions are successful (unsuccessful) and ultimately lead to better AFO prescriptions. Implications for rehabilitation AFO ankle stiffness is key characteristic that determines how much support or restraint an AFO can provide. In a typical clinical setting, AFO ankle stiffness is not quantified. AFO has to meet individual patient's biomechanical needs. More objective AFO prescription and more controlled AFO production methods are needed to increase AFO success rate.


Assuntos
Pessoas com Deficiência/reabilitação , Desenho de Equipamento , Órtoses do Pé , Marcha/fisiologia , Adolescente , Adulto , Fenômenos Biomecânicos , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prescrições , Adulto Jovem
11.
Eur J Med Genet ; 63(11): 104009, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32758660

RESUMO

Interstitial 19q13.11 deletions are associated with ectrodactyly, which has recently been linked to loss-of-function of the UBA2 gene. We report a boy with a de novo frameshift mutation in UBA2 (c.612delA (p.(Glu205Lysfs*63)), presenting with ectrodactyly of the feet associated with learning difficulties and minor physical anomalies. We review genotype-phenotype correlations in patients with chromosomal 19q13.11 microdeletions compared to those with intragenic UBA2 mutations.


Assuntos
Anormalidades Múltiplas/genética , Transtornos Cromossômicos/genética , Deformidades Congênitas dos Membros/genética , Fenótipo , Enzimas Ativadoras de Ubiquitina/genética , Anormalidades Múltiplas/patologia , Pré-Escolar , Deleção Cromossômica , Transtornos Cromossômicos/patologia , Mutação da Fase de Leitura , Genótipo , Humanos , Deformidades Congênitas dos Membros/patologia , Masculino
12.
Acta Orthop Belg ; 86(3): 383-390, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-33581021

RESUMO

The purpose of this survey in Belgium and the Netherlands was to assess treatment variation in glenohumeral osteoarthritis between experienced and less experienced orthopedic surgeons, and to investigate perioperative treatment after shoulder arthroplasty in a large group of orthopedic surgeons. Orthopedic surgeons specialized in shoulder surgery were invited to complete a survey between November 2013 and February 2015. Seventy-one percent of the approached surgeons com-pleted the survey. Less experienced surgeons (< 6 years) and surgeons from the Netherlands find patient characteristics (e.g. smoking p=0.01) more relevant than more experienced surgeons (≥ 6 years) and surgeons from Belgium. Less experienced surgeons will less likely (p=0.001) perform resurfacing arthroplasty compare to experienced surgeons. The less and the experienced surgeons use similar indications for a reverse shoulder arthroplasty regarding age limit and cuff arthropathy without osteoarthritis. Less experienced surgeon will more likely (p=0.003) prescribe a low molecular weight heparin during the hospital stay after a shoulder arthroplasty. In this survey, we found a decrease in the use of resurfacing arthroplasty and a strong increase in the use of reverse shoulder arthroplasty. Besides, there is little consensus concerning pre-operative planning, patient characteristics, surgical technique, and patient reported outcome measures. Level of evidence: IV.


Assuntos
Ectromelia/diagnóstico por imagem , Ectromelia/cirurgia , Fíbula/diagnóstico por imagem , Fíbula/cirurgia , Imageamento Tridimensional , Procedimentos de Cirurgia Plástica/métodos , Cirurgia Assistida por Computador/métodos , Criança , Feminino , Humanos , Tomografia Computadorizada por Raios X
13.
Genet Med ; 22(1): 124-131, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31316167

RESUMO

PURPOSE: Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder manifesting joint contractures, arachnodactyly, crumpled ears, and kyphoscoliosis as main features. Due to its rarity, rather aspecific clinical presentation, and overlap with other conditions including Marfan syndrome, the diagnosis is challenging, but important for prognosis and clinical management. CCA is caused by pathogenic variants in FBN2, encoding fibrillin-2, but locus heterogeneity has been suggested. We designed a clinical scoring system and diagnostic criteria to support the diagnostic process and guide molecular genetic testing. METHODS: In this retrospective study, we assessed 167 probands referred for FBN2 analysis and classified them into a FBN2-positive (n = 44) and FBN2-negative group (n = 123) following molecular analysis. We developed a 20-point weighted clinical scoring system based on the prevalence of ten main clinical characteristics of CCA in both groups. RESULTS: The total score was significantly different between the groups (P < 0.001) and was indicative for classifying patients into unlikely CCA (total score <7) and likely CCA (total score ≥7) groups. CONCLUSIONS: Our clinical score is helpful for clinical guidance for patients suspected to have CCA, and provides a quantitative tool for phenotyping in research settings.


