Perthes-Like Disease Masquerading Non-Classical MPS

Abstract Mucopolysaccharidoses (MPS) are inborn errors of metabolism caused by deficient lysosomal enzymes, leading to organomegaly, hip osteonecrosis, coarse facial features, bone deformities, joint stiffness, cardiac and pulmonary symptoms (MPS VI) or hypermobility (MPS IVA). Some patients may present with non-classical forms of the disease in which osteoarticular abnormalities are the initial symptoms of non-classical forms. As orthopedists and surgeons are the specialists most frequently consulted before the diagnosis, it is critical that MPS may be considered as a differential diagnosis for patients with bone dysplasia. Experts in Latin America reviewed medical records focusing on disease onset, first symptoms and the follow-up clinical and surgical outcomes of non-classical MPS VI and IVA patients. All patients displayed orthopedic issues, which worsened over time, followed by cardiac and ophthalmological abnormalities. Our findings enlighten the necessity of including non-classical MPS as possible diagnosis for patients who report osteoarticular abnormalities in absence of inflammation.

Clusters of daily functioning and classification levels: agreement of information in children with cerebral palsy.

PURPOSE: To analyze the agreement between gross motor and hand function levels and clusters of functional performance in children with cerebral palsy (CP). METHOD: The sample consisted of 129 children with CP aged 4 to 13~years. Children's gross motor and hand function were classified with the gross motor classification system (GMFCS) and manual ability classification system (MACS). Their daily functioning on self-care and mobility was assessed with the Pediatric Evaluation of Disability Inventory (PEDI). Cluster analyses grouped children with similar repertoires on self-care and mobility skills using the agglomerative hierarchical technique. The associations across self-care and mobility clusters with daily living skills were tested with Chi-Square tests. The level of agreement was quantified with the Kappa coefficient. RESULTS: Four groupings of children's functional skills in self-care (R2 = 0.92) and mobility (R2 = 0.95) were identified. These groupings were associated with hand function (χ2 = 145.43; p< 0.001) and mobility levels (χ2 = 198.13; p < 0.001), respectively. The agreement between MACS and self-care skills was 61.7% (Kappa=0.47; p< 0.001) and between GMFCS and mobility skills was 64.4% (Kappa=0.54; p< 0.001). CONCLUSION: The findings support the adequacy of functional classifications and functioning repertoires. The magnitude of agreement reinforces the importance of the concomitant use of functional classification and assessments.

Perfil de crianças com deficiência atendidas na Associação Mineira de Reabilitação: características sociodemográficas, clínicas e funcionais / Profile of disabled children assisted at Associação Mineira de Reabilitação: sociodemographic, clinical and functional characteristics

O número crescente de crianças com deficiência atendidas em centros de reabilitação gera a necessidade de informações sobre essa clientela, de forma a direcionar ações e intervenções terapêuticas. O objetivo do presente estudo foi caracterizar o perfil de crianças assistidas na Associação Mineira de Reabilitação (AMR), quanto a características sociodemográficas, clínicas e funcionais. Foram analisados prontuários das 384 crianças atendidas na AMR. As informações sociodemográficas das crianças e suas famílias incluíram sexo e idade da criança, idade de admissão na AMR, moradia, renda familiar, benefícios, estado civil da mãe, escolaridade dos pais, inserção da criança na escola, encaminhamento à instituição, tipo de atendimento. As características clínicas foram obtidas por meio do diagnóstico clínico, e as características funcionais, pelo Inventário de Avaliação Pediátrica de Incapacidade (PEDI) e pelo Sistema de Classificação da Função Motora Grossa (GMFCS). Os dados foram analisados com a estatística de ANOVA. Resultados revelaram que a maioria das crianças foi encaminhada para a instituição até os 2 anos de idade, provenientes de famílias de baixa renda e de baixa escolaridade, e possuía diagnóstico de paralisia cerebral com grave comprometimento motor. As crianças com condições de saúde de origem medular (mielomeningocele) e neuromuscular (paralisia braquial obstétrica) apresentaram escores de funcionalidade superiores quando comparadas às crianças com paralisia cerebral e às crianças com síndromes genéticas. Tais informações podem nortear profissionais de reabilitação para proverem ações de intervenção adequadas, considerando as características específicas das crianças e das famílias atendidas.(AU)

