Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 157
Filter
1.
Neuroscience Bulletin ; (6): 113-134, 2022.
Article in English | WPRIM | ID: wpr-922681

ABSTRACT

Mutations of the X-linked methyl-CpG-binding protein 2 (MECP2) gene in humans are responsible for most cases of Rett syndrome (RTT), an X-linked progressive neurological disorder. While genome-wide screens in clinical trials have revealed several putative RTT-associated mutations in MECP2, their causal relevance regarding the functional regulation of MeCP2 at the etiologic sites at the protein level requires more evidence. In this study, we demonstrated that MeCP2 was dynamically modified by O-linked-β-N-acetylglucosamine (O-GlcNAc) at threonine 203 (T203), an etiologic site in RTT patients. Disruption of the O-GlcNAcylation of MeCP2 specifically at T203 impaired dendrite development and spine maturation in cultured hippocampal neurons, and disrupted neuronal migration, dendritic spine morphogenesis, and caused dysfunction of synaptic transmission in the developing and juvenile mouse cerebral cortex. Mechanistically, genetic disruption of O-GlcNAcylation at T203 on MeCP2 decreased the neuronal activity-induced induction of Bdnf transcription. Our study highlights the critical role of MeCP2 T203 O-GlcNAcylation in neural development and synaptic transmission potentially via brain-derived neurotrophic factor.


Subject(s)
Animals , Humans , Methyl-CpG-Binding Protein 2/metabolism , Mice , Neurodevelopmental Disorders/genetics , Rett Syndrome/genetics , Synaptic Transmission , Threonine
2.
Rev. habanera cienc. méd ; 20(5): e3714, 2021. tab
Article in Spanish | LILACS, CUMED | ID: biblio-1352084

ABSTRACT

Introducción: El Trastorno por déficit de atención y/o hiperactividad (TDAH) es un trastorno del neurodesarrollo que afecta la calidad de vida en niños y adolescentes, y se extiende hasta la edad adulta. La literatura señala que la práctica de actividad física y ejercicio físico establece beneficios positivos para el organismo del ser humano, a nivel físico, biológico y psicológico. Objetivo: Examinar los efectos de las intervenciones de actividad física o ejercicio físico sobre la calidad de vida en niños y adolescentes diagnosticados con TDAH. Material y Método: La búsqueda de las investigaciones fueron realizadas a través de Google Scholar, Scopus, Pubmed, Scielo, Web of Science, Dialnet y Redalyc, seleccionando solo investigaciones de libre acceso en idioma español. Se consideraron los últimos 5 años para el análisis de las investigaciones, se buscaron mediante las palabras utilizadas Actividad Física y Calidad de vida en niños y adolescentes con trastorno por déficit de atención e hiperactividad, Ejercicio Físico y Calidad de vida en niños y adolescentes con trastorno por déficit de atención e hiperactividad, Actividad Física y Calidad de vida en niños y adolescentes con TDAH, Ejercicio Físico y Calidad de vida en niños y adolescentes con TDAH. Desarrollo: Los 8 artículos seleccionados y extraídos de las bases de datos, concuerdan con los criterios de inclusión relacionados con los beneficios en la calidad de vida físicos, a nivel psicológicos, biológicos y sociales. Conclusiones: Intervenciones de actividad física y ejercicio físico con una duración de 15 min a 90 min en niños y adolescentes con TDAH pueden ser beneficiosas en la calidad de vida(AU)


Introduction: Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder that affects quality of life in children and adolescents, extending into adulthood. The literature indicates that the practice of physical activity and physical exercise establishes positive benefits for the human body at a physical, biological and psychological level. Objective: To examine the effects of physical activity or physical exercise interventions on quality of life in children and adolescents diagnosed with ADHD. Material and Methods: The search for research was carried out through Google Scholar, Scopus, Pubmed, Scielo, Web of Science, Dialnet and Redalyc, selecting only open access research in Spanish. The last 5 years were considered for the analysis of the research; they were searched using the words: Physical Activity and Quality of life in children and adolescents with attention deficit and hyperactivity disorder, Physical Exercise and Quality of life in children and adolescents with attention deficit disorder with hyperactivity, Physical Activity and Quality of life in children and adolescents with ADHD, Physical Exercise and Quality of life in children and adolescents with ADHD. Development: The 8 articles selected and extracted from the databases agree with the inclusion criteria related to the physical, psychological, biological and social benefits on quality of life. Conclusions: Physical activity and physical exercise interventions with a duration of 15-90 minutes in children and adolescents with ADHD can be beneficial on quality of life(AU)


Subject(s)
Humans , Male , Female , Child, Preschool , Child , Adolescent , Attention Deficit Disorder with Hyperactivity/therapy , Exercise/psychology , Human Body , Neurodevelopmental Disorders
3.
Rev. Pesqui. Fisioter ; 11(3): 482-494, ago.2021. ilus, tab
Article in English, Portuguese | LILACS | ID: biblio-1293371

ABSTRACT

INTRODUÇÃO: A comprovação da associação de microcefalia no Brasil com a infecção congênita pelo Zika vírus, leva a necessidade de estudos sobre a repercussão no desenvolvimento das crianças decorrentes do comprometimento do sistema nervoso central (SNC). OBJETIVO: Avaliar o desenvolvimento neuropsicomotor (DNPM) de crianças expostas à infecção congênita pelo Zika vírus e sua associação com características e diagnósticos pré natais, neonatais e pós natais da mãe/criança. MÉTODOS: Estudo transversal com crianças de zero a três anos, nascidas entre 2015 e 2018, classificadas com infecção congênita pelo Zika vírus. Na coleta das características clínicas e sócio demográficas, utilizou-se um questionário semiestruturado e na avaliação do DNPM o Teste de Triagem de Denver II. Na associação, utilizou-se o teste exato de Fisher (p<0,05). RESULTADOS: Avaliou-se 30 crianças, 46,67% apresentavam alterações do DNPM, os maiores foram na linguagem (46,67%) e motricidade fina (43,33%). 23,33% tinham mais que 24 meses, idade que se associou a alterações do DNPM (p<0,012). A infecção predominou entre 4 e 12 semanas de gestação e obteve associação com os atrasos do DNPM (p<0,002). 46,67% das crianças apresentaram microcefalia e 40% calcificações cerebrais, ambos com associação a atrasos no DNPM (p<0,001). Em exame físico 36,7% apresentaram alterações de postura e persistência de reflexos primitivos, 40% hiperirritabilidade, 33,33% disfagia e deformidades articulares, todas com associação importante com as alterações no DNPM (p<0,001). CONCLUSÕES: Crianças expostas à infecção congênita pelo Zika vírus apresentaram atrasos no DNPM e quanto mais precoce a infecção na gravidez, maior o envolvimento do sistema nervoso central.


