Manual Ability Classification System (MACS): reliability between therapists and parents in Brazil.

BACKGROUND: The Manual Ability Classification System (MACS) has been widely used to describe the manual ability of children with cerebral palsy (CP); however its reliability has not been verified in Brazil. OBJECTIVE: To establish the inter- and intra-rater reliability of the Portuguese-Brazil version of the MACS by comparing the classifications given by therapists and parents of children with CP. METHOD: Data were obtained from 90 children with CP between the ages of 4 and 18 years, who were treated at the neurology and rehabilitation clinics of a Brazilian hospital. Therapists (an occupational therapist and a student) classified manual ability (MACS) through direct observation and information provided by parents. Therapists and parents used the Portuguese-Brazil version of the MACS. Intra- and inter-rater reliability was obtained using unweighted Kappa coefficient (k) and intra-class correlation coefficient (ICC). The Chi-square test was used to identify the predominance of disagreements in the classification of parents and therapists. RESULTS: An almost perfect agreement resulted among therapists [K=0.90 (95% CI 0.83-0.97); ICC=0.97 (95%CI 0.96-0.98)], as well as with intra-rater (therapists), with Kappa ranging between 0.83 and 0.95 and ICC between 0.96 and 0.99 for the evaluator with more and less experience in rehabilitation, respectively. The agreement between therapists and parents was fair [K=0.36 (95% CI 0.22-0.50); ICC=0.79 (95% CI 0.70-0.86)]. CONCLUSIONS: The Portuguese version of the MACS is a reliable instrument to be used jointly by parents and therapists.

Manual Ability Classification System (MACS): reliability between therapists and parents in Brazil

BACKGROUND: The Manual Ability Classification System (MACS) has been widely used to describe the manual ability of children with cerebral palsy (CP); however its reliability has not been verified in Brazil. OBJECTIVE: To establish the inter- and intra-rater reliability of the Portuguese-Brazil version of the MACS by comparing the classifications given by therapists and parents of children with CP. METHOD: Data were obtained from 90 children with CP between the ages of 4 and 18 years, who were treated at the neurology and rehabilitation clinics of a Brazilian hospital. Therapists (an occupational therapist and a student) classified manual ability (MACS) through direct observation and information provided by parents. Therapists and parents used the Portuguese-Brazil version of the MACS. Intra- and inter-rater reliability was obtained using unweighted Kappa coefficient (k) and intra-class correlation coefficient (ICC). The Chi-square test was used to identify the predominance of disagreements in the classification of parents and therapists. RESULTS: An almost perfect agreement resulted among therapists [K=0.90 (95% CI 0.83-0.97); ICC=0.97 (95%CI 0.96-0.98)], as well as with intra-rater (therapists), with Kappa ranging between 0.83 and 0.95 and ICC between 0.96 and 0.99 for the evaluator with more and less experience in rehabilitation, respectively. The agreement between therapists and parents was fair [K=0.36 (95% CI 0.22-0.50); ICC=0.79 (95% CI 0.70-0.86)]. CONCLUSIONS: The Portuguese version of the MACS is a reliable instrument to be used jointly by parents and therapists. .

Gross Motor Function Classification System Expanded & Revised (GMFCS E & R): reliability between therapists and parents in Brazil.

BACKGROUND: Several studies have demonstrated the importance of using the Gross Motor Function Classification System (GMFCS) to classify gross motor function in children with cerebral palsy, but the reliability of the expanded and revised version has not been examined in Brazil (GMFCS E & R). OBJECTIVE: To determine the intra- and inter-rater reliability of the Portuguese-Brazil version of the GMFCS E & R applied by therapists and compare to classification provided by parents of children with cerebral palsy. METHOD: Data were obtained from 90 children with cerebral palsy, aged 4 to 18 years old, attending the neurology or rehabilitation service of a Brazilian hospital. Therapists classified the children's motor function using the GMFCS E & R and parents used the Brazilian Portuguese version of the GMFCS Family Report Questionnaire. Intra- and inter-rater reliability was obtained through percentage agreement and Cohen's unweighted Kappa statistics (k). The Chi-square test was used to identify significant differences in the classification of parents and therapists. RESULTS: Almost perfect agreement was reached between the therapists [K=0.90 (95% confidence interval 0.83-0.97)] and intra-raters (therapists) with K=1.00 [95% confidence interval (1.00-1.00)], p<0.001. Agreement between therapists and parents was substantial (k=0.716, confidence interval 0.596-0.836), though parents classify gross motor impairment more severely than therapists (p=0.04). CONCLUSIONS: The Portuguese version of the GMFCS E & R is reliable for use by parents and therapists. Parents tend to classify their children's limitations more severely, because they know their performance in different environments.

