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1.
Pediatrics ; 155(2)2025 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-39814049

RESUMO

BACKGROUND: Zika virus (ZIKV) infection during pregnancy can lead to congenital Zika syndrome (CZS) and may result in neurodevelopmental alterations in exposed children, with and without CZS. This study aimed to evaluate ZIKV infection during pregnancy as a risk factor for early and long-term adverse outcomes. METHODS: This retrospective-prospective, matched cohort study was conducted in Mato Grosso do Sul, Brazil. Mother-infant pairs exposed and unexposed to ZIKV during pregnancy were enrolled in the study from 2018 to 2022. Clinical and epidemiological data from the gestational period and neonatal evaluations were obtained from the Brazilian health surveillance system. Children were assessed for early (congenital anomalies) and long-term adverse outcomes (neurodevelopmental delay). Incidence risk ratio (IRR) and crude odds ratio (OR) were used to assess associations. RESULTS: The risk of adverse outcomes in exposed children was nearly 3-fold higher (IRR, 2.7; 95% CI, 1.4-5.1) compared with the control group. The risk of motor (IRR, 3.4; 95% CI, 1.2-9.6) and cognitive delay (IRR, 4.7; 95% CI, 1.7-13.0) was significantly higher in exposed children. In 44% of pregnancies wherein maternal infection occurred in the first trimester, at least 1 adverse event was identified in the child, with 11.2-fold greater odds of adverse outcomes (OR, 11.2; 95% CI, 3.6-35.0) compared with children of mothers infected in the third trimester. CONCLUSIONS: Children exposed to ZIKV in utero, even without CZS, demonstrate a greater risk for neurodevelopmental delay in early childhood, with the timing of maternal infection being a significant predictive risk factor.


Assuntos
Complicações Infecciosas na Gravidez , Infecção por Zika virus , Humanos , Feminino , Gravidez , Infecção por Zika virus/epidemiologia , Infecção por Zika virus/complicações , Complicações Infecciosas na Gravidez/epidemiologia , Estudos Retrospectivos , Brasil/epidemiologia , Estudos Prospectivos , Recém-Nascido , Masculino , Efeitos Tardios da Exposição Pré-Natal/epidemiologia , Adulto , Lactente , Fatores de Risco , Pré-Escolar , Transtornos do Neurodesenvolvimento/epidemiologia , Transtornos do Neurodesenvolvimento/etiologia , Deficiências do Desenvolvimento/epidemiologia , Deficiências do Desenvolvimento/etiologia
2.
Clinics (Sao Paulo) ; 80: 100533, 2025.
Artigo em Inglês | MEDLINE | ID: mdl-39752997

RESUMO

INTRODUCTION: This study aimed to investigate the associations among seizures, clinical characteristics, and brain injury on Magnetic Resonance Imaging (MRI) in infants with Hypoxic Ischemic Encephalopathy (HIE), and to determine whether these findings can predict unfavorable neurodevelopmental outcomes. METHOD: Clinical and electrographic seizures were assessed by amplitude-integrated electroencephalogram, and the extent of brain injury was evaluated by using MRI. At 12‒24 months of age, developmental impairment or death was assessed. Between 2012 and 2020, 143 newborns were admitted for HIE, and 8 infants were excluded from the study. RESULTS: Eighty-five infants were diagnosed with greater than moderate HIE and 65 infants underwent therapeutic hypothermia. In addition, 38 infants experienced clinical seizures (clinical seizure group, CSG), 49 infants had electrographic seizures (Electrographic Seizure Group, ESG), and 48 infants had no seizures (no seizure group, NSG). The proportion of infants with neurodevelopmental impairment or death was significantly higher in the CSG than in the NSG (57.7 % and 26.1 %, p = 0.026). A risk factor analysis indicated that cord blood pH (adjusted Odds Ratio [aOR = 0.01]; 95 % Confidence Interval [95 % CI 0.001‒0.38]; p = 0.015) and MRI findings (aOR = 4.37; 95 % CI 1.25‒15.30; p = 0.012) were independently associated with abnormal neurodevelopment, after adjustment. DISCUSSION: Clinical seizures in infants with HIE were independently associated with abnormal neurodevelopment. However, cord blood pH and abnormal brain MRI findings were consistently linked to long-term neurodevelopmental outcomes.


Assuntos
Eletroencefalografia , Hipóxia-Isquemia Encefálica , Imageamento por Ressonância Magnética , Convulsões , Humanos , Hipóxia-Isquemia Encefálica/diagnóstico por imagem , Hipóxia-Isquemia Encefálica/complicações , Masculino , Feminino , Recém-Nascido , Convulsões/etiologia , Convulsões/diagnóstico por imagem , Lactente , Fatores de Risco , Transtornos do Neurodesenvolvimento/etiologia , Transtornos do Neurodesenvolvimento/diagnóstico por imagem , Encéfalo/diagnóstico por imagem , Estudos Retrospectivos , Hipotermia Induzida
3.
J Pediatr ; 276: 114357, 2025 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-39423907

RESUMO

OBJECTIVE: To assess the association between primary and staged repair of neonatal symptomatic tetralogy of Fallot (sTOF) and neurodevelopmental outcomes in preschool through school-age children. STUDY DESIGN: Multicenter cohort (n = 9 sites) study of patients with sTOF who underwent neonatal intervention between 2005 and 2017. The neurodevelopmental outcomes measures included caregivers' ratings of executive function with the Behavior Rating Inventory of Executive Function, and psychosocial functioning with the Behavior Assessment System for Children - third Edition (BASC-3). Results were compared with normative data and by treatment strategy (primary repair vs staged repair). A parent survey assessed history of disabilities and access to services related to neurodevelopment. RESULTS: Although the majority of patients (median age 8.3 years, IQR 5.7-11.2) had median Behavior Rating Inventory of Executive Function and BASC-3 scores within the normal range, a proportion had clinically elevated (abnormal) scores, especially in the school-age patient subgroup (Behavior Rating Inventory of Executive Function 24%-30% and BASC 20%-37%). There were no statistically significant differences based on treatment strategy for either the Behavior Rating Inventory of Executive Function or BASC-3. However, lower birth weight, genetic syndrome, and medical complexity were significantly associated with worse executive function, and lower maternal education was associated in school-age children with lower executive and psychosocial functioning. Ongoing disabilities were relatively common (learning disability 35%, speech delay 33%, developmental delay 31%), although up to 50% of children were not receiving educational or developmental services. CONCLUSIONS: Elevated executive and psychosocial concerns are present in the patient population with sTOF. Although initial treatment strategy appears unrelated to neurodevelopmental outcomes, lower birth weight, genetic syndrome, and medical complexity and lower maternal education are risk factors. Early recognition of neurodevelopmental concerns can facilitate access to appropriate neurodevelopmental services in this high-risk group.


