Search Results (209)

Background: Smith–Magenis syndrome (SMS) is a rare neurodevelopmental disorder characterized by severe sleep disturbances, circadian rhythm dysregulation, and prominent behavioral difficulties. Objective: To examine associations between subjective and objective sleep and circadian characteristics and behavioral difficulties in children with SMS in real life. Methods: Children aged 5–13 years with genetically confirmed SMS were included in a prospective single-center cohort study. Sleep and circadian rhythms were assessed using parent-reported questionnaires (Sleep Disturbance Scale for Children (SDSC), Horne and Östberg Morningness–Eveningness Questionnaire (H&O)) and 15-day home-based wrist actigraphy. Behavioral difficulties were evaluated using the Aberrant Behavior Checklist-Community (ABC-C). Associations between subjective and objective sleep and circadian measures with behavioral difficulties were studied using Spearman correlations for each ABC-C subscale. Results: Among the 20 children included (55% female, mean age 10 ± 2.5 years), 75% were carriers of a 17p11.2 microdeletion and 25% had an RAI1 mutation. Overall, 95% of children were treated with melatonin, 55% with psychostimulants and 20% with beta-blockers. According to the SDSC results, pathological sleep disturbances were present in 14/20 (70%) children and concerned mainly complaints of insomnia (10/20, 50%) and excessive daytime sleepiness (8/20, 40%). The H&O chronotypes confirmed the morning type in 70% of patients. Sleep and circadian measures obtained by actigraphy showed reduced total sleep time in 71% of the children, reduced sleep efficiency in 88%, long wake after sleep onset (WASO > 60 min) in 59%, as well as an early L5 onset (5 h period with the least movements < 23:38) and M10 onset (10 h period with the highest activity levels < 09:12) in 92% and 62% of children, respectively. The behavioral domains of the ABC-C with the highest scores were hyperactivity (mean 52.1, range 2.1–97.9) and irritability, agitation, and crying (mean 46.9, range 17.8–82.2). In the analysis of the relationship between behavior and sleep, a positive correlation was found between sleep disorders and stereotyped behaviors (r = 0.472, p = 0.048), insomnia and irritability, social withdrawal and stereotyped behaviors (r = 0.472, p = 0.048; r = 0.701, p = 0.001; and r = 0.648, p = 0.004, respectively), and non-restorative sleep and inappropriate speech (r = 0.476, p = 0.046). No significant association was found between objective sleep measures and behaviors. While subjective assessments suggested that a stronger morning chronotype was associated with lower irritability (r = −0.565, p = 0.015), actigraphy-derived circadian rhythm analyses revealed that an earlier L5 onset was associated with greater social withdrawal and hyperactivity (r = −0.556, p = 0.048 and r = −0.560, p = 0.049, respectively). Conclusions: The present cohort study of children with SMS studied in real-life conditions, using both objective and subjective measures, shows that patients continued to experience sleep and behavioral disturbances despite treatment. Exploratory analyses identified distinct associations between subjective sleep disturbances, circadian rhythm characteristics, and specific behavioral domains. While subjective sleep disturbances were associated with irritability, stereotypic behavior, and inappropriate speech, circadian rhythm parameters are specifically associated with hyperactivity. Both were also associated with social withdrawal. As these findings arise from an exploratory observational secondary analysis, they should be considered hypothesis-generating and require confirmation in larger prospective studies. If confirmed, they may help identify sleep and circadian rhythm characteristics as potential targets for future interventions in children with SMS. Full article

