Longitudinal Assessment of Pain, Coping, and Daily Functioning in Children with Sickle Cell Disease Receiving Pain Management Skills Training

Objective. To conduct intensive pain management skills training (IST) in children with sickle cell disease (SCD) and their parents and to comprehensively evaluate pain, coping, and daily functioning in children pre, immediately post, and 3 months following treatment. Methods. Three children who received IST in nonpharmacological and pharmacological pain management strategies completed a Coping Strategies Questionnaire (CSQ) at pre, post, and follow-up assessments, and daily pain and activity diaries for 18 weeks, spanning from 1 week pretreatment to 11 weeks posttreatment. Results. From pre- to posttreatment, 1 child receiving IST indicated increased report of active coping attempts and all 3 children indicated decreased report of negative thinking on the CSQ. Participants in IST used coping skills on 90% of days with pain and reported the skills to be moderately helpful on the daily diaries. For daily activities such as eating dinner, playing with friends, and hours slept, children participated similarly on days with pain and days without pain during the posttreatment period. Given the small number of participants in this study, individual cases are discussed to highlight similarities and differences in how participants responded to the treatment and during the 3-month follow-up period. Conclusions. In this pilot study, each participant showed improvement in coping and daily functioning after completing the IST program. Individual differences in response to treatment indicate the need for more targeted intervention programs that incorporate pharmacological and nonpharmacological components. The results of this study highlight both the promise and the complications of conducting comprehensive pain intervention and functional outcome studies in children with SCD.     

Metachromatic leukodystrophy and nonverbal learning disability: neuropsychological and neuroradiological findings in heterozygous carriers.

Metachromatic leukodystrophy (MLD) is an autosomal recessive neurodegenerative disorder due to deficiency of the enzyme arylsulfatase A that leads to progressive, diffuse demyelination. The syndrome of nonverbal learning disability has been attributed to white matter abnormality and has been reported in children with this disorder and in some healthy family member carriers of gene. We examined the neuropsychologic profiles and MRIs of eight members of the family of a 7-year-old girl with this disease, all of whom were heterozygous carriers of the mutation and five of whom were also carriers of the MLD pseudodeficiency gene. All had low normal levels of arylsulfatase A, and seven of the eight had average or better profiles across all assessed neuropsychological domains. The patient's younger sister had a profile with features of the syndrome of nonverbal learning disability despite a normal MRI, whereas two members with minor white matter findings did not. This family does not provide evidence for the syndrome of nonverbal learning disability in heterozygous carriers of the gene for MLD, even when associated with the MLD pseudodeficiency gene.     

Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network

The burden of living with an undiagnosed condition is high and includes physical and emotional suffering, frustrations, and uncertainty. For patients and families experiencing these stressors, higher levels of empowerment may be associated with better outcomes. Thus, it is important to understand the experiences of patients with undiagnosed conditions and their families affected by undiagnosed conditions in order to identify strategies for fostering empowerment. In this study, we used the Genetic Counseling Outcome Scale (GCOS-24) to assess levels of empowerment and support group participation in 35 adult participants and 67 parents of child participants in the Undiagnosed Diseases Network (UDN) prior to their UDN in-person evaluation. Our results revealed significantly lower empowerment scores on the GCOS-24 in adult participants compared to parents of child participants [t(100)?=???3.01, p?=?0.003, average difference?=???11.12, 95% CI (??3.78, ??18.46)] and no significant association between support group participation and empowerment scores. The majority of participants (84.3%, 86/102) are not currently participating in any support groups, and participation rates were not significantly different for adult participants and parents of child participants (11.4 vs. 19.7%, respectively, FE p?=?0.40). Open-ended responses provided additional insight into support group participation, the challenges of living with undiagnosed conditions, and positive coping strategies. Future research will evaluate the extent to which empowerment scores change as participation in the UDN unfolds.     

The Freedom of Extremists: Pluralist and Non-Pluralist Responses to Moral Conflict

Philosophia - This paper distinguishes two ways in which to think about the freedom of extremists. Non-pluralists claim to have identified the general rule for resolving moral conflicts, and...