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Table 1 Main sociodemographic and clinical characteristics of the sample

From: Characterisation of the clinical phenotype in Phelan-McDermid syndrome

Sample characteristics 

N

%

Sex

  

 Male | Female

30 | 30

50 | 50%

Age

  

 0–5 years

14

23.3%

 6–11 years

25

41.7%

 12–17 years

12

20.0%

 ≥18 years

9

15.0%

Socioeconomic status

  

 Low | M-low | Middle

1 | 14 | 9

1.6% | 23.3% | 15%

 M-upper | Upper

17 | 19

28.3% | 31.6%

Gestational age

  

 Pre-term (<37 weeks)

12

20.0%

 Full-term (38–42 weeks)

48

80.0%

Language (≥3 yo)*

54

 

 No words

28

51.9%

 Single words

7

13.0%

 Simple sentences

11

20.4%

 Fluid speech

8

14.8%

Developmental regression/Loss of skills (parent reported)

  

 Yes | No

25 | 35

41.7 | 58.3%

Recovered skills

  

 Yes | No

12 | 13

48 | 52%

Autistic and other clinically relevant behaviours

N

%

ADOS-2*

48

-

 Total-CSS 1–3

12

25.0%

 Total-CSS 4–5

8

16.7%

 Total-CSS 6–10

28

58.3%

CBCL* (1.5–5 years | 6–18 years)

10 | 28

 

 Emotionally reactive

4 | n/a

40% | n/a

 Anxious/depressed

0 | 0

0% | 0%

 Somatic complaints

0 | 6

0% | 21%

 Sleep problems

1 | n/a

10% | n/a

 Attention problems

6 | 20

60% | 71%

 Withdrawn

7 | 7

70% | 25%

 Aggressive

3 | 6

30% | 21%

 Rule-breaking

n/a | 3

n/a | 11%

 Social problems

n/a | 18

n/a | 64%

 Thought problems

n/a | 15

n/a | 54%

SDQ*

33

 

 Emotional symptoms

1

3.0%

 Conduct problems

2

6.1%

 Hyperactivity

21

63.6%

 Peer relations difficulties

22

66.7%

 Difficulties with prosocial behaviour

28

84.8%

 Total

17

51.5%

  1. *Language: We used 3 years as the developmental threshold for language acquisition, and only considered participants over this age for descriptive purposes to better distinguish delay in acquisition from absence of speech. The remaining 6, however, were minimally verbal. *ADOS-2 (Autism Diagnostic Observation Scale-2): Calibrated severity scores indicate severity of autistic symptoms. *CBCL (Child Behavior Checklist): One version for children aged 1.5 to 5 years and another for children aged 6 to 18 with five shared subscales; values indicate individuals who scored over the cutoff for borderline clinical relevance. *SDQ (Strengths and Difficulties Questionnaire): Values indicate individuals who scored over the cutoff for borderline clinical relevance