Table 2.

Summary of studies reviewed

Citation	Study design; DMD sample characteristics [N; mean age, (age range)]; Recruitment method	HRQOL measure used	Major findings
[15]	Cross-sectional;	PedsQL 4.0 Generic Core	All HRQOL scores significantly
		and PedsQL 3.0	poorer than normative sample.
	[44; 12.9 years; (8–18)]	Neuromuscular modules
			Poorer physical HRQOL in both modules
	Neuromuscular clinics in	Child and parent report	among non-ambulatory boys.
	the United States
[16]	Cross-sectional;	Chinese version of PedsQL	The Chinese translation of the
		4.0 Generic Core and	Neuromuscular module was feasible,
	[56; 7.5 years; (2–13)]	Neuromuscular 3.0 module	reliable and valid
	Tertiary hospitals in urban China	Child and parent report	Moderate agreement between
			parent and child
[17]	Cross-sectional;	PedsQL 4.0 Generic Core	All HRQOL scores significantly
		and DMD module	lower than healthy children.
	[203; 10.4 years; (5–17)]
		Child and parent report	Self-reported psychosocial scores
	Neuromuscular clinics in the		significantly higher for older than
	United States (Michigan)		younger boys.
			Psychosocial score not related to
			use of mobility aids.
[18]	Cross-sectional;	Strips Of Life with	Poorer HRQOL than
		Emoticons (SOLE)	healthy controls.
	[43; 8.6 years; (range 5–13)]	questionnaire	HRQOL not related to degree
			of functional disability.
	Six tertiary centres in Italy	Child report
[20]	Cross-sectional	Personal Adjustment and	Adjustment score did not differ significantly
		Role Skills Scale (PARS-III)	from boys with other chronic conditions.
	[287; 10.9 years; (5–18)]		Adjustment score increased with age.
	Dutch and American Parent
	Project Muscular Dystrophy	Parent report
	organizations
[23]	Longitudinal	Life Satisfaction Index	HRQOL in most domains
		for Adolescents	improved over time.
	[95; unknown; (5–17)]
		Child report	No significant difference
	Single neuromuscular centre		between age groups.
	in Brazil
[24]	Longitudinal	PedsQL 4.0 Generic	Decline in PODCI score but not
		Core PODCI	PedsQL were significantly correlated
	[24; 7.9 years; (4–12)		with decline in 6 minute walk test.
		Parent-report
	Neuromuscular clinics in the
	United States (California)
25]	Cross-sectional	TACQoL children for	Only the ‘motor functioning’ domain
		under 16 year olds	was poorer than healthy peers
	[36; 12.6 years; (8–17)]	TACQoL adult for 16 and older
	Dutch Neuromuscular centres
		Child report
[26]	Cross-sectional	PedsQL 4.0 General Core	Children who required ventilation had
			significantly lower overall HRQOL than
	[24 (out of 109 NM patients;	Parent-report	children not on ventilation
	10.5 years; (2–18)]
	Single Neuromuscular centre
	in Canada
[27]	Cross-sectional	Vecu Sante Percu par	HRQOL scores not significantly
		L’adolescent (self-perceived	different than nondisabled group.
	[19 (out of 43 NM patients);	perceived health states in
	13.8 years; (10–17)]	adolescents)	HRQOL scores did not correlate
		Self-report	with physical impairment
	Single neuromuscular centre
	in France
[21] *	Cross-sectional	PedsQL 4.0 Generic Core	Self-reported scores significantly correlated
			with physical domain and Vignos scale
	[35; 12.5 years; (9–17)]	Child and parent reports
			Parent-child concordance range from poor
	Neurogenetics clinics and		to modest for different domains.
	community newsletters
	in Australia
[22] *	Cross-sectional	Child Health	Parents reported significantly lower
		Questionnaire 50-Parent	HRQOL score than normative sample and
	[34; 9.9 years; (5–18)]	Form	Charcot-Marie-Tooth disease sample.
	Three urban paediatric hospitals	Parent-report	Parents experienced greatest stress during
	in Australia		disease transition points.
[28]	Cross-sectional	PedsQL 4.0 Generic Core	All HRQOL scores poorer than healthy
			sample except for emotional domain.
	[50; 8.0 years; (5–17)]	Child and parent report
			Participation level is not
	Neuromuscular clinic in the		correlated to HRQOL
	United States (Florida)
			Older boys had significantly lower
			participation level, but not lower
			HRQOL scores than younger boys
[29]	Cross-sectional	PedsQL 4.0 Generic Core	HRQOL in both measures are
		Module	poorer than controls
	[52; 8.4 years; (4–17)]
		PODCI	The physical function domain of PedsQL
	Neuromuscular clinics in the		and of PODCI correlated with age and
	United States	Parent report	clinical measures of strength
[30]	Cross-sectional	Child Health	HRQOL scores significantly poorer
		Questionnaire 50- Parent	than healthy sample
	[27, 11.4 years; (unknown)]	Form
			Use of wheelchairs and ventilation were
	Neuromuscular clinics in Italy	Parent report	significantly associated with lower physical
			HRQOL.
[31]	Cross-sectional	DISABKIDS chronic	In children, all HRQOL scores poorer than
		generic module for	children with other chronic illnesses. In
	[50; 15.4 years; (8–23)]	children and adolescents;	adolescents, only social inclusion domain
		Short Form-36 for young	was poorer.
		adults
	Single paediatric neurology		No correlation between total HRQOL score
	clinic in Germany	Child report	and Vignos function score.
	[32]	Cross-sectional	KIDSCREEN-52	Apart from physical domain, HRQOL
			in not significantly different from that
	[40; 11.5 years; (8–20)];	Child report	of healthy boys.
	Dutch Duchenne Parent		Significant correlations between physical
	Database		domain and some functional scales
			Parent scores were significantly lower
			than child score in three domains.
[33]	Cross-sectional	Short Form-36	Physical and mental HRQOL not found to
			be correlated with physical impairment or
	[N = 35; 17 years; (8–33)]	Child report	FVC.
	Swiss facility for NM patients
[34]	Cross-sectional	PedsQL 4.0 Generic Core	Parents reported significantly lower
	DMD sample N = 63		physical and psychosocial HRQOL than
	parent-child pairs	Child and parentreport	boys themselves.
	Mean age 10.3 (range 5-16)
			The agreement between children and
	Florida, United States		parents in physical domain was better
			than psychosocial domains.

 ^*Participants of two studies by Bray andcolleagues were from the same cohort of families.