Study Highlights Differences in Adaptive Skill Impairments Across NMDs

Neuromuscular diseases (NMDs), which are characterized by progressive muscle weakness and wasting, not only carry mental health challenges but also challenges with adaptive skills. And while the adaptive skills of most children with NMDs are impaired, the extent to which these skills are impaired vary by patient group, which should be taken into account when implementing interventions, according to findings coming from a recent study.

Across the 50 children and adolescents with NMDs included in the study, 16 had Duchenne muscular dystrophy (DMD), 4 had Becker muscular dystrophy (BMD), 14 had spinal muscular atrophy (SMA), 8 had myotonic dystrophy (DM), and 8 had other diagnoses, such as Emery-Dreifuss muscular dystrophy. These patients were also compared against a demographically matched control group of 298 children and adolescents.

“Our results emphasize the need for the assessment of adaptive skills in these groups of patients and show meaningful differences among them in terms of the supports that they require for their successful functioning in daily life,” explained the researchers. “They also indicate that various disease characteristics may be important in determining the profile of adaptive skills in patients with different NMDs.”

Patients with DM exhibited the most pronounced impairments, with the majority of these patients scoring well under 1 standard deviation in the ABAS-3 adaptive domains. The ABAS-3 questionnaire includes 3 domains (conceptual, social, and practical) to assess 11 skill areas.

The most significant deficits were observed in Social Skills and Functional Academics. These patients exhibited overall adaptive skills in the range of mild to moderate intellectual disability according to the General Adaptive Composite (GAC) Score, which summarizes the performance of all 11 skill areas. According to the researchers, the majority of these patients attended a school for children with intellectual disability, which is likely due to the involvement of the central nervous system with the disease and the high rate of comorbid intellectual disability.

Patients with DMD and BMD also showed significant impairments in ABAS-3 adaptive skill domains, and, according to the researchers, those with DMD had overall GAC scores that were comparable to patients with DM. The biggest deficits observed among patients with DMD were in the Self-Care and Home Living domains. BMD had practically significant impact on the Practical skill domain, with having scores close to those of patients with DM and DMD. Patients with BMD also had a likely but less practically significant deficit in the Social skill domain.

“In line with previous research which documented the approximate prevalence of intellectual disability in DMD to be 35%, we found that our own patients with DMD displayed poor conceptual skills, with two out of the eleven patients attending an educational program for children with intellectual disabilities,” highlighted the researchers. “Our results also confirmed previously reported deficits among children with DMD in basic academic skills such as reading, writing, mathematics and other school-related skills.”

Meanwhile, a significant impact of SMA appeared to be limited to the Practical skill domain, with these patients having levels of conceptual and social skills that were comparable to healthy children and adolescents. According to the researchers, this is in line with previous research.

Reference
Gosar D, Košmrlj L, Musek PL, et al.Adaptive skills and mental health in children and adolescents with neuromuscular diseases. Eur J Paediatr Neurol. Published online October 20, 2020. doi:10.1016/j.ejpn.2020.10.008