Patterns of decline in upper limb function of boys and men with DMD: an international survey

Abstract

With increasing life expectancy, upper extremity (UE) function becomes more and more important in boys with Duchenne muscular dystrophy (DMD). Knowledge of UE function in these children is, however, limited. The aim of this study was to gain insight into the changing patterns of UE function during the course of DMD. A Web-based questionnaire on UE function, covering all domains of the International Classification of Functioning Disability and Health, was distributed worldwide. Primary domains of the questionnaire were: participant characteristics, UE pain and stiffness, UE activities, and social participation. Data were described per disease stage and analyzed using descriptive analysis. A total of 213 boys/men with DMD (1–35 years) were included in this study. UE pain, stiffness, and activity limitations increased with disease stage. UE activity limitations already occurred in the early ambulatory stage. Compared to the healthy population, social participation was restricted in DMD patients and about 70 % of the respondents experienced UE limitations when performing social activities. Despite the existence of UE impairments, only 9 % of the respondents used supportive aids. Functional capacities and activities of the UE are limited already in the early ambulatory stage of patients with DMD affecting their social participation. Therefore, clinicians should pay attention to UE limitations before DMD patients lose their capacity to walk. Effective and adequate aids as well as attention for pain and stiffness in the therapeutic management could help to reduce UE activity limitations and related restrictions in social participation.

Appendix

Nr.	Questions	Answer options
1	Response ID	Given by the computer
2	What is your age?	Open question
3	Who filled out the questionnaire?	1 = Myself 2 = Mother 3 = Father 4 = Caregiver 5 = Other (open question)
4	In which country do you live?	Open question
5	Were you born in this country?	1 = Yes 2 = No
6	Since when have you lived in this country? (if question 5 = 2)	Open question
7	In which country were you born? (if question 5 = 2)	Open question
8	How tall are in cm?	Open question
9	What is your weight in kg?	Open question
10	What is your preferred hand?	1 = Right 2 = Left 3 = First right now left 4 = First left now right 5 = No preference
11	When was the diagnosis Duchenne muscular dystrophy made for you?	Open question
12	Who made the diagnosis?	1 = General practitioner 2 = Pediatrician 3 = Pediatric neurologist 4 = Neurologist 5 = I do not know 6 = Other (open question)
13	Do you know which gene deviation you have?	1 = No 2 = Yes
14	Which gene deviation you have? (if question 13 = 2)	Open question
15	Do you have other chronic diseases?	1 = No 2 = Yes
16	What chronic disease do you have? (if question 15 = 2)	Open question
17	Have you ever seriously injured, e.g., a bone fracture one of your arms or hands?	1 = No 2 = Left arm 3 = Right arm 4 = Left hand 5 = Right hand (more than one answers possible)
18	Have you ever had surgery of one of your arms or hands?	1 = No 2 = Left arm 3 = Right arm 4 = Left hand 5 = Right hand (more than one answers possible)
19	Do you have spinal deformities, e.g., scoliosis?	1 = No 2 = Yes mild 3 = Yes severe
20	Was surgery performed to correct for spinal deformities? (if question 19 = 2 or 3)	1 = No 2 = Yes
21	In what year was surgery performed? (if question 20 = 2)	Open question
22	Do you use corticosteroids prednisone/prednisol or deflazacort at this moment?	1 = No 2 = Not anymore 3 = Yes
23	Which type of medication did you use? (if question 22 = 2)	1 = Prednisolon/prednisone 2 = Deflazacort
24	Did you use it continuously or with intervals? (if question 22 = 2)	1 = Continuously 2 = 10 days on 10 days off 3 = Other (open question)
25	Which dose did you use? (if question 22 = 2)	Open question
26	When did you start using this medication? (if question 22 = 2)	Open question
27	When did you stop using this medication? (if question 22 = 2)	Open question
28	Why did you stop using this medication? (if question 22 = 2)	Open question
29	When did you start using this medication? (if question 22 = 3)	Open question
30	Which type of medication do you use? (if question 22 = 3)	1 = Prednisolon/prednisone 2 = Deflazacort
31	Do you use it continuously or with intervals? (if question 22 = 3)	1 = Continuously 2 = 10 days on 10 days off 3 = Other (open question)
32	Which dose did you use? (if question 22 = 3)	Open question
