Skip to main content

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

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

Feature N Total % Literature frequencya (%)
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 68b
 Decreased perspiration 2 29 7 60b
 Overly sensitive to touch 5 29 17 46b
 Increased pain tolerance 18 29 62 29–100
 Arachnoid cyst 4 29 14 19b
 Hypotonia 24 29 83 29–100
 Gait abnormalities 16 29 55 93c
Behavioral features
 Autism spectrum disorder (age ≥ 3) 16 20 80 31b
 Impulsiveness 22 29 76 47c
 Chewing difficulties (difficulty with eating) 9 29 31 58c
 Biting (self or others) 9 29 30 46b
 Hair pulling 9 29 31 41b
 Excessive screaming 5 29 17 31b
 Aggressive behavior 9 29 30 28b
 Nonstop crying (crying non-stop for 3 h) 13 29 45 21b
 Hyperactivity 24 29 83 47c
 Self-injury 3 29 10  
 Pica 3 29 10  
 Repetitive behaviors 20 29 69 100c
 Sleep disturbance 7 29 24 41–46
 Regression 13 29 45 65d
Other clinical features
 Gastroesophageal reflux 2 29 7 > 25–44
 Diarrhea/constipation 7 29 23 38–41
 Congenital heart defect 4 29 14 3c
 Genital anomalies 1 23 4 5b
 Eczema 8 29 28 18d
 Enzyme deficiency 0 29 0 4b
 Immune deficiency 1 29 3 12b
 Recurring upper respiratory tract infections 6 29 21 29–100
 Hearing loss 1 29 3 3d
 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 6b
 Diabetes 0 29 0 2b
 Vitiligo 0 29 0 3c
  1. aFrequencies based on the literature review available [27]
  2. bFrequencies available in the clinical and genomic evaluation of 201 patients with PMS [23]
  3. cFrequencies based on a Brazilian cohort of individuals with PMS [22]
  4. dFrequency based on the analysis of PMS individuals carrying SHANK3 point mutations [28]
  5. eFrequencies based on a previous report [5]