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.

Influence of treadmill training on motor performance and organization of exploratory behavior in Meriones unguiculatus with unilateral ischemic stroke: histological correlates in hippocampal CA1 region and the neostriatum.

This study examined the effects of motor stimulation via treadmill on the behavior of male gerbils after external carotid ischemic brain lesion. The animals were assigned to five groups; ischemic with no stimulation (SIG), ischemic with stimulation (SIG 12/24/48/72h after surgery), non-ischemic with no stimulation (CC), non-ischemic with stimulation (CE) and sham, surgery without occlusion with no stimulation (SH). All the animals were tested in the open-field (OF) and rotarod (RR), 4 days after surgery in order to evaluate exploratory behaviors and motor performance. Data were submitted to one-way variance (ANOVA) and Dunnett's post hoc comparisons. SIG and SIG 12 groups showed a significant decrease in motor response (crossing) when compared to the control group (CC) (F=20.65, P<0.05) in the OF. SIG 12 group showed an increase in grooming behavior (F=23.136, P<0.05) and all ischemia groups (SIG, SIG12/24/48/72) spent less time on the RR (F=10.40, P<0.05), when compared to the control group (CC). Histological analyses show extensive lesions in the hippocampus and neostriatum for all groups with ischemia (SIG, SIG12/24/48/72), which are structures involved in the organization of motor behavior. Interestingly, the most pronounced damage was found in animals submitted to motor stimulation 12h after ischemia which can be correlated to the increased number of grooming behavior showed by them in the OF. These findings suggest that motor stimulation through treadmill training improve motor behavior after ischemia, except when it starts 12h after surgery.

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.

Auditory Middle Latency Responses: a study of healthy children.

AIM: To examine the components of auditory middle latency responses (AMLRs) in a sample of healthy children to establish their properties. METHODS: Thirty-two children of both genders aged between 10 to 13 years, with no neurological disorders, were included in the study. Data were analyzed statistically by descriptive statistics (mean + SD) and by analysis of variance using the F test. AMLRs were investigated with toneburst stimuli at 50, 60 and 70 dB HL. RESULTS AND CONCLUSIONS: The mean latencies of the components were Na = 20.79 ms, Pa = 35.34 ms, Nb = 43.27 ms, and Pb = 53.36 ms, in 70 dB HL. The mean values for the NaPa amplitude ranged from 0.2 to 1.9 mV (M = 1.0 mV). The amplitude increased and latency decreased with increasing sound intensity. Inclination of the NaPa wave complex was present in some cases, which deserves attention in similar studies or in children with speech, language and auditory processing difficulties. CONCLUSION: This study provides additional information about AMLRs and may be a reference for others clinical and experimental studies in children.

Approach to the fetal movements: a pilot study of six cases.

The aim of this study was to verify developmental aspects of fetal movements through 2D ultrasonic recordings of normal fetuses, product of low risk pregnancies. A qualitative analysis of the several types of movements was performed in a sample of six fetuses, each four weeks, from 12th to 40th gestational week. In the close period to 20th gestational week was registered the largest prevalence of movements. It was observed that certain movements disappear, and others stay or appear through period. Complex movements (breathing, deglutition and suction) were more frequent after the 20th week than before. In spite of the fetuses have presented a general motor pattern, individual variations were observed. These findings are in consonance with literature, toward the existence of certain motor patterns, with emergence and disappearance of the several types of movements according to the gestational age, and individual variations that suggest specificity.

[Investigation of neurodevelopment delay etiology: resources and challenges]. / Investigação das causas de atraso no neurodesenvolvimento: recursos e desafios.

To verify the reach of development delay investigation, we brought the experience in the pediatrics, infantile neurology and clinical genetics diagnoses, with resources of a tertiary health care, in 73 children, from 1 to 47 months age, between 1999 and 2001, attending a Stimulation Program of the Association of Parents and Friends of Exceptional Children of Batatais-SP. With a transversal and prospective method, six groups were identified: motor disturbances, dysmorphisms, malnutrition, macrocephaly, microcephaly and motor delay. In the analysis of the contribution of the antecedents, physical or laboratory exams to the diagnosis, it stands out the brain image in the groups "motor disturbances" and "macrocephaly"; and for the remaining groups, the physical examination and maternal data. The causes were detected in 48 (66%), being 38.4% of environmental and 24.6% genetics origin. It is emphasized the specialist evaluation, and the need of appropriate flow of information in the net of health.

