Table 7. Finding associated with complex I under and over activity.
Complex IUnderactivity | Complex IOveractivity | |
---|---|---|
Development | ||
ASD | 44% (4/9) | 75% (3/4) |
Regression | 63% (5/8) | 100% (4/4) |
Loss of Language | 80% (4/5) | 75% (3/4) |
Loss of Social Skills | 40% (2/5) | 100% (4/4) |
Loss of Gross Motor Skills | 60% (3/5) | 0% (0/4) |
Loss of Fine Motor Skills | 80% (4/5) | 25% (1/4) |
Proximal Trigger | 80% (4/5) | 0% (0/4) |
ASD Regression Typical Age | 20% (1/5) | 75% (3/4) |
Mean (SD) Age at Regression | 63 m (29 m) | 27 m (16 m) |
Multiple Regressions | 60% (3/5) | 25% (1/4) |
Gene Deletion | ||
TRMU | 38% (3/8) | 0% (0/3) |
SCO2/TYMP/CPT1B | 88% (7/8) | 100% (3/3) |
SHANK3 | 100% (8/8) | 66% (2/3) |
Gastrointestinal problems | ||
Vomiting1 | 0% (0/8) | 0% (0/4) |
Gastroesophageal Reflux1 | 43% (3/7) | 25% (1/4) |
Diarrhea1 | 33% (3/9) | 50% (2/4) |
Constipation1 | 88% (7/8) | 25% (1/4) |
Abdominal pain1 | 50% (3/6) | 0% (0/4) |
Feeding Problems1 | 56% (5/9) | 50% (2/4) |
Growth Problems | ||
Failure to Thrive2 | 44% (4/9) | 25% (1/4) |
Short Stature2 | 44% (4/9) | 0% (0/4) |
Tall Stature2 | 22% (2/9) | 25% (1/4) |
Obese2 | 22% (2/9) | 0% (0/4) |
Microcephaly2 | 22% (2/9) | 0% (0/4) |
Macrocephaly2 | 22% (2/9) | 25% (1/4) |
Constitutional | ||
Heat Intolerance2 | 89% (8/9) | 75% (3/4) |
Lack of Sweating2 | 67% (6/9) | 50% (2/4) |
Exercise Intolerance2 | 63% (5/8) | 25% (1/4) |
Fatigue2 | 33% (3/9) | 0% (0/4) |
Weakness1 | 25% (2/8) | 0% (0/4) |
Neurosensory | ||
Vision Problems1 | 38% (3/8) | 0% (0/4) |
Hearing Problems1 | 0% (0/9) | 0% (0/4) |
Headache1 | 0% (0/3) | 50% (2/4) |
Seizure2 | 63% (5/8) | 25% (1/4) |
Tics2 | 11% (1/9) | 25% (1/4) |
Strabismus2 | 44% (4/9) | 0% (0/4) |
Psychiatric Problems | ||
Bipolar Disorder2 | 0% (0/5) | 0% (0/4) |
Anxiety Disorder2 | 29% (2/7) | 50% (2/4) |
Obsessive-Compulsive Disorder2 | 44% (4/9) | 25% (1/4) |
Attention Deficit Hyperactivity DO2 | 67% (6/9) | 25% (1/4) |
1Current or Previous with Moderate or Severe Severity.
2Current or Previous with Any Severity.