Quantification of functional abilities in Rett syndrome: a comparison between stages III and IV

Figures & data

Table 1 Self-care activities performed by at least one person with Rett syndrome

Able stage		Unable stage		Not applied n*	N**	Acquisition >90%, age range in years***	Activity****
III	IV	III	IV
n (%)	n (%)	n (%)	n (%)
38 (100)	22 (100)	0 (0)	0 (0)	–	1	0.6–0.11	Eats foods whipped/mashed/strained
36 (95)	19 (87)	2 (5)	3 (13)	–	2	1.0–1.5	Eats foods ground/granulated
32 (97)	13 (60)	1 (3)	9 (40)	5	3	3.0–3.5	Eats foods chopped/in pieces
32 (97)	11 (50)	1 (3)	11 (50)	5	4	3.0–3.5	Eats foods of various textures
29 (80)	14 (64)	7 (20)	8 (36)	2	24	2.0–2.5	Allows nose to be wiped
29 (76)	9 (41)	9 (24)	13 (59)	–	20	1.5–1.11	Keeps head still while hair is combed
13 (34)	1 (5)	25 (66)	21 (95)	–	10	0.6–0.11	Holds feeding bottle or glass with spout or straw
13 (34)	1 (5)	25 (66)	21 (95)	–	5	0.6–0.11	Feeds with fingers
12 (32)	11 (50)	26 (68)	11 (50)	–	15	1.6–1.11	Opens mouth for tooth brushing
8 (21)	0 (0)	30 (79)	22 (100)	–	11	1.0–1.5	Raises glass to drink, but may spill
8 (21)	0 (0)	30 (79)	22 (100)	–	29	1.0–1.5	Keeps hands elevated to be washed
8 (23)	0 (0)	27 (77)	22 (100)	3	64	2.6–2.11	Indicates when wetting diaper or pants – urinary control
7 (20)	1 (5)	28 (80)	21 (95)	3	70	2.6–2.11	Occasionally expresses desire to go to the bathroom (during the day)
7 (18)	0 (0)	31 (82)	22 (100)	–	39	1.0–1.5	Aids in pushing arms into shirt sleeves to dress
6 (16)	0 (0)	32 (84)	22 (100)	–	49	1.6–1.11	Aids in putting legs into pants to dress
4 (11)	3 (13)	31 (89)	19 (87)	3	69	2.6–2.11	Indicates need to be changed – bowel management
3 (9)	1 (5)	30 (91)	21 (95)	5	71	3.0–3.5	Constantly indicates need to evacuate in time to use the bathroom
3 (8)	0 (0)	35 (92)	22 (100)	–	6	1.6–1.11	Handles food with a spoon and raises to mouth
3 (8)	0 (0)	35 (92)	22 (100)	–	21	1.0–1.5	Raises comb or brush to hair
2 (6)	0 (0)	33 (94)	22 (100)	3	65	2.6–2.11	Occasionally indicates need to urinate (during the day)
2 (6)	0 (0)	34 (94)	22 (100)	2	12	2.0–2.5	Firmly raises glass without lid using both hands

Notes:

* Number of children without adequate age to perform the activity

** activity number appearing on the Pediatric Evaluation of Disability Inventory evaluation form

*** age range in years at which more than 90% of the typically developing children acquired this activity

**** the items are sorted in order of decreasing capacity and identified by the number of persons in stage III and IV able to perform the activity.

