Cognitive Delay Research Articles

Visual Environment Aspects of Public Building Design for People with Down Syndrome

Down syndrome is a trisomy genetic disorder resulting in cognitive delays in the fetus. Cognitive impairment in Down syndrome affects short-term memory and motor impairment due to the characteristic hypotonia of the muscles. People with Down syndrome tend to be visual learners. Through visuals, they are easier to remember and repeat. Visual memory in Down syndrome is better than auditory memory in receiving information. Therefore, the visual environment aspect is presented as a facility in architectural element designs to improve cognition, memory, and motor skills in the wayfinding orientation stimulus. Aspects of the visual environment are offered to stimulate the sensory vision repeatedly. Sensory architecture has a role in activating the body in receiving information, exploring the world, providing taste, and forming social relationships. This paper aims to discuss the design of the visual environment in stimulating the sensory vision of people with Down syndrome to facilitate wayfinding orientation. Visual environment design through colours, patterns, materials, and light are presented as tools to activate visual understanding in responding to and remembering wayfinding orientations. Aspects of the visual environment are communication and encouraging physical activity for users.

Utilization of Early Intervention Among Children with Sickle Cell Disease

Background: The most prevalent monogenic disorder among children is sickle cell disease (SCD). SCD is the most common cause of pediatric stroke and is primarily inherited by people that identify as Black or of African descent. 1,2 Children with SCD have an elevated risk for delayed development and poor academic outcomes. 2 Our previous findings identified that 50% of children with SCD have a developmental delay, however, <5% were receiving therapy services. 3-5 Home-based programs have ameliorated cognitive and language delays in children with SCD. 6 In the United States, home-based therapy services (e.g., occupational, physical, and speech therapy) are provided through a federally mandated program called Early Intervention for free or reduced cost for children with developmental delay <3 years of age. 7 Unfortunately, this program is underutilized, especially in underserved and minoritized communities, with as few as 2% of eligible children receiving services. 8,9 Hematologists, who are tasked with providing ongoing medical care for young children with SCD, often lack the resources/tools needed to incorporate developmental screening into standard care. Thus, early indicators of developmental delay remain undetected and untreated, costing children and families precious time to intervene early. 6,10,11 This study aimed to assess the use of early intervention and determinants affecting participation in developmental screening and intervention among caregivers of children 0-4 years of age with SCD. Methods: We recruited caregivers with children under 4 years of age with SCD from clinics in St. Louis, Missouri and Memphis, Tennessee. Semi-structured interviews based on the Reach-Effectiveness-Adoption-Implementation-Maintenance (RE-AIM) framework were used to describe determinants for referral success and describe the mechanisms (barriers and facilitators) that influence early intervention program utilization. 12 Interviews included open-ended to address topics related to reach, perceived effectiveness, and likelihood of adoption of early intervention if recommended. Additional questions assessed caregiver knowledge of developmental delays in SCD and utilization of screening and intervention. Results: Among 127 caregivers identified as eligible, 47 consented and 20 completed an interview between September 2022 and February 2023. Similar to prior studies, over half of caregivers reported living in a low-income household, over half of children had hemoglobin SS and all participants identified as Black or African American. Interviews lasted between 15-75 minutes (mean = 34). Three themes emerged from the data including 1) Caregivers have not been informed about elevated risk for developmental delay, 2) Caregivers prioritize connecting with their provider and 3) Caregivers had not been adequately informed about early intervention services (Table 1). Conclusions: This study highlights the low utilization of early intervention services for young children with SCD. Caregivers expressed frustration with the lack of awareness regarding the elevated risk for developmental delays and prioritize that information coming from their specialty providers (e.g., sickle cell clinic). Additionally, inadequate information about available services contributes to underutilization. As healthcare providers, we are tasked with increasing awareness about the associated risks of SCD, integrating developmental screening into standard care, and providing caregivers with information that could improve developmental outcomes for children with SCD.

