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1.
Article | IMSEAR | ID: sea-228604

ABSTRACT

Background: The survival of very low birth weight babies has significantly improved in recent years. Postnatal growth has an impact on neurodevelopment and hence identifying the risk factors that curb growth is crucial.Methods: We did a retrospective cohort study over 3 months in our NICU studying 40 very low birth weight babies. Our objective was to observe the time taken to regain birth weight and study the risk factors affecting postnatal weight gain.Results: Among the 40 babies studied, 22 babies had significant delay in regaining birth weight. Risk factors such as birth weight, birth asphyxia, parenteral nutrition, respiratory distress syndrome, surfactant requirement, patent ductus arteriosus, necrotizing enterocolitis, sepsis, hyperbilirubinemia, anemia had statistically significant association with delay in regaining birth weight.Conclusions: Many studies have established a linear correlation between postnatal growth velocity and neurodevelopmental outcome. Ascertaining and managing the factors affecting weight gain in very low birth weight babies is essential and challenging part and anticipating the risk factors in advance helps us to achieve desirable weight gain in these babies.

2.
Med. infant ; 31(2): 199-205, Junio 2024. Tab
Article in Spanish | LILACS, UNISALUD, BINACIS | ID: biblio-1568106

ABSTRACT

La transición de la atención pediátrica a la de adultos, en adolescentes y jóvenes con condiciones crónicas de salud, es un proceso necesario y difícil. El proceso de transición de estos pacientes contará con diferentes matices según la condición de salud, las características del sistema sanitario, los equipos de salud involucrados y los factores contextuales del joven y su familia. El objetivo central es que a través de una autonomía progresiva el joven llegue a ser un adulto competente en cuanto a asumir y manejar sus necesidades de salud, relaciones sociales y laborales que su enfermedad crónica le permita. Pero estos objetivos se ven interferidos cuando hablamos de jóvenes con condiciones crónicas que involucran el neurodesarrollo y es más complejo aún cuando nos referimos a jóvenes que no serán autónomos. Para las familias y cuidadores de estos jóvenes los centros pediátricos son un entorno más protegido que cuesta dejar. Por todo esto es que, si bien hay lineamientos generales a tener en cuenta, cada equipo debe revisar sus resultados para poder avanzar. Aún no se logró consenso acerca de cuál es el momento óptimo, la edad y las mejores estrategias, aunque es reconocida la dificultad para implementar un programa adecuado y más aún evaluar los resultados de los programas que se utilizan en la transición; se llevan adelante programas "genéricos" utilizados para diferentes enfermedades crónicas, o específicos para una enfermedad, otros programas combinan ambas estrategias. Basados en lo anterior hay jóvenes y familias que requieren un armado "artesanal y a medida" (AU)


The transition from pediatric to adult care for adolescents and young people with chronic health conditions is a necessary yet challenging process. This transition will vary depending on the health condition, the characteristics of the health system, the health teams involved, and the contextual factors of the youth and their family. The central objective is for the youth to achieve progressive autonomy, becoming a competent adult capable of managing their health needs, social, and work relationships, as allowed by their chronic disease. However, these objectives become more complicated when dealing with young people with chronic conditions involving neurodevelopment, and even more so for those who will never achieve autonomy. For the families and caregivers of these youths, pediatric centers offer a more protected environment that is difficult to leave. For all these reasons, while general guidelines should be considered, each team must review its results to move forward. Consensus has not yet been reached on the optimal time, age, and best strategies for transition. It is recognized that implementing an adequate program is challenging, and evaluating the results of these programs is even more difficult. There are "generic" programs used for various chronic diseases, as well as disease-specific programs, and some programs combine both strategies. Given these complexities, some young people and their families require a "handcrafted and tailor-made" approach (AU)


Subject(s)
Humans , Adolescent , Adult , Patient Care Team , Continuity of Patient Care , Transition to Adult Care/organization & administration , Neurodevelopmental Disorders/therapy , Intellectual Disability/therapy , Family , Chronic Disease
3.
Article | IMSEAR | ID: sea-228569