Table 2 Mobility activities performed by at least one person with Rett syndrome

Able stage		Unable stage		Not applied n*	N**	Acquisition >90%, age range in years***	Activity****
III	IV	III	IV
n (%)	n (%)	n (%)	n (%)
38 (100)	22 (100)	0 (0)	0 (0)	–	6	1.5–1.11	Sits if supported by equipment or adult (wheelchair)
34 (97)	14 (64)	1 (3)	8 (36)	3	7	2.6–2.11	Sits in chair or bench unsupported
34 (90)	4 (18)	4 (10)	18 (81)	–	28	1.0–1.5	Moves within a room, but with difficulty (fall; slow speed for age)
32 (84)	2 (9)	6 (16)	20 (91)	–	30	1.0–1.5	Moves between rooms, but with difficulty (fall; slow speed for age)
31 (82)	8 (36)	7 (18)	14 (34)	–	16	1.0–1.5	Raises to sitting position in bed or crib
31 (82)	3 (14)	7 (18)	19 (86)	–	38	1.6–1.11	Walks, but holds onto objects, adults, or support apparatus
31 (82)	2 (9)	7 (18)	20 (91)	–	26	1.0–1.5	Walks, but holds onto furniture, walls, or adults, or uses support apparatus
31 (82)	0 (0)	7 (18)	22 (100)	–	40	1.6–1.11	Moves 3–15 m (1–5 car lengths)
30 (79)	0 (0)	8 (21)	22 (100)	–	42	1.6–1.11	Moves 30–45 m (10–15 car lengths)
30 (79)	0 (0)	8 (21)	22 (100)	–	33	1.0–1.5	Changes physical location purposely
30 (79)	0 (0)	8 (21)	22 (100)	–	41	1.6–1.11	Moves 15–30 m (5–10 car lengths)
29 (76)	7 (32)	9 (24)	15 (68)	–	25	0.6–0.11	Rolls, scoots, drags, or crawls on floor
29 (76)	0 (0)	9 (24)	22 (100)	–	27	1.6–1.11	Walks without support – indoor
29 (76)	0 (0)	9 (24)	22 (100)	–	39	1.6–1.11	Walks unsupported – outdoor
29 (76)	0 (0)	9 (24)	22 (100)	–	43	1.6–1.11	Moves 45 m or more, but with difficulty (stumbles; slow speed for age)
29 (76)	0 (0)	9 (24)	22 (100)	–	45	1.6–1.11	Moves on level surfaces (flat sidewalks and streets)
26 (79)	4 (18)	7 (21)	18 (81)	5	17	2.0–2.5	Sits at edge of bed; lies down from sitting on edge of bed
25 (76)	0 (0)	8 (24)	22 (100)	5	46	2.0–2.5	Moves on slightly uneven surface (cracked asphalt)
25 (66)	0 (0)	13 (34)	22 (100)	–	20	1.6–1.11	Enters shower stall/tub
25 (66)	0 (0)	13 (34)	22 (100)	–	21	1.6–1.11	Exits shower stall/tub
23 (60)	0 (0)	15 (40)	22 (100)	–	29	1.0–1.5	Walks within a room without difficulty
23 (60)	0 (0)	15 (40)	22 (100)	–	47	1.6–1.11	Moves on irregular and uneven surfaces (lawns, gravel)
21 (60)	0 (0)	14 (40)	22 (100)	3	8	2.0–2.5	Sits and rises from chair or low/infant furniture
21 (60)	0 (0)	14 (40)	22 (100)	3	18	2.6–2.11	Gets in and out of own bed
21 (55)	0 (0)	17 (45)	22 (100)	–	44	1.6–1.11	Moves 45 m or more without difficulty
20 (57)	0 (0)	15 (43)	22 (100)	3	9	2.6–2.11	Sits and rises from adult-sized chair/wheelchair
20 (53)	0 (0)	18 (47)	22 (100)	–	48	1.6–1.11	Goes up and down ramps or inclines
19 (50)	0 (0)	19 (50)	22 (100)	–	31	1.6–1.11	Moves between rooms without difficulty
16 (42)	0 (0)	22 (58)	22 (100)	–	11	1.0–1.5	Moves in car; scoots on seat and in and out of car seat
15 (65)	0 (0)	8 (35)	22 (100)	21	10	6.0–6.5	Sits and rises from a chair without using arms
15 (39)	0 (0)	23 (61)	22 (100)	–	49	1.6–1.11	Moves up and down curbs
14 (42)	4 (18)	19 (58)	18 (81)	5	1	2.0–2.5	Sits if supported by equipment or adult (bathroom)
14 (42)	3 (14)	19 (58)	19 (86)	5	2	3.0–3.5	Sits unsupported on toilet or potty chair
14 (42)	0 (0)	19 (58)	22 (100)	5	12	3.0–3.5	Gets in and out of car with little aid or instruction
12 (46)	0 (0)	14 (54)	22 (100)	–	19	5.0–5.5	Gets in and out from own bed without using own arms
12 (34)	0 (0)	23 (66)	22 (100)	3	52	2.6–2.11	Walks up partial flight of stairs (erect)
10 (30)	0 (0)	23 (70)	22 (100)	5	4	3.0–3.5	Gets on and off from own adult-sized toilet
10 (29)	0 (0)	25 (71)	22 (100)	3	53	2.6–2.11	Walks up full flight of stairs, but with difficulty (slow for age)
8 (23)	0 (0)	27 (77)	22 (100)	3	3	2.6–2.11	Gets on and off from low toilet or potty chair
7 (18)	0 (0)	31 (82)	22 (100)	–	34	1.0–1.5	Moves concomitantly with objects on floor
7 (18)	0 (0)	31 (82)	22 (100)	–	34	1.0–1.5	Scoots or crawls up partial flight of stairs (1–11 steps)
7 (18)	0 (0)	31 (82)	22 (100)	–	51	1.6–1.11	Scoots or crawls up a complete flight of stairs (12–15 steps)
6 (32)	0 (0)	13 (68)	22 (100)	26	5	7.0–7.11	Gets on and off from toilet without using own arms
6 (16)	0 (0)	32 (84)	22 (100)	–	35	1.0–1.5	Carries objects small enough to hold in one hand
6 (16)	0 (0)	32 (84)	22 (100)	–	55	1.6–1.11	Scoots or crawls down partial flight of stairs (1–11 steps)
5 (13)	0 (0)	33 (87)	22 (100)	–	56	1.6–1.11	Scoots or crawls down a flight of stairs (12–15 steps)
4 (11)	0 (0)	31 (89)	22 (100)	3	58	2.6–2.11	Walks down full flight, but with difficulty (slow for age)
3 (9)	0 (0)	32 (91)	22 (100)	3	32	2.6–2.11	Moves indoors 15 m; opens and closes internal and external doors
3 (9)	0 (0)	32 (91)	22 (100)	3	57	2.6–2.11	Walks down complete flight of stairs (erect) (12–15 steps)
3 (8)	0 (0)	35 (92)	22 (100)	–	36	1.6–1.11	Carries large objects needing both hands
2 (8)	0 (0)	24 (92)	22 (100)	12	13	4.6–4.11	Gets in and out of car without aid or instruction

