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Table 2 DSM-5 clinical diagnoses, intellectual level and autism symptoms. (N = 70, unless otherwise specified)

From: Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid Syndrome

Variable (sample size)

N

%

DSM-5 clinical diagnoses:

Intellectual Disability

69

98.6%

Motor Coordination Disorder/ Dyspraxia

65

92.9%

Autism Spectrum Disorder

20

28.6%

Bipolar Disorder

current

10

14.3%

lifetime

12

17.1%

ADHD

8

11.4%

Oppositional Defiant Disorder

2

2.9%

Depression

1

1.4%

Generalized anxiety, panic disorder, simple phobia

1

1.4%

Obsessive–Compulsive Disorder

1

1.4%

Intellectual level

Borderline (70–79)

1

1.4%

Cognitive disability (IQ < 70)

5

7.1%

Not testable

64

91.4%

DSM-5 ASD severity level

(N = 20)

Requiring support

4

20.0%

Requiring substantial support

8

40.0%

Requiring very substantial support

8

40.0%

ADOS-2 diagnosis

(N = 39)

Out of the spectrum

14

35.9%

ASD spectrum NOT autism

7

17.9%

Autism

18

46.2%

ADI-R B: verbal / non-verbal

(N = 47)

Non-verbal

34

72.3%

Verbal

13

27.7%

Motor stereotypies

Absent

13

18.6%

Present

57

81.4%

Insistence on sameness

Absent

26

37.1%

Present

44

62.9%

Restricted interests

Absent

43

61.4%

Present

27

38.6%

Sensory hypersensitivity

(N = 69)

No hypersensitivity

47

68.1%

Hypersensitivity to sound

18

26.1%

Hypersensitivity to touch

2

2.9%

Both sound and touch or other senses

2

2.9%

Pain sensitivity

Normal or increased

14

20.0%

Decreased

56

80.0%

Self-stimulation

Absent

20

28.6%

Visual

2

2.9%

Auditory

3

4.3%

Tactile

6

8.6%

Taste/smell

21

30.0%

Mixed (two or more sensory channels)

18

25.7%

  1. ADI-R Autism Diagnostic Interview – Revised, ADOS Autism Diagnostic Observation Schedule, DSM Diagnostic and Statistical Manual of Mental Disorders