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Table 4 Comparison with past literature

From: Prospective and detailed behavioral phenotyping in DDX3X syndrome

 

Current study

Snijders Blok, 2015

Wang, 2018

Beal, 2019

Lennox, 2020

Sample size (F,M)

14,1

38,0

28,0

6,0

104,3

ID

80%*

ID and/or other delays, 100%

ID and/or other delays, 100%

50%

ND

Motor delays

87%*

Speech/motor delays, 67%

ND

Speech delays

93%*

ND

ASD

60%*

One or more of ASD, hyperactivity, and aggression, 53%

ASD and/or other behavioral problems, 21%

One or more of ASD, hyperactivity, and aggression, 33%

21%

ADHD

53%*

15%

Generalized anxiety disorder

7%*

ND

ND

ND

ND

Visual motor integration abnormalities

54%*

ND

ND

ND

ND

Abnormal expressive language1

80%*

ND

ND

ND

ND

Abnormal receptive language2

73%*

ND

ND

ND

ND

Sensory symptoms

100%*

ND

ND

ND

ND

Gait disturbance/movement disorders

100%*

45%

61%

33%

ND

Hypotonia

93%*

76%

68%

0%

82%

Gastrointestinal abnormalities

80%

ND

ND

ND

ND

Ocular/vision abnormalities

73%*

34%

32%

50%

36%

Sleep disturbance

67%*

ND

ND

33%

ND

Abnormal brain MRI

86%*

57%

90%

25%

94%*

Corpus callosum abnormalities

64%*

35%

ND

25%

87%*

Polymicrogyria/cortical dysplasia

7%*

11%

ND

0%

12%*

Epilepsy/seizures

13%

16%

ND

17%

20%

Cardiac defects/disease

7%

ND

71%3

17%

15%

Precocious puberty

20%

13%

ND

0%

8%

  1. ND, Not Determined, F: Female; M: Male; ID: Intellectual disability; ASD: Autism spectrum disorder; ADHD: Attention-deficit/hyperactivity disorder; MRI: Magnetic resonance imaging
  2. *Prospectively assessed
  3. 1> 1.5 SD below the mean on the Expressive Vocabulary Test, Second Edition or could not complete
  4. 2> 1.5 SD below the mean on the Peabody Picture Vocabular Test, Fourth Edition or could not complete
  5. 35 of 7 individuals assessed