An estimated 15% of children in the United States have at least one developmental delay, yet less than one-fifth of those children receive early intervention services before three years of age. Many barriers exist to implementing initial screening and referral, but screening tools can be easily incorporated into the workflow of the primary care practice with preparation. The use of a validated screening tool at regular, repeated intervals, in addition to physician surveillance at well-child visits, may improve early detection. Early intervention is effective in high-risk children and associated with improvements in cognitive and academic performance. Parent-completed tools are preferable to directly administered tools in the primary care setting because of time constraints. The most extensively evaluated parentcompleted tools are the Ages and Stages Questionnaire and the Parents' Evaluation of Developmental Status. Family physicians should be familiar with currently available screening tools and the limitations and strengths of these tools. Additional evaluations and referrals are recommended if screening suggests developmental delays are present.
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Am J Hum Genet
January 2025
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany; Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany; Institute of Clinical Human Genetics, University Hospital Regensburg, 93053 Regensburg, Germany. Electronic address:
BCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily the immune and nervous systems. BCL11B germline variants have been associated with a variety of developmental syndromes. However, genotype-phenotype correlations along with pathophysiologic mechanisms of selected variants mostly remain elusive.
View Article and Find Full Text PDFChilds Nerv Syst
January 2025
Department of Global Health, Faculty of Health Sciences, McMaster University, 1280 Main St W, Hamilton, ON, L8S 4L8, Canada.
Background: A giant encephalocele associated with Chiari malformation is a rare congenital anomaly from a cephalad neural tube defect. Early prenatal diagnosis and parental counseling are essential; as early surgical intervention can improve outcomes.
Methods: Between 2010 and 2023, twenty-seven newborns out of 43,815 delivered at our institution were diagnosed with encephaloceles, including seven cases of giant encephalocele associated with Chiari malformation type III.
J Child Psychol Psychiatry
January 2025
Division of Developmental Medicine, Boston Children's Hospital, Boston, MA, USA.
Background: Attention deficit hyperactivity disorder (ADHD) is a common neurodevelopmental outcome among children with a history of early institutional care. Prior research on institutionalized children suggested that accelerated physical growth in childhood is a risk factor for ADHD outcomes.
Methods: The current study examined physical and neurophysiological growth trajectories among institutionalized children randomized to foster care treatment (n = 59) or care as usual (n = 54), and never institutionalized children (n = 64) enrolled in the Bucharest Early Intervention Project (NCT00747396, clinicaltrials.
Plants (Basel)
December 2024
State Key Laboratory of Crop Gene Resources and Breeding, Institute of Crop Sciences, Chinese Academy of Agricultural Sciences, Beijing 100081, China.
Yield-related traits have higher heritability and lower genotype-by-environment interaction, making them more suitable for genetic studies in comparison with the yield per se. Different populations have been developed and employed in QTL mapping; however, the use of reciprocal SSSLs is limited. In this study, three kinds of bi-parental populations were used to investigate the stable and novel QTLs on six yield-related traits, i.
View Article and Find Full Text PDFTaiwan J Obstet Gynecol
January 2025
Department of Obstetrics and Gynecology, Changhua Christan Hospital, Changhua, Taiwan. Electronic address:
Objective: Prenatal diagnosis of fetal 13q34 microdeletion is a rare condition, which may present with abnormal fetal development, including facial dysmorphism, mental retardation, and developmental delay. We present a pregnant woman in whom the fetus presented with a 0.24-cm ventricular septal defect at 20 weeks of gestation, with fetal 13q34 (113610612-115092648) deletion.
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