The increasing number of children with disabilities in rehabilitation centers leads to the need of information regarding this population, in order to guide therapeutic actions and interventions. The purpose of the study was to describe the profile of children assisted at Associação Mineira de Reabilitação (AMR), regarding to sociodemographic, clinical and functional characteristics. Information from 384 clinical charts of children assisted was analyzed. The sociodemographic information of children and their families included children’s gender and age, age of admission at AMR, place of living, family financial outcome, benefits, mothers’ marital status, parents’ educational level, participation at school, referral at AMR, type of service received. Clinical characteristics were obtained considering the clinical diagnosis and the functional information through the Pediatric Evaluation of Disability Inventory (PEDI) and the Gross Motor Function Classification System (GMFCS). Data were analyzed with ANOVA. Results show that most of children were referred to AMR before they were 2 years old. They were from families with low socioeconomic and educational levels, and most of them had the diagnosis of cerebral palsy, with severe level of motor impairments. Children with spinal cord (myelomeningocele) and neuromuscular (obstetric brachial palsy) conditions presented superior functional scores compared to children with cerebral palsy and genetic syndromes. Such information can guide rehabilitation professionals to provide adequate rehabilitation services, considering the specificities of these children and families.(AU)

Perfil de crianças com deficiência atendidas na Associação Mineira de Reabilitação: características sociodemográficas, clínicas e funcionais / Profile of disabled children assisted at Associação Mineira de Reabilitação: sociodemographic, clinical and functional characteristics

O número crescente de crianças com deficiência atendidas em centros de reabilitação gera a necessidade de informações sobre essa clientela, de forma a direcionar ações e intervenções terapêuticas. O objetivo do presente estudo foi caracterizar o perfil de crianças assistidas na Associação Mineira de Reabilitação (AMR), quanto a características sociodemográficas, clínicas e funcionais. Foram analisados prontuários das 384 crianças atendidas na AMR. As informações sociodemográficas das crianças e suas famílias incluíram sexo e idade da criança, idade de admissão na AMR, moradia, renda familiar, benefícios, estado civil da mãe, escolaridade dos pais, inserção da criança na escola, encaminhamento à instituição, tipo de atendimento. As características clínicas foram obtidas por meio do diagnóstico clínico, e as características funcionais, pelo Inventário de Avaliação Pediátrica de Incapacidade (PEDI) e pelo Sistema de Classificação da Função Motora Grossa (GMFCS). Os dados foram analisados com a estatística de ANOVA. Resultados revelaram que a maioria das crianças foi encaminhada para a instituição até os 2 anos de idade, provenientes de famílias de baixa renda e de baixa escolaridade, e possuía diagnóstico de paralisia cerebral com grave comprometimento motor. As crianças com condições de saúde de origem medular (mielomeningocele) e neuromuscular (paralisia braquial obstétrica) apresentaram escores de funcionalidade superiores quando comparadas às crianças com paralisia cerebral e às crianças com síndromes genéticas. Tais informações podem nortear profissionais de reabilitação para proverem ações de intervenção adequadas, considerando as características específicas das crianças e das famílias atendidas.

The increasing number of children with disabilities in rehabilitation centers leads to the need of information regarding this population, in order to guide therapeutic actions and interventions. The purpose of the study was to describe the profile of children assisted at Associação Mineira de Reabilitação (AMR), regarding to sociodemographic, clinical and functional characteristics. Information from 384 clinical charts of children assisted was analyzed. The sociodemographic information of children and their families included children’s gender and age, age of admission at AMR, place of living, family financial outcome, benefits, mothers’ marital status, parents’ educational level, participation at school, referral at AMR, type of service received. Clinical characteristics were obtained considering the clinical diagnosis and the functional information through the Pediatric Evaluation of Disability Inventory (PEDI) and the Gross Motor Function Classification System (GMFCS). Data were analyzed with ANOVA. Results show that most of children were referred to AMR before they were 2 years old. They were from families with low socioeconomic and educational levels, and most of them had the diagnosis of cerebral palsy, with severe level of motor impairments. Children with spinal cord (myelomeningocele) and neuromuscular (obstetric brachial palsy) conditions presented superior functional scores compared to children with cerebral palsy and genetic syndromes. Such information can guide rehabilitation professionals to provide adequate rehabilitation services, considering the specificities of these children and families.