INTRODUCTION: The proof of the association of microcephaly in Brazil with congenital Zika virus infection leads to the need for studies on the impact on children's development resulting from the involvement of the central nervous system (CNS). OBJECTIVE: To evaluate the neuropsychomotor development (NPMD) of children exposed to congenital Zika virus infection and its association with prenatal, neonatal, and postnatal characteristics and diagnoses of the mother/child. METHODS: Cross-sectional study with children aged zero to three years, born between 2015 and 2018, classified with congenital Zika virus infection. In the collection of clinical and socio-demographic characteristics, a semistructured questionnaire was used, and the Denver II Screening Test was used to assess the DNPM. In the association, Fisher's exact test was used (p<0.05). RESULTS: Thirty children were evaluated; 46.67% had DNPM alterations, the greatest ones were in the language (46.67%) and fine motor skills (43.33%). 23.33% were older than 24 months, an age-associated with changes in DNPM (p<0.012). Infection predominated between 4 and 12 weeks of gestation and was associated with DNPM delays (p<0.002). 46.67% of children had microcephaly and 40% cerebral calcifications, both associated with DNPM delays (p<0.001). On physical examination, 36.7% had changes in posture and persistence of primitive reflexes, 40% hyperirritability, 33.33% dysphagia, and joint deformities, all with an important association with changes in DNPM (p<0.001). CONCLUSIONS: Children exposed to congenital Zika infection had developmental delays. It is noteworthy that the earlier the infection in pregnancy, the greater the involvement of the central nervous system of children.


Subject(s)
Zika Virus , Pregnancy , Neurodevelopmental Disorders
4.
Aval. psicol ; 20(2): 139-150, abr.-jun. 2021. ilus, tab
Article in Portuguese | LILACS, INDEXPSI | ID: biblio-1285431

ABSTRACT

O objetivo do estudo foi adaptar e validar o Questionnaire on Resources and Stress-Short Form (QRS-F), desenvolvido para medir o estresse de pais de crianças com transtornos do desenvolvimento (TD), criando uma versão para a população brasileira, o Questionário de Estresse para Pais de Crianças com Transtornos do Desenvolvimento (QE-PTD). Participaram do estudo 360 pais de crianças com (TD), com idade média de 32,13 anos (DP = 8,19), sendo 65,6% crianças com paralisia cerebral. Após a análise fatorial o resultado, foi o QE-PTD com 32 itens e quatro fatores (Fator I: Incapacidades da Criança; Fator II: Problemas Familiares; Fator III: Restrições Comportamentais; Fator IV: Sobrecarga Emocional). Os quatro fatores explicam 46% da variância com Kuder-Richardson 20 de 0,88 para a escala total. O QE-PTD mostrou correlações moderadas com o Questionário de Saúde Geral e com o Inventário Beck de Depressão. Os resultados mostram índices de confiabilidade e validade satisfatórios. (AU)


The aim of the study was to adapt and validate the Questionnaire on Resources and Stress-Short Form (QRS-F), developed to assess the stress of parents of children with developmental disorders (DD), creating a version for the Brazilian population, the Questionnaire of Stress for Parents of Children with Developmental Disorders (QE-PTD). Study participants were 360 parents of children with DD, with a mean age of 32.13 years (SD = 8.19), 65.6% of whom had children with cerebral palsy. Through factor analysis, the QE-PTD was found to have 32 items and four factors (Factor I: Child's Disabilities; Factor II: Family Problems; Factor III: Behavioral Restrictions; and Factor IV: Emotional Overload). The four factors explained 46% of the variance with a Kuder-Richardson formula 20 value of .88 for the total scale. The QE-PTD presented moderate correlations with the General Health Questionnaire and the Beck Depression Inventory. The results obtained showed satisfactory reliability and validation indices. (AU)


El objetivo del estudio fue adaptar y validar el Questionnaire on Resources and Stress-Short Form (QRS-F), creado para medir el estrés de padres de niños con trastornos del desarrollo (TD), originando una versión brasileña: el Cuestionario de Estrés para Padres de Niños con Trastornos del Desarrollo (QE-PTD). Participaron en el estudio 360 padres de niños con TD, con una edad media de 32,13 años (DS = 8,19), de los cuales 65,6% eran niños con parálisis cerebral. Tras el análisis factorial, el resultado fue el QE-PTD con 32 ítems y cuatro factores (Factor I: Discapacidades del niño; Factor II: Problemas familiares; Factor III: Restricciones conductuales; Factor IV: Sobrecarga emocional) Los cuatro factores explican el 46% de la varianza con Kuder-Richardson 20 de 0,88 para la escala total. El QE-PTD presentó correlaciones moderadas con el Cuestionario de Salud General y el Inventario de Depresión de Beck. Los resultados muestran índices de fiabilidad y validez satisfactorios. (AU)


Subject(s)
Humans , Male , Female , Child, Preschool , Child , Adult , Young Adult , Parent-Child Relations , Stress, Psychological/psychology , Cerebral Palsy , Depression , Neurodevelopmental Disorders/psychology , Psychometrics , Brazil , Adaptation, Psychological , Reproducibility of Results , Factor Analysis, Statistical
5.
Biomédica (Bogotá) ; 41(2): 282-292, abr.-jun. 2021. tab, graf
Article in Spanish | LILACS | ID: biblio-1339267

ABSTRACT

Resumen | Introducción. Las aneuploidías son trastornos genéticos frecuentes en la práctica clínica; sin embargo, se conoce poco sobre las otras variantes genéticas que modifican el fenotipo final. Objetivo. Determinar las variantes en el número de copias y las regiones con pérdida de heterocigosidad autosómica mayor de 0,5 % o de regiones mayores de 10 Mb en neonatos con aneuploidías autosómicas. Materiales y métodos. Se hizo el análisis cromosómico por micromatrices a los neonatos con aneuploidías autosómicas (n=7), trisomía 21 (n=5) y trisomía 18 (n=2) evaluados en los hospitales Antonio Lorena y Regional de Cusco, Perú, en el 2018. Resultados. En dos neonatos se encontraron variantes en el número de copias, patogénicas o probablemente patogénicas, en regiones diferentes al cromosoma 21 o al 18. Además, se observaron dos variantes del número de copias con más de 500 kpb de patogenia desconocida. Conclusiones. Si bien el número de pacientes era muy reducido, es importante resaltar que se encontraron otras variantes en el número de copias que se han descrito asociadas con trastornos del neurodesarrollo, varias anomalías congénitas, hipoacusia y talla baja o alta, entre otras, lo que probablemente influye negativamente en el fenotipo de este grupo de pacientes.