Gross Motor Function Classification System Expanded & Revised (GMFCS E & R): reliability between therapists and parents in Brazil

BACKGROUND: Several studies have demonstrated the importance of using the Gross Motor Function Classification System (GMFCS) to classify gross motor function in children with cerebral palsy, but the reliability of the expanded and revised version has not been examined in Brazil (GMFCS E & R). OBJECTIVE:: To determine the intra- and inter-rater reliability of the Portuguese-Brazil version of the GMFCS E & R applied by therapists and compare to classification provided by parents of children with cerebral palsy. METHOD: Data were obtained from 90 children with cerebral palsy, aged 4 to 18 years old, attending the neurology or rehabilitation service of a Brazilian hospital. Therapists classified the children's motor function using the GMFCS E & R and parents used the Brazilian Portuguese version of the GMFCS Family Report Questionnaire. Intra- and inter-rater reliability was obtained through percentage agreement and Cohen's unweighted Kappa statistics (k). The Chi-square test was used to identify significant differences in the classification of parents and therapists. RESULTS: Almost perfect agreement was reached between the therapists [K=0.90 (95% confidence interval 0.83-0.97)] and intra-raters (therapists) with K=1.00 [95% confidence interval (1.00-1.00)], p<0.001. Agreement between therapists and parents was substantial (k=0.716, confidence interval 0.596-0.836), though parents classify gross motor impairment more severely than therapists (p=0.04). CONCLUSIONS: The Portuguese version of the GMFCS E & R is reliable for use by parents and therapists. Parents tend to classify their children's limitations more severely, because they know their performance in different environments. .

Erros inatos do metabolismo no Hospital das Clínicas de Ribeirão Preto: um legado de múltiplas especialidades / Inborn Errors of Metabolism - a legacy of multiple specialties

Erros inatos do metabolismo (EIM) são doenças genéticas decorrentes, em sua maioria, de deficiências enzimáticas que levam a graves distúrbios metabólicos, e que vem sendo cada vez mais diagnosticados. No presente texto relata-se um histórico sobre a evolução da abordagem diagnóstica e tratamento de EIM no HCFMRP-USP.Na FMRP-USP os EIM vêm sendo objeto de estudo em pós-graduação desde a década de 1980, dado o grande apelo clínico nas áreas de Genética Clínica, Pediatria e Neurologia Infantil, até então com auxílio do Laboratório de Patologia, além de convênio com a APAE de São Paulo para o diagnóstico de fenilcetonúria. Já iniciados os Programas de Pós-Graduação da FMRP-USP, a primeira tese a respeito foi realizada em 1980, sobre cistinúria, na Área de Genética; deficiência de glicose-6-fostato desidrogenase(G6PD) foi objetivo da segunda, em 1987, na de Pediatria. Desde essa época, garantem a rotina de investigação a realização da cromatografia de aminoácidos pelo Centro de Química de Proteínas daFMRP-USP, o convênio com o Serviço de Genética do HC de Porto Alegre-RS e a triagem urinária no Laboratório de Nutrologia, este, resultado de Mestrado em Neurologia em 1990. Nas duas últimas décadas vieram os ambulatórios especializados, o Programa de Triagem Neonatal, o tratamento por Reposição Enzimática e o apoio do Centro de Transplante de Células Tronco. Cabe ressaltar que até2009, apenas mais uma tese foi apresentada. A perpectiva para o desenvolvimento dessa área é a consolidação de uma linha de pesquisa voltada exclusivamente para os EIM na FMRP-USP.