Early-life exposure to unimproved sanitation and delayed school enrollment: Evidence from Bangladesh

Exposure to environmental stressors during early childhood can significantly impact a child’s development and educational outcomes. In this paper, we examine the effects of exposure to unimproved sanitation in the surrounding environment during early childhood on primary school enrollment later in life in Bangladesh between 2007 and 2014. While Bangladesh has made significant progress towards eradicating open defecation, the country still suffers from inadequate access to improved sanitation. Additionally, although policies aiming at improving primary school enrollment have been in place since the 1990s, many children of school age were not enrolled at the appropriate time during the period studied. Using a pseudo-panel dataset for children aged six to nine compiled from the 2007, 2011, and 2014 DHS surveys, we find that children exposed to a higher proportion of unimproved sanitation in their community early in their life are less likely to be enrolled in primary school at the time of survey by about five percentage points on average, indicating delayed school enrollment. This effect is more pronounced for children aged six and seven than those eight and nine, likely because parents of children experiencing poor health or cognitive development delay enrolling their children in school until they are slightly older or healthier. Our results are robust to potential omitted variable biases and are further supported by additional analyses on matched samples. Taken all together, our findings highlight that increasing coverage of improved sanitation facilities can help improve school enrollment rates. However, this should not only occur at the household level alone but also should extend to cover all households in the community to ensure achieving maximum benefits. The findings indicate that the provision of safer sanitation facilities is not only good by itself but also is crucial for achieving improvements throughout the human capital development cycle, including health and nutrition, as well as education.

Thalamic connectivity topography in newborns with spina bifida: association with neurological functional level but not developmental outcome at 2years.

Spina bifida affects spinal cord and cerebral development, leading to motor and cognitive delay. We investigated whether there are associations between thalamocortical connectivity topography, neurological function, and developmental outcomes in open spina bifida. Diffusion tensor MRI was used to assess thalamocortical connectivity in 44 newborns with open spina bifida who underwent prenatal surgical repair. We quantified the volume of clusters formed based on the strongest probabilistic connectivity to the frontal, parietal, and temporal cortex. Developmental outcomes were assessed using the Bayley III Scales, while the functional level of the lesion was assessed by neurological examination at 2 years of age. Higher functional level was associated with smaller thalamo-parietal, while lower functional level was associated with smaller thalamo-temporal connectivity clusters (Bonferroni-corrected P < 0.05). Lower functional levels were associated with weaker thalamic temporal connectivity, particularly in the ventrolateral and ventral anterior nuclei. No associations were found between thalamocortical connectivity and developmental outcomes. Our findings suggest that altered thalamocortical circuitry development in open spina bifida may contribute to impaired lower extremity function, impacting motor function and independent ambulation. We hypothesize that the neurologic function might not merely be caused by the spinal cord lesion, but further impacted by the disruption of cerebral neuronal circuitry.

Cognitive Functioning of Children in Out-of-Home Care

Purpose: Most children who enter out-of-home care (OHC) have been subjected to prolonged maltreatment. Maltreatment potentially contributes to a cumulative deficit in neurocognitive maturation and development that is likely to proceed with the child’s placement into OHC and persist throughout adulthood. From the theoretical perspective of how maltreatment may affect the developing brain, this study examines the IQ and executive function of children placed in OHC on standardized, norm-referenced measures. Furthermore, the study investigates the prevalence of serious cognitive delays, defined by scores in the clinical range on the administered instruments. Methods: The study included 153 children in foster care (66% female), aged 6–15 (M = 10.5, SD = 2.1). Independent two-sample t-tests were run to test for significant differences between the sample and the norm population on the applied neuropsychological measures. Results: The results showed that discrepancies in cognitive development were global in scope, with the children lagging significantly behind the norm population on all applied measures with discrepancies ranging from 0.61 to 2.10 SD (p < .001). Also, serious developmental delays in all cognitive domains were vastly overrepresented in the sample ranging from 11.3% (IQ) to 66.0% (executive function). Conclusions: The results document a very high prevalence of cognitive deficits and delays among the children in the sample. The implications of identifying the neurocognitive effects of maltreatment in the practices of the child welfare system are discussed in terms of developing suitable assessment and intervention strategies.

