Table 3. The proportion of females (n=77) and males (n=9) that met each of the latest criteria for ESV RTT40.
|
Number of CDKL5-positive cases |
||||||
|
Female |
Male |
|||||
|
2010 ESV RTT criteria |
≤5 Years |
>5 Years |
All |
≤5 Years |
>5 Years |
All |
| Necessary criteria | ||||||
| A period of regression followed by recovery or stabilisation | 10/41 (24.4) | 15/36 (41.7) | 25/77 (32.5) | 1/6 (16.7) | 0/3 (0.0) | 1/9 (11.1) |
| Main criteria | ||||||
| Partial or complete loss of acquired purposeful hand function | 4/36 (11.1) | 7/30 (23.3) | 11/66 (16.7) | 0/5 (0.0) | 0/3 (0.0) | 0/8 (0.0) |
| Partial or complete loss of acquired spoken language | 8/40 (20.0) | 6/35 (17.1) | 14/75 (18.7) | 0/6 (0.0) | 0/3 (0.0) | 0/9 (0.0) |
| Gait abnormalities: Impaired (dyspraxic) or absence of ability | 40/40 (100.0) | 27/34 (79.4) | 67/74 (90.5) | 6/6 (100.0) | 3/3 (100.0) | 9/9 (100.0) |
| Stereotypic hand movements | 32/41 (78.0) | 29/35 (82.9) | 61/76 (80.3) | 3/6 (50.0) | 0/3 (0.0) | 3/9 (33.3) |
| Supportive criteria | ||||||
| Breathing disturbances when awake | 19/38 (50.0) | 17/33 (51.5) | 36/71 (50.7) | 3/6 (50.0) | 2/3 (66.7) | 5/9 (55.5) |
| Bruxism when awake | 33/40 (82.5) | 30/33 (90.9) | 63/73 (86.3) | 5/5 (100.0) | 3/3 (100.0) | 8/8 (100.0) |
| Impaired sleep pattern | 31/36 (86.1) | 31/33 (93.9) | 62/69 (89.8) | 5/5 (100.0) | 2/3 (66.7) | 7/8 (87.5) |
| Abnormal muscle tone | 13/15 (86.7) | 10/11 (90.0) | 23/26 (88.5) | 2/2 (100.00) | NA | 2/2 (100.0) |
| Peripheral vasomotor disturbances | 11/40 (27.5) | 19/33 (57.6) | 30/73 (41.1) | 1/5 (20.0) | 2/3 (66.7) | 3/8 (37.5) |
| Scoliosis/kyphosis | 1/39 (2.6) | 14/34 (41.2) | 15/73 (20.5) | 0/5 (0.0) | 3/3 (100.0) | 3/8 (37.5) |
| Growth retardation | 6/10 (60.0) | 6/9 (66.7) | 12/19 (63.1) | 0/2 (0.0) | Missing | 0/2 (0.0) |
| Small cold hands or feet | 19/39 (48.7) | 24/31 (77.4) | 43/70 (61.4) | 2/5 (40.0) | 2/3 (66.7) | 4/8 (50.0) |
| Inappropriate laughing/screaming spells | 22/35 (62.9) | 29/32 (90.6) | 51/67 (76.1) | 3/5 (50.0) | 1/3 (33.3) | 4/8 (50.0) |
| Diminished response to pain | 15/37 (40.5) | 11/31 (35.5) | 26/68 (38.2) | 0/5 (0.0) | 1/3 (33.3) | 1/8 (12.5) |
| Intense eye communication ‘eye pointing' | 5/37 (13.5) | 5/33 (15.1) | 10/70 (14.3) | 0/5 (0.0) | 0/3 (0.0) | 0/8 (0.0) |
| ESV-specific criteria | ||||||
| Early-onset seizures before 5 months of age | 40/40 (100.0) | 32/35 (91.4) | 72/75 (96.0) | 6/6 (100.0) | 3/3 (100.0) | 9/9 (100.0) |
| Infantile spasmsa | 11/22 (50.0) | 3/14 (21.4) | 14/36 (38.9) | 1/3 (33.3) | 1/1 (100.0) | 2/4 (50.0) |
| Refractory myoclonic epilepsyb | NA | |||||
| Seizure onset before regression | 40/41 (97.6) | 30/36 (83.3) | 70/77 (90.9) | 4/5 (80.0) | 3/3 (100.0) | 7/8 (87.5) |
| Decreased frequency of typical RTT featuresc | NA | |||||
| Meets criteria for atypical RTT | ||||||
| Necessary criteria | 10/41 (24.4) | 15/36 (41.7) | 25/77 (32.5) | 1/6 (16.7) | 0/3 (0.0) | 1/9 (11.1) |
| Two of the four main criteria | 32/40 (80.0) | 25/33 (75.8) | 57/73 (79.5) | 3/6 (50.0) | 0/3 (0.0) | 3/9 (33.3) |
| 5 Of the 11 supportive criteria | 20/28 (71.4) | 26/26 (100.0) | 46/54 (86.4) | 2/3 (66.7) | 3/3 (100.0) | 5/6 (83.3) |
| All criteria | 7/39 (17.9) | 12/36 (33.3) | 19/75 (23.7) | 0/6 (0.0) | 0/3 (0.0) | 0/9 (0.0) |
Abbreviations: CDKL5, cyclin-dependent kinase-like 5; CI, confidence interval; ESV RTT, early-onset seizure variant of Rett syndrome; NA, not applicable.
a
The occurrence of infantile spasms was determined from the clinician questionnaire or if the family had listed infantile spasms as their child's diagnosis.
b
Our questionnaire did not contain enough information to be able to determine this criterion.
c
Decreased frequency of typical RTT features was not able to be determined as it is unclear which features are included and what is considered a ‘decreased' frequency.