Suicide in the press: an analysis of newspaper coverage of adolescent versus adult suicides in Italy.

BACKGROUND: An association between sensationalized media reporting and subsequent increase in suicidal behavior has been documented, and adolescents are especially vulnerable to imitative influences. The aims of this study were to examine the characteristics of the articles reporting adult and adolescent (under age 18) suicides in the Italian press and to assess adherence to the World Health Organization (WHO) guidelines for responsible reporting. Methods: The print versions of the three newspapers with the widest national distribution in Italy were searched for all the articles on incident suicides printed over a 7-month period (July 2022 to February 2023). Articles were examined for adherence to the WHO guidelines. Results: Overall, 213 articles were identified, reporting on 122 individual suicide cases (88.5% adults and 11.5% adolescents). Of the articles, 78.9% were on adults and 21.1% on adolescents, with a ratio articles/suicide cases of 1.6 for adults and 3.2 for adolescents (p < 0.0001). Adolescent suicide articles had more words (mean 612.5 ± SD 275.6) than adult ones (462.1 ± 267.7, p = 0.001). Potentially harmful reporting features were present in both the adult and adolescent articles (12-82%). Few articles (0-15%) included protective features. Articles on adolescents were more adherent to the WHO guidelines for omitting specific information of suicide method and location. Conclusions: Significant differences were found in the press reporting of adolescent versus adult suicides, with adolescent suicides receiving more attention in terms of the number of articles and article length. Suicide press reporting can be improved. A close collaboration between journalists and suicide prevention experts may be beneficial.

Adults living with Duchenne muscular dystrophy: old and new challenges in a cohort of 19 patients in their third to fifth decade.

BACKGROUND AND PURPOSE: Advances in multidisciplinary care are extending overall survival in Duchenne muscular dystrophy (DMD) patients. Our research objective was to delineate the clinical characteristics of this particular cohort and identify novel challenges associated with the disease. METHODS: Nineteen individuals aged 25-48 years (median 34 years) with a confirmed diagnosis of out-of-frame DMD gene mutation were selected. RESULTS: All patients were mechanically ventilated (5/19 via tracheostomy), with different patterns of cardiomyopathy. Swallowing and nutritional issues were frequent (median body mass index 18.95), with six cases requiring artificial enteral feeding (median age at start 29 years), as well as bone density alterations (11/19, 58%). Only 2/19 had been on long-term prednisone therapy. Issues requiring at-home/hospital assistance were respiratory infections (15/19, 79%), gastroenterological symptoms (9/19, 47%, including toxic megacolon and rectal perforation after repeated enemas), metabolic acidosis (2/19, 11%) and recurrent ischaemic strokes (1/19, 5%). From a social perspective, augmented-alternative communication devices were necessary for 7/19 (37%), with most of the patients being assisted at home and 2/19 institutionalized. Eight/19 (42%) patients experienced psychiatric symptoms (median age at presentation 16 years) and 9/19 (47%) chronic pain (median age at onset 23 years), in both cases treated with psychoactive/analgesic drugs without major adverse events. The patients' subjective perception of physical health resulted in unfavourable scores, whilst the subjective assessment of mental health unexpectedly showed more positive values compared to other chronic neurological conditions. CONCLUSIONS: The analysis of adults living with DMD reveals several new health-related issues, such as the management of emergencies and safety of pharmacological treatments for psychiatric symptoms, chronic pain management, as well as an increasing caregivers burden.

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

OBJECTIVE: 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. ANN NEUROL 2023;94:1126-1135.

Sleep disturbances and emotional dysregulation in young children with autism spectrum, intellectual disability, or global developmental delay.