Assuntos
Aracnodactilia/diagnóstico , Contratura/diagnóstico , Fibrilina-2/genética , Análise de Sequência de DNA/métodos , Aracnodactilia/genética , Criança , Contratura/genética , Diagnóstico Diferencial , Diagnóstico Precoce , Feminino , Testes Genéticos , Humanos , Masculino , Síndrome de Marfan/diagnóstico , Síndrome de Marfan/genética , Fenótipo , Estudos Retrospectivos , Sensibilidade e Especificidade
14.
Am J Med Genet A ; 179(12): 2494-2499, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31595668

RESUMO

Myhre syndrome is a rare multisystem connective tissue disorder, characterized by short stature, facial dysmorphology, variable intellectual disability, skeletal abnormalities, arthropathy, cardiopathy, laryngotracheal anomalies, and stiff skin. So far, all molecularly confirmed cases harbored a de novo heterozygous gain-of-function mutation in SMAD4, encoding the SMAD4 transducer protein required for both transforming growth factor-beta and bone morphogenic proteins signaling. We report on four novel patients (one female proband and her two affected children, and one male proband) with Myhre syndrome harboring the recurrent c.1486C>T (p.Arg496Cys) mutation in SMAD4. The female proband presented with a congenital heart defect, vertebral anomalies, and facial dysmorphic features. She developed severe tracheal stenosis requiring a total laryngectomy. With assisted reproductive treatment, she gave birth to two affected children. The second proband presented with visual impairment following lensectomy in childhood, short stature, brachydactyly, stiff skin, and decreased peripheral sensitivity. Transmission electron microscopy (TEM) of the dermis shows irregular elastin cores with globular deposits and almost absent surrounding microfibrils and suggests age-related increased collagen deposition. We report on the first familial case of Myhre syndrome and illustrate the variable clinical spectrum of the disorder. Despite the primarily fibrotic nature of the disease, TEM analysis mainly indicates elastic fiber anomalies.


Assuntos
Criptorquidismo/diagnóstico , Transtornos do Crescimento/diagnóstico , Deformidades Congênitas da Mão/diagnóstico , Deficiência Intelectual/diagnóstico , Fenótipo , Adulto , Alelos , Substituição de Aminoácidos , Biópsia , Criptorquidismo/genética , Fácies , Feminino , Genótipo , Transtornos do Crescimento/genética , Deformidades Congênitas da Mão/genética , Humanos , Deficiência Intelectual/genética , Masculino , Pessoa de Meia-Idade , Mutação , Radiografia , Recidiva , Pele/metabolismo , Pele/patologia , Proteína Smad4
15.
Genes (Basel) ; 10(7)2019 07 12.
Artigo em Inglês | MEDLINE | ID: mdl-31336972

RESUMO

Occipital horn syndrome (OHS) is a rare connective tissue disorder caused by pathogenic variants in ATP7A, encoding a copper transporter. The main clinical features, including cutis laxa, bony exostoses, and bladder diverticula are attributed to a decreased activity of lysyl oxidase (LOX), a cupro-enzyme involved in collagen crosslinking. The absence of large case series and natural history studies precludes efficient diagnosis and management of OHS patients. This study describes the clinical and molecular characteristics of two new patients and 32 patients previously reported in the literature. We report on the need for long-term specialized care and follow-up, in which MR angiography, echocardiography and spirometry should be incorporated into standard follow-up guidelines for OHS patients, next to neurodevelopmental, orthopedic and urological follow-up. Furthermore, we report on ultrastructural abnormalities including increased collagen diameter, mild elastic fiber abnormalities and multiple autophagolysosomes reflecting the role of lysyl oxidase and defective ATP7A trafficking as pathomechanisms of OHS.


Assuntos
Cútis Laxa/patologia , Síndrome de Ehlers-Danlos/patologia , Adolescente , Adulto , Criança , Pré-Escolar , Colágeno/metabolismo , ATPases Transportadoras de Cobre/genética , Cútis Laxa/enzimologia , Cútis Laxa/genética , Divertículo/patologia , Síndrome de Ehlers-Danlos/enzimologia , Síndrome de Ehlers-Danlos/genética , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Proteína-Lisina 6-Oxidase/metabolismo , Bexiga Urinária/anormalidades , Bexiga Urinária/patologia , Adulto Jovem
16.
Eur Spine J ; 27(2): 448-457, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-28578458