33	Do you use other medication that can possibly affect the course of Duchenne muscular dystrophy?	1 = No 2 = Yes
34	What medication that can possibly affect the course of Duchenne muscular dystrophy do you use? (if question 33 = 2)	Open question
35	Do you use supplements like vitamins or homeopathic remedies?	1 = No 2 = Yes
36	What supplements do you use? (if question 35 = 2)	Open question
37	Did you ever had physiotherapy?	1 = Never 2 = Yes, but not anymore 3 = Yes, with periods of no therapy 4 = Yes, continuously
38	How often do you have physiotherapy now? (if question 37 = 3 or 4)	Open question
39	For how long are your arms/hands treated by the physiotherapist each week? (if question 37 = 3 or 4)	1 = None 2 = … minutes a week (open question)
40	What kind of physiotherapy do you receive for your arms/hands? (if question 39 = 2)	1 = Stretching 2 = Supported active movements 3 = Passive movements 4 = Other movements, namely (open question) (more than one answer possible)
41	Do you exercises your arms/hands yourself or with your parents/caregivers?	1 = No 2 = Yes, on average once a week 3 = Yes, on average once a day 4 = Yes, more than once a day
42	What kind of exercises do you do by yourself or with your parents/caregivers? (if question 41 = 2, 3 or 4)	1 = Stretching 2 = Supported active movements 3 = Passive movements 4 = Other movements, namely (open question) (more than one answer possible)
43	Do you swim or do you get hydrotherapy?	1 = No 2 = Yes
45	Did you ever receive occupational therapy, e.g., practicing daily activities or use of assistive devices?	1 = Never 2 = Yes, but not anymore 3 = Yes, with periods of no therapy 4 = Yes, continuously
46	How often do you receive occupational therapy currently? (if question 45 = 3 or 4)	Open question
47	For how long are your arms/hands treated by the occupational therapist each week? (if question 45 = 3 or 4)	1 = None 2 = … minutes a week (open question)
48	What kind of occupational therapy do you receive for the arms/hands? (if question 47 = 2)	1 = Practice use of devices 2 = Practice use of arm support 3 = Fitting of splints 4 = Different, namely… (open question)
49	Which devices do you use for walking, transfers, or in therapy?	1 = Standing frame 2 = Long leg braces 3 = Wheelchair, pushed by somebody else 4 = Manual wheelchair (independent traveling) 5 = Manual wheelchair with electrical supported wheels 6 = Electrical wheelchair (independent traveling) 7 = Scooter 8 = Other motorized vehicle (e.g., Segway) 9 = 2-wheeled-bicycle 10 = 2-wheeled-bicycle with electrical support 11 = 3-wheeled-bicycle 12 = 3-wheeled-bicycle with electrical support
50	How often do you use these devices? (asked for the separate devices)	1 = Never 2 = Few times a year 3 = Few times a month 4 = Few times a week 5 = Almost every day 6 = Daily for a significant part of the day
50	Are you completely wheelchair confined?	1 = No 2 = Yes, since (open question)
51	Do you use splints for your arms and/or hands?	1 = No 2 = Yes, namely (open question)
52	How often do you wear these splints?	1 = Few times a year 2 = Few times a month 3 = Few times a week 4 = Almost every day 5 = Daily for a significant part of the day 6 = During the night
53	Do you use some kind of arm support other than splints?	1 = No 2 = Yes, namely (open question)
54	How often do you use this arm support?	1 = Few times a year 2 = Few times a month 3 = Few times a week 4 = Almost every day 5 = Daily for a significant part of the day
55	For which activities do you use the arm support?	Open question
56	How often do you have pain in your right shoulder?	0 = Never 1 = Few times a year 2 = Few times a month 3 = Few times a week 4 = Almost every day 5 = Daily for a significant part of the day 6 = Always
57	How often do you have pain in your right upper arm?	Same as question 56
58	How often do you have pain in your right elbow?	Same as question 56
59	How often do you have pain in your right forearm?	Same as question 56
60	How often do you have pain in your right wrist?	Same as question 56
61	How often do you have pain in your right thumb?	Same as question 56
62	How often do you have pain in the fingers of your right hand?	Same as question 56
63	How often do you have pain in your left shoulder?	Same as question 56
64	How often do you have pain in your left upper arm?	Same as question 56
65	How often do you have pain in your left elbow?	Same as question 56
66	How often do you have pain in your left forearm?	Same as question 56
67	How often do you have pain in your left wrist?	Same as question 56