OBJECTIVE: Sleep disturbance and emotional dysregulation (ED) are common and often functionally impairing in young children with neurodevelopmental disorders (NDD). This study investigated the relationship between sleep disturbance and ED in a sample of preschoolers with ASD, intellectual disability, or global developmental delay, and examined possible predictors of their persistence over time. METHODS: All children under 6 years of age clinically referred between July 2018 and May 2022 to two neuropsychiatric specialized centers for NDD received a comprehensive diagnostic evaluation, including the Child Behavior Checklist 1.5-5 (CBCL), the Autism Diagnostic Observation Schedule-2 (ADOS-2), and standardized tests of cognitive and global development. Sleep disturbances were assessed with the CBCL-sleep score, and ED with the CBCL Attention, Aggression, and Anxious/Depressed scales (CBCL-AAA). A reassessment of sleep and ED was conducted after 6 months or longer, including the Child Sleep Habits Questionnaire (CSHQ). Multivariate analyses and mixed linear regression models were conducted. RESULTS: A total of 136 children, 75.7% male, median age 38.27 months, IQR 15.39, 41.2% with global developmental disorder (GDD) or intellectual disability (ID) participated in the study. Of them, 64.7% were diagnosed with autism spectrum disorder (ASD) and 35.3% with other NDD (w/o ASD). Sleep disturbances (CBCL-Sleep) and ED (CBCL-AAA) were positively correlated (p < 0.001), after accounting for age, ID/GDD and autism symptom severity, in both the entire sample and separately in each diagnostic group (ASD and NDD w/o ASD). Seventy-five children (55%) were reassessed a mean 17.2 months afterwards. There was persistence of the positive correlation between sleep problems and ED (p < 0.001) in both the entire sample and each diagnostic group. The longitudinal mixed linear model showed that ED at follow-up was predicted by baseline sleep problems (p = 0.008), ED (p < 0.001), and ASD severity (p = 0.015). CONCLUSIONS: Sleep disturbances are significantly associated with ED in young children with NDD, either with or without ASD, both cross-sectionally and prospectively over time. Sleep problems represent an important comorbidity and a potential treatment target for improving emotional stability in NDD.

Juvenile Myasthenia Gravis in a 14-year-old adolescent masked by mood disorder: the complex balance between neurology and psychiatry.

Juvenile Myasthenia Gravis (JMG) is a neuromuscular disease, often characterized at onset by fatigue and fluctuating weakness. We report a case of a girl affected by severe mood disorder, in which the diagnosis of JMG and its treatment were challenged by the concomitant psychiatric condition. A 14-year-old girl, with a history of severe mood disorder and emotional dysregulation, had been treated with benzodiazepines, sertraline, and antipsychotics, reporting generalized fatigability, weakness, and drowsiness, first ascribed to her psychiatric condition and therapy. After a suicide attempt, she was hospitalized and a neurological assessment revealed a fluctuating ptosis and facial weakness, that improved with rest. The diagnosis of JMG was confirmed by repeated nerve stimulation test, and by the response to pyridostigmine. Antibodies anti-AChR and anti-MuSK were negative. JMG diagnosis may be harder in adolescents with psychiatric comorbidity. Moreover, the neurological condition limits the choice of the appropriate psychopharmacotherapy.

Improving Recognition of Treatable Rare Neuromuscular Disorders in Primary Care: A Pilot Feasibility Study.

Innovative targeted treatments for neuromuscular disorders (NMDs) can dramatically improve the course of illness. Diagnostic delay, however, is a major impediment. Here, we present a pilot project aimed at assessing the feasibility of a screening program to identify children at high risk for NMDs within the first 30 months of life. The Promoting Early Diagnosis for Neuromuscular Disorders (PEDINE) project implemented a three-step sequential screening in an area of about 300,000 people with (1) an assessment of the motor development milestones to identify "red flags" for NMDs by primary care pediatricians (PCPs) as part of the routine Health Status Check visits; (2) for the children who screened positive, a community neuropsychiatric assessment, with further referral of suspected NMD cases to (3) a hospital-based specialized tertiary care center. In the first-year feasibility study, a total of 10,032 PCP visits were conducted, and twenty children (0.2% of the total Health Status Check visits) screened positive and were referred to the community neuropsychiatrist. Of these, four had elevated creatine kinase (CK) serum levels. This pilot study shows that screening for NMDs in primary care settings is feasible and allows children at high risk for muscular disorder to be promptly identified.

Cognitive, neuropsychological and emotional-behavioural functioning in a sample of children with myotonic dystrophy type 1.

AIM: An observational longitudinal study to evaluate the feasibility of assessing cognitive, neuropsychological and emotional-behavioural functioning in children with myotonic dystrophy type 1 (DM1), and to estimate prospectively changes in functioning over time. METHOD: Ten DM1 patients, aged 1.5-16 years (mean 9.1), 5 with congenital DM1, and 5 with childhood DM1, were assessed with standardized measures of intellectual, neuropsychological, and emotional-behavioural functioning. For 6 patients, assessments were repeated 2 years later. RESULTS: At baseline, intellectual disability was found both in the congenital and the childhood group. A clear-cut reduction of the mean and individual developmental/intelligence quotient after 2 years was demonstrated in re-tested patients. As regards to the neuropsychological aspects, the baseline evaluation identified impairments in visuospatial skills and attentional functions, with no clear trend observed after two years. In executive functions, no significant profile was identified even though impairments were detected in a few patients. At the emotional-behavioural assessment, scores in clinical range were found, but they remained heterogeneous and no trends could be recognized. CONCLUSION: Several aspects of CNS functions in DM1 children deserve better definition and a longitudinal assessment. A comprehensive protocol should include cognitive, neuropsychological, emotional and behavioural assessment but larger longitudinal studies are needed to better evaluate the trajectories over time and inform practice.

