Developmental Milestones Research Articles

Factors of Failure to Exclusively Breastfeed In the BLUD UPTD Working Area of the Kandai Public Health Center of Kendari City

Background: Mother's milk (ASI) is a baby's need which is very necessary for the baby's growth and development. However, if exclusive breastfeeding is not provided, it can cause problems with the baby's growth and development Methods: This type of research is quantitative research using a cross-sectional study design, where the type of research emphasizes measuring/observing the independent and dependent variables only once at a time. This research involved 90 respondents. Results: In this study, the results showed that there was no relationship between working mothers and failure to provide exclusive breastfeeding in the Kandai Community Health Center working area with a Fisher's Exact Test value = 0.450 > 0.05. There is a relationship between social support and failure to provide exclusive breastfeeding in the Kandai Health Center working area with a calculated X2 value > X2 table. and there is a relationship between the promotion of formula milk and failure to provide exclusive breastfeeding in the Kandai public Health Center working area, the value of X2 calculated > X2 table. Conclusions: Promotion of formula milk, social support and no relationship between working mothers and the failure of exclusive breastfeeding in the Kandai Health Center working area. So it is necessary to pay attention to mothers who have babies <6 months to be able to provide exclusive milk to maintain the baby's growth and development well.

Nurturing early learners in the digital world: A parental perspective

In today’s contemporary society, parents need to prudently integrate digital devices into their children’s lives to nurture, and not hinder their holistic development. Normatively, a four- to six-year-old child is expected to achieve numerous developmental milestones, as outlined in the nurturing early learners (NEL) framework. The NEL framework classifies these milestones under various learning domains, skills and competencies, namely Aesthetics and Creative Expression, Discovery of the World, Language and Literacy, Motor Skills Development, Numeracy, and Social and Emotional Development. Through qualitative interviews conducted with 21 parents (14 mothers and 7 fathers) online who spoke about their four- to six-year-old children, this study investigated how parents wielded digital devices to foster their children’s development in these key domains, but deliberately ring-fenced their children from pernicious use.

Advanced strategies for cognitive and emotional coping among high school students

Adolescence represents a pivotal stage in human development marked by numerous challenges and stressors. This research delves into the cognitive-emotional coping strategies deployed by adolescent girls and boys, with a particular focus on gender disparities. Our study aligns with prior research, affirming substantial gender-based distinctions in coping strategies. Adolescent girls predominantly employ maladaptive strategies, notably catastrophizing and rumination, underscoring a proclivity for negative thought patterns amidst stressors. Conversely, boys demonstrate a more equitable distribution of coping mechanisms, encompassing both maladaptive and adaptive strategies, implying heightened coping versatility. Engaging in a scholarly debate, we discuss the implications of this gender divergence in coping strategies. While diverse coping repertoires, as seen in boys, may contribute to resilience, the noteworthy prevalence of maladaptive strategies among adolescents, regardless of gender, raises concerns regarding emotional well-being. This study not only advances our comprehension of adolescent coping but also holds implications for mental health interventions.

PENGARUH BRAIN EXERCISE TERHADAP KEMAMPUAN KOGNITIF PADA LANSIA DI WILAYAH KERJA PUSKESMAS BANGGAE 1 KABUPATEN MAJENE

Abstrack The final stage of human development is old age, where many changes occur, including significant physical, cognitive, psychological, and social changes experienced by elderly people over 60 years old. Brain exercise is a non-pharmacological technique to improve cognitive function. Brain exercise is a method to improve cognitive function in the elderly so that it can affect better cognitive function. The aim of this study was to determine the effect of brain exercise on cognitive abilities in the elderly. The type of research used in this research is quasi-experimental, using a pre- and post-test approach without control. The number of samples from 31 respondents was selected by sampling technique, namely accidental sampling. Data analysis using univariate and bivariate results of the Wilcoxon Test found that the p-value was 0.007 (p <0.05). The conclusion is that there is a significant effect of brain exercise on cognitive abilities in the elderly in the working area of the Banggae 1 Health Center, Majene Regency. Keywords: Elderly, Cognitive Function, Brain Exercise

Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy

ObjectiveMetachromatic leukodystrophy (MLD) is a rare neurodegenerative disorder. Emerging therapies are most effective in the presymptomatic phase, and thus defining this window is critical. We hypothesize that early development delay may precede developmental plateau. With the advent of presymptomatic screening platforms and transformative therapies, it is essential to define the onset of neurologic disease. MethodsThe specific ages of gain and loss of developmental milestones were captured from the medical records of individuals affected by MLD. Milestone acquisition was characterized as: on target (obtained before the age limit of 90th percentile plus 2 standard deviations compared to a normative dataset), delayed (obtained after 90th percentile plus 2 standard deviations), or plateau (skills never gained). Regression was defined as the age at which skills were lost. LI-MLD was defined by age at onset before 2.5 years. ResultsAcross an international cohort, 351 subjects were included (n = 194 LI-MLD subcohort). The median age at presentation of the LI-MLD cohort was 1.4 years (25th–75th %ile: 1.0–1.5). Within the LI-MLD cohort, 75/194 (39%) had developmental delay (or plateau) prior to MLD clinical presentation. Among the LI-MLD cohort with a minimum of 1.5 years of follow-up (n = 187), 73 (39.0%) subjects never attained independent ambulation. Within LI-MLD + delay subcohort, the median time between first missed milestone target to MLD decline was 0.60 years (maximum distance from delay to onset: 1.9 years). InterpretationEarly developmental delay precedes regression in a subset of children affected by LI-MLD, defining the onset of neurologic dysfunction earlier than previously appreciated. The use of realworld data prior to diagnosis revealed an early deviation from typical development. Close monitoring for early developmental delay in presymptomatic individuals may help in earlier diagnosis with important consequences for treatment decisions.

Advancements, Dynamics, and Future Directions in Rural Environmental Governance Research in China

Rural environmental governance serves as the foundational pillar of national governance, intricately linked to the modernization of agriculture and rural areas, as well as the cultivation of rural culture. Furthermore, it plays a pivotal role in fostering industrial prosperity, ensuring effective governance, and elevating living standards. This study employs a range of sophisticated software tools, including VOSviewer, Bibliometrix, and ArcGIS, among others, to analyze and construct a comprehensive knowledge map encompassing 3370 research articles focused on rural environmental governance, sourced from the CNKI (China National Knowledge Infrastructure) and WOS (Web of Science) databases. This analytical endeavor delves into research themes, key areas of interest, developmental milestones, and emerging trends within the realm of rural environmental governance, thereby shedding light on the overarching trajectory of research endeavors in this domain within China. The findings reveal distinct phases in the evolution of research trends in the Chinese rural environmental governance literature, encompassing four distinct epochs: a period of sluggish growth (2002–2009), a phase of accelerated expansion (2009–2014), a span marked by stable and rapid advancement (2014–2021), and a recent period characterized by fluctuating decline (2021–2022). Moreover, the analysis highlights a burgeoning diversity in the distribution of relevant research disciplines. However, it is noteworthy that there exists a scarcity of highly prolific authors, and the formation of cohesive research teams has encountered challenges, underscoring significant deficiencies in research collaboration and academic discourse. As a prospective direction, future research should be tailored to the unique natural resources and socio-human characteristics intrinsic to different regions. It should also emphasize interdisciplinary and multidisciplinary investigations, with a focal point on economically disadvantaged regions situated in the central and western parts of the nation. Such an approach aims to bolster the overall caliber of domestic research endeavors in the field of rural environmental governance.

What matters in good health status of 1-year-old children? - A cross-sectional study of the perinatal factors.

A healthy child can make way for a healthy adult. Some of the factors that can be used to determine the health of a young child are nutritional status of the child, the developmental milestones achieved, and frequency of illness. The health status of children and associated factors are determined. This is a community-based cross-sectional study with 271 participants. The height and weight of the child were measured; questions were asked regarding developmental milestones achieved and frequent illnesses. An interview schedule was used to enquire about the determinants of health status. Descriptive statistics were done; Chi-square test and regression were used to determine association between the health status of children and determinants. A total of 127 (46.86%) were found to have a good health status. Family type (Chi square value 9.568; P value = 0.002), birth spacing (Chi square 20.540; P value < 0.001), term or pre-term birth (Chi square 4.598; P value = 0.032), chronic medical problem in the child (Chi square 11.074; P value = 0.001), and immunization status of the child (Chi square 5.666; P value = 0.017) were found to have significant association with the health status of the child. By logistic regression, pre-term child birth and family type were found to have higher odds. For better health of the child, specific focus on birth spacing, term birth of baby, better care of the ill, and complete immunization play vital roles.