ABSTRACT

Background: Perinatal asphyxia refers to a condition during the first and second stage of labor and soon after birth in which impaired gas exchange leads to acidosis, hypoxemia, and hypercarbia. The Doppler technique is a non-invasive method that can be used at the bed side without disturbing patients, for risk of subsequent neurodevelopment impairment in HIE. It has been proven that impaired cerebral circulation plays the main role in the pathogenesis of hypoxic ischemic brain injury in neonates.Methods: Doppler sonography conducted in all enrolled subjects. Cerebral blood flow parameters-peak systolic velocity, end diastolic velocity and resistive index were measured in anterior cerebral artery bilaterally on parasagittal planes obtaining the images through the anterior fontanelle with in first 72 hours.Results: In our study we found that death during hospital stay in neonates with normal RI and abnormal RI is 13% and 28.6% respectively (p<0.01). Abnormal neurological outcome of 70.6% at 6 months and 64.7% at 12 months in patients with abnormal RI and 23.3% at 6 months and 18.6% at 12 months in patients with normal RI (p<0.01).Conclusions: There is a significant correlation between neurodevelopmental disabilities and cerebral blood flow parameters in neonates with hypoxic ischemic encephalopathy. Detection of increased or decreased in cerebral blood flow velocities in neonates with in first 72 hours postpartum has a significant prognostic value related to death and long-term neurodevelopmental outcome.

4.
Article | IMSEAR | ID: sea-228668

ABSTRACT

Background: Neonates are susceptible to neurodevelopmental impairments due to various factors. The aim of the study was to use the n-RNDA tool to identify such impairments in neonates, enabling early interventions for improved outcomes.Methods: This facility-based cross-sectional study was conducted in Square Hospital Child Development Center from April 2019 to Nov 2021 with all neonates between ages of 15-28 days. A total 2928 neonates were enrolled and underwent n-RNDA assessment for detection of any types of neurodevelopmental impairments.Results: Among 2928 enrolled neonates, 8.1% exhibited neurodevelopmental impairments. Majority (60.6%) were from the NICU. Impairments varied across domains, with gross motor skills (99.2%) being most prevalent. Causes included respiratory distress syndrome (74%), sepsis (60%), and others. The study population was primarily urban (99.1%), with 100% parental literacy.Conclusions: The n-RNDA screening program for neonates facilitates early assessment, interventions, and long-term follow-up, potentially enhancing outcomes and quality of life. These findings advocate for policy development to institutionalize n-RNDA for early diagnoses and better outcomes in all neonates.

5.
Bol. méd. Hosp. Infant. Méx ; 81(1): 36-43, Jan.-Feb. 2024. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1557187

ABSTRACT

Abstract Background: Early detection of suspected neurodevelopmental delay allows for timely diagnosis and appropriate intervention, for which numerous screening tests have been developed. However, most are complex and impractical for health-care workers at the community level. This study aimed to validate the KARVI scale in the neurodevelopment assessment of children under 1 year of age. Methods: We conducted an observational, longitudinal, comparative, inferential, and prospective study. Healthy children without risk factors for developing neurodevelopmental delay from 0 to 12 months of age were evaluated remotely using the Zoom® application. The Child Development Evaluation Test and the KARVI scale were applied once a month for four consecutive months. Results: Fifty individuals were analyzed, with a predominance of males in 52%. Adequate percentages for a screening test were obtained in the first evaluation with a sensitivity of 70% (confidence interval [CI] 95% 34.75-93.33) and a specificity of 75% (CI 95% 58.8-87.31), and in the fourth evaluation with a sensitivity of 100% (CI 95% 29.4-100) and a specificity of 78.72% (CI 95% 64.34-89.3), being significant in both evaluations (p = 0.007 and p = 0.001, respectively). Conclusions: The KARVI scale has the elements to be an effective screening test for suspected neurodevelopmental delay, but more extensive studies are needed to obtain more reliable results.


Resumen Introducción: La identificación temprana de retraso en el neurodesarrollo permite un diagnóstico oportuno y una intervención apropiada. Para ello, se han creado diversas pruebas de tamizaje; sin embargo, la mayoría son complejas y poco prácticas para el personal de la salud a nivel comunitario. El objetivo del estudio fue realizar la validación de la escala KARVI en la valoración del neurodesarrollo en niños menores de un año. Métodos: Se realizó un estudio observacional, longitudinal, comparativo inferencial y prospectivo, en el cual se evaluaron, vía remota mediante la aplicación Zoom®, niños sanos de 0 a 12 meses de edad sin factores de riesgo para desarrollar retraso en el neurodesarrollo. Se aplicaron la prueba EDI (Evaluación del Desarrollo Infantil) y la escala KARVI una vez al mes por cuatro meses consecutivos. Resultados: Se analizaron 50 individuos, con predominio del sexo masculino en el 52%. Se obtuvieron porcentajes adecuados para una prueba de tamizaje tanto en la primera evaluación, con sensibilidad de 70% (IC 95% 34.75-93.33) y especificidad de 75% (IC 95% 58.8-87.31), como en la cuarta, con sensibilidad de 100% (IC 95% 29.4-100) y especificidad de 78.72% (IC 95% 64.34-89.3), con significación estadística en ambas evaluaciones (p = 0.007 y p = 0.001, respectivamente). Conclusiones: Se considera que la escala KARVI cuenta con los elementos para considerarla como una prueba de tamizaje efectiva para detectar retraso del neurodesarrollo, sin embargo. Sin requieren estudios más extensos para obtener resultados más confiables.

