Objective: To determine the survival status of children with Down syndrome (DS), and to document factors influencing survival.
Design: Follow-up study of cases identified from the Dublin European Register of Congenital Anomalies and Twins (EUROCAT) Register. Follow-up was attempted for each case until death or 1992 or until the date last known to be alive.
Setting: Eastern Health Board, Dublin.
Subjects: In all, 389 DS children, born between 1 January 1980 and 31 December 1989 were followed up.
Results: Survival rates of 88% at one year and 82% at 10 years were found. There was a non-significant improvement in survival between the cohort born in 1980-1984 and that born in 1985-1989. Congenital heart defects reduced survival to 72% and complete atrio-ventricular canal defects (CAVD) had the poorest prognosis (58% survival at 10 years). Cases with CAVD showed a trend towards improved survival when surgically treated. Maternal age mother's county of residence, sex of infant, season of birth and presence of additional non-cardiac congenital anomalies had no impact on survival.
Conclusions: Four out of five DS children now survive at least 10 years. Adequate educational and health service provision needs to be made for them, especially those with congenital heart defects. The need for studies which compare survival and quality of life in DS children with CAVD who undergo cardiac surgery versus those who do not, taking account of various selection factors, is identified.
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http://dx.doi.org/10.1093/ije/26.4.822 | DOI Listing |
Clin Case Rep
January 2025
Department of Radiology and Radiotherapy, School of Medicine, College of Health Sciences Makerere University Kampala Uganda.
Double outlet right ventricle (DORV) is a rare congenital heart defect where both the aorta and pulmonary artery originate from the right ventricle, often accompanied by additional cardiac anomalies to mitigate circulatory imbalance, though such compensations usually fail. We report a 15-month-old infant with recurrent respiratory infections and poor weight gain, referred for computed tomography angiography. Physical examination showed a small, non-syndromic infant with pallor, tachypnea, irritability, and finger clubbing.
View Article and Find Full Text PDFFront Pediatr
December 2024
Department of Ultrasound, Jinan Maternity and Child Care Hospital, Jinan, Shandong, China.
Congenital melanocytic nevus (CMN) syndrome is a rare, non-familial neural ectodermal dysplasia characterized by CMN combined with extracutaneous abnormalities, predominantly involving the central nervous system (CNS). The pathogenesis of CMN syndrome is thought to result from early post-zygotic somatic mutations. CNS melanosis frequently affects the anterior temporal lobes, brainstem, cerebellum, and cerebral cortex.
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December 2024
Key Laboratory of Birth Defects and Related Diseases of Women and Children of Ministry of Education (MOE), Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
This case is the first reported patient with a gene mutation who primarily exhibits pronounced inattention as the main manifestation and is diagnosed with ADHD, requiring methylphenidate treatment. It is characterized by unique clinical features that set it apart from previously reported cases with mutations in the gene. Here, we report a female child with a diagnosis of ADHD and comorbidities.
View Article and Find Full Text PDFLaryngoscope
January 2025
Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, U.S.A.
Objective: Peripheral bilateral vestibular hypofunction (BVH) is a rare condition that is well-studied in the adult population, whereas characterization in children has been limited. We report a pediatric cohort of patients with BVH at a multidisciplinary, tertiary care pediatric vestibular clinic.
Methods: A record review of 832 patients with balance-related complaints in our center was conducted.
Pediatr Cardiol
January 2025
Service of Cardiac Surgery, Lausanne University Hospital and University of Lausanne, Rue du Bugnon 46, 1011, Lausanne, Switzerland.
Cardiac surgery, both adult and pediatric, has developed very rapidly and impressively over the past 7 decades. Pediatric cardiac surgery, in particular, has revolutionized the management of babies born with congenital heart disease such that now most patients reach adult life and lead comfortable lives. However, these patients are at risk of cerebral lesions, which may be due to perioperative factors, such as side effects of cardiopulmonary bypass and/or anesthesia, and non-perioperative factors such as chromosomal anomalies (common in children with congenital heart disease), the timing of surgery, number of days on the intensive care unit, length of hospitalization and other hospitalizations in the first year of life.
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