Assuntos
Pais , Tetralogia de Fallot , Humanos , Tetralogia de Fallot/cirurgia , Tetralogia de Fallot/psicologia , Feminino , Masculino , Recém-Nascido , Pais/psicologia , Pré-Escolar , Criança , Transtornos do Neurodesenvolvimento/etiologia , Transtornos do Neurodesenvolvimento/epidemiologia , Desenvolvimento Infantil , Função Executiva , Estudos de Coortes , Procedimentos Cirúrgicos Cardíacos/métodos , Deficiências do Desenvolvimento/etiologia
4.
Biomedica ; 44(4): 496-509, 2024 11 06.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-39531553

RESUMO

Introduction: Congenital toxoplasmosis is a highly prevalent parasitic disease worldwide, with a high burden of disease and neurodevelopmental involvement in pediatric patients. Objective: To describe the clinical sequelae and neurodevelopmental state of pediatric patients with congenital toxoplasmosis at the Hospital Militar Central during 2013 to 2020. Materials and methods: We conducted an observational, descriptive, cross-sectional study with an analytical component, including pediatric patients diagnosed with congenital toxoplasmosis. Patients consulted the Hospital Militar Central from January 2013 to December 2020. The Ages and Stages Questionnaires 3 neurodevelopmental scale was applied to children under six years old. Results: Forty-five patients with confirmed congenital toxoplasmosis were included, with a mean age of 5.9 years; 60% were male; 11.2 % were symptomatic at birth, and 33% presented chorioretinitis. During the follow-up, 73% presented ophthalmologic sequelae, 64% cerebral calcifications, 4.4% hydrocephalus, 11.2% cerebral palsy, and 13.4% focal epilepsy. In children under six years old, 58% presented neurodevelopmental compromise, and in those over six years old, 62% had cognitive deficits. In this cohort, 68% of the patients received posnatal treatment, with a statistically significant association between not receiving treatment and ophthalmological sequelae (OR = 5.2; p < 0.001). Conclusions: Congenital toxoplasmosis is associated with important long-term sequelae similar to those described in several Latin American series. These findings highlight the importance of early diagnosis, evaluation, treatment, and timely interdisciplinary follow-up of patients in our country to improve their prognosis.


Introducción: La toxoplasmosis congénita es una enfermedad parasitaria de importante prevalencia a nivel mundial, con gran morbilidad y afectación del neurodesarrollo en pacientes pediátricos. Objetivo: Describir las secuelas y valorar el neurodesarrollo de pacientes pediátricos con toxoplasmosis congénita en el Hospital Militar Central del 2013 al 2020. Materiales y métodos: Se trata de un estudio observacional, descriptivo y de corte transversal, con componente analítico, que incluyó los pacientes pediátricos con diagnóstico de toxoplasmosis congénita que consultaron al Hospital Militar Central durante el periodo de enero de 2013 a diciembre de 2020. En los niños menores de seis años, se utilizó la escala de neurodesarrollo Ages and Stages Questionnaires 3. Resultados: Se incluyeron 45 pacientes con toxoplasmosis congénita confirmada, con una media de edad de 5,9 años; 60 % eran de sexo masculino. El 11,2 % estaban sintomáticos al nacer y el 33 % presentó coriorretinitis. Durante el seguimiento, el 73 % presentó secuelas oftalmológicas; el 64 %, tenía calcificaciones en la tomografía computarizada; el 4,4 %, hidrocefalia; el 11,2 %, parálisis cerebral, y el 13,4 %, epilepsia focal. El 58 % de los menores de seis años presentó compromiso del neurodesarrollo y el 62 % de los mayores de seis años tenía déficit cognitivo. En esta cohorte, el 68 % de los pacientes recibió tratamiento posnatal. Se obtuvo una asociación estadísticamente significativa entre no recibir tratamiento y las secuelas oftalmológicas (OR = 5,2; p < 0,001). Conclusiones: La toxoplasmosis congénita se asoció con secuelas a largo plazo, similares a las descritas en otras series de casos latinoamericanos. Es de suma importancia hacer un diagnóstico temprano, con evaluación, tratamiento y seguimiento interdisciplinario oportunos en los pacientes colombianos para mejorar su pronóstico.


Assuntos
Toxoplasmose Congênita , Humanos , Toxoplasmose Congênita/complicações , Toxoplasmose Congênita/epidemiologia , Estudos Transversais , Masculino , Feminino , Pré-Escolar , Criança , Lactente , Colômbia/epidemiologia , Transtornos do Neurodesenvolvimento/epidemiologia , Transtornos do Neurodesenvolvimento/etiologia , Transtornos do Neurodesenvolvimento/parasitologia , Recém-Nascido
5.
Int J Mol Sci ; 25(21)2024 Oct 30.
Artigo em Inglês | MEDLINE | ID: mdl-39519203

RESUMO

Pregnancy is distinguished by a multitude of intricate interactions between the mother and the new individual, commencing at implantation and persisting until the maturation and integration of the fetal apparatus and systems. The physiological increase in fat mass during pregnancy and the association of maternal obesity with adverse neonatal outcomes have directed attention to the study of maternal adipokines as participants in fetal development. Interestingly, maternal concentrations of certain adipokines such as adiponectin, leptin, tumor necrosis factor-alpha, and interleukin-6 have been found to be associated with offspring anthropometry and adiposity at birth and at three months of age, even with neurodevelopmental alterations later in life. This is partly explained by the functions of these adipokines in the regulation of maternal metabolism and placental nutrient transport. This review compiles, organizes, and analyzes the most relevant studies on the association between maternal adipokines with anthropometry, adiposity, and neurodevelopmental outcomes of the offspring. Furthermore, it proposes the underlying mechanisms involved in this association.


