Table 2

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

	R133C cases (24)			Other mutations (98)
	p value	Percentage in category	Missing	Percentage in category	Missing
*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.
Feeding	<0.0001		4		2
Uses spoon		35		0
Finger feeds		20		22
No attempt		45		78
Speech	<0.0001		1		5
More than single words		9		2
Single words		48		2
More than no vocalisation but no single words		17		66
Lost speech		22		30
Never acquired		4		0
Gross motor function	<0.0001		0		5
Walks normally		54		12
Walking impaired		38		27
Previously or has never walked		8		61
Age at losing social interaction	0.0011		10*		6
>18 months		86		39
6–18 months		14		61
Sleep disturbance	0.0013		9†		1
No disturbance reported		40		8
Disturbance either past or present		27		22
Disturbance both past and present		33		70
Hand use	0.0017		3		1
Acquired and conserved		29		7
Lost purposefulness 2–6 years or conserved manipulation		29		21
Lost purposefulness <2 years or conserved grasping		33		18
Acquired and lost		10		53
Never acquired		0		2
Respiratory	0.0075		2		6
No dysfunction		45		18
Hyperventilation and/or apnoea		55		82
Disturbed awake breathing rhythm	0.0102		5		6
Never		53		20
Rare to daily		21		39
Daily to constantly		26		41
Frequency of hand stereotypies	0.0292		5		5
Never		5		1
Rare to dominating		21		5
Dominating to constantly		74		94
Voluntary hand use	0.0307		4		1
Normal, feeding independently		20		7
Some hand use, feeding with help		55		38
None		25		55
Scoliosis	0.0332		7‡		1
No scoliosis		65		38
Scoliosis		35		36
Scoliosis operated		0		26
Ambulation	0.0233		9†		2
First walked <18 months and still walking		53		35
First walked <18 months then lost ability, or first walked 18–30 months and still walking		20		16
First walked 18–30 months then lost ability		20		5
First walked >30 months and still walking		7		4
Never acquired		0		40
Epilepsy	0.0608		5		12
Never		21		27
Previous seizures, or present and controlled with medication		74		50
Uncontrolled		0		22
Early epilepsy <12 months		5		1
Present weight	0.0877		7§		8
Z score >=−1		59		32
−2 < Z score <−1		6		20
Z score <=−2		35		48
Early developmental progress	0.0998		1		5
Normal progress		61		39
Suboptimal progress		39		54
No or virtually no progress		0		8
Present HC	0.1567		5		6
Above 10th centile		53		35
3rd–10th centile		26		21
Below 3rd centile		21		45
Present height	0.1980		8§		8
Z score >=−1		25		31
−2 < Z score <−1		31		13
Z score <=−2		44		56
Age at sitting alone	0.7770		11¶		7
Acquired <8 months		77		69
Acquired 8–16 months		23		29
Never acquired		0		2