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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.
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Epilepsia , Hipotermia Inducida , Hipoxia-Isquemia Encefálica , Trastornos del Neurodesarrollo , Humanos , Recién Nacido , Hipoxia-Isquemia Encefálica/terapia , Masculino , Femenino , Brasil/epidemiología , Trastornos del Neurodesarrollo/etiología , Trastornos del Neurodesarrollo/epidemiología , Epilepsia/terapia , Países en Desarrollo , Lactante , Resultado del Tratamiento , Discapacidades del Desarrollo/etiología , Examen Neurológico , Imagen por Resonancia Magnética , Factores de Riesgo , Estudios Retrospectivos , Unidades de Cuidado Intensivo NeonatalRESUMEN
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.
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Discapacidades del Desarrollo , Neoplasias , Humanos , Estudios Transversales , Preescolar , Masculino , Femenino , Lactante , Discapacidades del Desarrollo/etiología , Discapacidades del Desarrollo/epidemiología , Trastornos del Neurodesarrollo/epidemiología , Trastornos del Neurodesarrollo/etiología , Retinoblastoma , Estado Nutricional , Desarrollo Infantil/fisiología , Supervivientes de Cáncer/estadística & datos numéricos , Factores de RiesgoRESUMEN
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.
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Cardiopatías Congénitas , Humanos , Cardiopatías Congénitas/complicaciones , Niño , Trastornos del Neurodesarrollo/etiología , Discapacidades del Desarrollo/etiología , Calidad de Vida , Factores de RiesgoRESUMEN
OBJECTIVE: This study aimed to evaluate the Neuropsychomotor Development (NPMD) of newborns exposed to SARS-CoV-2 in the perinatal period using the Bayley III scale at 6 months of age. METHODS: Childcare appointments were scheduled for the included newborns in the study. During the 6-month consultation, the Screening Test for Bayley III Scale and, based on it, children were classified as "low risk", "moderate risk" or "high risk" in the domains: of cognitive, receptive language, expressive language, fine motor, and gross motor. Those classified as "moderate risk"; or "high risk" received guidance about NPMD stimuli and were instructed to maintain follow-up. RESULTS: Only 13 (37.1 %) of the newborns were classified as low risk in receptive language and 18 (51.4 %) in gross motor skills, with the domains most affected. Prematurity was a risk for cognitive incompetence (moderate risk/high-risk classification) (coefficient: 1.89, Odds Ratio = 6.7, 95 % CI 1.3â35, p = 0.02). Lower birth weight that 2.500g had a similar effect on cognitive incompetence (coefficient: 1.9, Odds Ratio = 6.2, 95 % CI 1.2â32.2, p = 0.02). Exclusive breastfeeding at hospital discharge (n = 8) was protective for incompetence (high risk/moderate risk) in the language domain (coefficient -2.14, OR = 0.12, 95 % CI 0.02â0.71, p = 0.02). CONCLUSIONS: The children included in the study must be monitored and their development monitored in order to clarify whether there is a relationship between the delay in NPMD and perinatal exposure to COVID-19, as delays were observed in these preliminary results.
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COVID-19 , Desarrollo Infantil , Pruebas Neuropsicológicas , SARS-CoV-2 , Humanos , Femenino , Recién Nacido , Masculino , Desarrollo Infantil/fisiología , Lactante , Embarazo , Destreza Motora/fisiología , Discapacidades del Desarrollo/etiología , Factores de RiesgoRESUMEN
INTRODUCTION: The dual diagnosis of Down syndrome and Turner syndrome in the same patient was clinically identified in the early 1950s before the development of karyotyping techniques. After that, several authors reported anecdotal patients and/or reviewed series of Down-Turner double aneuploidies due to a regular 46,X,+21 constitution or different combinations of abnormal cell lines. In such cases, the most typical presentation encompasses the female sex, Down syndrome phenotype, and chromosomal mosaicism. CASE PRESENTATION: Here we report a female patient presenting with short stature, dysmorphic features, developmental delay, and learning disabilities, whose karyotype revealed a previously undescribed 45,X[47]/48,XXX,+21[3] constitution. CONCLUSION: This is the first case encompassing these three aneuploidies together and, contrary to most previous reports, exhibiting a predominantly Turner syndrome phenotype associated with developmental delay.
