Skip to main content

Table 2 Summary of n = 8 included articles of n = 7 included studies using qualitative psychosocial themes or aspects

From: Parents as informal caregivers of children and adolescents with spinal muscular atrophy: a systematic review of quantitative and qualitative data on the psychosocial situation, caregiver burden, and family needs

Study

Country

Study design

Recruitment

Sample caregivers

Sample children and adolescents

Study aim, original relevant categories for parents*1

Summary of identified psychosocial aspects for parents based on narrative synthesis*2

Farrar et al. [57]

Australia

Qualitative study, conceptual framework, semi-structured interviews in focus groups

October 2017–

January 2018, clinic

N = 7

Sex: NR

Age: NR

Family status: NR

Employment: NR

N = 7

Sex: NR

Age: NR

SMA type: I = 100%

Medication: children of parents in 1 of 2 focus groups received nusinersen

Aim: to investigate processes and factors that influence treatment and healthcare decisions in SMA

Categories: 1) hope,

2) yearning and searching,

3) patient-centered care and support, 4) community and a sense of connectedness and 5) weighing up potential treatment benefits and costs

Experiences with treatment decision making for SMA:

Hope was most important in decision making for disease-modifying therapies.

New treatment options raised hope for future healthcare and technological advances changes life with SMA.

Family experiences with and needs for care:

Caregivers were exhausted by trying to fill information gaps without discovering answers.

The need for timely, coordinated and evidence-based physical, psychological and practical care and support was expressed.

Input from a specialised multidisciplinary team facilitated the decision making.

Role of patient organizations:

Access to a community helped against isolation/for sharing information and experiences.

Most parents viewed the SMA community as active/connected group.

Some parents felt community pressure or judgment regarding treatment decisions/overwhelmed by the experiences of others.

Farrar et al. [56]

Australia

Qualitative study, interpretive phenomenological analysis, semi-structured interviews, via telephone

May 2016–June 2016,

clinic

N = 7

Sex: 100% female

Age: 57% between 30 and 39 (range = 30–49)

Family status: 100% married

Employment: 86% employed

N = 8

Sex: NR

Age: M = 6.4 (range = 1–14)

SMA type: II = 63%, III = 37%

Medication: NR

Aim: to investigate the effects of SMA on the costs incurred by families, to identify gaps in provision of care

Categories: 1) financial costs, 2) information, funding and support needs, 3) physical, mental and emotional health costs

Costs for families:

Increased demands and stresses on family finances due to direct care costs.

Balancing costs for care against needs and wants of the family.

Income loss due to limited employment and career opportunities.

Caregiver burden:

Caring was ‘never ending’, generating time expenditure and fatigue.

Prioritising the child’s needs ahead of own care and

lack of accessibility lead to exclusion from leisure experiences.

Narrowing of social networks, changes in family dynamics/relationships were reported.

Psychological and physical symptoms/effects:

Mental fatigue, stress and back pain due to lifting as well as emotional burden (e.g., concerns about the child's future health).

Family experiences with and needs for care:

Substantial time and effort navigating the system (e.g. access to information, funding etc.).

Lack of defined integrated support pathways was reported.

The government financial assistance only partially covered costs for families.

Funding and community assistance needed strong parent advocacy/perseverance.

Internet, social media, and support organizations were main information sources besides the child's doctor.

The wish to improve information and supportive care services was expressed.

Kiefer et al. [58]

Germany

Qualitative longitudinal study, inductive content analysis, semi-structured interviews, 2 time points

December 2016–

May 2017, clinic

N = 11

Sex: 73% female

Age: NR

Family status: NR

Employment: NR

N = 8

Sex: 50% female

Age: M = 15 months (SD = 7.7)

SMA type: I = 100%

Medication: nusinersen = 100%

Aim: to explore the experiences of caregivers whose child was diagnosed with SMA type 1 and who participated in the expanded access program (EAP) for nusinersen in Germany

Categories: 1) life with SMA prior to the EAP, 2) life with SMA prior to the EAP, 3) experiences after enrollment in the EAP, 4) life with SMA with treatment with nusinersen 5) supporting and aggravating factors influencing the adjustment process, 6) solidarity and justice

Parents’ experiences with SMA (EAP):

Caregivers were faced with a progressive and fatal disease.

Parents experienced high levels of uncertainty and concerns that the EAP would not be launched/could be too late for their child.

The time between the approval of the EAP and the actual start was agonising (hope for treatment and fear of not being accepted).

