Research news and commentary #2 for 2017

Model assessment may predict obstructive sleep apnea in children with Down syndrome

Massachusetts General Hospital, 26 January 2017

Simplified screening as part of primary care visit could reduce need for complicated, uncomfortable sleep studies. 

A combination of parental questionnaires and inexpensive diagnostic procedures that can be performed as part of a primary care visit may be able to rule out the presence of obstructive sleep apnea in people with Down syndrome. If validated in a future study currently in progress, this assessment – developed by a team led by a MassGeneral Hospital for Children (MGHfC) physician – may be able to greatly reduce the need for sleep studies, which can be expensive and inconvenient for patients and their families ...

Interview with Dr Brian Skotko about the study:

In-Office Exam May Rule Out Sleep Apnea in Kids with Down Syndrome
Salynn Boyle, MedPage Today, 27 January 2017

... Skotko said that he knows the importance of diagnosing and treating Down syndrome-related OSA from both professional and personal experience.
His sister Kristin, who has Down syndrome, was successfully treated for OSA with a tonsillectomy as a child, but the sleep disorder recurred when she got older. She is now 36, and her OSA is again being successfully treated ...

Research report:

A predictive model for obstructive sleep apnea and Downsyndrome
Brian Skotko et al, American Journal of Medical Genetics,  2017; 9999: 1–8

Obstructive sleep apnea (OSA) occurs frequently in people with Down syndrome (DS) with reported prevalences ranging between 55% and 97%, compared to 1–4% in the neurotypical pediatric population. Sleep studies are often uncomfortable, costly, and poorly tolerated by individuals with DS. The objective of this study was to construct a tool to identify individuals with DS unlikely to have moderate or severe sleep OSA and in whom sleep studies might offer little benefit ...

Cause of death and potentially avoidable deaths in Australian adults with intellectual disability using retrospective linked data 

Julian Trollor, Preeyaporn Srasuebkul, Han Xu, Sophie Howlett, BMJ Open, 7 February 2017 

• This study is also linked in today's earlier post with links to media reports

Clinic claims it has used stem cells to treat Down’s syndrome

Andy Coghlan, New Scientist, 1 February 2017
A clinic claims it has used stem cells to treat Down’s syndrome in up to 14 people. “As far as we know, it’s the first time that stem cells have been used to treat Down’s syndrome,” says Jyoti Titus, manager at Nutech Mediworld clinic in New Delhi, India.

The announcement has set alarm bells ringing. It’s not clear to independent stem cell or Down’s experts how stem cells – which can form many types of tissue – might treat Down’s ...