Abstract | Introduction: Aneuploidies are frequent genetic disorders in clinical practice. However, little is known about other genetic variants that may influence the final phenotype. Objective: To determine the variations in the number of copies and regions with homozygosity greater than 0.5% or larger than 10 Mb in newborns with autosomal aneuploidies. Materials and methods: We performed a chromosomal microarray analysis on newborns with autosomal aneuploidies (n=7), trisomy 21 (n=5), and trisomy 18 (n=2) evaluated at the Hospital Antonio Lorena and Hospital Regional of Cusco, Perú, during 2018. Results: We found pathogenic and probably pathogenic variants in the number of copies in other genomic regions different to chromosomes 21 or 18 in two neonates. Additionally, we found two variants bigger than 500 kpb of unknown pathogenicity. Conclusions: Although the number of analyzed individuals was small, it is important to highlight that we found other variants in the number of copies that have been described in association with neurodevelopmental disorders, congenital anomalies, deafness, and short/ tall stature, among others, in almost half of them, which will probably impact the phenotype negatively in patients with aneuploidies.


Subject(s)
DNA Copy Number Variations , Aneuploidy , Infant, Newborn , Deafness , Neurodevelopmental Disorders
6.
Rev. Pesqui. Fisioter ; 11(2): 393-400, Maio 2021. ilus, tab
Article in English, Portuguese | LILACS | ID: biblio-1253544

ABSTRACT

INTRODUÇÃO: Crianças com transtornos do neurodesenvolvimento apresentam uma variedade de condições que, em geral, possuem comprometimento da função cognitiva, bem como limitações para realizar atividades motoras grossas e finas decorrentes do déficit de equilíbrio e da coordenação motora. OBJETIVO: O presente estudo teve por objetivo verificar se a função cognitiva está associada e pode predizer desfechos do desenvolvimento motor grosso em crianças com transtornos do neurodesenvolvimento entre 5 e 10 anos de idade. MATERIAIS E MÉTODOS: Foi realizado um estudo transversal exploratório com 24 crianças com transtornos do neurodesenvolvimento, entre 5-10 anos de idade, capazes de deambular independente. Para avaliar a função cognitiva e as habilidades motoras grossas das crianças foram utilizados o MiniExame do Estado Mental e o Teste de Desenvolvimento Motor Grosso ­ segunda edição, respectivamente. Análise de regressão linear simples foi realizada e o tamanho do efeito calculado. RESULTADOS: Quinze (60%) eram meninos, com idade média de 7,81 (± 1,90), sete com deficiência intelectual, oito com transtorno do espectro autista, cinco com transtorno do déficit de atenção e hiperatividade, dois com transtornos de comunicação e três com transtornos específicos de aprendizagem. A pontuação do Mini-Exame do Estado Mental foi significativamente associada e capaz de explicar a variabilidade das habilidades de locomoção (R2=0,25; p=0,006), das habilidades de controle de objetos (R2=0,29; p=0,003) e do quociente motor grosso (R2=0,40; p=0,0001). CONCLUSÃO: A função cognitiva está associada e pode explicar o desenvolvimento motor grosso de crianças com transtornos do neurodesenvolvimento entre 5 e 10 anos de idade. Esses resultados podem contribuir para um melhor entendimento da influência da função cognitiva no desenvolvimento das habilidades motoras grossas dessa população.


INTRODUCTION: Children with neurodevelopmental disorders have a variety of conditions that, in general, cause cognitive impairments, as well as, limitations to perform gross and fine motor activities resulting from deficits in balance and motor coordination. OBJECTIVE: This study verified whether the cognitive function is associated and could predict outcomes of gross motor development in children with neurodevelopmental disorders between 5 and 10 years of age. METHODS: We carried out an exploratory cross-sectional study with 25 children with neurodevelopmental disorders, between 5-10 years of age, able to walk independently. The children's version of the Mini-Mental State Examination and the Gross Motor Development Test - second edition-evaluated the cognitive function and gross motor abilities. A simple linear regression analysis was performed, and the effect size was calculated. RESULTS: Fifteen (60%) were male, with a mean age of 7.81 (± 1.90), seven with intellectual disability, eight with autism spectrum disorder, five with attention deficit hyperactivity disorder, two with communication disorders, and three with specific learning disorders. The Mini-Exam State Examination score was significantly associated and explained the variability of locomotion skills (R2=0.25; p=0.006), object control skills (R2= 0.29; p=0.003), and the gross motor quotient (R2=0.40; p=0.0001). CONCLUSION: We concluded that cognitive function is associated with gross motor skills and could explain their development in children with neurodevelopmental disorders between 5 and 10 years of age. These results might contribute to a better understanding of the influence of cognitive function on the development of gross motor skills in this population.


Subject(s)
Neurodevelopmental Disorders , Child , Cognition
7.
Rev. cuba. invest. bioméd ; 40(1): e727, ene.-mar. 2021.
Article in Spanish | LILACS, CUMED | ID: biblio-1289446

ABSTRACT

Introducción: Los trastornos de espectro autista se caracterizan por presentar un déficit en la interacción y comunicación social con presencia de patrones repetitivos y restrictivos de comportamiento, intereses y actividades. En ellos estarían implicadas causas genéticas, ambientales y del desarrollo del sistema nervioso central. Un mayor conocimiento de la neuroanatomía y la neurofisiología ayudaría a comprender mejor este trastorno del neurodesarrollo. Objetivo: Profundizar en el conocimiento neuroanatómico y neurofisiológico de los trastornos del espectro autista. Métodos: Se realizó una búsqueda bibliográfica acerca del tema en las bases de datos LILACS, Scopus, SciELO, Pubmed, Medigraphic. Se escogieron 13 documentos, todos correspondientes a artículos originales que abordan el tema desde diferentes aristas. De los documentos, dos fueron localizados en Scopus, uno en Pubmed, cuatro en Medigrafhic, dos en LILACS y cuatro en SciELO. Resultados: Los trastornos de espectro autista se producen por una alteración estructural y funcional de la corteza cerebral. Los estudios de neuroimágenes han demostrado las alteraciones estructurales, fundamentalmente en la corteza prefrontal y sus conexiones, principal región encefálica implicada en la regulación de la conducta social. Las técnicas de secuenciación genómica de nueva generación muestran el origen genético en casos donde los estudios previamente señalados han resultado ser normales. Conclusiones: La profundización del conocimiento neuroanatómico y neurofisiológico de los trastornos de espectro autista permiten comprenderlos mejor(AU)


Introduction: Autism spectrum disorders are characterized by social deficits and communication difficulties, as well as restrictive, repetitive behavior patterns, interests and activities. Their causes may be genetic, environmental or related to the development of the central nervous system. Broader knowledge about neuroanatomy and neurophysiology could lead to a better understanding of this neurodevelopmental disorder. Objective: Gain insight into the neuroanatomy and neurophysiology of autism spectrum disorders. Methods: A bibliographic search about the topic was conducted in the databases LILACS, Scopus, SciELO, Pubmed and Medigraphic. A total 13 documents were selected, all of which were original papers approaching the topic from different perspectives. Two of the documents were obtained from Scopus, one from Pubmed, four from Medigraphic, two from LILACS and four from SciELO. Results: Autism spectrum disorders are caused by a structural and functional alteration of the cerebral cortex. Neuroimaging studies have shown the structural alterations, which mainly occur in the prefrontal cortex and its connections, the principal encephalic region involved in social behavior regulation. New generation genomic sequencing techniques reveal a genetic origin in cases where previous studies have been normal. Conclusions: Broader knowledge about the neuroanatomy and neurophysiology of autism spectrum disorders lead to their better understanding(AU)


