Table 1 Study cohort characteristics obtained through review of medical records and parent survey responses

3

F

c.1250A>G

X

PTL, SS

3.5

M

Not tested

X

X

PTL, SS

X

2 years

4

M

Not tested

X

X

PTL, C, MW, AG

X

2 years

OCD, sensory processing disorder

4.4

F

c.1259G>C

X

X

PTL

4.6

M

c.892G>A

X

4.9

F

c.1133A>T

X

X

PTL

5.3

M

c.407G>A; c.984_986delCTT; *c.818C>T

X

PTL, SS

X

1 year

5.5

F

Not available

X

PTL, C, MW

X

2 years (tapered off)

5.6

F

c.1133A>T

X

PTL, LBMD, SS

Anxiety

5.6

F

c.1171delC; c.406C>T

PTL, SS, BLB, R, MW, AG

X

5.5 years

5.8

F

c.1133A>T

X

X

PTL, BLB

5.9

F

c.407G>A; *c.1213>C

X

X

PTL, SS, BLB, R, MW, AG

X

2 years

5.9

M

c.1133A>T

X

X

PTL, LBMD

Anxiety

6

F

c.1471G>A; *c.1327G>T

X

PTL, C, CD, BLB

X

4 years

6.2

M

c.1133A>T

X

X

PTL

6.6

M

c.881A>C

X

SS, CD, MW

Autism spectrum disorder

7.7

M

c.1142A>G

X

PTL

Depression, disruptive behavior

7.7

M

c.976G>C

X

SS

Dyslexia

7.9

F

c.571G>A

PTL

8

F

Not available

X

PTL, CD, BLB, MW, AG

X

2.6 years

8.8

F

c.920C>T; c.1171C>T

PTL, LBMD, SS, CD, BLB, F, R, C, MW, AG

X

8.5 years

9.5

M

c.346G>A; c.571G>A

PTL, LBMD, CD, R, MW, AG

X

2.6 years

10.4

M

c.1250A>G

X

X

PTL, MW

10.5

M

*c.1157G>A

X

F, MW, AG

ADHD, disruptive behavior

13.2

M

Not available

X

PTL, SS, CD, BLB, R, C, MW, AG

X

8 years

13.3

M

c.340G>A

X

PTL, F, AG

X

Not available

ADHD, OCD, anxiety

13.6

M

Not available

X

PTL, BLB, F, R, MW, AG

X

0.8 year

13.6

F

Not available

X

X

PTL, SS, CD, BLB, R, MW, AG

X

6 years

15.4

M

Not tested

X

X

PTL, LBMD, R, MW, AG

X

1.6 years

Depression, dyslexia

16.6

F

c.526G>A; *c.371A>G

X

X

PTL, MW, AG