Table 2

Subgroup analysis of monogenic FOXP1 defects versus interstitial deletions

Characteristics3p deletionMonogenicp Value
Sex (male:female)9:525:90.728NS
Mild/moderate motor delay3/1225%27/3382%0.001<0.05
Severe motor delay9/1275%4/3312%0.000<0.05
Mild/moderate intellectual disability3/1030%25/3376%0.019<0.05
Severe intellectual disability7/1070%7/3321%0.007<0.05
Speech and language delay9/9100%33/33100%
Expressive language delay6/6100%23/2496%1.000NS
Articulation problems3/3100%16/1889%1.000NS
Poor grammar0/10%9/1090%0.182NS
Oromotor dysfunction3/475%11/2348%0.596NS
Behavioural difficulties1/333%21/2972%0.224NS
Autistic features4/580%20/2774%1.000NS
Abnormal tonicity11/1292%15/2365%0.121NS
Spasticity/contractures12/1392%6/1638%0.006<0.05
Abnormal reflexes5/956%3/1619%0.087NS
Seizures2/922%5/2421%1.000NS
Abnormal brain imaging9/1275%12/2548%0.166NS
Abnormal electroencephalography0/70%4/1429%0.255NS
Failure to thrive9/1182%6/2623%0.002<0.05
Feeding difficulties12/1392%12/2255%0.027<0.05
Obesity0/70%2/277%1.000NS
Broad, prominent forehead8/989%26/3087%1.000NS
Frontal hair upsweep3/933%12/2941%1.000NS
Hypertelorism9/1275%11/2839%0.082NS
Downslanting palpebral fissures4/850%17/3057%1.000NS
Bent palpebral fissures1/425%4/1233%1.000NS
Ptosis5/771%17/2665%1.000NS
Blepharophimosis3/933%2/268%0.095NS
Short nose8/989%19/3063%0.228NS
Broad nose tip6/967%22/3073%0.693NS
Pronounced nasolabial folds2/729%9/2635%1.000NS
Wide mouth with full lips1/128%15/2658%0.005<0.05
Pronounced vermilion border4/580%12/1771%1.000NS
Downturned corners of the mouth6/875%12/2646%0.233NS
Open mouth4/757%14/2264%1.000NS
Prominent chin3/560%6/1735%0.609NS
Horizontal chin crease3/560%7/1741%0.624NS
Hypoplastic upper ear helix5/1145%3/2612%0.035<0.05
Prominent finger pads0/50%4/2715%1.000NS
Single palmar crease6/1060%7/2627%0.119NS
Clinodactyly4/944%4/2615%0.162NS
Ophthalmological abnormalities9/1182%18/2475%1.000NS
Auditory abnormalities5/683%0/140%0.000<0.05
Cardiac abnormalities8/1173%6/1540%0.130NS
Renal abnormalities0/30%1/911%1.000NS
Genitourinary tract abnormalities8/1080%8/1942%0.114NS
  • NS, not significant.