Quality of life, physical functioning, and psychosocial function among patients with achondroplasia: a targeted literature review

Figures & data

Figure 1. PRISMA flow diagram: search and selection process.

Table 1. Study design, sample characteristics and instruments used in included studies (n = 23).

Authors, year	Country	Instrument	Study design	Timing/follow-up^a	Sample source/setting	Sample size (n)	Study population	Age range (years)
QoL, physical or and psychosocial functioning in patients with ACH
Cervan et al., 2008 [49]	Brazil	WHOQOL-BREF	Cross-sectional/case-control	NR	Patient association (AGPB)	n = 44	Adults and adolescents with ACH (n = 22)/unaffected controls matched for age and sex (n = 22)	15–54
Gollust et al., 2003 [42]	US	Ferrans & Powers QLI	Cross-sectional	NR	Patients association (LPA)	n = 325	Adults with ACH (n = 189)/first-degree relatives (FDR; n = 136)	ACH: 19–89 FDR: 20–84
Ireland et al., 2011[33]	Australia	WeeFIM-II ^b	Cross-sectional	Oct 2008 – Oct 2010	Ongoing cohort study; clinics/hospitals; patient association	n = 35	Children with ACH	3–7
Kiemann et al., 2017; Topfer et al. 2018 [38,39] ^c	Australia	WeeFIM-II ^b	Cross-sectional	April – July 2016	State-wide achondroplasia service (population based)	n = 14	Children with ACH	4–12
Mahomed et al., 1998 [44]	US	SF-36	Cross-sectional	NR	Patient association (LPA)	n = 437	Adults with ACH	18–90
Matsushita et al., 2019 [48]	Japan	SF-36; questions on ADLs	Cross-sectional	Jul 2016 – Mar 2018	Patient association/medical records at authors’ institutions	n = 184	Adolescent (10–19 years; n = 73) adults (≥20 years; n = 108) with ACH	10–67
Nishimura & Hanaki, 2014 [36]	Japan	SCALE 1–8	Cross-sectional, descriptive	NR	Advocacy support group	n = 73	Children with ACH	8–18
Rodriguez-Gomez et al., 2016 [43]	Puerto Rico	BDI; BAI; BHS; SCL-90-R).	Cross-sectional, descriptive	NR	Patient association (CLPR)	n = 22	Adults with ACH	21–75
Rohenkhol et al., 2015 [46,47] ^c	Germany	QoLISSY; SDQ	Cross-sectional	NR	Patient association (BKMF e.V.)	n = 89	Children, adolescents and young adults with ACH	8–29
Thompson et al.,1999 [34]	US	CBCL; VABS ^b	Cross-sectional	NR	Clinical setting	n = 54	Children with ACH (n = 16), children born prematurely (n = 21), normally developing children (n = 17)	6–14
Wigg et al., 2016 [35]	Australia	CBCL ^b	Cross-sectional	NR	Hospital setting	n = 14	Children with ACH	6–16
Witt et al., 2019 [37]	Germany	PedsQL	Cross-sectional	Oct 2015 – Mar 2016	Patient association (BKMF e.V.)	n = 73	47 children with ACH (8–14 years) and 73 parents of ACH children aged 5–14 years	5–14
Yonko et al., 2021 [45]	US	SF-36	Retrospective chart review	NR	Hospital setting	n = 25	Adults with ACH	19–66
QoL, physical or and psychosocial functioning in patients with short-stature or skeletal dysplasia (SD), including ACH
Alade et al., 2013[57]	US	Bleck scale Questions on ADLs	Cross-sectional	Mar 2010 – Aug 2011	Patient association (LPA)	n = 361	Patients with SD, including children (10–17 years; n = 38) and adults (18≥ years n = 159) with ACH (total n = 197; 54.6%)	NR
Dhiman et al., 2017 [55]	US	SF-12	Cross-sectional	NR	Patient association (LPA)	n = 189	Adults with SD, including ACH (106; 56.4%)	19–80
Jennings et al., 2019 [54]	US	PHQ-8; GAD-7	Cross-sectional	Jun – Nov 2016	Patient association (LPA); SD clinics	n = 336	Adults with SD, including ACH (n = 192; 57.1%)	18–81
Johansen et al., 2007 [56]	Norway	SF-36	Cross-sectional	2004	National resource center	n = 44	Adults and adolescents with short stature, including ACH (n = 19; 43%)	16–61
Lorne et al., 2020 [53]	Switzerland	QoLISSY	Cross-sectional	Aug 2018 – Aug 2019	Patient association; patient charts of the genetic medicine service	n = 8	Children with SD, including ACH (n = 4; 50%) ^d	8–18
Qol, physical or and psychosocial functioning in patients with ACH following limb lengthening surgery
Balci et al., 2015 [40]	Turkey	DASH	Retrospective chart review	40 months (12–104)	Clinical setting	n = 18	Patients with ACH who underwent bilateral humeral lengthening	6–15 at time of surgery
Batibay et al., 2020 [41]	India	PedsQL	Case-control (retrospective)	100 months (37–197)	Clinical setting	n = 69	Patients with ACH who underwent bilateral femoral/tibial lengthening (n = 49), with subgroup of patients who also had bitateral humeral lengthening (n = 21), and a group of patients with no lengthening surgery history (n = 20) ^e	3–13 at time of initial surgery
Kim et al., 2012 [50]	Korea	SF-36; AAOS Lower extremity; Rosenberg scale	Case-control (retrospective)	4.9 years (4.5–6.9)	Clinical setting	n = 44	Patients with ACH who underwent bilateral femoral/tibial lengthening (n = 22) and age-sex-height-matched ACH patients without surgery (n = 22)	8–25 at time of surgery
Kim et al., 2012 [51]	Korea	SF-36; Rosenberg scale	Retrospective chart review	4.5 years (0.8–6.8)	Clinical setting	n = 12	Patients with ACH who initially underwent bilateral femoral limb followed by humeral lengthening	6–20 at time of initial surgery
Leiva-Gea et al., 2020 [52]	Spain	Questions on mobility and self-care	Pre-test/post-test study (prospective)	NR	Hospital setting	n = 21	Patients with ACH who underwent staged bilateral femoral/tibial [Stage 1] and/or humeral lengthening [Stage2]^f	9–25 at time of surgery