Refractory epilepsy in children with brain tumors. The urgency of neurosurgery.

In order to verify indications for surgery, 27 patients with refractory epileptic seizures and brain tumor, aged up to 19 years at the time of surgery, were studied between 1996 and 2013 and followed up for at least one year. The mean interval between the onset of seizures and the diagnosis of the tumor was 3.6 years, and from diagnosis to the surgery, 18 months. The location of the tumor was in the temporal lobe in 16, with ganglioglioma and dysembryoplastic neuroepithelial tumors being the most frequent. Among the patients, 92.5% and 90.4% were seizure-free in the first and fifth year after surgery, respectively. Twelve of 16 children were successful in becoming drug-free, with complete withdrawal by 3.2 years. Surgery proved to be potentially curative and safe in these cases, suggesting that the tumor diagnosis and surgery cannot be postponed.

[Hyperammonemia secondary to the use of valproic acid: case report]. / Hiperamonemia secundária ao uso terapêutico de acido valpróico: relato de caso.

Valproic acid has been widely used for the treatment of epilepsy. Although it is usually well tolerated, it has been associated with some side effects. A poor studied side effect is the hyperammonemia, which independs from the drug hepatotoxic action. The hyperammonemia may occurs just after the beginning or during the treatment and is characterized by vomiting, progressive impairment of consciousness, focal neurologic signs and increased seizure frequency. We report boy a 6 year-old boy who presented with hyperammonemia during the use of valproic acid within the therapeutic range. Complementary investigation was negative for aminoacidopathy, organic acidemia and urea cycle disorders. The hypothesis of secondary effect to the valproic acid was reinforced by the normalization of ammonia levels after drug withdrawal. The pathogenesis of valproate-induced hyperammonemia have been discussed. We conclude that routine monitoring of ammonia blood concentration are strongly recommended in patients under valproic acid treatment.

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.

Auditory Middle Latency Response and Phonological Awareness in Students with Learning Disabilities.

Introduction Behavioral tests of auditory processing have been applied in schools and highlight the association between phonological awareness abilities and auditory processing, confirming that low performance on phonological awareness tests may be due to low performance on auditory processing tests. Objective To characterize the auditory middle latency response and the phonological awareness tests and to investigate correlations between responses in a group of children with learning disorders. Methods The study included 25 students with learning disabilities. Phonological awareness and auditory middle latency response were tested with electrodes placed on the left and right hemispheres. The correlation between the measurements was performed using the Spearman rank correlation coefficient. Results There is some correlation between the tests, especially between the Pa component and syllabic awareness, where moderate negative correlation is observed. Conclusion In this study, when phonological awareness subtests were performed, specifically phonemic awareness, the students showed a low score for the age group, although for the objective examination, prolonged Pa latency in the contralateral via was observed. Negative weak to moderate correlation for Pa wave latency was observed, as was positive weak correlation for Na-Pa amplitude.

P300 in individuals with sensorineural hearing loss.

INTRODUCTION: Behavioral and electrophysiological auditory evaluations contribute to the understanding of the auditory system and of the process of intervention. OBJECTIVE: To study P300 in subjects with severe or profound sensorineural hearing loss. METHODS: This was a descriptive cross-sectional prospective study. It included 29 individuals of both genders with severe or profound sensorineural hearing loss without other type of disorders, aged 11 to 42 years; all were assessed by behavioral audiological evaluation and auditory evoked potentials. RESULTS: A recording of the P3 wave was obtained in 17 individuals, with a mean latency of 326.97ms and mean amplitude of 3.76V. There were significant differences in latency in relation to age and in amplitude according to degree of hearing loss. There was a statistically significant association of the P300 results with the degrees of hearing loss (p=0.04), with the predominant auditory communication channels (p<0.0001), and with time of hearing loss. CONCLUSIONS: P300 can be recorded in individuals with severe and profound congenital sensorineural hearing loss; it may contribute to the understanding of cortical development and is a good predictor of the early intervention outcome.

Detection of organic acidemias in Brazil.

