In the current genomic revolution, the infancy life stage is the most neglected. Although clinical genetics recognizes the value of early identification in infancy of rare genetic causes of disorders and delay, common genetic variation is almost completely ignored in research on infant behavioral and neurodevelopmental traits. In this Perspective, we argue for a much-needed surge in research on common genetic variation influencing infant neurodevelopment and behavior, findings that would be relevant for all children. We now see convincing evidence from different research designs to suggest that developmental milestones, skills and behaviors of infants are heritable and thus are suitable candidates for gene-discovery research. We highlight the resources available to the field, including genotyped infant cohorts, and we outline, with recommendations, special considerations needed for infant data. Therefore, infant genetic research has the potential to impact basic science and to affect educational policy, public health and clinical practice.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1038/s41588-024-01822-7 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Birth weight and ponderal index percentiles for twins based on sex and chorionicity in a center of Guangdong Province, China.
Transl Pediatr
December 2024
Department of Medical Genetics Centre, Guangdong Women and Children Hospital, Guangzhou, China.
Background: Intrauterine growth restriction (IUGR) which is judged based on birth weight and gestational age, is associated with increased neonatal mobility and mortality and also has a further impact on physical and mental health during later in life. Using the birth weight percentile for singletons to assess twins might not accurately reflect the growth status of the twins; this could potentially lead to an incorrect evaluation of growth-restricted children. For a more precise assessment of twin newborns, it is beneficial to utilize twin-specific birth weight percentile curves and ponderal index (PI) curves that consider factors such as birth order and sex.
View Article and Find Full Text PDFTrisomy 18 and the possibility of choice: The importance of Perinatal Hospice's support.
Eur J Pediatr
January 2025
Unit of Obstetrics and Gynecology, Università Cattolica del Sacro Cuore, Largo Francesco Vito 1, Rome, Italy.
Trisomy 18 is a severe aneuploidy associated with multiple malformations and a poor prognosis. The diagnosis is typically made prenatally, leading to a high rate of pregnancy terminations. The aim of this study is to demonstrate that even though the prognosis is heterogeneous, prolonged survival is possible and these children are an enrichment for their families after all.
View Article and Find Full Text PDFAn obscure gene editor was used to restore a missing liver enzyme in an infant with a devastating metabolic condition.
View Article and Find Full Text PDFChapter 7: CLINICAL FORMS AT DIFFERENT AGES OF LIFE: CHILDHOOD, PREGNANCY, LACTATION, OLD AGE.
Ann Endocrinol (Paris)
January 2025
Université Paris-Saclay, Inserm, Endocrine Physiology and Physiopathology, Assistance Publique-Hôpitaux de Paris, Hôpital Bicêtre, Service d'Endocrinologie et des Maladies de la Reproduction and Centre de Référence des Maladies Rares de l'Hypophyse HYPO, F-94270 Le Kremlin-Bicêtre, France. Electronic address:
Primary hyperparathyroidism is rare in children. A germline mutation is identified in half of all children with primary hyperparathyroidism (70% of newborns and infants, and 40% of children and adolescents). The clinical manifestations of primary hyperparathyroidism in children are highly variable (often absent in newborns, rather severe and symptomatic in children and adolescents) and depend on the genetic cause, as well as the severity, rapidity of onset and duration of hypercalcemia.
View Article and Find Full Text PDFClinical implications of maternal multikingdom transmissions and early-life microbiota.
Lancet Microbe
January 2025
Department of Pediatrics, Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, China. Electronic address:
Mother-to-infant transmission of the bacteriome, virome, mycobiome, archaeome, and their mobile genetic elements has been recognised in nature as an important step for the infant to acquire and maintain a healthy early-life (from birth till age 3 years) microbiota. A comprehensive overview of other maternal multikingdom transmissions remains unavailable, except for that of the bacteriome. Associations between microorganisms and diseases throughout the human life span have been gradually discovered; however, whether these microorganisms are maternally derived and how they concomitantly interact with other microbial counterparts remain poorly understood.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!