Abstract Introduction During pregnancy, women are at an increased risk of developing iron-deficiency anemia. Objective The objective of this study was to assess the diagnostic performance of the reticulocyte hemoglobin equivalent (RET-He) in the early detection of iron-deficiency anemia in a group of pregnant women and to establish a reference range for this parameter in a group of control individuals. Method: A total of 60 patients and 130 control subjects were included in the study. Blood samples collected from the subjects were submitted to a complete blood count and a serum ferritin test and the data were analyzed by comparing the groups and ROC curves. Results The reference range found for the RET-He was between 29.75pg and 38.24pg, with a median of 35pg. The receiver operating characteristic (ROC) curve analysis for the ferritin parameter showed an area under the curve of 0.732 for the RET-He, 0.586 for hemoglobin, 0.551 for the mean corpuscular hemoglobin concentration and 0.482 for the mean corpuscular volume. Conclusion Early diagnosis of iron deficiency anemia in pregnancy is essential to prevent damage to both maternal and fetal health. The RET-He presents an excellent potential as an auxiliary tool for the diagnosis of iron deficiency in pregnant women.

Abstract Spinal muscular atrophy (SMA) is considered one of the most common autosomal recessive disorders, with an estimated incidence of 1 in 10,000 live births. Testing for SMA has been recommended for inclusion in neonatal screening (NBS) panels since there are several therapies available and there is evidence of greater efficacy when introduced in the pre/early symptomatic phases. In Brazil, the National Neonatal Screening Program tests for six diseases, with a new law issued in 2021 stating that it should incorporate more diseases, including SMA. In the present study, dried blood spot (DBS) samples collected by the Reference Services of Neonatal Screening of RS and SP, to perform the conventional test were also screened for SMA, using real-time PCR, with SALSA MC002 technique. A total of 40,000 samples were analyzed, enabling the identification of four positive cases of SMA, that were confirmed by MLPA. Considering our sampling, Brazil seems to have an incidence comparable to the described in other regions. This work demonstrated that the use of the MC002 technique in samples routinely collected for the conventional NBS program is suitable to screen for SMA in our conditions and can be included in the expansion of the neonatal screening programs.

ABSTRACT Objective: To determine the incidence of congenital hypothyroidism (CH) over a 10-year period at the Reference Service in Neonatal Screening of the state of Rio Grande do Sul (RSNS-RS). Subjects and methods: Historical cohort study including all newborns screened for CH by the RSNS-RS from January 2008 until December 2017. Data of all newborns with neonatal TSH (neoTSH; heel prick test) values ≥ 9 mIU/L were collected. According to neoTSH values, the newborns were allocated into two groups: Group 1 (G1), comprising newborns with neoTSH ≥ 9 mIU/L and serum TSH (sTSH) < 10 mIU/L, and Group 2 (G2), comprising those with neoTSH ≥ 9 mIU/L and sTSH ≥ 10 mIU/L. Results: Of 1,043,565 newborns screened, 829 (0.08%) had neoTSH values ≥ 9 mIU/L. Of these, 284 (39.3%) had sTSH values < 10 mIU/L and were allocated to the G1 group, while 439 (60.7%) had sTSH ≥ 10 mIU/L and were allocated to the G2 group, and 106 (12.7%) were considered missing data. The overall incidence of CH was 42.1 per 100,000 newborns screened (95% confidence interval [CI] 38.5-45.7/100,000) or 1:2377 screened newborns. The sensibility and specificity of neoTSH ≥ 9 mIU/L were 97% and 11%; of neoTSH 12.6 mUI/L, 73% and 85% respectively. Conclusion: In this population, the incidence of permanent and transitory CH was 1:2377 screened newborns. The neoTSH cutoff value adopted during the study period showed excellent sensibility, which matters for a screening test.