RESUMO

PURPOSE: To investigate coronal plane trunk asymmetry (TA) and its association with sagittal postural alignment in healthy subjects before pubertal peak growth. METHODS: In this cross-sectional baseline study, 1190 healthy pre-peak growth velocity subjects were included. Coronal plane TA was evaluated using back surface topography. Whole-body sagittal alignment (previously validated and objectively classified as neutral, sway-back or leaning-forward) and sagittal spinopelvic profile (trunk lean, lumbar lordosis, thoracic kyphosis, sacral inclination and length of the posteriorly inclined thoracolumbar segment) were determined, as were height, proportion of trunk to body length, body mass index, generalized joint laxity, and handedness. RESULTS: Logistic regression analysis yielded overall sagittal posture class to be independently associated with coronal plane TA: having a leaning-forward posture associated with a nearly three times higher odds of coronal TA (p < 0.001) compared to neutrals. A sway-back was 2.2 times more likely to show TA (p = 0.016) than a neutral, yet only in boys. Significant associations with coronal TA were also found for trunk lean, thoracic kyphosis and body mass index. These correlations, however, were gender and posture class specific. The spinal region where asymmetry is seen, varies according to the whole-body sagittal alignment type: primary thoracic curves were the most frequent in leaning-forwards, whereas primary curves in the lumbar or declive thoracolumbar segment were the most common in sway-backs. CONCLUSIONS: In immature spines without known scoliosis, coronal plane TA is associated with whole-body sagittal alignment. It is more often seen in non-neutral than neutral sagittal posture types. Whether adolescent idiopathic scoliosis is related with postural characteristics before pubertal growth peak, should be addressed in future prospective studies.


Assuntos
Coluna Vertebral/anatomia & histologia , Tronco/anatomia & histologia , Adolescente , Estatura/fisiologia , Criança , Estudos Transversais , Feminino , Humanos , Cifose/diagnóstico por imagem , Cifose/patologia , Lordose/diagnóstico por imagem , Lordose/patologia , Vértebras Lombares/anatomia & histologia , Vértebras Lombares/diagnóstico por imagem , Masculino , Equilíbrio Postural/fisiologia , Postura/fisiologia , Estudos Prospectivos , Radiografia , Sacro/anatomia & histologia , Sacro/diagnóstico por imagem , Escoliose/diagnóstico por imagem , Escoliose/patologia , Coluna Vertebral/diagnóstico por imagem
17.
J Urol ; 198(4): 937-943, 2017 10.
Artigo em Inglês | MEDLINE | ID: mdl-28533005

RESUMO

PURPOSE: We identify risk factors for daytime or combined urinary incontinence in children with cerebral palsy. MATERIALS AND METHODS: A cross-sectional case-control study was conducted including children with cerebral palsy with or without daytime or combined urinary incontinence from the CP-Reference Center at Ghent University Hospital and 2 associated special education schools. Factors were subdivided in 3 clusters of demographic and general medical data, cerebral palsy classification, and bladder and bowel dysfunction. Data were obtained using uroflowmetry with electromyography testing, a nonvalidated questionnaire and bladder diaries. Univariate and multivariate analyses were performed for variables and clusters, respectively. A final associative logistic model including all clusters was developed. RESULTS: The study included 34 incontinent children and 45 continent children. Daytime or combined urinary incontinence was associated with intellectual disability (OR 7.69), swallowing problems (OR 15.11), use of external aids (OR 27.50) and use of laxatives (OR 13.31). Daytime or combined urinary incontinence was positively associated with dyskinesia (OR 5.67) or combined spasticity and dystonia (OR 4.78), bilateral involvement (OR 4.25), Gross Motor Function Classification System level IV (OR 10.63) and V (OR 34.00), and severe impairment in manual (OR 24.27) or communication skills (OR 14.38). Lower maximum voided volume (OR 0.97) and oral fluid intake (OR 0.96) influenced daytime or combined urinary incontinence negatively. Pathological uroflow curves were not significantly associated with incontinence. The final model defined functional impairment, intellectual disability and oral fluid intake as predictive factors for daytime or combined urinary incontinence. CONCLUSIONS: Risk analysis revealed functional impairment, intellectual disability and fluid intake as important factors influencing continence in a child with cerebral palsy.


Assuntos
Paralisia Cerebral/complicações , Enurese/diagnóstico , Deficiência Intelectual/epidemiologia , Modelos Biológicos , Incontinência Urinária/diagnóstico , Estudos de Casos e Controles , Criança , Estudos Transversais , Comportamento de Ingestão de Líquido/fisiologia , Eletromiografia , Enurese/etiologia , Enurese/fisiopatologia , Feminino , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/fisiopatologia , Modelos Logísticos , Masculino , Prognóstico , Reologia , Fatores de Risco , Inquéritos e Questionários , Bexiga Urinária/fisiopatologia , Incontinência Urinária/etiologia , Incontinência Urinária/fisiopatologia , Urodinâmica/fisiologia
18.
Neurourol Urodyn ; 36(3): 541-549, 2017 03.
Artigo em Inglês | MEDLINE | ID: mdl-26894322

