Psychological support for patients and families is a critical but often neglected component of care in Spinal Muscular Atrophy (SMA).1 Families will have psychological support needs that differ depending on where they are in their respective healthcare odysseys, from pre-conception genetic counseling2 to bereavement therapy.3 Patients with SMA themselves will have psychological needs separate from those of their caregivers.4 This article will discuss psychological support needs for patients/caregivers and for patients with SMA.
Family Psychological Support Needs
- Carrier and Prenatal Support: Genetic counselors are health professionals who help families to understand the implications of genetic diagnoses.5 Among genetic counselors’ goals is providing both psychological support and practical advice to families throughout the process of SMA counseling.6 The genetics of SMA are complex and require specialized knowledge for effective counseling.7 Professional medical organizations recommend identification of potential carriers8 and prenatal testing,9 therefore genetic counselors should be introduced into the healthcare team as early as possible to ensure the best communication to, and within, the supported family.10
- Support at Diagnosis: Achieving a diagnosis of SMA is life-altering and stressful event for families.11 Prompt diagnosis is important because delay in diagnosis increases parental stress.12 Parents wish that their healthcare providers had better knowledge about SMA in order to provide evidence-based, rather than anecdotal, anticipatory advice to families.1
- Caregiver and Family Support: Caring for a chronically ill child is a significant burden,13 and families caring for patients with SMA have high stress.14 Parents of children with SMA report increasing stress as the severity of the SMA increases.15 The parents and siblings of patients with chronic progressive neuromuscular diseases like SMA need longitudinal support that may best be served through palliative care team’s involvement shortly after diagnosis.16 Healthy siblings of patients with SMA may exhibit higher rates of behavioral problems.17 Involvement of a palliative care team to provide, among other offerings, psychological support for the whole family lowers healthcare utilization and elevates quality of life.18
- End-of-life/Bereavement Support: SMA types 019 and 120 are lethal. Families commonly report shock, anticipatory grief, and feeling helpless when faced with a lethal form of SMA.3 Some experts recommend grief psychologists be a part of any healthcare team charged with end-of-life care in the setting of SMA.21 Grief after a child’s death is deep and long-term.22 Siblings and their grief are often forgotten.22 Group therapy may be particularly helpful for loved ones grieving a child’s death.22
Patient Psychological Support Needs
- Support for Behavioral Issues: Children and adolescents with SMA will experience the same rates of behavioral and psychiatric problems as their healthy peers and can be treated using psychologists, psychiatrists, and other healthcare specialists as needed.16 Separation anxiety disorder is reported to be the most common behavioral issue in male children with SMA.14 Individuals with SMA who experience untreated behavioral problems will report higher stress than patients with SMA without such issues.22
- Support for Coping with SMA Progression: Patients with SMA have normal intelligence23 and therefore total awareness of their condition and its impact on their lives. Women may feel more adjustment concerns than men with loss of function dued to SMA.24 The psychological needs of patients change as their SMA progresses.25
- Support during treatment for SMA: The first approved therapy for SMA, Nusinersen, utilizes intrathecal delivery meaning patients must undergo periodic lumbar punctures.26 The lumbar puncture evokes significant anxiety in pediatric patients.27 A pilot program to use distraction techniques before, during, and after Nusinersen infusion reduced anxiety and stress in patients with SMA.28
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