68	How often do you have pain in your left thumb?	Same as question 56
69	How often do you have pain in the fingers of your left hand?	Same as question 56
70	How severe is the pain in your right shoulder?	0 = No pain 10 = Worst pain imaginable
71	How severe is the pain in your right upper arm?	Same as question 70
72	How severe is the pain in your right elbow?	Same as question 70
73	How severe is the pain in your right forearm?	Same as question 70
74	How severe is the pain in your right wrist?	Same as question 70
75	How severe is the pain in your right thumb?	Same as question 70
76	How severe is the pain in the fingers of your right hand?	Same as question 70
77	How severe is the pain in your left shoulder?	Same as question 70
78	How severe is the pain in your left upper arm?	Same as question 70
79	How severe is the pain in your left elbow?	Same as question 70
80	How severe is the pain in your left forearm?	Same as question 70
81	How severe is the pain in your left wrist?	Same as question 70
82	How severe is the pain in your left thumb?	Same as question 70
83	How severe is the pain in the fingers of your left hand?	0 = No limitations 10 = Fully limited
84	How limited are you due to the pain in your right shoulder?	Same as question 83
85	How limited are you due to the pain in your right upper arm?	Same as question 83
86	How limited are you due to the pain in your right elbow?	Same as question 83
87	How limited are you due to the pain in your right forearm?	Same as question 83
88	How limited are you due to the pain in your right wrist?	Same as question 83
89	How limited are you due to the pain in your right thumb?	Same as question 83
90	How limited are you due to the pain in the fingers of your right hand?	Same as question 83
91	How limited are you due to the pain in your left shoulder?	Same as question 83
92	How limited are you due to the pain in your left upper arm?	Same as question 83
93	How limited are you due to the pain in your left elbow?	Same as question 83
94	How limited are you due to the pain in your left forearm?	Same as question 83
95	How limited are you due to the pain in your left wrist?	Same as question 83
96	How limited are you due to the pain in your left thumb?	Same as question 83
97	How limited are you due to the pain in the fingers of your left hand?	Same as question 83
98	How often do you experience stiffness in your right shoulder?	0 = Never 1 = Few times a year 2 = Few times a month 3 = Few times a week 4 = Almost every day 5 = Daily for a significant part of the day 6 = Always
99	How often do you experience stiffness in your right upper arm?	Same as question 98
100	How often do you experience stiffness in your right elbow?	Same as question 98
101	How often do you experience stiffness in your right forearm?	Same as question 98
102	How often do you experience stiffness in your right wrist?	Same as question 98
103	How often do you experience stiffness in your right thumb?	Same as question 98
104	How often do you experience stiffness in the fingers of your right hand?	Same as question 98
105	How often do you experience stiffness in your left shoulder?	Same as question 98
106	How often do you experience stiffness in your left upper arm?	Same as question 98
107	How often do you experience stiffness in your left elbow?	Same as question 98
108	How often do you experience stiffness in your left forearm?	Same as question 98
109	How often do you experience stiffness in your left wrist?	Same as question 98
110	How often do you experience stiffness in your left thumb?	Same as question 98
111	How often do you experience stiffness in the fingers of your left hand?	Same as question 98
112	How severe is the stiffness in your right shoulder?	0 = No stiffness 10 = Worst stiffness imaginable
113	How severe is the stiffness in your right upper arm?	Same as question 112
114	How severe is the stiffness in your right elbow?	Same as question 112
115	How severe is the stiffness in your right forearm?	Same as question 112
116	How severe is the stiffness in your right wrist?	Same as question 112
117	How severe is the stiffness in your right thumb?	Same as question 112
118	How severe is the stiffness in the fingers of your right hand?	Same as question 112
119	How severe is the stiffness in your left shoulder?	Same as question 112
120	How severe is the stiffness in your left upper arm?	Same as question 112
121	How severe is the stiffness in your left elbow?	Same as question 112
122	How severe is the stiffness in your left forearm?	Same as question 112
123	How severe is the stiffness in your left wrist?	Same as question 112