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Aneuploidia , Discapacidades del Desarrollo , Cariotipo , Síndrome de Turner , Humanos , Femenino , Síndrome de Turner/genética , Discapacidades del Desarrollo/genética , Cariotipificación , Síndrome de Down/genética , Mosaicismo , Cromosomas Humanos X/genética , Discapacidades para el Aprendizaje/genética , FenotipoRESUMEN
INTRODUCTION: The low attendance of families in child developmental follow-up programs for at-risk preterm children is a challenge in Brazil. OBJECTIVE: This study evaluates the feasibility of implementing a developmental follow-up program for Brazilian preterm infants in a hybrid format. METHODS: This is an observational, prospective cohort study, involving preterm infants. Longitudinal developmental test results, the participation frequency in the program, and the number of referrals to early intervention programs were used to assess feasibility. The General Movements (GMs) assessment, Alberta Infant Motor Scale (AIMS) and, Survey of Wellbeing of Young Children (SWYC) Milestones were administered via telehealth. The Bayley-III was administered in-person. RESULTS: Thirty-four preterm infants attended the follow-up until 12 months of corrected age and 18 (52.9 %) concluded all follow-up assessments. Twenty-six (76.5 %) attended all assessments via telehealth, and 26 (76.5 %) attended the in-person assessment. Eighteen (52.9 %) infants showed at least one altered result in development tests. Infants exhibiting abnormal results in the GMs assessment, motor developmental delay according to the AIMS, or developmental delay based on Balley-III were promptly referred to early intervention services. CONCLUSION: This study demonstrated high participation rate and low dropout in a developmental follow-up program employing a hybrid format. The substantial number of identified infants with developmental delay emphasizes the importance of timely detection of motor delays to referral to early intervention services.
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Desarrollo Infantil , Estudios de Factibilidad , Recien Nacido Prematuro , Humanos , Recien Nacido Prematuro/crecimiento & desarrollo , Brasil , Recién Nacido , Masculino , Femenino , Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/epidemiología , Lactante , Estudios Prospectivos , Estudios de Seguimiento , TelemedicinaRESUMEN
PURPOSE: To assess the neurodevelopment outcomes of children younger than 42 months of age with intestinal failure (IF) using prolonged parenteral nutrition (PN) followed by a Pediatric Multidisciplinary Intestinal Rehabilitation Program from a public tertiary hospital in Brazil. METHODS: Bayley III scale was administered in children aged 2 to 42 months with IF and receiving PN for more than 60 days. Composite scores in cognitive, motor, and language domains were analyzed. Developmental delay was defined as a performance 2 standard deviations (SD) below the average at the 3 domains. Association between Bayley III composite scores and clinical variables related to IF were tested. RESULTS: Twenty-four children with median (IQR) age of 17.5 months (9-28.5) were studied, 58.3% were male. Developmental delay was found in 34%, 33% and 27% of the patients in cognitive, motor, and language domains, respectively. There was no significant association between the Bayley-III composite scores and length of hospitalization, prematurity, and number of surgical procedures with anesthesia. CONCLUSION: The study demonstrated impairments in the cognitive, motor and language domains in approximately one-third of young patients with IF on prolonged PN.
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Insuficiencia Intestinal , Nutrición Parenteral , Humanos , Masculino , Femenino , Brasil/epidemiología , Lactante , Nutrición Parenteral/métodos , Nutrición Parenteral/estadística & datos numéricos , Preescolar , Discapacidades del Desarrollo/etiología , Trastornos del Neurodesarrollo/epidemiología , Trastornos del Neurodesarrollo/etiologíaRESUMEN
It is unclear if SARS CoV-2 infection during pregnancy is associated with adverse neurodevelopmental repercussions to infants. We assessed pediatric neurodevelopmental outcomes in children born to mothers with laboratory-confirmed SARS CoV-2 infection during pregnancy. Neurodevelopmental outcomes of in-utero exposed children were compared to that of pre-pandemic control children in Los Angeles (LA), CA, USA and Rio de Janeiro, Brazil. Bayley Scales of Infant and Toddler Development, 3rd edition (Bayley-III), the gold standard tool for evaluating neurodevelopment until 36 months of age and Ages and Stages Questionnaires (ASQ-3), a frequently used screening instrument for evaluating neurodevelopment in this same age group were the assessment tools used. Developmental delay (DD) was defined as having a score < - 2 SD below the norm (< 70) in at least one of three Bayley-III domains, (cognitive, motor or language) or a score below the cut-off (dark zone) in at least one of five ASQ-3 domains (communication, gross motor, fine motor, problem solving, personal-social). Exposed children were born between April 2020 and December 2022 while control children were born between January 2016 to December 2019. Neurodevelopmental testing was performed in 300 children total: 172 COVID-19 exposed children between 5-30 months of age and 128 control children between 6-38 months of age. Bayley-III results demonstrated that 12 of 128 exposed children (9.4%) had DD versus 2 of 128 controls (1.6%), p = 0.0007. Eight of 44 additional exposed children had DD on ASQ-3 testing. Fully, 20 of 172 exposed children (11.6%) and 2 of 128 control children (1.6%), p = 0.0006 had DD. In Rio, 12% of exposed children versus 2.6% of controls, p = 0.02 had DD. In LA, 5.7% of exposed children versus 0 controls, p = 0.12 had DD. Severe/critical maternal COVID-19 predicted below average neurodevelopment in the exposed cohort (OR 2.6, 95% CI 1.1-6.4). Children exposed to antenatal COVID-19 have a tenfold higher frequency of DD as compared to controls and should be offered neurodevelopmental follow-up.
