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Table 1 CDD cohort: clinical characteristics and the modalities by which each proband was studied

From: Neurogenetic analysis of childhood disintegrative disorder

Subject

Sex

Age at onset (months)

Anxiety prodrome

Multiple regressions

Length of regression (months)a

Level of ID

IQ

Cognitive/developmental testb

Language loss

Social or adaptive loss

Incontinence

Play loss

Motor skills loss

Seizures

10 relative with ASD

Genetics

fMRI

ET

Age at fMRI, ET (months)

CDD03-03

M

30

No

No

5

Profound

18

Mullen

Yes

Yes

Yes

Yes

Yes

No

No

Yes

No

No

n/a

CDD05-03

M

37

Yes

No

9

Severe

16

Mullen

Yes

Yes

Yes

Yes

Yes

Yes

No

Yes

Yes

Yes

176

CDD07-03

M

45

Yes

No

4

Profound

9

Mullen

Yes

Yes

Yes

Yes

Yes

No

No

Yes

No

No

n/a

CDD08-03

M

80

Yes

Yes

3

Moderate

46

DAS

Yes

Yes

No

Yes

Yes

No

No

Yes

Yes

Yes

139, 154

CDD09-03

M

44

No

No

6

Mild

64

DAS

Yes

Yes

No

Yes

No

No

No

Yes

Yes

No

52

CDD10-03

M

38

Yes

No

3

Profound

19

Mullen

Yes

Yes

Yes

Yes

Yes

No

No

Yes

No

Yes

122

CDD11-03

M

40

Yes

No

4

Profound

8

Mullen

Yes

Yes

No

Yes

Yes

No

No

Yes

Yes

No

206

CDD12-03

F

36

Yes

No

3

Severe

33

Mullen

Yes

Yes

Yes

Yes

Yes

No

No

Yes

No

Yes

87

CDD13-03

F

31

No

No

80

Profound

18

Mullen

Yes

Yes

Yes

Yes

Yes

No

MZ twin (CDD)c

Yes

Yes

Yes

92

CDD13-04

F

28

No

Yes

4

Profound

16

Mullen

Yes

Yes

Yes

Yes

Yes

No

MZ twin (CDD)c

Yes

Yes

No

92

CDD15-03

M

84

Yes

Yes

2

Severe

n/a

n/a

Yes

Yes

Yes

Yes

No

No

No

Yes

No

No

n/a

CDD16-03

M

53

Yes

Yes

6

Moderate

n/a

n/a

Yes

Yes

Yes

Yes

No

No

Brother (ASD)

Yes

No

No

n/a

CDD17-03

M

68

Yes

No

3

Moderate

44

DAS

Yes

Yes

No

Yes

No

No

Father (autistic features)

Yes

No

No

n/a

CDD19-03

M

31

No

No

24

Severe

26

Mullen

Yes

Yes

No

Yes

No

No

Brother (autistic features)

No

Yes

No

60

CDD20-03

M

51

Yes

Yes

9

Mild

74

DAS

Yes

Yes

Yes

Yes

No

No

MZ twin (ASD)

Yes

No

No

n/a

CDD21-03

F

30

Yes

No

5

Severe

30

Mullen

Yes

Yes

No

Yes

Yes

No

No

Yes

No

No

n/a

CDD22-03

M

48

Yes

No

4

Severe

30

Leiter

Yes

Yes

Yes

Yes

Yes

No

No

Yes

No

No

n/a

  1. Abbreviations: ASD autism spectrum disorder, CDD childhood disintegrative disorder, DAS Differential Ability Scales, ET eye tracking, F female, fMRI functional magnetic resonance imaging, ID intellectual disability, IQ intelligence quotient, M male, MZ monozygotic
  2. aIf multiple regressions occurred, the number indicates the length of the first period of regression
  3. bFor subjects who received the Mullen Scales, their full-scale IQ is based on a ratio IQ
  4. cSubjects CDD13-03 and 13-04 are monozygotic twin girls with CDD who are counted as one proband for the genetics studies