New findings in 22q11.2 Deletion Syndrome News Round-Up September 2013 3rd Edition


There have been a few new findings in 22q11.2 Deletion Syndrome which can leads to a number of conditions including Schizophrenia, Graves disease and Rheumatoid Arthritis and has a prevalence of 1 in 4,000 (although it may be more common). Both Velocardofacial syndrome or DiGeorge’s syndrome result from 22q11.2 deletion but the term ’22q11.2 Deletion Syndrome’ subsumes both of these syndrome names. There has been an established link with Autistic Spectrum Disorders but  a recent study suggests this is not the case. Dr Angkustsiri and colleagues at UC Davis have found that although 22q11.2 Deletion Syndrome is associated with social impairment, this does not meet the criteria for Autistic Spectrum Disorders. In another study researchers found that 4 out 159 people with 22q11.2  Deletion Syndrome had Parkinson’s Disease with age of onset between 39 and 48 years of age. These initial findings will need further confirmation.

Researchers have found a complex relationship between weight gain over the age of 50 and mortality.

via MedWire News the researchers in one study found that retinal venules were wider in people with Schizophrenia than in a control group (n=922) although the significance is unclear.

The National Institutes of Health in America are allocating significant funding for Alzheimer’s Disease prevention studies.



brain.1A new tool for assessing fine motor control suggests development takes longer than previously thought.

A PLOS One study looking at young and older adults doesn’t support the positivity hypothesis for older adults. This hypothesis states that older adults are better at processing and remembering information with a positive emotional valence. The researchers in this study used electroencephalography to investigate brain response to face stimuli.

Researchers have found that the Tet1 gene is linked to memory extinction and this knowledge may guide the future development of treatments for Post-Traumatic Stress Disorder (although this is speculative). There are a number of other genes which are linked to memory extinction.

A high resolution scanning probe microscope has enabled researchers to measure electrical activity at synapses at an unprecedented level of detail.

Reesearchers have identified a gradient of inhibition in the Entorhinal cortex and suggest this influences synchronisation.

Evolutionary Psychiatry, Evolution & Culture

iStock_000004855799SmallResearchers have found evidence that Neanderthals were eating Salmon from a nearby river 45,000 years ago. The Neanderthals were living in a cave inhabited by other species such as the Cave Bear at different times. The researchers examined the radioisotopes of the specimens to determine that the Salmon were most likely associated with the Neanderthal remains. This is consistent with findings in Gibraltar where Neanderthal remains were associated with marine life remains.

Researchers have identified what may be Dinosaur feathers preserved in amber from approximately 80 million years ago. The research looked at a collection of amber specimens and the team believe that they may have identified Dinosaur feathers and protofeathers with colour preservation. These findings can give valuable insights into the more general features of evolution such as species adaptations.


News Round-Up 2008-2011

News Round-Up 2012

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