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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