Inborn errors of metabolism (IEM) are genetic diseases, mostly due to enzyme deficiencies leading to severe metabolic damages, increasingly diagnosed. The aim is to describe the history of the development of IEM diagnosis and treatment in the Hospital of Clinics of Ribeirão Preto, São Paulo University (HCFMRP-USP). At the beginnings of the Post-Graduate Programs in the School of Medicine of Ribeirão Preto of São Paulo University (FMRP-USP), the first thesis on IEM was performed in 1980 on cystinuria in the area of Genetics; G6PD goal was the second in 1987 in Pediatrics. Since that time, IEM diagnosis was possible, in the sequence, due to the chromatography of amino acids routine by the Center for Protein Chemistry, FMRP-USP in 1984, the partnership with the Department of Genetics, Hospital of Clinics of Porto Alegre. RS in 1988 and the urine screening in the Nutrology Laboratory of FMRP-USP, that resulted of a Master in Neurology in 1990. In the last two decades: the specialized out patients clinics, the Program for Neonatal Screening, treatment by enzyme replacement and support of the Stem Cell Transplantation Center were implemented. It is noteworthy that by 2009, just one more thesis was presented.The perspective for the development of this area is the consolidation of a line of research focused exclusively on the EIM in FMRP-USP.

Erros inatos do metabolismo confirmados no Hospital das Clínicas de Ribeirão Preto-SP no período de 2000 a 2008 / Inborn errors of metabolism in the Hospital of Clinics of Ribeirão Preto - SP from 2000 to 2008

Os Erros Inatos do Metabolismo (EIM) vêm sendo cada vez mais identificados nos últimos anos. A preocupação com o diagnóstico precoce decorre do foco na prevenção de deficiências, especialmente a mental. Este estudo descritivo teve por objetivo verificar diagnósticos confirmados e modalidades de tratamento utilizadas de janeiro de 2000 a dezembro de 2008. Método: foi realizada busca ativa de casos confirmados nos serviços que atendem esse tipo doença: neurologia (neuropediatria e doençasneuromusculares), pediatria (serviço de gastrologia e hepatologia) e genética clínica, além de levantamento no Serviço de Arquivo Médico do HCFMRP-USP. Foram confirmados 165 pacientes com EIM, com idades de um dia a 22 anos (mediana de um ano); 50 casos foram defeitos na síntese ou catabolismo de moléculas complexas, 65 no metabolismo intermediário, e 50 na produção ou utilização de energia. O tratamento foi instituído para 12 dos 50 pacientes do grupo I sendo reposição enzimática em 11 e transplante de medula óssea em um; todos do grupo II e III receberam orientação nutricional; 60 do grupo II receberam fórmula dietética industrializada; dos 50 do grupo III, 43 com mitocondriopatias receberam L-carnitina e coenzimas e aqueles com glicogenose, orientação sobre aporte de carbohidratos. A formação de novos recursos humanos, integração com a Rede EIM Brasil e linhas de pesquisa na área são prioridades para melhorar a acuidade na detecção e tratamento de erros inatos do metabolismo.

Inborn Errors of Metabolism have been increasingly identified in recent years. The early diagnosis focuses on prevention of disabilities, especially mental retardation. This descriptive study aims to verify confirmed diagnosis and treatment modalities in HCFMRP-USP cases from January of 2000 to December of 2008. A total of 165 patients with ages ranging from one day to 22 years (median one year) were detected. Fifty patients had synthesis or catabolism of complex molecules (group I), 65 intermediary metabolism (group II), and 50 had production or use of energy (group III) defects. Among the patients of group I, 11 had enzyme replacement therapy, and one bone marrow transplantation; for group II and III, inaddition to daily nutritional guidance for all of the patients, 60 from group II received industrialized diets; from group III, 43 with mitochondrial diseases received L-carnitine and coenzymes, and those with glycogenosis were focused mainly on the intake of carbohydrates. New human resources, integration with the Network EIM Brazil and lines of research in the area are priorities for improving the accuracy in the detection and treatment of inborn errors of metabolism.

Coexistence of two chronic neuropathies in a young child: Charcot-Marie-Tooth disease type 1A and chronic inflammatory demyelinating polyneuropathy.

We report an 18-month-old Charcot-Marie-Tooth type 1A (CMT1A) patient who developed a rapid-onset neuropathy, with proximal and distal weakness, and non-uniform nerve conduction studies. The neuropathy responded well to immunomodulation, confirming the coexistence of an inherited and an inflammatory neuropathy. Unexpected clinical and/or electrophysiological manifestations in CMT1A patients should alert clinicians to concomitant inflammatory neuropathy. In addition, this association raises reflections about disease mechanism in CMT1A.

