Gustavo Antonio Moreira

Guidelines for the Management of Mucopolysaccharidosis Type I

Mucopolysaccharidosis type I (MPS I) is the prototype of the MPS disorders, a subgroup of lysosomal storage diseases. The incidence of MPS I in Brazil is unknown, but a retrospective population study in Australia conducted between 1980 and 1996 yielded an overall prevalence of 1 in 22 500 for all MPS types. 1 In British Columbia, cases ascertained between 1952 and 1986 determined that the frequency of MPS type I Hurler, the most severe form of the disease, was approximately 1 in 144 000 newborns, 2 a result similar to that found in The Netherlands. 3 A recent analysis of data collected by the Society for Mucopolysaccharides in the United Kingdom in patients with MPS I found a prevalence of 1.07 per 100 000 births. 4 MPS I is characterized by a deficiency in a-L-iduronidase enzyme activity, leading to buildup and urinary excretion of high levels of glycosaminoglycans (GAGs), specifically dermatan and heparan sulfates. The disease is genetically determined and shows autosomal recessive inheritance. 5,6 MPS

Empilhamento de ar e compressão torácica aumentam o pico de fluxo da tosse em pacientes com distrofia muscular de Duchenne

OBJECTIVE: To evaluate cough efficiency using two manually-assisted cough techniques. METHODS: We selected 28 patients with Duchenne muscular dystrophy. The patients were receiving noninvasive nocturnal ventilatory support and presented FVC values < 60% of predicted. Peak cough flow (PCF) was measured, with the patient seated, at four time points: at baseline, during a spontaneous maximal expiratory effort (MEE); during an MEE while receiving chest compression; during an MEE after air stacking with a manual resuscitation bag; and during an MEE with air stacking and compression (combined technique). The last three measurements were conducted in random order. The results were compared using Pearsons correlation test and ANOVA with repeated measures, followed by Tukeys post-hoc test (p < 0.05). RESULTS: The mean age of the patients was 20 ± 4 years, and the mean FVC was 29 ± 12%. Mean PCF at baseline, with chest compression, after air stacking and with the use of the combined technique was 171 ± 67, 231 ± 81, 225 ± 80, and 292 ± 86 L/min, respectively. The results obtained with the use of the combined technique were significantly better than were those obtained with the use of either technique alone (F[3.69] = 67.07; p < 0.001). CONCLUSIONS: Both chest compression and air stacking techniques were efficient in increasing PCF. However, the combination of these two techniques had a significant additional effect (p < 0.0001).

OSAS in children: correlation between endoscopic and polysomnographic findings.

OBJECTIVES: To correlate polysomnographic findings with clinical history of apnea, the degree of obstruction caused by tonsillar hypertrophy, and to age group. STUDY DESIGN AND SETTING: 267 children with a clinical diagnosis of obstructive sleep apnea (OSAS) were evaluated. Patients were divided into preschool- and school-age categories, and subdivided in 3 additional groups, according to tonsillar hypertrophy. Polysomnographic findings were compared within groups. RESULTS: 34% of children had history of OSAS and normal polysomnographic findings. Tonsillar hypertrophy was correlated to more severe apnea among preschool-age children, but not among school-age children. Among children with tonsillar hypertrophy, more severe apnea was observed in preschool-age children than in school-age children. CONCLUSIONS: There is little correlation between polysomnographic and clinical findings in children with OSAS. SIGNIFICANCE: Adenotonsillar hypertrophy leads to more severe polysomnographic patterns in preschool-age children. More severe apnea is observed in younger children with adenotonsillar hypertrophy than in older ones.

Assessment of cognitive learning function in children with obstructive sleep breathing disorders

UNLABELLED Sleep obstructive breathing disorders are frequent in children but the impact of sleep deprivation on the cognitive learning function is unclear. AIM To establish whether patients with sleep obstructive breathing disorders show any functional change in learning, memory and attention. MATERIAL AND METHODS Eighty-one children aged from 6 to 12 years were divided into 3 groups: obstructive sleep apnea syndrome (OSAS), n=24; primary snoring (PS), n=37; and control, n=20. The groups were assessed using learning (Rey) and psychological (Digit, Code, Letter Concealing, and Symbol) tests. RESULTS OSAS and PS children showed statistically significant worse performance on the variable A1 in Rey test (learning and memory) when compared with controls (p=0.011). PS children had an even worse performance on the variables A2, A4, AT and A6 compared to OSAS participants and controls (p=0.020;p=0.050;p=0.004,p=0.05). CONCLUSION Children with obstructive sleep breathing disorders, in particular PS, show worse Rey test scores. PS and OSAS children performed similarly in attention tests.

Avaliação da função cognitiva da aprendizagem em crianças com distúrbios obstrutivos do sono

Sleep obstructive breathing disorders are frequent in children but the impact of sleep deprivation on the cognitive learning function is unclear. AIM: To establish whether patients with sleep obstructive breathing disorders show any functional change in learning, memory and attention. MATERIAL AND METHODS: Eighty-one children aged from 6 to 12 years were divided into 3 groups: obstructive sleep apnea syndrome (OSAS), n=24; primary snoring (PS), n=37; and control, n=20. The groups were assessed using learning (Rey) and psychological (Digit, Code, Letter Concealing, and Symbol) tests. RESULTS: OSAS and PS children showed statistically significant worse performance on the variable A1 in Rey test (learning and memory) when compared with controls (p=0.011). PS children had an even worse performance on the variables A2, A4, AT and A6 compared to OSAS participants and controls (p=0.020;p=0.050;p=0.004,p=0.05). Conclusion: Children with obstructive sleep breathing disorders, in particular PS, show worse Rey test scores. PS and OSAS children performed similarly in attention tests.