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COVID-19 , Discapacidades del Desarrollo , Complicaciones Infecciosas del Embarazo , Efectos Tardíos de la Exposición Prenatal , SARS-CoV-2 , Humanos , Femenino , COVID-19/epidemiología , Embarazo , Preescolar , Lactante , Masculino , Discapacidades del Desarrollo/etiología , Discapacidades del Desarrollo/virología , Discapacidades del Desarrollo/epidemiología , SARS-CoV-2/aislamiento & purificación , Brasil/epidemiología , Complicaciones Infecciosas del Embarazo/virología , Efectos Tardíos de la Exposición Prenatal/virología , Adulto , Trastornos del Neurodesarrollo/etiología , Trastornos del Neurodesarrollo/virología , Desarrollo Infantil , Los Angeles/epidemiologíaRESUMEN
We present a case study of a patient exhibiting acquired microcephaly along with global developmental delay and drug-resistant epilepsy. Brain magnetic resonance imaging revealed distinctive features, including a Z-shaped morphology of the brainstem, volumetric reduction of white matter, diffuse thinning of the corpus callosum, and partial fusion of the cerebellar hemispheres at their most cranial portion. Whole-exome sequencing uncovered a pathogenic variant in the ARF3 gene c.200A>T, p.(Asp67Val). The neurodevelopmental disorder associated with the ARF3 gene is exceptionally rare, with only two previously documented cases in the literature. This disorder is characterized by global developmental delay and brain malformations, particularly affecting the white matter, cerebellum, and brainstem. It can also manifest as acquired microcephaly and epilepsy. These phenotypic characteristics align with Golgipathies, underscoring the significance of considering this group of conditions in relevant clinical contexts. In cases where a Z-shaped morphology of the brainstem is observed, ARF3-associated disorder should be included in the list of differential diagnoses.
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Factores de Ribosilacion-ADP , Trastornos del Neurodesarrollo , Femenino , Humanos , Factores de Ribosilacion-ADP/genética , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Discapacidades del Desarrollo/genética , Discapacidades del Desarrollo/patología , Secuenciación del Exoma , Predisposición Genética a la Enfermedad , Imagen por Resonancia Magnética , Microcefalia/genética , Microcefalia/patología , Microcefalia/diagnóstico , Mutación/genética , Trastornos del Neurodesarrollo/genética , Trastornos del Neurodesarrollo/patología , Trastornos del Neurodesarrollo/diagnóstico por imagen , Fenotipo , Sustancia Blanca/patología , Sustancia Blanca/diagnóstico por imagen , PreescolarRESUMEN
OBJECTIVES: To determine the benefits of cochlear implantation in hearing loss children with multiple disabilities (MD) in terms of auditory outcomes, speech performance, and their quality of life. METHODS: This was a cross sectional study from January 2019 to December 2020 in which thirty-one children with hearing loss and multiple disabilities were evaluated. Their improvement in auditory and speech performances were assessed using Categories of Auditory Performance version II (CAP-II) and the Speech Intelligibility Rating (SIR) scales. The assessment was done at 6-month intervals, with the baseline evaluation done at least six months after activation of the implant. Parents were asked to fill the Parents Evaluation of Aural/Oral Performance of Children (PEACH) diary and Perceived Benefit Questionnaire (PBQ) to evaluate the child's quality of life. RESULTS: All 31 children have Global Developmental Delay (GDD), with 11 having an additional disability. Both mean CAP-II and SIR scores showed significant improvement with increased hearing age (pâ¯<â¯0.05) after 6-month intervals. In addition, 20 out of 31 children (64.5%) have achieved verbal communication after implantation. The mean PEACH score in quiet was significantly better than in noise (pâ¯=â¯0.007) and improved with the increased of hearing age. The majority of parents (96%â100%) perceived a cochlear implant as beneficial to their child in terms of auditory response, awareness, interaction, communication, and speech development. CONCLUSIONS: Cochlear implantation had shown benefits in children with multiple disabilities. Outcome measures should not only focus on auditory and speech performances but the improvement in quality of life. Hence, individualized each case with realistic expectation from families must be emphasized in this group of children. LEVEL OF EVIDENCE: Level 3.
