A comparison of new cases with CDKL5 mutations identified in this study with those previously reported7,10–14,17 and the classical presentation of Rett syndrome18
| Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 | Patient 7 | |||
|---|---|---|---|---|---|---|---|---|---|
| *Infantile spasms status not known. | |||||||||
| †One patient never experienced seizures.14 | |||||||||
| CR, classic Rett syndrome; d, days; EE, epileptic encephalopathy; F, female; ISSX, X linked West syndrome; m, months; M, male; NK, not known; OFC, occipito-frontal head circumference; w, weeks; y, years; +, feature present; −, feature absent. | |||||||||
| Diagnosis | CR | CDKL5 | ISSX/autism | ISSX | EE | ISSX | EE* | EE | EE |
| Sex | Usually F | 15 F:3 M | F | F | F | F | F | F | F |
| Age (years) | Any | 2–41 y (mean 15) | 18 | 2 | 7 | 4 | 2 | NK | 13 |
| Normal pre/perinatal period | + | 11/18 | + | + | + | + | − | NK | + |
| Near normal early development | + | 10/18 | − | − | − | − | − | NK | − |
| Normal OFC at birth | Usually | 14/14 | + | + | + | + | + | NK | + |
| Deceleration of OFC from birth | + | 6/11 | − | + | + | + | + | NK | + |
| Current OFC centile | Varies, mean 3rd centile | 6/15 <3rd centile | 9–25 | 0.4–2 | <0.4 | <0.4 | <0.4 | NK | 9 |
| Regression | + | 5/17 | − | + | − | − | − | NK | − |
| Hand stereotypies | + | 12/14 | + | + | + | + | + | NK | + |
| Severe intellectual disability | + | 16/17 | + | + | + | + | + | + | + |
| Motor dyspraxia | + | 6/12 | + | − | − | + | − | NK | + |
| Hypotonia | + | 7/12 | + | + | + | + | + | NK | + |
| Best gross motor skill | Varies | 6/16 walk | Walks and swims | None | None | None | Sits unsupported | Limited | Crawls |
| Limited hand skills | + | 15/16 | + | + | + | + | + | NK | + |
| Seizure onset | After regression, extremely rare before 6 m | Birth – 5 m† (mean 2 m) | 2 m | 10 d | 3 d | 1 mh | 5 w | Early | 6 w |
| Growth retardation | + | 5/10 | − | − | + | − | + | NK | + |
| Autonomic features | + | 11/16 | − | − | + | − | + | NK | − |
| Scoliosis | + | 9/14 | − | − | − | − | − | NK | + |
| Good eye contact | + | 4/15 | − | − | − | − | + | NK | + |
| Bruxism | + | 4/15 | + | + | + | − | + | NK | + |
| Mood lability | + | 3/15 | + | − | + | + | − | NK | + |
| Sleep disturbance | + | 1/14 | + | − | + | + | − | NK | − |
| Speech in phrases | Often none | 1/16 | + | − | − | − | − | NK | − |
| Gastro-oesophageal reflux | Often | 8/16 | − | − | + | − | − | NK | − |