Efeitos do chumbo sobre o cérebro em desenvolvimento: [revisão] / Lead effects on the developing brain: [review]

No presente trabalho procedeu-se à revisão de literatura dos efeitos do chumbo sobre o cérebro, com enfoque no desenvolvimento infantil. O chumbo pode permanecer no organismo durante toda a vida do indivíduo, sendo difícil a sua remoção. Não há nível estável seguro, considerando sua passagem lenta dos ossos para o sangue, com aceleração em condições como na gravidez. Há evidências de que o cérebro imaturo é um dos mais importantes alvos, e as pesquisas apontam para consequências mais tardias, em processos cerebro degenerativos no adulto. Na infância, mesmo níveis sanguineos inferiores a 10 ?g/dL podem afetar a cognição. Estudos clínicos registram seus efeitos tóxicos na criança em idade escolar e na adolescência trazendo prejuízos motores, sensoriais, adaptativos, cognitivos e comportamentais, destacando-se a delinquência. Conclui-se, pela gravidade dos efeitos e dificuldade de tratamento, que o enfoque na orientação populacional sobre as medidas preventivas da exposição ao chumbo é prioritário.

This work is a review of the lead effects on the brain, focusing on child development. Lead can remain in the body throughout the life, being difficulty its removal, and there is no safe stable level, considering its slow passage of the bones for blood, but acceleration in moments such as pregnancy. There is evidence that the immature brain is one of the most important targets. Surveys point to later consequence in adult life, as the degenerative brain disease. In the childhood, even blood levels under 10 ?g/dL may affect cognition. Clinical studies record their toxic effects in childhood and adolescence, bringing motor, sensory, adaptive, cognitive and behavioral losses, highlighting the crime itself. It is due to the severe effects on the developing nervous system and treatment difficulties, that the priority is the population guidance on the preventive measures of exposure to lead.

Proposal for a trigonometric method to evaluate the abduction angle of the lower limbs in neonates.

It is difficult to precisely measure articular arc movement in newborns using a goniometer. This article proposes an objective method based on trigonometry for the evaluation of lower limb abduction. With the newborn aligned in the dorsal decubitus position, 2 points are marked at the level of the medial malleolus, one on the sagittal line and the other at the end of the abduction. Using the right-sided line between these 2 points and a line from the medial malleolus to the reference point at the anterior superior iliac spine or umbilical scar, an isosceles triangle is drawn, and half of the inferential abduction angle is obtained by calculating the sine. Twenty healthy full-term newborns comprise the study cohort. Intersubject and intrasubject variability among the abduction angle values (mean [SD], 37 degrees [4] degrees) is low. This method is advantageous because the measurement is precise and because the sine can be used without approximation.

Psychometric properties of the Child Health Assessment Questionnaire (CHAQ) applied to children and adolescents with cerebral palsy.

BACKGROUND: Cerebral palsy (CP) patients have motor limitations that can affect functionality and abilities for activities of daily living (ADL). Health related quality of life and health status instruments validated to be applied to these patients do not directly approach the concepts of functionality or ADL. The Child Health Assessment Questionnaire (CHAQ) seems to be a good instrument to approach this dimension, but it was never used for CP patients. The purpose of the study was to verify the psychometric properties of CHAQ applied to children and adolescents with CP. METHODS: Parents or guardians of children and adolescents with CP, aged 5 to 18 years, answered the CHAQ. A healthy group of 314 children and adolescents was recruited during the validation of the CHAQ Brazilian-version. Data quality, reliability and validity were studied. The motor function was evaluated by the Gross Motor Function Measure (GMFM). RESULTS: Ninety-six parents/guardians answered the questionnaire. The age of the patients ranged from 5 to 17.9 years (average: 9.3). The rate of missing data was low (<9.3%). The floor effect was observed in two domains, being higher only in the visual analogue scales (< or = 35.5%). The ceiling effect was significant in all domains and particularly high in patients with quadriplegia (81.8 to 90.9%) and extrapyramidal (45.4 to 91.0%). The Cronbach alpha coefficient ranged from 0.85 to 0.95. The validity was appropriate: for the discriminant validity the correlation of the disability index with the visual analogue scales was not significant; for the convergent validity CHAQ disability index had a strong correlation with the GMFM (0.77); for the divergent validity there was no correlation between GMFM and the pain and overall evaluation scales; for the criterion validity GMFM as well as CHAQ detected differences in the scores among the clinical type of CP (p < 0.01); for the construct validity, the patients' disability index score (mean:2.16; SD:0.72) was higher than the healthy group (mean:0.12; SD:0.23)(p < 0.01). CONCLUSION: CHAQ reliability and validity were adequate to this population. However, further studies are necessary to verify the influence of the ceiling effect on the responsiveness of the instrument.

