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 4 Psychosocial functioning and adaptation: Scholastic level, Mental age, work activity, Psychiatric manifestations, and living arrangements

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	YOB (year)	YoHSCT (year)	Current age (years)	Best attained Scolastic Level	Mental age at last evaluation	Current activity/work status	Psychiatric manifestations		Mobility	Guardian	Living arrangement
Case ID	Genotype	YOB (year)	YoHSCT (year)	Current age (years)	Best attained Scolastic Level	Mental age at last evaluation	Current activity/work status	Status	Age at onset	Mobility	Guardian	Living arrangement
1	W402X/Q70X	1984	1986	34	^BHigh school vocational degree	16	Unable to work since 2016	Depression, multiple APE	29^APE, 30^APE, 31^APE 31^D	Able to walk	No	Home
2	Q70X/c.1190-10C>A	1982	1987	37	^CMPrimary	9–10	No activity	none		Able to walk^Dr	Curatorship	Home
3	W402X/134del12	1987	1990	32	^BHigh school vocational degree	16	Partial protected work	Depression	22^D	Wheelchair, crutch ^Dr	No	Home
4	W402X/W402X	1991	1993	27	^CMPrimary	9–10	Adult day care facility (unable to work)	Depression	19^D	Wheelchair, cane, walker	Curatorship	Nursing home
5	1041_1042 del CA/1041_1042 del CA	1994	1998	24	^MPre-school	4	Adult day care facility (unable to work)	Depression	16^D	Wheelchair, can walk short distance	Tutorship	Home
6	1124 del C /W402X	1994	1996	Died	^CEPrimary	7–8	Died	None		Wheelchair-bound**	Died	Died
7	W402X/Q70X	1995	1996	24	^CMPrimary	9–10	Occupational activity	Depression	20^D	Able to walk	Curatorship	Between Home and Nursing Home
8	c.50_61del12/W402X	1995	1997	24	^CMPrimary	10–11	Unable to work	None		Wheelchair, can walk short distance	Tutorship	Home
9	W402X/W402X	1995	1997	24	^MPre-school	2	Unable to work	Dementia	19^DM	Wheelchair-bound	Tutorship	Home
10	W402X/W402X	1995	1998	23	^CMPrimary	11–12	Adult day care facility (unable to work)	Depression	13^D	Wheelchair-bound	tutorship	Nursing home
11	Q70X/W402X	1997	1998	22	^BHigh school vocational degree	16	Unable to work	None		Able to walk ^Dr	No	Lives with boyfriend
12	W402X/Q70X	1997	1998	22	^CMPrimary	10	Unable to work	Depression, hyperactivity	5-16^H, 15^D	Wheelchair, walker	Tutorship	Home
13	Q70X/A327P	1996	1999	22	^MPre-school	6	Adult day care facility (unable to work)	None		Wheelchair-bound	Tutorship	Nursing home
14	W402X/W402X	1997	1999	21	^CMiddle school	13–14	No activity	Depression	20^D	Wheelchair, walker	Tutorship	Home
15	P533R/c.1273_1274insC	1998	2000	20	^CMiddle school	15–16	Unable to work	Depression, multiple APE	16^D, 18^APE,19^APE	Able to walk	No	Home
16	W402X/W402X	2000	2001	19	^BHigh school vocational degree	16	Adult day care facility	Depression	17^D	Wheelchair, can walk short distance	No	Between home and nursing home
17	W402X/Y581X	1998	2001	20	^CMiddle school	13–14	Professionnal school	Depression, Hyperactivity, multiple APE	13^D, 5-10^H, 17^APE, 19^APE	Able to walk	Tutorship	Home
18	W402X/W402X	1999	2001	19	^CEPrimary	7	Adult day care facility (unable to work)	Hyperactivity		Wheelchair, walker	Tutorship	Home
19	Q70X/W402X	1999	2001	20	^CMprimary	14–15	Job training	None		Able to walk	Tutorship	Nursing home
20	W402X/W402X	2000	2003	19	^CMprimary	14–15	Job training	Depression	18^D	Wheelchair, cane	Tutorship	Home
21	Q70X/W402X	2001	2002	17	^CMprimary	14–15	Adult day care facility (unable to work)	Depression	17^D	Wheelchair, 2 canes	Curatorship	Between home and nursing home
22	W402X/W402X	2001	2004	17	^Mpre-school	5–6	Adult day care facility (unable to work)	Hyperactivity		Wheelchair, can walk short distance	Curatorship	Home
23	Q70X/c.792 + 1G > A in intron 5	2008	2009	10	^CMprimary	9	In school	None		Wheelchair, can walk short distance	NA	Home
24	ND in USA	2010	2011	9	^CEprimary	7	In school	None		able to walk,	NA	Home
25	W402X/W402X	2010	2011	8	None	2	IME*	Autism	2^A	Able to walk	NA	Between home and nursing home

YOB year of birth, YoHSCT year of transplant; [Scholastic level completed: M maternelle, CE cours élémentaire, CM cours moyen, C collège, B Bac Pro]; [Mental Age as determined by speech therapist based on the best scolastic level achieved]; [current activity/work status: *IME: medico-educational institution]; [Psychiatric Manifestations: APE: acute psychotic episode; A: autism, D: depression, DM: dementia, H: hyperactivity/attention deficit disorder, none: absence of psychiatric manifestation]; [Mobility: Dr: drives a car; **prior to death]

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ISSN: 1750-1172

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