Table 3.
Clinical correlation of patient characteristics with FOXG1 syndrome
| Clinical Findings | Patient | Published FOXG1 cases19,25 |
|---|---|---|
| Pregnancy/Birth Parameters | Normal pregnancy/birth | Normal pregnancy/birth |
|
| ||
| Growth Parameters | Microcephaly noted at 3 months (−5.2 SD at present) | Deceleration of OFC noted before 1yo Microcephaly |
|
| ||
| Development | Absent speech | Absent speech |
| Sits/stands with support | Late or absent sitting/walking | |
| Absent walking | ||
|
| ||
| Brain abnormalities | Partial agenesis of the corpus callosum Hypomyelination of the subcortical white matter involving frontal and temporal loves Prominent perivascular spaces |
Hypogenesis/agenesis of corpus callosum Reduced white matter volume Simplified gyral pattern, pachygyria |
|
| ||
| Behavior/sleep | Insomnia | Poor sleep |
| Excess irritability and crying | ||
| Inappropriate laughing | ||
|
| ||
| Motor/dyskinesias | Episodic myoclonic jerks Complex spells of brief dystonic posturing +/− repetitive myoclonus Tongue protrusions Hand stereotypies Drooling |
Dyskinesias (chorea, dystonia) Spasticity Stereotypic hand movements Drooling Bruxism |
|
| ||
| Seizures/Epilepsy | Infantile spasms | Seizures |
| EEGs: no epileptic activity | ||
|
| ||
| Gastrointestinal/Respiratory | Severe GERD | GERD |
| Constipation | Constipation | |
| Feeding difficulty | Feeding difficulties | |
| Obstructive sleep apnea | Obstructive sleep apnea | |
| Aspiration | ||
|
| ||
| Musculoskeletal | Truncal hypotonia | Hypotonia |
| Pectus excavatum | Kyphosis | |
| Pes planus | ||
|
| ||
| Ophthalmologic | Strabismus | Strabismus |
| Nystagmus | ||