Miscellaneous Research

Although it's rarely mentioned in clinical descriptions of PWS, anyone who hangs around families with PWS knows that seizures seem to occur much more frequently in those with PWS than typical individuals. Even in cases where a seizure disorder is never formally diagnosed, many parents have, at one time or another, had their child with PWS evaluated because they appear to be having seizures or unusual movements.

The 6th Annual International Prader-Willi Syndrome Organization (IPWSO) Conference was held in Romania in June 2007. The research abstracts from the conference are available online at the Asociación Madrileña para el Síndrome de Prader-Willi (AMSPW) website.

It’s not often that words such as “rescue of neurological deficits” “therapy for cognitive impairment” and “reversal of neurological defects” are used in the titles of papers studying genetic disorders like Angelman, Down, and Rett syndromes – but a recent trio of papers does just that, offering hope for all those with complex neurodevelopmental disorders.

Since it has been suggested by some studies in the medical literature that increased height is associated with higher IQ, one might think that rapid ‘catch up’ growth after a period of nutrition restriction would lead to an improved outcome. A recent study suggests that just the opposite may be true (at least if you’re a bird..).

Progress in understanding the basis of autism is relevant to PWS for a number of reasons, including the high incidence of autistic behaviors in those with PWS (see, for example: Descheemaeker MJ, et al Pervasive developmental disorders in Prader-Willi syndrome: the Leuven experience in 59 subjects and controls. Am J Med Genet 140A:1136-42, 2006) and the association between autism and duplication of PWS region on chromosome 15 (Battaglia A. The inv dup(15) or idic(15) syndrome: a clinically recognisable neurogenetic disorder. Brain Dev. 27::365, 2005)But, getting to the bottom of what causes autism has proven very difficult.

The International Congress of Neuroendocrinology was held this week at Univ Pittsburgh- some very interesting things were dicussed there .

Kids behave and sleep better after tonsillectomy, University of Michigan study findsHyperactivity, attention deficit, sleepiness, and ADHD often improved – whether or not sleep studies showed sleep apnea before surgery

There’s a new paper out on Down syndrome that I thought I’d share because it demonstrates several points that I think are relevant to PWS. First, it shows how even complex genetic syndromes can be dissected down to the molecular pathways. Further, it demonstrates that understanding which pathways are disrupted can lead to therapeutic interventions;

Myostatin normally keeps muscles from growing. Scientist are trying to inhibit myostatin as a therapeutic approach for kids with muscular dystrophy; this strategy has just entered clinical trials using an antibody that sops up the myostatin.

Brain imaging is really starting to come into its own these days --- the technology is improving and scientists are getting better at interpreting the results. In addition, the NIH is emphasizing support of imagining technology, so hopefully the field will continue to advance pretty quickly.