Cicatricial upper eyelid retraction in encephalocraniocutaneous lipomatosis: a report of two cases and review of literature.

PURPOSE: To describe two patients with encephalocraniocutaneous lipomatosis (ECCL) and to review the literature on this disorder. METHODS: Brain and orbit CT scans were performed on two patients with ECCL. Both patients were examined by the same ophthalmologist and neurologist during at least a 2-year follow-up period. RESULTS: Unilateral skull hamartomas, intracranial abnormalities, epibulbar choristomas, and ocular adnexal changes including a specific form of cicatricial upper eyelid retraction were present in both patients. CONCLUSIONS: ECCL is a special form of oculocerebrocutaneous disease that has significant adnexal findings that are essential for the diagnosis of this rare disorder.

Sequela de toxicoplasmose: provável diagnóstico diferencial / Toxicoplasmosis sequelae: differential diagnosis

Os autores discutem o diagnóstico diferencial de sequela de toxicoplasmose congênita provável em 16 crianças atendidas em um Hospital Universitário

Focusing on dissociated motor development in Brazilian children

Dissociated motor development (DMD) is considered when the baby starts independent walking late, with normality of the other fields of development. There is evidence that babies with DMD present an atypical crawling pattern and hypotonia. To investigate the frequency and characteristics of DMD, neurological examination was performed monthly in 177 healthy full-term babies from 6 months age, in urban and rural zone samples in Brazil. Among 20 children with atypical crawling, none presented hypotonia neither did they start independent walking late. The means of the ages at the begining of atypical crawling and independent walking acquisitions, 7.40mo (SD 1.4) and 12.76mo (SD 2.5) respectively, did not differ from the group with crossed crawling pattern. Thus, in this sample of Brazilian healthy children we did not find cases with DMD

Paralisia cerebral diagnóstico etiológico / Cerebral palsy aetiologic diagnosis

Em estudo retrospectivo foram analisados 35 prontuários, obtidos ao acaso, de crianças com diagnóstico de Paralisia Cerebral (PC), atendidas no Hospital das Clínicas de Ribeirão Preto, entre 1982 e 1998, com o objetivo de verificar fatores etiológicos. As infecções congênitas (36 por cento) e agressão hipóxico-isquêmica (28 por cento) foram os mais freqüentes fatores determinantes de PC entre 25 casos com etiologia definida. Estes achados podem ser utilizados para estratégias regionais de prevenção de deficiências. Para os casos sem etiologia definida, lembram-se as formas herdadas de paralisia cerebral e o diagnóstico diferencial com doenças degenerativas

Encefalopatia hipóxico-isquemica em recém-nascidos a termo. Aspectos da fase aguda e evoluçäo / Hypoxic-ischemic encephalopathy in infant newborn. acute period and outcome

Noventa e quatro recém-nascidos com endefalopatia hipóxico-isquêmica (EHI), atendidos no Hospital das Clínicas de Ribeiräo Preto desde 1982, foram avaliados evolutivamente na fase aguda e por período médio de 47 meses. De 43 casos com EHI I, 40 se recuperaram em 96 horas e 3 faleceram. Dos 40 com EHI II, 37,5 por cento se recuperaram até o sétimo dia e demais permaneceram com alteraçöes. Os 11 casos com grau III faleceram até o segundo mês de vida. As crianças com EHI grau I näo apresentaram sequelas motoras. Do grupo com EHI grau II 34,5 por cento apresentaram paralisia cerebral e 17,7 por cento atraso neuromotor. 80 por cento dos casos com sequela apresentaram exame neurológico anormal além do sétimo dia, na fase aguda da EHI. Epilepsia ocorreu em 17,5 por cento dos casos com EHI grau II e somente no grupo com sequelas motoras. Teste de QI nao evidenciou diferença significativa entre os grupos com grau I, II sem sequelas motoras e o grupo controle. Com esses dados os autores reafirmaram a importância prognóstica da evoluçäo da EHI na fase aguda.

