Table 1. One individual with a CHD8 (01) and three individuals with CHD7 (02 to 04) pathogenic mutations, seen at a sleep clinic, also reported difficulties falling asleep and night awakenings.
Quantitative sleep parameters from parent-reported sleep-wake diaries confirmed these complaints: SOL and WASO were increased, and SE was decreased. Values in bold are deviating from established healthy reference values (68, 79, 80). See also Fig. 1, fig. S1, and tables S1 and S2.
| Individuals | 01 | 02 | 03 | 04 |
| Gender | Male | Female | Female | Female |
| Age of examination (years) | 4 | 3 | 8 | 19 |
| Molecular diagnosis | CHD8 | CHD7 | CHD7 | CHD7 |
| c.4062 + 5G > C | c.4493_4506del | c.2643 T > A | c.5181 > G | |
| p.(Ser1350fs) | p.(lle1498fs) | p.(Tyr881*) | p.(Tyr1727*) | |
| Main sleep complaints | Difficulty falling asleep | Difficulty falling asleep | Difficulty falling asleep | Difficulty falling asleep |
| Night awakenings | Night awakenings | Night awakenings | Night awakenings | |
| ICSD-3 diagnosis | Chronic insomnia | Chronic insomnia | Chronic insomnia | Chronic insomnia; Sleep-related rhythmic movement disorder |
| Sleep-wake diaries characteristics | ||||
| Days measured | 14 | 14 | 7 | 16 |
| TIB (min) | 715.7 | 677.1 | 762.9 | 647.8 |
| Total sleep time (min) | 474.6 | 559.3 | 514.3 | 400.3 |
| SOL (min) | 0 | 20.4 | 160.7 | 197.8 |
| WASO (min) | 241.1 | 97.5 | 87.9 | 49.7 |
| SE (%) | 66.7 | 82.5 | 67.6 | 61.7 |