Attention network training promotes selective attention of children with low socioeconomic status

The objectives of this study were to evaluate the difference of selective attention efficiency between children with low and high socioeconomic status (SES) and the promotional effect of attention network training (an attention network test was used as the training task) on selective attention in children with the low SES. A total of 139 10- to 12-year-old children participated in two experiments (71 in Experiment 1 and 68 in Experiment 2). The results suggest that selective attention and switch ability of children with high SES are better than those of children with low SES. After attention network training, selective attention, switch ability, and working memory of low-SES children improved significantly. The findings provide evidence that attention network training could enhance selective attention in low-SES children and that the beneficial training effect could also transfer to switch ability and working memory. The research may provide a promising method to compensate cognitive delay of low-SES children.

Investigation of Attachment Style and Theory of Mind Skills in Mothers of Children with Cognitive Delay

Investigation of Attachment Style and Theory of Mind Skills in Mothers of Children with Cognitive Delay

Prenatal Lead Exposure, Genetic Factors, and Cognitive Developmental Delay

Although the effects of lead (Pb) exposure on neurocognition in children have been confirmed, the individual associations of prenatal Pb exposure and its interaction with genetic factors on cognitive developmental delay (CDD) in children remain unclear. To investigate the association of prenatal Pb exposure and its interaction with genetic factors with CDD risk. Women in Wuhan, China, who had an expected delivery date between March 2014 and December 2017, were recruited for this prospective cohort study. Children were assessed for cognitive development at approximately 2 years of age (March 2016 to December 2019). Maternal venous blood, cord blood, and venous blood from children were collected in a longitudinal follow-up. Data analysis was performed from March 2022 to February 2023. Prenatal Pb exposure, and genetic risk for cognitive ability evaluated by polygenic risk score constructed with 58 genetic variations. Cognitive developmental delay of children aged approximately 2 years was assessed using the Chinese revision of the Bayley Scale of Infant Development. A series of multivariable logistic regressions was estimated to determine associations between prenatal Pb exposure and CDD among children with various genetic backgrounds, adjusting for confounding variables. This analysis included 2361 eligible mother-child pairs (1240 boys [52.5%] and 1121 girls [47.5%]; mean [SD] ages of mothers and children, 28.9 [3.6] years and 24.8 [1.0] months, respectively), with 292 children (12.4%) having CDD. Higher maternal Pb levels were significantly associated with increased risk of CDD (highest vs lowest tertile: odds ratio, 1.55; 95% CI, 1.13-2.13), adjusting for demographic confounders. The association of CDD with maternal Pb levels was more evident among children with higher genetic risk (highest vs lowest tertile: odds ratio, 2.59; 95% CI, 1.48-4.55), adjusting for demographic confounders. In this cohort study, prenatal Pb exposure was associated with an increased risk of CDD in children, especially in those with a high genetic risk. These findings suggest that prenatal Pb exposure and genetic background may jointly contribute to an increased risk of CDD for children and indicate the possibility for an integrated strategy to assess CDD risk and improve children's cognitive ability.

A New Computer-Aided Method for Assessing Children's Cognition in Bioengineering Systems for Diagnosing Developmental Delay

This pilot study (n = 19) examines fidelity rates of the new computer-aided method of diagnosing cognitive development delay in 3-to-6-year-old children. The small-scale research repeats the methodological components of the previous two studies, only changing the data collection process by introducing the baseline value (BV). Experimental data show a significant increase of 9.4 times in the shared intentionality magnitude in neurodivergent children. The results support the hypothesis that the bioengineering system (computer-mother-child) can encourage shared intentionality in the dyad by emulating the mother-newborn communication model. The outcome shows the association between the shared intentionality magnitude and children's diagnosis. However, the bioengineering diagnostic paradigm and the new BV method still need more evidence since the pilot study observes the effect in a small sample size. The pilot study evaluates the fidelity rates of this new BV method through nine markers. It shows the feasibility (with the limitations) of testing this new BV method in further research with a large sample size.