Background: Adolescence is a sensitive period during which sleep undergoes substantial change, increasing vulnerability to sleep disturbances and their health consequences. Psychological inflexibility (PI) and experiential avoidance (EA), operationalized through the Acceptance and Action Questionnaire-II (AAQ-II), have been associated with poorer sleep among adults; however, evidence in adolescents remains scarce. This study examined the association between PI, EA, and sleep-related problems in a representative sample of Spanish adolescents. Methods: A cross-sectional analysis was conducted using data from 623 adolescents (aged 12–17 years; 56.7% girls) from the Eating Healthy and Daily Life Activities (EHDLA) study, conducted in the Valle de Ricote (Murcia, Spain) during 2021–2022. PI and EA were assessed with the Spanish-validated AAQ-II; sleep-related problems were screened using the BEARS (B = Bedtime problems, E = Excessive daytime sleepiness, A = Awakenings during the night, R = Regularity and duration of sleep, S = Snoring) questionnaire across five domains. Generalized linear models were adjusted for sex, age, socioeconomic status, physical activity, sedentary behavior, body mass index (BMI) z-score, energy intake, and sleep duration. Results: Higher AAQ-II scores were significantly associated with increased probabilities of bedtime problems (+0.9% per point; 95% confidence interval [CI]: 0.6–1.1%), excessive daytime sleepiness (+1.0%; 95% CI: 0.7–1.2%), nocturnal awakenings (+0.7%; 95% CI: 0.5–1.0%), and problems with sleep regularity and duration (+0.8%; 95% CI: 0.5–1.1%). Each additional AAQ-II point increased the probability of reporting any sleep-related problem by 1.2% (95% CI: 0.9–1.5%; p < 0.001). Corresponding adjusted odds ratios ranged from 1.04 to 1.06 per point. No significant association was found for snoring. Conclusions: In this cross-sectional study, psychological inflexibility and experiential avoidance were positively associated with several sleep-related problems among adolescents. Longitudinal and intervention studies are warranted before causal or clinical recommendations can be made. Full article

Background and Objectives: Parkinson’s disease (PD) includes a prodromal phase characterized by non-motor symptoms (NMS). We investigated whether sleep disturbances co-aggregate with other NMS in suspected prodromal PD (p-PD) to refine early phenotyping and risk stratification. Materials and Methods: A population-based survey was conducted in Kaunas, Lithuania. Participants from the Kaunas City preventive health screening cohort (2024–2025) were screened using the Innsbruck REM Sleep Behaviour Disorder Inventory (RBD-I). Sixty-two individuals were included: 31 with suspected p-PD and 31 controls. Demographic characteristics, clinical features, sleep symptoms, olfactory function, autonomic symptoms, cognition, and mood were assessed. Between-group comparisons and within-group correlation analyses were performed. Results: Groups did not differ in age, sex, education, lifestyle exposures, or family history (all p > 0.05). Compared with controls, individuals with suspected p-PD had a higher prevalence of insomnia (71.0% vs. 12.9%, p < 0.001), pathological daytime sleepiness (22.6% vs. 0%, p = 0.005), cognitive impairment (54.8% vs. 16.1%, p = 0.001), and constipation (32.3% vs. 0%, p = 0.002). As expected from the predefined enrichment strategy, hyposmia and orthostatic hypotension (OH) were observed only among suspected p-PD participants. Within the suspected p-PD group, the Non-Motor Symptoms Questionnaire (NMSQ) scores correlated with depressive/anxiety symptoms (r = 0.578, p = 0.001). Olfactory dysfunction correlated with cognitive impairment (r = 0.410, p = 0.001) and depressive/anxiety symptoms (r = 0.396, p = 0.001). Conclusions: Sleep disturbances, particularly insomnia and excessive daytime sleepiness, co-occurred with cognitive, affective, and gastrointestinal non-motor manifestations in individuals with suspected p-PD, supporting the concept of a broader prodromal phenotype. Comprehensive screening in individuals with RBD symptoms may improve early PD risk stratification beyond single-marker approaches. Full article

