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OBJECTIVE: This study aimed to investigate the prevalence of autism spectrum disorder and its possible correlations with clinical characteristics in patients with infantile epileptic spasms syndrome in a single center in Brazil. METHODS: This retrospective cross-sectional study examined 53 children with the diagnosis of infantile epileptic spasms syndrome prior to an autism spectrum disorder assessment. Participants were divided into two groups based on the presence or absence of autism spectrum disorder. Available variables (sex, medications, median age at onset of infantile epileptic spasms syndrome, and presence of comorbidities) were compared using Mann-Whitney U or chi-square tests. RESULTS: Among the included patients, 12 (23 %) were diagnosed with autism spectrum disorder, corresponding to a relative risk of 0.29 (95 % confidence interval 0.174-0.492). The age at the first seizure ranged from 3 to 15 months, with a mean of 6.65 months. This age significantly differed between participants with autism spectrum disorder (10.58 months) and those without (5.43 months), p<0.001. CONCLUSION: Children with infantile epileptic spasms syndrome have a higher risk of being diagnosed with autism spectrum disorder. Later age of onset and period of spasm occurrence might be predisposing risk factors.
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Transtorno do Espectro Autista , Espasmos Infantis , Humanos , Estudos Retrospectivos , Transtorno do Espectro Autista/epidemiologia , Transtorno do Espectro Autista/complicações , Masculino , Feminino , Lactente , Brasil/epidemiologia , Estudos Transversais , Espasmos Infantis/epidemiologia , Fatores de Risco , Prevalência , Idade de Início , Pré-EscolarRESUMO
BACKGROUND: Opsoclonus-myoclonus syndrome (OMS) is a rare neuroinflammatory disorder characterized by ataxia, opsoclonus, and myoclonus. Clinical diagnosis of OMS has been challenging; therefore, we sought to determine the clinical and treatment profiles of patients with OMS at the largest pediatric hospital in Latin America. METHODS: We analyzed the data of patients diagnosed with OMS between 2010 and 2020 at Pequeno Principe Hospital (Brazil) to determine the corresponding clinical profile more accurately. RESULTS: Of the approximately 50,000 visitors to our pediatric neurology department from 2010 to 2020, 10 patients with OMS were observed. Five nontumor cases included three parainfectious and two idiopathic cases. The median time from symptom onset to diagnosis was 34 days. All patients with diagnostic OMS criteria in the idiopathic, nontumor group underwent whole-exome sequencing, with potentially pathogenic mutations identified in two cases. Nine patients were treated with methylprednisolone pulse, followed by oral steroids; eight received one or more intravenous immunoglobulin treatments; and six received azathioprine and cyclophosphamide. Complete symptomatic recovery was observed in only one patient. CONCLUSIONS: OMS diagnosis remains challenging. Diagnostic suspicion is necessary to improve the management of these patients and allow early immunosuppressive treatment. Paraneoplastic etiology is the most prevalent. In idiopathic patients who do not respond to immunosuppressive treatment, tests, such as whole-exome sequencing, may reveal a differential diagnosis. Genetic alterations that increase the risk of tumors may be an important clue to the pathophysiology of OMS.
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Síndrome de Opsoclonia-Mioclonia , Criança , Humanos , Síndrome de Opsoclonia-Mioclonia/diagnóstico , Síndrome de Opsoclonia-Mioclonia/tratamento farmacológico , Síndrome de Opsoclonia-Mioclonia/etiologia , América Latina , Hospitais Pediátricos , Ciclofosfamida , ImunossupressoresRESUMO
Introduction: Mucopolysaccharidoses (MPS) constitute a group of progressive and multisystemic inherited metabolic diseases that profoundly affect both the mental health of patients and the wellbeing of their families. This study aims to evaluate the impact of MPS on family functioning and related factors. Methods and results: Twenty-five patients with MPS, including types I (n = 4), II (n = 11), IIIB (n = 2), IVA (n = 3), and VI (n = 5), and their families participated in this study. The mean patient age was 13 years [standard deviation (SD): 7.7 years]. Behavioral and emotional problems were noted in 9.1% of all patients. While the type of MPS did not directly influence mental problems, the presence of neuronal involvement did (p = 0.006). Patients with MPS III exhibited difficulties primarily in emotional areas, conduct, hyperactivity, and peer problems. Importantly, both patients with MPS II and those with MPS III experienced a significant impact on communication [mean scores for communication domain: MPS II, 35.6 (SD: 24.3); MPS III, 35.0 (SD: 22.6)]; poorer communication was directly linked to worse adaptive behavior (p = 0.012), and worse adaptive behavior was associated with lower quality of life (p = 0.001). Quality of life and caregiver burden among family members did not significantly differ across MPS types; however, higher caregiver burden was negatively associated with quality of life (p = 0.002). Concerning family functioning, the most impacted domains included independence, intellectual/cultural orientation, activity/recreation, and expressiveness. Domain scores did not vary based on MPS type, treatment, or neurological involvement. Quality-of-life scores were positively associated with the cultural/intellectual domain score. Conclusion: The impacts of quality of life and family extend beyond clinical characteristics and MPS type, strongly influenced by patient cognition and communication, as well as type of family functioning, especially those with greater cultural/intellectual skills of their family members. A multidisciplinary approach addressing the broader needs of individuals with MPS becomes essential. Techniques aimed at improving communication, including prompt interventions such as speech therapy and augmentative and alternative communication strategies, can contribute to overall family functioning improvement.
