RESUMO
The 22q11.2 deletion syndrome (22q11.2DS) is associated with a heterogeneous neurocognitive phenotype, which includes psychiatric disorders. However, few studies have investigated the influence of socioeconomic variables on intellectual variability. The aim of this study was to investigate the cognitive profile of 25 patients, aged 7 to 32 years, with a typical ≈3 Mb 22q11.2 deletion, considering intellectual, adaptive, and neuropsychological functioning. Univariate linear regression analysis explored the influence of socioeconomic variables on intellectual quotient (IQ) and global adaptive behavior. Associations with relevant clinical conditions such as seizures, recurrent infections, and heart diseases were also considered. Results showed IQ scores ranging from 42 to 104. Communication, executive functions, attention, and visuoconstructive skills were the most impaired in the sample. The study found effects of access to quality education, family socioeconomic status (SES), and caregiver education level on IQ. Conversely, age at diagnosis and language delay were associated with outcomes in adaptive behavior. This characterization may be useful for better understanding the influence of social-environmental factors on the development of patients with 22q11.2 deletion syndrome, as well as for intervention processes aimed at improving their quality of life.
Assuntos
Síndrome de DiGeorge , Humanos , Masculino , Adolescente , Feminino , Síndrome de DiGeorge/genética , Síndrome de DiGeorge/psicologia , Criança , Brasil/epidemiologia , Adulto , Adulto Jovem , Testes Neuropsicológicos , Fatores Socioeconômicos , Inteligência , Qualidade de Vida , Classe SocialRESUMO
MicroRNAs (miRNAs) are short, endogenous, noncoding RNAs that regulate gene expression through posttranscriptional mechanisms via degradation or inhibition of specific mRNAs targets. In recent years, abundant studies have illustrated the relevance of miRNAs in human psychopathology. In this current review, neuropsychiatric disorders with moderate to high prevalence among children and adolescents such as Autism Spectrum Disorder, Attention-Deficit/Hyperactivity Disorder, Dyslexia, Epilepsy, Schizophrenia and Tourette Syndrome were discussed focusing on the functional consequence of altered miRNA expression during the development of such diseases. The insight about the roles that miRNAs play in central nervous systems development such as cell proliferation and differentiation, synaptogenesis, synaptic plasticity, and apoptosis might be the key to explicate novel biomarkers for diagnosis and prognosis of these disorders, as well as the finding of new targets for drug development for therapeutic approaches.
Assuntos
MicroRNAs/metabolismo , Transtornos do Neurodesenvolvimento/metabolismo , Animais , Biomarcadores/metabolismo , Epilepsia/metabolismo , Humanos , MicroRNAs/antagonistas & inibidores , MicroRNAs/uso terapêutico , Transtornos do Neurodesenvolvimento/tratamento farmacológico , Esquizofrenia/metabolismoRESUMO
Antiretroviral therapy has marked a change in the course of HIV infection, posing new challenges to improve quality of life in pediatric patients. Objective: The goal of this paper was to identify psychosocial aspects of HIV-infected children and adolescents, and to evaluate their neuropsychological development and psychiatric co-morbidity. Patients and Methods: A descriptive study was conducted, evaluating the neurocognitive performance of patients attending at the Pediatric Department of Instituto de Medicina Tropical Pedro Kourí of La Habana, Cuba, between February and July of 2008. For that purpose, interviews to the patients and their relatives were done with the application of appropriate tests for each age. Results: Twenty-three patients ages 3-17 years (57 percent female) were studied. Sixteen (69.5 percent) were infected through vertical transmission, and 7 (30.5 percent) through other routes. School children infected through vertical transmission showed the most symptoms. Hyperactivity, anxiety, and learning disorders were the most frequently observed symptoms as well as hyperkinetic disorders, temporary tic disorders and mental retardation. Conclusion: This study shows the neuropsychological characterization of HIV-positive children and adolescents, considering the route of acquisition of the infection and the stage of the disease. It also describes psychiatric comorbidity of HIV-infected children.
El tratamiento anti-retroviral marcó un cambio en la evolución de la infección por VIH, planteándose nuevos retos que mejoren la calidad de vida en las edades pediátricas. Objetivos: Identificar aspectos psicosociales en niño y adolescente que adquirieron la infección por VIH, evaluar el desarrollo neuropsicológico y describir la co-morbilidad psiquiátrica presente en el grupo estudiado. Pacientes y Métodos: Se realizó un estudio descriptivo, donde se evaluó el desempeño neurocognitivo de pacientes atendidos en la clínica pediátrica del Instituto de Medicina Tropical Pedro Kourí de La Habana, Cuba, entre los meses de febrero y julio de 2008, para lo cual se realizaron entrevistas a familiares, examen directo del participante y la aplicación de instrumentos específicos para cada edad. Resultados: Se evaluaron 23 niños y adolescentes entre los 3 y 17 años, predominó el sexo femenino con 13 (56,5 por ciento) y las edades entre los 6-11 años con 10 (43,5 por ciento) niños, más del 50 por ciento de los cuales se encontraban en los primeros años de escolarización, 16 (69,5 por ciento) infectados por trasmisión vertical y 7 (30,5 por ciento) por otras vías. Los escolares infectados por vía vertical fueron los que mayor sintomatología aportaron, la hiperactividad (57,1 por ciento), la ansiedad (42,8 por ciento) y las dificultades en el aprendizaje (14,2 por ciento), fueron los síntomas más frecuentes. El diagnóstico de trastorno hipercinético (13,0 por ciento) fue el más importante en la etapa escolar, mientras que el trastorno de adaptación depresivo lo fue en la adolescencia (8,6 por ciento). Conclusión: El estudio permitió la caracterización neuropsicológica de los niños y adolescentes estudiados, teniendo en cuenta las vías de adquisición de la infección, el momento evolutivo de la enfermedad y describir la co-morbilidad psiquiátrica asociada.