Clarissa Bueno

@usp.br

Child Neurology Department
Clinical Hospital of the Faculty of Medicine of the University of São Paulo

Clarissa Bueno


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https://researchid.co/clarissa.bueno

EDUCATION

Graduation in Medicine: Faculty of Medicine of the University of São Paulo
Pediatrics Training: Clinical Hospital of the Faculty of Medicine of the University of São Paulo
Child Neurology Training: Clinical Hospital of the Faculty of Medicine of the University of São Paulo
PhD in Physiology: Institute of Biomedical Sciences of the University of São Paulo

RESEARCH INTERESTS

Child Neurology
Inborn Errors of Metabolism
Biological Rhythms
27

Scopus Publications

Scopus Publications

  • Sleep and Rhythmic Profile After Pineal Gland Removal in Humans
    Journal of Sleep Research, 2026
  • Sleep Impairment and Chronic Pain in the Military: A Scoping Review
    Eline Rozária Ferreira Barbosa, Desiree Rodrigues da Veiga, Mayra Gabriela Ayala, Ivan Dunshee de A. O. Santos Filho, Andrea Suarez Gomez, et al.
    Journal of Sleep Research, 2026
    This scoping review explores the bidirectional association between chronic pain and sleep disorders in military personnel. It aims to identify gaps in existing studies, offering tools for diagnosing and treating sleep disorders, chronic pain, and their comorbidities. Observational and interventional studies up to 2024 that approached the relationship between chronic pain and sleep disorders were included. Furthermore, PTSD, anxiety, depression, alcohol consumption, suicidal ideation and drug abuse were considered covariables. Cancer‐related or acute pain and studies primarily addressing sleep apnoea or traumatic brain injury were excluded. A systematic search was conducted in ScienceDirect, PubMed, Scopus, Embase, Web of Science and Google Scholar until April 2024. Articles were screened using Covidence by two independent researchers, and bias was assessed using the Newcastle Ottawa Scale, ROBINS‐I and ROB‐2. Sixteen articles analysed data from 15,060 active military personnel or veterans. Overall, studies endorsed the association between sleep quality and chronic pain and their influence on mental health, physical functioning and quality of life. Additionally, behavioural, mind–body and circadian misalignment therapies, along with other nonpharmacologic interventions, positively impacted outcomes related to pain, sleep quality, and psychiatric comorbidities. However, there was heterogeneity in the use of diagnostic tools, non‐standardised procedures, and a lack of guidelines in the treatment of these conditions. The construct of sleep disorders, chronic pain and associated comorbidities was shown to improve with nonpharmacologic and integrative interventions that addressed at least one of these conditions.
  • Trigger points of palliative care assessment in inherited metabolic diseases
    Gustavo Marquezani Spolador, Rita Tiziana Verardo Polastrini, Ivete Zoboli, Ana Cristina Henrique, Elaine Freitas, et al.
    Orphanet Journal of Rare Diseases, 2025
  • Pediatric palliative care for metabolic diseases: 20-year epidemiological survey of outpatients at a Brazilian quaternary hospital
    Gustavo Marquezani Spolador, Clarissa Bueno, Rita Tiziana Verardo Polastrini, Ivete Zoboli, Ana Cristina Henrique, et al.
    Jimd Reports, 2024
    The interface between pediatric palliative care (PPC) and inborn metabolic diseases (IMD) remains incipient, though these conditions fill the state of art of complex chronic diseases, eligible to this health approach. We analyzed the medical records of PPC clinic during the years 2001 to 2021 and the IMD outpatients. We established a parallel with the world scientific literature concerning the epidemiology of PPC and IMD. Among outpatients, 14% were diagnosed with IMD, which were referred to the PPC service earlier compared to Non‐IMD cases. The Group 3 (complex molecules) was the most frequent (64.7%), following by Group 1 representing by small molecules (21.6%), the latter having a lower median age at diagnosis when compared to the former (0.7 vs. 5.2 years, p = 0.001). The sphingolipidoses were the pathologies most frequent in our cohort, in line with what was observed in the literature. There were no differences between IMD groups in terms of diagnosis and PPC referral age, however in Non‐IMD conditions, the age of diagnosis were earlier than IMD. Nevertheless, IMD group showed lower age of referral to PPC. The IMD comprises large fraction of outpatients in the PPC setting, thus further studies are needed in this field.