Human African trypanosomiasis (HAT) or sleeping sickness is a neglected tropical disease with a progressive central nervous system (CNS) involvement and marked sleep and circadian rhythm abnormalities. Even though this is a prominent feature of HAT, the connection between parasite neuroinvasion, neuroinflammation, circadian dysfunction, and neurological impairment is not fully understood. This narrative review aims to summarize the most up-to-date knowledge about sleep and circadian disturbance in HAT and proposes an integrated approach for the Trypanosome-Associated Sleep Disorder (TASD). The relevant literature was identified by searching major biomedical databases for HAT, sleep disorders, circadian rhythms, neuroinflammation, and CNS invasion. The review covers the steps by which the CNS becomes invaded, how the barriers are disrupted, how the CNS becomes activated by inflammatory responses, and how the hypothalamic and circadian regulatory networks are disrupted. The evidence suggests that excessive daytime sleepiness, fragmented nocturnal sleep, circadian misalignment, and neuropsychiatric manifestations are related to the activation of inflammatory cytokines, altered neurotransmitter signaling, activation of the kynurenine pathway, dysregulation of clock genes, and disruption of the suprachiasmatic nucleus. We also discuss TASD as a syndrome-like phenotype of CNS involvement and propose a three-stage model of sleep–wake dysfunction in HAT. The review unites these integral mechanisms in a single mechanistic framework to offer a unified understanding of the sleep pathology associated with HAT. There are still important gaps in our knowledge of biomarkers, disease staging, and irreversible neuronal damage, which indicate priorities for future research and better clinical management. Full article

Background/Objectives: Obstructive sleep apnea (OSA) is associated with an increased risk of motor vehicle accidents, traditionally attributed to excessive daytime sleepiness (EDS). However, subjective sleepiness may be underreported and does not consistently reflect functional impairment. We aimed to examine the association between objectively measured drowsiness during simulated driving and traffic accidents in OSA, and to compare the predictive roles of objective drowsiness, subjective sleepiness, and OSA severity. Methods: Fifty-one male drivers underwent overnight polysomnography followed by a 50-min driving simulation. OSA severity was categorized as moderate-to-severe (AHI ≥ 15 events/h) or no/mild (AHI < 15 events/h). A frontal camera captured facial expressions. Drowsiness was quantified using eye-closure-based metrics: PERCLOS, the ratio of frames with closed eyes to total observable frames, and CLOSDUR, representing eye-closure duration. Drowsiness was defined as PERCLOS ≥ 0.3 or CLOSDUR ≥ 2 s. Drowsiness-related traffic accidents were recorded. Multivariable logistic regression models were adjusted for age, body mass index, Epworth Sleepiness Scale (ESS), and total sleep time. Results: Drowsiness-related traffic accidents occurred more frequently in participants with moderate-to-severe OSA than in those with no or mild OSA (72.2% vs. 40.0%, p = 0.030). Drowsiness duration, but not ESS, was positively associated with the number of traffic accidents (r = 0.46, p = 0.001). While continuous AHI was not associated with accidents, moderate-to-severe OSA was independently associated with higher accident risk (adjusted OR 6.45, 95% CI 1.43–29.13; p = 0.015). Conclusions: Driving-related accident risk in OSA was associated with objectively measured drowsiness and moderate-to-severe disease, whereas subjective sleepiness assessed by the ESS showed no significant association. These findings suggest that functional impairment, rather than self-reported symptoms, may be more relevant for identifying high-risk drivers. Full article

Background/Objectives: Daytime sleepiness in obstructive sleep apnea (OSA) shows substantial variability and is not fully explained by disease severity. This study aimed to evaluate whether a history of cancer is associated with subjective daytime sleepiness independently of respiratory burden. Methods: In this observational cohort study, 402 untreated patients with OSA were included. Cancer history was defined as a documented diagnosis of malignancy prior to baseline polygraphy. Daytime sleepiness was assessed using the Epworth Sleepiness Scale (ESS). Multivariable linear and logistic regression models were used to evaluate the association between cancer history and ESS (continuous and dichotomized as >10), adjusting for age, sex, body mass index, smoking status, chronic obstructive pulmonary disease, and apnea–hypopnea index (AHI). Sensitivity analyses additionally adjusted for heart disease and nocturnal hypoxic burden. Results: Sixty-two patients (15%) had a history of cancer. OSA severity and hypoxemia indices were comparable between groups. In multivariable analysis, cancer history was independently associated with modestly lower ESS scores (B = −1.66, 95% confidence interval [CI] −2.96 to −0.37; p = 0.012) and a reduced likelihood of excessive daytime sleepiness (ESS > 10) (odds ratio [OR] = 0.25, 95% CI 0.07 to 0.85; p = 0.027). Conclusions: In this real-world cohort of untreated patients with OSA, cancer history is associated with modestly lower subjective daytime sleepiness despite comparable disease severity, supporting a potential dissociation between physiological burden and symptom perception. These findings indicate that reliance on subjective sleepiness alone may contribute to under-recognition of clinically relevant OSA in patients with a cancer history. Full article