Abstract Sickle cell disease (SCD) is the most common inherited hematological disease worldwide. The benefits of diagnosis and early intervention have led to the wide dissemination of public health programs worldwide. Through neonatal screening programs, it is possible to reduce morbidity and mortality in the first 5 years of life. The prophylactic use of penicillin, the anti-pneumococcal vaccine and other intensive care, increase the survival and quality of life of people with SCD. The aim of this study is to present the 20-year history of screening for hemoglobinopathies in Brazil and its challenges. From 2001 to 2019, an average of 2,400,000 children were screened per year nationwide, with the coverage being of 82,16%. The screening of 54,9% of newborns is collected up to their 5th day of life. The prevalence of SCD was 1:2,263 newborns; therefore, it was the second most-common disease detected by the program of Brazil, being only after hypothyroidism (1/2,175 live births). The healthcare system should provide the necessary infrastructure to confirm the diagnosis of newborns and to provide appropriate counseling and treatment. The early diagnosis and treatment, as well as the follow-up with a multidisciplinary team, are fundamental to the survival rate and the quality of life of patients.

Resumo Objetivo: Descrever os resultados obtidos em um programa de triagem neonatal após sua implementação e avaliar os perfis clínicos e moleculares de casos confirmados e suspeitos de hiperplasia adrenal congênita. Métodos: Foi feito um estudo transversal. Recém-nascidos com suspeita da doença devido aos altos níveis de 17-alfa-hidroxiprogesterona e ajustados pelo peso ao nascer foram selecionados. A hiperplasia adrenal congênita clássica (forma perdedora de sal e forma virilizante simples) foi diagnosticada por um aumento nos níveis de 17-alfa-hidroxiprogesterona confirmado no reteste, avaliação clínica e genótipo determinado com o uso do ensaio SNaPshot e amplificação multiplex de sondas dependente de ligação. Resultados: Após 24 meses, 15 casos clássicos de hiperplasia adrenal congênita foram diagnosticados em 217.965 recém-nascidos, com uma incidência estimada de 1:14.531. De 132 pacientes, sete não clássicos e 14 heterozigotos foram submetidos à triagem para mutações no gene CYP21A2 e 96 pacientes apresentaram resultados falso-positivos com CYP21A2 do tipo selvagem. No reteste, níveis aumentados de 17-alfa-hidroxiprogesterona foram encontrados em pacientes com hiperplasia adrenal congênita clássica e mostraram correlação significativa com HAC clássica relacionada ao genótipo. As mutações mais frequentes foram IVS2-13A/C>G, seguidas de deleção gênica ou eventos de rearranjo na forma clássica. Em casos de doenças não clássicas e heterozigose, a mutação p.Val282Leu foi a mais comum. Conclusões: Os resultados ressaltam a eficácia da triagem neonatal para a hiperplasia adrenal congênita no sistema público de saúde e indicam que a estratégia adotada foi adequada. A segunda coleta de amostras, juntamente com a genotipagem dos casos suspeitos, ajudou a diagnosticar adequadamente os casos graves e mais leves e diferenciá-los de pacientes com resultado falso-positivo.

Abstract Objective: To describe the results obtained in a neonatal screening program after its implementation and to assess the clinical and molecular profiles of confirmed and suspicious congenital adrenal hyperplasia cases. Methods: A cross-sectional study was conducted. Newborns with suspected disease due to high 17-hydroxyprogesterone levels and adjusted for birth weight were selected. Classical congenital adrenal hyperplasia (salt-wasting and simple virilizing forms) was diagnosed by an increase in 17-hydroxyprogesterone levels as confirmed in the retest, clinical evaluation, and genotype determined by SNaPshot and multiplex ligation-dependent probe amplification. Results: After 24 months, 15 classic congenital adrenal hyperplasia cases were diagnosed in a total of 217,965 newborns, with an estimated incidence of 1:14,531. From 132 patients, seven non-classical and 14 heterozygous patients were screened for CYP21A2 mutations, and 96 patients presented false positives with wild type CYP21A2. On retest, increased 17-hydroxyprogesterone levels were found in classical congenital adrenal hyperplasia patients and showed significant correlation with genotype-related classical genital adrenal hyperplasia. The most frequent mutations were IVS2-13A/C>G followed by gene deletion or rearrangement events in the classical form. In non-classical and heterozygous diseases, p.Val282Leu was the most common mutation. Conclusions: The results underscore the effectiveness of congenital adrenal hyperplasia neonatal screening in the public health system and indicate that the adopted strategy was appropriate. The second sample collection along with genotyping of suspected cases helped to properly diagnose both severe and milder cases and delineate them from false positive patients.

