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OBJECTIVES: To provide health and fitness professionals with screening, triage, prescription, and physical activity recommendations to better serve individuals living with advanced cancer. A call to action regarding next steps to improve research and knowledge translation is also outlined, ensuring the growing number of those with advanced cancers are supported in their efforts to adopt and adhere to active lifestyles. DATA SOURCES: Sources include published literature, physical activity guidelines, and expert opinion from physical medicine and rehabilitation physicians, exercise physiologists, and health and exercise psychology researchers. CONCLUSION: Individuals with advanced cancer who engage in regular physical activity report improved function, fatigue management, and quality of life, while objective testing shows improvements in fitness and physical function. Although there are no clear activity guidelines or recommendations for this population, patients must avoid inactivity to gain health benefits and minimize deconditioning. For most patients with advanced cancer, physical activity prescriptions should focus on maintaining fitness and functional independence, and specific modifications based on common comorbidities must be considered. IMPLICATIONS FOR NURSING PRACTICE: Evidence supports the use of physical activity for the management of symptoms experienced by those with advanced cancers. Understanding the benefits of physical activity for patients with advanced cancer is important because health care providers play a key role in the adoption and adherence of physical activity among patients.
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Neoplasias , Calidad de Vida , Ejercicio Físico , Humanos , Conducta SedentariaRESUMEN
BACKGROUND: Developmental coordination disorder is a common neurodevelopment disorder that frequently co-occurs with other neurodevelopmental disorders including attention-deficit hyperactivity disorder (ADHD). Copy-number variations (CNVs) have been implicated in a number of neurodevelopmental and psychiatric disorders; however, the proportion of heritability in developmental coordination disorder (DCD) attributed to CNVs has not been explored. OBJECTIVE: This study aims to investigate how CNVs may contribute to the genetic architecture of DCD. METHODS: CNV analysis was performed on 82 extensively phenotyped Canadian children with DCD, with or without co-occurring ADHD and/or reading disorder, and 2988 healthy European controls using identical genome-wide SNP microarrays and CNV calling algorithms. RESULTS: An increased rate of large and rare genic CNVs (p=0.009) was detected, and there was an enrichment of duplications spanning brain-expressed genes (p=0.039) and genes previously implicated in other neurodevelopmental disorders (p=0.043). Genes and loci of particular interest in this group included: GAP43, RBFOX1, PTPRN2, SHANK3, 16p11.2 and distal 22q11.2. Although no recurrent CNVs were identified, 26% of DCD cases, where sample availability permitted segregation analysis, were found to have a de novo rare CNV. Of the inherited CNVs, 64% were from a parent who also had a neurodevelopmental disorder. CONCLUSIONS: These findings suggest that there may be shared susceptibility genes for DCD and other neurodevelopmental disorders and highlight the need for thorough phenotyping when investigating the genetics of neurodevelopmental disorders. Furthermore, these data provide compelling evidence supporting a genetic basis for DCD, and further implicate rare CNVs in the aetiology of neurodevelopmental disorders.
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Trastorno por Déficit de Atención con Hiperactividad/genética , Variaciones en el Número de Copia de ADN , Predisposición Genética a la Enfermedad , Trastornos de la Destreza Motora/genética , Adolescente , Pueblo Asiatico/genética , Trastorno por Déficit de Atención con Hiperactividad/complicaciones , Trastorno por Déficit de Atención con Hiperactividad/metabolismo , Niño , Femenino , Proteína GAP-43/genética , Estudio de Asociación del Genoma Completo , Humanos , Masculino , Trastornos de la Destreza Motora/complicaciones , Trastornos de la Destreza Motora/metabolismo , Proteínas del Tejido Nervioso/genética , Factores de Empalme de ARN/genética , Proteínas Tirosina Fosfatasas Clase 8 Similares a Receptores/genética , Población Blanca/genéticaRESUMEN
Cerebellar dysplasia with cysts (CDC) is an imaging finding typically seen in combination with cobblestone cortex and congenital muscular dystrophy in individuals with dystroglycanopathies. More recently, CDC was reported in seven children without neuromuscular involvement (Poretti-Boltshauser syndrome). Using a combination of homozygosity mapping and whole-exome sequencing, we identified biallelic mutations in LAMA1 as the cause of CDC in seven affected individuals (from five families) independent from those included in the phenotypic description of Poretti-Boltshauser syndrome. Most of these individuals also have high myopia, and some have retinal dystrophy and patchy increased T2-weighted fluid-attenuated inversion recovery (T2/FLAIR) signal in cortical white matter. In one additional family, we identified two siblings who have truncating LAMA1 mutations in combination with retinal dystrophy and mild cerebellar dysplasia without cysts, indicating that cysts are not an obligate feature associated with loss of LAMA1 function. This work expands the phenotypic spectrum associated with the lamininopathy disorders and highlights the tissue-specific roles played by different laminin-encoding genes.