6.
Military Medical Sciences ; (12): 148-153, 2024.
Article in Chinese | WPRIM | ID: wpr-1018889

ABSTRACT

The important role of liquid-liquid phase separation in a series of biological processes,including regulation of gene transcription and translation,stress response,autophagy and the establishment of synaptic structure,has been widely accepted.Abnormal phase separation is associated with many human diseases,including neurodevelopmental disorders and neurodegenerative diseases.Studies have shown that some proteins associated with epigenetic modifications are also subject to liquid-liquid phase separation,suggesting that epigenetic modifications regulate the development and disease of the nervous system by regulating phase separation.This review summarized the important roles of epigenetic modification and phase separation in neurodevelopment and neurodiseases,and focused on the important roles of proteins related to epigenetic modification with phase separation characteristics.Understanding the correlation between epigenetic modification and phase separation will help fully understand the underlying mechanisms of neurodevelopment and neurodiseases,and will further provide new targets and strategies for the treatment of related diseases.

7.
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1569852

ABSTRACT

Fundamento: El cerebro durante la etapa prenatal es uno de los órganos más afectados por factores teratógenos, por ejemplo la Diabetes Mellitus Pregestacional. Su efecto sobre este en esta etapa requiere un mayor conocimiento porque es un importante predictor de problemas cognitivos y psicológicos en la edad adulta. Para el estudio de la corteza cerebral resultan muy útiles los modelos animales, combinados con técnicas morfométricas tendremos una mayor precisión a la hora de establecer las causas que condicionan el daño. Objetivo: Determinar las posibles diferencias de los indicadores morfométricos nucleares: área, volumen, y factor de forma en las neuronas de la corteza cerebral temporal de gazapos de ratas Wistar normal y en un modelo animal con diabetes mellitus pregestacional. Métodos: Se realizó un estudio experimental básico con 16 cerebros de gazapos de ratas Wistar en el período comprendido entre junio 2021 a junio 2022 en la Universidad de Ciencias Médicas de Holguín. Dichos cerebros se organizaron en dos grupos de ocho cada uno. Un grupo control con los procedentes de gazapos de ratas sanas y un grupo casos con los cerebros de gazapos de ratas diabéticas. Se estudiaron indicadores morfométricos nucleares como el área, el volumen y el factor de forma. Resultados: El área y el volumen nuclear muestran valores superiores en el grupo control .El valor del factor de forma no mostró diferencias. Conclusiones: Los resultados obtenidos traducen que la Diabetes Mellitus Pregestacional puede causar daño a las neuronas del tejido nervioso de la zona cerebral estudiada.


Background: The brain during the prenatal stage is one of the organs most affected by teratogenic factors such as Pregestacional Diabetes Mellitus. Its effect on it during these stages requires greater knowledge because it is an important predictor of cognitive and psychological problem in age adult. For the study of the cerebral cortex, animal models are very useful, combined with morphometric techniques, greater precision will be obtained when establishing the causes to determinate the damage. Objective: To determine the possible differences of the nuclear morphometric indicators: area, volume and shape factor in the neurons of the temporal cerebral cortex of normal Wistar rat kits and in an animal model with pregestacional diabetes mellitus. Method: A basic experimental study was carried out with 16 brains of Wistar rats in the period from June 2021 to June 2022 at the University of Medical Sciences of Holguín. These brains were organized into two groups of eight each. A control group with those from healthy rat kits and a case group with brain from diabetic rats kits. Nuclear morphometric indicators such as area, volume and shape of factor were studied. Results: The area and the nuclear volume show superior values in the control group. The value of the shape factor did not show significant difference. Conclusions: the results obtained show that Pregestational Diabetes Mellitus can cause damage to the neurons of the nervous tissue of the brain area studied.