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Transtornos Mentais , Mucopolissacaridoses , Humanos , Adolescente , Qualidade de Vida , Mucopolissacaridoses/complicações , Mucopolissacaridoses/tratamento farmacológico , Família , Saúde MentalRESUMO
Autism spectrum disorder (ASD) affects children and their families. We investigated the family environment of children with ASD in Brazil. Twenty-one families participated. Outcome measures administered to parents included the Strengths and Difficulties Questionnaire, Questionnaire on Resources and Stress-Short Form, and the Family Environment Scale. All families reported a number of difficulties, including social interactions and peer relationships, stress levels, and communication difficulties. Families also reported great concern for their child's future. Brazil is a developing country, yet there are few national resources and studies related to ASD. The challenges continue from diagnosis through treatment. Our results emphasize the need to understand the family environment of children with autism and their parents' apprehensions to develop effective coping programs.
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Transtorno do Espectro Autista , Transtorno Autístico , Criança , Humanos , Transtorno do Espectro Autista/psicologia , Brasil , Pais/psicologia , Adaptação PsicológicaRESUMO
Mucopolysaccharidosis type III (MPS III) or Sanfilippo syndrome is the most common form of MPS, in which neurological involvement in all stages of the disease is prominent. The current study aimed to comprehensively describe the neurological profile of children and adolescents with MPS III who visited the largest pediatric hospital in South America. A prospective/retrospective cohort analysis was performed on 10 patients with MPS III from eight unrelated families. Most patients <12 months of age had achieved development milestones within the expected range for their age, with delay in walking independently and first single word acquisition. Behavioral symptoms were reported in seven patients. Eight patients (80%) developed profound intellectual disabilities. Six patients (60%) had epilepsy, among whom 75% had their first seizure between 2 and 4 years of age; the frequency of which increased with age. Monotherapy was effective in 60% of patients. Two patients, both aged <8 years, had normal baseline electroencephalographic activity. Epileptiform activity was observed in three patients. Cortical atrophy was visualized using magnetic resonance imaging in 71% patients; all but one of these patients were aged >6 years. Neurological abnormalities increased in prevalence and severity with age. Anti-seizure drug resistance was uncommon. Dysmorphological and systemic manifestations were uncommon and mild and did not correlate with neurological involvement. Despite high allelic heterogeneity, neurodegeneration was similar among all patients. Overall, these data contribute to the scarce literature from developing countries.
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Purpose: This study aimed to assess whether high-income countries have a lower mean age at the time of diagnosis of autism spectrum disorder (ASD) than low- and middle-income countries. Method: We reviewed studies related to ASD diagnoses and the time of first concerns in low-, middle-, and high-income countries, published in PubMed, SciELO, Lilacs, and ScienceDirect. Thirty articles were included: 13 from low- and middle-income countries and 17 from high-income countries. Results: The average delay between initial concerns and diagnosis was 32.33 months, with initial concerns averaging 23.64 months and diagnosis at 55.97 months. No statistical differences were found between countries with low-, middle-, and high-income. Conclusions: This review found a considerable delay in ASD diagnosis despite an early presence of recognized signs and symptoms. It highlights the urgent need for standardized tools for early ASD diagnosis.
