Assessment of newborn neuropsychomotor development born with exposure to SARS-CoV-2 in the perinatal period using the Bayley III scale at 6 months of age.

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 1.3‒35, 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 1.2‒32.2, 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 0.02‒0.71, 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.

Hybrid developmental follow-up for preterm infants in Brazil: A feasibility study.

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.

Neurodevelopmental disorder associated with gene ARF3: A case report.

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.

Neurodevelopmental delay in children exposed to maternal SARS-CoV-2 in-utero.

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.

Is neurodevelopment impaired in Brazilian children with intestinal failure on prolonged parenteral nutrition? A single center study.

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.

Cochlear implantation outcomes in children with multiple disabilities: a topic that's worth revisiting.

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 (p < 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 (p = 0.007) and improved with the increased of hearing age. The majority of parents (96%‒100%) 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.

Movement Disorder Perspectives on Monocarboxylate 8 Deficiency: A Case Series of 3 Colombian Patients with Allan-Herndon-Dudley Syndrome.

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.

Early childhood development monitoring during the first thousand days: Investigating the relationship between the developmental surveillance instrument and standardized scales.

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.

The United States reference values of the Bayley III motor scale are suitable in Suriname.

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).

A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis.

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.

Time to Reaching Target Cooling Temperature and 2-year Outcomes in Infants with Hypoxic-Ischemic Encephalopathy.

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.

Comparing Gastrointestinal Endoscopy Findings in Children with Autism, Developmental Delay, or Typical Development.

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.

Breastfeeding and factors associated with the neuropsychomotor development of children living in social vulnerability / Aleitamento materno e fatores associados ao desenvolvimento neuropsicomotor de crianças em vulnerabilidade social

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.

O impacto da ausência do brincar precoce no processo do desenvolvimento psíquico do bebê / Absence of early play and its impact on the psychic development of infants / El impacto de la ausencia del juego precoz en el proceso del desarrollo psíquico del bebé / L'absence de jeux précoces et son impact dans le développement psychique des nourrissons

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.

Cultural relevance of fine motor domain of the ASQ in Guatemala.

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.

¿Qué puede esconder el retraso global del desarrollo? A propósito de un caso de causa genética / What can Global Developmental Delay Conceal? Apropos of a Case with a Genetic Cause

Se presenta un niño de 6 años con antecedente de retraso del lenguaje que llevó a sus padres a realizar múltiples consultas. En un primer momento, su cuadro fue interpretado como parte de un retraso global del desarrollo. Posteriormente, el paciente presentó convulsiones y episodios de descompensación metabólica, comenzando desde entonces su seguimiento por los Servicios de neurología, genética y metabolismo. Finalmente, tras varios estudios complementarios, por medio de un exoma trío se arribó al diagnóstico de síndrome de microduplicación del cromosoma 7q11.23, lo que justifica tanto el retraso global de desarrollo del paciente como su clínica neurológica. (AU)

A six-year-old boy presents with a history of language delay that led his parents to make multiple consultations. At first, we interpreted his condition as part of a global developmental delay. Subsequently, the patient presented seizures and episodes of metabolic decompensation, and since then, he had to be followed up by neurology, genetics, and metabolism services. Finally, after several complementary studies, following a trio exome analysis, we diagnosed chromosome 7q11.23 microduplication syndrome, which explains his global developmental delay and neurological symptoms. (AU)

Inpatient Screening for Early Identification of Developmental Risk in Infants with Congenital Heart Defects.

