Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing.

BACKGROUND: Trio-based whole-exome sequencing (trio-WES) enables identification of pathogenic variants, including copy-number variants (CNVs), in children with unexplained neurodevelopmental delay (NDD) and neurodevelopmental comorbidities (NDCs), including autism spectrum disorder (ASD), epilepsy, and attention deficit hyperactivity disorder. Further phenotypic and genetic analysis on trio-WES-tested NDD-NDCs cases may help to identify key phenotypic factors related to higher diagnostic yield of using trio-WES and novel risk genes associated with NDCs in clinical settings. METHODS: In this study, we retrospectively performed phenotypic analysis on 163 trio-WES-tested NDD-NDCs children to determine the phenotypic differences between genetically diagnosed and non-genetically diagnosed groups. Additionally, we conducted genetic analysis of ASD genes with the help of Simons Foundation for Autism Research Institute (SFARI) Gene database to identify novel possible ASD-risk genes underlying genetic NDD conditions. RESULTS: Among these 163 patients, pathogenic variants were identified in 82 cases (82/163, 50.3%), including 20 cases with CNVs. By comparing phenotypic variables between genetically diagnosed group (82 cases) and non-genetically diagnosed group (81 cases) with multivariate binary logistic regression analysis, we revealed that NDD-NDCs cases presenting with severe-profound NDD [53/82 vs 17/81, adjusted-OR (95%CI): 4.865 (2.213 - 10.694), adjusted-P < 0.001] or having multiple NDCs [26/82 vs 8/81, adjusted-OR (95%CI): 3.731 (1.399 - 9.950), adjusted-P = 0.009] or accompanying ASD [64/82 vs 35/81, adjusted-OR (95%CI): 3.256 (1.479 - 7.168), adjusted-P = 0.003] and head circumference abnormality [33/82 vs 11/81, adjusted-OR (95%CI): 2.788 (1.148 - 6.774), adjusted-P = 0.024] were more likely to have a genetic diagnosis using trio-WES. Moreover, 37 genes with monogenetic variants were identified in 48 patients genetically diagnosed with NDD-ASD, and 15 dosage-sensitive genes were identified in 16 individuals with NDD-ASD carrying CNVs. Most of those genes had been proven to be ASD-related genes. However, some of them (9 genes) were not proven sufficiently to correlate with ASD. By literature review and constructing protein-protein interaction networks among these 9 candidate ASD-risk genes and 102 established ASD genes obtained from the SFARI Gene database, we identified CUL4B, KCNH1, and PLA2G6 as novel possible ASD-risk genes underlying genetic NDD conditions. CONCLUSIONS: Trio-WES testing is recommended for patients with unexplained NDD-NDCs that have severe-profound NDD or multiple NDCs, particularly those with accompanying ASD and head circumference abnormality, as these independent factors may increase the likelihood of genetic diagnosis using trio-WES. Moreover, NDD patients with pathogenic variants in CUL4B, KCNH1 and PLA2G6 should be aware of potential risks of developing ASD during their disease courses.

Genetic heterogeneity in epilepsy and comorbidities: insights from Pakistani families.

BACKGROUND: Epilepsy, a challenging neurological condition, is often present with comorbidities that significantly impact diagnosis and management. In the Pakistani population, where financial limitations and geographical challenges hinder access to advanced diagnostic methods, understanding the genetic underpinnings of epilepsy and its associated conditions becomes crucial. METHODS: This study investigated four distinct Pakistani families, each presenting with epilepsy and a spectrum of comorbidities, using a combination of whole exome sequencing (WES) and Sanger sequencing. The epileptic patients were prescribed multiple antiseizure medications (ASMs), yet their seizures persist, indicating the challenging nature of ASM-resistant epilepsy. RESULTS: Identified genetic variants contributed to a diverse range of clinical phenotypes. In the family 1, which presented with epilepsy, developmental delay (DD), sleep disturbance, and aggressive behavior, a homozygous splice site variant, c.1339-6 C > T, in the COL18A1 gene was detected. The family 2 exhibited epilepsy, intellectual disability (ID), DD, and anxiety phenotypes, a homozygous missense variant, c.344T > A (p. Val115Glu), in the UFSP2 gene was identified. In family 3, which displayed epilepsy, ataxia, ID, DD, and speech impediment, a novel homozygous frameshift variant, c.1926_1941del (p. Tyr643MetfsX2), in the ZFYVE26 gene was found. Lastly, family 4 was presented with epilepsy, ID, DD, deafness, drooling, speech impediment, hypotonia, and a weak cry. A homozygous missense variant, c.1208 C > A (p. Ala403Glu), in the ATP13A2 gene was identified. CONCLUSION: This study highlights the genetic heterogeneity in ASM-resistant epilepsy and comorbidities among Pakistani families, emphasizing the importance of genotype-phenotype correlation and the necessity for expanded genetic testing in complex clinical cases.

