Table 2

Comparison of the main clinical features from the 59 patients of the series

MeasurementsNeurological and neurosensorial featuresGI features
PatientsAge at diagnosis (y)Premature death (y)Age at examination (y)OFC (SDS)Height (SDS)Weight (SDS)Developmental delayEarly hypotoniaLanguageIndependent gaitWalking ageToilet trainingSeizuresDrug resistanceSeizures onset (y)Type of epilepsyMotor regressionAtaxiaStereotypiesBruxismDecreased pain sensibilityHypermetropiaHearing impairmentGOREarly feeding difficultiesChronic constipationRecurrent infectionsObstructive sleep apnoeaUrogenital anomalies
F1P122.51.2−0.12.6++FW++
F2P1610.71.41.55.9++FW+3+6TC, Ab++++++++
F4P11.15.61++FW++3M, At++++
F5P1111.30.8−0.60.7++FW+2.5+++
F5P218.8240.9−1.70.5++2+18M, TC, At+++++++++
F5P314.316.50.3−0.9−0.8++6++16M, At++++++
F5P413.218180.10.1−2.6+++1.4++4.5M, At, TC++++++++
F6P1715−0.6−0.9−0.7++FW+5++6TC, At++++++
F7P126263.70−0.2+++2++6TC, At++++++
F7P22929+++2++10Ab++++++
F8P1131514−0.1−1.2−1.5+++1.9+++++++++
F9P112.816.3−1.7−1.6−1.4++10+++++++++
F9P2NA142.5−0.90.1−1.7++++10TC++++++++
F10P13.86.4−1.6−0.20.9+++2.3+++++++
F11P123.8300.9−1.7−0.5++3++5At, M, TC+++++++
F12P114218+++0.7TC++++
F12P2215++FW+4+4TC+++
F13P12.72.7−1.1−1.10.5++FW+1.7+-+++++
F14P110,111.8−0.11.9−0.9+++2++++++++++++
F18P11.96.2−1.9−1.71.4+++++++++++++
F20P10.99.80.8++++++++++
F21P19121.40.91.7++FW+2++++++
F22P10.310.2−0.2−0.3−1.5++NANNANA++++++
F23P16.26.5211++FW2.1++5TC, CP++++++++
F24P19.57.4−0.400.5++FW+3++++++
F24P27.57−0.20.12.5+++>2++++++
F26P17.97.54.6−1.51.8+++5+4M++++++
F27P14.23.5002++Bab+3.5++
F27P26.25.20.50.53++FW+>2+2At++++
F29P14.812−0.411.1++FW+6+1M, Ab, At++++++++
F31P12.35.9−0.7−1.8−1.4+++++++++++
F33P14.59.82.31.74.7++FW+2.6+2Ab, At, TC, CP+++++++++++
F34P11013−0.8−1−2.6++++7CP, M+++++
F38P12.52.2−0.2−0.1−0.6+++2.3++++
F39P11.24.4−3.4−1.91.9+++2At+++++++++
F40P1NA53.24.8−11.5+++3++3.5TC+++++
F41P17.411.5−2.5−1.9−1.2+++0.4At, TC+++++++++
F41P2NA0,90.8−2.8++NANANANANA+++
F43P128310.5−1.22.2++FW+3.5++18TC++++++++
F44P1NR20.82.3−2−0.6++FW2++4.1TC+++++++++
F44P2NR11.50.7−0.41.2++FW++++++
F45P113.53.7−111+++3+++
F45P23724.6−1−3+++
F46P1NR2423−3++FW+7++24+++++++
F46P2NR190.1−0.30.5+++3+++35+++++
F46P38.814.9−0.8−0.4−0.6+++5.5++++++++++
F47P11.574.50.2−1.50++FW+4++7++++++++
F48P18.7516.8−2.6−2.2−0.8++15++++++++
F49P142481.921.3+++5+2CP++++
F50P13.53−0.10.20.9++2.5+++
F50P292.5−1.8−1.3−0.8+++3++2.6Ab++
F51P13.66.75−0.511+++2+6TC++++++
F52P175−0.4−0.8−0.4++Bab+3++6++++
F53P121252.32.80.2+++2+++10TC, CP++++
F53P222.9272.32.20.8++FW+2.5+++6TC, CP+++++
F54P11.21.2−1.90−2.2++Bab+3++++++++
F55P11.751.73.3−0.81++BabNNA+++++++++
F56P14.57.51.91.55.9++FW+2.3++4+++++++
F57P1813.5−3.3−5.2−4.7+++12TC++++++++++
Total (%)100986610596239438972785430676178893343
  • Empty slots mean that the assessment of the feature is unavailable.

  • Ab, absence; At, atonic; Bab, babbling; CP, complex partial; FW, few words; GI, gastrointestinal; GER, gastro-oesophageal reflux; L, loss; M, myoclonic; NA, not applicable; NR, not reported; OFC, occipitofrontal circumference; SDS, SD score; TC, tonic-clonic; UG, urogenital; +, present sign; −, absent sign.