Table 1.
CDD cohort: clinical characteristics and the modalities by which each proband was studied
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 |
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
aIf multiple regressions occurred, the number indicates the length of the first period of regression
bFor subjects who received the Mullen Scales, their full-scale IQ is based on a ratio IQ
cSubjects CDD13-03 and 13-04 are monozygotic twin girls with CDD who are counted as one proband for the genetics studies