A 29 Mainland Chinese cohort of patients with Phelan–McDermid syndrome: genotype–phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes

Table 3 Developmental and behavioral features of patients with PMS in our cohort as compared to the literature

Feature	N	Total	%	Literature frequency^a (%)
Developmental/neurological
Speech (age ≥ 3)
Absent speech	11	20	55
Sentences	9	20	45
Walk independently (age ≥ 3)	20	20	100
DD/ID	23	26	88
Any type of seizures (including febrile seizures)	7	29	24	14–41
Overheats or turns red easily	5	29	17	68^b
Decreased perspiration	2	29	7	60^b
Overly sensitive to touch	5	29	17	46^b
Increased pain tolerance	18	29	62	29–100
Arachnoid cyst	4	29	14	19^b
Hypotonia	24	29	83	29–100
Gait abnormalities	16	29	55	93^c
Behavioral features
Autism spectrum disorder (age ≥ 3)	16	20	80	31^b
Impulsiveness	22	29	76	47^c
Chewing difficulties (difficulty with eating)	9	29	31	58^c
Biting (self or others)	9	29	30	46^b
Hair pulling	9	29	31	41^b
Excessive screaming	5	29	17	31^b
Aggressive behavior	9	29	30	28^b
Nonstop crying (crying non-stop for 3 h)	13	29	45	21^b
Hyperactivity	24	29	83	47^c
Self-injury	3	29	10
Pica	3	29	10
Repetitive behaviors	20	29	69	100^c
Sleep disturbance	7	29	24	41–46
Regression	13	29	45	65^d
Other clinical features
Gastroesophageal reflux	2	29	7	> 25–44
Diarrhea/constipation	7	29	23	38–41
Congenital heart defect	4	29	14	3^c
Genital anomalies	1	23	4	5^b
Eczema	8	29	28	18^d
Enzyme deficiency	0	29	0	4^b
Immune deficiency	1	29	3	12^b
Recurring upper respiratory tract infections	6	29	21	29–100
Hearing loss	1	29	3	3^d
Allergies	5	29	17
Asthma	1	29	3
Renal abnormalities	3	21	14	17–38
Lymphedema	0	29	0	22–29
Hypothyroid	0	29	0	6^b
Diabetes	0	29	0	2^b
Vitiligo	0	29	0	3^c

^aFrequencies based on the literature review available [27]
^bFrequencies available in the clinical and genomic evaluation of 201 patients with PMS [23]
^cFrequencies based on a Brazilian cohort of individuals with PMS [22]
^dFrequency based on the analysis of PMS individuals carrying SHANK3 point mutations [28]
^eFrequencies based on a previous report [5]

ISSN: 1750-1172