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Implantación Coclear , Calidad de Vida , Humanos , Estudios Transversales , Masculino , Femenino , Niño , Preescolar , Resultado del Tratamiento , Niños con Discapacidad/rehabilitación , Pérdida Auditiva/cirugía , Pérdida Auditiva/rehabilitación , Encuestas y Cuestionarios , Inteligibilidad del Habla , Percepción del Habla/fisiología , Implantes Cocleares , Lactante , Discapacidades del Desarrollo , AdolescenteRESUMEN
BACKGROUND: Deficiencies in the thyroid hormone transporter monocarboxylate 8 (MCT8) due to pathogenic variants in the SLC16A2 gene (OMIM 300095) result in a complex phenotype with main endocrine and neurologic symptoms. This rare disorder, named Allan-Herndon-Dudley syndrome (AHDS) (OMIM 300523), is inherited in an X-linked trait. One of the prominent features of AHDS is the presence of movement disorders (MD), which are complex and carry a significant burden of the disease. CASES: Patient 1: male with hypotonia since birth, developmental delay, dystonic posturing at 4 months and at 15 months, and startle reaction developed with sensory stimuli. Patient 2: male, at 2 months, shows hypotonia and developmental delay, paroxysmal episodes triggered by a stimulus with sudden blush, tonic asymmetric posture, and no epileptiform activity. At 10 months, generalized dystonic posturing. Patient 3: typical neurodevelopmental milestones until 6 months; at 24 months, dystonia, startle reaction, and upper motoneuron signs. CONCLUSIONS: We aim to describe our patients diagnosed with AHDS, focusing on MD phenomenology and strengthening the phenotype-genotype correlations for this rare condition.
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Hipotonía Muscular , Humanos , Masculino , Hipotonía Muscular/genética , Transportadores de Ácidos Monocarboxílicos/genética , Transportadores de Ácidos Monocarboxílicos/deficiencia , Atrofia Muscular/genética , Atrofia Muscular/patología , Lactante , Trastornos del Movimiento/genética , Discapacidad Intelectual Ligada al Cromosoma X/genética , Discapacidad Intelectual Ligada al Cromosoma X/diagnóstico , Simportadores/genética , Simportadores/deficiencia , Colombia , Preescolar , Fenotipo , Discapacidades del Desarrollo/genéticaRESUMEN
OBJECTIVE: This study aims to investigate the relationship between the Developmental Surveillance Instrument -Instrumento de Vigilância do Desenvolvimento (IVD), found in the Child's Booklet Caderneta da Crianca (CC), and standardized scales: Alberta Infant Motor Scale (AIMS) and Denver Developmental Screening Test (Denver-II). METHODS: Employing an exploratory observational approach, we adopted a prospective longitudinal design with a quantitative approach. The convenience sample included 83 Brazilian children born between May and August 2019 in a public hospital. Of the total, 45 (54.22 %) were male, and 38 (45.78 %) were female. Developmental screening utilized the IVD, AIMS and Denver-II tests. Comparative analysis between groups employed Mann-Whitney or Kruskal-Wallis tests for numerical variables and chi-square/Fisher tests for categorical variables, with a significance level of 5 % (p < 0.05). RESULTS: A significant correlation was observed between the IVD and the AIMS and Denver-II tests (p < 0.001) at months 1, 4, and 8. CONCLUSION: The presence of a robust correlation between the IVD and the AIMS and Denver-II tests at months 1, 4, and 8 implies that the IVD in the Child's Booklet serves as a reliable and effective indicator for screening infant development during this critical period. Detecting issues early through these methods is crucial to ensure the well-being of children, allowing for appropriate interventions as needed.