Doxapram versus placebo in preterm newborns: a study protocol for an international double blinded multicentre randomized controlled trial (DOXA-trial)

BackgroundApnoea of prematurity (AOP) is one of the most common diagnoses among preterm infants. AOP often leads to hypoxemia and bradycardia which are associated with an increased risk of death or disability. In addition to caffeine therapy and non-invasive respiratory support, doxapram might be used to reduce hypoxemic episodes and the need for invasive mechanical ventilation in preterm infants, thereby possibly improving their long-term outcome. However, high-quality trials on doxapram are lacking. The DOXA-trial therefore aims to investigate the safety and efficacy of doxapram compared to placebo in reducing the composite outcome of death or severe disability at 18 to 24 months corrected age.MethodsThe DOXA-trial is a double blinded, multicentre, randomized, placebo-controlled trial conducted in the Netherlands, Belgium and Canada. A total of 396 preterm infants with a gestational age below 29 weeks, suffering from AOP unresponsive to non-invasive respiratory support and caffeine will be randomized to receive doxapram therapy or placebo. The primary outcome is death or severe disability, defined as cognitive delay, cerebral palsy, severe hearing loss, or bilateral blindness, at 18–24 months corrected age. Secondary outcomes are short-term neonatal morbidity, including duration of mechanical ventilation, bronchopulmonary dysplasia and necrotising enterocolitis, hospital mortality, adverse effects, pharmacokinetics and cost-effectiveness. Analysis will be on an intention-to-treat principle.DiscussionDoxapram has the potential to improve neonatal outcomes by improving respiration, but the safety concerns need to be weighed against the potential risks of invasive mechanical ventilation. It is unknown if the use of doxapram improves the long-term outcome. This forms the clinical equipoise of the current trial. This international, multicentre trial will provide the needed high-quality evidence on the efficacy and safety of doxapram in the treatment of AOP in preterm infants.Trial registrationClinicalTrials.gov NCT04430790 and EUDRACT 2019-003666-41. Prospectively registered on respectively June and January 2020.

Epileptic seizures worsen the gait and motor abnormalities in adult patients with Dravet syndrome (with a case report and literature review).

Dravet syndrome (DS), previously known as severe myoclonic epilepsy in infancy (SMEI), is considered the most serious "epileptic encephalopathy." Here, we present a man with a de novo SCN1A mutation who was diagnosed with DS at the age of 29. In addition to pharmaco-resistant seizures and cognitive delay, he also developed moderate to severe motor and gait problems, such as crouching gait and Pisa syndrome. Moreover, it deteriorated significantly following an epileptic seizure. The patient presented with severe flexion of the head and trunk in the sagittal plane and fulfilled the diagnostic criteria for camptocormia and antecollis. After a week, it spontaneously alleviated partially. We applied levodopa to the patient and had a good response. Functional Gait Assessment (FGA) was assessed at three different times: 4 days after the seizure, 1 week after the seizure, and after taking levodopa for 2 years. The results were 4, 12, and 19 points, respectively. We postulated that: (1) gait and motor deficits are somehow influenced by recurrent epileptic episodes;(2) the nigrostriatal dopamine system is involved. To our knowledge, we were the ones who first reported this phenomenon.

