Assessment of musculoskeletal abnormalities in children with mucopolysaccharidoses using pGALS.

BACKGROUND: Children with mucopolysaccharidoses (MPS) often have musculoskeletal (MSK) abnormalities. Paediatric Gait, Arms, Legs, and Spine (pGALS), is a simple MSK assessment validated in school-age children to detect abnormal joints. We aimed to identify MSK abnormalities in children with MPS performing pGALS. METHODS: Videos of children with a spectrum of MPS performing pGALS were analysed. A piloted proforma to record abnormalities for each pGALS manoeuvre observed in the videos (scored as normal/abnormal/not assessable) was used by three observers blinded to MPS subtype. Videos were scored independently and rescored for intra- and inter-observer consistency. Data were pooled and analysed. RESULTS: Eighteen videos of children [12 boys, 6 girls, median age 11 years (4-19)] with MPS (13 type I [5 Hurler, 8 attenuated type I]; 4 type II; 1 mannosidosis) were assessed. The most common abnormalities detected using pGALS were restrictions of the shoulder, elbow, wrist, jaw (>75% cases), and fingers (2/3 cases). Mean intra-observer Κ 0.74 (range 0.65-0.88) and inter-observer Κ 0.62 (range 0.51-0.77). Hip manoeuvres were not clearly demonstrated in the videos. CONCLUSIONS: In this observational study, pGALS identifies MSK abnormalities in children with MPS. Restricted joint movement (especially upper limb) was a consistent finding. Future work includes pGALS assessment of the hip and testing pGALS in further children with attenuated MPS type I. The use of pGALS and awareness of patterns of joint involvement may be a useful adjunct to facilitate earlier recognition of these rare conditions and ultimately access to specialist care.

Incidence of bilateral discoid lateral meniscus in an Asian population: an arthroscopic assessment of contralateral knees.

PURPOSE: To investigate the incidence of bilateral discoid lateral meniscus (DLM) and to evaluate the arthroscopic features of lateral meniscus in asymptomatic contralateral knees in an Asian population who presented with symptomatic DLMs. METHODS: This study prospectively enrolled 52 consecutive patients who underwent arthroscopic procedures for symptomatic DLMs (31 complete and 21 incomplete) and who consented to the examination of the contralateral knee at the time of arthroscopy. Types of DLMs and of meniscus tears were assessed by use of arthroscopic findings. Preoperative and postoperative functional outcomes were evaluated with Lysholm and Tegner activity scores. RESULTS: Arthroscopic examinations showed 21 complete DLMs, 19 incomplete DLMs, 11 normal lateral menisci, and 1 ring-shaped lateral meniscus in contralateral knees. The incidence of bilateral DLM in our study population was 79% (41 of 52 contralateral knees). Furthermore, 65% of patients (34 pairs of knees) had the same DLM types. In addition, 3 pairs of knees with complete DLMs had menisci of different thicknesses. DLM tears were observed in 2 contralateral knees (1 radial and 1 longitudinal) and were treated by partial central meniscectomy. CONCLUSIONS: This study provides evidence of the high prevalence of bilateral DLM in an Asian population.

Anthropometric and musculoskeletal assessment of patients with Marfan syndrome.

BACKGROUND: Marfan syndrome (MS) is an autosomic dominant condition of the connective tissue that involves the ocular, cardiovascular and musculoskeletal systems. MS is caused by mutations in the fibrillin-1 gene, leading to joint ligaments flaccidity, joint hypermobility and an overgrowth of the long bones. OBJECTIVES: The aim of the present study was to assess anthropometry, musculoskeletal alterations and the prevalence of physical therapy treatments among patients with MS. METHODS: Twenty-six patients were included in this study [17 females (age: 13.23±2.77 years; body mass 51.5±24-68 Kg; height 1.70±1.40-1.81 m; arm span: 1.73±0.12 m) and 9 males (age: 14.44±2.18; body mass: 61.0±42-72 Kg; height: 1.83±1.66-1.97 m; arm span: 1.93±0.13 m)]. Anthropometric measurements and musculoskeletal abnormalities were determined in a standardized fashion: pectus and scoliosis were assessed through radiography and angulation (â) of the scoliosis curve using the Cobb method; arachnodactyly was assessed through the thumb sign and Walker-Murdoch test and dolichostenomelia was assessed by arm span in relation to height. Patients also responded to a questionnaire addressing participation in physical therapy. RESULTS: In comparison to values estimated for the Brazilian population, mass and height were greater among the patients with MS (females: p=0.001 e p<0.0005 e males p=0.019 e p=0.0001, respectively). The following musculoskeletal abnormalities were found: pectus in 3 patients (11%), pectus and scoliosis in 19 (73%), dolichostenomelia in 11 (42%) and arachnodactyly in 21 (80%). Eleven patients (42%) with MS had previously undergone physical therapy. CONCLUSIONS: Patients with MS exhibit altered musculoskeleto and anthropometry and have infrequent physical therapy treatment.

