Table 2 Included studies characteristics and reported psychosocial outcomes

Studies on children with AMC

Amor et al. [5]

Retrospective cohort study, Level III

To establish normative PODCI scores for children with Amyoplasia, and to determine whether the PODCI is sensitive to differing levels of severity of Amyoplasia and able to detect a change in the functional abilities of affected children over time

N = 74; range 2.2–18.1 years

PODCI (parent report)

Initial “happiness” score:

N = 70; Mean ± SD = 81 ± 18, range 25–100

Comparison with normal population: p = 0.025*

Change in “happiness” scores from initial PODCI administration to most recent PODCI administration (range: 5 months to 7.5 years)

N = 39; Mean ± SD = 4 ± 21; p = 0.296

Change in “happiness” scores for patients who had UE surgery

N = 10; Mean ± SD = 9 ± 20; p = 0.116

Cao et al. [27]

Retrospective cohort study, Level III

To review the mid to long term results of combined posterior capsular elbow release and triceps lengthening for elbow extension contractures in children with arthrogryposis; and to compare PODCI score with normal pediatric population and previously reported patients with arthrogryposis scores

N = 17

range at time of surgery 9.6 months–9.3 years; range at final follow-up 4–20 years

PODCI (parent and patient report)

Domain of “happiness” was similar to the population norms

“Happiness” scores compared to the normal population

Parent report for children < 11yo:

N = 11, Mean ± SD = 81.8 ± 18.4; range 45–100; p = 0.4825

Parent report for children > 11yo

N = 6, mean ± SD = 83.3 ± 29.6; range 25–100; p = 0.4958

Self-report (> 11yo)

N = 6; mean ± SD = 77.5 ± 35.2; range 25–100; p = 0.2921

Church et al. [28]

Retrospective cohort study, Level III

To compare the effectiveness of the Ponseti method over a 5-year span in treating children with idiopathic clubfoot and clubfoot associated with arthrogryposis

Children with idiopathic clubfoot: N = 89, age 4.67 years ± 0.75

Children with AMC: N = 28; age 5.21 years ± 0.78

PODCI (parent report)

The children with idiopathic clubfoot and the children with AMC were statistically different in all 6 domains of the PODCI. The AMC group compared to the HC did not differ in the “happiness” domain

“Happiness” scores:

AMC group: mean 86 ± 21

Idiopathic group: mean 96 ± 11

AMC group compared to the idiopathic group: p = 0.029*

AMC group compared HC: p = 0.75

Elfassy et al. [13]

Qualitative study, Level IV

To identify the needs surrounding rehabilitation as experienced by youth with AMC, caregivers and clinicians (OT, PT) and to propose solutions to develop family and client centered rehabilitation recommendations

Youth with AMC: N = 7, range 14–20 years; Caregivers: N = 11; range of children 2–12 years

Qualitative interviews

Two youth reported having affective needs such as anxiety and body image issues as well as being easily tired and having pain. Parents reported dealing with many aspects of their child's needs, including affective, physical and cognitive needs, pain, burden of care, mobility and adaptations. One parent mentioned how their child’s many medical appointments affected the parent’s ability to work

Eriksson et al. [31]

Cross-sectional study, Level IV

To describe HRQoL in a group of children with AMC and specifically to investigate whether there were any differences between children wearing orthoses compared to those not wearing orthoses

N = 33; range 5–17 years

CHQ-PF50, EQ-5D-Y

No difference found in the psychosocial summary score between the AMC group and the HC on the CHQ-PF50

Lower scores found in AMC compared to the HC for: “parent impact/emotional”, “self-esteem” and “behavior”. No differences found between the AMC sub-groups for these domains

No difference between the AMC sub-groups on the EQ-5D-Y

Ho and Karol [6]

Retrospective cohort study, Level III

To determine the long-term ambulatory and functional outcome of patients treated for arthrogryposis with surgical knee releases

N = 32; range at time of knee release 0.8–6.8 years. Average length of follow-up 11.9 years, range, 2.2–23.6 years

PODCI (parent and patient report)

“Happiness” score (N = 22) within the average normalized scores (50 ± 10)

Increased knee extension at final follow-up correlated positively with higher scores of “happiness”: p = 0.06; r = 0.49

BMI correlated negatively with “happiness” scores: p = 0.01

r = − 0.48

Pritchard-Wiart et al. [32]

Mixed method case series, Level IV

To describe modified toy car use by children with physical disabilities in home and community settings

Child with AMC and hypotonia N = 1; 13 months. Children with CP N = 4; range 22–58 months

Qualitative interviews, driving log

Results specific to child with AMC:

Parents’ perception of child's motivation: average 9.5/10

Parents’ perception of child’s enjoyment: average 9.8/10

Parents reported the child was more curious, wanted to explore, and played more. Communication and motivation in general increased and he was able to keep up with his siblings and was more independent in his mobility

Spencer et al. [7]

Cross-sectional study, Level IV

To document the BMD of children with Amyoplasia and predominantly lower extremity arthrogryposis and compare it with age normative values. Secondarily, to compare bone mineral density with functional ability as quantified by the PODCI and the WeeFIM and with fracture risk in patients with arthrogryposis

N = 30; range 5–18 years

PODCI (unclear if patient or parent report)

The “happiness” normalized scores was within the norm 49

Wall et al. [29]

Retrospective cohort study, Level III

The hypothesis is that repositioning the hands, through distal humerus external rotation osteotomies, would allow for palm-to-palm grasp without arm cross-over, and would improve function and parent/patient satisfaction

N = 9; range 2–13 years; average follow-up 1.9 years; range 6 months–4 years

PODCI (parent report)

Post-operative mean «happiness» score: 89 (range 60–100)

Wall et al. [30]