Abstract Sickle cell hemoglobin is the result of a mutation at the sixth amino acid position of the beta (β) globin chain. The HBB*S gene is in linkage disequilibrium with five main haplotypes in the β-globin-like gene cluster named according to their ethnic and geographic origins: Bantu (CAR), Benin (BEN), Senegal (SEN), Cameroon (CAM) and Arabian-Indian (ARAB). These haplotypes demonstrated that the sickle cell mutation arose independently at least five times in human history. The distribution of βS haplotypes among Brazilian populations showed a predominance of the CAR haplotype. American populations were clustered in two groups defined by CAR or BEN haplotype frequencies. This scenario is compatible with historical records about the slave trade in the Americas. When all world populations where the sickle cell gene occurs were analyzed, three clusters were disclosed based on CAR, BEN or ARAB haplotype predominance. These patterns may change in the next decades due to recent migrations waves. Since these haplotypes show different clinical characteristics, these recent migrations events raise the necessity to develop optimized public health programs for sickle cell disease screening and management.

Abstract The collection of dried blood spots (DBSs) on filter paper has been a powerful tool in newborn screening (NBS) programs and in other fields. However, filter paper has been associated with some level of imprecision due to the filter paper matrix effect. In order to minimize measurement variations, these interferences should be evaluated by NBS assays. The aim of this study is to evaluate the performance of genetic screening processor (GSP) equipment in comparison with a widely used AutoDELFIA and to discuss the limitations and advantages of this new technology in NBS. We evaluated the performance of 3 NBS assays in DBS using GSP in comparison with AutoDELFIA. To determine the inaccuracy and the intra-assay precision, a comparative study and a replication experiment were performed. In the comparative study, human thyroid-stimulating hormone (hTSH) assay showed the highest correlation coefficient, followed by 17α-OH-progesterone and immunoreactive trypsinogen (IRT) assays. The results of the present study suggest that the GSP equipment and kits are suitable for implementation and have acceptable performance for NBS routine. Genetic screening processor assay tends to underestimate hTSH and IRT concentrations in the clinically relevant range when compared to AutoDELFIA assays. More studies are necessary to reevaluate cutoff values. Furthermore, the equipment has advantages when compared with AutoDELFIA, such as methodology with more specificity, reduction in the processing time, and randomized routine. This helps promoting faster dynamic technical processes and faster report generation.

A triagem neonatal da fibrose cística (FC) é realizada por meio da quantificação da tripsina imunorreativa. O objetivo desse estudo foi validar o kit AutoDELFIA® Neonatal immunoreactive trypsinogen. Realizou-se um estudo comparativo entre dois equipamentos. Como resultado, encontrou-se o erro aleatório = 26,6%erro sistemático = 4,9% e erro total = 31,5%. Diversos fatores contribuem para a variação dos ensaios em papel filtro, como efeito cromatográfico, efeito do hematócrito e efeito do volume total de sangue. Esses fatores devem sem considerados na avaliação dos resultados da validação. O proposto kit pode ser implantado na rotina de triagem neonatal para FC.

