developmental milestones

Development is a chain reaction in which one event leads to another until the completion of a life cycle. Phase transitions are milestone events in the cycle of life. LEAFY COTYLEDON1 (LEC1), ABA INSENSITIVE3 (ABI3), FUSCA3 (FUS3), and LEC2 proteins, collectively known as LAFL, are master transcription factors (TFs) regulating seed and other developmental processes. Since the initial characterization of the LAFL genes (44, 71, 98-100), more than three decades of active research has generated tremendous amounts of knowledge about these TFs, whose roles in seed development and germination have been comprehensively reviewed (63, 43, 65, 81)...

BACKGROUND: At the beginning of 21st century, reclassification of fibrosing interstitial lung diseases (ILD) scored academic concerning, and then propelled development. Decade before, pifenidone and nintedanib were approved for idiopathic pulmonary fibrosis, but no more drugs are yet available. To evaluate the development traits of pirfenidone and nintedanib in fibrosing ILD, including the influential country, institution, authors, keywords, and the major problems or the priorities of the field emerge and evolve, bibliometric analysis was used to summarize and draw scientific knowledge maps...

The emergence of the pointing gesture is a major developmental milestone in human infancy. Pointing fosters preverbal communication and is key for language and theory of mind development. Little is known about its ontogenetic origins and whether its pathway is similar across different cultures. The goal of this study was to examine the theoretical proposal that social pointing is preceded by a non-social use of the index finger and later becomes a social-communicative gesture. Moreover, the study investigated to which extent the emergence of social pointing differs cross-culturally...

Machine vision and artificial intelligence hold promise across healthcare applications. In this paper, we focus on the emerging research direction of infant action recognition, and we specifically consider the task of reaching which is an important developmental milestone. We develop E-babyNet, a lightweight yet effective neural-network-based framework for infant action recognition that leverages the spatial and temporal correlation of bounding boxes of infants' hands and objects to reach for to determine the onset and offset of the reaching action...

IMPORTANCE: Restrictions related to the COVID-19 pandemic disrupted the lives of young children, but the association between the pandemic and any changes in early childhood developmental milestone achievement in the US remains unclear. OBJECTIVES: To determine the association between the COVID-19 pandemic and changes in developmental screening scores among US children aged 0 to 5 years and to investigate whether caregivers self-reported more worries about their children or concerns about children's behavior during the pandemic, regardless of milestone achievement...

In insects and other animals, nutrition-mediated behaviors are modulated by communication between the brain and peripheral systems, a process that relies heavily on the insulin/insulin-like growth factor signaling pathway (IIS). Previous studies have focused on the mechanistic and physiological functions of insulin-like peptides (ILPs) in critical developmental and adult milestones like pupation or vitellogenesis. Less work has detailed the mechanisms connecting ILPs to adult nutrient-mediated behaviors related to survival and reproductive success...

Neonatal screening for SMA has allowed the identification of infants who may present with early clinical signs. Our aim was to establish whether the presence and the severity of early clinical signs have an effect on the development of motor milestones. Infants identified through newborn screening were prospectively assessed using a structured neonatal neurological examination and an additional module developed for the assessment of floppy infants. As part of the follow-up, all infants were assessed using the HINE-2 to establish developmental milestones...

BACKGROUND: Choosing a partner and job have long been regarded as important developmental milestones to reach in adulthood. In a collective cultural context with high familial and societal expectations to commit to a relationship and job by age 30, maximizing on such life decisions might potentially harm one's well-being. The literature on maximization-well-being association is complex, and recent research suggests that this relationship might differ by its dimensions and cultural context...

Pediatric pulmonology fellowship training programs are required by the Accreditation Council for Graduate Medical Education to report Pediatric Subspecialty Milestones biannually to track fellow progress. However, several issues, such as lack of subspecialty-specific context and ambiguous language, have raised concerns about their validity and applicability to use for fellow assessment and curriculum development. In this Perspective, we briefly share the process of the Pediatric Pulmonology Milestones 2.0 Work Group in creating new specialty-specific Milestones and tailoring information on the Harmonized Milestones to pediatric pulmonologists, with the goal of improving the Milestones' utility for stakeholders, including pulmonology fellows, faculty, program directors, and accrediting bodies...

BACKGROUND: Neurodevelopmental trajectories of preterm children may have changed due to changes in care and in society. We aimed to compare neurodevelopmental trajectories in early and moderately late preterm children, measured using the Developmental (D)-score, in two cohorts born 15 years apart. METHODS: We included early preterm and moderately late preterm children from two Dutch cohorts (LOLLIPOP, 2002-2003 and ePREM, 2016-2017). ePREM counterparts were matched to LOLLIPOP participants by gestational age and sex...

