Patient-reported impact of symptoms in adrenoleukodystrophy (PRISM-ALD)

Varma, Anika; Weinstein, Jennifer; Seabury, Jamison; Rosero, Spencer; Dilek, Nuran; Heatwole, John; Engebrecht, Charlotte; Khosa, Shaweta; Chung, Kaitlin; Paker, Asif; Woo, Amy; Brooks, Gregory; Beals, Chan; Gandhi, Rohan; Heatwole, Chad

doi:10.1186/s13023-024-03129-6

Orphanet Journal of Rare Diseases

Table 3 Prevalence of symptomatic themes in ALD for the overall sample (n = 109) and subgroups of individuals with ALD

From: Patient-reported impact of symptoms in adrenoleukodystrophy (PRISM-ALD)

	Overall prevalence (%) of full sample (n = 109)
A: Theme
Limitations with mobility or walking	87.2
Problems with balance	90.8
Inability to do activities	82.6
Trouble getting around	75.2
Leg weakness	86.2
Pain	74.3
Stiffness	84.4
Fatigue	86.2
Gastrointestinal issues	64.2
Decreased satisfaction in social situations	73.4
Emotional issues	78.0
Communication difficulties	41.3
Difficulty thinking	47.2
Impaired sleep or daytime sleepiness	71.6
Back, chest, or abdominal weakness	51.9
Problems with shoulders or arms	45.0
Numbness	68.8
Choking or swallowing issues	26.6
Abnormal movements	52.3
Problems with hands or fingers	44.0
Breathing difficulties	13.9
Seizures	6.5
Impaired vision	31.5
Difficulty hearing	31.2

	Age (years)
	Prevalence (%)
	Above mean (> 51 years) (n = 61)	Equal to or below mean (≤ 51 years) (n = 48)	p value
B: Theme
Limitations with mobility or walking	95.08	77.08	0.0080*
Problems with balance	96.72	83.33	0.0209*
Inability to do activities	86.89	77.08	0.2098
Trouble getting around	80.33	68.75	0.1855
Leg weakness	90.16	81.25	0.2627
Pain	81.97	64.58	0.0482*
Stiffness	90.16	77.08	0.0695
Fatigue	88.52	83.33	0.5769
Gastrointestinal issues	67.21	60.42	0.5471
Decreased satisfaction in social situations	70.49	77.08	0.5155
Emotional issues	73.77	83.33	0.2544
Communication difficulties	39.34	43.75	0.6975
Difficulty thinking	50.00	43.75	0.5642
Impaired sleep or daytime sleepiness	75.41	66.67	0.3933
Back, chest, or abdominal weakness	48.33	56.25	0.4436
Problems with shoulders or arms	50.82	37.50	0.1802
Numbness	70.49	66.67	0.6827
Choking or swallowing issues	29.51	22.92	0.5155
Abnormal movements	55.74	47.92	0.4453
Problems with hands or fingers	50.82	35.42	0.1233
Breathing difficulties	16.67	10.42	0.4113
Seizures	5.00	8.33	0.6975
Impaired vision	31.67	31.25	1.0000
Difficulty hearing	40.98	18.75	0.0212*

	Sex
	Prevalence (%)
	Male (n = 47)	Female (n = 62)	p value
C: Theme
Limitations with mobility or walking	91.49	83.87	0.2660
Problems with balance	93.62	88.71	0.5100
Inability to do activities	93.62	74.19	0.0100*
Trouble getting around	91.49	62.9	0.0006*
Leg weakness	93.62	80.65	0.0896
Pain	72.34	75.81	0.8252
Stiffness	89.36	80.65	0.2889
Fatigue	87.23	85.48	1.0000
Gastrointestinal issues	63.83	64.52	1.0000
Decreased satisfaction in social situations	80.85	67.74	0.1887
Emotional issues	80.85	75.81	0.6425
Communication difficulties	46.81	37.10	0.3319
Difficulty thinking	48.94	45.90	0.8464
Impaired sleep or daytime sleepiness	65.96	75.81	0.2891
Back, chest, or abdominal weakness	59.57	45.90	0.1782
Problems with shoulders or arms	40.43	48.39	0.4419
Numbness	74.47	64.52	0.3019
Choking or swallowing issues	14.89	35.48	0.0174*
Abnormal movements	61.70	45.16	0.1212
Problems with hands or fingers	36.17	50.00	0.1755
Breathing difficulties	10.64	16.39	0.5759
Seizures	12.77	1.64	0.0414*
Impaired vision	25.53	36.07	0.2981
Difficulty hearing	25.53	35.48	0.3019

