Long term disease burden post-transplantation: three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT)

Guffon, N.; Pettazzoni, M.; Pangaud, N.; Garin, C.; Lina-Granade, G.; Plault, C.; Mottolese, C.; Froissart, R.; Fouilhoux, A.

doi:10.1186/s13023-020-01644-w

Orphanet Journal of Rare Diseases

Table 3 Long-term evaluation of neurocognitive development among 25 MPSI-H patients

From: Long term disease burden post-transplantation: three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT)

Case ID	Genotype	Sex	Current age	Age at HSCT (months)	Mean QD scores (Years of age)					WISC III or IV (8–10 years of age)					WISC III or IV (10–13 years of age)					WISC IV (13–17 years of age)					WAIS IV (17 + years of age)
Case ID	Genotype	Sex	Current age	Age at HSCT (months)	Baseline	1–2 years	2–4 years	4–6 years	6–8 years	VCI	PRI	WMI	PSI	FSIQ	VCI	PRI	WMI	PSI	FSIQ	VCI	PRI	WMI	PSI	FSIQ	VCI	PRI	WMI	PSI	FSIQ
1	W402X/Q70X	f	34	14	75	77		97							VIQ 103				95						100	66	71	66	71
2	Q70X/c.1190-10C > A	m	37	58	95			95	90					90	VIQ 87	PIQ 92			88						86	78	58	64	67
3	W402X/134del12	f	32	42	77		77	90	100	VIQ85				85											73	88	77	89	77
4	W402X/W402X	f	27	14	100	80	83	83	84	VIQ82	PIQ71			73	VIQ 72	PIQ75			70	80	60	60	55	53	77	58	55	58	53
5	1041_1042 del CA/1041_1042 del CA	f	24	42	70		70												30					< 30					< 30
6	1124 del C /W402X	m	–	23	94	94	72	90	84					82					77					53	DCD	DCD	DCD	DCD	DCD
7	W402X/Q70X	m	23	14	100	100	99												84						69	64	61	58	55
8	c.50_61del12/W402X	m	24	21	90	90	73	80	77					68					67	63	102			64	65	69	55	54	61
9	W402X/W402X	f	24	25	70	70	91	80	73					58					46					35					< 30^b
10	W402X/W402X	f	23	26	100	100	85	93	85	R	R	R	R	R	88	69	64	50	61	B	B	B	B	B	B	B	B	B	B
11	Q70X/W402X	f	22	16	93	93	100	93	97	98	81	79	86	80					80					72	86	74	74	61	69
12	W402X/Q70X	m	22	19	83	81	88	82	79					79					73						73	74	77	50	65
13	Q70X/A327P	f	22	34	82	82	89	82	62					59					52					30					< 30
14	W402X/W402X	f	21	25	80	80	69	77	89					88	92	88	115	112	100	86	84	115	93	90	89	87	88	87	80
15	P533R/c.1273_1274insC	f	20	23	88	87	84	96	87					87					88					76	79	84	94	81	79
16	W402X/W402X	f	19	12	80	80		100	100						101	82	109	86	92					82	84	78	83	72	75
17	W402X/Y581X	m	20	31	94		93	86	85					84					76	103	70	80	92	79	84	62	83	75	70
18	W402X/W402X	m	19	18	86	91	79	77	75					69					58					50	61	68	66	50	52
19	Q70X/W402X	f	20	28	80	81	83	80	77	69	67	56	69	53					71	72	69	76	81	66	79	66	68	69	63
20	W402X/W402X	f	19	25	86	86	95	78	76	79	96	62	83	75	94	79	58	81	73					70	75	82	66	75	69
21	Q70X/W402X	m	17	20	79	79	79	82	80	108	88	70	76	83	86	79	62	66	68						79	86	68	58	69
22	W402X/W402X	m	17	31	70		70	60	46					40					40	45	45	50	50	40					NA
23	Q70X/c.792 + 1G > A in intron 5	f	10	13	77	83	96	94	95					93	96	81	91	93	86					NA					NA
24	ND in USA	m	9	12	100	100				96	94	70	90	86					NA					NA					NA
25	W402X/W402X	f	8	13	88	66	50^a	< 30	< 30					< 30					NA					NA					NA
			N		25	20	21	22	21	7	6	5	5	20	9	8	6	6	22	6	6	5	5	15	16	16	16	16	19
			Mean		85.5	85.0	83.8	85.5	82.1	90.0	85.2	67.4	80.8	75.4	92.8	79.7	83.2	81.3	71.6	74.8	71.7	76.2	74.2	61.4	78.7	74.0	71.5	66.7	67.2
			std		9.8	9.4	10.0	9.4	12.8	15.7	11.7	8.8	8.3	14.3	5.5	6.2	25.3	21.5	18.1	19.9	19.6	24.8	20.4	18.4	9.7	9.6	11.6	12.3	8.7
			Median		86.0	82.5	83.5	83.0	84.0	96.0	88.0	70.0	83.0	80.0	93.0	80.0	77.5	83.5	73.0	76.0	69.5	76.0	81.0	65.0	79.0	74.0	69.5	65.0	69.0
			Min		70.0	66.0	69.0	60.0	46.0	69.0	67.0	56.0	69.0	40.0	86.0	69.0	58.0	50.0	30.0	45.0	45.0	50.0	50.0	30.0	61.0	58.0	55.0	50.0	52.0
			Max		100.0	100.0	100.0	100.0	100.0	108.0	96.0	79.0	90.0	93.0	101.0	88.0	115.0	112.0	100.0	103.0	102.0	115.0	93.0	90.0	100.0	88.0	94.0	89.0	80.0

PIQ performance index, VIQ verbal intellectual quotient, VCI verbal comprehension index, PRI perceptual reasoning index, WMI working memory index, PSI processing speed index, FSIQ full scale intelectual quotient
^aAutism diagnosed at 2 years of age
^bDimentia diagnosed at 19 years of age; R refused, B blind, DCD deceased, NA not applicable

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ISSN: 1750-1172

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