Avaliação antropométrica e musculoesquelética de pacientes com síndrome de Marfan / Anthropometric and musculoskeletal assessment of patients with Marfan syndrome

CONTEXTUALIZAÇÃO: A Síndrome de Marfan (SM) é uma doença autossômica dominante do tecido conjuntivo que envolve os sistemas ocular, cardiovascular e musculoesquelético, causada por mutações no gene da fibrilina1, gerando flacidez nos ligamentos articulares, favorecendo a hipermobilidade articular e redução na contenção do crescimento ósseo. OBJETIVOS: Avaliar as medidas antropométricas, alterações musculoesqueléticas e a frequência do tratamento fisioterapêutico nos pacientes com SM. MÉTODOS: Participaram deste estudo 26 pacientes, sendo 17 do gênero feminino, com idade de 13,23±2,77 anos, massa corpórea de 51,5±24-68 Kg, altura de 1,70±1,40-1,81 m e envergadura de 1,73±0,12 cm, e nove do gênero masculino, com idade de 14,44±2,18, massa corpórea de 61,0±42-72 Kg, altura de 1,83±1,66-1,97 m e envergadura de 1,93±0,13. Foram obtidas medidas antropométricas, alterações ME de forma padronizada, sendo o pectus e a escoliose, por avaliação radiológica, e a angulação (â) da curva escoliótica, pelo método de Cobb; a aracnodactilia, pelo sinal do polegar e teste de Walker-Murdoch, e a dolicostenomelia, pela envergadura em relação à altura. Os pacientes responderam a um questionário quanto à participação em tratamento de fisioterapia. RESULTADOS: Quando comparados com a estimativa brasileira, a massa corpórea e a altura apresentaram valores maiores no gênero feminino (p=0,001 e p<0,0005) e masculino (p=0,019 e p=0,0001). Das alterações musculoesqueléticas, encontrou-se pectus em 3 (11 por cento), pectus e escoliose em 19 (73 por cento), dolicostenomelia em 11 (42 por cento) e aracnodactilia em 21(80 por cento). Onze (42 por cento) pacientes com SM já haviam realizado tratamento de fisioterapia. CONCLUSÕES: As alterações antropométricas e musculoesqueléticas estão presentes na SM, e o tratamento fisioterapêutico é pouco frequente.

BACKGROUND: Marfan syndrome (MS) is an autosomic dominant condition of the connective tissue that involves the ocular, cardiovascular and musculoskeletal systems. MS is caused by mutations in the fibrillin-1 gene, leading to joint ligaments flaccidity, joint hypermobility and an overgrowth of the long bones. OBJECTIVES: The aim of the present study was to assess anthropometry, musculoskeletal alterations and the prevalence of physical therapy treatments among patients with MS. METHODS: Twenty-six patients were included in this study [17 females (age: 13.23±2.77 years; body mass 51.5±24-68 Kg; height 1.70±1.40-1.81 m; arm span: 1.73±0.12 m) and 9 males (age: 14.44±2.18; body mass: 61.0±42-72 Kg; height: 1.83±1.66-1.97 m; arm span: 1.93±0.13 m)]. Anthropometric measurements and musculoskeletal abnormalities were determined in a standardized fashion: pectus and scoliosis were assessed through radiography and angulation (â) of the scoliosis curve using the Cobb method; arachnodactyly was assessed through the thumb sign and Walker-Murdoch test and dolichostenomelia was assessed by arm span in relation to height. Patients also responded to a questionnaire addressing participation in physical therapy. RESULTS: In comparison to values estimated for the Brazilian population, mass and height were greater among the patients with MS (females: p=0.001 e p<0.0005 e males p=0.019 e p=0.0001, respectively). The following musculoskeletal abnormalities were found: pectus in 3 patients (11 percent), pectus and scoliosis in 19 (73 percent), dolichostenomelia in 11 (42 percent) and arachnodactyly in 21 (80 percent). Eleven patients (42 percent) with MS had previously undergone physical therapy. CONCLUSIONS: Patients with MS exhibit altered musculoskeleto and anthropometry and have infrequent physical therapy treatment.

Preoperative assessment of chest wall deformities.

Anterior chest wall anomalies vary by age at presentation, signs, and symptoms as well as evaluation and subsequent surgical treatment. The most common abnormalities include pectus excavatum, pectus carinatum, and Poland syndrome.