Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?

Clinical phenotype; Pediatric patients; Spinal muscular atrophyFenotipo clínico; Pacientes pediátricos; Atrofia muscular espinalFenotip clínic; Pacients pediàtrics; Atròfia muscular espinalObjective The aim of this study was to provide an overview of the clinical phenotypes associated with 4 SMN2 copies. Methods Clinical phenotypes were analyzed in all the patients with 4 SMN2 copies as part of a nationwide effort including all the Italian pediatric and adult reference centers for spinal muscular atrophy (SMA). Results The cohort includes 169 patients (102 men and 67 women) with confirmed 4 SMN2 copies (mean age at last follow-up = 36.9 ± 19 years). Six of the 169 patients were presymptomatic, 8 were classified as type II, 145 as type III (38 type IIIA and 107 type IIIB), and 8 as type IV. The remaining 2 patients were asymptomatic adults identified because of a familial case. The cross-sectional functional data showed a reduction of scores with increasing age. Over 35% of the type III and 25% of the type IV lost ambulation (mean age = 26.8 years ± 16.3 SD). The risk of loss of ambulation was significantly associated with SMA type (p < 0.0001), with patients with IIIB and IV less likely to lose ambulation compared to type IIIA. There was an overall gender effect with a smaller number of women and a lower risk for women to lose ambulation. This was significant in the adult (p = 0.009) but not in the pediatric cohort (p = 0.43). Interpretation Our results expand the existing literature on natural history of 4 SMN2 copies confirming the variability of phenotypes in untreated patients, ranging from type II to type IV and an overall reduction of functional scores with increasing age.S.C.P., G.P.C., and E.M. are members of the European Reference Network for Rare Neuromuscular Diseases (ERN EURO-NMD). G.Coratti is funded by grant from the Italian Ministry of Health (GR-2021-12374579). E.M. is funded by grant from the Italian Ministry of Health (RF-2019-12370334). M.C.P. is funded by grant from the Italian Ministry of Health (GR-2018-12365706). E.P. is funded by grant from the Italian Telethon (GUP21008). The ITASMAC registry is partly funded by Biogen and Roche

The Association Between Low Health Literacy and Attitudes, Behaviors and Knowledge that Influence Engagement in Cancer Screening and Prevention Activities

Background: Health literacy is a complex, multifaceted phenomenon. While health literacy has historically been measured using instruments that assess reading and numeracy, comprehension of spoken information is also important. The purpose of this study was to identify adults with low health literacy using a multi-dimensional assessment of health literacy and to explore whether low health literacy was associated with variables likely to affect engagement in cancer prevention and screening activities. Methods: A random sample of English speaking adults aged 40-70 were invited to participate from: Kaiser Permanente Georgia, Hawaii, Colorado, and Fallon Community Health Plan Massachusetts. The Cancer Message Literacy Test-Listening, the Cancer Message Literacy Test-Reading, and the Lipkus Numeracy Scale were all used to assess aspects of health literacy. We also assessed self-efficacy, provider trust, and fatalism. Participants self-reported demographic data, health seeking behavior, and media use. Results: Out of 1074 adults, 48% were white, 73% were educated beyond high school, and 53% rated their health as very good or excellent. Compared to others, adults with low health literacy were more likely to avoid physician visits (p \u3c .001), more fatalistic about cancer (p Conclusions: In this population of insured adults, we identified differences among adults with low health literacy which may impact their engagement in cancer prevention and screening activities. These findings have important implications for health care interactions and public health communication. Understanding the reasons for these beliefs and behaviors may suggest ways to target and tailor communication for this vulnerable population

The association between health literacy and cancer-related attitudes, behaviors, and knowledge