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.

Direct Support Professionals: Diversity, Disparities, and Deepening Crisis.

In the United States, direct support professionals (DSPs) support people with intellectual and developmental disabilities (IDD) so they can live in the community. Thirty years of deinstitutionalization and the development of community living options would not have been possible without DSPs. Although life for people with IDD improved greatly, working conditions, wages/benefits, demands, stress/burnout, and trauma experienced by DSPs have worsened. Turnover and vacancy rates threaten the availability of community supports for too many people with IDD. DSPs from diverse racial, ethnic, linguistic, and cultural backgrounds face significant workplace disparities. These issues were discussed during the Research and Training Center on Community Living's 2022 State of the Science Conference. We propose important research questions needing solutions to continue constructively addressing these critical issues.

Predictability of the neurodevelopmental assessment based on the Kyoto Scale of Psychological Development 2001 at 18-24 months of corrected age and 3 years of age in identifying cognitive impairment at 6 years of age in very preterm infants: A retrospective study at a Japanese tertiary center.

BACKGROUND: It is unknown how accurately the current Japanese classification system for neurodevelopmental delay based on the assessment with the Kyoto Scale of Psychological Development (KSPD) at toddlerhood and pre-school periods predicts cognitive impairment at school age. METHODS: This single-center retrospective cohort study enrolled infants born at 22-29 weeks of gestational age. At 18-24 months of corrected age and 3 years of age, the patients were categorized according to the current Japanese criteria for neurodevelopmental delay based on their overall developmental quotient calculated using the KSPD-2001. Cognitive impairment at 6 years of age was classified according to the calculated or estimated full-scale intelligence quotient. The predictability of the current Japanese classification of neurodevelopmental delay for cognitive impairment at 6 years of age was investigated. RESULTS: Of 566 eligible patients, 364 (64 %) completed the protocol. The current classification for the neurodevelopmental delay showed significant agreement with the severity of cognitive impairment at 6 years of age. The sensitivity and specificity of the KSPD-2001-based assessment for any cognitive impairment at 6 years of age were 0.64 and 0.74 at 18-24 months of corrected age and 0.83 and 0.70 at 3 years of age. The corresponding sensitivity and specificity for moderate/severe cognitive impairment were 0.51 and 0.96 at 18-24 months of corrected age and 0.68 and 0.95 at 3 years of age. CONCLUSION: The KSPD-2001 is a useful tool to predict the severity of cognitive impairment at school age.

Prevalence and determinants of developmental delay among children in low- and middle-income countries: a systematic review and meta-analysis.

Background: Developmental delay is a public health problem in low- and middle-income countries. However, there is no summarized evidence in low- and middle-income countries on developmental delay, and primary studies on this issue show varied and inconclusive results. This systematic review and meta-analysis aimed to assess the pooled magnitude of confirmed developmental delay and its determinants among children in low- and middle-income countries. Methods: We followed the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines to write this systematic review and meta-analysis. Primary studies were searched from PubMed, PsycINFO, Hinari, Science Direct, African Journal of Online, Web of Science, and Google Scholar databases. The Newcastle-Ottawa Scale, adapted for the cross-sectional studies, was used to assess the quality of the included studies. Heterogeneity and publication bias were assessed by the I2 and Eggers tests, respectively. Due to the high heterogeneity, the random effects model was used for analysis. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to show the association between developmental delay and its determinants. Results: The pooled prevalence of confirmed developmental delay was 18.83, 95% CI (15.53-22.12). In the subgroup analysis, a high prevalence of developmental delay [26.69% (95% CI, 15.78-37.60)] was observed in studies performed in Africa. Maternal education [3.04; 95% CI (2.05, 4.52)] and low birth weight [3.61; 95% CI (1.72, 7.57)] were significant determinants of developmental delay. Conclusion: The pooled prevalence of developmental delay in low- and middle-income countries was high as compared to that in high-income countries. Maternal education level and weight at birth were significantly associated with developmental delays. Therefore, strategies should be designed to decrease the rate of low birth weight and the number of illiterate mothers living in low- and middle-income countries. Systematic review registration: PROSPERO, CRD42024513060.