Subject(s)
Humans , Male , Female , Social Behavior , Social Control, Formal , Neurodevelopmental Disorders/genetics , Autism Spectrum Disorder/genetics , Neuroanatomy/education , Neurophysiology/education
8.
Article in English | WPRIM | ID: wpr-880377

ABSTRACT

BACKGROUND@#The Hokkaido Study on Environment and Children's Health is an ongoing study consisting of two birth cohorts of different population sizes: the Sapporo cohort and the Hokkaido cohort. Our primary objectives are to (1) examine the effects that low-level environmental chemical exposures have on birth outcomes, including birth defects and growth retardation; (2) follow the development of allergies, infectious diseases, and neurobehavioral developmental disorders, as well as perform a longitudinal observation of child development; (3) identify high-risk groups based on genetic susceptibility to environmental chemicals; and (4) identify the additive effects of various chemicals, including tobacco.@*METHODS@#The purpose of this report is to provide an update on the progress of the Hokkaido Study, summarize recent results, and suggest future directions. In particular, this report provides the latest details from questionnaire surveys, face-to-face examinations, and a collection of biological specimens from children and measurements of their chemical exposures.@*RESULTS@#The latest findings indicate different risk factors of parental characteristics on birth outcomes and the mediating effect between socioeconomic status and children that are small for the gestational age. Maternal serum folate was not associated with birth defects. Prenatal chemical exposure and smoking were associated with birth size and growth, as well as cord blood biomarkers, such as adiponectin, leptin, thyroid, and reproductive hormones. We also found significant associations between the chemical levels and neuro development, asthma, and allergies.@*CONCLUSIONS@#Chemical exposure to children can occur both before and after birth. Longer follow-up for children is crucial in birth cohort studies to reinforce the Developmental Origins of Health and Disease hypothesis. In contrast, considering shifts in the exposure levels due to regulation is also essential, which may also change the association to health outcomes. This study found that individual susceptibility to adverse health effects depends on the genotype. Epigenome modification of DNA methylation was also discovered, indicating the necessity of examining molecular biology perspectives. International collaborations can add a new dimension to the current knowledge and provide novel discoveries in the future.


Subject(s)
Biomarkers/blood , Child , Child Health , Child, Preschool , Cohort Studies , Environmental Exposure/adverse effects , Environmental Health , Environmental Pollutants/adverse effects , Female , Fetal Blood/chemistry , Follow-Up Studies , Growth/drug effects , Humans , Hypersensitivity/etiology , Infant , Japan/epidemiology , Male , Neurodevelopmental Disorders/etiology , Pregnancy , Prenatal Exposure Delayed Effects/etiology , Prevalence , Smoking/adverse effects
9.
Article in Chinese | WPRIM | ID: wpr-879853

ABSTRACT

Neural development is regulated by both external environment and internal signals, and in addition to transcription factors, epigenetic modifications also play an important role. By focusing on the genetic mechanism of ATP-dependent chromatin remodeling in children with neurodevelopmental disorders, this article elaborates on the effect of four chromatin remodeling complexes on neurogenesis and the development and maturation of neurons and neuroglial cells and introduces the clinical research advances in neurodevelopmental disorders.


Subject(s)
Child , Chromatin , Chromatin Assembly and Disassembly , Humans , Neurodevelopmental Disorders/genetics , Neurogenesis , Transcription Factors/genetics
10.
Article in English | LILACS, BBO | ID: biblio-1289990

ABSTRACT

ABSTRACT We report cognitive, language and motor neurodevelopment, assessed by the Bayley-III test, in 31 non-microcephalic children at age 3 with PCR-confirmed maternal Zika virus exposure (Rio de Janeiro, 2015-2016). Most children had average neurodevelopmental scores, however, 8 children (26%) presented delay in some domain. Language was the most affected: 7 children (22.6%) had a delay in this domain (2 presenting severe delay). Moderate delay was detected in the cognitive (3.2%) and motor (10%) domains. Maternal illness in the third trimester of pregnancy and later gestational age at birth were associated with higher Bayley-III scores. Zika-exposed children require long-term follow-up until school age.


Subject(s)
Humans , Female , Pregnancy , Infant , Child, Preschool , Child , Pregnancy Complications, Infectious , Neurodevelopmental Disorders/etiology , Zika Virus , Brazil , Zika Virus Infection/nursing
11.
Rev. cuba. pediatr ; 92(4): e918, oct.-dic. 2020. tab, graf
Article in English | LILACS, CUMED | ID: biblio-1144519

ABSTRACT

Introduction: Neurodevelopmental disorders (NDD) are featured by a delay in the acquisition of motor functions, cognitive abilities and speech, or combined deficits in these areas with the onset before the age of 5 years. Genetic causes account for approximately a half of all NDD cases. Objective: to describe alterations of the genome implied in neurodevelopmental disorders and some aspects of their genetic counseling. Methods: Bibliographic search in Medline, Pubmed, Scielo, LILACS and Cochrane, emphasizing in the last five years, the relationship between the various genetic factors that may be involved in neurodevelopmental disorders. Results: Multiple genetic factors are involved in neurodevelopmental disorders, from gross ones such as chromosomal aneuploidies to more subtle ones such as variations in the number of copies in the genome. Special emphasis is placed on microdeletion-micro duplication syndromes as a relatively frequent cause of NDDs and their probable mechanisms of formation are explained. Final Considerations: Genetic aberrations are found in at least 30-50 percent of children with NDD. Conventional karyotyping allows the detection of chromosomal aberrations encompassing more than 5-7 Mb, which represent 5-10 percent of causative genome rearrangements in NDD. Molecular karyotyping (e.g. SNP array/array CGH) can significantly improve the yield in patients with NDD and congenital malformations(AU)