BACKGROUND: Neurodevelopmental conditions such as intellectual disability (ID) and autism spectrum disorder (ASD) can stem from a broad array of inherited and de novo genetic differences, with marked physiological and behavioral impacts. We currently know little about the psychiatric phenotypes of rare genetic variants associated with ASD, despite heightened risk of psychiatric concerns in ASD more broadly. Understanding behavioral features of these variants can identify shared versus specific phenotypes across gene groups, facilitate mechanistic models, and provide prognostic insights to inform clinical practice...

ABSTRACT: Gangliosidosis is one of the hereditary metabolic diseases caused by the accumulation of Gangliosid in the central nervous system, leading to severe and progressive neurological deficits. Regarding phenotype, GM1 and GM2-Gangliosidosis are divided into Infantile, Juvenile, and Adult. MATERIALS & METHODS: In this study, thirty-seven patients with GM1 and GM2-Gangliosidosis were referred to the neurology department of Mofid Children's Hospital in Tehran, Iran, whose disease was confirmed from September 2019 to December 2021...

Johanson-Blizzard syndrome (JBS) is a rare hereditary autosomal recessive disorder caused by a mutation in the ubiquitin protein ligase E3 component n-recognin 1 (UBR1) gene. This syndrome is characterized by the following typical clinical features: hypoplasia or aplasia of the alae nasi, congenital scalp defects, sensorineural hearing loss, hypothyroidism, growth retardation, psychomotor retardation, imperforate anus, genitourinary anomalies, and atypical hair patterns. Here, we describe a case of a 12-year-old girl with JBS of consanguineous parents...

BACKGROUND: We compared early neurodevelopmental morbidity in young children with severe CDH who underwent FETO to those without fetal therapy. METHODS: We conducted a prospective study of severe CDH patients undergoing FETO (n = 18) at a single North American center from 2015 to 2021 (NCT02710968). Outpatient survivors (n = 12) were evaluated by a multidisciplinary team and compared to expectantly managed CDH patients. Neurodevelopmental outcomes were assessed using the Capute Scales [Clinical Linguistic and Auditory Milestone Scales (CLAMS) and Cognitive Adaptive Test (CAT)], with a developmental quotient (DQ) < 85 indicative of at-risk for delay...

OBJECTIVES: To analyse the demographic and clinical variables in children having undergone cochlear implant surgery because of deafness. METHODS: The cross-sectional study was conducted from January to November 2022 at the Centre for Research in Experimental and Applied Medicine laboratory of the Department of Biochemistry and Molecular Biology, Army Medical College, Rawalpindi, Pakistan, in collaboration with the Ear, Nose and Throat Department of Combined Military Hospital, Rawalpindi, and comprised children of eith gender aged up to 10 years who had received cochlear implant...

Meningitis caused by Streptococcus gallolyticus subspecies (subsp.) pasteurianus is a rare complication with 14 cases reported in literature worldwide between 2003-2023, with the majority of the cases occurring before 4 weeks of life and with preceding symptoms. This is a case report of an infection without any preceding symptoms. A previously healthy 7-week-old boy presented to the hospital with a fever for 1 day. Blood and cerebrospinal fluid cultures ultimately grew Streptococcus gallolyticus subsp. pasteurianus ...

BACKGROUND: Chronic lung disease of prematurity (CLD) is the most prevalent complication of preterm birth and indicates an increased likelihood of long-term pulmonary complications. The accurate diagnosis of this condition is critical for long-term health management. Numerous definitions define CLD with different clinical parameters and radiology findings, making diagnosis of the disease ambiguous and potentially inaccurate. METHODS: 95 patients were identified for this study, as determined by the diagnosis or confirmation of CLD in the impression of the radiologist's report on chest x-ray...

Autosomal Dominant Mental Retardation Type 7 is a disorder caused by pathogenic variants in the DYRK1A  gene. Clinical features associated with this gene mutation include focal dysmorphism, developmental delay, and epilepsy. In this report, we present a case of an 8-year-old boy with a DYRK1A gene mutation, whose clinical manifestations underscore the rarity and clinical challenges of this genetic condition. The patient is a known case of global developmental delay with intractable epilepsy on multiple anti-epileptic medications...

PURPOSE: This prologue introduces the forum "Pediatric Feeding Disorder and the School-Based SLP: An Evidence-Based Update for Clinical Practice" and informs the reader of the scope of articles presented. METHOD: The guest prologue author provides a brief history of pediatric feeding and swallowing services in the public-school setting, including previous forums on swallowing and feeding services in the schools (Logemann & O'Toole, 2000; McNeilly & Sheppard, 2008)...

Sudden infant death is a complex event characterized by biochemical features that are difficult to understand in general settings. Herein, we present a case report of a three-month-old infant who succumbed to sudden infant death syndrome (SIDS), focusing on the biochemical abnormalities identified through post-mortem analysis. The infant, previously healthy and meeting developmental milestones, was found lifeless in the crib during sleep. An autopsy revealed no anatomical abnormalities or signs of external trauma, consistent with SIDS diagnosis...