Parents' experiences with SMA (after enrollment of EAP):

When clinical situation of most patients stabilised, it had an reassuring effect on caregivers.

Participation in the EAP gave caregivers hope for a positive development and more independence of child.

Areas of persisting uncertainty and fear (e.g. availability/approval of nusinersen, stop if child did not show sufficient progress) were reported.

Caregivers received participation in the EAP as a radical change from a limited life expectancy to new perspectives.

Supporting and aggravating factors during process:

Good (medical) information (+) versus lack of information (e.g. EAP launch, criteria for participation) (−).

Good (informative) relationships with healthcare team ( +) versus lack of accountable contact persons (e.g. to get information) (−).

Recurring processes in hospital treatment ( +).

Concerns about treatment continuation (−).

Lawton et al. [64]

Australia

Mixed-method study, inductive content analysis, semi-structured interviews

2011, patient organisation

N = 7 (of 8 total sample including one sibling of an adult patient)

Sex: 100% female

Age: NR

Family status: NR

Employment: NR

N = 8 (of 9 total sample including one adult patient)

Sex: NR

Age: NR

SMA type: II = 75%, III = 25%

Medication: NR

Aim: to explore experiences of families regarding the journey of diagnosis, views on the potential for earlier diagnosis

Categories: 1) first noticing symptoms of SMA, 2) searching for answers and receiving a diagnosis,

3) potentially misleading information from health professionals, 4) reflections on timing of the diagnosis 5) parents’ and relatives’ views on screening to diagnose SMA earlier

Experiences of first symptoms (before diagnosis):

Parents reported to have a gut feeling that something was wrong.

They recognized symptoms with feelings of denial, stress, anxiety, worry.

In the phase of seeking answers, participants were pessimistic about the future/frustrated.

The prrocess to diagnosis was perceived as a protracted journey.

Health professionals initially reassured them about the normal development of their child.

Experience of SMA diagnosis:

The majority were given the diagnosis by neurologists/pediatricians.

Reactions to the diagnosis were mainly feelings of shock, numbness, potential rejection/denial, worry, and sadness.

The majority believed that the diagnosis could have been determined earlier.

Family experiences with and needs for care:

Some parents felt the given information was potentially misleading.

All participants wished to raise the awareness and provide formal education to health professionals about the symptoms of SMA.

Some expressed the need for written information.

McGraw et al. [59]a

USA

Qualitative study, inductive and deductive grounded theory, focus groups and semi-structured interviews

June 2014–

October 2014, patient organisation and clinic

N = 64

Sex: 77% female

Age: NR

Family status: NR

Employment: NR

N = 65

Sex: NR

Age: 94% between 0 and 17 years

SMA type: I = 19%, II = 45%, III = 34%

Medication: NR

Aim: to examine how patients with SMA, their caregivers, and clinicians defined meaningful change associated with treatment and to explore views about measures of motor function

Categories: 1) defining meaningful change in motor function,

2) views on the HFMSE and ULM,

3) broad range of essential activities should not be overlooked, 4) ability to perform daily activities 5) respiratory function 6) swallowing, 7) fatigue and endurance, 8) caregiver sleep loss, 9) a global measure to assess overall change

Caregiver burden:

Severe lack of sleep was a significant concern for parents of children with SMA types I and II.

Waking up every night to help their child roll over to prevent bedsores, or to adjust the covers to prevent the child from getting too hot or cold.

Parents were constantly aware of their children’s need of its body to be adjusted because they had to do it for them.

Qian et al. [66]a

USA

Qualitative study, inductive and deductive grounded theory, focus groups and semi-structured interviews

June 2014–

October 2014, patient organisation and clinic

N = 64

Sex: 77% female

Age: NR

Family status: NR

Employment: NR

N = 65

Sex: NR

Age: 94% between 0 and 17 years

SMA type: I = 19%, II = 45%, III = 34%

Medication: NR

Aim: to examine factors that affected how families arrived at a diagnosis, parents’ views on newborn screening, and the impact of SMA on the lives of patients and their parents

Categories: 1) arriving at a diagnosis of SMA, 2) views on newborn screening, 3) the psychosocial impact of SMA

Experiences of first symptoms (before diagnosis):

Ascertaining the diagnosis was a long process for many parents.

Only living close to medical centers helped to receive diagnosis quickly.

Paediatricians’ lack of knowledge made it difficult to ascertain diagnosis.

Parent reported the tendency to defer the judgment of the physician and to set aside fears.

Experience of SMA diagnosis:

Often, physicians communicated the diagnosis in an insensitive/unhelpful manner.

