ERASMO BARBANTE CASELLA
Projetos de Pesquisa
Unidades Organizacionais
Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina - Médico
15 resultados
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- Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization(2022) GURGEL-GIANNETTI, Juliana; SOUZA, Lucas Santos; YAMAMOTO, Guilherme L.; BELISARIO, Marina; LAZAR, Monize; CAMPOS, Wilson; PAVANELLO, Rita de Cassia M.; ZATZ, Mayana; REED, Umbertina; ZANOTELI, Edmar; OLIVEIRA, Acary Bulle; LEHTOKARI, Vilma-Lotta; CASELLA, Erasmo B.; MACHADO-COSTA, Marcela C.; WALLGREN-PETTERSSON, Carina; LAING, Nigel G.; NIGRO, Vincenzo; VAINZOF, MarizNemaline myopathy (NM), a structural congenital myopathy, presents a significant clinical and genetic heterogeneity. Here, we compiled molecular and clinical data of 30 Brazilian patients from 25 unrelated families. Next-generation sequencing was able to genetically classify all patients: sixteen families (64%) with mutation in NEB, five (20%) in ACTA1, two (8%) in KLHL40, and one in TPM2 (4%) and TPM3 (4%). In the NEB-related families, 25 different variants, 11 of them novel, were identified; splice site (10/25) and frame shift (9/25) mutations were the most common. Mutation c.24579 G>C was recurrent in three unrelated patients from the same region, suggesting a common ancestor. Clinically, the ""typical"" form was the more frequent and caused by mutations in the different NM genes. Phenotypic heterogeneity was observed among patients with mutations in the same gene. Respiratory involvement was very common and often out of proportion with limb weakness. Muscle MRI patterns showed variability within the forms and genes, which was related to the severity of the weakness. Considering the high frequency of NEB mutations and the complexity of this gene, NGS tools should be combined with CNV identification, especially in patients with a likely non-identified second mutation.
- Combining neuropsychological tests to improve the assessment of arithmetic difficulties in children with ADHD(2020) REZENDE, Angelo R. T.; PACHECO, Sandra P.; BRANCO, Sulamy C. C.; FERNANDES, Rosangela D. C.; BOLDRINI, Carla R.; DORIA FILHO, Ulysses; BAZAN, Paulo R.; AMARO JUNIOR, Edson; REED, Umbertina Conti; CASELLA, Erasmo BarbanteObjective: To compare the ways of evaluating arithmetic skills in Brazilian children with ADHD by combining three validated neuropsychological tests and determining whether they are sensitive to the methylphenidate treatment. Methods: Forty-two children (9-12 years old) participated in the present study: 20 were children with ADHD (DSM-IV) and 22 were age-matched controls. A classification criterion was used for each test separately and one,fortheir combination to detect the presence of arithmetic difficulties at two time points: baseline (time 1); and when children with ADHD were taking 0.3-0.5 mg/kg of methylphenidate (time 2). The study also assessed children's subtraction performance, combining parts of these tests. Results: Separately, the tests were only sensitive to differences between groups without medication. However, by combining the three neuropsychological tests, we observed a difference and detected a reduction in arithmetic difficulties associated with the methylphenidate treatment. The same effects were found in subtraction exercises, which require a borrowing procedure. Conclusions: The present study detected arithmetic difficulties in Brazilian children with ADHD and the effects of methylphenidate. Given this improvement in sensitivity, combining tests could be a promising alternative when working with limited samples.
- Seizures in self-limited epilepsy with centrotemporal spikes: video-EEG documentation(2020) FERRARI-MARINHO, Taissa; HAMAD, Ana Paula Andrade; CASELLA, Erasmo Barbante; YACUBIAN, Elza Marcia Targas; CABOCLO, Luis OtavioPurpose Self-limited epilepsy with centrotemporal spikes, formerly called benign epilepsy with centrotemporal spikes, or rolandic epilepsy, is an age-related and well-defined epileptic syndrome. Since seizures associated with rolandic spikes are infrequent and usually occur during sleep, and repetitive or prolonged EEG recording for diagnostic purposes is not necessary for diagnosis, reports of ictal video-electroencephalographic seizures in this syndrome are rare. We aimed to show ictal video-EEG of typical rolandic seizures. Methods We report the ictal video-EEG recordings of two children with rolandic epilepsy who presented typical rolandic seizures during routine recording. Results Case 1: A 9-year-old boy, with normal development, had his first seizure at 8 years old, characterized by paresthesia in his left face, blocking of speech, and drooling. Carbamazepine was started with seizure control. Case 2: A 10-year-old boy, with normal development, started with focal seizures during sleep, characterized by eye and perioral deviation, and speech arrest at age of 7. He started using oxcarbazepine. Both patients underwent routine electroencephalography for electroclinical diagnosis and presented a seizure. Conclusion Although self-limited epilepsy with centrotemporal spikes is a very common epileptic syndrome, seizure visualization is very difficult, and these videos may bring didactical information for recognition of this usual presentation of benign childhood focal epilepsy.
