Table 1.
Clinical revision of FOXP1 patients.
| Symptoms | Palumbo 2013 | Le Fevre 2013 | Srivastava 2014 | Song 2015 | Lozano 2015 | Blanco-Sánchez 2015 | Sollis 2016 | Current Patient | Total |
|---|---|---|---|---|---|---|---|---|---|
| De novo mutation | + | 9/9 | + | + | + | + | 3/3 | + | 18/18 |
| Low birthweight | − | 0/2 | nd | + | nd | nd | nd | + | 2/5 |
| FTT or small for age | − | 1/5 | nd | − | nd | nd | nd | + | 2/8 |
| Obesity | − | 2/5 | nd | − | nd | nd | nd | − | 2/8 |
| Prominent forehead | + | 4/7 | nd | + | − | + | 2/3 | +(1) | 10/15 |
| Macrocephaly | − | nd | + | nd | + | − | 1/3 | mild | 4/8 |
| Hypertelorism | − | nd | nd | nd | − | nd | 2/3 | + | 3/6 |
| Down slanted palpebral fissures | + | 3/7 | nd | − | + | + | 1/3 | + | 8/15 |
| Short nose with broad tip | nd | 4/7 | nd | + | − | + | 2/3 | + | 9/14 |
| Frontal hair upsweep | nd | 2/7 | nd | + | − | + | nd | − | 4/11 |
| Prominent digit pads | nd | 2/7 | nd | − | nd | nd | nd | − | 2/9 |
| Single palmar creases | nd | 1/7 | nd | − | nd | nd | nd | − | 1/9 |
| Clinodactyly | nd | 1/7 | nd | − | nd | nd | nd | + | 2/9 |
| Congenital anomalies(2) | nd | 3/8 | nd | + | nd | nd | nd | + | 5/10 |
| Global delay | + | 9/9 | nd | + | + | + | 3/3 | + | 17/17 |
| Regression | nd | 1/2 | nd | - | nd | nd | nd | − | 1/4 |
| Intellectual delay | + | 8/8 | + | + | + | + | 3/3 | + | 17/17 |
| Motor delay | + | 8/8 | nd | + | + | + | 3/3 | + | 16/16 |
| Speech and language delay | + | 9/9 | nd | + | + | + | 3/3 | + | 17/17 |
| Expressive language more severely affected than receptive language | nd | 7/7 | nd | + | + | + | nd | + | 11/11 |
| Articulation problems | + | 5/5 | nd | − | + | nd | 3/3 | + | 11/12 |
| Poor grammar | nd | 4/4 | nd | − | + | nd | nd | + | 6/7 |
| ASD/PDD-NOS | + | 3/4 | nd | − | + | nd | 3/3 | + | 9/11 |
| Autism | + | 2/4 | nd | − | + | nd | 0/3 | − | 4/11 |
| Behavioral problems | + | 4/5 | nd | − | + | nd | 3/3 | + | 10/12 |
| ADHD and/or sensory processing disorders | + | nd | nd | − | + | nd | 2/3 | + | 5/7 |
| Hypertonia | nd | 1/2(3) | nd | − | − | nd | 0/3 | + | 2/8 |
| Hypotonia | + | 1/2(3) | + | nd | + | nd | 3/3 | − | 7/9 |
| Reflexes | nd | 1/2 | nd | − | nd | nd | nd | + | 2/4 |
| Seizures | nd | 2/6 | nd | − | nd | nd | nd | − | 2/8 |
FTT: Failure to Thrive; ASD: Autistic Spectrum Disorders; PDD-NOS: Pervasive Developmental Disorder Not Otherwise Specified; ADHD: Attention Deficit Hyperactivity Disorder; nd = no data. (1)The patient presented with trigonocephaly. (2)Including: contractures, spina bifida, Chiari 1 malformation, jejunal and ileal atresia, bilateral inguinal hernia25, bilateral cryptorchidism, horseshoe kidney (current patient) and hyperextension of the joins26. (3)One patient in Carr et al.21 presented with decreased axial tone and increased peripheral tone.