Table 1

Clinical data for patients with deletion 14q12 or FOXG1 mutations

This report N=11Literature1–5 9–13 N=15
FOXG1 mechanism4 CYTO, 7 intragenic5 CYTO, 10 intragenic
Subject demographics
 Sex5 female:6 male14 female:1 male
 Age last follow-up2 years to 31 years10 months to 22 years
Growth
 Weight birth (%)10/10 normal (10–90%)15/15 (10–90%)
 Length birth (%)9/9 normal (10–75%)14/14 (25–90%)
 OFC birth (SD)5/7 (0 to −2 SD); 2/7 (–2.5 SD)4/14 (+1 to 0 SD); 10/13 (0 to −2)
 Weight age 1–2 years (SD), age5/6 (−1.5 to −2.6 SD); 1/6 25%Insufficient data
 Length age 1–2 years (SD), age5/6 (0 to −2 SD); 1/6 (–3.5 SD)Insufficient data
 OFC age 1–2 years (SD), age8/8 (−2.5 to −6 SD)Insufficient data
 Weight most recent (SD), age4/10 (−1 to −2 SD); 6/10 (–2 to −5.5 SD)6/9 (−1 to −2 SD); 3/9 (–3 SD)
 Length most recent (SD), age2/8 (−1 to −2 SD); 5/8 (–2 to −5 SD)6/9 (−0 to −2 SD); 2/9 (–3.5 to −4)
 OFC most recent (SD), age9/9 (−2.5 to −5.5 SD)12/12 (−2 to −5 SD)
Development
 Developmental delay (DD)11/11 DD
 Mental retardation (MR)11/11 MR15/15 MR
 Mental retardation (severity)11/11 severe5/5 severe
 Speech–language development11/11 no language13/14 no language
 Social interaction (eye contact)10/10 poor7/9 poor
 Sitting (age)3/10 sit, all late3/13 sit
 Walking (age)1/11 walk, late1/15 walk
 Loss of psychomotor skills (age)2/11 vague history loss skills8–11 regression
Behaviour, sleep, autonomic
 Sleep pattern8/11 poor sleep pattern4/8 poor sleep pattern
 Irritability5/10 excess irritabilityInsufficient data
 Crying/weeping (inconsolable)6/10 excess crying3/6 excess crying
 Laughing (inappropriate)0/11 excess laughingInsufficient data
Motor and dyskinesias
 Hypotonia10/10 hypotonia6/6 hypotonia
 Spasticity7/9 spasticity1/2 insufficient data
 Functional hand use8/11 no hand use8/10 no hand use
 Stereotypic movements8/11 stereotypies10/10 stereotypies
 Dyskinesias (chorea, dystonia)8/10 dyskinesia (or all?)10/10 dyskinesia
 Strabismusinsufficient data9/9 strabismus
 Bruxism5/8 bruxism10/13 bruxism
 Drooling (sialorrhea)No data7/9 drooling
Epilepsy
 Seizures (age onset)8/10 seizures10/15 seizures (6 months to 14 years)
 Seizure types (specify)CPS, FTCS, GTCSCPS, GTCS, myoclonic
Gastrointestinal and respiratory systems
 Feeding difficulties9/11 poor feeding5/6 poor feeding
 Aspiration6/10 aspirationInsufficient data
 Gastro-oesophageal reflux (GER)9/10 GER often severe5/5 GER
 ConstipationInsufficient data6/6 constipation
 Breathing abnormalitiesNon-specific3/5 abnormal respirations
Other abnormalities
 Facial dysmorphism2/3 with deletions4/4 with deletions
 ScoliosisInsufficient data4/11 scoliosis
  • CPS, complex partial seizures; CYTO, cytogenetic abnormality; FTCS, focal tonic-clonic seizures; GER, gastro-oesophageal reflux; GTCS, generalised tonic-clonic seizures; OFC, occipitofrontal circumference.