FRI452 A Rare Case of Klinefelter Syndrome, 48XXYY

Abstract Disclosure: P. Kachhadia: None. S. Khan: None. S. Aldasouqi: None. A. Abu Limon: None. Introduction: Klinefelter Syndrome (KS), 47XXY, is the most commonly seen chromosomal abnormality causing infertility, or primary hypogonadism. Other chromosomal variants are rare. We present a very rare case of nondisjunction of the sex chromosome resulting in a 48XXYY KS variant. Case Presentation: The patient is a 45-year-old male was referred to our clinic for evaluation of early onset osteoporosis. The patient was accompanied by his sister, given his cognitive delay. On initial physical exam, there was a concern about acromegaly with signs of frontal bossing, increased hand size, increased ring size and increased shoe size. More recent pictures of the patient showed significant changes in his facial appearance from few years prior. Other symptoms included night sweats. Physical exam revealed decreased testicular volume (less than 3mL bilaterally). Pituitary labs showed elevated prolactin, elevated LH, FSH and low free and total testosterone. GH, IGF-1 levels were within normal range. Chromosomal analysis showed an unexpected pattern of 48XXYY. In addition, MRI of the pituitary was done which showed increased infundibular stalk and increase in size of the pituitary gland which was thought to be secondary to pituitary microadenoma. DEXA scan confirmed osteoporosis. Patient was treated with testosterone injections and alendronate. The rationale for alendronate therapy was considered as a bridge to prevent fractures while the bone density would expectedly improve with androgen therapy, over time. Discussion: Although KS is commonly seen at a frequency of 1:500-1:1000 males, less common and variable phenotypical presentations can occur and can lead to a delayed diagnosis. The reason for the delay of diagnosis in these rare KS variants is the cognitive impairment which leads to delayed evaluation of fertility or hypogonadism, as contrasted to patients with the common variant, KS 47XXY. Additionally, unlike the classic KS variant, these rare variants are often associated with learning disabilities and gross bony features. Conclusion: Clinicians should be familiar with different clinical presentations of the less common KS genetic variants, in contrast to classical KS variants. Patients with classical KS typically present early in view of recognizable complaints of infertility, while patients with the less common KS variants may not present early on due to cognitive delay. Thus, familiarity with the additional manifestations of the less common KS variants (e.g., gross bony features) can help clinicians to suspect the possibility of these variants, prompting chromosomal analysis for further evaluation in such patients. Presentation Date: Friday, June 16, 2023

Caffeine versus other methylxanthines for the prevention and treatment of apnea in preterm infants.

Caffeine versus other methylxanthines for the prevention and treatment of apnea in preterm infants.

Auditory Brainstem Response Testing in Children with Speech and Language Pathology: A Non-Randomized Observational Study

Introduction: The aim of this study was to compare auditory brainstem response (ABR) findings of normal-hearing preschool children with different types of speech and language pathology. Methods: This retrospective, non-randomized, cohort study was conducted at a tertiary speech and hearing rehabilitation institution according to STROBE guidelines. The study enrolled 123 preschool children diagnosed with speech language pathology and normal hearing. The participants included children with developmental language disorder, autism spectrum disorder, isolated articulation pathology, organic brain lesions, cognitive delay, and a group of very young children with clinically significant speech development delay. All patients underwent standard ABR procedures. Results: The latencies were the longest in the group of children with organic lesion, followed by the group of children with autism spectrum disorder, then the group with developmental language disorder, and the young children group. In the group of children with articulation pathology and the cognitive delay group, the latencies were the shortest. Conclusion: This study showed a connection between several groups of children with language pathology that includes comprehension problems and prolongation of ABR latencies.

