KS Patient Population Believed To Be Much Larger Than Current Estimate of 500 People
K.I.D.S. IQ Project’s records currently indicate that the worldwide KS population is approximately 500 people. However, since KS is a relatively newly discovered genetic condition, it is believed by some geneticists and members of the scientific community that this figure could be dramatically higher. Anecdotal evidence suggests that awareness of KS is generally quite low, even amongst members of the medical community including pediatricians and geneticists, so there is limited diagnostic testing in this area. Diagnostics/screening tests do not take place during pregnancy (unlike in other syndromes such as Down syndrome). In addition, diagnostic tests to identify KS (after birth) require a medical referral which may not be provided due to KS’s relatively unknown nature. Often, patients are given other incorrect medical explanations or a less specific and broader diagnosis. Therefore, as the estimated number of individuals affected by KS is low today, the incidence of KS is likely far greater than current estimates.
Kleefstra Syndrome Spectrum (KSS)
A number of other genes have now been identified that interact very closely with EHMT1, the gene associated with KS. Patients who exhibit KS-type symptoms often have a gene deletion or mutation in one of these other genes (instead of EHMT1) – such patients are referred to as KSS patients and are estimated to be 3 times larger in terms of patient population (although limited data is available); it is believed that a treatment for either KS or KSS patients could prove effective for all patients in this spectrum.