Data-driven mathematical modeling of sleep consolidation in early childhood

Across early childhood development, sleep behavior transitions from a biphasic pattern (a daytime nap and nighttime sleep) to a monophasic pattern (only nighttime sleep). The transition to consolidated nighttime sleep, which occurs in most children between 2- and 5-years-old, is a major developmental milestone and reflects interactions between the developing homeostatic sleep drive and circadian system. Using a physiologically-based mathematical model of the sleep-wake regulatory network constrained by observational and experimental data from preschool-aged participants, we analyze how developmentally-mediated changes in the homeostatic sleep drive may contribute to the transition from napping to non-napping sleep patterns. We establish baseline behavior by identifying parameter sets that model typical 2-year-old napping behavior and 5-year-old non-napping behavior. Then we vary six model parameters associated with the dynamics of and sensitivity to the homeostatic sleep drive between the 2-year-old and 5-year-old parameter values to induce the transition from biphasic to monophasic sleep. We analyze the individual contributions of these parameters to sleep patterning by independently varying their age-dependent developmental trajectories. Parameters vary according to distinct evolution curves and produce bifurcation sequences representing various ages of transition onset, transition durations, and transitional sleep patterns. Finally, we consider the ability of napping and non-napping light schedules to reinforce napping or promote a transition to consolidated sleep, respectively. These modeling results provide insight into the role of the homeostatic sleep drive in promoting interindividual variability in developmentally-mediated transitions in sleep behavior and lay foundations for the identification of light- or behavior-based interventions that promote healthy sleep consolidation in early childhood.

“If I use pad, I feel comfortable and safe”: a mixed-method analysis of knowledge, attitude, and practice of menstrual hygiene management among in-school adolescent girls in a Nigerian city

BackgroundAdolescence is a pivotal stage in human development that presents unique challenges, especially for girls navigating the complexities of menstruation. Despite the importance of menstrual hygiene management for adolescent girls’ well-being, this vital aspect of personal health is often overlooked, particularly in regions where cultural stigma prevails. This study examines knowledge, attitude, and practice of menstrual hygiene management among in-school adolescent girls in Abuja, Nigeria.MethodsThe study employed a cross-sectional mixed-method design, integrating quantitative surveys with focus group discussions. A survey was conducted among 420 adolescent girls across four government junior secondary schools through a multistage sampling technique. Also, Focus Group Discussions were conducted among 80 respondents in groups of 10 discussants. The quantitative data set was subjected to descriptive and inferential statistical analysis, while the qualitative data were analysed using content analysis.ResultsFindings revealed that the majority (53.45%) of the respondents had good knowledge of menstruation and menstrual hygiene management. Junior Secondary School (JSS) 3 students [OR = 2,09; 95% CI = 1.24–3.52] and those who started menstruation at age 15 years and above [OR = 7.52; 95% CI = 1.43–39.49] were associated with increased odds of having good knowledge of menstrual hygiene management. The attitude of most respondents (70.08%) towards menstrual hygiene management was good. Those in the JSS 3 class [OR = 6.47; 95% CI = 3.34–12.54], respondents who are Muslim [OR = 2.29; 95% CI = 1.63–5.48], and those whose parents had tertiary education [OR = 3.58; 95% CI = 1.25–10.25] were more likely to demonstrate more positive attitudes compared to their counterparts whose parents do not have tertiary education. In relation to practice, about 3 in 5 (57.80%) reportedly practise good menstrual hygiene management. Respondents who practice traditional religion [OR = 0.33; 95% CI = 0.02–4.56] were less likely to practise good menstrual hygiene management, while respondents who are the third child of their parents [OR = 2.09; 95% CI = 1.04–4.23] were more likely to practise menstrual hygiene compared to respondents with other birth orders. Qualitative results showed that participants had good knowledge of menstruation and menstrual hygiene management, and mothers were the main source of menstruation-related information. Participants had mixed feelings and reactions during their first menstruation, with 3 in 5 participants reporting experiencing menstruation-related stigma restrictions when menstruating.ConclusionsIn-school adolescent girls in Abuja, Nigeria, have good menstruation-related knowledge and positive attitudes, as well as practise menstrual hygiene management. Students’ class and age at first menstruation were major factors associated with good knowledge of menstruation and menstrual hygiene management; respondents’ class, religion and parents’ educational qualification were associated with a positive attitude, while respondents’ religion and parity line were associated with menstrual hygiene practice. Future interventions should focus on conducting school and community-level awareness programs to increase knowledge and dispel myths and misconceptions about menstruation and menstrual hygiene management.