Cross-sectional study (part of a larger longitudinal cohort study) Level IV

To investigate upper extremity functional and psychosocial measures in patients with arthrogryposis, comparing Amyoplasia and distal only involvement, utilizing the PROMIS and PODCI questionnaires

Amyoplasia N = 15; range, 6–10 years. Distal arthrogryposis N = 14; range 8–12 years

PODCI; PROMIS (UE function, pain interference, depression, anxiety, and peer relations)

Median “happiness” scores:

All subjects (N = 29): 85 (70–95)

Distal arthrogryposis (N = 14): 88 (80–99)

Amyoplasia (N = 15): 85 (70–95)

p = 0.40

Median PROMIS scores were in the normal range for both groups:

Distal arthrogryposis: pain (46); depression (53); anxiety (51); peer relations (46)

Amyoplasia: pain (50), depression (47), anxiety (49), and peer relations (56)

“Peer relations” score was statistically lower for the distal arthrogryposis group

Studies on adults with AMC

Altiok et al. [36]

Cross-sectional study, Level IV

To describe demographics and QOL, life satisfaction and functional mobility of young adults with AMC after transition from pediatric care

N = 23

range 18–36 years

SWLS, PROMIS-57 v2.0 profile, PROMIS Global health profile

56% were satisfied to extremely satisfied with life, and 22% were slightly dissatisfied to extremely dissatisfied. The five individuals dissatisfied with life also reported lower physical function, higher anxiety, depression and fatigue, and pain in multiple joints

There was a moderate correlations between satisfaction with life with the PROMIS measures of global physical health (r = 0.559, p = 0.006), global mental health (r = 0.59, p = 0.003), and pain level (r = − 0.57, p = 0.005)

2/23 married, 1/23 engaged, 20/23 single; 7/23 lived independently, 12/23 lives with family, 3/23 lived in college, 1/23 lived in a nursing facility;

Dai et al. [37]

Retrospective cohort study, Level III

To analyze disability in a cohort of adults with AMC, according to the International Classification of Functioning, Disability and Health (ICF) by phenotype and genotype

N = 43; 33.2 ± 13.4 years

HADS

Chronic pain in 91% of the sample, with psychological consequences in half. The main psychological problems reported were:

anxiety (43% with HADS > 10 for anxiety subscore; median 9 [6–19]), fatigue (34%), difficulty in sexual life (24%), altered self-esteem (17%), and feeling of solitude (15%). This affected work/study (17%) and planning of parenthood (7%)

The prevalence of depression was low as per the HADS depression subscore median 3 (1–6)

Results were similar for Amyoplasia group compared to other types of AMC

All but one participant lived at home, and only one lived in a residence for disabled persons; 23% were students

Jones et al. [33]

Mixed methods cross-sectional study, Level IV

To validate the ODI as a pain and disability outcome measure in the AMC population

N = 50; range 21–85 years

ODI, SF-36, EQ-5D, in-house questionnaire

SF-36 score for MCS: 50.63

EQ-5D results showed less severe and/or disabling scores for pain and anxiety/depression

When questions were phrased in an open-ended manner, no participant identified pain interference in the ODI domains of social activities, travelling or sex life. Subsequent closed-ended questions specific to the ODI domains showed significant pain-induced impairment in these domains

Nouraei et al. [34]

Cross-sectional study, Level IV

To examine the long-term functional outcomes of individuals with AMC with emphasis on the impact of their disability and treatment on their education, employment, and home life

N = 177; range 19–84 years

SF-36

SF-36: quality of life comparable to the general US population or better for several areas of health: “emotional” (77), “pain” (61), “social” (87) and “mental health” (74). The MCS (48) is comparable to the general US population (54)

45% were married, 27% were single and lived on their own, and 20% were single and lived with family or other support

Steen et al. [38]

Quantitative and qualitative study (Study 1: cross-sectional; Study 2: qualitative) Level IV

To describe body functions, activity and participation, and to explore psychosocial dimensions of adults with Amyoplasia

Study 1: N = 22; range 19–91 years

Study 2 (sub-group of study 1): N = 8; range 20–60 years

Focus group interview

Most of the focus-group participants reported unwanted attention. The ambulatory group was more concerned with being different than the wheelchair-users, and were more preoccupied with what made them different. The ambulatory group talked a lot about feeling inferior, having to prove themselves and being tired, while the wheelchair-users did not talk about tiredness at all. In social interactions, the wheelchair-users emphasized one’s ability to influence interactions. The ambulatory group focused less on their own contribution to the interaction. Ten participants lived with a partner, and 5 had children

Sawatsky et al. [35]

Mixed methods cross-sectional, Level IV

To describe the relationship between surgically-managed joints and the QOL in adults with AMC

N = 83; 43 ± 12.5 years

SF-36, in-house interview

SF-36 domain scores were similar to a Canadian normative data-set for the psychosocial domains. SF-36 scores:

Role limitations due emotional problems: 98

Emotional wellbeing: 86

Social functioning: 84

MCS score was average (49.5). There were no observable association between MCS and covariates

Elbow surgery was positively correlated with a higher social functioning outcome

Shoulder surgery was significantly inversely correlated with a higher social functioning outcome

Studies on mixed pediatric and adult AMC population

Sodergard et al. [39]

Retrospective cohort study with qualitative component, Level IV

To describe EMG findings, disability and psychosocial outcomes in individuals with AMC

N = 52; average 16.3 years

N = 27 older than 16yo

Semi-structured interview

Psychological evaluation showed that participants are able to obtain support from others, and have better mirroring and coping skills than most people. The mothers describe their children as kind, social and attractive but stubborn

14/27 lived independently, 5/27 lived in an adapted house, 8/27 had assistance. Many lived with their parents and only 2 married. Participants seemed to cope well socially and participated in social activities corresponding to their needs