- Brazilian Portuguese Childhood Autism Spectrum Test an investigation of the factor structure of autistic traits in school-aged children(2022) RIBEIRO, Tatiane Cristina; FARHAT, Luis C.; CASELLA, Erasmo B.; GRAEFF-MARTINS, Ana Soledade; BARON-COHEN, Simon; ALLISON, Carrie; POLANCZYK, Guilherme V.Objective: There is limited evidence about the cross-cultural validity of autistic symptoms in schoolaged children in Brazil. We used data from a large school survey to evaluate the factor structure of autism symptoms in community-dwelling children and adolescents. Methods: We translated the Childhood Autism Spectrum Test to Brazilian Portuguese and performed factor analyses to investigate the factor structure of parent-reported autistic symptoms in a large sample (n=8,571) of children/adolescents from a school survey in the metropolitan area of Sa similar to o Paulo. Results: Autistic symptoms were best conceptualized under a correlated-factors model with two factors: one predominantly characterized by social-communication symptoms and the other by symptoms of inflexible/restricted language, behaviors, and interests. Conclusions: These findings provide evidence that the structure of autistic symptoms in Brazil is similar to that described in other countries, indicating the cross-cultural validity of autism in Brazil.
- Validation of the Expression and Emotion Scale for Children with attention deficit hyperactivity disorder into Brazilian Portuguese(2017) SIMON, Margarete Andreozzi Vaz Pereira; REED, Umbertina Conti; VAUGHAN, Brigette; SIMON, Valdecir Antonio; CASELLA, Erasmo BarbanteObjective: To validate the parent-rated Expression and Emotion Scale for Children (EESC) for patients with attention-deficit/ hyperactivity disorder (ADHD). Methods: The EESC was applied to parents of children with and without ADHD. The children were divided into age groups: Group A, between six and eight years old; Group B, between nine and 11 years old; and Group C, between 12 and 15 years old. The validation was carried out according to the steps proposed by Guillemin et al. For the statistical calculation, Cronbach's alpha, Pearson's correlation, the ICC and ROC curve were used. Results: The statistical tests showed satisfactory coefficients: Cronbach's alpha = 0.76; Pearson's correlation r = 0.91 with CI 95%; replicability ICC = 0.66; sensitivity 0.75; specificity 0.67; accuracy 71%. Conclusion: According to psychometric data on internal and external consistency (reliability, reproducibility), sensitivity, and specificity, the parent-rated EESC for ADHD is useful in assessing emotional expression.
article 19 Citação(ões) na Scopus Quality of life and psychomotor profile of children with attention deficit hyperactivity disorder (ADHD)(2011) GOULARDINS, Juliana Barbosa; MARQUES, Juliana Cristina Fernandes Bilhar; CASELLA, Erasmo BarbanteThe knowledge of psychomotor development of children with attention deficit hyperactivity disorder (ADHD) may help in defining therapeutic approaches in order to minimize losses in their quality of life. The study objectives were to evaluate the quality of life and psychomotor profile of children with ADHD and check your correlation. Fourteen children, from seven to ten years, with ADHD combined type were evaluate using the scales PedsQL (TM) and Motor Development Scale. Results showed adverse effects of ADHD on quality of life and a deficit in motor skills. Nine participants (64.2%) were classified in motor development as ""Normal Medium"", followed by the classification ""Normal Low"" in four (28.5%) and ""Low"" in one subject (7.1%). We observed a positive correlation between quality of life and psychomotor development of children with ADHD, especially in areas: fine motor and spatial organization with social and psychosocial aspects, gross motor control with the emotional and temporal organization with the emotional, psychosocial and overall quality of life.- Desempenho ortográfico de escolares com dislexia do desenvolvimento e com dislexia do desenvolvimento associado ao transtorno do déficit de atenção e hiperatividade(2016) ALVES, Débora Cristina; CASELLA, Erasmo Barbante; FERRARO, Alexandre ArcanjoABSTRACT Purpose to analyze and classify the spelling performance according to the semiology of spelling error of children with developmental dyslexia (DD) and with developmental dyslexia associated to attention deficit disorder and hyperactivity(DD and ADHD) comparing them to a group of children without learning process complaints. Methods Seventy students, from the third to fifth grade, participated in this study divided as follows: 32 children without complaints of learning difficulties (GI), mean age 9.5 years; 22 students with developmental dyslexia (GII), mean age 10 years; 16 scholars with developmental dyslexia associated to attention deficit disorders and hyperactivity (GIII), mean age 9.9. Spelling skills were assessed through a standardized word dictation task. Results Data indicated that GII and GIII children presented lower performance when compared with typically developed children. There was no statistical difference between the performance of GII and GIII children regarding the score reached in spelling, although GIII children presented the lowest performance. We observed differences between GII and GIII only in the type of misspelling. Conclusion Data from this research contribute to develop better programs for intervention in the studied population.