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Glycogen storage diseases (GSD) encompass a group of rare inherited diseases due dysfunction of glycogen metabolism. Hypoglycemia is the most common primary manifestation of GSD, and disturbances in glucose metabolism can cause neurological damage. The aims of this study were to first investigate the metabolic, genetic, and neurological profiles of children with GSD, and to test the hypothesis whether GSD type I would have greater neurological impact than GSD type IX. A cross-sectional study was conducted with 12 children diagnosed with GSD [Types: Ia (n=5); 1, Ib (n=1); 4, IXa (n=5); and 1, IXb (n=1)]. Genetic testing was conducted for the following genes using multigene panel analysis. The biochemical data and magnetic resonance imaging of the brain presented by the patients were evaluated. The criteria of adequate metabolic control were adopted based on the European Study on Glycogen Storage Disease type I consensus. Pathogenic mutations were identified using multigene panel analyses. The mutations and clinical chronology were related to the disease course and neuroimaging findings. Adequate metabolic control was achieved in 67% of patients (GSD I, 43%; GSD IX, 100%). Fourteen different mutations were detected, and only two co-occurring mutations were observed across families (G6PC c.247C>T and c.1039C>T). Six previously unreported variants were identified (5 PHKA2; 1 PHKB). The proportion of GSD IX was higher in our cohort compared to other studies. Brain imaging abnormalities were more frequent among patients with GSD I, early-symptom onset, longer hospitalization, and inadequate metabolic control. The frequency of mutations was similar to that observed among the North American and European populations. None of the mutations observed in PHKA2 have been described previously. Therefore, current study reports six GSD variants previously unknown, and neurological consequences of GSD I. The principal neurological impact of GSD appeared to be related to inadequate metabolic control, especially hypoglycemia.
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Encéfalo/diagnóstico por imagem , Doença de Depósito de Glicogênio/diagnóstico por imagem , Pré-Escolar , Feminino , Doença de Depósito de Glicogênio/genética , Humanos , Lactente , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , MutaçãoRESUMO
BACKGROUND: The etiology of autism spectrum disorder (ASD) is complex and involves the interplay of genetic and environmental factors. AIM: We sought to identify potential prenatal, perinatal, and neonatal risk factors for ASD in a unique population of children who had perinatal complications and required care in a neonatal intensive care unit (NICU). METHODS: This prospective cohort study included 73 patients discharged from a NICU who received long-term follow-up at the largest children's hospital in Brazil. Potential risk factors were compared between 44 children with a diagnosis of ASD and 29 children without using the Mann-Whitney U test. Proportions were analyzed using the chi-square test. Simple and multiple logistic regression tests were performed. RESULTS: Of 38 factors analyzed, the following 7 were associated with ASD: family history of neuropsychiatric disorders (p = 0.049); maternal psychological distress during pregnancy (p = 0.007); ≥ 26 days in the NICU (p = 0.001); feeding tube for ≥ 15 days (p = 0.014); retinopathy of prematurity (p = 0.022); use of three or more antibiotics (p = 0.008); and co-sleeping until up to 2 years of age (p = 0.004). CONCLUSION: This study found associations between specific risk factors during critical neurodevelopmental periods and a subsequent diagnosis of ASD. Knowledge of the etiologic factors that may influence the development for ASD is paramount for the development of intervention strategies and improvement of prognoses.
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Transtorno do Espectro Autista , Transtorno Autístico , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/epidemiologia , Transtorno do Espectro Autista/etiologia , Transtorno Autístico/complicações , Criança , Feminino , Humanos , Recém-Nascido , Unidades de Terapia Intensiva Neonatal , Gravidez , Estudos Prospectivos , Fatores de RiscoRESUMO
Objective: Examine the Strengths and Difficulties Questionnaire (SDQ) responses of parents and teachers for children with ADHD comorbid with major depressive disorder (MDD), with an emphasis on determining how well the respondent groups' responses correlate, and how well the results obtained perform as predictors of clinical diagnosis. Method: The SDQ was completed by parents and teachers of (n = 215 participants, 7-12 years old) in ADHD, MDD, ADHD + MDD, and healthy control groups. Agreement between parent and teacher SDQs and their concordance with Diagnostic and Statistical Manual of Mental Disorders (4th ed.; DSM-IV) diagnoses were assessed. Receiver operating characteristic (ROC) and Kappa concordance analyses were used to compare the groups with the health control group. Results: The comorbid group presented greater impairments than the ADHD, MDD, and control groups (p < .001). Conclusion: The presence of psychiatric comorbidity causes greater impairment for school children with ADHD. The SDQ has good sensitivity for detecting these children and correlates well with DSM diagnosis.
