Subgroup analysis of monogenic FOXP1 defects versus interstitial deletions
Characteristics | 3p deletion | Monogenic | p Value | |||
Sex (male:female) | 9:5 | 25:9 | 0.728 | NS | ||
Mild/moderate motor delay | 3/12 | 25% | 27/33 | 82% | 0.001 | <0.05 |
Severe motor delay | 9/12 | 75% | 4/33 | 12% | 0.000 | <0.05 |
Mild/moderate intellectual disability | 3/10 | 30% | 25/33 | 76% | 0.019 | <0.05 |
Severe intellectual disability | 7/10 | 70% | 7/33 | 21% | 0.007 | <0.05 |
Speech and language delay | 9/9 | 100% | 33/33 | 100% | – | – |
Expressive language delay | 6/6 | 100% | 23/24 | 96% | 1.000 | NS |
Articulation problems | 3/3 | 100% | 16/18 | 89% | 1.000 | NS |
Poor grammar | 0/1 | 0% | 9/10 | 90% | 0.182 | NS |
Oromotor dysfunction | 3/4 | 75% | 11/23 | 48% | 0.596 | NS |
Behavioural difficulties | 1/3 | 33% | 21/29 | 72% | 0.224 | NS |
Autistic features | 4/5 | 80% | 20/27 | 74% | 1.000 | NS |
Abnormal tonicity | 11/12 | 92% | 15/23 | 65% | 0.121 | NS |
Spasticity/contractures | 12/13 | 92% | 6/16 | 38% | 0.006 | <0.05 |
Abnormal reflexes | 5/9 | 56% | 3/16 | 19% | 0.087 | NS |
Seizures | 2/9 | 22% | 5/24 | 21% | 1.000 | NS |
Abnormal brain imaging | 9/12 | 75% | 12/25 | 48% | 0.166 | NS |
Abnormal electroencephalography | 0/7 | 0% | 4/14 | 29% | 0.255 | NS |
Failure to thrive | 9/11 | 82% | 6/26 | 23% | 0.002 | <0.05 |
Feeding difficulties | 12/13 | 92% | 12/22 | 55% | 0.027 | <0.05 |
Obesity | 0/7 | 0% | 2/27 | 7% | 1.000 | NS |
Broad, prominent forehead | 8/9 | 89% | 26/30 | 87% | 1.000 | NS |
Frontal hair upsweep | 3/9 | 33% | 12/29 | 41% | 1.000 | NS |
Hypertelorism | 9/12 | 75% | 11/28 | 39% | 0.082 | NS |
Downslanting palpebral fissures | 4/8 | 50% | 17/30 | 57% | 1.000 | NS |
Bent palpebral fissures | 1/4 | 25% | 4/12 | 33% | 1.000 | NS |
Ptosis | 5/7 | 71% | 17/26 | 65% | 1.000 | NS |
Blepharophimosis | 3/9 | 33% | 2/26 | 8% | 0.095 | NS |
Short nose | 8/9 | 89% | 19/30 | 63% | 0.228 | NS |
Broad nose tip | 6/9 | 67% | 22/30 | 73% | 0.693 | NS |
Pronounced nasolabial folds | 2/7 | 29% | 9/26 | 35% | 1.000 | NS |
Wide mouth with full lips | 1/12 | 8% | 15/26 | 58% | 0.005 | <0.05 |
Pronounced vermilion border | 4/5 | 80% | 12/17 | 71% | 1.000 | NS |
Downturned corners of the mouth | 6/8 | 75% | 12/26 | 46% | 0.233 | NS |
Open mouth | 4/7 | 57% | 14/22 | 64% | 1.000 | NS |
Prominent chin | 3/5 | 60% | 6/17 | 35% | 0.609 | NS |
Horizontal chin crease | 3/5 | 60% | 7/17 | 41% | 0.624 | NS |
Hypoplastic upper ear helix | 5/11 | 45% | 3/26 | 12% | 0.035 | <0.05 |
Prominent finger pads | 0/5 | 0% | 4/27 | 15% | 1.000 | NS |
Single palmar crease | 6/10 | 60% | 7/26 | 27% | 0.119 | NS |
Clinodactyly | 4/9 | 44% | 4/26 | 15% | 0.162 | NS |
Ophthalmological abnormalities | 9/11 | 82% | 18/24 | 75% | 1.000 | NS |
Auditory abnormalities | 5/6 | 83% | 0/14 | 0% | 0.000 | <0.05 |
Cardiac abnormalities | 8/11 | 73% | 6/15 | 40% | 0.130 | NS |
Renal abnormalities | 0/3 | 0% | 1/9 | 11% | 1.000 | NS |
Genitourinary tract abnormalities | 8/10 | 80% | 8/19 | 42% | 0.114 | NS |
NS, not significant.