Intrathecal administration of Nusinersen in type 1 SMA: successful psychological program in a single Italian center

Abstract

Nusinersen is the first approved drug to treat spinal muscular atrophy (SMA). Its periodic intrathecal delivery may cause psychological burden in infants and in their parents. We report our experience during expanded access program (EAP) for type 1 SMA in a single Italian center. Because of the occurrence of stress emotional states, anxious reactions and fear before, during, and after lumbar puncture (LP), a specific psychological intervention was implemented based on regulation of emotions, anticipatory expectations, and post-event attributions. Activities included the use of fairy tales, distraction, music play through listening preferred cartoon themes in the youngest children, and contextual games and solution of fun riddle quizzes in the oldest ones. State anxiety greatly reduced in children and their parents. Treatment of psychological aspects should therefore become an integral part of health care in SMA infants and children during Nusinersen treatment.

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

“…CarerQoL baseline median score = 4 (SD = 1.4) versus 6-month median score = 8 (SD = 1.3, p < 0.001). La Foresta et al [ 34 ] Italy Longitudinal study, 3 time points (before 1st and 4th lumbar puncture (LP)), self-report paper–pencil questionnaire December 2016 (start), clinic N = 14 Sex: 93% female Age: NR Family status: NR Employment: NR Comparison group: different time points (pre-post) N = 16 Sex: 69% male Age: 50% between 1 and 10 (range = 0.16–14) SMA subtypes: I = 100% Medication: nusinersen = 100% Comparison group: different time points (pre-post) State anxiety (State-Trait Anxiety Inventory for adults, STAI) State anxiety : 2 h before the 1st lumbar puncture (LP), mild anxiety levels were found in caregivers. Preoperative anxiety had increased significantly ( p < 0.001) at the 4th LP, but significantly decreased after implementation of a self-developed psychological intervention at the 5th LP ( p < 0.03).…”

“…Most studies focused on affected families or patients and parents equally [ 29 , 31 , 37 – 40 ]. Five studies focused primarily on caregiver outcomes [ 15 , 32 , 33 , 36 , 41 ] and four studies assessed patients’ perspectives but, additionally, reported outcomes for parents [ 16 , 17 , 30 , 34 ]. The majority of studies were cross-sectional, only three studies used a longitudinal design with two to three time points [ 34 , 38 , 41 ].…”

“…Mostly, children and adolescents included in the studies were diagnosed with SMA type II (38–75% of children and adolescents), two studies only included children and adolescents with SMA type I [ 30 , 34 ]. Children and adolescents in studies including SMA subtypes I-III generally had a higher mean age than children and adolescents in studies including only type I patients (M = 6.1–12.7 vs. M = 3.0 years), whereas the sex ratio of children and adolescents was approximately balanced in most studies.…”

“…Other studies compared affected families in different countries [ 15 , 17 ], to healthy controls [ 30 , 36 , 37 ], or to families affected by other diseases [ 33 , 37 ]. Further, three studies compared pre- and post-measurements before and after the start of medical treatment [ 34 , 38 , 41 ] and/or psychological intervention [ 34 , 38 , 41 ], one study compared parents of affected children and adolescents versus adult patients [ 32 ], and another study did not compare participants at all [ 29 ].…”

“…Two studies assessed anxiety [ 32 , 34 ], one of them additionally measuring depressive symptoms, using the State Anxiety Inventory (STAI) [ 52 ] and the Hospital Anxiety and Depression Scale (HADS) [ 53 ]. One study reported high anxiety and depressive symptoms in 53% of mothers of children and adolescents with SMA, indicating slightly higher symptoms compared to mothers of adult patients with SMA [ 32 ].…”