	Education level
	Prevalence (%)
	High school, Technical school, none (n = 52)	College, Masters, Doctorate (n = 57)	p value
D: Theme
Limitations with mobility or walking	88.46	85.96	0.7794
Problems with balance	94.23	87.72	0.3257
Inability to do activities	88.46	77.19	0.1375
Trouble getting around	80.77	70.18	0.2674
Leg weakness	88.46	84.21	0.5864
Pain	82.69	66.67	0.0787
Stiffness	86.54	82.46	0.6063
Fatigue	94.23	78.95	0.0261*
Gastrointestinal issues	61.54	66.67	0.6896
Decreased satisfaction in social situations	78.85	68.42	0.2792
Emotional issues	76.92	78.95	0.821
Communication difficulties	40.38	42.11	1
Difficulty thinking	47.06	47.37	1
Impaired sleep or daytime sleepiness	78.85	64.91	0.1378
Back, chest, or abdominal weakness	56.86	47.37	0.342
Problems with shoulders or arms	55.77	35.09	0.0354*
Numbness	63.46	73.68	0.3026
Choking or swallowing issues	30.77	22.81	0.3904
Abnormal movements	59.62	45.61	0.18
Problems with hands or fingers	51.92	36.84	0.1263
Breathing difficulties	15.69	12.28	0.7815
Seizures	5.88	7.02	1
Impaired vision	37.25	26.32	0.2996
Difficulty hearing	36.54	26.32	0.3026

	Employment status
	Prevalence (%)
	Not working (n = 24)	Working (n = 85)	p value
E: Theme
Limitations with mobility or walking	95.83	84.71	0.2968
Problems with balance	100.00	88.24	0.1134
Inability to do activities	87.50	81.18	0.5586
Trouble getting around	87.50	71.76	0.1794
Leg weakness	87.50	85.88	1.0000
Pain	95.83	68.24	0.0068*
Stiffness	95.83	81.18	0.1124
Fatigue	100.00	82.35	0.0383*
Gastrointestinal issues	66.67	63.53	0.8149
Decreased satisfaction in social situations	79.17	71.76	0.6040
Emotional issues	100.00	71.76	0.0016*
Communication difficulties	58.33	36.47	0.0638
Difficulty thinking	60.87	43.53	0.1628
Impaired sleep or daytime sleepiness	83.33	68.24	0.2020
Back, chest, or abdominal weakness	70.83	46.43	0.0397*
Problems with shoulders or arms	58.33	41.18	0.1660
Numbness	87.50	63.53	0.0265*
Choking or swallowing issues	29.17	25.88	0.7957
Abnormal movements	75.00	45.88	0.0195*
Problems with hands or fingers	50.00	42.35	0.6421
Breathing difficulties	25.00	10.71	0.0952
Seizures	8.33	5.95	0.6501
Impaired vision	33.33	30.95	0.8084
Difficulty hearing	16.67	35.29	0.1328

	Disability status
	Prevalence (%)
	On disability (n = 16)	Not on disability (n = 93)	p value
F: Theme
Limitations with mobility or walking	100.00	84.95	0.2163
Problems with balance	100.00	89.25	0.3524
Inability to do activities	87.50	81.72	0.7331
Trouble getting around	87.50	73.12	0.3481
Leg weakness	87.50	86.02	1.0000
Pain	93.75	70.97	0.0655
Stiffness	100.00	81.72	0.0711
Fatigue	100.00	83.87	0.1205
Gastrointestinal issues	62.50	64.52	1.0000
Decreased satisfaction in social situations	75.00	73.12	1.0000
Emotional issues	100.00	74.19	0.0204*
Communication difficulties	68.75	36.56	0.0258*
Difficulty thinking	53.33	46.24	0.7815
Impaired sleep or daytime sleepiness	81.25	69.89	0.5494
Back, chest, or abdominal weakness	62.50	50.00	0.4232
Problems with shoulders or arms	56.25	43.01	0.4170
Numbness	81.25	66.67	0.3816
Choking or swallowing issues	43.75	23.66	0.1248
Abnormal movements	68.75	49.46	0.1832
Problems with hands or fingers	50.00	43.01	0.7860
Breathing difficulties	25.00	11.96	0.2318
Seizures	12.50	5.43	0.2766
Impaired vision	31.25	31.52	1.0000
Difficulty hearing	18.75	33.33	0.3816