Assuntos
Adipocinas , Adiposidade , Humanos , Feminino , Gravidez , Adipocinas/metabolismo , Antropometria , Transtornos do Neurodesenvolvimento/etiologia , Transtornos do Neurodesenvolvimento/metabolismo , Efeitos Tardios da Exposição Pré-Natal/metabolismo , Desenvolvimento Fetal
6.
Rev Gaucha Enferm ; 45: e20240020, 2024.
Artigo em Inglês, Português | MEDLINE | ID: mdl-39607231

RESUMO

OBJECTIVE: To identify, in the literature, the implications of gestational exposure to SARS-CoV-2 on neurodevelopment in the first postnatal year, focusing on changes in the motor, personal-social, socio-emotional, and communication and language domains. METHOD: Systematic review with narrative synthesis, considering neurodevelopmental outcomes, categorized according to gross and fine motor skills, personal-social interaction, socio-emotional aspects, and communication and language. Searches were conducted in PubMed, LILACS/BIREME, and EMBASE databases between January 2020 and June 2023. Two independent researchers performed selection by reading the title and abstract and applying the inclusion and exclusion criteria. Cohort studies that evaluated children up to one year old, exposed to SARS-CoV-2 in utero, were included. The Newcastle-Ottawa scale was used to assess methodological quality. RESULTS: Seventeen articles were included, with methodological quality ranging from intermediate to good. The most frequently used instrument to characterize neurodevelopment was the Ages & Stages Questionnaires. Infants aged 0 to 3 months had lower scores for fine and gross motor skills. Infants aged 3 to 12 months had more fine motor, social and communication and language impairments. CONCLUSION: Most infants exposed to SARS-CoV-2 showed development as expected, however delays were identified in the motor, personal-social, socio-emotional and communication and language domains according to the age group.


Assuntos
COVID-19 , Desenvolvimento Infantil , Humanos , COVID-19/psicologia , Feminino , Lactente , Gravidez , Efeitos Tardios da Exposição Pré-Natal , Recém-Nascido , SARS-CoV-2 , Transtornos do Neurodesenvolvimento/etiologia , Complicações Infecciosas na Gravidez , Destreza Motora
7.
Environ Pollut ; 363(Pt 1): 125086, 2024 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-39374765

RESUMO

The potential neurotoxicity of environmental contaminants, such as pesticides, is implicated in the etiology of neurodevelopmental disorders, particularly given the heightened vulnerability of the developing brain. Among these contaminants, glyphosate, a widely used herbicide, has been linked to alterations in neurodevelopment, though its precise neurotoxic mechanisms are not fully elucidated. In this context, our systematic review evaluates the impact of maternal exposure to glyphosate alone (GLY) or glyphosate-based-herbicide (GBH) on neurodevelopmental and behavioral outcomes in rodent offspring. This assessment encompasses a comprehensive examination of behavioral, biochemical, morphological, and genetic alterations resulting from perinatal glyphosate exposure. The Systematic review protocol was registered in the platform Open Science Framework (OSF) following the guidelines of the Systematic Review Center for Laboratory Animal Experimentation (SYRCLE). Our analysis demonstrate that glyphosate disrupts redox signaling, metabolic pathways, and neurotransmitter systems, thereby affecting brain architecture and function across genders and developmental stages in rodents. The results of this review elucidate the extensive neurochemical and behavioral disruptions attributed to glyphosate, highlighting the critical need for advanced neurodevelopmental risk assessment methodologies. Such refined evaluations are vital to inform targeted prevention and intervention strategies in the context of environmental neurotoxicants.


Assuntos
Glicina , Glifosato , Herbicidas , Exposição Materna , Efeitos Tardios da Exposição Pré-Natal , Roedores , Glicina/análogos & derivados , Glicina/toxicidade , Animais , Feminino , Herbicidas/toxicidade , Gravidez , Transtornos do Neurodesenvolvimento/induzido quimicamente , Poluentes Ambientais/toxicidade , Ratos , Encéfalo/efeitos dos fármacos , Encéfalo/metabolismo , Encéfalo/crescimento & desenvolvimento , Camundongos
8.
Chemosphere ; 366: 143468, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-39369740

RESUMO

Polycyclic aromatic hydrocarbons (PAHs) are widespread environmental contaminants produced through the combustion of organic matter, with sources ranging from traffic pollution to diet. Although PAH exposure has been associated with adverse health effects, few studies have examined its impact on neurodevelopmental delay (NDD). Thus, our study aims to investigate the effect of prenatal PAH exposure on the odds of NDD. We measured 7 hydroxylated PAH metabolites in spot urine samples collected up to three times during pregnancy in the PROTECT birth cohort. NDD was identified using score cutoffs from the Ages and Stages Questionnaire, 3rd edition offered in Spanish, across five domains at 12, 24, 36, and 48 months. We utilized logistic regression and mixed effects logistic regression models to assess associations between prenatal PAH concentrations and NDD. Our results showed mostly lower odds of NDD with higher PAH exposure (p < 0.05). However, male children showed higher odds of NDD in relation to PAH exposure, particularly in the Fine Motor domain. For example, 1-hydroxypyrene was associated with 1.11 (1.01, 1.23) times odds of delay in fine motor function in male children versus 0.91 (0.82, 1.00) times odds in female children. Our preliminary sex-specific results suggest that PAH exposure may impact neurodevelopment in male children and prompt further investigation into the potential sex-specific mechanisms of PAHs on motor function.


Assuntos
Poluentes Ambientais , Hidrocarbonetos Policíclicos Aromáticos , Efeitos Tardios da Exposição Pré-Natal , Humanos , Hidrocarbonetos Policíclicos Aromáticos/toxicidade , Hidrocarbonetos Policíclicos Aromáticos/urina , Feminino , Gravidez , Masculino , Poluentes Ambientais/urina , Porto Rico , Pré-Escolar , Exposição Materna/estatística & dados numéricos , Lactente , Transtornos do Neurodesenvolvimento/epidemiologia , Transtornos do Neurodesenvolvimento/induzido quimicamente , Desenvolvimento Infantil/efeitos dos fármacos , Exposição Ambiental/estatística & dados numéricos , Adulto
9.
Medicina (B Aires) ; 84 Suppl 3: 26-31, 2024 Sep.
Artigo em Espanhol | MEDLINE | ID: mdl-39331772

RESUMO

One in ten babies are born preterm, as defined as being less than 37 weeks of gestational age. Premature births are associated with a high risk of poor neurodevelopmental outcomes, including hearing, visual, motor, and cognitive impairments. Currently, there is no specific standardization for neurological follow-up infants born premature. Most formal neonatal intensive care units, follow-up programs monitor children until early childhood. However, some deficits, such as mild cognitive impairment, may only become apparent in school years. This review outlines a neurological follow-up timeline, as well as the different standardized measures that can be used to monitor development to ensure that children born preterm receive timely and appropriate therapies and services.