Neonatal screening programs for cystic fibrosis (CF) usually consist of an immunoreactive trypsinogen assay. The objective of this study was to validate the AutoDELFIA® Neonatal immunoreactive trypsinogen kit. We carried out a comparative study between two equipments. The following results were yielded: random error = 26.6%systematic error = 4.95% and analytical error = 31.5%. Several factors contributed to the assay variations in dried blood spot, namely chromatographic, hematocrit and total blood volume effects. These factors should be taken into account in the assessment of validation results. The studied kit can be deployed in neonatal screening routine.

INTRODUÇÃO: O traço falciforme é a presença em heterozigose da hemoglobina S (HbS). A partir de junho de 2004, por meio da RDC 153/04, tornou-se obrigatória a triagem de hemoglobinas anormais em doadores de sangue. OBJETIVO: O objetivo deste estudo foi a comparação de diferentes metodologias de triagem utilizadas nos bancos de sangue para a detecção da HbS. Material e método: No período de abril de 2007 a abril de 2008, foram realizados três métodos de detecção de HbS em 4.108 doadores de sangue aptos que se apresentaram ao banco de sangue do Hospital Universitário de Santa Maria (HUSM). O estudo comparativo entre as metodologias incluiu os testes de solubilidade e de gel-centrifugação, tendo como referência de positividade a presença de HbS na eletroforese de hemoglobina. RESULTADOS: Dos 4.108 doadores estudados, 23 (0,56%) apresentaram resultado positivo para HbS e dois (0,05%) para HbC. Das amostras positivas para HbS detectadas por eletroforese qualitativa, 22 (95,6%) foram detectadas pelo teste de solubilidade e 20 (86,9%) pelo de gel-centrifugação. CONCLUSÃO: A eletroforese de hemoglobinas representou a melhor metodologia na identificação de hemoglobinas variantes e, portanto, deve ser valorizada quando se trata de diagnóstico para triagens em bancos de sangue pelo seu grau de sensibilidade, minimizando ao máximo os resultados falsos negativos e garantindo a qualidade do sangue que estará sendo utilizado.

INTRODUCTION: The sickle cell trait is the presence of hemoglobin S (HbS) in heterozygosity. According to RDC regulation 153/04, abnormal hemoglobin screening has become mandatory in blood donation samples since June 2004. OBJECTIVE: The aim of this study was to compare different screening methods used in blood banks for HbS detection. Material and method: From April 2007 to April 2008, three HbS detection methods were applied in 4,108 suitable blood samples from the blood bank of the University Hospital of Santa Maria (HUSM). The comparative study among the methods comprised solubility tests and gel-centrifuge (ID-HbS). Furthermore, the positivity reference was the presence of HbS on hemoglobin electrophoresis. RESULTS: Twenty-three (0.56%) out of 4,108 samples showed positivity for HbS and two (0.05%) showed positivity for HbC. Twenty-two (95.6%) out of 23 HbS positive samples determined through qualitative electrophoresis were detected by solubility test and 20 (86.9%) were detected by gel-centrifugation test. CONCLUSION: Hemoglobin electrophoresis proved the best method in the identification of hemoglobin variants and, therefore, worthwhile when it comes to diagnostic screening in blood banks due to its high sensitivity, which keeps false-negative results to a minimum and ensures blood quality.

Alpha thalassemia has not been systematically investigated in Brazil. In this study, 493 unrelated individuals from the southernmost Brazilian state of Rio Grande do Sul were screened for deletional forms of α-thalassemia. One hundred and one individuals had microcytic anemia (MCV < 80 fL) and a normal hemoglobin pattern (Hb A2 < 3.5% and Hb F < 1%). The subjects were screened for -α3.7,-α4.2,-α20.5, -SEA and -MED deletions but only the -α3.7 allele was detected. The -α3.7 allele frequency in Brazilians of European and African ancestry was 0.02 and 0.12, respectively, whereas in individuals with microcytosis the frequency was 0.20. The prevalence of α-thalassemia was significantly higher in individuals with microcytosis than in healthy individuals (p = 0.001), regardless of their ethnic origin. There were also significant differences in the hematological parameters of individuals with -α3.7/αα, -α3.7/α3.7 and β-thalassemia trait compared to healthy subjects. These data suggest that α-thalassemia is an important cause of microcytosis and mild anemia in Brazilians.