OBJECTIVE: To assess the utility of an inpatient standardized developmental screener for early identification of developmental risk in infants with a congenital heart defect (CHD). STUDY DESIGN: This was a retrospective, observational study with convenience sample of postoperative infants with CHD (aged 3-12 months) who underwent neurodevelopmental screening with the Bayley Scales of Infant and Toddler Development Screening Test, Third Edition (Bayley-III Screener) just before discharge. Follow-up testing included outpatient Bayley Scales of Infant and Toddler Development, Third Edition (Bayley-III) (12-42 mo). RESULTS: The Bayley-III Screener was administered to 325 infants at a median of 5 months, 8 days (IQR 3 months, 28 days, to 7 months, 17 days). Infants scored below age expectations on the Gross Motor (79%), Fine Motor (63%), Receptive Communication (50%), Expressive Communication (38%), and Cognitive (38%) domains. In each domain, children with CHD had greater rates of scores below expectations than the normative sample (each P <.001). The odds of scoring in a greater risk category were increased for infants with genetic syndromes and longer length of hospital stay across all domains. The outpatient Bayley-III (n = 74, 23% follow-up) was completed at a median of 19 months, 9 days (IQR: 17 months, 3 days, to 23 months, 37 days). Individuals falling in greater-risk categories on their initial Bayley-III Screener were significantly more likely to have worse performance on their follow-up outpatient Bayley-III (each domain P < .01). CONCLUSIONS: Inpatient standardized neurodevelopmental screening provides important clinical utility in identifying infants at risk for developmental concern, allows for provision of recommendations for developmental services, and potentially overcomes barriers often noted in returning for outpatient post-discharge assessments.

Developmental delay assessment in children < 5 years of age attended in the Pediatric Rehabilitation Service of a reference hospital in Peru.

BACKGROUND: Child development is a complex biological, psychological, and emotional process. Timely screening for developmental delay allows early interventions. Therefore, this study sought to assess the frequency and characteristics of developmental delay in children < 5 years of age who attended the Pediatric Rehabilitation Service of a referral hospital in Peru. METHODS: We conducted a cross-sectional study. Information was collected from medical records of children < 5 years of age who attended between April and September 2022 at the Rebagliati Hospital's Pediatric Rehabilitation Service. The REBA-PED Child Developmental Assessment Profile was used for the developmental assessment, which allows to identify the degree of delay in each area (gross motor, fine motor, hearing and language, intelligence and learning, and personal-social) and the presence of warning signs. RESULTS: Of 226 children who attended the service, 49.1% were between 3 and 5 years old, 57.1% were female, only 3.1% were referred for suspected developmental delay, and none had had a previous developmental assessment. Among the children evaluated, 12.4% had a simple developmental delay, 19.5% had a significant developmental delay, and 53.5% had a global developmental delay. In addition, 70.8% presented a warning sign of developmental delay. Hearing and language (86.8%) and intelligence and learning (83.5%) areas had a higher frequency of significant developmental delay. CONCLUSIONS: We found a high frequency of developmental delay in the children assessed, predominantly in hearing and language. Although all the children were referred, none had had a previous developmental assessment.

INTRODUCCIÓN: El desarrollo infantil es un proceso complejo de cambios biológicos, psicológicos y emocionales. El despistaje oportuno del retraso del desarrollo permite implementar intervenciones tempranas. Este estudio buscó evaluar la frecuencia y las características del retraso del desarrollo en niños < 5 años atendidos en el Servicio de Rehabilitación Pediátrica de un hospital de referencia de Perú. MÉTODOS: Se llevó a cabo un estudio transversal en el que se recolectó información de niños < 5 años atendidos entre abril y septiembre del 2022 en el Servicio de Rehabilitación Pediátrica del Hospital Rebagliati, para lo cual se revisaron sus historias clínicas. Para la evaluación del desarrollo, se utilizó el Perfil de Evaluación del Desarrollo Infantil REBA-PED, que permite reconocer el grado de retraso por área (motora gruesa, motora fina, audición y lenguaje, inteligencia y aprendizaje, y personal social) y los signos de alarma. RESULTADOS: De 226 niños atendidos, el 49.1% tenía entre 3 a 5 años, el 57.1% era de sexo femenino, solo el 3.1% fue remitido por sospecha de retraso del desarrollo y ninguno había tenido una evaluación previa del desarrollo infantil. Entre los niños evaluados, el 12.4% presentó un retraso simple del desarrollo, el 19.5% presentó un retraso significativo y el 53.5%, un retraso global. Además, el 70.8% presentó algún signo de alarma durante el desarrollo infantil. La frecuencia de retraso significativo fue mayor en las áreas de audición y lenguaje (86.8%) y de inteligencia y aprendizaje (83.5%) tuvieron mayor frecuencia de retraso significativo. CONCLUSIONES: Se encontró una frecuencia elevada de retraso del desarrollo entre los niños evaluados, con predominio del área de audición y lenguaje. Si bien todos los niños fueron referidos, ninguno había tenido una evaluación previa del desarrollo.

