Dup15q model mice exhibit impaired gastrointestinal motility and a constipation-like phenotype, alleviated by prucalopride.

Congenital heart disease (CHD) is among the most common congenital anomalies worldwide and remains an important contributor to infant morbidity and mortality [, ]. Global estimates suggest that CHD affects approximately 8–9 per 1,000 live births, although reported prevalence varies across regions and health systems []. CHD includes a broad spectrum of structural cardiac abnormalities that develop during fetal life, ranging from mild lesions requiring follow-up to critical defects requiring urgent diagnosis and intervention [, ]. Timely recognition, referral, and management are important in the clinical pathway of children with suspected CHD. Although many cases can be detected through prenatal screening, neonatal assessment, pulse oximetry screening, or routine pediatric evaluation, delayed or missed diagnosis continues to occur, particularly in settings where screening coverage, referral pathways, and access to specialized pediatric cardiac services may be variable [–]. Delayed diagnosis of CHD has been associated with increased morbidity and mortality, and timing of diagnosis may affect outcomes in critical CHD [, ]. Prenatal detection can vary according to access to fetal cardiac imaging, quality of ultrasound assessment, timing of examination, and examiner expertise []. Pulse oximetry screening is highly specific but only moderately sensitive for critical CHD and may miss lesions that do not produce early oxygen desaturation []. In addition, some infants may appear clinically well at birth, with symptoms becoming more apparent only after discharge or as feeding demands increase [, ]. Other symptoms, such as feeding difficulty, sweating, poor weight gain, recurrent chest infections, or mild respiratory distress, may be nonspecific and mistaken for more common infant conditions [, ]. Health-system factors, including delayed clinical recognition, referral barriers, and variable access to specialized pediatric cardiac services, may also contribute to diagnostic delay [, ].