Adaptation of SafeCare, an evidence-based parenting program, for caregivers of infants in the neonatal intensive care unit

BackgroundWhile there are several parenting programs for NICU caregivers, no studies, to our knowledge, have developed parenting programs aimed at preventing child maltreatment that specifically address these parental factors: parental stress, parental self-efficacy, and positive parent-infant interaction. ObjectivesThe objectives of this study were to: 1) Identify adaptations and/or augmentations needed to optimize SafeCare® for NICU caregivers, and 2) Examine the acceptability and preliminary effects of the adapted SafeCare NICU (SCNC) program with NICU caregivers. MethodsThis study consisted of two phases: formative (phase one) and pilot (phase two). For phase one, 5 NICU former caregivers and 5 NICU staff were interviewed to make relevant, NICU-specific adaptations for SCNC. Phase two consisted of a pilot study, where 13 current NICU caregivers were enrolled in the adapted SCNC program. Outcomes included acceptability and preliminary effects of parental stress, parental self-efficacy, and parent-infant interaction. ResultsAdaptations to SafeCare consisted of adding a pre-session to discuss individualized experiences, incorporation of adjusted developmental milestones, a NICU-specific resource sheet, and individualized adaptations to activities based on relevant medical concerns. Out of the 13 participants, 8 completed SCNC (61.5 % retention rate). Participants indicated significant reductions in stress after SCNC (Parental stress index score = 61.7) compared to baseline (79.2, p = 0.02). Among participants who completed SCNC (n = 8), all stated they supported this program for implementation among NICU caregivers. DiscussionThe adapted SCNC demonstrated acceptability among NICU caregivers.

Early developmental milestone clusters of autistic children based on electronic health records.

Autistic children vary in symptoms, co-morbidities, and response to interventions. This study aimed to identify clusters of autistic children with a distinct pattern of attaining early developmental milestones (EDMs). The clustering of 5836 autistic children was based on the attainment of 43 gross motor, fine motor, language, and social developmental milestones during the first 3 years of life as recorded in baby wellness visits. K-means cluster analysis detected four EDM clusters: mild (n = 1686); moderate (n = 1691); severe (n = 2265); and global (n = 194). The most prominent cluster differences were in the language domain. The global cluster showed earlier and greater developmental delay across domains, unique early gross motor delays, and more were born preterm via cesarean section. The severe cluster had poor language development prominently in the second year of life, and later fine motor delays. Moderate cluster had mainly language delays in the third year of life. The mild cluster mostly passed milestones. EDM clusters differed demographically, with higher socioeconomic status in mild cluster and lowest in global cluster. However, the severe cluster had more immigrant and non-Jewish mothers followed by the moderate cluster. The rates of parental concerns and provider developmental referrals were significantly higher in the global, followed by the severe, moderate, and mild EDM clusters. Autistic children's language and motor delay in the first 3 years can be grouped by common magnitude and onset profiles as distinct groups that may link to specific etiologies (like prematurity or genetics) and specific intervention programs. Early autism screening should be tailored to these different developmental profiles.