Uno de cada diez bebés nacidos es prematuro, el cual se define como el nacido antes de las 37 semanas de edad gestacional. La prematuridad está asociada con un alto riesgo de trastornos del neurodesarrollo con limitaciones en la audición, visión, área cognitiva y motora. Actualmente, no existen programas estandarizados específicos para el seguimiento neurológico de los prematuros. La mayoría son desarrollados por las unidades de cuidados intensivos neonatales y dan seguimiento hasta la edad pre-escolar. Sin embargo, algunas deficiencias, como el deterioro cognitivo leve, son reconocidos tardíamente. Esta revisión describe un cronograma para el seguimiento neurológico y las herramientas estandarizadas que pueden utilizarse para vigilar el desarrollo y asegurar que los niños nacidos prematuros reciban terapias y otros servicios adecuados y oportunos.


Assuntos
Recém-Nascido Prematuro , Humanos , Recém-Nascido , Seguimentos , Unidades de Terapia Intensiva Neonatal , Transtornos do Neurodesenvolvimento , Exame Neurológico/métodos , Exame Neurológico/normas , Guias de Prática Clínica como Assunto
10.
Medicina (B Aires) ; 84 Suppl 3: 50-55, 2024 Sep.
Artigo em Espanhol | MEDLINE | ID: mdl-39331776

RESUMO

It is estimated that about 1 in 100 live births has a congenital heart disease (CHD). Cognitive deficit, academic difficulties, and behavioral abnormalities, in combination, represent the most common morbidity affecting quality of life in survivors with CHD. Developmental dysfunction results from a complex interaction between patient-specific factors such as genetic susceptibility, cardiac diagnosis, fetal development, and environmental factors such as preoperative events, supportive techniques during surgical repair, postoperative events, socioeconomic status. A comprehensive neurodevelopmental assessment in all children with CHD is critical to identify any need for intervention early and provide the support needed to optimize their long-term development.


Se estima que aproximadamente 1 de cada 100 nacidos vivos presenta una cardiopatía congénita (CC). El déficit cognitivo, las dificultades académicas y anomalías conductuales, en combinación, representan la morbilidad más común que afecta la calidad de vida en sobrevivientes con CC. La disfunción del desarrollo resulta de una interacción compleja entre factores específicos del paciente como susceptibilidad genética, tipo de cardiopatía, desarrollo fetal y factores ambientales tales como eventos preoperatorios, técnicas de apoyo durante la reparación quirúrgica, eventos posoperatorios, estatus socioeconómico. Una evaluación integral del neurodesarrollo en todos los niños con CC es fundamental para identificar tempranamente cualquier necesidad de intervención y proporcionar el apoyo necesario para optimizar su desarrollo a largo plazo.


Assuntos
Cardiopatias Congênitas , Humanos , Cardiopatias Congênitas/complicações , Criança , Transtornos do Neurodesenvolvimento/etiologia , Deficiências do Desenvolvimento/etiologia , Qualidade de Vida , Fatores de Risco
11.
Medicina (B Aires) ; 84 Suppl 3: 93-98, 2024 Sep.
Artigo em Espanhol | MEDLINE | ID: mdl-39331783

RESUMO

The prevalence of sleep disorders (SD) is notoriously increased in children with chronic neurological disease, with a negative bidirectional link that aggravates their symptomatology and has a negative impact on the quality of life of the child and their families. Identifying and recognizing this association is key for the child neurologist since the treatment of SD significantly improves daytime symptomatology in neurodevelopmental disorders, epilepsy, primary headaches, cerebral palsy and neuromuscular diseases.


La prevalencia de los trastornos del sueño (TS) se incrementa notoriamente en niños con enfermedad neurológica crónica, con un vínculo bidireccional negativo que agrava su sintomatología y repercute negativamente en la calidad de vida del niño y su familia. Identificar y reconocer dicha asociación es clave para el neuropediatra, ya que el tratamiento del TS mejora significativamente la sintomatología diurna de los trastornos del neurodesarrollo, epilepsia, cefaleas primarias, parálisis cerebral y enfermedades neuromusculares.


Assuntos
Transtornos do Sono-Vigília , Criança , Humanos , Doença Crônica , Doenças do Sistema Nervoso/complicações , Doenças do Sistema Nervoso/fisiopatologia , Transtornos do Neurodesenvolvimento/complicações , Transtornos do Neurodesenvolvimento/fisiopatologia , Doenças Neuromusculares/complicações , Doenças Neuromusculares/fisiopatologia , Qualidade de Vida , Transtornos do Sono-Vigília/epidemiologia , Transtornos do Sono-Vigília/etiologia , Transtornos do Sono-Vigília/fisiopatologia
12.
Arq Neuropsiquiatr ; 82(9): 1-8, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39341210

RESUMO

BACKGROUND: Hypoxic-ischemic encephalopathy (HIE) affects 1.5 newborns per 1 thousand term live births. Therapeutic hypothermia (TH) does not prevent all adverse outcomes. The experience with TH is still limited in Latin America. In Rio de Janeiro, Hospital Universitário Pedro Ernesto treats neonates with HIE since 2017 using the servo-controlled system. OBJECTIVE: To describe the frequency of epilepsy, altered neurological exam, and neurodevelopmental delay at 12 months of age in patients treated with TH in a reference hospital in Rio de Janeiro and to evaluate the possible risk associations with clinical data and data from complementary exams. METHODS: We evaluated medical records from the Neonatal Intensive Care Unit hospitalization and from first evaluation recorded at 12 months of age in the High-Risk Neonate Follow-up Outpatient Sevice. RESULTS: A total of 30 subjects were included in the study. We found epilepsy in 18.2% of the patients, altered neurological exam in 40.9%, and neurodevelopmental delay in 36.4%. We also found a significant relationship between altered magnetic resonance imaging scan and subsequent altered neurological exam. Our findings are in line with those of the international literature, which shows that adverse outcomes are still observed, even when TH is applied. Brazilian data shows our limited access to complementary exams. The rate of loss to follow-up was of 26.6%, probably due to the coronavirus disease 2019 (COVID-19) pandemic and to unfavorable socioeconomic conditions. More time for prospective follow-up and protocol adjustments should contribute to improve our data. CONCLUSION: High incidences of epilepsy, altered neurological exams, and neurodevelopmental delay were found, despite the use of TH. A more efficient use of resources is needed, as well as measures such as early intervention.