8.
Article | IMSEAR | ID: sea-233697

ABSTRACT

Maternal hyperthermia, defined as a body temperature above 38°C (100.4°F) is due to various etiologies during pregnancy, and has been a subject of growing research interest. This phenomenon is considered a potential environmental teratogen contributing to the development of neural tube defects (NTDs) and other neurodevelopmental disorders. NTDs such as anencephaly and spina bifida, are known to be multifactorial in origin, resulting from a complex interplay between genetic and environmental factors. In this review, we aim to comprehensively analyze the effect of maternal hyperthermia on neurodevelopmental disorders and associated congenital anomalies. In addition, we will highlight both the infectious and noninfectious causes of maternal hyperthermia, as well as any risks and potential preventive measures. The literature search identified studies reporting associations between maternal hyperthermia and adverse fetal outcomes. We have evaluated the link between maternal fever due to infections during pregnancy and the increased likelihood of NTDs, particularly anencephaly and spina bifida, as well as Neurodevelopmental disorders. ??In addition, the effects of non-infectious causes of maternal hyperthermia, including exercise and exposure to heat sources like saunas and hot tubs, on neurodevelopment have also been studied with varying degrees of evidence. Maternal hyperthermia elevates the risk of NTDs and neurodevelopmental disorders in infants, with folic acid offering partial protection, while other factors elevate this risk. However, further research is needed to define the precious association of these factors.

9.
Article | IMSEAR | ID: sea-228400

ABSTRACT

Backgroung: hypoxic ischemic encephalopathy. There are very few studies comparing the neurodevelopmental outcomes in neonates with moderate to severe HIE who received and not received TH. Objective was assessment of neurodevelopmental outcome between TH and non-TH group till last follow-up.Methods: Hospital Based Prospective study. All term neonates with Moderate to severe birth asphyxia with HIE who received TH and not received TH, admitted in NICU of BalChikitsalay, RNTMC, Udaipur, consenting for the study were followed up at age 3-6 month, 6-12 month, 12-18 month and 18-24 month from September 2018 to February 2021 and neurodevelopment outcome was assessed.Results: 70 neonates with birth asphyxia HIE II / III were included in the study, 35 in TH group and 35 in non-TH group. Out of 70 babies enrolled 46 (65.7%) were having normal development and 24 (34.3%) were having development delay. Out of 46 who were having development delay 6 (17.4%) were of TH group and 18 (51.4%) were of non-TH group. Most of the babies of TH group i.e., 30 (85.7%) were neurodevelopmentally normal and 5 (14.3%) were having some neurodevelopmental abnormality. In non-TH group 15 (42.8%) were normal and 20 (57.2%) were having some neurodevelopmental abnormality.Conclusions: Results of the study showed significantly better outcome in infant who received therapeutic hypothermia than those who did not.

10.
Medicina (B.Aires) ; Medicina (B.Aires);83(supl.4): 52-56, oct. 2023.
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1521202

ABSTRACT

Resumen Las enfermedades raras y enfermedades sin diag nóstico se han posicionado en los últimos años como condiciones clínicas que han permitido avanzar el en tendimiento de las funciones de los genes y el im pacto en el desarrollo del individuo. En esta revisión, presentamos como los esfuerzos individuales hechos por muchos años para entender la fisiopatología de en fermedades comunes, enfermedades raras y otras aún más raras, como las enfermedades sin diagnóstico, que se unen hoy para, de manera cooperativa, avanzar en el conocimiento científico. Estos avances en el conoci miento permiten aplicar los avances obtenidos en un grupo de condiciones clínicas a otras con características fenotípicas similares o viceversa. El trabajo conjunto de equipos multidisciplinarios y la comunicación entre clínicos e investigadores proporcionarán oportunidades para proveer mejores oportunidades de tratamiento para pacientes y familias a lo largo de múltiples diagnósticos comunes o raros.


Abstract Rare diseases and undiagnosed diseases have re cently positioned themselves as clinical entities that provide important opportunities to advance our under standing of gene functions and the impact of them in the individual development. In this review, we present how efforts made over years to understand common diseases, rare diseases and even undiagnosed diseases come together today to cooperatively advances scientific knowledge. These advance in science and new acquired knowledge, make possible to apply the advances ob tained in a group of clinical conditions to others with similar phenotypic characteristics or vice versa. The cooperative work of multidisciplinary teams and the communication between clinicians and researchers have and will provide opportunities for better treatments for patients and families across multiple common and rare diseases.

