Table 1 Quantification of developmental, cognitive and autism phenotypes of MECP2 duplication-containing patients

Age at examination

9 years 5 months

18 years

Bayley Scales of Infant Development-3

Developmental age

9 months

6 months

Receptive language

15 months

11 months

Expressive language

6 months

5 months

Fine motor

15 months

12 months

Gross motor

15 months

15 months

Weschler Intelligence Scale

Verbal IQ

< 40

< 36

Performance IQ

< 40

< 14

Full Scale IQ

< 40

< 24

Autism Diagnostic Observation Schedule (ADOS) scores

ADOS communication score

6

5

(cutoff score for autism is ≥4)

ADOS social interaction score

14

12

(cutoff score for autism is ≥7)

Combined ADOS score (cutoff score for autism is ≥12)

20

17