Introducción: Los trastornos del neurodesarrollo están caracterizados por retardo en la adquisición de las funciones motoras, habilidades cognitivas para el habla o el déficit combinado en estas áreas; se presenta en niños menores de 5 años de edad. Las causas genéticas están implicadas en más de la mitad de los pacientes con estos trastornos Objetivo: Examinar las alteraciones del genoma implicados en los trastornos del neurodesarrollo y algunos aspectos de su asesoramiento genético. Métodos: Búsqueda bibliográfica en Medline, Pubmed, Scielo, LILACS y Cochrane con énfasis en los últimos cinco años, acerca de la relación entre los variados factores genéticos que pueden estar involucrados en los trastornos del neurodesarrollo. Resultados: Los factores genéticos involucrados pueden ser groseros como las aneuploidías cromosómicas hasta los más sutiles como las variaciones en el número de copias en el genoma. Se describen los síndromes de microdeleción-micro duplicación como una causa relativamente frecuente de los trastornos del neurodesarrollo y se explican sus probables mecanismos de formación. Se relacionan las aneuploidías cromosómicas y las variaciones en el número de copia como causas de estos trastornos. Consideraciones finales . Las aberraciones genéticas se encuentran en 30-50 por ciento de los niños con trastornos del neurodesarrollo. El cariotipo convencional permite la detección de aberraciones cromosómicas que abarcan más de 5-7 Mb, lo que representa 5-10 por ciento de los reordenamientos genómicos causales en estos trastornos. El cariotipo molecular (por ejemplo, una matriz de SNP/ CGH de matriz) puede mejorar significativamente la certeza del diagnóstico en pacientes con trastornos del neurodesarrollo y malformaciones congénitas(AU)


Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Chromosome Aberrations , Neurodevelopmental Disorders/genetics , Neurodevelopmental Disorders/epidemiology , Genome, Human/genetics
12.
Medicina (B.Aires) ; 80(6): 685-695, dic. 2020. graf
Article in Spanish | LILACS | ID: biblio-1250292

ABSTRACT

Resumen La diabetes durante el embarazo se asocia a un mayor riesgo perinatológico para los niños. Este puede reducirse significativamente con un control glucémico adecuado en estadios tempranos de la gestación. En la última década nuevos estudios han mostrado los efectos deletéreos de la diabetes materna en la salud de los hijos a largo plazo, como las alteraciones del neurodesarrollo y los efectos sobre el pronóstico educacional y ocupacional. Las mismas pueden ser clasificadas, desde el punto de vista clínico-diagnóstico en tres grupos principales: trastornos del aprendizaje y del desarrollo intelectual, trastorno por déficit de atención e hiperactividad y trastornos del espectro autista. El presente trabajo tiene como objetivo realizar una actualización no sistemática de la evidencia más reciente en el tema y comprender los mecanismos subyacentes que provocan el daño, con el fin de desarrollar estrategias preventivas.


Abstract Diabetes during pregnancy is associated with adverse effects on offspring perinatal outcomes. These could be reduced significantly with an adequate glycemic control in early stages of gestation. In the last decade, new studies have shown the effects of maternal diabetes in the long-term health of the offspring, like impaired neurodevelopment and its impact on educational and occupational outcome. This can be classified, from the clinical and diagnostic perspective, in three main groups: learning and cognitive disorders, attention deficit hyperactivity disorder and autism spectrum disorders. This paper has the objective to give a non-systematic upgrade of the current evidence on the subject, and to understand the underlying mechanisms of adverse neurodevelopmental outcomes which in turn may lead to strategies for its prevention.


Subject(s)
Humans , Female , Pregnancy , Prenatal Exposure Delayed Effects , Attention Deficit Disorder with Hyperactivity/etiology , Diabetes, Gestational/diagnosis , Neurodevelopmental Disorders/etiology , Neurodevelopmental Disorders/epidemiology , Autism Spectrum Disorder
13.
Rev. cuba. pediatr ; 92(4): e1108, oct.-dic. 2020. ilus
Article in Spanish | LILACS, CUMED | ID: biblio-1347526

ABSTRACT

Introducción: El término trastornos del neurodesarrollo incluye diferentes combinaciones de deficiencias en las habilidades esperadas para la edad cronológica de un niño, considerando las esferas motoras, del lenguaje, la socialización, sensorial y el control de esfínter, y en los pacientes afectados pueden asociarse algunas enfermedades (comorbilidad). Objetivo: Examinar las principales comorbilidades crónicas que pueden presentarse en pacientes con trastornos del neurodesarrollo. Métodos: Las fuentes de búsquedas fueron las bases de datos computarizadas: PubMed, Ebsco, SciELO. Además, referencias identificadas en los artículos revisados y que se consideraron importantes y con validez científica. con diez años o menos de publicación, 42/59 se publicaron en los últimos cinco años. Se utilizaron para la búsqueda las palabras clave: trastornos del neurodesarrollo, desarrollo infantil, comorbilidad, trastorno autístico; en idioma español, inglés, o francés, en dependencia de la fuente Resultados: Las comorbilidades más frecuentes, o importantes por su implicación en la vida de los pacientes con trastornos del neurodesarrollo son: la epilepsia, los trastornos de la audición y la visión, las enfermedades mentales, las dificultades en la deglución y el estado nutricional deficiente. Consideraciones finales: La ocurrencia de comorbilidad en pacientes con trastornos del neurodesarrollo es frecuente, puede presentarse en el sistema nervioso o en otros sistemas del organismo y contribuye a que la calidad de vida de estos pacientes se afecte en mayor cuantía(AU)


Introduction: The term neurodevelopmental disorder includes different combinations of deficiencies in the abilities expected for the chronological age of a child, taking into account the motor, speech, socialization, sensorial and sphincter control's scopes, and in the affected patients can be related some diseases (comorbility). Objective: To examine the main chronic comorbilities that can present in patients with neurodevelopmental disorders. Methods: The search sources were computerized databases as: PubMed, Ebsco, SciELO; also references identified in the reviewed articles and that were considered as important and with scientific validity, with ten or less years of being published. 42 of 59 were published in the last five years. There were used for the search the following keywords in Spanish, English and French languages, depending on the source: neurodevelopmental disorders, children development, comorbility, autistic disorder. Results: The most frequent comorbilities or the ones which are important due to their impact in the life of patients with neurodevelopmental disorders are: epilepsy, audition and sight disorders, mental conditions, deglutition difficulty and poor nutritional state. Final considerations: The occurrence of comorbility in patients with neurodevelopmental disorders is frequent; it can be present in the nervous system or in other systems of the body, and it contributes for the life quality of these patients being less affected(AU)


Subject(s)
Humans , Child, Preschool , Child , Adolescent , Attention Deficit Disorder with Hyperactivity , Comorbidity , Neurodevelopmental Disorders , Signs and Symptoms , Child Development , Indicators of Quality of Life , Autism Spectrum Disorder
14.
Med. U.P.B ; 39(2): 49-55, 21/10/2020.
Article in Spanish | LILACS, COLNAL | ID: biblio-1123581

ABSTRACT

La aparición progresiva de habilidades sensoriales, motoras y cognitivo-afectivas en el humano a lo largo de su desarrollo es un reflejo de cambios fisiológicos que se gestan al interior del sistema nervioso. Dichos cambios hacen parte de procesos dinámicos y dependen, después del nacimiento, de la actividad eléctrica inducida por la experiencia. Considerando lo anterior, el sistema nervioso en desarrollo constituye una especie de protomapa, sobre el que la experiencia moldea características moleculares, neuroquímicas y de conectividad, que se reflejan en las actividades emergentes del sistema. La evidencia que soporta la importancia que la influencia experiencial tiene sobre el desarrollo del sistema nervioso viene en aumento. Esta revisión reúne información sobre estudios en modelos biológicos y en humanos sometidos a privación sensorial y ambiental. Se enfatiza en la caracterización de los rasgos cognitivos y sociales.


