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2016 ; 7
(ä): 27-31
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Association of somatic burden of disease with age and neuropsychological measures
in attenuated mucopolysaccharidosis types I, II and VI
#MMPMID27114913
Ahmed A
; Shapiro E
; Rudser K
; Kunin-Batson A
; King K
; Whitley CB
Mol Genet Metab Rep
2016[Jun]; 7
(ä): 27-31
PMID27114913
show ga
INTRODUCTION: The mucopolysaccharidoses (MPSs) are a group of rare genetic
lysosomal disorders with progressive multisystem involvement. An MPS-specific
physical symptom scale was developed and introduced a Physical Symptom Score
(PSS) to quantify the somatic disease burden across MPS I, II and VI. HYPOTHESIS:
Somatic burden of disease in patients with attenuated MPS I, II and VI as
measured by the PSS will be positively associated with age and negatively
associated with neuropsychological functions [i.e. full scale intelligence
quotient (FSIQ) and attention]. MATERIALS AND METHODS: Forty-eight patients with
attenuated MPS I (n = 24), II (n = 14), and VI (n = 10) aged 6 to 32 years on
enzyme replacement therapy who were enrolled in "Longitudinal Studies of Brain
Structure and Functions in MPS Disorders" across seven centers. Somatic disease
burden was measured by the PSS. Neuropsychological functions were measured by the
Wechsler Abbreviated Scale of Intelligence (WASI) and Test of Variables of
Attention (TOVA). RESULTS: PSS was positively associated with age in attenuated
MPS I (P < 0.001), MPS II (P < 0.01) and MPS VI (P < 0.05). There was a negative
association of PSS with FSIQ in attenuated MPS I (P < 0.001) and in MPS VI
(P < 0.001) but not with MPS II. Although attention scores were below average in
all groups, a significant negative association between PSS and one measures of
sustained attention (TOVA d prime) was found only in MPS VI. CONCLUSIONS:
Physical Symptom Score increased with age in attenuated MPS I, II and VI,
reflecting progressive somatic burden of disease despite treatment with enzyme
replacement therapy. Furthermore, the association of increased somatic disease
burden with decreased neurocognitive ability suggests that both measures reflect
disease severity and are not independent.