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Desarrollo Infantil , Discapacidades del Desarrollo , Lactante , Niño , Humanos , Preescolar , Masculino , Femenino , Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/epidemiología , Discapacidades del Desarrollo/prevención & control , Estudios Prospectivos , Proyectos de Investigación , BrasilRESUMEN
To determine if the United States reference values of the Bayley Scales of Infant and Toddler Development, version III motor scale are suitable for Surinamese infants, we assessed 151 healthy infants at 3, 12, 24 and 36 months of age. The mean fine motor, gross motor, and composite scores of the total group did not significantly differ from the US norms, although some significant but not clinically relevant differences were found (lower fine motor scores at 12 months, lower gross motor and total composite scores at 24 months, and higher scores for gross motor and composite scores at 3 months).
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Desarrollo Infantil , Discapacidades del Desarrollo , Lactante , Niño , Humanos , Estados Unidos , Valores de Referencia , Suriname , Destreza MotoraRESUMEN
Syndromic obesity refers to obesity occurring with additional clinical findings, such as intellectual disability/developmental delay, dysmorphic features, and congenital malformations. PURPOSE OF REVIEW: To present a narrative review regarding the genetic etiology, clinical description, and molecular diagnosis of syndromic obesity, which is a rare condition with high phenotypic variability and genetic heterogeneity. The following syndromes are presented in this review: Prader-Willi, Bardet-Biedl, Pseudohypoparathyroidism, Alström, Smith-Magenis, Cohen, Temple, 1p36 deletion, 16p11.2 microdeletion, Kleefstra, SIM1-related, Börjeson-Forssman-Lehmann, WAGRO, Carpenter, MORM, and MYT1L-related syndromes. RECENT FINDINGS: There are three main groups of mechanisms for syndromic obesity: imprinting, transcriptional activity regulation, and cellular cilia function. For molecular diagnostic, methods of genome-wide investigation should be prioritized over sequencing of panels of syndromic obesity genes. In addition, we present novel syndromic conditions that need further delineation, but evidences suggest they have a higher frequency of obesity. The etiology of syndromic obesity tends to be linked to disrupted neurodevelopment (central) and is associated with a diversity of genes and biological pathways. In the genetic investigation of individuals with syndromic obesity, the possibility that the etiology of the syndromic condition is independent of obesity should be considered. The accurate genetic diagnosis impacts medical management, treatment, and prognosis, and allows proper genetic counseling.
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Obesidad , Humanos , Obesidad/genética , Discapacidad Intelectual/genética , Síndrome , Fenotipo , Síndrome de Bardet-Biedl/genética , Síndrome de Prader-Willi/genética , Síndrome de Prader-Willi/diagnóstico , Discapacidades del Desarrollo/genética , Síndrome de Alstrom/genéticaRESUMEN
OBJECTIVE: To determine if time to reaching target temperature (TT) is associated with death or neurodevelopmental impairment (NDI) at 2 years of age in infants with hypoxic-ischemic encephalopathy (HIE). STUDY DESIGN: Newborn infants ≥36 weeks of gestation diagnosed with moderate or severe HIE and treated with therapeutic hypothermia were stratified based on time at which TT was reached, defined as early (ie, ≤4 hours of age) or late (>4 hours of age). Primary outcomes were death or NDI. Secondary outcomes included neurodevelopmental assessment with Bayley Scales of Infant and Toddler Development, third edition (BSID-III) at age 2. RESULTS: Among 500 infants, the median time to reaching TT was 4.3 hours (IWR, 3.2-5.7 hours). Infants in early TT group (n = 211 [42%]) compared with the late TT group (n = 289 [58%]) were more likely to be inborn (23% vs 13%; P < .001) and have severe HIE (28% vs 19%; P = .03). The early and late TT groups did not differ in the primary outcome of death or any NDI (adjusted RR, 1.05; 95% CI, 0.85-0.30; P = .62). Among survivors, neurodevelopmental outcomes did not differ significantly in the 2 groups (adjusted mean difference in Bayley Scales of Infant Development-III scores: cognitive, -2.8 [95% CI, -6.1 to 0.5], language -3.3 [95% CI, -7.4 to 0.8], and motor -3.5 [95% CI, -7.3 to 0.3]). CONCLUSIONS: In infants with HIE, time to reach TT is not independently associated with risk of death or NDI at age 2 years. Among survivors, developmental outcomes are similar between those who reached TT at <4 and ≥4 hours of age. TRIAL REGISTRATION: High-dose Erythropoietin for Asphyxia and Encephalopathy (HEAL); NCT02811263; https://beta. CLINICALTRIALS: gov/study/NCT02811263.