  • Sleep bruxism and associated physiological events in children with obstructive sleep apnea: a polysomnographic study
    Carlos F. Bonacina, Leticia M.S.F.A. Soster, Clarissa Bueno, Joaquina S. Diniz, Maria F. Bozzini, et al.
    Journal of Clinical Sleep Medicine, 2024
    STUDY OBJECTIVES The aim of this study was to evaluate the physiological events associated with sleep bruxism (SB; presence of mandibular movement activity) and control window (4 minutes prior to SB event, where no mandibular movement activity was detected) in polysomnography study (PSG) in children with mild sleep apnea. METHODS PSG exams data from 4 to 9 years old children diagnosed with mild sleep apnea were analyzed by two trained examiners. The mandibular movement activity (bruxism event; SB) were classified into phasic and tonic. The control window was selected 4 minutes prior to the SB event. All physiological events were recorded in both bruxism and control windows, including sleep phase (N1, N2, N3 and REM), arousal, leg movements, tachycardia, bradycardia, oxygen desaturation and number of obstructive and central sleep apnea events. The moment in which those phenomena occurred when associated with SB was also analyzed (before/after). Data was analyzed using a 95% CI (α=5%). RESULTS A total of 661 mandibular movements were analyzed and classified as tonic (n=372) or phasic (n=289). The mean apnea-hypopnea index (AHI) was 1.99 (SD=1.27). The frequency of leg movements, microarousal and tachycardia were increased in BS events when compared to the control window (p<0.05). There was an increase in bradycardia frequency in the control window when compared to BS (in both tonic and phasic events). The frequency of obstructive and central apnea and central apnea during SB were lower when compared to the other physiological phenomena. CONCLUSIONS There is a difference in the physiological parameters evaluated in children with mild sleep apnea when comparing the two windows (SB and control). Sleep bruxism is associated with other physiological phenomena such as leg movements, tachycardia and microarousal. The use of a control window (where no mandibular activity was detected) was representative since it did not show activation of the sympathetic nervous system.
  • Subacute Partially Reversible Leukoencephalopathy Expands the Aicardi–Goutières Syndrome Phenotype
    Isabella Peixoto de Barcelos, Clarissa Bueno, Luís Filipe S. Godoy, André Pessoa, Larissa A. Costa, et al.
    Brain Sciences, 2023
    Objective: To report a series of atypical presentations of Aicardi–Goutières syndrome. Methods: Clinical, neuroimaging, and genetic data. Results: We report a series of six unrelated patients (five males) with a subacute loss of developmental milestones, pyramidal signs, and regression of communication abilities, with onset at ages ranging from 7 to 20 months, reaching a nadir after 4 to 24 weeks. A remarkable improvement of lost abilities occurred in the follow-up, and they remained with residual spasticity and dysarthria but preserved cognitive function. Immunization or febrile illness occurred before disease onset in all patients. CSF was normal in two patients, and in four, borderline or mild lymphocytosis was present. A brain CT scan disclosed a subtle basal ganglia calcification in one of six patients. Brain MRI showed asymmetric signal abnormalities of white matter with centrum semi-ovale involvement in