11.
Medicina (B.Aires) ; Medicina (B.Aires);83(supl.2): 32-36, abr. 2023.
Article in English | LILACS-Express | LILACS | ID: biblio-1430826

ABSTRACT

Abstract Early identification and diagnosis of autism spectrum disorder (ASD) is necessary to promote access to early treatment, a critical factor in optimizing children's lifetime outcomes. And yet, diagno sis is often late, delaying interventions to a time in which symptoms have aggravated and communication skills already show impairing differences. This review illustrates progress in developmental social neuroscience that shows promise in generating novel tools for objective and cost-effective early diagnosis of ASD. We focus on research of social visual engagement, which is the way infants and toddlers look at and learn from their social environment. Moment-by-moment quantification of social visual engagement is yielding measures that are begin ning to approximate best-practice procedures used by experienced clinicians in the assessment of young children. This progress and potential solutions have public health import ance because experienced clinicians are limited in number, and specialized clinical assessment services tend to be lengthy, costly, and plagued by extended wait time, all of which contributing to limited access, particularly in the case of low-resource families. The research reviewed here illustrates a wider effort to advance biomarker-based measurements intended to develop better and more efficient tools and procedures for screening, diagnosing and monitoring treatment response in children with ASD. The advent of such tools could increase access to early diagnostic services and promote efficiencies in early treatment delivery, with the ultimate goal of ensuring that children with ASD are afforded the services they need to thrive.


Resumen La identificación y el diagnóstico temprano del trastorno del espectro autista (TEA) son necesarios para promover el acceso al tratamiento temprano, un factor crítico para optimizar los resultados de por vida de los niños. Y, sin embargo, el diagnóstico suele llegar tarde, lo que retrasa las intervenciones hasta un momento en el que los síntomas se han agravado y las habilidades de comunicación ya muestran diferencias perjudiciales. Esta revisión ilustra el progreso en la neurociencia social del desarrollo que se muestra prometedora en la generación de herramientas novedosas para el diagnóstico temprano objetivo y rentable de los TEA. Hacemos énfasis en la investigación del compromiso visual social, que es la forma en que los bebés y los niños pequeños miran y aprenden de su entorno social. La cuantificación momento a momento del compromiso visual social está gene rando medidas que comienzan a aproximarse a los procedimientos de mejores prácticas utilizados por médicos experimentados en la evaluación de niños pequeños. Este progreso y las posibles soluciones tienen importancia para la salud pública porque los médicos con experiencia son limitados en número y los servicios de evaluación clínica especializados tienden a ser largos, costosos y están plagados de tiempo de espera prolongado, todo lo cual contribuye a un acceso limitado, particularmente en el caso de familias con bajos recursos. La investigación revisada aquí ilustra un esfuerzo más amplio para avanzar en las mediciones basadas en biomarcadores desti nadas a desarrollar herramientas y procedimientos mejores y más eficientes para la detección, el diagnóstico y el seguimiento de la respuesta al tratamiento en niños con TEA. El advenimiento de tales herramientas podría aumentar el acceso a los servicios de diagnóstico temprano y promover la eficiencia en la entrega del trata miento temprano, con el objetivo final de garantizar que los niños con TEA reciban los servicios que necesitan para prosperar.

12.
Acta méd. peru ; 40(2)abr. 2023.
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1519929

ABSTRACT

Para determinar los efectos de la corioamnionitis histológica en el neurodesarrollo de los prematuros menores de 34 semanas evaluados a los 2 años de edad corregida se realizó un estudio secundario de casos y controles. Fueron analizados los datos clínicos, hallazgos histológicos de la placenta e índices del desarrollo medidos por la Escala Bayley III de 38 niños expuestos y 53 niños no expuestos. Las infecciones genitourinarias de la madre y la sepsis precoz fueron más frecuentes en el grupo expuesto (p<0,005). Las dimensiones del desarrollo cognitivo, motor y lenguaje fueron normales en ambos grupos. Los expuestos al subtipo subcorionitis obtuvieron menor desempeño en las tres dimensiones. La corioamnionitis histológica no mostró influencia sobre el neurodesarrollo en prematuros menores de 34 semanas a los 2 años de edad. Se recomienda estudios longitudinales y multicéntricos para definir los efectos a largo plazo.


SUMMARY The objective of this study was to determine the effects of histologically diagnosed chorioamnionitis on neurodevelopment of premature babies born with less than 34-week gestational age who were assessed at two-year corrected age. A secondary case-control study was carried out. Clinical data, placental histological findings, and development indexes assessed using the Bayley III scale were analyzed in 38 exposed children and 53 non-exposed children. Genitourinary infections in mothers and early sepsis were more frequent in the exposed group (p<0.005). Cognitive development, motor development and language were normal in both groups. Those children exposed to the chorionitis subtype had lower scores in the aforementioned variables. Histologically diagnosed chorioamnionitis did not show any influence on neurodevelopment in premature babies born with less than 34-week gestational age when they were assessed at two years. Longitudinal and multicenter studies are advised in order to define the long-term effects.