FUNDAMENTO: Parâmetros derivados do Doppler tecidual correlacionam-se com a pressão diastólica final do ventrículo esquerdo (VE) e podem servir como índice prognóstico na insuficiência cardíaca. OBJETIVO: Determinar se parâmetros do Doppler tecidual podem predizer eventos em longo prazo em pacientes ambulatoriais com disfunção sistólica do VE. MÉTODOS: Estudo retrospectivo envolvendo 73 pacientes (60,9±12,1 anos) que realizaram ecocardiograma Doppler entre março de 2001 e maio de 2004. O evento primário pesquisado foi morte ou hospitalização por piora da insuficiência cardíaca. RESULTADOS: O período de seguimento médio foi de 1.367±665 dias. Após análise logística multivariada "stepwise" incluindo os parâmetros ecocardiográficos, a razão entre as velocidades máximas de enchimento do VE e miocárdica no início da diástole (razão E/E'; p=0,0007) e a fração de ejeção do VE (FE; p=0,01) permaneceram como preditores do evento primário. Os pontos de corte ótimos para a previsão do evento primário para a razão E/E' (AUC 0,77; p=0,0001) e FE (AUC 0,68; p=0,006) foram, respectivamente, 12,7% e 30%. Assim, pacientes com razão E/E' > 12,7 (razão de risco=3,8, p=0,001) ou FE <30% (razão de risco=2,3, p=0,03) demonstravam pior prognóstico pela análise da curva de sobrevida. Importante salientar que 47% dos pacientes com FE acima do ponto de corte, mas razão E/E' elevada, apresentaram eventos durante o período estudado. CONCLUSÃO: Em pacientes ambulatoriais com disfunção sistólica do VE, a razão E/E' é um importante e independente indicador prognóstico em longo prazo de morte ou hospitalização. Portanto, recomenda-se incluir a medida dessa variável na avaliação rotineira desses pacientes.

BACKGROUND: Tissue Doppler parameters correlate with left ventricular (LV) filling pressure and can be useful as prognostic indexes for patients with heart failure. OBJECTIVE: Determine whether tissue Doppler parameters can predict events during long term follow-up of outpatients with LV systolic dysfunction. MeTHODS: Retrospective study with 73 patients (aged 60.9±12.1 years) who underwent Doppler echocardiogram between March 2001 and May 2004. The primary endpoint studied was death or hospitalization due to heart failure worsening. RESULTS: The mean follow-up period was 1,367±665 days. After logistic stepwise multivariate analysis, including echocardiographic parameters, the ratio of maximal early diastolic filling wave velocity to maximal early diastolic myocardial velocity (E/E` ratio; p=0.0007), and LV ejection fraction (EF; p=0.01) remained significant predictors of the primary outcome. The optimal cutoffs for primary endpoint prediction for E/E' ratio (AUC 0.77; p=0.0001) and EF (AUC 0.68, p=0.006) were respectively 12.7 and 30%. Accordingly, patients with E/E' ratio > 12.7 (hazard ratio=3.8, p =0.001) or EF <30% (hazard ratio=2.3, p=0.03) had a poorer outcome by survival curve analysis. It is noteworthy that 47% of the patients with EF above the optimal cutoff point, but with high E/E' ratio, presented events during follow-up. CONCLUSION: E/E' ratio is an important independent long-term prognostic index of death or hospitalization due to worsening heart failure in outpatients with LV systolic dysfunction. Therefore, we recommend the measurement of this variable in the routine evaluation of such patients.