five patients and a diffuse white matter abnormality with contrast enhancement in one. Four patients were diagnosed and treated for acute demyelinating encephalomyelitis (ADEM). Brain imaging was markedly improved with one year or more of follow-up (average of 7 years), but patients remained with residual spasticity and dysarthria without cognitive impairment. Demyelination relapse occurred in a single patient four years after the first event. Whole-exome sequencing (WES) was performed in all patients: four of them disclosed biallelic pathogenic variants in RNASEH2B (three homozygous p.Ala177Thr and one compound heterozygous p.Ala177Thr/p.Gln58*) and in two of them the same homozygous deleterious variants in RNASEH2A (p.Ala249Val). Conclusions: This report expands the phenotype of AGS to include subacute developmental regression with partial clinical and neuroimaging improvement. Those clinical features might be misdiagnosed as ADEM.
  • BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening
    Trine Tangeraas, Juliana R Constante, Paul Hoff Backe, Alfonso Oyarzábal, Julia Neugebauer, et al.
    Brain, 2023
    There are few causes of treatable neurodevelopmental diseases described to date. Branched-chain ketoacid dehydrogenase kinase (BCKDK) deficiency causes branched-chain amino acid (BCAA) depletion and is linked to a neurodevelopmental disorder characterized by autism, intellectual disability and microcephaly. We report the largest cohort of patients studied, broadening the phenotypic and genotypic spectrum. Moreover, this is the first study to present newborn screening findings and mid-term clinical outcome. In this cross-sectional study, patients with a diagnosis of BCKDK deficiency were recruited via investigators’ practices through a MetabERN initiative. Clinical, biochemical and genetic data were collected. Dried blood spot (DBS) newborn screening (NBS) amino acid profiles were retrieved from collaborating centres and compared to a healthy newborn reference population. Twenty-one patients with BCKDK mutations were included from 13 families. Patients were diagnosed between 8 months and 16 years (mean: 5.8 years, 43% female). At diagnosis, BCAA levels (leucine, valine and isoleucine) were below reference values in plasma and in CSF. All patients had global neurodevelopmental delay; 18/21 had gross motor function (GMF) impairment with GMF III or worse in 5/18, 16/16 intellectual disability, 17/17 language impairment, 12/17 autism spectrum disorder, 9/21 epilepsy, 12/15 clumsiness, 3/21 had sensorineural hearing loss and 4/20 feeding difficulties. No microcephaly was observed at birth, but 17/20 developed microcephaly during follow-up. Regression was reported in six patients. Movement disorder was observed in 3/21 patients: hyperkinetic movements (1), truncal ataxia (1) and dystonia (2). After treatment with a high-protein diet (≥ 2 g/kg/day) and BCAA supplementation (100–250 mg/kg/day), plasma BCAA increased significantly (P &amp;lt; 0.001), motor functions and head circumference stabilized/improved in 13/13 and in 11/15 patients, respectively. Among cases with follow-up data, none of the three patients starting treatment before 2 years of age developed autism at follow-up. The patient with the earliest age of treatment initiation (8 months) showed normal development at 3 years of age. NBS in DBS identified BCAA levels significantly lower than those of the normal population. This work highlights the potential benefits of dietetic treatment, in particular early introduction of BCAA. Therefore, it is of utmost importance to increase awareness about this treatable disease and consider it as a candidate for early detection by NBS programmes.
  • Editorial: Melatonin and biological rhythms: from bench to bedside
    Clarissa Bueno, Fernanda Gaspar do Amaral, Karen Spruyt
    Frontiers in Neuroscience, 2023
    COPYRIGHT © 2023 Bueno, Amaral and Spruyt. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. Editorial: Melatonin and biological rhythms: from bench to bedside
  • Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia
    Fernando Freua, Mariana Espíndola de Castro Almeida, Paulo Ribeiro Nóbrega, Anderson Rodrigues Brandáo de Paiva, Bruno Della-Ripa, et al.
    Cold Spring Harbor Molecular Case Studies, 2022
    Introduction: Argininemia or arginase deficiency is a metabolic disorder caused by pathogenic variants in ARG1 and consists of a variable association of progressive spastic paraplegia, intellectual disability, and seizures. Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive gait disorder characterized by lower limb spasticity. This study presents 7 patients with arginase 1 deficiency from 6 different families, all with an initial diagnosis of complicated HSP. Methods: We evaluated the clinical data of 7 patients belonging to six independent families who were diagnosed with hyperargininemia in a neurogenetics outpatient clinic. Results: All patients had lower limb spasticity and six had global developmental delay. Five individuals had intellectual disability and two had epilepsy. Psychiatric abnormalities were seen in two patients. In two participants of this study, MRI disclosed thinning of the corpus callosum. Molecular diagnosis was made by whole exome sequencing. All variants were present in homozygosis; we identified two novel missense variants, one novel frameshift variant, and one previously published missense variant. Discussion: Clinical diagnosis of early onset complicated hereditary spastic paraplegia was made in all patients. Two patients were initially suspected of having SPG11 due to thinning of the corpus callosum. As argininemia may present with a highly penetrant phenotype of spastic paraplegia associated with additional symptoms, this disease may represent a specific entity amongst the complicated HSPs.
  • Cardiac autonomic control during non-REM and REM sleep stages in paediatric patients with Prader-Willi syndrome
    Leandro C. Brito, Thereza Queiroga, Ruth R. Franco, Caroline G. B. Passone, Maria‐Cecilia Lopes, et al.
    Journal of Sleep Research, 2021
    Cardiac death is the second most prevalent cause in Prader‐Willi syndrome (PWS). Paediatric patients with PWS often present cardiac autonomic dysfunction during wakefulness, obesity and sleep‐disordered breathing. However, the extent of cardiac autonomic modulation during sleep in PWS has not been documented. The objective of this study was to assess alterations in cardiac autonomic modulation of paediatric patients with PWS during different sleep stages. Thirty‐nine participants in three groups: 14 PWS, 13 sex and age‐matched lean controls (LG) and 12 obese‐matched controls (OB). All participants underwent overnight polysomnography, including continuous electrocardiogram recordings. Heart rate variability (HRV) was analysed during representative periods of each sleep stage through time and frequency domains calculated across 5‐min periods. Between‐within ANOVAs were employed (p < .05). The results show that total HRV was lower in PWS than OB and LG during slow‐wave sleep (SWS) (standard deviation of all NN intervals [SDNN] ms, p = .006). Parasympathetic modulation assessed by time‐domain analysis was lower during SWS in PWS compared to both OB and LG (square root of the mean of the sum of the squares of differences between adjacent NN intervals [RMSSD] ms, p = .004; SDSD, standard deviation of differences between adjacent NN intervals [SDSD] ms, p = .02; number of adjacent NN intervals differing by >50 ms [NN50] ms, p = .03; proportion of adjacent NN intervals differing by >50 ms [pNN50] ms, p = .01). Sympathovagal balance assessed by frequency‐domain analysis was lower during both N2 and SWS than during the rapid eye movement (REM) sleep stage, but not different among groups. In conclusion, this group of paediatric patients with PWS had impaired cardiac autonomic balance due to reduced parasympathetic modulation during SWS. This result could imply an underlying increased cardiovascular risk in PWS even during early age and independent of obesity.
