Table 2

Individual clinical data items (categorical variables): R133C cases and comparison group

R133C cases (24)Other mutations (98)
p valuePercentage in categoryMissingPercentage in categoryMissing
*Includes eight patients from the United Kingdom, one from Japan, and one from Australia;
†includes all nine patients from the United Kingdom;
‡includes six patients from the United Kingdom;
§includes seven patients from the United Kingdom;
¶includes all nine patients from the United Kingdom and two from Australia.
    Uses spoon350
    Finger feeds2022
    No attempt4578
    More than single words92
    Single words482
    More than no vocalisation but no single words1766
    Lost speech2230
    Never acquired40
Gross motor function<0.000105
    Walks normally5412
    Walking impaired3827
    Previously or has never walked861
Age at losing social interaction0.001110*6
    >18 months8639
    6–18 months1461
Sleep disturbance0.00139†1
    No disturbance reported408
    Disturbance either past or present2722
    Disturbance both past and present3370
Hand use0.001731
    Acquired and conserved297
    Lost purposefulness 2–6 years or conserved manipulation2921
    Lost purposefulness <2 years or conserved grasping3318
    Acquired and lost1053
    Never acquired02
    No dysfunction4518
    Hyperventilation and/or apnoea5582
Disturbed awake breathing rhythm0.010256
    Rare to daily2139
    Daily to constantly2641
Frequency of hand stereotypies0.029255
    Rare to dominating215
    Dominating to constantly7494
Voluntary hand use0.030741
    Normal, feeding independently207
    Some hand use, feeding with help5538
    No scoliosis6538
    Scoliosis operated026
    First walked <18 months and still walking5335
    First walked <18 months then lost ability, or first walked 18–30 months and still walking2016
    First walked 18–30 months then lost ability205
    First walked >30 months and still walking74
    Never acquired040
    Previous seizures, or present and controlled with medication7450
    Early epilepsy <12 months51
Present weight0.08778
    Z score >=−15932
    −2 < Z score <−1620
    Z score <=−23548
Early developmental progress0.099815
    Normal progress6139
    Suboptimal progress3954
    No or virtually no progress08
Present HC0.156756
    Above 10th centile5335
    3rd–10th centile2621
    Below 3rd centile2145
Present height0.19808
    Z score >=−12531
    −2 < Z score <−13113
    Z score <=−24456
Age at sitting alone0.777011¶7
    Acquired <8 months7769
    Acquired 8–16 months2329
    Never acquired02