124	How severe is the stiffness in your left thumb?	Same as question 112
125	How severe is the stiffness in the fingers of your left hand?	Same as question 112
126	How limited are you due to the stiffness in your right shoulder?	0 = No limitations 10 = Fully limited
127	How limited are you due to the stiffness in your right upper arm?	Same as question 126
128	How limited are you due to the stiffness in your right elbow?	Same as question 126
129	How limited are you due to the stiffness in your right forearm?	Same as question 126
130	How limited are you due to the stiffness in your right wrist?	Same as question 126
131	How limited are you due to the stiffness in your right thumb?	Same as question 126
132	How limited are you due to the stiffness in the fingers of your right hand?	Same as question 126
133	How limited are you due to the stiffness in your left shoulder?	Same as question 126
134	How limited are you due to the stiffness in your left upper arm?	Same as question 126
135	How limited are you due to the stiffness in your left elbow?	Same as question 126
136	How limited are you due to the stiffness in your left forearm?	Same as question 126
137	How limited are you due to the stiffness in your left wrist?	Same as question 126
138	How limited are you due to the stiffness in your left thumb?	Same as question 126
139	How limited are you due to the stiffness in the fingers of your left hand?	Same as question 126
140	Which description is most suitable for you? (Brooke scale)	1 = Starting with my arms at my sides, I can lift both arms sideways in a full circle until they touch above my head 2 = I can raise both of my arms above my head only by flexing my elbow (i.e., shortening the circumference of the movement) or using trick movements 3 = I cannot raise my hands above my head but I can raise an 8-oz. (250 ml) glass of water to my mouth (by using one or both hands) 4 = I can raise my hands to my mouth (I can raise each hand separately) but I cannot raise an 8-oz. (250 ml) glass of water to my mouth 5 = I cannot raise my hand to my mouth but I can use my hands to hold a pen or pick up coins from the table 6 = I cannot raise my hands to my mouth and I have no useful function of my hands
141	Which description is most suitable for you? (Vignos scale)	1 = I walk and climb stairs without assistance 2 = I walk and climb stairs with aid of railing 3 = I walk and climb stairs slowly with aid of railing (over 12 s for 4 standard stairs) 4 = I walk unassisted and rise from chair but I cannot climb stairs 5 = I walk unassisted but I cannot arise from chair or climb stairs 6 = I walk only with assistance or I walk independently with long leg braces 7 = I walk in long leg braces but I require assistance for balance 8 = I stand in long leg braces but I am unable to walk even with assistance 9 = I am confined to a wheelchair 10 = I am confined to bed
142	Think about reaching out with your arm to touch something directly in front of you that is at shoulder level. How limited are you doing this using your right arm	1 = Totally limited 2 = Extremely limited 3 = Very limited 4 = Moderately limited 5 = Some limitation 6 = A little limited 7 = Not at all limited
143	Think about reaching out with your arm to touch something directly in front of you that is at shoulder level. How limited are you doing this using your left arm	Same as question 142
144	Think about raising your arm directly over your head, with your arm straight. How limited are you doing this using your right arm	Same as question 142
145	Think about raising your arm directly over your head, with your arm straight. How limited are you doing this using your left arm	Same as question 142
146	Think about reaching down to touch the floor and sitting back up straight, without hooking with your other arm or using it to pull yourself up. How limited are you doing this using your right arm?	Same as question 142
147	Think about reaching down to touch the floor and sitting back up straight, without hooking with your other arm or using it to pull yourself up. How limited are you doing this using your left arm?	Same as question 142
148	Think about raising a 5-pound object like a heavy blanket over your head using both arms. (Do not worry about whether you could grab it with your hands, just if you could raise something that heavy over your head). How limited are you doing this using both arms?	Same as question 142
149	Think about pulling or sliding (without grasping) a light object such as a can of soda, that is on a table, towards you. How limited are you doing this using your right arm?	Same as question 142