ANTECEDENTES: A encefalopatia hipóxico-isquêmica (EHI) afeta 1,5 a cada mil nascidos vivos a termo. A hipotermia terapêutica (HT) não previne todos os desfechos negativos. A experiência com HT ainda é limitada na América Latina. No Rio de Janeiro, o Hospital Universitário Pedro Ernesto trata neonatos com EHI desde 2017 usando o sistema servo-controlado. OBJETIVO: Relatar a frequência de epilepsia, de alteração em exame neurológico e de atraso no desenvolvimento neuropsicomotor aos 12 meses de idade nos pacientes submetidos a HT em um hospital de referência no estado do Rio de Janeiro e avaliar as associações de risco com dados clínicos e de exames complementares. MéTODOS: Foi feita análise de dados do prontuário médico da internação na UTI Neonatal e da primeira avaliação registrada a partir de 12 meses completos de idade no Ambulatório de Seguimento de Recém-Nascido de Alto Risco. RESULTADOS: Ao todo, 30 pacientes foram incluídos. As frequências de epilepsia, de alteração em exame neurológico e de atraso no desenvolvimento neuropsicomotor aos 12 meses de idade foram, respectivamente, de 18,2%, 40,9% e 36,4%. Observamos relação significativa entre alteração na ressonância magnética e posterior alteração no exame neurológico. Nossos achados corroboram a literatura internacional, em que desfechos desfavoráveis ocorrem mesmo aplicando-se HT. Dados brasileiros mostram a limitação da disponibilidade dos exames complementares. Houve perda de seguimento de 26,6%, provavelmente pela pandemia da doença do coronavírus 2019 (coronavirus disease 2019, COVID-19, em inglês) e condições socioeconômicas desfavoráveis. Mais tempo de seguimento e ajustes no protocolo devem contribuir para melhorar nossos dados. CONCLUSãO: Foram encontradas elevadas incidências de epilepsia, de exame neurológico alterado e de atraso no neurodesenvolvimento, apesar da HT. Faz-se necessário uso mais eficiente dos recursos disponíveis, bem como de medidas como intervenção precoce.


Assuntos
Epilepsia , Hipotermia Induzida , Hipóxia-Isquemia Encefálica , Transtornos do Neurodesenvolvimento , Humanos , Recém-Nascido , Hipóxia-Isquemia Encefálica/terapia , Masculino , Feminino , Brasil/epidemiologia , Transtornos do Neurodesenvolvimento/etiologia , Transtornos do Neurodesenvolvimento/epidemiologia , Epilepsia/terapia , Países em Desenvolvimento , Lactente , Resultado do Tratamento , Deficiências do Desenvolvimento/etiologia , Exame Neurológico , Imageamento por Ressonância Magnética , Fatores de Risco , Estudos Retrospectivos , Unidades de Terapia Intensiva Neonatal
13.
Bol Med Hosp Infant Mex ; 81(4): 217-224, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39236669

RESUMO

BACKGROUND: Some cancer survivors experience difficulties with concentration, attention, and memory; however, there are no studies on neurodevelopment in patients under 5 years of age who are undergoing cancer treatment. Our aim was to evaluate neurodevelopment in cancer patients under 5 years of age using the Early Development Instrument (EDI) test, considering factors such as nutritional status, type of cancer, and treatment effect. METHODS: A cross-sectional study was conducted from February 2018 to March 2019. Patients with cancer diagnoses outside the central nervous system in any phase of cancer treatment were included. RESULTS: A total of 45 patients were included. Regarding fine motor skills, 28% of patients with retinoblastoma and 23% of patients with leukemia or lymphoma had a risk of developmental delay compared to 0% of patients with solid tumors (p = 0.025). The final results showed that 19 (42.2%) patients had normal neurodevelopment (gray), 7 (15.5%) had a delay in neurodevelopment (light gray), and 19 (42.2%) had a risk of developmental delay (black). Regarding developmental delay, 52% of patients in the leukemia and lymphoma group, 71% in the retinoblastoma group, and 23% in the solid tumor group presented developmental delay (p = 0.06). CONCLUSIONS: The risk of delay and lag in neurodevelopment is common in cancer patients under 5 years of age undergoing treatment. However, more studies are required to evaluate the effect of treatment on this group of patients as it may be affected by various factors.


INTRODUCCIÓN: En algunos pacientes supervivientes de cáncer se presentan dificultades de concentración, atención y memoria, sin embargo no hay estudios en relación al neurodesarrollo en pacientes menores de 5 años que se encuentran en tratamiento oncológico. Por lo que el objetivo fue valorar el neurodesarrollo en pacientes con cáncer durante el tratamiento oncológico mediante la prueba EDI tomando en cuenta diversos factores como su estado nutricional, tipo de cancer, y el efecto del tratamiento. MÉTODOS: Se realizó un estudio transversal, de febrero de 2018 a marzo de 2019. Se incluyeron pacientes mayores de 1 año y menores de 5 años con diagnóstico de cáncer fuera del sistema nervioso central, en tratamiento oncológico. RESULTADOS: Se incluyeron 45 pacientes. En el área motor fina el 28% de los pacientes con retinoblastoma y 23% con leucemias y linfomas se encontraron en rojo (retraso) en comparación con 0% de los pacientes con tumores sólidos (p = 0.025). En el resultado global se encontró que 19 (42.2%) pacientes tuvieron neurodesarrollo normal (gris), 7 (15.5%) rezago en el neurodesarrollo (gris claro) y 19 (42.2%) con riesgo de retraso en el desarrollo (negro). De los pacientes que presentaron riesgo de retraso el 52% fueron del grupo de leucemias y linfomas, el 71% en el grupo de retinoblastoma y el 23% del grupo de tumores sólidos (p = 0.06). CONCLUSIONES: La presencia de riesgo de retraso y rezago en el neurodesarrollo es frecuente en menores de 5 años con diagnóstico de cáncer. Se requieren más estudios, para evaluar el efecto del tratamiento en este grupo de pacientes, ya que pueden influir diversos factores.