Ventilation during COVID-19 in a school for students with intellectual and developmental disabilities (IDD).

BACKGROUND: This study examined the correlation of classroom ventilation (air exchanges per hour (ACH)) and exposure to CO2 ≥1,000 ppm with the incidence of SARS-CoV-2 over a 20-month period in a specialized school for students with intellectual and developmental disabilities (IDD). These students were at a higher risk of respiratory infection from SARS-CoV-2 due to challenges in tolerating mitigation measures (e.g. masking). One in-school measure proposed to help mitigate the risk of SARS-CoV-2 infection in schools is increased ventilation. METHODS: We established a community-engaged research partnership between the University of Rochester and the Mary Cariola Center school for students with IDD. Ambient CO2 levels were measured in 100 school rooms, and air changes per hour (ACH) were calculated. The number of SARS-CoV-2 cases for each room was collected over 20 months. RESULTS: 97% of rooms had an estimated ACH ≤4.0, with 7% having CO2 levels ≥2,000 ppm for up to 3 hours per school day. A statistically significant correlation was found between the time that a room had CO2 levels ≥1,000 ppm and SARS-CoV-2 PCR tests normalized to room occupancy, accounting for 43% of the variance. No statistically significant correlation was found for room ACH and per-room SARS-CoV-2 cases. Rooms with ventilation systems using MERV-13 filters had lower SARS-CoV-2-positive PCR counts. These findings led to ongoing efforts to upgrade the ventilation systems in this community-engaged research project. CONCLUSIONS: There was a statistically significant correlation between the total time of room CO2 concentrations ≥1,000 and SARS-CoV-2 cases in an IDD school. Merv-13 filters appear to decrease the incidence of SARS-CoV-2 infection. This research partnership identified areas for improving in-school ventilation.

Association between the COVID-19 pandemic and childhood development aged 30 to 36 months in South Korea, based on the National health screening program for infants and children database.

BACKGROUND: The coronavirus disease 2019 (COVID-19) pandemic has had a significant impact on the neurodevelopment of children. However, the precise effects of the virus and the social consequences of the pandemic on pediatric neurodevelopment are not yet fully understood. We aimed to compare the neurodevelopment of children between before and during the COVID-19 pandemic, as well as examine the impact of socioeconomic status (SES) and regional differences on the development. METHODS: The study used the Korean Developmental Screening Test to compare the difference in the risk of neurodevelopmental delay between before and during the COVID-19 pandemic. Multivariable logistic regression analysis was conducted to identify the relationship between experiencing the COVID-19 pandemic and the risk of neurodevelopmental delay. Stratified analyses were performed to determine whether the developmental delays caused by the pandemic's impact varied depending on SES or regional inequality. RESULTS: This study found an association between the experience of COVID-19 and a higher risk of neurodevelopmental delay in communication (adjusted OR [aOR]: 1.21, 95% confidence interval [CI]: 1.19, 1.22; P-value: < 0.0001) and social interaction (aOR: 1.15, 95% CI: 1.13, 1.17; P-value: < 0.0001) domains among children of 30-36 months' ages. Notably, the observed association in the Medicaid group of children indicates a higher risk of neurodevelopmental delay compared to those in the non-Medicaid group. CONCLUSIONS: These findings highlight the need to be concerned about the neurodevelopment of children who experienced the COVID-19 pandemic. The study also calls for increased training and support for Medicaid children, parents, teachers, and healthcare practitioners. Additionally, policy programs focused on groups vulnerable to developmental delays are required.

Gestational Age and Neurodevelopmental Delay in Term Births at 6 and 12 Months: The Japan Environment and Children's Study (JECS).