Autistic spectrum disorder and fairy tales: A case study

Introduction: Autism spectrum disorder is a neurodevelopmental disorder identified by atypical behavioral manifestations, which may present a restricted repertoire of interests and activities and poor communication and social interaction. Its etiology remains unknown and is present in more than 500,000 people throughout Brazil. In this article, there is a brief literature review for the basis of the autistic spectrum disorder and its finding in the patient regarding her wonder about the fairytale princess. Case Report: JAD, 17 years old, is a student without comorbidities. She had been diagnosed with Autistic Spectrum Disorder, Cognitive Deficit, and Epilepsy. At 14 months, she started convulsive crises that were difficult to control, about four episodes daily. About ten months ago, an obsession with a specific fairy tale character (Snow White) began. She put herself in the character’s place and suffered from “supposedly” not receiving visits from the entire group that made up the fairy tale. She had severe cognitive delay and disjointed reasoning. She was spoken very little, did not make long sentences. It presented alterations in neuroimaging. Conclusion: After understanding the definition of the disorder, which involves a change in neurodevelopment, whether in the brain anatomy or due to a deficiency in the neuronal circuit, it is noted that even though the diagnosis is clinical, in some cases—including the reported case—the diagnosis imaging can also help to understand possible behavioral changes due to an anatomical abnormality.

Children of a syndemic: co-occurring and mutually reinforcing adverse child health exposures in a prospective cohort of HIV-affected mother-infant dyads in Cape Town, South Africa.

Several HIV-related syndemics have been described among adults. We investigated syndemic vulnerability to hazardous drinking (HD), intimate partner violence (IPV) and household food insecurity (HFIS) in breastfed children born without HIV in urban South Africa. We compared those who were perinatally HIV exposed (CHEU) to those who were not (CHU), under conditions of universal maternal antiretroviral therapy (ART) and breastfeeding. A prospective cohort of pregnant women living with HIV (WLHIV), and without HIV, were enrolled and followed with their infants for 12 months postpartum (2013-2017). All WLHIV initiated antenatal efavirenz-based ART. Measurements of growth (∼3 monthly), infectious cause hospitalisation, ambulatory childhood illness (2-week recall) and neurodevelopment (BSID-III, measured at ∼12 months' age) were compared across bio-social strata using generalised linear regression models, with interaction terms; maternal data included interview-based measures for HD (AUDIT-C), IPV (WHO VAW) and HFIS. Among 872 breastfeeding mother-infant pairs (n = 461 CHEU, n = 411 CHU), WLHIV (vs. HIV negative) reported more unemployment (279/461, 60% vs. 217/411, 53%; p = 0.02), incomplete secondary education (347/461, 75% vs. 227/411, 55%; p < 0.0001), HD (25%, 117/459 vs. 7%, 30/411; p < 0.0001) and IPV (22%, 101/457 vs. 8%, 32/411; p < 0.0001) at enrolment; and HFIS at 12 months (45%, 172/386 vs. 30%, 105/352; p >0.0001). There were positive interactions between maternal HIV and other characteristics. Compared to food secure CHU, the mean difference (95% CI) in weight-for-age Z-score (WAZ) was 0.06 (-0.14; 0.25) for food insecure CHU; -0.26 (-0.42; -0.10) for food secure CHEU; and -0.43 (-0.61; -0.25), for food insecure CHEU. Results were similar for underweight (WAZ < -2), infectious-cause hospitalisation, cognitive and motor delay. HIV-IPV interactions were evident for ambulatory diarrhoea and motor delay. There were HIV-HD interactions for odds of underweight, stunting, cognitive and motor delay. Compared to HD-unexposed CHU, the odds ratios (95% CI) of underweight were 2.31 (1.11; 4.82) for HD-exposed CHU; 3.57 (0.84; 15.13) for HD-unexposed CHEU and 6.01 (2.22; 16.22) for HD-exposed CHEU. These data suggest that maternal HIV-related syndemics may partly drive excess CHEU health risks, highlighting an urgent need for holistic maternal and family care and support alongside ART to optimise the health of CHEU.