Assuntos
Deficiências do Desenvolvimento , Neoplasias , Humanos , Estudos Transversais , Pré-Escolar , Masculino , Feminino , Lactente , Deficiências do Desenvolvimento/etiologia , Deficiências do Desenvolvimento/epidemiologia , Transtornos do Neurodesenvolvimento/epidemiologia , Transtornos do Neurodesenvolvimento/etiologia , Retinoblastoma , Estado Nutricional , Desenvolvimento Infantil/fisiologia , Sobreviventes de Câncer/estatística & dados numéricos , Fatores de Risco
14.
Artigo em Inglês | MEDLINE | ID: mdl-39106915

RESUMO

Neurodevelopmental disorders, such as autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD), are characterized by persistent changes in communication and social interaction, as well as restricted and stereotyped patterns of behavior. The complex etiology of these disorders possibly combines the effects of multiple genes and environmental factors. Hence, exposure to insecticides such as imidacloprid (IMI) has been used to replicate the changes observed in these disorders. Lutein is known for its anti-inflammatory and antioxidant properties and is associated with neuroprotective effects. Therefore, the aim of this study was to evaluate the protective effect of lutein-loaded nanoparticles, along with their mechanisms of action, on Drosophila melanogaster offspring exposed to IMI-induced damage. To simulate the neurodevelopmental disorder model, flies were exposed to a diet containing IMI for 7 days. Posteriorly, their offspring were exposed to a diet containing lutein-loaded nanoparticles for a period of 24 h, and male and female flies were subjected to behavioral and biochemical evaluations. Treatment with lutein-loaded nanoparticles reversed the parameters of hyperactivity, aggressiveness, social interaction, repetitive movements, and anxiety in the offspring of flies exposed to IMI. It also protected markers of oxidative stress and cell viability, in addition to preventing the reduction of Nrf2 and Shank3 immunoreactivity. These results demonstrate that the damage induced by exposure to IMI was restored through treatment with lutein-loaded nanoparticles, elucidating lutein's mechanisms of action as a therapeutic agent, which, after further studies, can become a co-adjuvant in the treatment of neurodevelopmental disorders, such as ASD and ADHD.


Assuntos
Comportamento Animal , Drosophila melanogaster , Luteína , Nanopartículas , Nitrocompostos , Animais , Drosophila melanogaster/efeitos dos fármacos , Luteína/farmacologia , Luteína/administração & dosagem , Comportamento Animal/efeitos dos fármacos , Masculino , Feminino , Nitrocompostos/toxicidade , Neonicotinoides/toxicidade , Estresse Oxidativo/efeitos dos fármacos , Inseticidas/toxicidade , Fármacos Neuroprotetores/farmacologia , Fármacos Neuroprotetores/administração & dosagem , Transtornos do Neurodesenvolvimento/prevenção & controle , Transtornos do Neurodesenvolvimento/induzido quimicamente , Transtornos do Neurodesenvolvimento/metabolismo , Antioxidantes/farmacologia , Antioxidantes/metabolismo
15.
Distúrbios Comun. (Online) ; 36(2): e66100, 14/08/2024.
Artigo em Inglês, Português | LILACS | ID: biblio-1586202

RESUMO

Introdução: Alterações no desenvolvimento da fala e linguagem podem estar presentes em pré-escolares com diversos transtornos do neurodesenvolvimento, sendo que, a presença dessas alterações pode indicar um pior prognóstico. Objetivo: Analisar o nível de desenvolvimento dos aspectos linguísticos de crianças pré-escolares com diagnóstico de TDAH. Métodos: Estudo observacional transversal de coleta de dados de forma retrospectiva. Participaram 10 crianças com idade entre 4 anos e 6 anos (9 meninos) com diagnóstico de TDAH realizado por equipe especializada. Os dados coletados para este estudo envolveram o histórico da criança (alterações pré, peri e pós-natal), as medidas de linguagem receptiva e expressiva, vocabulário expressivo, fonologia e aspecto pragmático. A análise estatística foi descritiva. Resultados: as queixas referidas pelos cuidadores/responsáveis englobaram principalmente o comportamento agitado/impulsivo e a linguagem expressiva/fala; em relação à avaliação linguística, algumas crianças não conseguiram finalizar a aplicação de instrumentos de avaliação que eram mais extensos (exigiam maior de tempo de atenção) e complexos. Em relação aos aspectos avaliados, a linguagem expressiva, o aspecto fonológico e o vocabulário expressivo foram os mais alterados (50%, 60% e 50% de alterações respectivamente). O tratamento fonoaudiológico foi indicado para 80% das crianças. Conclusão: alterações de fala e linguagem são prevalentes empré-escolares com TDAH, sendo este um grupo de alto risco. (AU)


Introduction: Changes in speech and language development may be present in preschoolers with various neurodevelopmental disorders, possibly indicating a worse prognosis. Purpose: This study aimed to assess the developmental level of linguistic aspects in preschoolers diagnosed with attention-deficit/hyperactivity disorder (ADHD). Methods: This cross-sectional observational study collected retrospective data from 10 children, aged 4 to 6 years (9 boys), diagnosed with ADHD by a specialized team. Data collection involved a comprehensive examination of the child's history, including pre-, peri-, and post-natal factors, and measures of receptive and expressive language, expressive vocabulary, phonology, and pragmatic aspects. Descriptive statistical analysis was performed. Results: Caregivers/guardians reported complaints primarily related to agitated/impulsive behavior and expressive language/speech difficulties. Some children faced challenges in completing more extensive and complex assessment instruments due to attention deficits. Expressive language, phonological aspects, and expressive vocabulary were identified as the most affected areas, with changes in respectively 50%, 60%, and 50% of cases. Speech-language-hearing therapy was recommended for 80% of the children. Conclusion: The findings highlight the prevalence of speech and language impairments in preschoolers with ADHD, underscoring the importance of early intervention in this high-risk population. (AU)


