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

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

Comorbidity	N	Total	Present study	Literature frequency^a
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%	NA^c

^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]

ISSN: 1866-1955