	Has ALD impacted your employment status or choice?
	Prevalence (%)
	Yes (n = 60)	No (n = 40)	p value
G: Theme
Limitations with mobility or walking	93.33	77.50	0.0321*
Problems with balance	95.00	85.00	0.1505
Inability to do activities	93.33	67.50	0.0011*
Trouble getting around	88.33	60.00	0.0015*
Leg weakness	91.67	80.00	0.1287
Pain	88.33	55.00	0.0003*
Stiffness	91.67	72.50	0.0134*
Fatigue	90.00	80.00	0.2387
Gastrointestinal issues	66.67	60.00	0.5291
Decreased satisfaction in social situations	85.00	55.00	0.0013*
Emotional issues	90.00	55.00	< 0.0001*
Communication difficulties	55.00	20.00	0.0008*
Difficulty thinking	61.02	32.50	0.0076*
Impaired sleep or daytime sleepiness	80.00	55.00	0.0135*
Back, chest, or abdominal weakness	64.41	32.50	0.0022*
Problems with shoulders or arms	55.00	25.00	0.0039*
Numbness	80.00	52.50	0.0045*
Choking or swallowing issues	31.67	17.50	0.1625
Abnormal movements	68.33	27.50	< 0.0001*
Problems with hands or fingers	51.67	32.50	0.0672
Breathing difficulties	16.95	2.50	0.0461*
Seizures	10.17	2.50	0.2361
Impaired vision	35.59	22.50	0.1874
Difficulty hearing	30.00	35.00	0.6642

	Years since first noticed symptoms
	Prevalence (%)
	Above mean (> 15 years) (n = 51)	Equal to or below mean (≤ 15 years) (n = 57)	p value
H: Theme
Limitations with mobility or walking	92.16	84.21	0.2468
Problems with balance	94.12	89.47	0.4953
Inability to do activities	86.27	78.95	0.4485
Trouble getting around	86.27	66.67	0.0237*
Leg weakness	88.24	84.21	0.5893
Pain	82.35	66.67	0.0797
Stiffness	90.20	78.95	0.1220
Fatigue	90.20	82.46	0.2782
Gastrointestinal issues	70.59	57.89	0.2287
Decreased satisfaction in social situations	76.47	70.18	0.5185
Emotional issues	78.43	77.19	1.0000
Communication difficulties	50.98	33.33	0.0794
Difficulty thinking	54.00	42.11	0.2483
Impaired sleep or daytime sleepiness	76.47	68.42	0.3948
Back, chest, or abdominal weakness	62.00	42.11	0.0528
Problems with shoulders or arms	58.82	31.58	0.0065*
Numbness	74.51	64.91	0.3030
Choking or swallowing issues	37.25	17.54	0.0293*
Abnormal movements	64.71	42.11	0.0217*
Problems with hands or fingers	56.86	31.58	0.0114*
Breathing difficulties	26.00	3.51	0.0014*
Seizures	8.00	5.26	0.7031
Impaired vision	30.00	31.58	1.0000
Difficulty hearing	39.22	24.56	0.1459

	Diagnosed with AMN?
	Prevalence (%)
	Yes (n = 71)	No (n = 27)	p value
I: Theme
Limitations with mobility or walking	94.37	70.37	0.0030*
Problems with balance	95.77	85.19	0.0886
Inability to do activities	88.73	66.67	0.0161*
Trouble getting around	81.69	62.96	0.1974
Leg weakness	91.55	77.78	0.0852
Pain	81.69	59.26	0.0339*
Stiffness	92.96	70.37	0.0063*
Fatigue	87.32	85.19	0.7487
Gastrointestinal issues	70.42	51.85	0.1000
Decreased satisfaction in social situations	76.06	62.96	0.2135
Emotional issues	78.87	77.78	1.0000
Communication difficulties	45.07	29.63	0.1779
Difficulty thinking	50.00	37.04	0.2673
Impaired sleep or daytime sleepiness	71.83	70.37	1.0000
Back, chest, or abdominal weakness	52.11	51.85	1.0000
Problems with shoulders or arms	46.68	37.04	0.4962
Numbness	76.06	44.44	0.0041*
Choking or swallowing issues	25.35	25.93	1.0000
Abnormal movements	57.75	44.44	0.2638
Problems with hands or fingers	45.07	33.33	0.3621
Breathing difficulties	14.08	11.11	1.0000
Seizures	5.63	3.70	1.0000
Impaired vision	21.13	44.44	0.0409
Difficulty hearing	25.35	40.74	0.1462