150	Think about pulling or sliding (without grasping) a light object such as a can of soda, that is on a table, towards you. How limited are you doing this using your left arm?	Same as question 142
151	Think about pulling or sliding (without grasping) a heavy object (up to 10 pounds), that is on a table, towards you. How limited are you doing this using your right arm?	Same as question 142
152	Think about pulling or sliding (without grasping) a heavy object (up to 10 pounds), that is on a table, towards you. How limited are you doing this using your left arm?	Same as question 142
153	Think about pushing a light object such as a can of soda on a table, away from you. How limited are you doing this using your right arm?	Same as question 142
154	Think about pushing a light object such as a can of soda on a table, away from you. How limited are you doing this using your left arm?	Same as question 142
155	Think about pushing a heavy object (up to 10 pounds) on a table, away from you. How limited are you doing this using your right arm?	Same as question 142
156	Think about pushing a heavy object (up to 10 pounds) on a table, away from you. How limited are you doing this using your left arm?	Same as question 142
157	Think about pushing down with both arms into your chair enough to lift your buttocks (both sides) off the seat (do a push-up weight shift). How limited are you doing this?	Same as question 142
158	With your hand on your lap palm down, think about curling your wrist upwards, keeping your arm on your lap. How limited are you doing this using your right arm?	Same as question 142
159	With your hand on your lap palm down, think about curling your wrist upwards, keeping your arm on your lap. How limited are you doing this using your left arm?	Same as question 142
160	Think about turning your hand over, keeping your elbow bent at your side (like turning a doorknob or a dial). How limited are you doing this using your right arm?	Same as question 142
161	Think about turning your hand over, keeping your elbow bent at your side (like turning a doorknob or a dial). How limited are you doing this using your left arm?	Same as question 142
162	Think about picking up a small object such as a paper clip or the cap of a tube of toothpaste with the tips of your thumb and first two fingers. How limited are you doing this using your right arm?	Same as question 142
163	Think about picking up a small object such as a paper clip or the cap of a tube of toothpaste with the tips of your thumb and first two fingers. How limited are you doing this using your left arm?	Same as question 142
164	Think about pinching and holding an object between your thumb and the side of your index finger, such as holding a key. How limited are you doing this using your right arm?	Same as question 142
165	Think about pinching and holding an object between your thumb and the side of your index finger, such as holding a key. How limited are you doing this using your left arm?	Same as question 142
166	Think about grasping a large object like the lid of a 2-pound jar of mayonnaise with the tips of the fingers hard enough to pick the jar up or open the lid. How limited are you doing this using your right arm?	Same as question 142
167	Think about grasping a large object like the lid of a 2-pound jar of mayonnaise with the tips of the fingers hard enough to pick the jar up or open the lid. How limited are you doing this using your left arm?	Same as question 142
168	Think about using your fingers to manipulate objects, such as holding a coin and turning it over and over with your fingers. How limited are you doing this using your right arm?	Same as question 142
169	Think about using your fingers to manipulate objects, such as holding a coin and turning it over and over with your fingers. How limited are you doing this using your left arm?	Same as question 142
170	Think about pressing something with the tip of your index finger (not knuckle) such as dialing a touch-tone phone or ringing a doorbell. How limited are you doing this using your right arm?	Same as question 142
171	Think about pressing something with the tip of your index finger (not knuckle) such as dialing a touch-tone phone or ringing a doorbell. How limited are you doing this using your left arm?	Same as question 142
	(ABILHAND) Describe for the following activities how well you have been able to implement these in the past 3 months, WITHOUT support of other people or assistive devices