Using a multidimensional assessment of health literacy (the Cancer Message Literacy Test-Listening, the Cancer Message Literacy Test-Reading, and the Lipkus Numeracy Scale), the authors assessed a stratified random sample of 1013 insured adults (40-70 years of age). The authors explored whether low health literacy across all 3 domains (n =111) was associated with sets of variables likely to affect engagement in cancer prevention and screening activities: (a) attitudes and behaviors relating to health care encounters and providers, (b) attitudes toward cancer and health, (c) knowledge of cancer screening tests, and (d) attitudes toward health related media and actual media use. Adults with low health literacy were more likely to report avoiding doctor\u27s visits, to have more fatalistic attitudes toward cancer, to be less accurate in identifying the purpose of cancer screening tests, and more likely to avoid information about diseases they did not have. Compared with other participants, those with lower health literacy were more likely to say that they would seek information about cancer prevention or screening from a health care professional and less likely to turn to the Internet first for such information. Those with lower health literacy reported reading on fewer days and using the computer on fewer days than did other participants. The authors assessed the association of low health literacy with colorectal cancer screening in an age-appropriate subgroup for which colorectal cancer screening is recommended. In these insured subjects receiving care in integrated health care delivery systems, those with low health literacy were less likely to be up to date on screening for colorectal cancer, but the difference was not statistically significant

Health Literacy and Cancer Prevention: It’s Not What You Say It’s What They Hear

Background: A growing body of literature documents the relationship between health literacy and important health behaviors and outcomes. Most research to date has focused on print literacy–few studies have examined literacy with respect to spoken information (“spoken health literacy”). We sought to examine the extent to which responses to physician advice about cancer prevention and screening were associated with spoken health literacy. Methods: Participants listened to 3 simulated physician-patient discussions addressing: 1) Prostate Specific Antigen (PSA) testing; 2) tamoxifen for breast cancer prevention; and 3) colorectal cancer (CRC) screening. The physician provided information on risks and benefits but did not endorse one course of action. Post-vignette questions assessed understanding and reactions to the physician’s advice. Participants had previously completed the Cancer Message Literacy Test-Listening (CMLT-L), a measure of spoken health literacy. Bivariate analyses examined the relationship between CMLT-L scores and comprehension, attitudes, and behavioral intentions. Results: Four hundred thirty-eight adults from 3 HMORN sites participated. Comprehension: Post-vignette comprehension scores were correlated with CMLT-L scores (r=0.62, p Discussion: The ability to understand spoken information is a critical component of health literacy. In this study, spoken health literacy influenced patients’ comprehension of, and reaction to spoken health information provided by a physician. The findings that participants scoring in the lowest quartile on the CMLT-L were more likely to respond favorably to physician advice on cancer prevention but were less likely to comprehend content of the vignettes, may indicate that physician mention of a prevention service is interpreted as endorsement of a prevention service in the absence of a full understanding of its risks and benefits

Sleep Disorders in Autism Spectrum Disorder Pre-School Children: An Evaluation Using the Sleep Disturbance Scale for Children

Background and Objectives: Sleep disorders are common in children with Autism Spectrum Disorder (ASD). The aims of this study were to describe the incidence and characteristics of sleep disorders using a questionnaire completed by the caregiver in a sample of preschool-aged children with ASD and to identify possible differences in a control group of peers. Materials and Methods: Sleep disorders were investigated with the Sleep Disturbance Scale for Children (SDSC) in a population of pre-school-aged (3–5 years) ASD children and in a control group. The Autism Diagnostic Observation Schedule—second ed. (ADOS-2) was further used to assess autism symptom severity. A total of 84 children (69 males; mean age 3.9 ± 0.8 years) with a diagnosis of ASD and 84 healthy controls (65 males; mean age of 3.7 ± 0.8 years) that were matched for age and sex were enrolled. Results: ASD children reported significantly higher (pathological) scores than the control group on the SDSC total scores and in some of the factor scores, such as Difficulty in Initiating and Maintaining Sleep (DIMS), disorders of excessive somnolence (DOES), and sleep hyperhidrosis. A total of 18% of ASD children had a pathological SDSC total T-score, and 46% had an abnormal score on at least one sleep factor; DIMS, parasomnias, and DOES showed the highest rates among the sleep factors. Younger children (3 years) reported higher scores in DIMS and sleep hyperhidrosis than older ones (4 and 5 years). No specific correlation was found between ADOS-2 and SDSC scores. Conclusions: Pre-school children with ASD showed a high incidence of sleep disorders with different distributions of specific sleep factors according to their age. We suggest a screening assessment of sleep disorders using the SDSC in these children with a more in-depth evaluation for those reporting pathological scores on the questionnaire