13.
Article | IMSEAR | ID: sea-228349

ABSTRACT

Background: With the advancement in technology and advances in perinatal care, survival rates of high risk newborns have improve. Despite the reduction in neonatal mortality, chronic morbidities and adverse outcomes have not declined. These include cerebral palsy, cognitive delay, visual and auditory deficits signifying the need for regular monitoring of growth and development.Methods: Retrospective and prospective cohort study in a tertiary care centre in South India. Study duration of one year. Retrospective analysis of data of 190 high risk newborns admitted in NICU for more than 48 hours during the period 2012-2014. Neurodevelopmental outcome of these high-risk newborns at the age of 8-10 years. These were contacted and followed up for clinical assessment including motor and neurological function, visiomotor integrative skills, academic achievement, language, executive function, behavioral issues and child behavioral checklist applied. Findings described in simple descriptive manner.Results: In this study of 190 babies,139 babies were followed up for clinical assessment at the age of 8-10 years. From the follow up, 7.2% were diagnosed to have seizure disorder during childhood. 18.7% had hyperactive airway disease during childhood. 9.8% had academic problems, 5.8% had motor abnormalities, 2.9% had vision abnormalities requiring glasses from early childhood, 4.3% had gait abnormalities, 4.9% had speech related difficulties,17.3% had behavioral issues including excessive anxiety, withdrawal, aggressiveness. 1.2% had sleep problems, 21.6% babies had features of attention deficit hyperactivity disorder, 2.9% had features related to autism.Conclusions: Neonatal period is a critical period for proper neurodevelopment, having impact on child development. Babies with difficulties during transition period had higher immediate as well as long term morbidities. Long term morbidities included hyperactive airway disease/asthma, seizure disorder, academic problems, motor and gait abnormalities, behavioural abnormalities in childhood.

14.
Article in Spanish | LILACS | ID: biblio-1433739

ABSTRACT

El diagnóstico de trastorno del espectro autista (TEA) en mujeres presenta importantes complejidades, desafíos y particularidades. Históricamente se ha planteado que este trastorno es más frecuente en hombres, existiendo, además, un sesgo hacia el género masculino en el screening y criterios diagnósticos. Objetivo: Presentar un caso clínico a fin de revisar las dificultades y particularidades asociadas al proceso diagnóstico de TEA en mujeres. Discusión: Las investigaciones a la fecha han planteado que muchas niñas no encajan en el perfil tradicional de TEA. Se han descrito características específicas del cuadro clínico en el sexo femenino, varias de las cuales se evidencian en el caso clínico presentado. Por otro lado, existen altas tasas de comorbilidades, tanto con patologías médicas como psiquiátricas, las cuales son siempre relevantes de evaluar. Conclusiones: Como en muchos otros aspectos, las mujeres también han sido invisibilizadas en lo que respecta al TEA. Es relevante que se continúe estudiando el tema para lograr un diagnóstico e intervención precoces en esta población.


The diagnosis of autism spectrum disorder (ASD) in women presents with significant complexities and challenges. It has been mentioned that the disorder is more prevalent in males, and there is also a bias towards the male gender in screening and diagnostic criteria. Objectives: To present a clinical case in order to review difficulties and peculiarities associated with the diagnostic process of ASD in women. Discussion: It has been suggested that many girls do not fit the traditional profile of ASD. Specific characteristics of the female gender phenotype have been described, several of which are illustrated in the clinical case presented. On the other hand, there are high rates of comorbidities, both with medical and psychiatric conditions, which are always relevant to assess and recognize. Conclusions: As in various other aspects, women have also been unrecognized and misdiagnosed when it comes to ASD. It is relevant that we keep understanding this issue, in order to achieve an early diagnosis and provide proper interventions to this population.


Subject(s)
Humans , Female , Adolescent , Autism Spectrum Disorder/diagnosis , Attention Deficit Disorder with Hyperactivity/diagnosis , Depression/diagnosis
15.
Article | IMSEAR | ID: sea-228326

ABSTRACT

Background: Severe acute malnutrition is known to be a major risk factor for impaired motor, cognitive, and socio-emotional development. Not much work has been done to study the neuro development of these patients. The aim of this study was to assess the neurodevelopment and outcome of children between 1 and 30 months with diagnosis of SAMMethods: The study was an observational prospective study conducted from November 2018 to April 2020. A total of 61 patients were enrolled in our study. Patients admitted in NRC with diagnosis of SAM were assessed for neurodevelopment after stabilization. Developmental assessment scale of Indian infants was used to calculate the motor developmental quotient and mental developmental quotient. Patients were followed till 6 months and after 6 months, they were again assessed by DASII to see the improvement in neurodevelopment status. Developmental quotient of less 70 was taken as delayed.Results: Mean DMeQ after stabilization and at 6 months after discharge was 53.672 and 72.591 respectively. Mean DMoQ after stabilization and at 6 months after discharge was 50.50 and 68.23 respectively. Mean DQ after stabilization and at 6 months after discharge was 52.186 and 70.4105 respectively.Conclusions: Severe acute malnutrition results in neurodevelopmental impairment in children but early and effective intervention results in significant improvement in neurodevelopment status.

