Down Syndrome: Changing Cardiac Phenotype?

Down Syndrome: Changing Cardiac Phenotype?

Down syndrome (DS) is the most common chromosomal abnormality, affecting 1 in 700 infants born yearly in the United States.1 The birth prevalence of DS varies internationally among populations, likely due to variations in maternal age, race/ethnicity, use of prenatal screening, and terminations of affected pregnancies.2, 3 Approximately half of all infants born with DS also have a congenital he...

The development of the Down syndrome phenotype

This month’s practitioners meeting involved an interesting and fruitful discussion of a new paper published in Infants and Children. The author, Deborah Fidler, of Colorado State University has been working in the field of genetic syndromes associated with intellectual disabilities, including Down syndrome since 1997. This paper clearly and concisely reviews the growing body of research into th...

Cardiac surgical aspects of Down syndrome

Results 82,5% (n = 28) had hard combined CHD, 82,4% (n = 28) high pulmonary hypertension, all patients heart failure. In 20,6% (n = 6) patients heart catheterization was performed. 6 (20,6%) kids received only medical treatment: 2 (5,8%) inoperable, 3 (8,8%) medical preparation for surgery due to PH, 1 (2,9%) no need of surgery. 28 (82,4%) patients were operated on. 26 (92,8%) were open heart c...

The Down syndrome behavioural phenotype: Taking a developmental approach

Individuals with Down syndrome are predisposed to show a specific behavioural phenotype, or a pattern of strengths and challenges in functioning across different domains of development. It is argued that a developmental approach to researching the Down syndrome behavioural phenotype, including an examination of the dynamic process of the unfolding of the phenotype, will advance science and serv...

RCAN1 and Its Potential Contribution to the Down Syndrome Phenotype