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Transtorno do Deficit de Atenção com Hiperatividade , Transtorno Depressivo Maior , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Criança , Depressão , Transtorno Depressivo Maior/diagnóstico , Transtorno Depressivo Maior/epidemiologia , Manual Diagnóstico e Estatístico de Transtornos Mentais , Humanos , Pais , Percepção , Inquéritos e QuestionáriosRESUMO
Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is an immune-mediated disease that induces a wide spectrum of symptoms, especially in toddlers. These include acute-onset movement disorders, with neurological regression, and other associated neurological symptoms. Anti-NMDAR encephalitis remains a diagnostic challenge, especially in toddlers, with better prognosis associated with early treatment. We report the case of a 15-months-old boy who initially presented with vomiting and later with acute-onset dystonia after the administration of antiemetics. Within 14 days, the patient developed neuropsychomotor developmental regression and worsening dystonia. After ruling out an acute dystonic reaction and glutaric acidemia type 1 (GA-1), a final diagnosis of anti-NMDAR encephalitis was made. The patient responded well to immunomodulatory therapy. The present case underscores the importance of early treatment for patient prognosis and of including anti-NMDAR encephalitis in the differential diagnosis of acute-onset movement disorders.
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BACKGROUND: Several studies worldwide have pointed to depression and anxiety symptoms as being related to adolescent smoking. The aim of this study was to investigate, the potential link of cigarette smoking with depression, anxiety, and suicidal ideation and the influence of gender on these relationships in Brazilian adolescents. METHODS: Associations of smoking with Children Depressive Inventory version 2 (CDI2) scores, Hamilton Anxiety Scale (HAM-A) scores, and poor school performance (i.e., grade retention) were examined in 988 Brazilian students (age range, 11-17 years) enrolled in 82 public and private schools. Logistic regression modeling was employed and the resultant odds ratios (ORs) are reported with 95% CIs. RESULTS: Of 988 participants, 240 (24.3%) were smokers. Mean (±standard error) HAM-A scores were higher for smokers (21.1 ± 9.7) than nonsmokers (15.4 ± 8.6; p < 0.0001). Relative to nonsmokers, smokers had higher total CDI2 scores (p = 0.033), and higher scores for the CDI2 domains of Emotional Problems (p = 0.023), Negative Self-esteem (p < 0.001), and Functional Problems (p = 0.046). Suicidal ideation was common among smokers with depressive symptoms (54.2%). Smoking was associated with being held back three grades (p < 0.001). Female smokers were more likely to report suicidal ideation than male smokers (p = 0.020). Logistic regression modeling revealed significant associations of suicidal ideation with being female (OR, 1.81; 95% CI, 1.38-2.37), being a female smoker (OR, 2.05; 95% CI, 1.51-2.80), and having a HAM-A score > 16 (OR, 2.18; 95% CI, 1.66-2.86). CONCLUSION: Smoking was found to be associated with anxiety symptoms, depressive symptoms, and poor school performance in Brazilian adolescents; and female smokers reported more suicidal ideation than male smokers.
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BACKGROUND: Townes-Brocks syndrome (TBS) is a rare autosomal dominant condition characterized by renal, anal, limb, and auditory abnormalities. TBS diagnosis can be challenging in settings where genetic analysis is not readily available. TBS traits overlap with those of Goldenhar and VACTERL syndromes. CASE PRESENTATION: Here, we present the case of a 5-year-old Brazilian boy born with an anorectal abnormality, limb and external ears malformations, genitourinary anomalies, and a congenital heart defect. Genetic analysis revealed a SALL1 nonsense mutation. The case is discussed in the context of the current literature. CONCLUSIONS: Because of the variability in TBS clinical presentation, genetic analysis is key to the differential diagnosis of TBS relative to phenotypically similar syndromes.