16.
Article in Chinese | WPRIM | ID: wpr-973651

ABSTRACT

Background Lead and manganese are heavy metal pollutants widely existing in the environment, which can accumulate in the human body through the food chain, exert neurotoxicity, and cause neurodegenerative disorders. Especially in early childhood, the developing blood-brain barrier and nervous system are highly susceptible to environmental chemical pollutants. Most of the previous studies focused on the toxic effects of single heavy metal such as lead or manganese, while the studies on combined toxic effect are still scarce, and involved mechanisms are still unclear. c-Jun N-terminal kinase (JNK) is involved in neuronal development and regeneration, and some studies have found that JNK is involved in lead or manganese induced neurotoxicity. Its role in the toxicity of combined lead and manganese is unknown. Objective To understand the neurodevelopmental toxicity mechanism and to observe changes of JNK expression in zebrafish induced by combined lead and manganese exposure at environmentlly low concentrations. Methods Zebrafish embryos within 2 h post fertilization (hpf) were divided into four groups: control group, lead exposure group (0.1 mg·L−1 lead acetate), manganese exposure group (0.3 mg·L−1 manganous chloride), and lead-manganese combined exposure group (0.1 mg·L−1 lead acetate +0.3 mg·L−1 manganous chloride) and exposed to lead or/and manganese at designed levels for 7 d. Spontaneous movements and motor locomotion were observed, and mortality rate were calculated. The changes of JNK mRNA expression in zebrafish were evaluated. Results The experimental results showed that no significant effect of lead or/and manganese on spontaneous movements and mortality rate was found in zebrafish compared with the control group (P>0.05). The results of locomotion analysis showed that compared with the control group, the activity counts and activity distance of zebrafish in the manganese exposure group were slightly increased (P<0.01); the activity counts and activity distance of zebrafish in the lead exposure group were reduced by 50% and those in the lead-manganese exposure group were reduced by 80% (P<0.01). Compared with the lead exposure group, the activity counts and activity distance of zebrafish in the lead-manganese combined exposure group decreased significantly by 60% (P<0.05). The real-time quantitative PCR results showed that the JNK mRNA expression level was significantly increased in the lead-manganese combined exposure group compared with the control group(P<0.01). Conclusion Lead exposure combined with manganese exposure at environmentlly low concentration can induce neurodevelopmental toxicity to zebrafish. JNK may be involved in neurodevelopmental toxicity induced by the combined exposure to lead and manganese.

17.
Article in Chinese | WPRIM | ID: wpr-970358

ABSTRACT

There are a variety of post-transcriptional modifications in mRNA, which regulate the stability, splicing, translation, transport and other processes of mRNA, followed by affecting cell development, body immunity, learning and cognition and other important physiological functions. m6A modification is one of the most abundant post-transcriptional modifications widely existing in mRNA, regulating the metabolic activities of RNA and affecting gene expression. m6A modified homeostasis is critical for the development and maintenance of the nervous system. In recent years, m6A modification has been found in neurodegenerative diseases, mental diseases and brain tumors. This review summarizes the role of m6A methylation modification in the development, function and related diseases of the central nervous system in recent years, providing potential clinical therapeutic targets for neurological diseases.


Subject(s)
Methylation , Central Nervous System/metabolism , RNA, Messenger/metabolism , RNA
18.
Zhongguo dangdai erke zazhi ; Zhongguo dangdai erke zazhi;(12): 368-373, 2023.
Article in Chinese | WPRIM | ID: wpr-981965