BACKGROUND: In the recent years, a high risk of developmental delay not only in very low birth weight infants and late preterm infants but also in early term infants (37-38 weeks) have increasingly been reported. However, in Japan, there are virtually no studies regarding the development delays in early term infants. METHODS: This study used the data from the Japan Environment and Children's Study (JECS), a birth cohort study conducted in Japan. Data were selected for analysis from the records of 104,065 fetal records. The risk of neurodevelopmental delays at 6 months and 12 months after birth was evaluated using multivariate analysis for infants of various gestational ages, using the 40th week of pregnancy as a reference value. Neurodevelopment was evaluated at 6 months and 12 months after birth using the Ages and Stages Questionnaires, Japanese translation (J-ASQ-3). RESULTS: The proportion of infants born at a gestational age of 37 to 38 weeks who did not reach the J-ASQ-3 score cutoff value was significantly higher in all areas at both 6 months and 12 months after birth, when compared to that of infants born at 40 weeks. The odds ratio decreased at 12 months after birth compared to that at 6 months after birth. CONCLUSION: Early term infants in Japan are at an increased risk of neurodevelopmental delay at 12 months after birth.

Comparison of neurodevelopmental, educational and adult socioeconomic outcomes in offspring of women with and without epilepsy: A systematic review and meta-analysis.

BACKGROUND: Adequate pre-pregnancy counselling and education planning are essential to improve outcomes for offspring of women with epilepsy (OWWE). The current systematic review and meta-analysis aimed to compare outcomes for OWWE and offspring of women without epilepsy (OWWoE). METHODS: We conducted a systematic review and meta-analysis. We searched MEDLINE, EMBASE, CINAHL, PsycINFO (database inception-1st January 2023), OpenGrey, GoogleScholar, and hand-searched journals and reference lists of included studies to identify eligible studies. We placed no language restrictions and included observational studies concerning OWWE and OWWoE. We followed the PRIMSA checklist for abstracting data. The Newcastle-Ottawa Scale for risk of bias assessment was conducted independently by two authors with mediation by a third. We report pooled unadjusted odds ratios (OR) or mean differences (MD) with 95% confidence intervals (95CI) from random (I2>50%) or fixed (I2<50%) effects meta-analyses. Outcomes of interest included offspring autism, attention deficit/hyperactive disorder, intellectual disability, epilepsy, developmental disorder, intelligence, educational, and adulthood socioeconomic outcomes. RESULTS: Of 10,928 articles identified, we included 21 in meta-analyses. OWWE had increased odds of autism (2 articles, 4,502,098 offspring) OR [95CI] 1·67 [1·54, 1·82], attention-deficit/hyperactivity disorder (3 articles, 957,581 offspring) 1·59 [1·44, 1·76], intellectual disability (2 articles, 4,501,786 children) 2·37 [2·13, 2·65], having special educational needs (3 articles, 1,308,919 children) 2·60 [1·07, 6·34]. OWWE had worse mean scores for full-scale intelligence (5 articles, 989 children) -6·05 [-10·31, -1·79]. No studies were identified that investigated adulthood socioeconomic outcomes. CONCLUSIONS: Increased odds of poor outcomes are higher with greater anti-seizure medication burden including neurodevelopmental and educational outcomes. In fact, these two outcomes seem to be worse in OWWE compared to OWWoE, even if there was no ASM exposure during pregnancy, but further work is needed to take into account potential confounding factors.

Two-year neurodevelopmental outcome in extremely preterm-born children: The Austrian Preterm Outcome Study Group.

AIM: The current study determined the neurodevelopmental outcome of extremely preterm infants at 2 years of age. METHODS: All live-born infants 23-27 weeks of gestation born between 2011 and 2020 in Austria were included in a prospective registry. Neurodevelopmental outcome at 2 years of corrected age was assessed using Bayley Scales of Infant Development for both motor and cognitive scores, along with a neurological examination and an assessment of neurosensory function. RESULTS: 2378 out of 2905 (81.9%) live-born infants survived to 2 years of corrected age. Follow-up data were available for 1488 children (62.6%). Overall, 43.0% had no, 35.0% mild and 22.0% moderate-to-severe impairment. The percentage of children with moderate-to-severe neurodevelopmental impairment decreased with increasing gestational age and was 31.4%, 30.5%, 23.3%, 19.0% and 16.5% at 23, 24, 25, 26 and 27 weeks gestational age (p < 0.001). Results did not change over the 10-year period. In multivariate analysis, neonatal complications as well as male sex were significantly associated with an increased risk of neurodevelopmental impairment. CONCLUSION: In this cohort study, a 22.0% rate of moderate-to-severe neurodevelopmental impairment was observed among children born extremely preterm. This national data is important for both counselling parents and guiding the allocation of health resources.

Hypertensive disorders of pregnancy, neonatal outcomes and offspring developmental delay in Japan: The Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study.