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Anormalidades Múltiplas/genética , Anus Imperfurado/genética , Códon sem Sentido , Predisposição Genética para Doença/genética , Perda Auditiva Neurossensorial/genética , Polegar/anormalidades , Fatores de Transcrição/genética , Anormalidades Múltiplas/diagnóstico , Canal Anal/anormalidades , Anus Imperfurado/diagnóstico , Brasil , Pré-Escolar , Diagnóstico Diferencial , Esôfago/anormalidades , Genótipo , Perda Auditiva Neurossensorial/diagnóstico , Cardiopatias Congênitas/diagnóstico , Humanos , Rim/anormalidades , Deformidades Congênitas dos Membros/diagnóstico , Masculino , Fenótipo , Coluna Vertebral/anormalidades , Traqueia/anormalidadesRESUMO
OBJECTIVE: Enabling development of the ability to communicate effectively is the principal objective of cochlear implantation (CI) in children. However, objective and effective metrics of communication for cochlear-implanted Brazilian children are lacking . The Functioning after Pediatric Cochlear Implantation (FAPCI), a parent/caregiver reporting instrument developed in the United States, is the first communicative performance scale for evaluation of real-world verbal communicative performance of 2-5-year-old children with cochlear implants. The primary aim was to cross-culturally adapt and validate the Brazilian-Portuguese version of the FAPCI. The secondary aim was to conduct a trial of the adapted Brazilian-Portuguese FAPCI (FAPCI-BP) in normal hearing (NH) and CI children. METHODS: The American-English FAPCI was translated by a rigorous forward-backward process. The FAPCI-BP was then applied to the parents of children with NH (n = 131) and CI (n = 13), 2-9 years of age. Test-retest reliability was verified. RESULTS: The FAPCI-BP was confirmed to have excellent internal consistency (Cronbach's alpha > 0.90). The CI group had lower FAPCI scores (58.38 ± 22.6) than the NH group (100.38 ± 15.2; p < 0.001, Wilcoxon test). CONCLUSION: The present results indicate that the FAPCI-BP is a reliable instrument. It can be used to evaluate verbal communicative performance in children with and without CI. The FAPCI is currently the only psychometrically-validated instrument that allows such measures in cochlear-implanted children. .
OBJETIVO: O principal objetivo do implante coclear (IC) em crianças é permitir o desenvolvimento da capacidade de se comunicar efetivamente. Contudo, não há objetivo nem parâmetros efetivos de comunicação para crianças brasileiras com o implante coclear. O Functioning after Pediatric Cochlear Implantation (FAPCI), instrumento de relato dos pais/prestadores de cuidados desenvolvido nos Estados Unidos, é a primeira escala de desempenho para avaliação do desempenho comunicativo verbal no mundo real de crianças de 2-5 anos com implantes cocleares. Nosso principal objetivo era adaptar e validar a versão do FAPCI em português do Brasil de forma transcultural. Nosso objetivo secundário era fazer um teste da versão do FAPCI adaptada para o português do Brasil (FAPCI-PB) com grupos de crianças com audição normal (AN) e IC. MÉTODOS: O FAPCI em inglês americano foi traduzido por um processo rigoroso de tradução e retrotradução. O FAPCI-PB foi, então, aplicado aos pais das crianças com AN (n = 131) e IC (n = 13) de 2-9 anos. Foi verificada a confiabilidade da reaplicação do teste. RESULTADOS: Confirmou-se que o FAPCI-PB tem excelente coerência interna (alfa de Cronbach > 0,90). O grupo com IC apresentou menores pontuações no FAPCI (58,38 ± 22,6) do que o grupo com AN (100,38 ± 15,2; p < 0,001, teste de Wilcoxon). CONCLUSÃO: Esses resultados indicam que o FAPCI-PB é um instrumento confiável. Pode ser usado para avaliar o desempenho comunicativo verbal em crianças com e sem IC. O FAPCI é, atualmente, o único instrumento validado psicometricamente que possibilita essas medições em crianças com implante coclear. .