	Diagnosed with cerebral ALD?
	Prevalence (%)
	Yes (n = 18)	No (n = 81)	p value
J: Theme
Limitations with your mobility or walking	83.33	86.42	0.7152
Problems with balance	77.78	92.59	0.0800
Inability to do activities	88.89	80.25	0.5138
Trouble getting around	77.78	74.07	1.0000
Leg weakness	77.78	86.42	0.4653
Pain	66.67	76.54	0.3826
Stiffness	77.78	86.42	0.4653
Fatigue	83.33	86.42	0.7152
Gastrointestinal issues	66.67	62.96	1.0000
Decreased satisfaction in social situations	83.33	72.94	0.5495
Emotional issues	88.89	77.78	0.5158
Communication difficulties	50	37.04	0.4243
Difficulty thinking	50	46.25	0.7994
Impaired sleep or daytime sleepiness	66.67	71.6	0.7758
Back, chest, or abdominal weakness	55.56	48.75	0.7948
Problems with shoulders or arms	50	41.98	0.6038
Numbness	72.22	67.9	0.7868
Choking or swallowing issues	22.22	27.16	0.7743
Abnormal movements	66.67	50.62	0.2975
Problems with hands or fingers	44.44	44.44	1
Breathing difficulties	16.67	11.25	0.6899
Seizures	11.11	6.25	0.609
Impaired vision	38.89	26.25	0.3861
Difficulty hearing	22.22	30.86	0.5748

	Diagnosed with Addison's disease (adrenal insufficiency)?
	Prevalence (%)
	Yes (n = 35)	No (n = 71)	p value
K: Theme
Limitations with mobility or walking	88.57	85.92	1.0000
Problems with balance	94.29	88.73	0.4913
Inability to do activities	91.43	77.46	0.1068
Trouble getting around	91.43	66.20	0.0046*
Leg weakness	91.43	83.10	0.3756
Pain	68.57	76.06	0.4841
Stiffness	85.71	83.10	1.0000
Fatigue	88.57	84.51	0.7688
Gastrointestinal issues	62.86	64.79	1.0000
Decreased satisfaction in social situations	77.14	70.42	0.4984
Emotional issues	80.00	76.06	0.8061
Communication difficulties	42.86	38.03	0.6762
Difficulty thinking	48.57	44.29	0.6842
Impaired sleep or daytime sleepiness	65.71	73.24	0.4975
Back, chest, or abdominal weakness	57.14	49.30	0.5365
Problems with shoulders or arms	28.57	50.70	0.0379*
Numbness	77.14	64.79	0.2655
Choking or swallowing issues	17.14	30.99	0.1626
Abnormal movements	65.71	45.07	0.0627
Problems with hands or fingers	40.00	46.48	0.5419
Breathing difficulties	14.29	14.08	1.0000
Seizures	14.29	2.82	0.0381*
Impaired vision	31.43	32.39	1.0000
Difficulty hearing	28.57	32.39	0.8243

	Ambulatory status
	Prevalence (%)
	Mobility assistance needed (n = 59)	Walk independently (n = 50)	p value
L: Theme
Limitations with mobility or walking	98.31	74.00	0.0002*
Problems with balance	100.00	80.00	0.0002*
Inability to do activities	100.00	62.00	< 0.0001*
Trouble getting around	98.31	48.00	< 0.0001*
Leg weakness	96.61	74.00	0.0007*
Pain	81.36	66.00	0.0808
Stiffness	93.22	74.00	0.0077*
Fatigue	91.53	80.00	0.0991
Gastrointestinal issues	64.41	64.00	1.0000
Decreased satisfaction in social situations	83.05	62.00	0.0169*
Emotional issues	81.36	74.00	0.3661
Communication difficulties	50.85	30.00	0.0329*
Difficulty thinking	51.72	42.00	0.3394
Impaired sleep or daytime sleepiness	74.58	68.00	0.5247
Back, chest, or abdominal weakness	63.79	38.00	0.0117*
Problems with shoulders or arms	49.15	40.00	0.4398
Numbness	74.58	62.00	0.2132
Choking or swallowing issues	32.20	20.00	0.1932
Abnormal movements	62.71	40.00	0.0217*
Problems with hands or fingers	42.37	46.00	0.8466
Breathing difficulties	13.79	14.00	1.0000
Seizures	10.34	2.00	0.1200
Impaired vision	34.48	28.00	0.5360
Difficulty hearing	33.90	28.00	0.5401