Introducción: Los cambios en el desarrollo del habla y el lenguaje pueden estar presentes en niños preescolares con diversos trastornos del neurodesarrollo, y la presencia de estos cambios puede indicar un peor pronóstico. Objetivo: Analizar el nivel de desarrollo de los aspectos lingüísticos en niños en edad preescolar con diagnóstico de TDAH. Métodos: Se llevó a cabo un estudio observacional transversal con recolección de datos de manera retrospectiva. Participaron 10 niños con edades entre 4 y 6 años (9 varones) con diagnóstico de TDAH realizado por un equipo especializado. Los datos recolectados para este estudio incluyeron el historial del niño (alteraciones pre, peri y postnatales), medidas de lenguaje receptivo y expresivo, vocabulario expresivo, fonología y aspectos pragmáticos. El análisis estadístico fue descriptivo. Resultados: Las quejas reportadas por los cuidadores/responsables abarcaban principalmente el comportamiento agitado/impulsivo y el lenguaje expresivo/habla; con respecto a la evaluación lingüística, algunos niños no pudieron completar la aplicación de instrumentos de evaluación más extensos (que requerían mayor tiempo de atención) y complejos. En cuanto a los aspectos evaluados, el lenguaje expresivo, el aspecto fonológico y el vocabulario expresivo fueron los más alterados (50%, 60% y 50% de alteraciones respectivamente). Se indicó tratamiento fonoaudiológico para el 80% de los niños. Conclusión: Las alteraciones del habla y el lenguaje son prevalentes en niños en edad preescolar con TDAH, lo que los convierte en un grupo de alto riesgo. (AU)


Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Transtorno do Deficit de Atenção com Hiperatividade , Linguagem Infantil , Prontuários Médicos , Estudos Transversais , Estudos Retrospectivos , Cognição , Transtornos do Neurodesenvolvimento
16.
J Clin Sleep Med ; 20(12): 1879-1885, 2024 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-38958060

RESUMO

STUDY OBJECTIVES: Sleep disturbances are common in neurodevelopmental disorders, affecting patients and caregivers' quality of life. SYNGAP1-associated syndrome, a rare neurodevelopmental disorder, is marked by intellectual disability, developmental delay, epilepsy, and sleep issues. However, research on sleep quality in these individuals is limited. This study aimed to evaluate genetic variants, epilepsy, and sleep patterns in SYNGAP1-associated syndrome patients and their caregivers. METHODS: An online survey was applied to 11 caregivers of individuals diagnosed with SYNGAP1-associated syndrome. Specific clinical inquiries were included, addressing childbirth, previous surgeries, and medication use. Inquiries about epilepsy included type of epilepsy, type and frequency of seizures, antiseizure medications, and complementary nonpharmacological treatments. Children's Sleep Habits Questionnaire was applied to assess the patients' sleep profile. Pittsburgh Sleep Quality Index was used to evaluate the sleep quality of caregivers. RESULTS: Genetic analysis showed heterozygous mutations in SYNGAP1, often leading to loss of function. Epilepsy was present in 82% of participants, with 77.8% having drug-resistant seizures. Using the Children's Sleep Habits Questionnaire, 81.8% of patients exhibited poor sleep habits, including bedtime resistance, anxiety, night awakenings, parasomnias, and daytime sleepiness. Caregivers also reported poor sleep quality according to the Pittsburgh Sleep Quality Index. CONCLUSIONS: This study highlights the high prevalence of epilepsy and sleep problems in SYNGAP1-associated syndrome, impacting both patients and caregivers. Further research is crucial to understand the syndrome's effects on sleep disturbances, emphasizing the need for targeted interventions to improve sleep quality in individuals with rare genetic syndromes and their caregivers. CITATION: Mosini A, Moysés-Oliveira M, Adami L, et al. Subjective sleep assessment in individuals with SYNGAP1-associated syndrome. J Clin Sleep Med. 2024;20(12):1879-1885.


Assuntos
Deficiência Intelectual , Transtornos do Sono-Vigília , Proteínas Ativadoras de ras GTPase , Humanos , Feminino , Masculino , Proteínas Ativadoras de ras GTPase/genética , Transtornos do Sono-Vigília/genética , Transtornos do Sono-Vigília/complicações , Criança , Inquéritos e Questionários , Deficiência Intelectual/genética , Deficiência Intelectual/complicações , Adulto , Epilepsia/genética , Epilepsia/complicações , Adolescente , Cuidadores/psicologia , Pré-Escolar , Adulto Jovem , Qualidade do Sono , Deficiências do Desenvolvimento/genética , Deficiências do Desenvolvimento/complicações , Transtornos do Neurodesenvolvimento/genética , Transtornos do Neurodesenvolvimento/complicações , Qualidade de Vida
17.
Brain Dev ; 46(9): 294-301, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-39068045

RESUMO

OBJECTIVE: This study aims to investigate the neuroprotective effects of cannabidiol (CBD) on neurodevelopmental impairments in rats subjected to neonatal hypoxia, specifically examining its potential to mitigate motor and sensory deficits without the confounding effects of ischemia. METHODS: Neonatal Sprague-Dawley rats were allocated to one of four groups: Control, Control-CBD, Hypoxia, and Hypoxia-CBD. Hypoxia was induced on postnatal days 0 and 1. CBD (50 mg/kg) was administered orally for 14 days starting at postnatal day 0. Neurodevelopmental outcomes were assessed using the Neurodevelopmental Reflex Testing in Neonatal Rat Pups scale and the Revised Neurobehavioral Severity Scale for rodents. Statistical analyses were conducted using two-way and one-way ANOVA, with Tukey's post-hoc tests for group comparisons. RESULTS: Pup weights were recorded on specified postnatal days, with no significant differences observed across the groups (p = 0.1834). Significant neurological impairments due to hypoxia were noted in the Control group compared to the Hypoxia group, particularly in hindlimb grasping on postnatal day 3 (p = 0.0025), posture on postnatal day 12 (p = 0.0073), and in general balance and sound reflex on postnatal day 20 (p = 0.0016 and p = 0.0068, respectively). Additionally, a statistically significant improvement in posture was observed in the Hypoxia-CBD group compared to the Hypoxia group alone (p = 0.0024). CONCLUSION: Our findings indicate that CBD possesses neuroprotective properties that significantly counteract the neurodevelopmental impairments induced by neonatal hypoxia in rats. This study not only supports the therapeutic potential of CBD in managing conditions characterized by neurodevelopmental challenges due to hypoxia but also underscores the necessity for further investigation into the specific molecular mechanisms driving CBD's neuroprotective effects. Further research is essential to explore CBD's clinical applications and its potential role in treating human neurodevelopmental disorders.


