ABSTRACT
INTRODUCTION: Disease inclusion in the newborn screening (NBS) panel should consider the opinions of those most affected by the outcome of screening. We assessed the level and factors that affect parent attitudes regarding NBS panel inclusion of Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and spinal muscular atrophy (SMA). METHODS: The attitudes toward NBS for DMD, BMD, and SMA were surveyed and compared for 2 categories of parents, those with children affected with DMD, BMD, or SMA and expectant parents unselected for known family medical history. RESULTS: The level of support for NBS for DMD, BMD, and SMA was 95.9% among parents of children with DMD, BMD, or SMA and 92.6% among expectant parents. CONCLUSIONS: There was strong support for NBS for DMD, BMD, and SMA in both groups of parents. Given advances in diagnostics and promising therapeutic approaches, discussion of inclusion in NBS should continue.
Subject(s)
Attitude to Health , Muscular Dystrophy, Duchenne/diagnosis , Neonatal Screening/psychology , Parents/psychology , Spinal Muscular Atrophies of Childhood/diagnosis , Adult , Anxiety/psychology , Cohort Studies , Early Diagnosis , Emotions , Female , Health Surveys , Humans , Infant, Newborn , Male , Surveys and QuestionnairesABSTRACT
This article reviews the recent literature regarding bone health as it relates to the patient living with neuromuscular disease (NMD). Studies defining the scope of bone-related disease in NMD are scant. The available evidence is discussed, focusing on abnormal calcium metabolism, increased fracture risk, and the prevalence of both scoliosis and hypovitaminosis D in Duchenne muscular dystrophy, amyotrophic lateral sclerosis, and spinal muscular atrophy. Future directions are discussed, including the urgent need for studies both to determine the nature and extent of poor bone health, and to evaluate the therapeutic effect of available osteoporosis treatments in patients with NMD.
Subject(s)
Bone Density , Bone and Bones/physiopathology , Fractures, Bone/etiology , Neuromuscular Diseases/complications , Neuromuscular Diseases/physiopathology , Vitamin D , Bone Density/genetics , Bone Density/physiology , Bone Development , Bone and Bones/innervation , Bone and Bones/metabolism , Calcium , Fractures, Bone/prevention & control , Humans , Motor Activity , Risk Assessment , Scoliosis/etiology , Vitamin D/blood , Vitamin D/therapeutic useABSTRACT
Poor bone health is a significant problem for patients with Duchenne muscular dystrophy (DMD), a progressive, disabling disease. Although the primary focus of DMD disease pathogenesis is degeneration of striated muscle, impairment of bone health likely has a role in the disease that has only been superficially examined to date. Deficiency of bone mineral density and increased incidence of bone fractures are well-recognized clinical components of the DMD phenotype. Furthermore, therapy with corticosteroids, an approved treatment for DMD that prolongs ambulation, may have multiple effects on bone health in DMD patients. This review examines the evidence in preclinical models and in human DMD disease that provides insight into the role performed by bone in the disease pathogenesis and phenotype of DMD. The information reviewed here points toward the need for mechanistic and therapeutic studies to optimize bone health in DMD patients.