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Adulto , Humanos , Masculino , Adulto Jovem , Algoritmos , Temperatura Corporal/fisiologia , Encéfalo/fisiologia , Imageamento por Ressonância Magnética/métodos , Espectroscopia de Ressonância Magnética/métodos , Termografia/métodos , Reprodutibilidade dos Testes , Sensibilidade e EspecificidadeRESUMO
OBJECTIVE: Enabling development of the ability to communicate effectively is the principal objective of cochlear implantation (CI) in children. However, objective and effective metrics of communication for cochlear-implanted Brazilian children are lacking. The Functioning after Pediatric Cochlear Implantation (FAPCI), a parent/caregiver reporting instrument developed in the United States, is the first communicative performance scale for evaluation of real-world verbal communicative performance of 2-5-year-old children with cochlear implants. The primary aim was to cross-culturally adapt and validate the Brazilian-Portuguese version of the FAPCI. The secondary aim was to conduct a trial of the adapted Brazilian-Portuguese FAPCI (FAPCI-BP) in normal hearing (NH) and CI children. METHODS: The American-English FAPCI was translated by a rigorous forward-backward process. The FAPCI-BP was then applied to the parents of children with NH (n=131) and CI (n=13), 2-9 years of age. Test-retest reliability was verified. RESULTS: The FAPCI-BP was confirmed to have excellent internal consistency (Cronbach's alpha > 0.90). The CI group had lower FAPCI scores (58.38 ± 22.6) than the NH group (100.38 ± 15.2; p<0.001, Wilcoxon test). CONCLUSION: The present results indicate that the FAPCI-BP is a reliable instrument. It can be used to evaluate verbal communicative performance in children with and without CI. The FAPCI is currently the only psychometrically-validated instrument that allows such measures in cochlear-implanted children.
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Implante Coclear/métodos , Comunicação , Transtornos da Audição/diagnóstico , Testes Auditivos/instrumentação , Transtornos da Linguagem/diagnóstico , Traduções , Brasil , Criança , Linguagem Infantil , Pré-Escolar , Comparação Transcultural , Feminino , Perda Auditiva Neurossensorial/reabilitação , Humanos , Masculino , Reprodutibilidade dos Testes , Inquéritos e Questionários , Comportamento VerbalRESUMO
The relationship between mental health and poverty has been well documented in adults. However, few studies have addressed how low socioeconomic status and psychosocial vulnerabilities may influence depressive symptoms in adolescents. The current study was carried out in a non-randomly selected sample of 239 adolescents whose parents work as ragpickers (waste collectors for recycling) in Brazil. In-person interviews were conducted, and the presence of depressive symptoms and suicidal ideation were assessed using the Children's Depression Inventory (CDI). We observed that 23% (CI ± 5.34) of the adolescents presented with depressive symptoms and 35% (CI ± 6.05) had suicidal ideation. Fatigue or loss of energy (p = .012) and irritable mood (p = .013) were significantly higher among boys than girls according to DSM-IV criteria. However, we found no gender differences in DSM-IV criteria for Major Depressive Disorders (MDD) or Dysthymic Disorder (DD) in diminished interest or pleasure, weight loss or weight gain, decreased appetite, sleep problems, feelings of worthlessness, diminished concentration or ability to think, recurrent thoughts of death, suicidal ideation, or low self-esteem. There were no significant gender differences in total CDI score, however a greater percentage of girls presented with depressed mood than boys (29.9% vs. 17.1%, p < .05).
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Depressão/epidemiologia , Transtorno Depressivo/epidemiologia , Pobreza/psicologia , Ideação Suicida , Adolescente , Brasil , Criança , Feminino , Humanos , Masculino , Pobreza/estatística & dados numéricos , Reciclagem , Fatores Sexuais , Instalações de Eliminação de ResíduosRESUMO
BACKGROUND: Sleep deprivation is extremely common in contemporary society, and is considered to be a frequent cause of behavioral disorders, mood, alertness, and cognitive performance. Although the impacts of sleep deprivation have been studied extensively in various experimental paradigms, very few studies have addressed the impact of sleep deprivation on central auditory processing (CAP). Therefore, we examined the impact of sleep deprivation on CAP, for which there is sparse information. In the present study, thirty healthy adult volunteers (17 females and 13 males, aged 30.75±7.14 years) were subjected to a pure tone audiometry test, a speech recognition threshold test, a speech recognition task, the Staggered Spondaic Word Test (SSWT), and the Random Gap Detection Test (RGDT). Baseline (BSL) performance was compared to performance after 24 hours of being sleep deprived (24hSD) using the Student's t test. RESULTS: Mean RGDT score was elevated in the 24hSD condition (8.0±2.9 ms) relative to the BSL condition for the whole cohort (6.4±2.8 ms; p=0.0005), for males (p=0.0066), and for females (p=0.0208). Sleep deprivation reduced SSWT scores for the whole cohort in both ears [(right: BSL, 98.4%±1.8% vs. SD, 94.2%±6.3%. p=0.0005)(left: BSL, 96.7%±3.1% vs. SD, 92.1%±6.1%, p<0.0001)]. These effects were evident within both gender subgroups [(right: males, p=0.0080; females, p=0.0143)(left: males, p=0.0076; females: p=0.0010). CONCLUSION: Sleep deprivation impairs RGDT and SSWT performance. These findings confirm that sleep deprivation has central effects that may impair performance in other areas of life.