A-337 Study of the Relationship between the Variant Dup 4q26 and Autism Spectrum Disorder

Abstract Background Autistic Spectrum Disorder (ASD) refers to a neuronal condition, caused by a disorder in neurodevelopment. With hypersensitivity, repetitive behaviors and other symptoms, this condition has both genetic and environmental causes. The etiology is still not fully known, but it is known that there are chromosomal abnormalities (2%), monogenic syndromes (5%), microduplications and microdeletions (10%), environmental (3%), multifactorial and epigenetic (80%). In 2004, many authors studying the first genome wide screening for chromosomal regions involved in classical autism reported over 354 genetic markers for this disorder. In this context, techniques emerged for identifying these genes for the elucidation and diagnosis of ASD, among others - the Array. Revolutionary high-resolution technique capable of investigating thousands of chromosomal regions, detecting losses and add in a single exam. With this method it is possible to detect CNVs and SNPs (variations in the number of copies and polymorphism of a nucleotide), uniparental disomy and loss of heterozygosity. Objective With this technique, the authors of this study aimed to associate a dup 4q26 variant found with ASD and analyze its classification as a variant of uncertain meaning. Method Genetic data from CGH-ARRAY tests performed from June/2018 to December/2022 were analyzed in a large laboratory in São Paulo- Brazil. 149 patients with variants of uncertain and/or pathogenic significance were selected. Of these, 38 cases were under investigation for ASD, characterized by the diagnostic hypothesis. The authors found 49 variants. Of these, 6.12% were detected on chromosome 1, 4.08% on chromosome 2, 4.08% on chromosome 3, 14.28% on chromosome 4, 4.08% on chromosome 5, 6.12% on chromosome 7, 2.04% on chromosome 8, 6.12% on chromosome 9, 6.12% on chromosome 10, 4.08% on chromosome 11, 2.04% on chromosome 13, 4.08% on chromosome 15, 6.12% on chromosome 16, 6.12% on chromosome 18, 2.04% on chromosome 20, 12.24% on X chromosome and 10.02% on Y chromosome. Results The study showed that chromosome 4 had the highest number of detected variants. Therefore, we carefully analyzed all cases and 2 patients, who did not have consanguinity, had the 4q26 duplication, classified as VOUS (unclear meaning). This duplication is associated with genes:TRAM1L1, LINC01378, NDST3, SNHG8, SNORA24, PRSS12, CEP170P1, LOC729218, LOC101929741, METTL14, SEC24D, SYNPO2, MYOZ2, LOC101929762, USP53, C4orf3, FABP2, LINC01061, GTF2IP12, LOC645513, PDE5A, LINC01365, LOC100996694. Of these genes, only the PRSS12 gene correlated with autism. PRSS12 (Serine Protease 12) encodes a protein secreted by neuronal cells, located in the synaptic cleft and is associated with cognitive impairment. Conclusion The two cases studied had global delay in development with a suggestion, after medical evaluation, of ASD. The findings in the genetic exam did not show other alterations that justify the cognitive delay and the hypothesis of autism only the duplication of the PRSS12 gene. Thus, it is possible that this variant is associated with the observed phenotype and that it could be studied and reclassified as a probably pathogenic variant.

Group well child care and risk for developmental delay: Preliminary findings among Asian immigrants

Group well-child care (GWCC) may promote interactive caregiving and prevent developmental delay. Method: This cross-sectional study explored the association between GWCC attendance and odds for suspected developmental delay among low-income Asian immigrants as measured by the Ages and Stages Questionnaire (ASQ)-III at age 18 months. Results: Odds for suspected developmental delay (OR=0.81, 95 % CI 0.40–1.62) were not significantly lower for GWCC infants. However, odds for developmental risk were significantly lower for GWCC infants in the ASQ’s problem-solving domain (OR= 0.40, 95 % CI 0.17–0.92). Conclusion: Among low-income Asian immigrants, GWCC participation may be associated with lower odds for cognitive developmental delay.

