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. 2017 Dec 28;19(1):82. doi: 10.3390/ijms19010082

Table 2.

Summary assessment of neurobehavioral tests.

Cognitive Profile GM13-3816, c.15061C=/>T, p.R5021X KB450, c.13450C=/>T (p.R4484X) KB369, c.3596_3597=/Del (p.L1199HfsX7)
Cognitive Profile
WISC III/IV TIQ
87		 VCI
108		 PRI
87		 WMI
82		 PSI
76		 TIQ
84		 VCI
76		 PRI
87		 WMI
91		 PSI
74		 TIQ *
46		 VIQ *
58		 PIQ *
46
Adaptive Behavior
ABAS II GAC
65		 CON
65		 SO
81		 PR
68		 GAC
115		 CON
112		 SO
108		 PR
120		 GAC
68		 CON
72		 SO
88		 PR
58
Learning Abilities
Reading skills: MT-2 task Speed: <2 s.d., Accuracy: <2 s.d. Speed: <1 s.d., Accuracy: <1 s.d. Not measurable
Writing skills: BVSCO-2 task Accuracy: <2 s.d. Accuracy: <2 s.d. Not measurable
Reading comprehension skills: MT-2 task Accuracy: <2 s.d. Accuracy: <1 s.d. Not measurable
Psychopathological profile
K-SADS and psychiatric evaluation
  • √

    Generalized anxiety disorder

  • √

    Multiple phobias (bugs, fireworks, loud noises)

  • √

    Bizarre behavior (soliloquy)

  • √

    Emotional dysregulation
  • √

    Mild emotional dysregulation
  • √

    Generalized anxiety disorder

  • √

    Multiple phobias (stuffed animals, dolls and some real animals)

  • √

    Bizarre behavior (soliloquy)

  • √

    Autistic like behavior

TIQ: total intelligence quotient, VCI: Verbal Comprehension Index, PRI: Perceptual Reasoning Index, WMI: Working Memory Index, PSI: Processing Speed Index, GAC: general adaptive composite, CON: conceptual, SO: social, PR: practical, s.d.: standard deviation, VIQ: verbal intelligence quotient, PIQ: performance intelligence quotient. * Performed with WISC III.