Profile of children assisted in a teaching outpatient clinic of developmental disabilities in São Paulo, Brazil.

OBJECTIVE: To analyze the epidemiological and clinical profile of patients with developmental disabilities followed in a university clinic in Brazil. METHODS: Descriptive, retrospective study, based on medical records. Children aged zero to 18 years with developmental problems, firstly evaluated between 2009 and 2018, were included. Patients with missing data or out of the age and time period established were excluded. There were nine losses and 374 patients constituted the final sample. Linear regression models were performed. RESULTS: The mean age at the first assessment was 52.2±39.7 months and the age when the parents perceived the symptoms was 20.9±23.8 months. The most common impairment was motor associated with language delay (28.3%). The interval between the parents' perception and the first consultation was associated with the mothers' education and number of pregnancies. The age at first assessment was associated with the disability type. The number of pregnancies was associated with the child's age when the parents noticed the symptoms and at the first consultation. CONCLUSIONS: Parents' recognition of the symptoms occurred early, however, there was a delay until the arrival at the clinic. Higher maternal education was associated with a shorter gap between perception of the developmental disability and consultation. A greater number of pregnancies was associated with a later perception of the developmental delay by the parents as well as a delay in the assessment and a wider interval between them. Motor problems were the most common in younger children, and language complaints in older ones.

Early diagnosis of autism and other developmental disorders, Brazil, 2013-2019.

OBJECTIVE: To investigate the factors associated with the early diagnosis of autism and other types of pervasive developmental disorder (PDD) in children treated at the Psychosocial Care Center for Children and Adolescents of the Unified Health System, from 2013 to 2019,in Brazil. METHODS: An exploratory cross-sectional study, based on data from the Record of Outpatient Health Actions (RAAS) of the first appointment of children aged 1 to 12 years. The gross (RRg) and adjusted (RRa) relative risks and respective 95% confidence intervals (95%CI) were estimated using the Poisson regression model with robust variance estimation. RESULTS: Of the 22,483 children included in the study, the majority were male (81.9%), lived in the same municipality where they were diagnosed (96.8%) and in the Southeast region (57.7%). Early diagnosis was higher for childhood autism (RRg = 1.48; 95%CI 1.27-1.71) , PDD without subtype designation (RRg = 1.55; 95%CI 1.34-1.80), other PDD (RRg = 1.48; 95%CI 1.21-1.81) and PDD not otherwise specified (RRg = 1.44; 95%CI 1.22-1.69) than for atypical autism. Children residing in the same municipality where the diagnosis was made had a higher rate of early diagnosis (RRg = 1.31; 95%CI 1.10-1.55) than the others; as well as those referred by primary care (RRg = 1.51; 95%CI 1.37-1.68) and by spontaneous demand (RRg = 1.45; 95%CI 1.31-1.61) than those from other types of referral. Early diagnosis was higher from 2014 and lower in the North region than in the other regions. In the multiple analysis, the magnitude of RRa was similar to that of RRg. CONCLUSIONS: Early identification of autism and other PDD has improved in Brazil, but it still represents about 30% of the diagnoses made. The variables included in the model were significant, but still explain little of the early diagnosis of children with autism and other PDD.