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Hipotermia Inducida , Hipoxia-Isquemia Encefálica , Humanos , Recién Nacido , Frío , Discapacidades del Desarrollo/complicaciones , Hipoxia-Isquemia Encefálica/terapia , Hipoxia-Isquemia Encefálica/complicaciones , TemperaturaRESUMEN
ABSTRACT OBJECTIVE: To describe disability-related performance and inequality nationwide in Brazil, and the changes that took place between 2012 and 2019 after the introduction of Programme for Improving Primary Care Access and Quality (PMAQ). METHODS: We derived scores for disability-related care and accessibility of primary healthcare facilities from PMAQ indicators collected in round 1 (2011-2013), and round 3 (2015-2019). We assessed how scores changed after the introduction of PMAQ. We used census data on per capita income of local areas to examine the disability-specific care and accessibility scores by income group. We undertook ordinary least squares regressions to examine the association between PMAQ scores and per capita income of each local area across implementation rounds. RESULTS: Disability-related care scores were low in round 1 (18.8, 95%CI 18.3-19.3, out of a possible 100) and improved slightly by round 3 (22.5, 95%CI 22.0-23.1). Accessibility of primary healthcare facilities was also poor in round 1 (30.3, 95%CI 29.8-30.8) but doubled by round 3 (60.8, 95%CI 60.3-61.3). There were large socioeconomic inequalities in round 1, with both scores approximately twice as high in the richest compared to the poorest group. Inequalities weakened somewhat for accessibility scores by round 3. These trends were confirmed through regression analyses, controlling for other area characteristics. Disability-related and accessibility scores also varied strongly between states in both rounds. CONCLUSIONS: People with disabilities are being left behind by the Brazilian healthcare system, particularly in poor areas, which will challenge the achievement of universal health coverage.
Asunto(s)
Humanos , Masculino , Femenino , Atención Primaria de Salud , Factores Socioeconómicos , Discapacidades del Desarrollo , Dados Estadísticos , BrasilRESUMEN
OBJECTIVE: To compare endoscopic and histologic upper endoscopy (esophagogastroduodenoscopy [EGD]) findings in children with autism spectrum disorders (ASD) to age- and gender-matched controls with developmental delay (DD) or with typical development (TD). METHODS: Retrospective, cross-sectional study of children undergoing EGD, identifying those diagnosed with ASD, and matching on age and gender to children with DD or TD in ratio of 1:1:2. Rates of EGD findings were compared between the 3 groups using χ² or Fisher exact test. Multivariable linear regression was performed to identify predictors of abnormal histology. RESULTS: A total of 2104 patients were included (526 ASD; 526 DD; 1052 TD). Children with ASD had higher rates of abnormal esophageal histology (ASD 38.4%; DD 33.4%; TD 30.4%, P = .008), particularly esophagitis. In multivariable modeling, ASD diagnosis was an independent predictor of abnormal esophageal histology (OR [95% CI] 1.38 [1.09, 1.76]) compared with TD. Stomach findings did not differ among the groups. In the duodenum, histologic abnormalities were observed with lower frequency in ASD (ASD 17.0%; DD 20.1%; TD 24.2%, P = .005). In multivariable analysis, ASD diagnosis was not a significant predictor (OR 0.78 [0.56, 1.09]) of abnormal duodenal histology. CONCLUSIONS: Children with ASD have higher rates of histologic esophagitis compared with age- and gender-matched DD and TD controls. ASD was a significant independent predictor of abnormal esophageal, but not, duodenal, histology. These results underscore the importance of EGD in children with ASD.
Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Esofagitis , Niño , Humanos , Discapacidades del Desarrollo/diagnóstico , Estudios Retrospectivos , Estudios Transversales , Trastorno del Espectro Autista/diagnóstico , Endoscopía GastrointestinalRESUMEN
Abstract Objective: to determine the association between breastfeeding and associated factors with neuropsychomotor development of children living in social vulnerability. Methods: cross-sectional study within a socially vulnerable community. Households with children aged seven to 72 months, and their biological mothers were included. Sociodemographic, anthropometric and breastfeeding variables were collected using questionnaires, and neuropsychomotor development was assessed using the Denver II screening test. Adjusted prevalence ratios were calculated using multivariable models, oriented by directed acyclic graphs. Results: from the 654 households visited, 224 mother-child binomials were included. The mean age of children was 28 (18.7) months, and 143 (63.8%) of them presented suspected delay in neuropsychomotor development. Mothers presented a median of 8 years of formal schooling and 64 (28.6%) had performed exclusive breastfeeding for 6 months. Exclusive breastfeeding was not associated with neuropsychomotor development (PR=0.92; CI95%=0.84-1.00). A significant association was observed only with years of formal maternal education (PR=0.98; CI95%=0.97-0.99). A mediation analysis did not show any clear mediator between maternal education and neuropsychomotor development. Conclusions: children living in social vulnerability presented a high prevalence of suspected delay in neuropsychomotor development. Maternal education was the only variable associated with such condition.