ACH: Achondroplasia; SD: Skeletal dysplasia(s); ADLs: Activities of Daily Living; SF-36: 36-Item Short Form Survey; SF-12: 12-item Short Form Survey; PedsQL: Pediatric Quality of Life Inventory; BDI-II: Beck Depression Inventory; BAI: Beck Anxiety Inventory; BHS: Beck Hopelessness Scale; SCL-90-R: The Symptom Checklist-90-R; CBCL: Child-Behavior Checklist (6–18 parent report form); VABS: Vineland Adaptive Behavior Scales; SCALE 1–8: an inventory of 8 scales based on the psychological stress model of which conceptual framework was comprised of stressor, coping process, coping resource and adaptation outcome domains; QoLISSY: Quality of Life in Short Stature Youth (short stature specific); SDQ: Strengths and Difficulties Questionnaire; WeeFM-II: Pediatric Functional Independence Measure; WHOQOL-BREF: World Health Organization Quality of Life questionnaire; QLI: Quality of life index; PHQ-8: Patient Health Questionnaire-8;GAD-7: Generalized Anxiety Disorder-7; SF-12: 12-Item Short Form Survey; DASH: Disabilities of the Arm, Shoulder and Hands; AAOS Lower Extremity: American Academy of Orthopaedic Surgeons lower limb outcomes questionnaire; LPA: Little People of America; AGPB: Achondroplastics of the Gente Pequena do Brasil Association; CLPR: Capítulo Little People of Puerto Rico; BKMF e.V: German Association for People of Short Stature and their Families; NR: Not Reported;.

Notes:

a. Timing: Period of data collection (Month/Year); Follow-up: duration between the time of surgery and final review [mean (range)].

b. Respondents for the WeeFIM-II, CBCL and VABS tools were parents of children with ACH, only.

c. Rohenkhol et al., 2015: one study, two full-text articles; Kiemann et al., 2017 and Topfer et al., 2018: One study, two abstracts.

d. Lorne et al. received 7 parent-reports (3 were from parents of children with ACH) and 7 child-reports (3 children had ACH) from a total of 8 families.

e. Patients who underwent limb lengthening surgery had an average age of 14.70 (SD = 2.44; 11–18 years). The average age of non-operated patients at the time of the study was 15.7 (13–18 years). There was statistically significant difference in age between the two group at time of study (p = 0.071).

f. Achondroplasia patients with a growth curve below the mean of the standard growth curves for achondroplasia were included in Stage 1 (n = 17). The remaining patients were included directly in Stage 2 (n = 4).

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