The progressive advent of sensory, motor, affective, and cognitive skills in the human being through its development, demonstrate physiological changes that are gestated within the nervous system. These processes are dynamic and dependent postnatally on electrical activity induced by experience. Taking this into account, the developing nervous system constitutes a protomap molded by experience dependent molecular, physiological and connectivity characteristics, which are reflected in the emergent principles of the system. The evidence that supports the importance of experience as influence over the development of this system has increased in the past years. This document gathers information about animal models and human studies enduring sensory and environmental deprivation, emphasizing in the characterization of their cognitive and social remarks.


O aparecimento progressivo de habilidades sensoriais, motoras e cognitivo-afetivas no humano ao longo do seu desenvolvimento é um reflexo de mudanças fisiológicas que se gestam no interior do sistema nervoso. Ditas mudanças fazem parte de processos dinâmicos e dependem, depois do nascimento, da atividade elétrica induzida pela experiência. Considerando o anterior, o sistema nervoso em desenvolvimento constitui uma espécie de "protomapa", sobre o que a experiência molda características moleculares, neuroquímicas e de conectividade, que se refletem nas atividades emergentes do sistema. A evidência que suporta a importância que a influência experiencial tem sobre o desenvolvimento do sistema nervoso vem em aumento. Esta revisão reúne informação sobre estudos em modelos biológicos e em humanos submetidos a privação sensorial e ambiental. Se enfatiza na caracterização das características cognitivas e sociais.


Subject(s)
Humans , Animals , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Adult , Neurodevelopmental Disorders , Reflex , Sensory Deprivation , Synapses , Cognition , Models, Animal , Growth and Development , Models, Biological , Nervous System , Neuronal Plasticity
15.
Rev. Asoc. Odontol. Argent ; 108(2): 41-45, mayo-ago. 2020.
Article in Spanish | LILACS | ID: biblio-1120976

ABSTRACT

La atención de salud abre una ventana de reflexiones compartidas entre los distintos actores que convergen hoy alrededor de la infancia y la adolescencia: profesionales de la salud, de la educación, instituciones y familias. El desarrollo humano implica una interacción dinámica. El conjunto de cuidados que conforman la crianza tiene lugar en múltiples contextos: la casa, la familia extendida, la escuela y la sociedad, cuyos valores, creencias y prácticas definen la cultura. Somos parte de una realidad que está evolucionando y creciendo en complejidad, en un escenario multifactorial y polifacético. Emergen enfermedades que, si bien son conocidas por parte de los profesionales de la salud, ganan una importancia creciente en la sociedad actual. Varias de estas patologías emergentes vienen catalizadas por factores medioambientales y por determinantes de tipo social que antes tenían una influencia menor o que, sencillamente, no se tenían en cuenta. Las transformaciones que experimentan los/as niños/as existen de manera visible, por lo que se hace imprescindible que madres, padres, docentes y profesionales de la salud, desde nuestro lugar de adultos, actuemos con responsabilidad en todos los espacios en los que deambulan los/as niños/as y los/as adolescentes de hoy (AU)


Health care opens a window for shared reflections among the different people who interact with children and adolescents: family, health professionals, educators and institutions today. Human development involves dynamic interaction. Care takes place in multiple contexts: the immediate and the extended family, the school and society with its values, beliefs and practices that define the culture where the individual grows up. We are part of a reality that is evolving and growing in complexity, facing a multifactorial and multifaceted scenario. A number of diseases while known by health professionals, gain increasing importance in today's society. Several of these emerging pathologies are catalyzed by environmental factors and by social determinants that previously had less influence or that were simply not taken into account. The transformations that the child undergoes nowadays are visible, and for that reason, it is essential that mothers, fathers, teachers and health professionals viewed from our position as adults, act responsibly in all the spaces where children and adolescents of today are (AU)


Subject(s)
Humans , Male , Female , Child , Child Behavior , Child Health , Adolescent Medicine , Parent-Child Relations , Argentina , Pregnancy in Adolescence , Suicide , Tobacco Use Disorder , Violence , Feeding and Eating Disorders , Disabled Persons , Depression , Alcoholism , Neurodevelopmental Disorders , Gender Identity , Obesity
16.
Medicina (B.Aires) ; 80(supl.2): 26-30, mar. 2020. tab
Article in Spanish | LILACS | ID: biblio-1125102

ABSTRACT

Los avances en la genética han podido apoyar la sospecha que aportaba la experiencia clínica sobre el gran componente hereditario de la mayor parte de estos trastornos del neurodesarrollo (TND). Los estudios iniciales de heredabilidad, ligamiento o asociación evidenciaron desde los inicios la gran contribución de la variación genotípica a la clínica en general, y a los TND en particular. No debe obviarse la utilidad de los estudios genéticos en el ejercicio clínico, encaminados al diagnóstico etiológico. La mayor parte de los mismos están protocolizados en el estudio de trastornos como la discapacidad intelectual y el autismo; dentro de éstos, la hibridación por arrays cromosómicos ha aportado una mayor rentabilidad diagnóstica respecto a técnicas citogenéticas históricas (3 vs. 10% respectivamente). Sin embargo, la irrupción y rentabilidad de técnicas de genética molecular por secuenciación, particularmente la exómica y genómica en trío, analizando a padres, (tasas diagnósticas del 30-50%), están condicionando la modificación de los algoritmos genéticos en el diagnóstico de trastornos graves del neurodesarrollo. El mayor conocimiento de variantes causales de discapacidad intelectual y autismo está igualmente modificando los modelos teóricos poligénicos establecidos hasta la fecha.


Advances in genetics have been able to support the clinical suspicion on the large hereditary component of most of these neurodevelopmental disorders (NDD). Initial studies on heritability, linkage or association showed from the beginning the great contribution of genotypic variation to the clinic in general, and to NDD in particular. The effectiveness of genetic studies in clinical practice, targeted to aetiological diagnosis, should not be ignored. Most of these are protocolized in the study of disorders such as intellectual disability and autism; within these, the array comparative genomic hybridization have supported a greater diagnostic effectiveness with respect to historical cytogenetic techniques (3 vs. 10% respectively). However, the irruption and success of molecular genetic sequencing techniques, particularly the exome and genome in trio, analyzing the parents (diagnostic rates of 30-50%), are conditioning the modification of the genetic algorithms in the diagnosis of different NDD. The greater knowledge of causal variants in intellectual disability and autism is also modifying the polygenic theoretical models established to date.