Convulsöes neonatais - relato de caso / Neonatal seizures - a case report

Convulsöes neonatais e grave paralisia cerebral säo discutidas em um caso, no qual se registrou a evoluçäo do edema cerebral, no período perinatal, para encefalomalácia multicística. Diagnóstico diferencial de encefalopatia hipóxico-isquêmica é considerada.

Distúrbios autonômicos, distonia e ataxia cerebelar intermitentes e progressivos em uma criança: relato de caso / Intermittent and progressive autonomic disturbances, dystonia and cerebelar ataxia in a child: case report

Os autores discutem o caso de uma criança com quadro paroxístico de disautonomia de origem central, marcado por períodos de sonolência desde os 11 meses de idade, ataxia cerebelar intermitente progressiva, paroxismos distônicos com início aos 4, e óbito aos 5 anos de idade.

Fatores materno-obstétricos, anoxia neonatal e seqüelas neurológicas / Maternal-obstetrics factors, neonatal anoxia and neurological sequelae

Estudou-se a distribuiçao de alguns fatores materno-obstétricos (idade materna, pré-eclâmpsia, hipertensao arterial crônica, número de gestaçoes, trabalho de parto prolongado, mecônio no líquido amniótico, descolamento prematuro de placenta, rotura prolongada de membranas, período expulsivo prolongado, parto pélvico, prolapso e circular de cordao) em crianças nascidas a termo no Hospital das Clínicas de Ribeirao Preto-USP, de acordo com a gravidade da encefalopatia hipóxico-isquêmica (EHI) e suas seqüelas, até a idade de 60 meses. A EHI foi classificada em grau I ou leve, II ou moderada e III ou grave. Os três grupos com EHI (78 casos) foram comparados a dois outros grupos sem EHI, sendo um sem anoxia e com escore de Apgar igual ou superior a 7 desde o primeiro minuto (Grupo A- 65 casos), e outro, com algum grau de anoxia perinatal, com Apgar inferior a 7 no primeiro minuto (Grupo B - 216 casos). Observou-se maior freqüência dos seguintes fatores, nos grupos com anoxia (com EHI mais o grupo B) em relaçao ao grupo A: pré-eclâmpsia, trabalho de parto e expulsivo prolongados, líquido meconiado, descolamento prematuro de placenta e parto pélvico. Para nenhum dos fatores houve diferença significante entre os grupos com EHI e o grupo B. Mais de uma indicaçao de cesariana por parturiente foi mais freqüente quanto mais grave o grau da EHI. Houve maior proporçao de maes com idade superior a 30 anos no grupo com seqüelas, em relaçao ao grupo sem seqüelas. Estes dados evidenciam a equivalência dos fatores materno-obstétricos estudados no desencadeamento da anóxia perinatal, a concomitância dos mesmos como agravante, e sugerem a importância do fator tempo de exposiçao fetal à condiçao hipóxico-isquêmica para o comprometimento cerebral e suas sequelas.

Exame neurológico em crianças / Neurologic examination in children

Técnicas de exame neurológico em crianças, desde o período neonatal, säo descritas bem como modificaçöes que ocorrem, no decorrer da maturaçäo tono, reflexos, postura, coordenaçäo, equilíbrio, linguagem, praxias e gnosias. Ao final, é apresentado um esquema que reúne dados da semiologia neurológica e do desenvolvimento até 7 anos.

Recurrent meningitis in a case of congenital anterior sacral meningocele and agenesis of sacral and coccygeal vertebrae

Um caso raro de meningite recorrente devido a meningocele sacral anterior e agenesia das vértebras sacras é descrito. Herança autossômica dominante para malformaçao medular caudal é demonstrada e, possíveis fatores ambientais (ligados ao cromo), sao discutidos.