The style of communication of physicians was hard for families when receiving the news of diagnosis.

Caregiver burden:

Parents were confrontated with the premature death/uncertainty about future (feeling helpless and out of control).

They experienced fear of loss of functional abilities/disease progress/dependence of child.

They had to deal with ifficult treatment choices (e.g. invasive treatment) and with lost expectations for the child (grief and sadness)

.

Parents reported lack of sleep and never-ending burdens of caring for the child as well as

frustration due to lack of handicapped access.

Limited ability to socialise because of weakness and fatigue was reported.

Parents reported financial burden due to loss of income caused by care obligations.

Sometimes, moving for adequate schooling (and leaving jobs etc.) was necessary.

Family experiences with and needs for care:

Parents had to find information on their own/to advocate for additional testing and assessment.

Parents reported problems with obtaining adequate support for children in public schools.

Van Kruijsbergen et al. [62]

Netherlands

Qualitative study, thematic analysis, semi-structured interviews

January–November 2018, registry

N = 19

Sex: 68% female

Age: 63% between 30 and 39

Family status: NR

Employment: NR

N = 13 (of total 16 with three deceased children)

Sex: NR

Age: range = 0–8

SMA subtypes: I = 44%, II = 31%, III = 19%

Medication: 100%

Aim: to gain insight into parents’ perspectives about their decision making process concerning nusinersen treatment for their child

Categories: 1) parents’ perspectives on nusinersen, 2) perspectives on a spectrum: from a biomedical to a holistic approach,

3) parents’ perceived needs,

4) parents’ perceived concerns,

5) what facilitated or hampered parents in their decision making

process?

Expectations of nusinersen treatment:

Parents hoped to offer their child a chance of managing disease/good life/to stay alive.

Their focus was rather on the aim to battle the disease versus on the aim to reach good quality of life.

Prolonging life expectancy, stopping the deterioration, and increasing independence was expected.

The quality of life of the child was most important factor in making final decision.

Concerns about nusinersen treatment:

Parents were afraid of possible treatment complications/that side effects might occur.

They worried about the child’s ability to cope with the treatment physically (treatment too intensive).

They were afraid that the treatment would cause too much suffering and effort for the child.

They reported that the prolongation of life increases their child's awareness/creates emotional pain.

Family experiences with and needs for care:

The expertise and communication style of the physician played a major role in decision making.

The treating physician was mostly seen as main source of information.

Most parents additionally searched for information on the internet.

Searching for information was difficult (scattered over the internet).

Yang et al. [63]

Taiwan

Qualitative study, phenomenological method, in-depth interviews

March 2010 — March 2012, clinic

N = 19

Sex: 53% female

Age: M = 43.4 (SD = 4.8)

Family status: 95% married

Employment: 68% employed

N = 10

Sex: 70% male

Age: M = 10.9 (SD = 1.3)

SMA subtypes: I, II

Medication: NR

Aim: to probe into parents’ anticipatory loss of school-age children with Type I or II spinal muscular atrophy

Categories: 1) enduring the helplessness and pressure of care,

2) suffering due to the child’s rare and unknown condition,

3) loss of hope and a reinforcement of the parent–child attachment, 4) avoiding the pressure of death and enriching the child’s life

Confrontation with short life expectancy:

Parents perceived the dilemma that growing up with SMA means an early death for their child.

Parents were devastated that children would never experience youth and middle age/not have a future.

Families were under the pressure of impending death.

Children were afraid of death/to die without parents (fear of separation).

Psychological symptoms/effects:

The child's short life expectancy caused long-term grief and loss.

Parents agonised about their children’s fear of death.

Many parents became depressed and anxious, taking medication to relieve stress.

They often felt depressed and helpless because the child’s future was uncertain.

They struggled about the inability to control the child’s symptoms.

Family conflicts:

Children were not favored by their grandparents because of SMA, causing family conflicts.

Children encountered problems with self-identification and family support.

Conflicts between parents and children often erupted.

Family experiences with and needs for care:

Medical treatments were based on trial and error, not on tried protocols.

Doctors did not seem to follow up with the patients.

Families often had more experience in taking care of their child than their physicians.

The health care system did not recognise their childrens’ conditions.

Physicians and parents had different opinions about child’s physical status.

Parents had to handle the demise and death of their child alone.

  1. aStudies using the same sample but concentrated on different psychosocial outcomes
  2. *1Categories postulated by authors of the original study
  3. *2Summary of relevant aspects based on narrative synthesis by the authors of this study