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Table 1 Clinical presentations of all patients recruited in this study

From: Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism

Patient ID Sex First assessment (years) Most recent assessment (years) HC (z-score) DQ ASD Developmental problem(s) Other clinical features MRI findings Gene
1 M 3.0 5.2 3.6 75   Mild GDD with severe language delay 2/3/4 syndactyly MEG, PG, VM, PWMSA PIK3CA
2 M 1.5 4.1 3.2 55   Moderate GDD Mild 2/3 syndactyly MEG, PG, PWMSA PIK3CA
3 M 0.8 1.6 5.9 50*   Moderate GDD Recurrent respiratory infections, hypoglycaemia MEG, PG, VM, PWMSA PTEN
4 M 2.3 6.5 4.0 73 Suspected ASD Mild GDD NA MEG, PG, PWMSA PTEN
5 M 0.4 0.7 6.7 62*   Mild GDD Liver haemangioma MEG, PG, VM, PWMSA MTOR
6 M 2.7 8.2 4.5 80 ASD Mild GDD 2/3 syndactyly NA PTEN
7 M 2.0 11.6 2.6 49 ASD Moderate GDD, mild ID Hypertelorism, epilepsya MEG PPP2R5D
8 M 1.8 5.3 2.2 54 Suspected ASD Moderate GDD, mild ID Hypertelorism, epilepsyb MEG PPP2R5D
9 M 2.0 3.5 3.5 62 ASD Mild GDD with moderate language delay Left lower limb hypertrophy with 2/3 syndactyly MEG PIK3CA
10 M 2.6 6.0 3.4 68   Mild GDD Frontal bossing MEG PTEN
11 M 4.4 10.1 3.4 95 ASD Language delay z-scores for height: 3.0; weight: 5.6 Normal Negative
12 M 2.3 6.3 3.3 79 ASD Borderline delay with language delay Left ptosis, scoliosis Dilated cisterna magna, relative atrophy of the right cerebellar hemisphere Negative
13 F 9.8 10.3 3.1 NA ASD   NA Normal Negative
14 F 1.6 7.3 3.3 75   Borderline delay with language delay Intra-cranial haemorrhage in the perinatal period Aqueduct stenosis with hydrocephalus Negative
15 F 4.0 6.0 4.2 90* ASD Language delay NA NA Negative
16 M 2.2 23.4 3.2 71 ASD Borderline delay NA NA Negative
17 M 1.8 14.4 4.8 84 ASD Borderline delay Epilepsyc Normal Negative
18 F 2.4 6.2 2.2 78   Borderline delay NA NA Negative
19 M 2.0 19.8 2.1 50* ASD Moderate GDD, moderate ID Epilepsyd NA Negative
20 M 2.0 2.3 2.8 67   Mild GDD NA Dilated ventricles with external hydrocephalus Negative
21 M 2.4 10.8 3.0 72   Mild GDD Cleft lip and palate, nasal deformity Normal Negative
  1. *Estimated DQ scores
  2. aEpilepsy: onset at 4 years of age, generalised tonic-clonic seizure
  3. bEpilepsy: onset at 4 days of age, generalised epileptic spasm
  4. cEpilepsy: onset at 11 months, focal seizure with impaired awareness
  5. dEpilepsy: onset 11 years of age, generalised tonic-clonic seizure
  6. MEG megalencephaly, PG polymicrogyria, VM ventriculomegaly, PWMSA periventricular white matter signal abnormalities, NA not available