There has been a gap in the blog, so here are some recent studies to help catch up.
1) Quality of life in TS
There has been increasing interest in trying to assess the 'quality of life' experienced by people with TS and their families- because measuring the severity of tics or other aspects like ADHD or OCD may not tell the whole story.
For instance, some people with quite severe tics are not particularly bothered by them, whilst others with fairly mild tics are greatly distressed by them- what matters is the impact on the individual. There is already a questionnaire specially for quality of life in TS that some members may have helped to test out when it was being developed by Professor Robertson, Dr. Cavanna and others.
This new German study ncbi.nlm.nih.gov/pubmed/200... used generic standard measures (rather than the new TS scale) and also looked at depression. The results showed a significantly reduced quality of life in adult patients with TS and this was worse according to age, severity of symptoms and the presence of depression. All this is predictable but important in showing how much having TS affects people, so we can try and demonstrate this to the outside world and also address reversible factors that could make them function better- e.g. depression.
2) MRI imaging in TS
There are very many studies of various kinds of brain scanning in TS. Scans in individual patients are not useful as they are normal, but research uses average results from groups of patients to see what differences can be found with 'normal controls' i.e. people who do not have TS or other diagnoses.
It is becoming easier to draw general conclusions from this body of work, but each individual study can sometimes be hard to interpret. There are two recent new ones.
An American study (ncbi.nlm.nih.gov/pubmed/201... uses an MRI technique to look at circuits in the brain by examining how water molecules move around (if they are trapped in a nerve circuit then they can't move around so much). Like many previous studies of various types the conclusion was that the abnormality lies in the parts of the brain that are known to be critical in controlling movement- known as cortico-striatal circuits between the motor part of the surface of the brain and certain deep parts of the brain called the basal ganglia.
A second study from Spain (ncbi.nlm.nih.gov/pubmed/201... used more conventional MRI methods to look at the structural appearance of the brain and identified subtle abnormalities caused by expanded spaces around blood vessels in patients compared to normal controls. The area affected is also in part of the basal ganglia called the substantia nigra-in fact the part that Parkinson's disease affects, although there is no clinical link between the two conditions. The trouble with this is that these spaces around blood vessels in the brain are usually considered a normal variant that don't cause any symptoms, but the authors hypothesise that when they are in the substantia nigra in TS they may be more significant.