RESUMO

AIMS: To systematically review the scientific literature addressing lower urinary tract symptoms (LUTS) and urodynamic findings in adults and children with Cerebral Palsy (CP). Prognostic factors were also investigated. METHODS: A systematic research was conducted on the electronic databases PubMed, Web of Science, and CINAHL. Only full text clinical trials which examined the prevalence of LUTS or urodynamic findings in children or adults with CP were eligible. LUTS and urodynamic findings, defined by the International Children's Continence Society, were extracted from the included studies. Pooled average of extracted data was calculated. Studies were scored on methodological and reporting quality using the Dutch Cochrane Checklist, EBRO guidelines, and the Strengthening the Reporting of Observational Studies in Epidemiology Statement (STROBE) checklist. RESULTS: Twenty-seven studies fulfilled selection criteria. Methodological and reporting quality were moderate to low. An average of 55.5% of subjects with CP experience one or more LUTS. Storage symptoms are more common than voiding symptoms due to the high prevalence of neurogenic detrusor overactivity. Patients with voiding symptoms and pelvic floor overactivity are more prone to progress to upper urinary tract dysfunction in adult life. Urodynamic evaluation can direct management. Negative prognostic factors are the spastic subtype with quadriplegic distribution, moderate to severe functional impairment (GMFCS III or higher) and severe cognitive impairment. CONCLUSION: The significant prevalence of LUTS, risk for deterioration, and the impact of urinary tract symptoms on quality of life and health status warrants the need for evaluation and treatment in further research. Neurourol. Urodynam. 36:541-549, 2017. © 2016 Wiley Periodicals, Inc.


Assuntos
Paralisia Cerebral/epidemiologia , Sintomas do Trato Urinário Inferior/epidemiologia , Micção/fisiologia , Urodinâmica/fisiologia , Adulto , Paralisia Cerebral/fisiopatologia , Criança , Comorbidade , Humanos , Sintomas do Trato Urinário Inferior/fisiopatologia , Prevalência , Prognóstico , Qualidade de Vida
19.
Dev Med Child Neurol ; 53(3): 245-9, 2011 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-21087237

RESUMO

AIM: Energy cost of walking (ECOW) is defined as 'walking oxygen consumption minus resting oxygen consumption divided by speed', where 'resting' data can be obtained either at the start or cessation of a test. This study aimed to ascertain when resting data should be taken during an ECOW test in children with cerebral palsy (CP). METHOD: Resting oxygen consumption per unit mass (VO(2) ) and heart rate were recorded in children without physical impairment (18 males, 13 females; mean age 11 y [SD 2 y 1 mo]) and children with diplegic CP (18 males, 13 females; mean age 11 y [SD 2 y 6 mo, Gross Motor Function Classification System levels I and II]) at three stages, namely pre- and posttest sitting and pretest standing before and after an 8-minute ECOW test using the Cosmed K4b. RESULTS: Heart rate and VO(2) differed significantly between groups and stages (p ≤ 0.05) except for heart rate in standing and posttest sitting in the unimpaired children and for VO(2) during pretest sitting between groups. These differences impacted on the calculation of non-dimensional net oxygen cost (NDNOC) and physiological cost index (PCI) in CP but not in the unimpaired group. PCI was correlated with NDNOC in CP but not in the unimpaired cohort. INTERPRETATION: Pretest sitting resting data appear to be the most appropriate for use in the calculation of NDNOC and PCI. PCI may still have relevance in pathology where walking efficiency is compromised.


Assuntos
Paralisia Cerebral/metabolismo , Metabolismo Energético , Frequência Cardíaca , Consumo de Oxigênio , Descanso , Caminhada , Adolescente , Paralisia Cerebral/fisiopatologia , Criança , Feminino , Humanos , Masculino , Projetos de Pesquisa
20.
Gait Posture ; 31(4): 537-9, 2010 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-20338764

RESUMO

Measurement of VO(2) based 'energy cost of walking' indices provide quantitative information that can be used clinically to ascertain progress and relative functional impairment in pathology. The accuracy and validity of these indices relies on being able to identify periods of steady state conditions, since it is only in steady state that there is a direct and predictable relationship between VO(2) consumption and energy expenditure. This paper presents a comparison of two new mathematically based approaches that have recently gained recognition as methods for identifying steady state during an energy cost assessment. The first applies a mathematically defined threshold for steady state within a (non-treadmill) walking trial. This method is compared with a statistically based approach that relies on the calculation of the correlation coefficient, Kendall's Tau to define steady state data. To examine the impact of both methods on the calculation of the energy cost of walking, each was applied to the calculation of two oxygen based energy cost of walking parameters, the non-dimensional net oxygen cost and the net oxygen cost with speed normalised to height in a cohort of unimpaired subjects and children with cerebral palsy. The results revealed that overall there were no clinically significant differences between the two methods. It is suggested that the methods can be used interchangeably to calculate the energy cost of walking.


Assuntos
Paralisia Cerebral/fisiopatologia , Metabolismo Energético/fisiologia , Modelos Biológicos , Consumo de Oxigênio/fisiologia , Caminhada/fisiologia , Criança , Humanos
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