Table 3.
Reported comorbidities in individuals with PMS in our cohort as compared to the literature
| Comorbidity | N | Total | Present study | Literature frequencya |
|---|---|---|---|---|
| Hypotonia | 28 | 33 | 85% | 29–100% |
| Increased pain tolerance | 24 | 30 | 80% | 10–88% |
| Recurring upper respiratory tract infections | 20 | 33 | 61% | 8–53% |
| Chewing difficulties | 19 | 33 | 58% | 50%b |
| Gastroesophageal reflux | 17 | 30 | 57% | > 25–44% |
| Constipation and/or diarrhea | 14 | 33 | 42% | 38–41% |
| Sleep disturbance | 13 | 33 | 39% | 41–46% |
| Renal abnormalities | 10 | 33 | 30% | 17–38% |
| Seizures (febrile and/or non-febrile) | 9 | 34 | 26% | 14–41% |
| Precocious or delayed puberty | 4 | 28 | 14% | 0–12% |
| Lymphedema | 4 | 30 | 13% | 22–29% |
| Cardiac abnormalities | 2 | 34 | 6% | 3–25% |
| Hearing loss | 1 | 34 | 3% | NAc |
aFrequencies based on the literature review available [15]
bFrequency available in the analysis of PMS individuals carrying SHANK3 point mutations [16]
cAlthough the frequency of this comorbidity was not considered in this study, the literature describes some cases of PMS individuals presenting hearing loss [17, 18]