A deficiência de glicose-6-fosfato desidrogenase (G6PD) é um problema de saúde pública que afeta aproximadamente 400 milhões de pessoas no mundo. No mercado, existem vários métodos que medem a atividade da G6PD. Os objetivos deste estudo foram determinar a acurácia do método de Brewer frente a um padrão de referência e estimar a prevalência de deficiência de G6PD na amostra. Foi realizado um estudo transversal de grupo de pacientes internados no HCPA com icterícia a esclarecer, no período de junho de 2004 a maio de 2005. Amostras foram processadas pelo método de Brewer e pelo método de Normalização da Hemoglobina, o qual foi usado como padrão ouro. Foi analisado para atividade da G6PD um total de 173 pacientes. A idade variou de 1 dia a 82 anos, sendo que 66% da amostra possuía até 15 dias de vida. A atividade média e o desvio padrão da G6PD na amostra analisada foi de 17.67± 5,66 U/gHb. A freqüência estimada, pelo padrão ouro, da deficiência de G6PD, foi de 13 (7,7%) pacientes com deficiência parcial ou total, e pelo método de Brewer foi de 14 (8,67%). A sensibilidade do método de Brewer comparada com o método quantitativo da Normalização da Hemoglobina foi de 92,8% e a especificidade foi de 98,7%. A deficiência de G6PD é prevalente em nosso meio. Testes de baixo custo, tais como o teste de Brewer, podem ser utilizados como testes de triagem desta deficiência, principalmente no monitoramento de recém-nascidos que estão sob o risco de desenvolver icterícia neonatal.

Glucose-6-phosphate dehydrogenase deficiency (G6PD) is a public health problem which affects about 400 millions of people all over the world. Some methods that measure the activity of G6PD have already been developed. Thus, the aim of this study was to evaluate the accuracy of the Brewer's method compared with a standard reference and estimate the prevalence of G6PD deficiency in the sample. A cross-sectional study of a group of patients in HCPA presenting with jaundice was carried out from June 2004 to May 2005. Samples were processed by the metahaemoglobin reduction test (Brewer's method) and by the method of Haemoglobin Normalization, which was used as the standard reference. A total of 173 patients were analyzed for G6PD activity. The ages varied from one day to 82 years old with 66% of the sample being less than 16 days old. The mean activity and standard deviation of G6PD for the analyzed sample was 17.67 ± 5.66 U/gHb. The estimated frequencies of G6PD deficiency for the standard reference and Brewer's method were 13 (7.7%) subjects (total or partial deficiency) and 14 (8.67%), respectively. When the Brewer's method was compared with the quantitative method of Hemoglobin Normalization, it showed a sensitivity of 92.8% and specificity of 98.7%. As G6PD deficiency predominates in our society, low cost tests, such as the Brewer's test can be used for screening this deficiency, mainly to monitor newborn babies who are at risk of developing jaundice.

Visando avaliar o intervalo QTc e sua relação com variáveis clínicas, laboratoriais e com suscetibilidade da LDL à oxidação in vitro em pacientes com DM1, estudamos 40 diabéticos e 33 não diabéticos com idades de 24,83 ± 10,21 e 23,51 ± 7,28 anos, respectivamente, pareados por sexo, idade e índice de massa corporal (IMC). Avaliamos controle metabólico, apolipoproteínas A e B, coeficiente de oxidação da LDL por espectrofotometria e eletrocardiograma (ECG). O intervalo QTc foi calculado pela fórmula de Bazett. Não houve diferença no QTc entre os grupos dos DM1 e dos não diabéticos (394,43 ± 19,98 ms vs. 401,31 ± 17,83 ms; p = 0,2065). Cinco diabéticos apresentavam QTc aumentado (396,76 ± 14,63 ms vs. 429,75 ± 1,89 ms; p < 0,001) e menores níveis de apolipoproteína A que os demais diabéticos (74,60 ± 25,42 mg/dL vs. 113,64 ± 29,79 mg/dL; p = 0,011). Na amostra total, houve correlação entre QTc e IMC (rho = -0,288; p = 0,045), glicemia pós-prandial (rho = 0,357; p = 0,016) e coeficiente de oxidação 3 h (Cox3h) (r = -0,293; p = 0,039). Nos diabéticos, encontramos correlação entre QTc e triglicerídeos (rho = -0,420; p = 0,023) e Cox3h (r = -0,427; p = 0,021). Embora não tenhamos encontrado diferença entre o QTc dos diabéticos e não diabéticos estudados, houve correlação com marcadores de risco para a doença aterosclerótica. Entretanto, ainda são necessários mais estudos para estabelecer o real valor preditivo do QTc para esta doença nos pacientes com DM1.

