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Table 3 Reported comorbidities in individuals with PMS in our cohort as compared to the literature

From: A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case

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
  1. aFrequencies based on the literature review available [15]
  2. bFrequency available in the analysis of PMS individuals carrying SHANK3 point mutations [16]
  3. 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]