Table 4

 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 1Patient 2Patient 3Patient 4Patient 5Patient 6Patient 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.
SexUsually F15 F:3 MFFFFFFF
Age (years)Any2–41 y (mean 15)182742NK13
Normal pre/perinatal period+11/18++++NK+
Near normal early development+10/18NK
Normal OFC at birthUsually14/14+++++NK+
Deceleration of OFC from birth+6/11++++NK+
Current OFC centileVaries, mean 3rd centile6/15 <3rd centile9–250.4–2<0.4<0.4<0.4NK9
Hand stereotypies+12/14+++++NK+
Severe intellectual disability+16/17+++++++
Motor dyspraxia+6/12++NK+
Best gross motor skillVaries6/16 walkWalks and swimsNoneNoneNoneSits unsupportedLimitedCrawls
Limited hand skills+15/16+++++NK+
Seizure onsetAfter regression, extremely rare before 6 mBirth – 5 m† (mean 2 m)2 m10 d3 d1 mh5 wEarly6 w
Growth retardation+5/10++NK+
Autonomic features+11/16++NK
Good eye contact+4/15+NK+
Mood lability+3/15+++NK+
Sleep disturbance+1/14+++NK
Speech in phrasesOften none1/16+NK
Gastro-oesophageal refluxOften8/16+NK