172	Taking the cap off a bottle	1 = Impossible 2 = Difficult 3 = Easy 4 = I do not know
173	Cutting my nails	Same as question 174
174	Buttoning up a shirt	Same as question 174
175	Fastening the zipper of a jacket	Same as question 174
176	Turning a key in a keyhole	Same as question 174
177	Fastening a snap (e.g., from jacket or bag)	Same as question 174
178	Opening a pack of chips	Same as question 174
179	Opening a pack of biscuits	Same as question 174
180	Inserting a key in keyhole	Same as question 174
181	Turning off a tap	Same as question 174
182	Turning on a tap	Same as question 174
183	Filling a glass with water	Same as question 174
184	Sharpening a pencil	Same as question 174
185	Opening a lunch box	Same as question 174
186	Squeezing toothpaste onto a toothbrush	Same as question 174
187	Spreading butter on a slice of bread	Same as question 174
188	Opening a toothpaste tube	Same as question 174
189	Counting banknotes	Same as question 174
190	Dealing cards	Same as question 174
191	Unwrapping a chocolate bar	Same as question 174
192	Drying my hands	Same as question 174
193	Washing my hands	Same as question 174
194	Eat with a spoon	Same as question 174
195	Use fork and knife	Same as question 174
196	Drink a glass of water (without straw)	Same as question 174
197	Use keyboard of computer	Same as question 174
198	Which 5 ABILHAND items (question 174–199) are most important to you?
199	What are the most important problems you encounter in daily life due to limitations in arms and or hands in order of importance?	Open question
200	Do you go to school or attend other classes?	1 = No 2 = Yes
201	Do you encounter limitations in the arms and/or hands during school or study? (if question 202 = 2)	1 = No 2 = A little inconvenience 3 = Regular inconvenience 4 = Severe inconvenience 5 = Proper participation of the education is impossible due to limitations in arms/hands
202	Which activities at school are limited? (if question 203 = 2–6)	Open question
203	What is the highest education you have finished until now?	1 = Primary school 2 = Secondary school 3 = College 4 = University 5 = Special education
204	Do you work internships and volunteering work included?	1 = No 2 = Yes
205	What kind of work do you do more than one is possible? (if question 206 = 2)	Open question
206	Do you suffer from limitations in your arms and/or hands in carrying out your work? (if question 206 = 2)	1 = No 2 = A little inconvenience 3 = Regular inconvenience 4 = Severe inconvenience 5 = Proper participation of the education is impossible due to limitations in arms/hands
207	Which activities are limited? (if question 208 = 2–6)	Open question
208	Are you participating in sport?	1 = No 2 = Yes
209	What kind of sports? (if question 210 = 2)	Open question
210	Do you suffer from limitations in your arms and/or hands in doing your sport? (if question 210 = 2)	1 = No 2 = A little inconvenience 3 = Regular inconvenience 4 = Severe inconvenience 5 = Proper participation of the education is impossible due to limitations in arms/hands
211	Which activities are limited? (if question 212 = 2–6)	Open question
212	Do you have a hobby or leisure time activity?	1 = No 2 = Yes
213	What are your hobbies or leisure time activities? (if question 214 = 2)	Open question
214	Do you suffer from limitations in your arms and/or hands when performing these activities? (if question 214 = 2)	1 = No 2 = A little inconvenience 3 = Regular inconvenience 4 = Severe inconvenience 5 = Proper participation of the education is impossible due to limitations in arms/hands
215	Which activities are limited? (if question 216 = 2–6)	Open question
216	How many friends do you have?	1 = None 2 = 1–5 3 = 6–10 4 = More than 10
217	What kind of activities do you do with them?	Open question
218	Do you suffer from limitations in your arms and/or hands during these activities?	1 = No 2 = A little inconvenience 3 = Regular inconvenience 4 = Severe inconvenience 5 = Proper participation of the education is impossible due to limitations in arms/hands
219	Which activities are limited? (if question 220 = 2–6)	Open question
220	Do you have a romantic relationship?	1 = No 2 = Yes
221	Which activities do you like to do together more than one is possible? (if question 222 = 2)	Open question
222	Do you suffer from limitations in your arms and/or hands during these activities? (if question 222 = 2)	1 = No 2 = A little inconvenience 3 = Regular inconvenience 4 = Severe inconvenience 5 = Proper participation of the education is impossible due to limitations in arms/hands
223	Which activities are limited? (if question 224 = 2–6)	Open question
224	Comments	Open question