Tissue Oxygenation Changes After Transfusion and Outcomes in Preterm Infants

Preterm infants with varying degrees of anemia have different tissue oxygen saturation responses to red blood cell (RBC) transfusion, and low cerebral saturation may be associated with adverse outcomes. To determine whether RBC transfusion in preterm infants is associated with increases in cerebral and mesenteric tissue saturation (Csat and Msat, respectively) or decreases in cerebral and mesenteric fractional tissue oxygen extraction (cFTOE and mFTOE, respectively) and whether associations vary based on degree of anemia, and to investigate the association of Csat with death or neurodevelopmental impairment (NDI) at 22 to 26 months corrected age. This was a prospective observational secondary study conducted among a subset of infants between August 2015 and April 2017 in the Transfusion of Prematures (TOP) multicenter randomized clinical trial at 16 neonatal intensive care units of the Eunice Kennedy Shriver National Institute of Child Health and Human Development Neonatal Research Network. Preterm neonates with gestational age 22 to 28 weeks and birth weight 1000 g or less were randomized to higher or lower hemoglobin thresholds for transfusion. Data were analyzed between October 2020 and May 2022. Near-infrared spectroscopy monitoring of Csat and Msat. Primary outcomes were changes in Csat, Msat, cFTOE, and mFTOE after transfusion between hemoglobin threshold groups, adjusting for age at transfusion, gestational age, birth weight stratum, and center. Secondary outcome at 22 to 26 months was death or NDI defined as cognitive delay (Bayley Scales of Infant and Toddler Development-III score <85), cerebral palsy with Gross Motor Function Classification System level II or greater, or severe vision or hearing impairment. A total of 179 infants (45 [44.6%] male) with mean (SD) gestational age 25.9 (1.5) weeks were enrolled, and valid data were captured from 101 infants during 237 transfusion events. Transfusion was associated with a significant increase in mean Csat of 4.8% (95% CI, 2.7%-6.9%) in the lower-hemoglobin threshold group compared to 2.7% (95% CI, 1.2%-4.2%) in the higher-hemoglobin threshold group, while mean Msat increased 6.7% (95% CI, 2.4%-11.0%) vs 5.6% (95% CI, 2.7%-8.5%). Mean cFTOE and mFTOE decreased in both groups to a similar extent. There was no significant change in peripheral oxygen saturation (SpO2) in either group (0.2% vs -0.2%). NDI or death occurred in 36 infants (37%). Number of transfusions with mean pretransfusion Csat less than 50% was associated with NDI or death (odds ratio, 2.41; 95% CI, 1.08-5.41; P = .03). In this secondary study of the TOP randomized clinical trial, Csat and Msat were increased after transfusion despite no change in SpO2. Lower pretransfusion Csat may be associated with adverse outcomes, supporting further investigation of targeted tissue saturation monitoring in preterm infants with anemia. ClinicalTrials.gov Identifier: NCT01702805.

Intermittent Hypoxia in Preterm Neonates and Its Effect on Neonatal Morbidity and Mortality: A Systematic Review.

The goal of the present systematic review was to investigate the occurrence patterns of intermittent hypoxemia in newborns throughout the early postnatal period as well as the link between neonatal intermittent hypoxemia exposure and harmful consequences such as neonatal morbidity and death. We collected data from 2014 to 2023 using several abstracting, referencing, and indexing database libraries in the field of medical sciences. A total of 715 papers were evaluated by both authors, and only seven articles met the specified review criteria after a thorough analysis. In preterm neonates with intermittent hypoxia (IH), severe morbidities such as bronchopulmonary dysplasia (BPD), retinopathy of prematurity (ROP), motor impairment, and cognitive delay were found. Only one study that extended to 18 months noted mortality. The length and occurrence of intermittent hypoxemia and the stage of premature neonates at the time of delivery are all closely associated with these morbidities. Therefore, it becomes important to continuously measure the patterns of occurrence of intermittent hypoxemia during early postnatal life to avoid its long-term morbidity and mortality impact.