Table 3

Comparison of the clinical data from the present study and those reported by Van Esch et al and Lim et al 10–12

Van Esch et al (%)Lim et al (%)Present study (%)
Patient number1294959
GenderMMM
Age at diagnosis (years)NR310
Age at examination (years)NR7.912
Neonatal complicationsNR33*32/58 (55)
Early death (<25 years)34/88 (39)NR9/59 (15)
Facial dysmorphism65/86 (76)NR51/55 (93)
Growth
  Head circumference (SDS)Normal rangeNR0.2
  Height (SDS)Normal rangeNR−0.4
  Weight (SDS)Normal rangeNR0.4
Neurodevelopment
  Developmental delay129/129 (100)41/49 (84)59/59 (100)
  Early hypotonia110/117 (94)31/48 (65)57/58 (98)
  Seizures66/123 (54)21/49 (43)35/59 (59)
  Drug resistanceNR17/21 (81)21/34 (62)
  Age at onset of seizures (years)61 to 207.4
  Type of seizuresTC, At, Ab, MNRTC, At, Ab, M, CP
  Walking age (years)18 months to 4 years43.6
  Walking without support83/109 (76)13/49 (27)37/56 (66)
  Absent speech86/109 (79)23/46 (50)32/57 (56)
  Stereotyped movements20/78 (26)55% at 3 years49/55 (89)
Gastrointestinal anomalies
  Chronic constipation29/88 (33)37/45 (82)43/55 (78)
  Gastrooesophageal refluxNR26/49 (53)34/51 (67)
Recurrent pulmonary infections87/121 (72)38/49 (78)49/55 (89)
Skeletal anomalies
  Flexion of the knees and the trunk57/89 (64)NR42/49 (86)
  Scoliosis and/or kyphosisNR10/46 (22)23/43 (53)
  Decreased pain sensitivityNR25/50* (50)29/37 (78)
  • *Includes both males and females.

  • At, atonic; M, myoclonic; Ab, absence; CP, complex partial; TC, tonic-clonic; NR, not reported; SDS, SD score.