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Vias Auditivas/fisiologia , Transtornos da Percepção/etiologia , Reconhecimento Psicológico/fisiologia , Privação do Sono/fisiopatologia , Percepção da Fala/fisiologia , Estimulação Acústica , Adolescente , Adulto , Audiometria de Tons Puros , Feminino , Humanos , Masculino , Psicoacústica , Detecção de Sinal Psicológico/fisiologia , Fatores de Tempo , Adulto JovemRESUMO
BACKGROUND: Early-onset depressive disorders can have severe consequences both from developmental and functional aspects. The etiology of depressive disorders is complex and multi-factorial, with an intricate interaction among environmental factors and genetic predisposition. While data from studies on adults suggest that caffeine is fairly safe, effects of caffeine in children, who are in period of rapid brain development, are currently unknown. Furthermore, systematic research addressing the relationship between depressive symptoms in children and caffeine consumption is lacking.The present study examined the effects of caffeine consumption on depressed mood in children with depression and non-depressed participants. METHODS: Children and adolescents (n = 51) already enrolled in an ongoing longitudinal study, aged 9-12 years, were assessed for depressive symptoms with the Children Depressive Inventory (CDI). Psychopathological symptoms were assessed with the Child Behavioral Checklist (CBCL) and eating habits were assessed with the Nutrition-Behavior Inventory (NBI) 1. The children were compared to control children without psychopathology attending public schools in a Southern Brazilian city. RESULTS: Participants with CDI scores ≥ 15 (mean = 19; S.D. = 4) also had high NBI scores (mean = 52; S.D. = 19, p < 0.001) suggestive of a relationship between depressive symptoms and environmental factors, in this case nutrition/behavior. Additional linear regression adjusted statistical analysis, considering the factors of consumption of sweets and caffeine individually, showed that caffeine, but not sweets, was associated with depressive symptoms. CONCLUSIONS: These findings indicate that depressed children consume more caffeinated drinks than non-depressed children. Nonetheless while a strong association between depressive symptoms and caffeine consumption among children was found, further research should investigate whether or not this association is due to a cause and effect relationship.
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Bebidas/estatística & dados numéricos , Cafeína/administração & dosagem , Estimulantes do Sistema Nervoso Central/administração & dosagem , Depressão/diagnóstico , Depressão/epidemiologia , Adolescente , Análise de Variância , Estudos de Casos e Controles , Criança , Dieta , Feminino , Humanos , Modelos Lineares , Estudos Longitudinais , Masculino , Inquéritos e QuestionáriosRESUMO
OBJECTIVE: The validity of a diagnosis of ADHD in children with a high intelligence quotient (IQ) remains controversial. Using a multidisciplinary approach, rigorous diagnostic criteria, and worldwide-validated psychometric instruments, we identified a group of children attending public schools in southern Brazil for co-occurrence of high IQ and ADHD. METHOD: Students attending public schools, in the first to fifth grades, were referred to our Research Center for behavioral and/or learning difficulties. These children completed clinical, psychiatric, psychological, and pedagogical evaluations for assessment of IQ, ADHD, learning, and other emotional or behavioral disorders. RESULTS: Fifteen of the participants were identified to have a full-scale IQ ≥ 120. Data show that 10 of these high-IQ children met the DSM-IV criteria diagnosis for ADHD combined type, 5 met criteria for current oppositional-defiant disorder, 2 had current major depression, and 2 had a learning disorder. Here we present the results as a case series. CONCLUSION: Our data support the hypothesis that ADHD is a valid diagnosis in children with high IQs.
Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtornos de Deficit da Atenção e do Comportamento Disruptivo/diagnóstico , Transtorno Depressivo/diagnóstico , Inteligência , Deficiências da Aprendizagem/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Transtornos de Deficit da Atenção e do Comportamento Disruptivo/complicações , Transtornos de Deficit da Atenção e do Comportamento Disruptivo/psicologia , Brasil , Criança , Transtorno Depressivo/complicações , Transtorno Depressivo/psicologia , Humanos , Testes de Inteligência , Deficiências da Aprendizagem/complicações , Deficiências da Aprendizagem/psicologia , Masculino , Psicometria , Reprodutibilidade dos TestesRESUMO
Objective: The Nutrition-Behavior Inventory (NBI) is a self-administered instrument that allows eating habits to be correlated with psychopathological symptoms. The objective was to translate and adapt the NBI to Portuguese, and test the Portuguese NBIs reliability. The second aim was to verify its sensitivity for identification of risk factors in terms of behavior/eating habits in children and adolescents. Methods: The NBI was translated, adapted, and back-translated. The Portuguese version of the NBI was then applied (N = 96; 9-12 years). In order to verify the internal consistency, Cronbachs alpha was used. The psychopathological indicators of the participants were accessed using the Child Behavior Checklist (CBCL). The mean CBCL scores were analyzed in relation to the NBI data (cutoff point: ≥ 30 with indicators, and < 30 without). Results: Internal consistency was high (Cronbachs alpha = 0.89) for the NBI. The CBCL scores correlated significantly with NBI (> 30) on the following: anxiety and depression (p = 0.041), social difficulties (p = 0.028), attention problems (p = 0.001), aggressive behavior (p = 0.015); ADHD (p < 0.001), and conduct problems (p = 0.032). Conclusion: The present results indicate that the NBI is a reliable instrument. The NBI can be useful for evaluating psychopathological symptoms related to the eating habits and behaviors of children and adolescents.
Objetivo: O Nutrition-Behavior Inventory (NBI) é um instrumento de autorrelato que permite que os hábitos alimentares sejam acessados e correlacionados com sintomas psicopatológicos. O objetivo foi traduzir, adaptar e testar a confiabilidade do NBI para o português. O segundo objetivo foi verificar a sua sensibilidade para a identificação de fatores de risco em termos de comportamento/hábitos alimentares em crianças e adolescentes. Métodos: O NBI foi traduzido, adaptado e retrotraduzido. A versão em português do NBI foi então aplicada (N = 96; 9-12 anos). O instrumento foi analisado em relação à consistência interna por meio do índice alfa de Cronbach. Os indicadores psicopatológicos dos participantes foram acessados utilizando o Child Behavior Checklist (CBCL). Os escores médios do CBCL foram analisados em relação aos dados do NBI (ponto de corte: ≥ 30 com indicadores, e < 30 sem). Resultados: A consistência interna foi alta (alfa de Cronbach = 0,89) para o NBI. As pontuações do CBCL foram associadas significativamente com NBI (> 30) em relação aos indicadores: ansiedade e depressão (p = 0,041), dificuldades sociais (p = 0,028), problemas de atenção (p = 0,001), comportamento agressivo (p = 0,015), TDAH (p < 0,001) e problemas de conduta (p = 0,032). Conclusão: Os resultados indicam que o NBI é um instrumento confiável. O NBI pode ser útil para avaliar sintomas psicopatológicos relacionados com os hábitos alimentares e comportamentos de crianças e adolescentes.
RESUMO
Attention-deficit/hyperactivity disorder (ADHD) is a common neurobehavioral disorder that affects children worldwide. The etiology of ADHD is complex and not fully understood. Earlier studies associated elevated levels of manganese (Mn) with learning problems, attention deficits, and ADHD. Furthermore, it has also been shown that the dopamine (DA) system, the primary site of action of pharmacological ADHD treatments, is influenced by high levels of Mn. Recent studies have suggested that Mn accumulates in dopaminergic neurons via the presynaptic dopamine transporter (DAT). A role for altered functioning of the dopaminergic system in the etiology of ADHD has been well established through neurochemical, neurophysiological, imaging, and genetics studies. Methylphenidate (MPH) is a psychostimulant commonly used to manage ADHD symptoms. The pharmacotherapeutic effect of MPH occurs primarily through its action of inhibiting DAT, and thus increasing dopamine, as well as other catecholamines, at the synapse. We assessed a group of children with ADHD and matched control children without psychopathology attending public schools in a southern Brazilian city and reported elevated serum concentrations of Mn in treatment-naïve children with ADHD compared to normal controls. Interestingly, children with ADHD receiving concurrent MPH showed no difference in Mn serum levels versus controls. We then prospectively assessed the impact of naturalistic treatment with MPH and determined that Mn concentrations were significantly reduced from baseline values following MPH exposure.