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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