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Table 7 Medical exams

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

Variable (Sample size)

N

%

EEG abnormalities

(N = 68)

Normal EEG

34

50.0%

Aspecific abnormalities

18

26.5%

Pathological EEG

16

23.5%

Brain imaging

(N = 67)

Normal MRI

14

20.9%

Abnormal MRI

53

79.1%

Tympanogram

(N = 31)

Type A (normal)

21

67.8%

Type B (mono-ear)

3

9.6%

Type B (bi-ears)

2

6.5%

Type C (mono-ear)

2

6.5%

Type C (bi-ears)

3

9.6%

Brainstem auditory evoked potentials (BAEP)

(N = 51)

Normal

45

88.2%

Deafness (mono-ear)

2

3.9%

Prolonged Latency Wave (bi-ears)

3

5.9%

Deafness (bi-ears)

1

2.0%

EKG

(N = 63)

Normal

57

90.4%

Abnormal

6

9.5%

Cardiac ultrasound

(N = 60)

Normal

48

80.0%

Patent Foramen Ovale

2

3.3%

Others

9

15.0%

Mixed (2 or more abnormalities)

1

16.7%

Abdominal ultrasound

(N = 65)

Normal

27

41.5%

Abnormal

38

58.5%

• Kidney and urinary tract

19

29.2%

• Liver

6

9.2%

• Uterus

2

3.0%

• Ovary

4

6.1%

• Spleen

4

6.1%

• Mixed (2 or more organs)

3

4.6%

Kidney malformations or stones

(N = 64)

Normal

42

65.6%

Kidney stones only

4

6.3%

Malformations of the kidney or urinary tract

18

28.1%

Ophthalmology visit

(N = 54)

Normal

25

46.3%

Astigmatism

12

22.2%

Myopia

3

5.6%

Hyperopia

1

1.9%

Mixed (2 or more)

4

7.4%

Others

6

11.1%

Strabismus

3

5.6%

Fundus oculi

(N = 53)

Normal

48

90.6%

Abnormal

5

9.4%

Thelarche / pubarche

(N = 61)

Normal maturation

56

91.8%

Premature

5

8.2%