- Motor profile of children with attention deficit hyperactivity disorder, combined type(2013) GOULARDINS, Juliana B.; MARQUES, Juliana C. Bilhar; CASELLA, Erasmo B.; NASCIMENTO, Roseane O.; OLIVEIRA, Jorge A.Objectives: The aim of this study was to assess the motor profile of children with attention deficit hyperactivity disorder (ADHD), combined type. Method: The case group consisted of 34 treatment-naive, male patients, aged 7-11 years, who had been diagnosed with ADHD, combined type, without comorbidities (except oppositional defiant disorder). The control group was composed of 32 age- and gender-matched, typically developing children. The evaluation was made using the Motor Development Scale, which assessed global and fine motricity, balance, body scheme, and spatial and temporal organization. Results: The results showed that the motor quotients in all areas studied were lower in the ADHD group than in the control group, although in most cases they represent normal values relative to the scale (53% were classified as having ""normal medium"" motor development, 29% ""normal low"", 9% ""very low"", 6% ""normal high"" and 3% as ""lower""). Statistically significant differences between groups were observed in general motor age, general motor quotient, balance, spatial organization, and fine and global motricity. Conclusion: Difficulties in motor performance were observed in the children with ADHD, combined type. The identification of such deficits may assist in the design of therapeutic protocols for the treatment of children with this type of ADHD.
- ADHD and autism symptoms in youth: a network analysis(2022) FARHAT, Luis C.; BRENTANI, Helena; TOLEDO, Victor Hugo Calegari de; SHEPHARD, Elizabeth; MATTOS, Paulo; BARON-COHEN, Simon; THAPAR, Anita; CASELLA, Erasmo; POLANCZYK, Guilherme V.Background Previous research investigating the overlap between attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (henceforth, autism) symptoms in population samples have relied on latent variable modeling in which averaged scores representing dimensions were derived from observed symptoms. There are no studies evaluating how ADHD and autism symptoms interact at the level of individual symptom items. Methods We aimed to address this gap by performing a network analysis on data from a school survey of children aged 6-17 years old (N = 7,405). ADHD and autism symptoms were measured via parent-report on the Swanson, Nolan, Pelham-IV questionnaire and the Childhood Autism Spectrum test, respectively. Results A relatively low interconnectivity between ADHD and autism symptoms was found with only 10.06% of possible connections (edges) between one ADHD and one autism symptoms different than zero. Associations between ADHD and autism symptoms were significantly weaker than those between two symptoms pertaining to the same construct. Select ADHD symptoms, particularly those presenting in social contexts (e.g. 'talks excessively', 'does not wait turn'), showed moderate-to-strong associations with autism symptoms, but some were considered redundant to autism symptoms. Conclusions The present findings indicate that individual ADHD and autism symptoms are largely segregated in accordance with diagnostic boundaries corresponding to these conditions in children and adolescents from the community. These findings could improve our clinical conceptualization of ADHD and autism and guide advancements in diagnosis and treatment.
- Early role for a Na+,K+-ATPase (ATP1A3) in brain development(2021) SMITH, Richard S.; FLORIO, Marta; AKULA, Shyam K.; NEIL, Jennifer E.; WANG, Yidi; HILL, R. Sean; GOLDMAN, Melissa; MULLALLY, Christopher D.; REED, Nora; BELLO-ESPINOSA, Luis; FLORES-SARNAT, Laura; MONTEIRO, Fabiola Paoli; ERASMO, Casella B.; PINTO, Filippo; MORAVA, Eva; BARKOVICH, A. James; GONZALEZ-HEYDRICH, Joseph; BROWNSTEIN, Catherine A.; MCCARROLL, Steven A.; WALSH, Christopher A.Osmotic equilibrium and membrane potential in animal cells depend on concentration gradients of sodium (Na+) and potassium (K+) ions across the plasma membrane, a function catalyzed by the Na+,K+-ATPase alpha-subunit. Here, we describe ATP1A3 variants encoding dysfunctional alpha 3-subunits in children affected by polymicrogyria, a developmental malformation of the cerebral cortex characterized by abnormal folding and laminar organization. To gain cell-biological insights into the spatiotemporal dynamics of prenatal ATP1A3 expression, we built an ATP1A3 transcriptional atlas of fetal cortical development using mRNA in situ hybridization and transcriptomic profiling of similar to 125,000 individual cells with single-cell RNA sequencing (Drop-seq) from 11 areas of the midgestational human neocortex. We found that fetal expression of ATP1A3 is most abundant to a subset of excitatory neurons carrying transcriptional signatures of the developing subplate, yet also maintains expression in nonneuronal cell populations. Moving forward a year in human development, we profiled -52,000 nuclei from four areas of an infant neocortex and show that ATP1A3 expression persists throughout early postnatal development, most predominantly in inhibitory neurons, including parvalbumin inter neurons in the frontal cortex. Finally, we discovered the heteromeric Na+,K+-ATPase pump complex may form nonredundant cell-type-specific alpha-beta isoform combinations, including alpha 3-beta 1 in excitatory neurons and alpha 3-beta 2 in inhibitory neurons. Together, the developmental malformation phenotype of affected individuals and single-cell ATP1A3 expression patterns point to a key role for alpha 3 in human cortex development, as well as a cell-type basis for pre- and postnatal ATP1A3-associated diseases.