Subject(s)
Humans , Neurodevelopmental Disorders/genetics , Models, Genetic , Comparative Genomic Hybridization/methods , Neurodevelopmental Disorders/diagnosis , Autism Spectrum Disorder/diagnosis , Autism Spectrum Disorder/genetics , Whole Exome Sequencing/methods , Intellectual Disability/diagnosis , Intellectual Disability/genetics
17.
Med. infant ; 27(1): 10-16, Marzo de 2020. tab
Article in Spanish | LILACS, BINACIS, UNISALUD | ID: biblio-1118522

ABSTRACT

El objetivo de este trabajo fue la evaluación funcional del neurodesarrollo de niños que requirieron terapias complejas neonatales entre los 24 y 30 meses de vida. Se incluyeron 104 pacientes evaluados en el Servicio de Clínicas Interdisciplinarias del Neurodesarrollo del Hospital de Pediatría Juan P. Garrahan, mediante pruebas estandarizadas; cuestionarios auto administrados y datos extraídos del interrogatorio, el examen físico y la historia clínica. A partir de los mismos los pacientes fueron agrupados según el grado de compromiso de su funcionalidad en dos grupos: el primero sin compromiso o compromiso leve y el segundo con compromiso moderado o severo. La evaluación funcional intenta desde una perspectiva biopsicosocial evaluar las habilidades, las dificultades y las características del entorno, que pueden ser tanto facilitadores como barreras para el desarrollo de la persona. De esta manera, permite un abordaje holístico del paciente y muestra como gran fortaleza frente a los diagnósticos categórico y etiológico, la adecuación de los sistemas de apoyos necesarios para cada paciente particular. En concordancia con la bibliografía sobre el riesgo biológico aumentado de esta población, el 44.2% de los niños de la muestra se encontraron dentro del grupo con compromiso funcional moderado/severo. En el análisis univariado las variables que presentaron asociación significativa con el grado de severidad del funcionamiento fueron la prematurez extrema, la displasia broncopulmonar, las lesiones en las ecografías cerebrales neonatales, internaciones neonatales prolongadas y los síndromes genéticos. Entre los factores medio-ambientales, se encontró asociación con progenitor solo y necesidad básicas insatisfechas (AU)


The aim of this study was the functional assessment of the neurodevelopment of children who require complex neonatal interventions between 24 and 30 months of life. Overall, 104 patients were evaluated at the Department of Interdisciplinary Clinics of Neurodevelopment at Hospital de Pediatría Juan P. Garrahan, with standardized tests, self-administered questionnaires and data gleaned from the interview, physical examination, and clinical records. Based on these data, the patients were divided into two groups according to the degree of functional involvement: a first group without or with mild functional compromise and a second group with moderate or severe compromise. From a biopsychosocial perspective, the purpose of functional assessment is the evaluation of skills, difficulties, and environmental characteristics that may be either facilitators or barriers to personal development. Thereby the assessment allows for a holistic approach of the patient and, unlike categorical and etiologic diagnosis, may lead to the adequate selection of the necessary support systems for each individual patient. In agreement with the literature on the increased biological risk in this population, 44.2% of the children in this sample were in the moderate/severe functional compromise group. In univariate analysis, the variables that were statistically significantly associated with degree of severity of function were extreme prematurity, bronchopulmonary dysplasia, lesion on neonatal ultrasonography, prolonged neonatal hospitalization, and genetic syndromes. Among environmental factors a significant association was found with a single parent and unsatisfied basic needs (AU)


Subject(s)
Humans , Child, Preschool , Psychomotor Disorders/diagnosis , Child Development , Developmental Disabilities , Premature Birth , Neurodevelopmental Disorders/diagnosis , Language Development Disorders/diagnosis , Bronchopulmonary Dysplasia , Prospective Studies , Cohort Studies , Heart Defects, Congenital/surgery , Genetic Diseases, Inborn
18.
Arch. argent. pediatr ; 118(1): 52-56, 2020-02-00. tab, ilus
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1095588

ABSTRACT

El amplio espectro de aberraciones cromosómicas observable en los trastornos del neurodesarrollo no siempre puede ser caracterizado por análisis cromosómico. El objetivo del trabajo fue determinar la etiología genética de estos trastornos en pacientes con afecciones neurológicas congénitas y sospecha clínica de un síndrome genético, aplicando un algoritmo de estudio clínico-molecular. En 71 de 111 niños analizados, se hallaron aberraciones submicroscópicas asociadas a síndromes de microdeleción-microduplicación: DiGeorge (22 casos), Prader-Willi (26 casos), Angelman (2 casos), Williams-Beuren (17 casos), Smith-Magenis (1 caso), Miller-Dieker (1 caso) y síndrome cri du chat (1 caso). Adicionalmente, se detectó una inserción desbalanceada de novo de la región 17p12p11.2, en el punto 5p13.1, en un niño de tres años. La utilización del método clínico unido a técnicas moleculares, como hibridación fluorescente in situ, ha permitido, en la mayoría de los casos, el diagnóstico certero de pacientes y/o familias con trastornos del neurodesarrollo.


The wide range of chromosome aberrations seen in neurodevelopmental disorders may not always be characterized by means of a chromosome analysis. The objective of this study was to determine the genetic etiology of these disorders in patients with congenital neurological conditions and clinical suspicion of a genetic disorder using a clinical and molecular testing algorithm. Among 111 studied children, 71 showed submicroscopic chromosome aberrations associated with microdeletion/microduplication syndromes: DiGeorge (22 cases), Prader-Willi (26 cases), Angelman (2 cases), Williams-Beuren (17 cases), Smith-Magenis (1 case), Miller-Dieker (1 case), and cri du chat syndrome (1 case). Additionally, a de novo trisomy 17p12p11.2 due to an unbalanced insertion into 5p13.1 was identified in a 3-year-old child. In most cases, the use of a clinical method together with molecular techniques, such as fluorescence in situ hybridization, has allowed to make an accurate diagnosis in patients and/or families with neurodevelopmental disorders.


Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Neurodevelopmental Disorders/diagnosis , Genetic Diseases, Inborn/diagnosis , Syndrome , Algorithms , Developmental Disabilities , Retrospective Studies , In Situ Hybridization, Fluorescence , Critical Pathways , Neurodevelopmental Disorders/etiology , Genetic Counseling
19.
Fisioter. Pesqui. (Online) ; 27(1): 41-47, jan.-mar. 2020. tab
Article in Portuguese | LILACS | ID: biblio-1090407

ABSTRACT

RESUMO As cardiopatias congênitas (CC) estão entre as principais causas de morbimortalidade na primeira infância e os lactentes com essa condição podem apresentar atrasos no desenvolvimento neuropsicomotor (DNPM). O objetivo deste estudo foi avaliar a influência da CC no DNPM de lactentes. Trata-se de um estudo observacional com avaliação do desenvolvimento neuropsicomotor realizada pela Bayley Scales of Infant and Toddler Development (BSID-III). As condições maternas e clínicas dos lactentes foram verificadas no relatório de alta médica e na caderneta de saúde da criança, e a condição socioeconômica das famílias pelo Critério da Classificação Econômica Brasil. Para associar as variáveis clínicas e o DNPM foram utilizados o coeficiente de correlação de Spearman e o teste de razão de verossimilhança. Foram avaliados 18 lactentes, com predomínio do sexo feminino (72,2%). A maioria das mães (47,1%) possuía ensino médio completo ou superior incompleto, com média da idade de 27,2±5,5 anos. Houve correlação das escalas do BSID-III com as variáveis quantitativas analisadas: escala motora com o peso (p=0,02 e r=0,54) e com uso de oxigenoterapia (p=0,009 e r=−0,591); já para as variáveis qualitativas as associações foram entre: escala motora e condição socioeconômica (p=0,015), escala motora e comunicação interatrial - (CIA) (p=0,023) e escala da linguagem e CIA (p=0,038). A CC influenciou o DNPM, principalmente no aspecto motor. Além disso peso, diagnóstico de CIA, uso de oxigenoterapia e condição socioeconômica foram considerados como principais fatores de risco para o atraso no DNPM.