Auditory processing assessment in children with obstructive sleep apnea syndrome

INTRODUCTION The obstructive sleep apnea syndrome (OSAS) is a respiratory disorder that occurs during sleep and it is relatively common in children. AIM The goal of this paper is to verify if there is a relationship between the obstructive sleep apnea syndrome (OSAS) and auditory processing. METHODS In order to do that, three groups of children ranging in age from 5 to 11 were studied, including a normal group. Twenty subjects who made up the study group were submitted to ear, nose and throat (ENT) exams and to polysomnography (PSG), and were divided in two groups: GROUP I (RO) comprised of 10 children who presented oral breathing and displayed normal PSG, and GROUP II (SAS) comprised of 10 children who presented oral breathing and displayed abnormal PSG. Their performance was compared to the performance of the third group--GROUP III (REN) comprised of 10 children who did not refer ENT difficulties. All the subjects completed a basic audiometric assessment as well as an auditory processing diagnosis. RESULTS The analyses of the results revealed a statistically significant difference in ENT exams related to the turbinate and the palatine tonsils. Group II presented a higher incidence of turbinate hypertrophy levels II and III (p<0.001) and palatine tonsils hypertrophy grades III and IV (p 0.007). Regarding the auditory processing assessment, a statistically significant difference (p<0.001) was obtained in the dichotic digits test. Group II performed worse than group III. Also, for the non-verbal sequence memory test, Group II obtained a worse result (p<0.022) than Group I. CONCLUSION Subjects with OSAS obtained worse results in auditory processing tests.

Avaliação do processamento auditivo em crianças com síndrome da apnéia/hipopnéia obstrutiva do sono

INTRODUCTION: The obstructive sleep apnea syndrome (OSAS) is a respiratory disorder that occurs during sleep and it is relatively common in children. AIM: The goal of this paper is to verify if there is a relationship between the obstructive sleep apnea syndrome (OSAS) and auditory processing. METHOD: In order to do that, three groups of children ranging in age from 5 to 11 were studied, including a normal group. Twenty subjects who made up the study group were submitted to ear, nose and throat (ENT) exams and to polysomnography (PSG), and were divided in two groups: GROUP I (RO) comprised of 10 children who presented oral breathing and displayed normal PSG, and GROUP II (SAS) comprised of 10 children who presented oral breathing and displayed abnormal PSG. Their performance was compared to the performance of the third group - GROUP III (REN) comprised of 10 children who did not refer ENT difficulties. All the subjects completed a basic audiometric assessment as well as an auditory processing diagnosis. RESULTS: The analyses of the results revealed a statistically significant difference in ENT exams related to the turbinate and the palatine tonsils. Group II presented a higher incidence of turbinate hypertrophy levels II and III (p < 0.001) and palatine tonsils hypertrophy grades III and IV (p 0.007). Regarding the auditory processing assessment, a statistically significant difference (p < 0.001) was obtained in the dichotic digits test. Group II performed worse than group III. Also, for the non-verbal sequence memory test, Group II obtained a worse result (p < 0.022) than Group I. CONCLUSIONS: Subjects with OSAS obtained worse results in auditory processing tests.

Sleep disorders frequency in post-polio syndrome patients caused by periodic limb movements

Post-polio syndrome (PPS) in individuals with polio longer than 15 years is characterized by weakness and/or muscle fatigue, deficit of deglutition and breath and periodic limb movements (PLM) during sleep. We undertook a review of 99 patients with PPS, and assessed the frequency of PLM through polysomnographic recordings at our sleep disorders unit. The total number of PLM, total time of sleep (TTS), efficiency of sleep (EfS), awaking index (AI) and apnea-hypopnea index (AHI) were analyzed. Sixteen patients presented PLM in excess of 5 for the entire night. When comparing these with the group without PLM, a correlation was found (p=0.001). Significant difference was found for the correlation of the parameters: IAH, ID, TTS and EfS when compared the two groups. There is a close relationship between PPS and PLM.

Post-polio syndrome: epidemiologic and prognostic aspects in Brazil

Objectives –  To describe the clinical and epidemiological aspects of post‐polio syndrome (PPS) and identify predictors of its severity.

Polisomnographic findings on children with laryngopathies

UNLABELLED Polysomnography is the goldstandard exam for child OSAS. When possible, polysomnography clearly distinguishes between those with isolated primary snoring and patients with sleep apnea (obstructive, central and mixed). The most common cause of OSAS in childhood is adenotonsillar hypertrophy. Laryngomalacia is the most common cause of stridor in childhood, though its physiopathology remains unknown. Among the most prominent theories are immaturity of the cartilaginous framework of the larynx and/or neuromuscular immaturity. OBJECTIVE Our proposal was to describe polysomnographic findings in children with laryngomalacia or other isolated laryngeal alterations, that is, without other alterations in the upper airways. METHODS The sample included 29 children with exclusively laryngeal alterations. All of them underwent an otorhinolaryngological exam, nasofibrolaryngoscopy and polysomnography. Information was recorded concerning age, nasofibrolaryngoscopy and polysomnography. For analysis, the children were divided into two groups: those with laryngomalacia and those with other laryngeal diseases. RESULTS Among the 18 children with a diagnosis of laryngomalacia, 18 had central breathing events, knowing that the majority had showed desaturation of oxihemoglobin and bradycardia. In this same group, 3 children had obstructive events. On the other hand, 11 children with other laryngeal alterations showed no predominance of one type or another of apnea. Of these, 4 had central type breathing events and 2 obstructive type. CONCLUSION The majority of patients with laryngomalacia showed a central type apnea. Patients with various laryngeal diseases did not present a predominant type of apnea.