INTRODUCTION: Developmental delay at an early age indicates the probability of continued problems after school age. Hypertensive disorders of pregnancy (HDP) are associated with developmental delays in offspring, with inconsistent outcomes. Neonatal outcomes vary according to HDP exposure and are relevant to development in later years. Here we aimed to clarify the relationship between HDP and developmental delay in offspring and whether neonatal outcomes mediate this association. MATERIAL AND METHODS: We used data from 5934 mother-child pairs from the Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study, a prospective cohort study conducted in Japan between July 2013 and March 2017. The Ages and Stages Questionnaires, third edition, at 24 and 42 months of age, measured developmental delay in five areas. We performed multivariate quasi-Poisson regression and causal mediation analysis by neonatal outcomes. RESULTS: At 24 months of age, compared to offspring born from normotensive mothers, offspring born from HDP-affected mothers were more likely to experience developmental delay (risk ratio [RR] 1.29, 95% confidence interval [CI]: 1.09-1.52) in the areas of communication (RR 1.21, 95% CI: 1.00-1.45) and personal-social (RR 1.15, 95% CI: 1.03-1.28). This association was mediated by neonatal outcomes: preterm birth, neonatal asphyxia, NICU admission, and neonatal small head circumference. No association was observed between HDP and developmental delay at 42 months of age. CONCLUSIONS: Exposure to HDP during fetal life is associated with offspring developmental delay. This association is partly mediated by neonatal outcomes.

Developing and Implementing a Web-Based Branching Logic Survey to Support Psychiatric Crisis Evaluations of Individuals With Developmental Disabilities: Qualitative Study and Evaluation of Validity.

BACKGROUND: Individuals with developmental disabilities (DD) experience increased rates of emotional and behavioral crises that necessitate assessment and intervention. Psychiatric disorders can contribute to crises; however, screening measures developed for the general population are inadequate for those with DD. Medical conditions can exacerbate crises and merit evaluation. Screening tools using checklist formats, even when designed for DD, are too limited in depth and scope for crisis assessments. The Sources of Distress survey implements a web-based branching logic format to screen for common psychiatric and medical conditions experienced by individuals with DD by querying caregiver knowledge and observations. OBJECTIVE: This paper aims to (1) describe the initial survey development, (2) report on focus group and expert review processes and findings, and (3) present results from the survey's clinical implementation and evaluation of validity. METHODS: Sources of Distress was reviewed by focus groups and clinical experts; this feedback informed survey revisions. The survey was subsequently implemented in clinical settings to augment providers' psychiatric and medical history taking. Informal and formal consults followed the completion of Sources of Distress for a subset of individuals. A records review was performed to identify working diagnoses established during these consults. RESULTS: Focus group members (n=17) expressed positive feedback overall about the survey's content and provided specific recommendations to add categories and items. The survey was completed for 231 individuals with DD in the clinical setting (n=161, 69.7% men and boys; mean age 17.7, SD 10.3; range 2-65 years). Consults were performed for 149 individuals (n=102, 68.5% men and boys; mean age 18.9, SD 10.9 years), generating working diagnoses to compare survey screening results. Sources of Distress accuracy rates were 91% (95% CI 85%-95%) for posttraumatic stress disorder, 87% (95% CI 81%-92%) for anxiety, 87% (95% CI 81%-92%) for episodic expansive mood and bipolar disorder, 82% (95% CI 75%-87%) for psychotic disorder, 79% (95% CI 71%-85%) for unipolar depression, and 76% (95% CI 69%-82%) for attention-deficit/hyperactivity disorder. While no specific survey items or screening algorithm existed for unspecified mood disorder and disruptive mood dysregulation disorder, these conditions were caregiver-reported and working diagnoses for 11.7% (27/231) and 16.8% (25/149) of individuals, respectively. CONCLUSIONS: Caregivers described Sources of Distress as an acceptable tool for sharing their knowledge and insights about individuals with DD who present in crisis. As a screening tool, this survey demonstrates good accuracy. However, better differentiation among mood disorders is needed, including the addition of items and screening algorithm for unspecified mood disorder and disruptive mood dysregulation disorder. Additional validation efforts are necessary to include a more geographically diverse population and reevaluate mood disorder differentiation. Future study is merited to investigate the survey's impact on the psychiatric and medical management of distress in individuals with DD.

Strategies for addressing the needs of children with or at risk of developmental disabilities in early childhood by 2030: a systematic umbrella review.