Psychopharmacological Treatments for Mental Disorders in Patients with Neuromuscular Diseases: A Scoping Review.

Mental disorders are observed in neuromuscular diseases, especially now that patients are living longer. Psychiatric symptoms may be severe and psychopharmacological treatments may be required. However, very little is known about pharmacotherapy in these conditions. We aimed to summarize the current knowledge on the use of psychopharmacological treatments for mental disorders in patients living with a neuromuscular disease. A scoping review was performed using the methodology of the Joanna Briggs Institute. Four databases were searched from January 2000 to July 2021. Articles were screened based on titles and abstracts. Full-text papers published in peer-reviewed journals in English were selected. Twenty-six articles met eligibility criteria, all being case reports/series focusing on the psychopharmacological control of psychiatric symptoms for the following conditions: myasthenia gravis (n = 11), Duchenne (n = 5) and Becker (n = 3) muscular dystrophy, mitochondrial disorders (n = 3), glycogen storage disease (n = 1), myotonic dystrophy (n = 1), hyperkalemic periodic paralysis (n = 1), and congenital myasthenic syndrome (n = 1). None of the articles provided details on the decision-making process to choose a specific drug/regimen or on follow-up strategies to monitor safety and efficacy. Larger studies showing real-world data would be required to guide consensus-based recommendations, thus improving current standards of care and, ultimately, the quality of life of patients and their families.

Development and application of a diagnostic and severity scale to grade post-operative pediatric cerebellar mutism syndrome.

The post-operative pediatric cerebellar mutism syndrome (CMS) affects about one-third of children and adolescents following surgical removal of a posterior fossa tumor (PFT). According to the Posterior Fossa Society consensus working definition, CMS is characterized by delayed-onset mutism/reduced speech and emotional lability after cerebellar or 4th ventricle tumor surgery in children, and is frequently accompanied by additional features such as hypotonia and oropharyngeal dysfunction/dysphagia. The main objective of this work was to develop a diagnostic scale to grade CMS duration and severity. Thirty consecutively referred subjects, aged 1-17 years (median 8 years, IQR 3-10), were evaluated with the proposed Post-Operative Pediatric CMS Survey after surgical resection of a PFT and, in case of CMS, for 30 days after the onset (T0) or until symptom remission. At day 30 (T1), CMS was classified into mild, moderate, or severe according to the proposed scale. CMS occurred in 13 patients (43%, 95% C.I.: 25.5-62.6%), with mild severity in 4 cases (31%), moderate in 4 (31%), and severe in 5 (38%). At T1, longer symptom persistence was associated with greater severity (p = 0.01). Greater severity at T0 predicted greater severity at T1 (p = 0.0001). Children with a midline tumor location and those aged under 5 years at diagnosis were at higher risk of CMS (p = 0.025 and p = 0.008, respectively). In conclusion, the proposed scale is a simple and applicable tool for estimating the severity of CMS at its onset, monitoring its course over time, and providing an early prognostic stratification to guide treatment decisions.

Assessing Cognitive Function in Neuromuscular Diseases: A Pilot Study in a Sample of Children and Adolescents.

Central nervous system (CNS) involvement has been variously studied in pediatric neuromuscular disorders (NMDs). The primary goal of this study was to assess cognitive functioning in NMDs, and secondary aims were to investigate possible associations of cognitive impairment with motor impairment, neurodevelopmental delay, and genotype. This was a cross-sectional study of 43 pediatric patients, affected by six NMDs. Myotonic dystrophy type 1 (DM1) and glycogen storage disease type 2 (GSD2) patients had a delay on the Bayley-III scales. On Wechsler scales, DMD and DM1 patients showed lower FSIQ scores, with an intellectual disability (ID) in 27% and 50%, respectively. FSIQ was normal in Becker muscular dystrophy (BMD), GSD2, and hereditary motor sensory neuropathy (HMSN) patients, while higher individual scores were found in the spinal muscular atrophy (SMA) group. In the DM1 cohort, lower FSIQ correlated with worse motor performance (ρ = 0.84, p < 0.05), and delayed speech acquisition was associated with ID (p = 0.048), with worse cognitive impairment in the congenital than in the infantile form (p = 0.04). This study provides further evidence of CNS in some NMDs and reinforces the need to include cognitive assessment in protocols of care of selected pediatric NMDs.