Table 1 Cognitive and developmental assessments at age 10

From: 1q21.1 microduplication: large verbal–nonverbal performance discrepancy and ddPCR assays of HYDIN/HYDIN2 copy number

Wechsler intelligence scale for children-IV

Scores

Comment

 Verbal comprehension index

126 (96th %ile)

Superior range

  Similarities

16

(average range 8–12 on

all WISC-IV subtests)

  Vocabulary

10

  Comprehension

17

 Perceptual reasoning index

111 (77th %ile)

High average range

  Picture completion

10

  Block design

12

  Matrix reasoning

13

 Working memory index

70 (2nd %ile)

Borderline range

  Digit span

5

  Digit letter sequences

5

 Processing speed index

69 (2nd %ile)

Impaired range

  Coding

1

Autism diagnostic interview - revised

 Social domain

8

Based on historical report for age 5. Only the Developmental domain is abnormal.

 Communication domain and language

3

 Stereotyped behavior domain

3

 Developmental domain

5

Test of everyday attention for children

<5%

 

 Selective visual attention

<4%

Notable impairment of attention and capacity for inhibition

 Sustained attention

<2%

 Divided attention and intermodal processing

<2%

 Inhibition

<2%

 Attention control–cognitive flexibility

<3%

Oral and written language, memory, attention

 Auditory verbal memory (L2MA)

  

  Word recall

−2.1 SD

Short- and long-term memory impairments

  Word recall with visual cues

−5.6 SD

  Deferred word recall

−4.1 SD

  Sentence recall

−1.7 SD

 Phonology–naming/word repetition (N-EEL)

 

Performance at age 10 consistent with child at age 6

  Monosyllabic A

−5 < x < −2.44 SD

  Monosyllabic B

−5 < x < −3.5 SD

  Plurisyllabic

−5 < x < − 5.1 SD

 Lexical reception and production (L2MA)

  Lex P

−1.3 SD

 

  Phonemic fluency

−2.8 SD

  Semantic fluency

−1.4 SD

  Antonyms

−1.2 SD

 Expression (ELO)

  Utterance production

−1 SD

 

  Sentence repetition

−5 SD

 

Motor skills—NEPSY

Scaled scores; expected ≥8

 Fingertip tapping

7

Heterogeneous profile with slow and imprecise motor coordination

 Design copying

9

 Manual motor sequences

8

 Imitation of hand position

8

 Visual motor precision

3

 Finger discrimination

8

 Block construction

8

Logical and mathematical abilities—UDN-II

 Developmental age 9–11, all subscales

Normal range

Psychomotor assessment

 Motor level and coordination (M-ABC)

−5.71 SD

 

 Hands movements imitation (EMG)

−5.29 SD

 Fingers movements imitation (EMG)

+0.64 SD

 Time and spatial organization (Bender)

DA = 6.5 years

Geometry—REY-A FIGURE

Visual- and spatial-integration

<2nd percentile

Visual- and spatial-memory skills

<2nd percentile

  1. WISC – IV Wechsler intelligence scale for children – IV27
  2. ADI-R autism diagnostic interview-revised28
  3. TEA-Ch test of everyday attention for children29
  4. L2MA spoken language, written language, memory, attention 30
  5. N-EEL new tests for language assessment31
  6. ELO oral language assessment32
  7. NEPSY developmental NEuropsychological assessment33
  8. UDN-II construction et utilisation du nombre-234
  9. SD standard deviation
  10. DA developmental age
  11. M-ABC movement assessment battery for children35
  12. EMG evaluation de la motricité gnosopraxique distale36
  13. Bender visual-motor test37
  14. Rey-A Rey–Osterrieth complex figure test38