	Speech status
	Prevalence (%)
	Speech change (n = 20)	Talks clearly (n = 89)	p value
M: Theme
Limitations with mobility or walking	100.00	84.27	0.0685
Problems with balance	100.00	88.76	0.2028
Inability to do activities	95.00	79.78	0.1883
Trouble getting around	100.00	69.66	0.0030*
Leg weakness	100.00	83.15	0.0682
Pain	85.00	71.91	0.2713
Stiffness	95.00	82.02	0.1897
Fatigue	90.00	85.39	0.7335
Gastrointestinal issues	75.00	61.80	0.3119
Decreased satisfaction in social situations	95.00	68.54	0.0222*
Emotional issues	100.00	73.03	0.0059*
Communication difficulties	100.00	28.09	< 0.0001*
Difficulty thinking	73.68	41.57	0.0126*
Impaired sleep or daytime sleepiness	95.00	66.29	0.0117*
Back, chest, or abdominal weakness	78.95	46.07	0.0113*
Problems with shoulders or arms	75.00	38.2	0.0052*
Numbness	95.00	62.92	0.0061*
Choking or swallowing issues	75.00	15.73	< 0.0001*
Abnormal movements	80.00	46.07	0.0067*
Problems with hands or fingers	75.00	37.08	0.0026*
Breathing difficulties	42.11	7.87	0.0007*
Seizures	5.26	6.74	1.0000
Impaired vision	47.37	28.09	0.1110
Difficulty hearing	35.00	30.34	0.7903

	Functional ability
	Prevalence (%)
	Slight through severe disability (n = 79)	No symptoms or no significant disability (n = 30)	p value
N: Theme
Limitations with mobility or walking	98.73	56.67	< 0.0001*
Problems with balance	97.47	73.33	0.0005*
Inability to do activities	98.73	40.00	< 0.0001*
Trouble getting around	94.94	23.33	< 0.0001*
Leg weakness	96.2	60.00	< 0.0001*
Pain	84.81	46.67	0.0001*
Stiffness	92.41	63.33	0.0005*
Fatigue	93.67	66.67	0.0008*
Gastrointestinal issues	68.35	53.33	0.1807
Decreased satisfaction in social situations	84.81	43.33	< 0.0001*
Emotional issues	83.54	63.33	0.0367*
Communication difficulties	51.90	13.33	0.0002*
Difficulty thinking	55.13	26.67	0.0099*
Impaired sleep or daytime sleepiness	77.22	56.67	0.0555
Back, chest, or abdominal weakness	61.54	26.67	0.0013*
Problems with shoulders or arms	54.43	20.00	0.0013*
Numbness	77.22	46.67	0.0048*
Choking or swallowing issues	29.11	20.00	0.4674
Abnormal movements	64.56	20.00	< 0.0001*
Problems with hands or fingers	48.10	33.33	0.1983
Breathing difficulties	15.38	10.00	0.5518
Seizures	8.97	0.00	0.1866
Impaired vision	34.62	23.33	0.3556
Difficulty hearing	30.38	33.33	0.8187

	Home health aide per week
	Prevalence (%)
	Receive aide (n = 34)	None (n = 75)	p value
O: Theme
Limitations with mobility or walking	100.00	81.33	0.0046*
Problems with balance	100.00	86.67	0.0292*
Inability to do activities	100.00	74.67	0.0006*
Trouble getting around	100.00	64.00	< 0.0001*
Leg weakness	94.12	82.67	0.1395
Pain	82.35	70.67	0.2414
Stiffness	97.06	78.67	0.0199*
Fatigue	97.06	81.33	0.0340*
Gastrointestinal issues	70.59	61.33	0.3947
Decreased satisfaction in social situations	88.24	66.67	0.0199*
Emotional issues	91.18	72.00	0.0265*
Communication difficulties	52.94	36.00	0.1410
Difficulty thinking	52.94	44.59	0.5340
Impaired sleep or daytime sleepiness	79.41	68.00	0.2585
Back, chest, or abdominal weakness	72.73	42.67	0.0062*
Problems with shoulders or arms	61.76	37.33	0.0226*
Numbness	76.47	65.33	0.2733
Choking or swallowing issues	38.24	21.33	0.1001
Abnormal movements	76.47	41.33	0.0008*
Problems with hands or fingers	55.88	38.67	0.1014
Breathing difficulties	18.18	12.00	0.3837
Seizures	18.18	1.33	0.0031*
Impaired vision	33.33	30.67	0.8241
Difficulty hearing	38.24	28.00	0.3723

*Values of p < 0.05 are marked by an asterisk, and values of statistical significance, by the Benjamini–Hochberg method, are bolded

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