Caregiver Perspectives on Pain Sensitivity and Pain Experience in Rett Syndrome

Figures & data

Table 1. Clinical and demographic characteristics of the participants with RTT and their caregivers.

Characteristic		12 and younger					13 and older
		Mild			Severe		Mild			Severe		Total
		Median	Min-max		Median	Min-max	Median	Min-max		Median	Min-max	Median	Min-max
Total N		12			8		9			22		51
Age		6.3	2.3–10.0		6.6	2.8–10.8	18.1	13.1–52.5		21.5	13.8–39.2	14.3	2.3–52.5
Clinical severity score		11	5–15		19	16–27	12	5–15		22	16–31	18	5–31
		N	%		N	%	N	%		N	%	N	%
Biological mother as reporter		12	100		7	88	8	89		16	73	43	84
Ambulation
	With assistance	3	25		1	13	1	11		4	18	9	18
	Without assistance	5	42		3	38	8	89		3	14	19	37
Seizures
	Previous/controlled	6	50		3	38	1	11		6	27	16	31
	Uncontrolled	1	8		3	38	2	22		13	59	19	37
Genetic mutation
	p.Arg133Cys	1	8		0	0	0	0		3	14	4	8
	p.Pro152Arg	1	8		0	0	0	0		1	5	2	4
	p.Thr158Met	2	17		1	13	0	0		0	0	3	6
	p.Arg306Cys	0	0		0	0	1	11		0	0	1	2
	Other missense	3	25		1	13	2	22		0	0	6	12
	p.Arg168*	0	0		1	13	0	0		0	0	1	2
	p.Arg270*	2	17		2	25	1	11		1	5	6	12
	p.Arg294*	1	8		0	0	0	0		4	18	5	10
	Other truncating	1	8		0	0	2	22		3	14	6	12
	Deletion/insertion	1	8		2	25	1	11		5	23	9	18
	Not reported*	0	0		1	13	1	11		4	18	6	12
	Not tested	0	0		0	0	1	11		1	5	2	4

Figure 1. Frequency of reports of typical versus decreased pain sensitivity by age (12 and younger versus 13 and older) and clinical severity (mild versus severe).

Table 2. Summary of reported chronic and recent pain sources by clinical severity group.

	12 and younger						13 and older						Total Sample
	Mild		Severe		All		Mild		Severe		All		Mild		Severe		All
Characteristic/pain type	N	%	N	%	N	%	N	%	N	%	N	%	N	%	N	%	N	%
Total N	12		8		20		9		22		31		21		30		51
Decreased pain sensitivity	10	83	7	88	17	85	9	100	17	77	26	84	19	90	24	80	43	84
Recent pain (previous 7 days)
Any source	5	42	5	63	10	50	6	67	16	73	22	71	11	52	21	70	32	63
Gastrointestinal pain	2	17	2	25	4	20	0	0	3	14	3	10	2	10	5	17	7	14
Musculoskeletal	0	0	1	13	1	5	2	22	7	32	9	29	2	10	8	27	10	20
Neurological	0	0	1	13	1	5	0	0	3	14	3	10	0	0	4	13	4	8
Therapy or procedure related	0	0	0	0	0	0	0	0	4	18	4	13	0	0	4	13	4	8
Illness/infection	0	0	1	13	1	5	0	0	1	5	1	3	0	0	2	7	2	4
Accidental	2	17	0	0	2	10	1	11	0	0	1	3	3	14	0	0	3	6
Other source	0	0	0	0	0	0	2	22	2	9	4	13	2	10	2	7	4	8
Unknown source	2	17	1	13	3	15	1	11	0	0	1	3	3	14	1	3	4	8
Chronic pain
Any source	5	42	5	63	10	50	4	44	14	64	18	58	9	43	19	63	28	55
Gastrointestinal pain	3	25	3	38	6	30	0	0	7	32	7	23	3	14	10	33	13	25
Musculoskeletal	0	0	3	38	3	15	2	22	8	36	10	32	2	10	11	37	13	25
Neurological	0	0	1	13	1	5	0	0	3	14	3	10	0	0	4	13	4	8
Therapy or procedure related	0	0	0	0	0	0	0	0	3	14	3	10	0	0	3	10	3	6
Other source	0	0	0	0	0	0	1	11	5	23	6	19	1	5	5	17	6	12
Unknown source	2	17	1	13	3	15	2	22	0	0	2	6	4	19	1	3	5	10
Experiences pain at least daily	1	8	2	25	3	15	3	33	6	27	9	29	4	19	8	27	12	24

Figure 2. Number of reported chronic pain sources by age (12 and younger versus 13 and older) and clinical severity (mild versus severe).

Figure 3. Violin plots representing the distribution of total pain interference scores on the BPI by age (12 and younger versus 13 and older) and clinical severity (mild versus severe). Points represent data from individual cases, and the shapes represent the density of the distribution across values of pain interference (i.e., wider = more values in that range).

Data Availability Statement

The data that support the findings of this study are available on request from the corresponding author, BJB. The data are not publicly available because they contain information that could compromise the privacy of research participants.