RESUMEN Las cardiopatías congénitas (CC) se encuentran entre las principales causas de morbimortalidad en la primera infancia, y los lactantes con esta afección pueden tener retrasos en el desarrollo neuropsicomotor (DNPM). El presente estudio tuvo el objetivo de evaluar la influencia de las CC en el DNPM de los lactantes. Este es un estudio observacional en el cual se evaluó el desarrollo neuropsicomotor utilizando la Bayley scales of infant and toddler development (BSID-III). Las condiciones maternas y clínicas de los lactantes se obtuvieron en el informe de alta médica y en la libreta de salud del niño, y el estado socioeconómico de las familias en el Criterio de Clasificación Económica de Brasil. Para asociar las variables clínicas y el DNPM, se utilizaron el coeficiente de correlación de Spearman y la prueba de razón de probabilidad. Se evaluaron a 18 lactantes, con un predominio del sexo femenino (72,2%). La mayoría de las madres (47,1%) tenían la secundaria completa o la educación superior incompleta, con una edad promedio de 27,2±5,5 años. Hubo una correlación entre las escalas BSID-III y las variables cuantitativas analizadas: escala motora con el peso (p=0,02 y r=0,54) y con el uso de oxigenoterapia (p=0,009 y r=−0,591); para las variables cualitativas, las asociaciones fueron entre: escala motora y estado socioeconómico (p=0,015), escala motora y comunicación interauricular (CIA) (p=0,023) y escala de lenguaje y CIA (p=0,038). Las CC influyeron en el DNPM, principalmente en el aspecto motor. Además, el peso, el diagnóstico de CIA, el uso de oxigenoterapia y el estado socioeconómico fueron considerados los principales factores de riesgo para el retraso en el DNPM.


ABSTRACT Congenital heart defects (CHD) are among the main causes of morbidity and mortality in infants who has this impairment may present delays in neuropsychomotor development (NPMD). This study assesses the influence of CHD on NPMD of infants. This is an observational study assessing neuropsychomotor development performed by Bayley Scales of Infant and Toddler Development - BSID-III. The Brazilian Economic Classification Criteria was used to verify the socioeconomic status of the families and also the maternal and infants' clinical conditions were verified in the medical discharge report and in the child's health handbook. For the association between the quantitative and qualitative variables with the NPMD, the Spearman's correlation coefficient and the likelihood ratio test were used. A total of 18 infants were assessed, with a predominance of females (72.2%). Most mothers (47.1%) had complete high school or incomplete higher education, with a mean age of 27.2±5.5 years. There was a correlation between the BSID-III scales and the quantitative variables analyzed: motor scale with weight (p=0.02 and r=0.54) and oxygen therapy (p=0.009 and r=−0.591); besides that, the qualitative variables correlation were: motor scale and socioeconomic condition (p=0.015), motor scale and Interatrial Communication - IAC (p=0.023) and language with IAC scales (p=0.038). CHD influences the delay of NPMD, mainly for motor aspect. Furthermore, weight, diagnosis of IAC, use of oxygen therapy and socioeconomic status were considered the main risk factors for the delay in NPMD.


Subject(s)
Humans , Infant , Psychomotor Disorders/etiology , Motor Skills Disorders/etiology , Neurodevelopmental Disorders/etiology , Heart Defects, Congenital/complications , Oxygen Inhalation Therapy/adverse effects , Psychomotor Disorders/diagnosis , Socioeconomic Factors , Child Development/physiology , Cross-Sectional Studies , Cognition Disorders/diagnosis , Cognition Disorders/etiology , Motor Skills Disorders/diagnosis , Neurodevelopmental Disorders/diagnosis , Hospitalization , Language Disorders/diagnosis , Language Disorders/etiology , Length of Stay , Neuropsychological Tests
20.
Rev. eletrônica enferm ; 22: 1-7, 2020.
Article in English, Portuguese | LILACS, BDENF | ID: biblio-1119402

ABSTRACT

Objetivo: Identificar a qualidade de vida relacionada à saúde de cuidadores de crianças com transtornos do neurodesenvolvimento e analisar os fatores associados. Método: Estudo com delineamento observacional, transversal de abordagem quantitativa. Aplicado instrumento de caracterização e The Medical Outcomes Study 36-Item Short em 25 cuidadores. Utilizou-se o teste de Mann-Whitney e Correlação de Spearman, com nível de significância de 5%. Dentre os domínios da qualidade de vida relacionada à saúde, vitalidade e dor apresentaram os menores escores. Houve diferença significativa entre crença religiosa e os domínios aspectos sociais (p=0,046) e saúde mental (p=0,008) e, entre estado marital e os domínios aspectos sociais (p=0,029) e aspectos emocionais (p=0,035). Observou-se correlação negativa entre capacidade funcional e idade do cuidador. Conclusão: Cuidadores de crianças com transtornos do neurodesenvolvimento se percebem cansados e pouco dispostos. Crença religiosa, estado marital e idade se constituíram em fatores relacionados.


Objective: To identify the health-related quality of life of caregivers of children with neurodevelopmental disorders and analyze the associated factors. Method: Observational, cross-sectional, quantitative study. A characterization instrument and The Medical Outcomes Study 36-Item Short were applied to 25 caregivers. The Mann-Whitney test and the Spearman's correlation were used with a significance level of 5%. Among the health-related quality of life domains, vitality and bodily pain had the lowest scores. There was a significant difference between religious belief and social role functioning (p=0.046) and mental health (p=0.008) domains; and between marital status and the domains of social role functioning (p=0.029) and emotional role functioning (p=0.035). There was a negative correlation between physical functioning and the caregiver's age. Conclusion: Caregivers of children with neurodevelopmental disorders feel tired and unwell. Religious belief, marital status and age were related factors.


Subject(s)
Humans , Male , Female , Quality of Life , Caregivers , Neurodevelopmental Disorders
SELECTION OF CITATIONS
SEARCH DETAIL