ABSTRACT

OBJECTIVES@#To study the effects of infantile positional plagiocephaly on the growth and neural development.@*METHODS@#A retrospective study was conducted on the medical data of 467 children who underwent craniographic examination and were followed up to 3 years of age in Peking University Third Hospital from June 2018 to May 2022. They were divided into four groups: mild positional plagiocephaly (n=108), moderate positional plagiocephaly (n=49), severe positional plagiocephaly (n=12), and normal cranial shape (n=298). The general information of the four groups and the weight, length, head circumference, visual acuity screening results, hearing test results, and the scores of Pediatric Neuropsychological Developmental Scales/Gesell Developmental Schedules of the four groups from 6 to 36 months old were compared.@*RESULTS@#The rates of adverse perinatal factors, congenital muscular torticollis, and supine fixed sleeping posture in the mild, moderate, and severe positional plagiocephaly groups were higher than the normal cranial group (P<0.05). There was no significant difference in weight, length, and head circumference among the four groups at 6, 12, 24 and 36 months of age (P>0.05). The incidence rate of abnormal vision in the severe positional plagiocephaly group was higher than that in the mild positional plagiocephaly, moderate positional plagiocephaly and normal cranial shape groups at 24 and 36 months of age (P<0.05). The scores of the Pediatric Neuropsychological Developmental Scales at 12 and 24 months of age and the scores of the Gesell Developmental Schedules at 36 months of age in the severe positional plagiocephaly group were lower than those in the mild positional plagiocephaly, moderate positional plagiocephaly and normal cranial shape groups, but the difference was not statistically significant (P>0.05).@*CONCLUSIONS@#Adverse perinatal factors, congenital muscular torticollis, and supine fixed sleeping position may be associated with infantile positional plagiocephaly. Mild or moderate positional plagiocephaly has no significant impact on the growth and neural development of children. Severe positional plagiocephaly have adverse effects on the visual acuity. However, it is not considered that severe positional plagiocephaly can affect the neurological development.


Subject(s)
Child , Humans , Infant , Child, Preschool , Plagiocephaly, Nonsynostotic/therapy , Follow-Up Studies , Prognosis , Retrospective Studies
19.
Zhongguo dangdai erke zazhi ; Zhongguo dangdai erke zazhi;(12): 560-565, 2023.
Article in Chinese | WPRIM | ID: wpr-981994

ABSTRACT

Preterm infants, especially those born extremely or very prematurely, are at high risk for growth retardation and neurodevelopmental disorders. Regular follow-up after discharge, early intervention, and timely catch-up growth are important guarantees for improving the quality of life of preterm infants and improving the quality of the population. This article provides an overview of the research hotspots in follow-up management of preterm infants after discharge over the past two years, including follow-up modes, nutritional metabolism and body composition follow-up, growth pattern follow-up, neurodevelopmental follow-up, early intervention, etc., in order to provide clinical guidance and research ideas for domestic peers.


Subject(s)
Humans , Infant, Newborn , Aftercare , Follow-Up Studies , Infant, Premature , Patient Discharge , Quality of Life
20.
Chin. j. integr. med ; Chin. j. integr. med;(12): 405-412, 2023.
Article in English | WPRIM | ID: wpr-982291

ABSTRACT

OBJECTIVE@#To investigate the role of hippocampal neurodevelopment in the antidepressant effect of baicalin.@*METHODS@#Forty male Institute of Cancer Research mice were divided into control, corticosterone (CORT, 40 mg/kg), CORT+baicalin-L (25 mg/kg), CORT+baicalin-H (50 mg/kg), and CORT+fluoxetine (10 mg/kg) groups according to a random number table. An animal model of depression was established by chronic CORT exposure. Behavioral tests were used to assess the reliability of depression model and the antidepressant effect of baicalin. In addition, Nissl staining and immunofluorescence were used to evaluate the effect of baicalin on hippocampal neurodevelopment in mice. The protein and mRNA expression levels of neurodevelopment-related factors were detected by Western blot analysis and real-time polymerase chain reaction, respectively.@*RESULTS@#Baicalin significantly ameliorated the depressive-like behavior of mice resulting from CORT exposure and promoted the development of dentate gyrus in hippocampus, thereby reversing the depressive-like pathological changes in hippocampal neurons caused by CORT neurotoxicity. Moreover, baicalin significantly decreased the protein and mRNA expression levels of glycogen synthase kinase 3β (GSK3β), and upregulated the expression levels of cell cycle protein D1, p-mammalian target of rapamycin (mTOR), doublecortin, and brain-derived neurotrophic factor (all P<0.01). There were no significant differences between baicalin and fluoxetine groups (P>0.05).@*CONCLUSION@#Baicalin can promote the development of hippocampal neurons via mTOR/GSK3β signaling pathway, thus protect mice against CORT-induced neurotoxicity and play an antidepressant role.


Subject(s)
Male , Animals , Mice , Corticosterone , Fluoxetine/metabolism , Depression/chemically induced , Glycogen Synthase Kinase 3 beta/metabolism , Reproducibility of Results , Antidepressive Agents/pharmacology , Hippocampus , TOR Serine-Threonine Kinases/metabolism , RNA, Messenger/genetics , Behavior, Animal , Disease Models, Animal , Mammals/metabolism
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