Resumo Objetivos: determinar a associação entre o aleitamento materno e fatores associados ao desenvolvimento neuropsicomotor de crianças em extrema vulnerabilidade social. Métodos: estudo transversal conduzido em uma comunidade em vulnerabilidade social, envolvendo crianças de sete a 72 meses, e suas mães biológicas. Variáveis sociodemográficas, antropométricas e de amamentação foram coletadas por meio de questionários e o desenvolvimento neuropsicomotor foi avaliado por meio do teste de triagem Denver II. Razões de prevalência ajustadas foram calculadas usando modelos multivariáveis, orientados por grafos acíclicos direcionados. Resultados: dos 654 domicílios visitados, foram incluídos 224 binômios mãe-filho, com média de idade de 28,8 (18,7) meses, em que 143 (63,8%) crianças apresentavam suspeita de atraso no desenvolvimento neuropsicomotor e 64 (28,6%) haviam realizado aleitamento materno exclusivo até o sexto mês. Aleitamento materno exclusivo por 6 meses não se associou ao desenvolvimento neuropsicomotor (RP= 0,91; IC95%=0,83-1,00). Houve associação significativa observada apenas com anos de escolaridade materna formal (RP=0,97; IC95%=0,96-0,99). Análise de mediação não mostrou nenhum mediador entre escolaridade materna e desenvolvimento neuropsicomotor. Conclusões: destaca-se a alta prevalência de crianças com suspeita de atraso no desenvolvimento neuropsicomotor. A escolaridade materna foi a única variável associada à esta condição.
Asunto(s)
Humanos , Lactante , Preescolar , Niño , Lactancia Materna , Discapacidades del Desarrollo , Escolaridad , Vulnerabilidad Social , Antropometría , Estudios Transversales , Encuestas y Cuestionarios , Factores de Riesgo , Factores SociodemográficosRESUMEN
Resumo A pesquisa teve como objetivo estudar o impacto da ausência do brincar precoce no desenvolvimento psíquico do bebê, quando ele se encontra privado de trocas lúdicas na relação bebê-cuidadora, no contexto das creches. A correlação dos resultados dos instrumentos IRDI, MPPE e AP3 no acompanhamento longitudinal de cinco bebês, dos 8 meses de vida aos 4 anos de idade, apontou que a ausência do brincar precoce resulta no empobrecimento do brincar simbólico e entraves no processo de subjetivação da criança.
Abstract This study investigate the absence of early play, that is, the deprivation of playful exchanges with caregivers in the nursery environment, and its impact on the psychic development of infants. Results from a longitudinal study with five infants, from 8 months to 4 years of age, collected by the IRDI, MPPE and AP3 instruments showed that the absence of early play results in the impoverishment of further symbolic play and in obstacles to the child's subjectivation process.
Resumen La investigación tiene como objetivo estudiar el impacto de la ausencia del juego precoz en el desarrollo psíquico en bebés, cuando estos se encuentran privados de intercambios lúdicos en la relación bebé-cuidador/a. En el ámbito de las guarderías, la correlación de los resultados de los instrumentos IRDI, MPPE y AP3 en el acompañamiento longitudinal de cinco bebés de ocho meses a cuatro años indicó que la ausencia del juego precoz provoca empobrecimiento del juego símbolo e impedimentos en el proceso de subjetividad del niños.
Résumé Cette étude s'intéresse à l'absence de jeux précoces, c'est-à-dire à la privation d'échanges ludiques avec les soignants dans l'espace de la crèche, et à son impact dans le développement psychique des nourrissons. Les résultats d'une étude longitudinale auprès de cinq nourrissons, suivis de 8 mois à 4 ans, recueillis à l'aide des instruments IRDI, MPPE et AP3, ont montré que l'absence de jeux précoces entraîne un appauvrissement des jeux symboliques ultérieurs et des obstacles au processus de subjectivation de l'enfant.
