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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