Планирование экономического присутствия России в Арктике

Global warming is the most important trend shaping the development of the Arctic, influencing international relations and economic landscapes under new geopolitical conditions. Currently, the Arctic is opening up for the development of natural resources, primarily energy, and the construction of new transportation networks. These developments form the basis for the Arctic's integration within Russia's maritime framework. The evolving geopolitical positioning of the Arctic underscores the importance of diverse scientific research, guiding its goals and directions. Russia’s economic presence in the Arctic is a key component of strategic planning for the periods 2024–2030 and until 2035. This presence is directly influenced by the dynamics of Arctic ice formation and melting, as well as the achievement of development milestones for the Northern Sea Route (NSR). This article addresses a practical question: to what extent is global warming a permanent factor in enabling year-round navigation along the NSR to support sustainable maritime business activities in the region? The 2022 Maritime Doctrine positions Russia as a leading maritime power, with the Arctic playing a central role in national maritime activities, as this is the region where the country's maritime strengths are most clearly visible. The effectiveness of maritime business activities in the Arctic is reflected in the increasing cargo turnover along the NSR, driven by domestic investments, primarily in energy projects. These activities are shaped by the cyclical fluctuations in Arctic ice formation and melting, defining navigation along the NSR in the current geopolitical and economic context.

Differences in manifestations of epilepsy and developmental delay in PURA syndrome and 5q31 microdeletions.

PURA is mapped to chromosome 5q31 and plays a vital role in neuronal development and synapse formation. Here, we aim to explore PURA's impact on cognitive development and epilepsy phenotype by comparing patients with single nucleotide variants (SNPs) in the PURA gene (PURA-SNP patients) to those with 5q31 microdeletions including PURA (5q31del + PURA) and those with 5q31 microdeletions not including the PURA gene (5q31del-PURA). A systematic literature search was conducted in PubMed. Two separate searches were performed in order to find patients with PURA SNPs and 5q31 microdeletions. This review includes data from 191 patients collected from a total of 18 articles; 174 of the patients had PURA SNPs, 13 had 5q31 microdeletions involving the PURA gene, and 4 had 5q31 microdeletions without PURA gene implication. All patients exhibited hypotonia, feeding difficulties and dysmorphic features, however epilepsy was primarily present in patients with PURA syndrome, that is, groups PURA-SNP and 5q31del + PURA. Regarding the developmental milestones the 5q31del + PURA group stood out as being the most severe, while the 5q31del-PURA group showed a relatively mild phenotype. Our findings support the hypothesis of PURA being the key contributor of developmental delay and epilepsy among patients with PURA syndrome.

NFS-29. DEVELOPMENTAL SCREENING AND MONITORING IN NEUROFIBROMATOSIS-1

Abstract BACKGROUND Pilot data showed developmental screening at Neurofibromatosis-1 (NF1) appointments is feasible to identify those needing neuropsychology or other referrals. Outcomes for this larger sample, many re-screened and/or seen for a neuropsychology visit, allow us to describe evolving clinical management. METHODS Screenings are offered annually (ages 2-17) at NF1 clinic appointments by the psychosocial team. Forty-eight early childhood patients (ages 2-5) were screened (54% male, 66.7% White,) while 35 were ineligible (e.g., recent neuropsychology visit) or experienced logistical barriers to screening. These groups did not differ in race/ethnicity, sex, glioma status, or childhood opportunity index. Parents completed well-validated measures including the PEDS: Developmental Milestones – Assessment Level (PEDS:DM), Modified Checklist for Autism in Toddlers, and/or an ADHD Rating for preschoolers. RESULTS On initial screens, 73.9% showed a delay of 25% or more on at least one PEDS:DM domain. Measures often aligned with clinical impressions (81.3%); however, when findings were contextualized with record review, there were false positives (8.3%) and negatives (10.4%). Screening identified emerging concerns in attention, fine-motor, and academic skills. Nearly half (47.9%) of patients had services at the time of screening, and new/modified recommendations were offered for 70.8%. One third were referred to our Education Coordinator or Social Worker for educational advocacy, support through Early Intervention/school evaluation, or outpatient referrals. Twenty-two (45.8%) were referred to Neuropsychology and 18 have now been seen (consultation, targeted testing, or comprehensive evaluation) to confirm or rule-out neurodevelopmental diagnoses (e.g., autism, ADHD, language or global delay) and further guide educational or intervention management. Follow-up screens (N = 21) have monitored developmental progress, previously subclinical symptoms rising to a significant level, and need for re-evaluation or additional services. CONCLUSIONS Multipronged systematic screening results in referrals for diagnostic clarity, guides transition from Early Intervention to school services, and supports dynamic management of changing concerns.