BACKGROUND: There are over 53million children worldwide under five with developmental disabilities who require effective interventions to support their health and well-being. However, challenges in delivering interventions persist due to various barriers, particularly in low-income and middle-income countries. METHODS: We conducted a global systematic umbrella review to assess the evidence on prevention, early detection and rehabilitation interventions for child functioning outcomes related to developmental disabilities in children under 5 years. We focused on prevalent disabilities worldwide and identified evidence-based interventions. We searched Medline, Embase, PsychINFO, and Cochrane Library for relevant literature from 1st January 2013 to 14th April 2023. A narrative synthesis approach was used to summarise the findings of the included meta-analyses. The results were presented descriptively, including study characteristics, interventions assessed, and outcomes reported. Further, as part of a secondary analysis, we presented the global prevalence of each disability in 2019 from the Global Burden of Disease study, identified the regions with the highest burden and the top ten affected countries. This study is registered with PROSPERO, number CRD42023420099. RESULTS: We included 18 reviews from 883 citations, which included 1,273,444 children under five with or at risk of developmental disabilities from 251 studies across 30 countries. The conditions with adequate data were cerebral palsy, hearing loss, cognitive impairment, autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder. ASD was the most prevalent target disability (n = 8 reviews, 44%). Most reviews (n = 12, 67%) evaluated early interventions to support behavioural functioning and motor impairment. Only 33% (n = 10/30) of studies in the reviews were from middle-income countries, with no studies from low-income countries. Regarding quality, half of reviews were scored as high confidence (n = 9/18, 50%), seven as moderate (39%) and two (11%) as low. CONCLUSIONS: We identified geographical and disability-related inequities. There is a lack of evidence from outside high-income settings. The study underscores gaps in evidence concerning prevention, identification and intervention, revealing a stark mismatch between the available evidence base and the regions experiencing the highest prevalence rates of developmental disabilities.

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.

Similar early intervention referral rates following in-person administration of the Bayley Scales of Infant and Toddler Development, 4th Edition versus Telehealth Administration of the Developmental Assessment in Young Children, 2nd Edition in the high-risk infant population.

BACKGROUND: Infants with prematurity, low birthweight, and medical comorbidities are at high risk for developmental delays and neurodevelopmental disabilities and require close monitoring. Due to the COVID-19 pandemic, high-risk infant follow-up (HRIF) programs have adapted to perform developmental assessments via telehealth. OBJECTIVES: Describe the referral rates to initiate, continue, or increase/add early intervention (EI) therapies based on in-person use of the Bayley Scales of Infant and Toddler Development, 4th Edition (BSID-IV) or telehealth use of the Developmental Assessment in Young Children, 2nd Edition (DAYC-2). METHODS: A retrospective chart review was conducted on 203 patients seen in the HRIF program at an academic medical center in Southern California. Patients were divided into in-person (BSID-IV) and telehealth (DAYC-2) assessment groups. Statistical analyses were performed to describe demographic characteristics, medical information, and referral rates for EI therapies by the types of visits. RESULTS: The in-person and telehealth groups demonstrated similar demographic and clinical characteristics and comparable referral rates for initiating EI therapies. Telehealth patients already receiving therapies were recommended to increase/add EI therapies at a higher rate compared to in-person patients. CONCLUSIONS: The BSID-IV is widely used to assess for developmental delays in the high-risk infant population, but in-person administration of this tool poses limitations on its accessibility. Telehealth administration of an alternative tool, such as the DAYC-2, can lead to similar EI referral rates as in-person administration of the BSID-IV. Increased use of telehealth developmental assessments can promote timely detection of developmental delays and minimize gaps in healthcare access.

Long-Term Effect of Having a Child at Risk of Developmental Delays on Parental Labor Force Participation.

OBJECTIVE: This study aimed to examine the long-term influence of having a child at risk of different developmental delays (communication, mobility, self-care, relating, learning, coping, or behaving) on parental labor force participation as the child grows. METHOD: A retrospective cohort was conducted using data from the Longitudinal Study of Australian Children survey, Waves 1-8 covering birth to 15 years of age of children. Multivariable logistic regressions were used to explore the odds ratio of mothers being out of the labor force at different children's ages. Cox proportional hazards models were utilized to identify the 'risk' of mothers returning to the workforce after leaving. All models were adjusted for the mother's age, education attainment, and employment status at time of birth, as well as marital status at the current wave. RESULTS: There were 5,107 records of children, and 266 of them were at risk of any developmental delays at age 4-5 years. This sample represents 243, 026 children born in Australia in 2003/04. After adjusting for potential confounders, mothers of children at risk of each type of developmental delay (except mobility and self-care) had greater odds of being out of, and not returning to the labor force from children aged 2-3 to 14-15 years, when compared to mothers of children who are not at risk of developmental delays. Similar differences were found for fathers but were distinctly small and with narrower fluctuations, compared to mothers. CONCLUSION: Policies and programs funded by the government are greatly needed to support the mothers of children at risk of developmental delays.

