Health-related quality of life in mucopolysaccharidosis: looking beyond biomedical issues

Hendriksz, Christian J.; Berger, Kenneth I.; Lampe, Christina; Kircher, Susanne G.; Orchard, Paul J.; Southall, Rebecca; Long, Sarah; Sande, Stephen; Gold, Jeffrey I.

doi:10.1186/s13023-016-0503-2

Orphanet Journal of Rare Diseases

Table 1 PROs used in patients with MPS

Name questionnaire	Acronym	Age range (yrs)	Assessment of	Completed by^a	Reference
Symptom PROs
Pain Visual Analog Scales^b	VAS	≥8	Pain intensity	Patient
Adolescent Pediatric Pain Tool	APPT	8–17	Pain location, description and intensity	Patient	[60, 61]
Brief Pain Inventory Short Form	BPI-SF	Adults	Severity of pain, impact of pain on daily function, location of pain, use of pain medications, amount of pain relief	Patient	[30, 62]
Six-face Faces Pain Scale-Revised	FPS-R	≥8	Pain intensity	Patient	[15]
Non-communicating Children’s pain Checklist-Revised	NCCPC-R	3–18^c	Pain-associated behavior	Observer	[15, 63]
Achenbach System of Empirically Based Assessment Adult Self Report	ASEBA ASR	18–59	Social-adaptive and psychological symptoms	Patient	[30]
Achenbach System of Empirically Based Assessment Older Adult Self Report	ASEBA OASR	≥60	Social-adaptive and psychological symptoms	Patient	[30]
Yatabe-Guilford Personality test^d	Y-G test	NA	personality and psychiatric aspects	Patient	[31]
Tree-drawing test (Baum test)	TDT	NA	personality and psychiatric aspects	Patient	[31]
General Health Questionnaire 60	GHQ-60	Adolescents and adults	Mental health	Patient	[31]
State-Trait Anxiety Inventory	STAI	Adolescents and adults	Anxiety	Patient	[31]
Functioning PROs
Health Assessment Questionnaire	HAQ	>18	Functional capacity and independence in activities of daily living, pain, overall well-being	Patient	[13, 64]
Childhood Health Assessment Questionnaire	CHAQ	≤18		Patient	[13, 65]
Mucopolysaccharidosis Health Assessment Questionnaire	MPS HAQ	Children and adults	Self-care, mobility skills, extent of caregiver assistance in performing activities	Patient	[32]
Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale	HS-FOCUS	Children (>12) and adults	Impact of MPS II on function	Patient	[27]
Modified version of the Functional Independence Measure^e	FIM	Children and adults	Physical and cognitive disability	Observer	[31, 34]
Pediatric Evaluation of Disability inventory	PEDI	0.5–7.5	Capability and performance in self-care, mobility and social function	Patient or parent^f	[66, 67]
Vineland Adaptive Behavior Scales	VABS	Children and adults	Adaptive behavior	Parent/caregiver	[36, 37, 39, 40]
Behavior Assessment System for Children	BASC	Children	Emotional adjustment and adaptive behavior	Patient and/or parent	[37]
Scales of Independent Behavior-Revised	SIB-R	Infancy-80+	Adaptive behavior	Patient	[68]
Health-related quality of life
EuroQol 5D	EQ-5D	Versions for children (≥8) and adults (≥16)	Physical and mental health	Patient	[28, 69]
Short form-36	SF-36	≥16	Physical and mental health	Patient	[15, 30, 70]
Health Utilities Index	HUI	≥5	Impact of disease and therapy	Patient or parent	[27]
Pediatric Quality of Life inventory	PedsQL	Children	physical, emotional, social, and school functioning	Patient or parent	[15, 43, 71]
TNO-AZL Preschool children Quality of Life	TAPQOL	0.5–5	Physical, social, cognitive, and emotional functioning	Parent	[72]
TNO-AZL Children Quality of Life	TACQOL	6–15	Health status and children’s subjective emotional appraisal of their health	Patient or parent	[73]
Childhood Health Questionnaire	CHQ	5–18	functional capacity and independence in activities of daily life	Patient and parent	[27, 37, 39]
Impact on family/caregivers
Pediatric Quality of Life inventory Family Impact Module	PedsQL Family Impact Module	Children	Parent’s problems in physical, emotional, social, and cognitive functioning, communication, worry, and problems specific to the family’s daily activities and family relationships	Parent	[74]
Zarit Burden Interview	ZBI	Adult patients	Burden of caring on relationship, emotional well-being, social and family life, finances, control over one’s life	Parent/caregiver	[8]

^aIn MPS studies
^bPain VAS scores that have been used in MPS patients are included in the HAQ, CHAQ, EQ-5D, APPT
^cPatients who are unable to speak because of intellectual impairments or disabilities
^dJapanese version of the Guilford test
^eAdapted for patients with MPS
^fNormally completed by parent or observer
NA not available

Back to article page

ISSN: 1750-1172

Contact us

Submission enquiries: Access here and click Contact Us
General enquiries: info@biomedcentral.com