Efektivitas Terapi Storytelling untuk Mengurangi Tingkat Agresi pada Anak TK Aisyiyah VI Padang

This study explores aggression behavior in early childhood and the effectiveness of storytelling in reducing it using quantitative methods. Data were collected through observation and questionnaires at Aisyiyah VI Kindergarten in Padang, with data analysis using JASP 0.16.4.0. Aggression, defined as behavior aimed at causing harm, is increasingly common among children in Indonesia and can be both physical and verbal. Storytelling was studied as a potential intervention, with evidence showing improved social behavior and decreased aggressiveness. The technique involves using stories that are appropriate to the child's developmental stage and allows them to learn through the example of the characters in the story. The implementation process includes needs analysis, theme determination, story creation and delivery. The results show storytelling is effective in reducing aggressive behavior in early childhood. This study highlights the important role of parents and teachers in supporting children's social development through a comprehensive educational approach.

HGG-35. SIGNIFICANT RESPONSE TO LAROTRECTINIB AS FIRST LINE THERAPY IN INFANT WITH INFANT-TYPE HEMISPHERIC GLIOMA

Abstract BACKGROUND Infant-type hemispheric gliomas represent a recent WHO classification of high grade pediatric brain tumors that are often characterized by NTRK, ROS1, MET or ALK fusions. Novel agents may target their driver mutations but are not yet considered front line therapy. METHODS Patient data was reviewed retrospectively through chart review. RESULTS A 7 day old male infant who presented with vomiting, shaking and a full fontanelle was found to have a 8.7 x 7.2 x 9.3 cm solid and cystic mass with internal hemorrhage in the right parietal and occipital lobes associated with significant mass effect and midline shift. He underwent VP shunt placement and tumor biopsy, but later developed seizures and declining mental status. Cyst decompression was used as stabilizing measure. Due to his very small size and tenuous clinical status full tumor resection was not feasible at that time. Pathology revealed an infant-type hemispheric glioma with ETV6-NTRK3 fusion. Although cytogenetic testing for NTRK alterations was negative, the fusion was confirmed by NGS. Given his age and the risks for electrolyte imbalances and cytopenias in a patient with recent hemorrhage, we elected to treat with Larotrectinib instead of traditional cytotoxic chemotherapy. He had notable disease response within 8 weeks and remains on drug 18 months later with continued response. His tumor now measures 2 x 1.5 x 1.6 cm. He has had one grade 3 toxicity with neutropenia, which was likely impacted by viral bone marrow suppression. He is currently meeting most developmental milestones but does have orthotics and sees speech therapy. CONCLUSIONS Targeted agents may represent a viable front line therapy to decrease tumor mass and temporize very young patients until they can undergo definitive resection and therapy. Future clinical trials will need to compare efficacy to current standards of care.

ETMR-31. A UNIQUE CASE OF CNS DIFFUSE, NON-SYSTEMIC ALK+ HISTIOCYTOSIS IN A PEDIATRIC PATIENT

Abstract BACKGROUND Histiocytic disorders are a group of rare diseases with accumulation of of macrophages, monocytes, or dendritic cells in various parts of the body. ALK-positive histiocytosis is a rare subtype of histiocytic neoplasm first described in 2008 that is very rarely described in pediatrics. METHODS A 20 month old male presented to an adult hospital after a prolonged period of headaches, vomiting, and loss of developmental milestones. Imaging demonstrated severe hydrocephalus and extensive thickened leptomeningeal enhacement with mass effect. He underwent VP shunt placement and revision, a T7-T10 laminectomy, and tumor debulking. Extensive molecular testing, including DNA and RNA analysis by NGS was performed and a CLTC::ALK fusion was identified, along with Tier III DNA variants, yielding a diagnosis consistent with ALK-Positive Histiocytosis, with diffusivity in the CNS system. Full evaluation demonstrated no involvement of the peripheral nervous system or other systemic involvement. He initially demonstrated signs of neuro-irritation, altered tone, and lower extremity clonus. RESULTS After review of very little literature published on similar patients, although none with a clinical picture matching his, he was started on a treatment course of high dose dexamethasone, vinblastine, and lorlatinib targeting the ALK+, likely driver, mutation of his disease. On evaluation scans two months into treatment, he showed no change in his disease burden. He was transitioned to clofarabine cycles with daily lorlatinib for continued targetted therapy. After six total cycles, he demonstrated a high partial to complete remission (allowing for evidence of scarred tissue) and tremendous neurologic and developmental milestone gains. CONCLUSIONS This case demonstrates a unique presentation in which there is little described in the literature in way of clinical features or treatment standards, and further none exactly similar to this patient. After undergoing extensive evaluation and therapy modication, he responded remarkably well and continues to have optimal quality of life.