BACKGROUND: Organic acidurias or organic acidemias are inherited metabolic disorders in which organic acids (carboxylic acids) accumulate in tissues and physiologic fluids of affected individuals. They are considered the most frequent metabolic disorders among severely ill children. Patients frequently present acute symptoms in early life. Metabolic acidosis and neurologic symptoms are the most common signs. METHODS: Urine specimens obtained from 1,926 children from January 1994 to July 2001 were used in analyses. Venous blood specimens were also collected from some patients. Samples were initially submitted to screening tests for detection of inborn errors of metabolism. Identification and semi-quantitation of organic acids in urine were performed by gas chromatography or gas chromatography coupled to mass spectrometry using capillary column (DB-5) and flame ionization detection. RESULTS: Ninety three (4.8%) cases of organic acidemias were diagnosed among 1,926 patients investigated from January 1994 to July 2001. Prompt therapy was instituted after diagnosis in a considerable number of patients and resulted in rapid improvement in their symptomatology, distinct from our previous cases diagnosed abroad where patients representing index cases died before any measure could be taken. CONCLUSIONS: Results demonstrate the importance of diagnosing organic acidurias in loco in developing countries despite implied extra costs.

[Evaluation of some aspects of the acquisition and development of language in pre-term born children]. / Avaliação de alguns aspectos da aquisição e desenvolvimento da linguagem de crianças nascidas pré-termo.

The correction of the age of pre-term infants for the motor evaluation has been the accepted practice but it has not been clear in other areas. This study compared indicators of the acquisition and development of language, considering corrected and chronological ages. Twenty healthy infants born between the 28th and 36th week of gestation (median 32 weeks), weighing 800g to 2380g (median 1590g), 9 AGA and 11 SGA, were followed up to 15 months age. As a reference for normality, evaluation of Costa et al. (1992) was used, which groups predictable behavior in 5 levels. For receptive language, considering the chronological age, normal performance occurred at all levels except for Level I (0-3 months). For expressive language, considering the chronological age, 6 (12%) of the 50 evaluations showed normal performance. With their age corrected, in 16 evaluations (40%) the infants achieved the expected level, mainly at 6 and 12 months age. On the whole, for the chronological age, there was a larger number of AGA with normal performance (p<0.05). We conclude that with the use of the Costa method, it was unnecessary to correct the age for receptive language evaluation, and that, for the expressive, the high frequency of normal results at the corrected ages for 6 and 12 months, suggests that these ages constitute periods of intensification of vigilance.

Cerebral infarct in children aged zero to fifteen years.

Cerebral infarcts in children present peculiar characteristics either due to their diversity of causes or due to the unknown nature of the causes. The etiologies of cerebral infarct were reviewed in children from zero to 15 years old, attended at a tertiary hospital, in Ribeirão Preto (Brazil), from 1990 to 1997, adopting the modified Trial of ORG 10172 in Acute Stroke Treatment (TOAST) criteria of classification; 1-Atherosclerosis in large arteries; 2-Cardioembolic; 3-Occlusion of small vessels; 4-Other etiologies; 5-Undetermined cause. Thirty-nine children were included, 18 males and 21 females, aged 2 months to 15 years, mean age 5.67. The largest group, N=22 (56.4%), included children with "other etiologies", 7 of them aged under two years. The most common etiology was dehydration and septic shock leading to brain hypoperfusion and watershed infarcts. Nine (23%) children had "Undetermined etiology", 7 (17.9%) cardioembolic subtype and none had atherosclerosis. Laboratory improvement is needed for the large number of patients without a defined cause, and the high proportion of children with dehydration in the group with a determined cause emphasizes the need for preventive health actions among infants and children.

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.

Auditory middle latency response in children with learning difficulties.

INTRODUCTION: This is an objective laboratory assessment of the central auditory systems of children with learning disabilities. AIM: To examine and determine the properties of the components of the Auditory Middle Latency Response in a sample of children with learning disabilities. METHODS: This was a prospective, cross-sectional cohort study with quantitative, descriptive, and exploratory outcomes. We included 50 children aged 8-13 years of both genders with and without learning disorders. Those with disorders of known organic, environmental, or genetic causes were excluded. RESULTS AND CONCLUSIONS: The Na, Pa, and Nb waves were identified in all subjects. The ranges of the latency component values were as follows: Na = 9.8-32.3 ms, Pa = 19.0-51.4 ms, Nb = 30.0-64.3 ms (learning disorders group) and Na = 13.2-29.6 ms, Pa = 21.8-42.8 ms, Nb = 28.4-65.8 ms (healthy group). The values of the Na-Pa amplitude ranged from 0.3 to 6.8 ìV (learning disorders group) or 0.2-3.6 ìV (learning disorders group). Upon analysis, the functional characteristics of the groups were distinct: the left hemisphere Nb latency was longer in the study group than in the control group. Peculiarities of the electrophysiological measures were observed in the children with learning disorders. This study has provided information on the Auditory Middle Latency Response and can serve as a reference for other clinical and experimental studies in children with these disorders.