Assuntos
Animais Recém-Nascidos , Canabidiol , Fármacos Neuroprotetores , Ratos Sprague-Dawley , Animais , Canabidiol/farmacologia , Fármacos Neuroprotetores/farmacologia , Ratos , Hipóxia/tratamento farmacológico , Hipóxia/complicações , Masculino , Feminino , Transtornos do Neurodesenvolvimento/prevenção & controle , Transtornos do Neurodesenvolvimento/tratamento farmacológico , Transtornos do Neurodesenvolvimento/etiologia , Modelos Animais de Doenças
18.
J Pediatr ; 274: 114190, 2024 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-39004169

RESUMO

OBJECTIVE: To examine the relationship between inpatient skin-to-skin care rates and neurodevelopmental scores measured at 12 months in very preterm (VPT) infants. STUDY DESIGN: From a retrospective review of medical records of 181 VPT infants (<32 weeks gestational age [GA] at birth), we derived skin-to-skin care rate, ie, total minutes of skin-to-skin care each infant received over the number of days of hospital stay. We used scores on the Capute Scales from routine follow-up assessments at 12 months to measure neurodevelopmental outcomes. RESULTS: Families averaged approximately 17 minutes/day of skin-to-skin care (2 days/week, 70 minutes/session), although there was substantial variability. Variation in skin-to-skin rate was positively associated with outcomes at 12 months corrected age (r = 0.25, P < .001). Skin-to-skin rate significantly predicted 6.2% unique variance in 12-month neurodevelopmental outcomes, after adjusting for GA, socioeconomic status (SES), health acuity, and visitation frequency. A 20-minute increase in skin-to-skin care per day was associated with a 10-point increase (0.67 SDs) in neurodevelopmental outcomes at 12 months. GA and infant health acuity did not moderate these relations. CONCLUSION: VPT infants who experienced more skin-to-skin care during hospitalization demonstrated higher scores on 12-month neurodevelopmental assessments. Results provide evidence that skin-to-skin care confers extended benefits to VPT infants through the first year of life. Skin-to-skin care offers promise as a family-centered intervention designed to promote positive developmental outcomes in at-risk infants.


Assuntos
Recém-Nascido Prematuro , Método Canguru , Humanos , Estudos Retrospectivos , Masculino , Recém-Nascido , Feminino , Lactente , Desenvolvimento Infantil/fisiologia , Lactente Extremamente Prematuro/crescimento & desenvolvimento , Transtornos do Neurodesenvolvimento/etiologia , Transtornos do Neurodesenvolvimento/epidemiologia , Idade Gestacional , Pacientes Internados
19.
J Pediatr ; 275: 114188, 2024 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-39004171

RESUMO

General pediatricians and those specialized in developmental-behavioral and neurodevelopmental disabilities support children with neurodevelopmental disorders, such as autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD). We identified substantial geographic disparities in pediatrician availability (eg, urban > rural areas), as well as regions with low pediatrician access but high ASD/ADHD prevalence estimates (eg, the US Southeast).


Assuntos
Acessibilidade aos Serviços de Saúde , Transtornos do Neurodesenvolvimento , Pediatras , Humanos , Estados Unidos/epidemiologia , Prevalência , Criança , Pediatras/estatística & dados numéricos , Transtornos do Neurodesenvolvimento/epidemiologia , Acessibilidade aos Serviços de Saúde/estatística & dados numéricos , Disparidades em Assistência à Saúde/estatística & dados numéricos , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Transtorno do Espectro Autista/epidemiologia , Pré-Escolar , Masculino , Feminino
20.
Cytogenet Genome Res ; 164(2): 92-102, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38934155

RESUMO

INTRODUCTION: Neurodevelopmental disorders (NDDs) are diverse and can be explained by either genomic aberrations or single nucleotide variants. Most likely due to methodological approaches and/or disadvantages, the concurrence of both genetic events in a single patient has hardly been reported and even more rarely the pathogenic variant has been regarded as the cause of the phenotype when a chromosomal alteration is initially identified. CASE PRESENTATION: Here, we describe a NDD patient with a 6p nonpathogenic paracentric inversion paternally transmitted and a de novo pathogenic variant in the GRIN2B gene. Molecular-cytogenetic studies characterized the familial 6p inversion and revealed a paternal 9q inversion not transmitted to the patient. Subsequent whole-genome sequencing in the patient-father dyad corroborated the previous findings, discarded inversions-related cryptic genomic rearrangements as causative of the patient's phenotype, and unveiled a novel heterozygous GRIN2B variant (p.(Ser570Pro)) only in the proband. In addition, Sanger sequencing ruled out such a variant in her mother and thereby confirmed its de novo origin. Due to predicted disturbances in the local secondary structure, this variant may alter the ion channel function of the M1 transmembrane domain. Other pathogenic variants in GRIN2B have been related to the autosomal dominant neurodevelopmental disorder MRD6 (intellectual developmental disorder, autosomal dominant 6, with or without seizures), which presents with a high variability ranging from mild intellectual disability (ID) without seizures to a more severe encephalopathy. In comparison, our patient's clinical manifestations include, among others, mild ID and brain anomalies previously documented in subjects with MRD6. CONCLUSION: Occasionally, gross chromosomal abnormalities can be coincidental findings rather than a prime cause of a clinical phenotype (even though they appear to be the causal agent). In brief, this case underscores the importance of comprehensive genomic analysis in unraveling the wide-ranging genetic causes of NDDs and may bring new insights into the MRD6 variability.


Assuntos
Inversão Cromossômica , Transtornos do Neurodesenvolvimento , Receptores de N-Metil-D-Aspartato , Feminino , Humanos , Masculino , Cromossomos Humanos Par 6/genética , Transtornos do Neurodesenvolvimento/genética , Linhagem , Fenótipo , Receptores de N-Metil-D-Aspartato/genética , Sequenciamento Completo do Genoma
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