Down Syndrome
Cluster Number:
Wiki Number: W069
Diagnosis: Down Syndrome
US Patients: 1 in 1000 babies
World Patients: 5 Mil
Sex Ratio:
Age Onset: Ave IQ-50
Brain Area: Also know as Trisomy 21 due to a third set of genes.
Symptoms: Ages 8-9 maximum mental development.
Progression: probability of a Down-born child increases with the age of the parents.
Causes: 3rd copy of Chromosome 21
Medications: None listed.
Therapies: Support and education
Youtube Video: Down Syndrome Journey
Amazon or Library Book:
Mental Wellness in Adults with Down Syndrome
Amazon or Library Book:
Up, Not Down Syndrome
Click the book to link or buy through Amazon.
Click the book to link or buy from Amazon.
Support Group: ndss.org; 800-221-4602
(National Down Syndrome Society)
4 CURRENT ARTICLES
FROM PUBMED
The world-wide medical research
reports chosen for each diagnosis
Clicking each title opens the
PubMed article’s summary-abstract.
- Rcn1, the fission yeast homolog of human DSCR1, regulates arsenite tolerance independently from calcineurinby Teruaki Takasaki on May 8, 2024
Calcineurin (CN) is a conserved Ca^(2+)/calmodulin-dependent phosphoprotein phosphatase that plays a key role in Ca^(2+) signaling. Regulator of calcineurin 1 (RCAN1), also known as Down syndrome critical region gene 1 (DSCR1), interacts with calcineurin and inhibits calcineurin-dependent signaling in various organisms. Ppb1, the fission yeast calcineurin regulates Cl^(-)-homeostasis, and Ppb1 deletion induces MgCl(2) hypersensitivity. Here, we characterize the conserved and novel roles of the...
- Experiences of children with congenital Zika syndrome while using motorized mobility: a qualitative study using the photovoice methodby Amanda Spínola Barreto on May 8, 2024
CONCLUSION: The narratives provided by participants, along with photographs depicting the daily lives of children with CZS, shed light on aspects of functionality, autonomy, and participation. The use of these devices contributes to overall equity, breaking down social and cultural barriers and enabling children with disabilities to be seen as equals by their peers.
- Factors influencing gastrostomy tube feeding duration and nutrition outcomes in pediatric patients with Down syndrome: A descriptive cohort studyby Thomas Aviles on May 8, 2024
CONCLUSION: In our cohort of patients with Down syndrome, age at placement of G-tube did not impact the duration of G-tube feeds. Most patients who had a G-tube placed were likely to require enteral feeds for at least 1 year. Those who had a tracheostomy needed their G-tube for a longer time.
- MTHFR 677C>T and 1298A>C Variants in Mothers of Infants with Down Syndrome from Western Mexicoby Yaneris Maibeth Romero-Bolaño on May 8, 2024
Background: Several studies in mothers of infants with Down syndrome (DS) (MoIDS) have suggested that the 677C>T and 1298A>C variants of the 5,10-methylentetrahydrofolate reductase (MTHFR) gene can increase the risk of having a child with DS. Aim: This study aimed to evaluate the MTHFR 677C>T and 1298A>C variants as potential maternal risk factors for DS. Materials and Methods: Using TaqMan allelic discrimination assay, we genotyped 95 MoIDS and 164 control mothers from western Mexico. Data were...