Kindergarten readiness: associations with a summer transition program and teacher/school level factors

ABSTRACT Transition to kindergarten is an important developmental milestone for children and families. This study explored factors associated with kindergarten readiness focusing on the impact of a summer kindergarten transition program. A mixed-method design was employed, and the qualitative data from interviews with 16 randomly selected kindergarten teachers and the quantitative data of assessment scores of 320 kindergarteners were analyzed. Compared with children who were eligible but did not participate in the transition program, those who participated in the program had significantly more family engagement and stronger home-school relations. Smaller class sizes were associated with children’s higher readiness scores in both academic achievement and social-emotional development. Larger school enrollment was associated with children’s higher readiness scores in academic achievement, more family engagement, and stronger home-school relations. Higher school poverty was associated with children’s lower readiness scores in social-emotional development. The findings can be used to inform program development and policymaking.

Enhancing pediatric access to cell and gene therapies.

Increasing numbers of cell and gene therapies (CGTs) are emerging to treat and cure pediatric diseases. However, small market sizes limit the potential return on investment within the traditional biopharmaceutical drug development model, leading to a market failure. In this Perspective, we discuss major factors contributing to this failure, including high manufacturing costs, regulatory challenges, and licensing practices that do not incorporate pediatric development milestones, as well as potential solutions. We propose the creation of a new entity, the Pediatric Advanced Medicines Biotech, to lead late-stage development and commercialize pediatric CGTs outside the traditional biopharmaceutical model in the United States-where organized efforts to solve this problem have been lacking. The Pediatric Advanced Medicines Biotech would partner with the academic ecosystem, manufacture products in academic good manufacturing practice facilities and work closely with regulatory bodies, to ferry CGTs across the drug development 'valley of death' and, ultimately, increase access to lifesaving treatments for children in need.

Developmental milestones and daily living skills in individuals with Angelman syndrome

BackgroundAngelman syndrome (AS) is a neurodevelopmental disorder associated with severe global developmental delay. However, the ages at which different developmental skills are achieved in these individuals remain unclear. We seek to determine the probability and the age of acquisition of specific developmental milestones and daily living skills in individuals with AS across the different molecular subtypes, viz. class I deletion, class II deletion, uniparental disomy, imprinting defect, and UBE3A variants.MethodsCaregivers participating in a longitudinal multicenter Angelman Syndrome Natural History Study completed a questionnaire regarding the age at which their children achieved specific developmental milestones and daily living skills. The Cox Proportional Hazard model was applied to analyze differences in the probability of achievement of skills at various ages among five molecular subtypes of AS.ResultsAlmost all individuals, regardless of molecular subtype, were able to walk with support by five years of age. By age 15, those with a deletion had at least a 50% probability of acquiring 17 out of 30 skills compared to 25 out of 30 skills among those without a deletion. Overall, fine and gross motor skills such as holding and reaching for small objects, sitting, and walking with support were achieved within a fairly narrow range of ages, while toileting, feeding, and hygiene skills tend to have greater variability in the ages at which these skills were achieved. Those without a deletion had a higher probability (25–92%) of achieving daily living skills such as independently toileting and dressing compared to those with a deletion (0–13%). Across all molecular subtypes, there was a low probability of achieving independence in bathing and brushing teeth.ConclusionIndividuals with AS without a deletion are more likely to achieve developmental milestones and daily living skills at an earlier age than those with a deletion. Many individuals with AS are unable to achieve daily living skills necessary for independent self-care.