Phelan McDermid Syndrome (pms) Prevalence Tracker
POPULATION PREVALENCE ESTIMATE
13.7
per
100,000
Approximately
1 in ~7,300
individuals have PMS
10.02 - 18.60 per 100,000
95% CONFIDENCE INTERVAL
(1 in ~10,000 to 1 in ~5,400)
HOW TO ESTIMATE WHAT WAS DERIVED
Data sources
The study team reached out to clinical genetic testing laboratories, research centres, and clinical centres.
Data collected
Sited provided the number of PMS diagnosis made out of the total number of participants with autism tested at their site.
Adjustments made
Further extrapolations were made to adjust for the proportion of individuals with PMS who do not have autism, autism diagnosis age limitations, and type of genetic variant.
Population extrapolation
Centres of Disease Control estimates of autism rates were used to extrapolate to the general population.
Final estimate
After applying extrapolations, including adjustments for assay sensitivity and other factors, the final weighted average was 13.7 per 100,000.
STUDY DETAILS
Sources participating
10
Autism case evaluated
179,837
Frequency of PMS diagnosis among autism cases
1% to ~2.5%
(Raw results varied by testing method and should not be directly compared.)
Study Design
Population-based estimation study
Population represented
General population (via extrapolation from autism rates)
Key Findings
This population-based study found PMS to affect approximately 13.7 per 100,000 individuals (1 in ~7,300), with a 95% CI of 10.02-18.60 per 100,000 (1 in ~10,000 to 1 in ~5,400), substantially higher than previous estimates of 2.5-10 per million births (0.25-1 per 100,000).
Phelan-McDermid syndrome (PMS) is a genetic neurodevelopmental disorder caused by haploinsufficiency of SHANK3, either by a 22q13 deletion pr pathogenic sequence variant.