To evaluate the QTc interval and its relation with clinical, laboratorial variables and LDL susceptibility to in vitro oxidation in patients with type 1 DM, we studied 40 diabetics and 33 non diabetics with 24.83 ± 10.21 and 23.51 ± 7.28 years old, respectively matched by sex, age and body mass index (BMI). We evaluated metabolic control, A and B apolipoproteins, LDL oxidation coefficient for spectrophotometry and electrocardiogram (ECG). Interval QTc was calculated by the Bazett’s formula. There was no difference in QTc between diabetic and non diabetic groups (394.43 ± 19.98 ms versus 401.31 ± 17.83 ms; p = 0.2065). Five diabetics showed increased QTc (396.76 ± 14.63 ms versus 429.75 ± 1.89 ms; p < 0.001) and lesser A apolipoprotein levels than rest of diabetic group (74.60 ± 25.42 mg/dL versus 113.64 ± 29.79 mg/dL; p = 0,011). In pooled sample, there was correlation between QTc and BMI (rho = -0.288; p = 0.045), pot-prandial glycemia (rho = 0.357; p = 0.016) and 3 h oxidation coefficient (OxC3h) (r = -0.293; p = 0.039). In diabetics, there was correlation between QTc and triglycerides (rho = -0.420; p = 0.023) and OxC3h (r = -0.427; p = 0.021). Although there was no difference between QTc of diabetics and the non diabetics subjects studied, there was correlation with risk factors for the atherosclerotic disease. Further studies are necessary to establish the real predictive value of QTc for this type of disease in the patients with type 1 DM.

O objetivo deste estudo foi descrever os principais aspectos fonoaudiológicos relacionados à fala na doença de Machado-Joseph, em um indivíduo do sexo masculino, selecionado entre outros pacientes portadores desta doença com limitações significativas de fala. O paciente foi atendido no Setor de Fonoaudiologia do Serviço de Fisiatria do Hospital de Clínicas de Porto Alegre. Especificamente quanto à fala e seus processos, observou-se quadro disártrico predominantemente atáxico, que piorou com a evolução da doença, passando de leve para severo. Estes resultados permitiram a conclusão de que as alterações tornam-se significativas na fala do portador de doença de Machado-Joseph, associadas ao comprometimento da respiração, articulação, fonação e ressonância. Concluiu-se também quanto à importância do tratamento fonoaudiológico na doença de Machado-Joseph, sugerindo-se novos estudos, com número maior de indivíduos, sejam realizados, a fim de melhor caracterizar as alterações de fala observadas neste estudo.

The aim of this study was to describe the essential speech aspects of Machado-Joseph disease in a male patient with this diagnosis, selected among others with the same disease that received treatment at the Speech-Language Pathology and Audiology department of Hospital de Clínicas de Porto Alegre (Brazil). Regarding the speech process, it was observed ataxic dysarthria, which worsened from light to severe with the evolution of the disease. These results allowed the conclusion that speech alterations become more and more significant for Machado-Joseph patients, together with deficits in breathing, articulation, phonation and resonance. Finally, it was possible to suggest that Speech Pathology treatment is essential in Machado-Joseph disease, although more studies are necessary, with larger samples, in order to better characterize the speech alterations observed this study.