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.
- Validation of a German version of the dementia screening questionnaire for individuals with intellectual disabilities (DSQIID-G) in Down's syndromeby G Nuebling on May 17, 2024
CONCLUSIONS: The DSQIID-G showed excellent psychometric properties, including concurrent and internal validity and reliability. The cut-off value for screening was lower than in the original English validation study. For a screening instrument like DSQIID-G, a lower cut-off is preferable to increase case detection.
- FMRP regulates postnatal neuronal migration via MAP1Bby Salima Messaoudi on May 17, 2024
The fragile X syndrome (FXS) represents the most prevalent form of inherited intellectual disability and is the first monogenic cause of autism spectrum disorder. FXS results from the absence of the RNA-binding protein FMRP (fragile X messenger ribonucleoprotein). Neuronal migration is an essential step of brain development allowing displacement of neurons from their germinal niches to their final integration site. The precise role of FMRP in neuronal migration remains largely unexplored. Using...
- Very elevated hCGbeta (10 multiple of the median) in maternal marker screening for Down syndrome: Frequency, etiologies, outcomes, and guidelinesby Sophie Dreux on May 17, 2024
CONCLUSION: This study establishes the frequency of hCG or hCGβ values ≥10 MoM, presents a flow chart that optimizes follow-up, and gives clear information for patients presenting with such abnormal values at trisomy 21 screening.
- Unraveling the mechanistic interplay of mediators orchestrating the neuroprotective potential of harmineby Pankaj Kadyan on May 17, 2024
Neurodegenerative diseases (NDDs) encompass a range of conditions characterized by the specific dysfunction and continual decline of neurons, glial cells, and neural networks within the brain and spinal cord. The majority of NDDs exhibit similar underlying causes, including oxidative stress, neuroinflammation, and malfunctioning of mitochondria. Elevated levels of acetylcholinesterase (AChE) and butyrylcholinesterase (BChE), alongside decreased expression of brain-derived neurotrophic factor...