A 9-year retrospective cohort study of the monitoring and screening of childhood developmental delay in Thailand.

BACKGROUND: Developmental delay in early childhood can have negative long-term cognitive and psychiatric sequelae, along with poor academic achievement, so early screening and surveillance are paramount. The aim of this study is to evaluate the impact of screening and surveillance on child developmental delay using the Developmental Surveillance and Promotion Manual (DSPM) and the Thai Early Developmental Assessment for Intervention (TEDA4I) for Thai children aged 0-5 years old. METHODS: Data were obtained from the routine developmental screening for specific disorders at ages 9, 18, 30, 42 and 60 months conducted using DSPM and TEDA4I from 2013 to 2021. Descriptive statistics were used to analyse the data, and the results are visualised graphically herein. RESULTS: Only 56% of the children were screened for child developmental delay using DSPM. The proportion of children screened increased from <1% in 2013 to 90% in 2021. Suspected developmental delay prevalence increased significantly from 3.91% in 2013-2015 to 10.00% in 2016-2018 and 26.48% in 2019-2021. Moreover, of the children with suspected developmental delay who received developmental stimulation within a month, only 87.9% returned for follow-up visits when they were evaluated again using TEDA4I to ascertain any abnormalities and specific areas of deficit. The overall proportion of children diagnosed with developmental delay was 1.29%. During the pandemic, the proportion of screening tests for child developmental delay at routine vaccination visits and follow-ups decreased but was still at least 80% in each region. CONCLUSIONS: Since 1%-3% of children have suspected developmental delay, early detection is key to treating it as soon as possible. We anticipate that our findings will raise awareness in parents and caregivers about childhood developmental delay and lead to the implementation of early intervention and follow-up at the rural level in Thailand.

Foster Care Involvement Among Youth With Intellectual and Developmental Disabilities.

Importance: Youth with intellectual and developmental disabilities (I/DD) are more likely to be placed in foster care than other youth. Examining the clinical and sociodemographic characteristics of youth with I/DD in the foster care system is critical for identifying disparities and understanding service needs. Objective: To produce a population-level analysis of youth with I/DD in foster care that examines differences in rates of foster care involvement based on race, ethnicity, age, and sex. Design, Setting, and Participants: This cross-sectional study involved all individuals with I/DD 21 years and younger enrolled in Medicaid through foster care in 2016 via data from Transformed Medicaid Statistical Information System (T-MSIS) Analytic Files (TAF) for all 50 US states and Washington, DC. As a key insurer of I/DD services and foster care, Medicaid claims offer a timely population-level analysis. Youth with I/DD were grouped into diagnostic subgroups: autism spectrum disorder (ASD) only, intellectual disability only, or ASD and ID. The data analysis took place from July 2022 to September 2023. Exposure: TAF data contain Medicaid enrollment information by month with a binary indicator of foster care involvement, and eligibility files identify race, ethnicity, age, and sex. Main Outcomes and Measures: The period prevalence of foster care involvement was determined among I/DD youth by diagnostic subgroups using an intersectional approach across race, ethnicity, age, and sex. Logistic regression examined associations between risk for foster care involvement and race, ethnicity, age, and sex. Results: A total of 39 143 youth with I/DD had foster care involvement in 2016. Black youth (adjusted odds ratio [aOR], 1.37; 95% CI, 1.28-1.47) and females (aOR, 1.18; 95% CI, 1.1-1.27) had increased likelihood for foster care involvement. The likelihood for foster care involvement increased with age in all groups relative to the age group 0 to 5 years old. Conclusions and Relevance: This study found that among youth with I/DD, Black youth and females faced higher risk for foster care involvement, and the likelihood of foster care involvement increased with age. There is an urgent need for research that focuses on addressing system-level factors that drive increased risk. Understanding the specific health needs of Black and female youth with I/DD is critical to ensure the formation, implementation, and monitoring of equitable delivery of health services.