Three-year-old child with meroacrania - neurological signs.

Neurological findings in a three-year-old child with meroacrania provide new insights into how the nervous system develops and functions in the absence of superior levels of control from the time of origin. The girl is the first child of a non-consanguineous white Brazilian couple, born at term, weighing 2650 g and measuring 44 cm in length. Upon examination at 43 months, she had quadriplegia, global hypotonia with occasional body hypertonia in a decorticate posture, hyperreflexia, ankle clonus, and extensor plantar response. This case allowed us to verify that, in the absence of upper structures and subcortical nuclei, there are clear signs that suggest corticospinal primacy in motor functions without a substitute pathway. Sound orientation responses suggest the independence of the vestibular-acoustic-ocular system, and manifestations of responsiveness to the environment raise questions about consciousness.

Refractory epilepsy in children with brain tumors. The urgency of neurosurgery / Epilepsia refratária em crianças com tumores cerebrais. A urgência de neurocirurgia

ABSTRACT In order to verify indications for surgery, 27 patients with refractory epileptic seizures and brain tumor, aged up to 19 years at the time of surgery, were studied between 1996 and 2013 and followed up for at least one year. The mean interval between the onset of seizures and the diagnosis of the tumor was 3.6 years, and from diagnosis to the surgery, 18 months. The location of the tumor was in the temporal lobe in 16, with ganglioglioma and dysembryoplastic neuroepithelial tumors being the most frequent. Among the patients, 92.5% and 90.4% were seizure-free in the first and fifth year after surgery, respectively. Twelve of 16 children were successful in becoming drug-free, with complete withdrawal by 3.2 years. Surgery proved to be potentially curative and safe in these cases, suggesting that the tumor diagnosis and surgery cannot be postponed.

RESUMO A fim de verificar os aspectos da indicação cirúrgica, vinte e sete pacientes com epilepsia refratária secundária a tumor cerebral, com idade de até 19 anos na cirurgia, operados entre 1996 e 2013 e seguidos por pelo menos um ano, foram estudados. O intervalo médio entre o início das crises e o diagnóstico do tumor foi de 3,6 anos, e deste para a cirurgia, 18 meses. A localização do tumor foi lobo temporal em 16, sendo ganglioglioma e DNET os tipos mais frequentes. Entre os pacientes, 92,5% e 90,4% estavam livres de crises no primeiro e no quinto ano após a cirurgia, respectivamente. Doze de 16 crianças obtiveram sucesso na retirada de drogas, com a média de tempo de 3,2 anos após o procedimento. A cirurgia provou ser potencialmente curativa e segura nestes casos, o que sugere que perante o diagnóstico de tumor esta não pode ser adiada.

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. .

Auditory Middle Latency Response and Phonological Awareness in Students with Learning Disabilities

Introduction Behavioral tests of auditory processing have been applied in schools and highlight the association between phonological awareness abilities and auditory processing, confirming that low performance on phonological awareness tests may be due to low performance on auditory processing tests. Objective To characterize the auditory middle latency response and the phonological awareness tests and to investigate correlations between responses in a group of children with learning disorders. Methods The study included 25 students with learning disabilities. Phonological awareness and auditory middle latency response were tested with electrodes placed on the left and right hemispheres. The correlation between the measurements was performed using the Spearman rank correlation coefficient. Results There is some correlation between the tests, especially between the Pa component and syllabic awareness, where moderate negative correlation is observed. Conclusion In this study, when phonological awareness subtests were performed, specifically phonemic awareness, the students showed a low score for the age group, although for the objective examination, prolonged Pa latency in the contralateral via was observed. Negative weak tomoderate correlation for Pa wave latency was observed, as was positive weak correlation for Na-Pa amplitude.(AU)