Asunto(s)
Recién Nacido , Lactante , Preescolar , Juego e Implementos de Juego , Cuidado del Niño , Guarderías Infantiles , Desarrollo Infantil , Pruebas Psicológicas , Discapacidades del Desarrollo/psicología , Intervención Educativa Precoz/métodosRESUMEN
Previous research suggests that the Ages and Stages Questionnaire-3rd ed. (ASQ) fine motor domain (FMD) may not be culturally relevant for developmental screening in a rural Guatemalan community, as the FMD accounts for 40% of all abnormal screenings after a needs assessment in this community. We hypothesize this is due to a lack of exposure to objects assessed in the questionnaire, such as blocks or light switches. The FMD scores of rural Guatemalan children (n = 56) participating in a child development program were compared with Spanish- and English-speaking Latinx-American children attending a US primary care clinic and screened at yearly well-child checks. Groups were matched for age gender, and socioeconomic status. Item-level analyses explored differences across the three groups. In the Guatemalan sample, the FMD abnormal score rates were 16%, 62%, and zero in the 12-, 24-, and 36-month-old children, respectively. Abnormal scores for the Guatemalan sample on the 24-month ASQ-3 significantly differed (p = .01) when compared to the Latinx-American groups. The 24-month questionnaire has more questions about objects than the 12- and 36-month questionnaires, which may explain the higher rates of abnormal scores. Developmental screening with ASQ-3 may not adequately capture the skills of children in similar communities.
La investigación previa ha sugerido que el dominio de motricidad fina (FMD) del Cuestionario de Edades y Etapas - Tercera edición (ASQ) pudiera no ser culturalmente relevante para examinar el desarrollo en una comunidad rural de Guatemala, ya que el FMD representa el 40% de todas las examinaciones anormales después de la evaluación de necesidades en esta comunidad. Nuestra hipótesis es que esto se debe a la falta de exposición a objetos evaluados en el cuestionario, tales como bloques o interruptores de luz. Se compararon los puntajes del FMD de niños de áreas rurales en Guatemala (n=56) que participan en un programa de desarrollo del niño con niños norteamericanos latin-x hablantes del español y del inglés, quienes asisten a una clínica de cuidado primario y son examinados en chequeos anuales de rutina para niños sanos. Se clasificaron los grupos según la edad, el género y la condición económica. Los análisis del nivel de cada punto exploraron las diferencias a lo largo de los 3 grupos. En el grupo muestra de Guatemala, los índices de puntajes anormales de FMD fueron 16%, 62% y cero en los niños de 12, 24 y 36 meses de edad, respectivamente. Los puntajes anormales para el grupo de Guatemala en el ASQ-3 a los 24 meses significativamente difirieron (p=0.01) cuando se les comparó con los grupos muestras norteamericanos latin-x. El cuestionario para la edad de 24 meses tiene más preguntas acerca de objetos que los cuestionarios para las edades de 12 y 36 meses, lo cual pudiera explicar los más altos índices de puntajes anormales. La examinación del desarrollo con ASQ-3 pudiera no captar adecuadamente las destrezas de niños en comunidades similares.
Les recherches précédentes suggèrent que le domaine de la motricité fine (FMD en anglais) du Questionnaire des Ages et des Etapes - 3e édition (ASQ en anglais) pourrait ne pas être pertinent sur le point culturel pour le dépistage développemental dans une communauté rurale du Guatémala puisque le FMD explique 40% de tous les dépistages anormaux après une évaluation des besoins dans cette communauté. Nous émettons l'hypothèse que cela est dû au manque d'exposition à des objets évalués dans le questionnaire, comme des blocs ou des interrupteurs (électricité). Les scores de FMD d'enfants de milieu rural au Guatémala (n=56) participant à un programme de développement de l'enfant ont été comparés à ceux d'enfants Latinx-Américains parlant espagnol et anglais, patients d'une clinique de soins primaires aux Etats-Unis d'Amérique et dépisté avec des contrôles de santé annuels. Les groupes ont été assortis par groupe de genre et de statut socioéconomique. Des analyses de précision ont exploré les différences entre les 3 groupes. Dans l'échantillon du Guatémala les taux de score anormal FMD étaient de 16%, 62% et zéro chez les enfants de 12, 24 et 36 mois, respectivement. Les scores anormaux pour l'échantillon du Guatémala pour le ASQ-3 à 24 moi a différé de manière importante (p=0.01) lors de la comparaison aux groupes Latinx-Américains. Le questionnaire de 24 mois a plus de questions sur les objets que les questionnaires de 12 mois et de 36 mois, ce qui peut expliquer les taux plus élevés de scores anormaux. Le dépistage développemental avec le ASQ-3 pourrait s'avérer ne pas capturer de manière adéquate les compétences des enfants dans des communautés similaires.