Patient and caregiver experiences with pantothenate kinase-associated neurodegeneration (PKAN): results from a patient community survey.

Background: Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive genetic disorder of PANK2, which enables mitochondrial synthesis of coenzyme A. Its loss causes neurodegeneration with iron accumulation primarily in motor-related brain areas. Symptoms include dystonia, parkinsonism, and other disabilities.

Patient and family experience with transthyretin amyloid cardiomyopathy (ATTR-CM) and polyneuropathy (ATTR-PN) amyloidosis: results of two focus groups.

Background: Transthyretin amyloidosis, or ATTR, is a progressive and debilitating rare proteopathy generally manifested as either transthyretin amyloid polyneuropathy (ATTR-PN) or transthyretin amyloid cardiomyopathy (ATTR-CM). Irrespective of the clinical presentation, affected patients manage a chronic and life-threatening condition that severely impacts their quality of life. Although the primary symptoms and diagnostic criteria for ATTR are increasingly being discussed in the medical literature, due in large part by continual advances in uncovering disease pathophysiology, there exists a surprising paucity of published data on the patient journey and family experience.

Families' Experience of Pediatric Onset Multiple Sclerosis.

This study interviewed parents to understand families' experience with pediatric onset multiple sclerosis (POMS), which make up 2.7% to 10.5% of all MS cases.

Depression and fatigue in patients with multiple sclerosis.

Background: Previous research has examined the components of depression and fatigue in multiple sclerosis (MS), but the findings have been inconsistent. The aim of this study was to explore the associations between overall and subscale scores of the Center for Epidemiologic Studies-Depression Scale (CES-D) and the Modified Fatigue Impact Scale (MFIS) as well as the longitudinal changes in scores in a large cohort of MS patients.

Methods: MS subjects who completed a battery of patient reported outcome (PRO) measures including the CES-D and MFIS (N=435) were included in our analysis.

Risk attitudes and risk perceptions in individuals with multiple sclerosis.

Background: Little is known about risk attitudes and risk perceptions in multiple sclerosis (MS).

Objectives: The objectives of this paper are to investigate the range of risk attitudes and risk perceptions and examine associations between risk attitudes and risk perceptions and demographic and clinical features of the disease.

Methods: A total of 223 individuals completed a risk questionnaire.

A Framework of Care in Multiple Sclerosis, Part 2: Symptomatic Care and Beyond.

The Consortium of Multiple Sclerosis Centers (CMSC) convened a Framework Taskforce composed of a multidisciplinary group of clinicians and researchers to examine and evaluate the current models of care in multiple sclerosis (MS). The methodology of this project included analysis of a needs assessment survey and an extensive literature review. The outcome of this work is a two-part continuing education series of articles.

CME/CNE Article: A Framework of Care in Multiple Sclerosis, Part 1: Updated Disease Classification and Disease-Modifying Therapy Use in Specific Circumstances.

Unlabelled: Activity Available Online: To access the article, post-test, and evaluation online, go to http://www.cmscscholar.org.

Pediatric multiple sclerosis: Perspectives from adolescents and their families.

Supporting young people with pediatric multiple sclerosis can be challenging for families and health care providers. Adolescents may be more resilient than adults in reaction to the diagnosis but can have more difficulty planning for their futures. Appropriate, sensitive, and focused health provision should include consideration of the perspective of both the patient and parents.

Sex Education and Intellectual Disability: Practices and Insight from Pediatric Genetic Counselors.

Intellectual disability (ID) with or without other anomalies is a common referral for genetic counseling. Sessions may include discussions of reproductive implications and other issues related to sex education. Patients with ID regularly meet barriers when trying to obtain sex education due to the misperceptions of others as being either asexual or that such education would promote inappropriate sexual behavior.

Cognitive and patient-reported outcomes in adults with pediatric-onset multiple sclerosis.

Background: Little is known about long-term cognitive and patient-reported outcomes of pediatric-onset multiple sclerosis (POMS).

Objective: The objective of this paper is to compare cognitive and patient-reported outcomes in adults with POMS vs. adult-onset MS (AOMS).

Treatment satisfaction in multiple sclerosis.

Background: Disease-modifying therapies (DMTs) for the treatment of multiple sclerosis (MS) are associated with inconvenient methods of administration, significant side effects, and low adherence rates. This study was undertaken to compare treatment satisfaction in MS patients treated with interferon beta-1a intramuscular (IFNβ-1a IM), interferon beta-1a subcutaneous (IFNβ-1a SC), glatiramer acetate (GA), and natalizumab (NTZ), and to examine the associations between treatment satisfaction ratings and adherence to therapy.

Methods: Two hundred twenty-six treated MS patients completed the Treatment Satisfaction Questionnaire for Medicine.

"Her illness is a project we can work on together": developing a collaborative family-centered intervention model for newly diagnosed multiple sclerosis.

This article presents a model for intervening with families that are addressing a new diagnosis of multiple sclerosis (MS) in one member. The model is collaborative, integrative, and family-centered. It involves both working with the family collaboratively and providing strategies to promote greater collaboration within the family.

Functional relapses in pediatric multiple sclerosis.

Multiple sclerosis in children is characterized by more frequent relapses than in adult patients. Diagnosing and treating youth with multiple sclerosis present a number of challenges including differentiating organic relapses from functional symptoms. However, there is no literature describing coexistence of functionality in pediatric multiple sclerosis.

Work productivity in relapsing multiple sclerosis: associations with disability, depression, fatigue, anxiety, cognition, and health-related quality of life.

Objectives: To characterize work productivity in relapsing multiple sclerosis (MS) by using a work productivity scale and to identify associations between work productivity and disability, depression, fatigue, anxiety, cognition, and health-related quality of life.

Methods: Three hundred seventy-seven subjects with a clinically isolated syndrome or relapsing remitting MS participated in the study. Subjects underwent neurological examinations and completed patient-reported outcome and cognitive measures.

The impact of a recent relapse on patient-reported outcomes in subjects with multiple sclerosis.

Purpose: In this study, we estimate the impact of a recent relapse on physical and mental health in subjects with relapsing-remitting multiple sclerosis (RRMS) using validated patient-reported outcome (PRO) measures.

Methods: Subjects enrolled in the Comprehensive Longitudinal Investigation of MS at the Brigham and Women's Hospital with RRMS were eligible for enrollment. Subjects with a clinical visit within 45 days of a relapse were identified and divided into groups based on whether the relapse occurred before (recent relapse) (n = 59) or after the visit (pre-relapse) (n = 31).

Patient reported outcomes in benign multiple sclerosis.

Background: Benign MS patients have a mild course of disease and show no or minimal accumulation of disability over time. Little is known about the patient reported outcomes (PROs) in benign MS.

Objective: The objective of the study was to compare PROs in benign MS patients and patients with similar disease duration or disability status, and to investigate how the definition of benign MS affected this outcome.

The association between cognitive impairment and quality of life in patients with early multiple sclerosis.

Cognitive deficits are common in patients with multiple sclerosis (MS) and may be observed early in the course of the disease. Current knowledge about the association between cognitive impairment and health-related quality of life (HQOL) in patients with early MS is limited. We used a well-established battery of cognitive tests and standardized HQOL measures to examine the associations between overall and domain-specific cognitive performance and quality of life in patients with early MS.