  • Adenosine kinase deficiency presenting with tortuous cervical arteries: A risk factor for recurrent stroke
    José A. Paz, Emilia K. Embiruçu, Clarissa Bueno, Rafaela C. C. L. Ferreira, Fernanda S. Oliveira, et al.
    Jimd Reports, 2021
  • Electrical status epilepticus during sleep in patients with congenital Zika virus syndrome: An unprecedented clinical finding
    Mariana Braatz Krueger, Samir Câmara Magalhães, André Pessoa, Clarissa Bueno, Marcelo Rodrigues Masruha, et al.
    Seizure, 2020
  • Melatonin Therapy Improves Cardiac Autonomic Modulation in Pinealectomized Patients
    Luciana Aparecida Campos, Clarissa Bueno, Isabella P. Barcelos, Bruno Halpern, Leandro C. Brito, et al.
    Frontiers in Endocrinology, 2020
  • A questionnaire study on sleep disturbances associated with Prader-Willi syndrome
    Thereza Lemos de Oliveira Queiroga, Durval Damiani, Maria Cecilia Lopes, Ruth Franco, Clarissa Bueno, et al.
    Journal of Pediatric Endocrinology and Metabolism, 2020
  • Melatonin increases brown adipose tissue volume and activity in patients with melatonin deficiency: A proof-of-concept study
    Bruno Halpern, Marcio C. Mancini, Clarissa Bueno, Isabella P. Barcelos, Maria Edna de Melo, et al.
    Diabetes, 2019
  • Haploidentical bone marrow transplantation with post transplant cyclophosphamide for patients with X-linked adrenoleukodystrophy: A suitable choice in an urgent situation
    Juliana Folloni Fernandes, Carmem Bonfim, Fábio Rodrigues Kerbauy, Morgani Rodrigues, Iracema Esteves, et al.
    Bone Marrow Transplantation, 2018
  • Melanopsin system dysfunction in Smith-Magenis syndrome patients
    Mirella Telles Salgueiro Barboni, Clarissa Bueno, Balázs Vince Nagy, Patrícia Lobo Maia, Kallene Summer Moreira Vidal, et al.
    Investigative Ophthalmology and Visual Science, 2018
  • Thrombotic microangiopathy caused by methionine synthase deficiency: diagnosis and treatment pitfalls
    Maria Helena Vaisbich, Andressa Braga, Maria Gabrielle, Clarissa Bueno, Flávia Piazzon, et al.
    Pediatric Nephrology, 2017
  • Environmental factors influencing biological rhythms in newborns: From neonatal intensive care units to home
    Clarissa Bueno, Luiz Menna-Barreto
    Sleep Science, 2016
  • Development of sleep/wake, activity and temperature rhythms in newborns maintained in a neonatal intensive care unit and the impact of feeding schedules
    Clarissa Bueno, Luiz Menna-Barreto
    Infant Behavior and Development, 2016
  • Spastic paraplegia, optic atrophy, and neuropathy: New observations, locus refinement, and exclusion of candidate genes
    Lúcia Inês Macedo-Souza, Fernando Kok, Silvana Santos, Luciana Licinio, Karina Lezirovitz, et al.
    Annals of Human Genetics, 2009
  • Further diffusion tensor imaging contribution in horizontal gaze palsy and progressive scoliosis
    Maria Conceptión García Otaduy, Claudia da Costa Leite, Lídia Mayumi Nagae, Marco da Cunha Pinho, Clarissa Bueno, et al.
    Arquivos De Neuro Psiquiatria, 2009
  • Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion
    Paola S. Denora, David Schlesinger, Carlo Casali, Fernando Kok, Alessandra Tessa, et al.
    Human Mutation, 2009
  • Breastfeeding, sleep and wake circadian rhythms show distinct temporal emerging patterns
    Gisele A. Oda, Fernanda Torres, Clarissa Bueno, Daniela Wey, Leandro Duarte, et al.
    Biological Rhythm Research, 2008
  • Reevaluation of a large family defines a new locus for X-linked recessive pure spastic paraplegia (SPG34) on chromosome Xq25
    Lúcia Inês Macedo-Souza, Fernando Kok, Silvana Santos, Luciana Licinio, Karina Lezirovitz, et al.
    Neurogenetics, 2008
  • A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree
    Miguel Mitne-Neto, Fernando Kok, Christian Beetz, André Pessoa, Clarissa Bueno, et al.
    European Journal of Human Genetics, 2007
  • Sleep-wake and temperature rhythms in preterm babies maintained in a neonatal care unit
    Sleep Research Online, 2001