Notes:

* Number of children without adequate age to perform the activity

** activity number appearing on the Pediatric Evaluation of Disability Inventory evaluation form

*** age range in years at which more than 90% of the typically developing children acquired this activity

**** the items are sorted in order of decreasing capacity and identified by the number of persons in stage III and IV able to perform the activity.

Table 3 Social function activities performed by at least one person with Rett syndrome

Able stage		Unable stage		Not applied n*	N**	Acquisition >90%, age range in years***	Activity****
III	IV	III	IV
n (%)	n (%)	n (%)	n (%)
38 (100)	22 (100)	0 (0)	0 (0)	–	1	0.6–0.11	Orients to sound
21 (55)	6 (27)	17 (45)	16 (73)	–	26	1.0–1.5	Shows awareness and interest in others
18 (47)	6 (27)	20 (53)	16 (73)	–	2	1.6–1.11	Recognizes own name or name of familiar person
15 (45)	0 (0)	18 (55)	22 (100)	5	56	2.0–2.5	Shows appropriate caution near stairs
10 (30)	1 (5)	23 (70)	21 (95)	5	61	2.0–2.5	Child may play safely at home without being watched constantly
10 (26)	3 (14)	28 (74)	19 (86)	–	16	1.0–1.5	Uses gestures with clear meaning
9 (27)	5 (23)	24 (73)	17 (77)	5	22	3.0–3.5	If upset due to a problem, the child needs to be helped
9 (24)	2 (9)	29 (76)	20 (91)	–	31	0.6–0.11	Notices presence of other children and may vocalize or gesture
6 (16)	3 (14)	32 (84)	19 (86)	–	3	1.6–1.11	Understands ten words
6 (16)	0 (0)	32 (84)	22 (100)	–	36	1.0–1.5	Manipulates toys, objects, or body with intent
4 (12)	0 (0)	29 (88)	22 (100)	5	62	3.0–3.5	Goes outside the house safely
4 (11)	1 (5)	34 (89)	21 (95)	–	17	1.6–1.11	Uses single word with meaning
4 (11)	0 (0)	34 (89)	22 (100)	–	6	1.6–1.11	Understands short sentences about familiar objects and people
3 (9)	0 (0)	30 (91)	22 (100)	5	11	2.0–2.5	Names objects
3 (9)	0 (0)	30 (91)	22 (100)	5	12	2.0–2.5	Uses specific words or gestures to direct or request actions

Notes:

* Number of children without adequate age to perform the activity

** activity number appearing on the Pediatric Evaluation of Disability Inventory evaluation form

*** age range in years at which more than 90% of the typically developing children acquired this activity

**** the items are sorted in order of decreasing capacity and identified by the number of persons in stage III and IV able to perform the activity.

Table 4 Comparison between the different areas (indicated with P-values) of the Pediatric Evaluation of Disability Inventory for each stage of Rett syndrome

	Self-care – mobility	Mobility – social function	Social function – self-care
Stage III	<0.001	<0.001	<0.001
Stage IV	0.041	0.281	<0.001

Figure 1 Comparison of the three areas (self-care, mobility, and social function) between persons with stage III and stage IV Rett syndrome.

Notes: Thick lines represent the medians of scores; the lines below and above represent the first and third quartiles, respectively.
Abbreviation: PEDI, Pediatric Evaluation of Disability Inventory.