Background and Objectives: Obstructive sleep apnea (OSA) is a heterogeneous disease with diverse clinical presentations and high global prevalence. Obesity is a common comorbidity in OSA, but its relationship with symptom subtypes remains unclear. This study aimed to evaluate the association between OSA symptom subtypes and obesity in a clinical cohort. Methods: This observational study analyzed data from the Santiago Obstructive Sleep Apnea (SantOSA) prospective clinical cohort, including adults with OSA confirmed by home sleep apnea testing. Symptom subtypes were identified using latent class analysis. Associations between obesity and symptom subtypes were evaluated using multivariable regression models adjusted for age, sex, tobacco use, RDI, T90%, TST, hypertension, and diabetes. Statistical significance was set at p < 0.05. Results: A total of 1167 patients were included (943 men). Latent class analysis identified three symptom subtypes: non-sleepy, disturbed sleep, and excessive daytime sleepiness. Among obese patients, 30.7%, 50.0%, and 19.3% were classified into these subtypes, respectively. Obesity prevalence was 50.2%, and compared with non-obese OSA patients, obese patients showed a higher prevalence of severe OSA (46.1% vs. 26.9%), hypertension (54.4% vs. 34.9%), and diabetes (37.2% vs. 19.4%), as well as higher ESS scores and higher RDI and T90% values (all p < 0.01). In adjusted analyses, obesity remained independently associated with the excessive daytime sleepiness subtype after controlling for age, sex, tobacco use, RDI, T90%, TST, and comorbidities. Conclusions: Obesity is highly prevalent in OSA and is associated with specific symptom-defined phenotypes, particularly excessive daytime sleepiness and disturbed sleep. These findings support the relevance of considering symptom profiles alongside traditional severity metrics. Full article

Background: Insomnia symptoms associated with late chronotypes are prevalent among young adults, and frequently lead to sleep deprivation, morning-awakening difficulties, and excessive daytime sleepiness. These conditions are associated with psychological distress, impaired academic functioning, and reduced self-esteem. Although chronobiological behavioral interventions are effective, their accessibility remains limited. To bridge this gap, we developed a smartphone application delivering digital brief behavioral treatment for insomnia (BBT-I). We also designed a four-week program integrating the app with light therapy (LT) via wearable glasses named “Digital BBT-I + LT”. This randomized controlled trial will evaluate the efficacy of digital BBT-I with LT and digital BBT-I alone compared with a waitlist control group. Methods: This three-arm parallel-group randomized controlled trial will target young adults with insomnia symptoms and late chronotypes. Participants will be randomized to receive digital BBT-I with adjunctive LT, digital BBT-I alone, or a waitlist control condition. The primary outcome will be insomnia symptom severity, assessed using the Insomnia Severity Index. Evaluations will be conducted at baseline, weekly during the four-week intervention period (days 8, 15, 22, and 29), and at the 3-month follow-up. Discussion: Late chronotypes and insomnia significantly impair sleep and mental health in young adults. Despite the recognized importance of chronobiology-based treatments, they are rarely adopted as standard care. This highlights the need for scalable digital interventions, such as digital BBT-I. By rigorously assessing these strategies, this trial aims to provide clinical evidence regarding accessible interventions to improve sleep and mental health outcomes in this population. Full article

Brain and muscle Arnt-like protein 1 (BMAL1) is a transcription factor that forms heterodimers with circadian locomotor output cycles kaput (CLOCK) and drives transcription from E-box elements, thereby regulating the circadian rhythms of gene expression. The kidney expresses numerous rhythmic genes and exhibits circadian physiological function regulation. Circadian rhythm abnormalities, such as sleep disorders and excessive daytime sleepiness, are particularly frequent in patients with chronic kidney disease (CKD). Furthermore, reduced amplitude and phase disruption in clock gene expression rhythms have been reported in mouse CKD models. These results suggest that circadian disruption is associated with renal pathophysiology. However, the role of BMAL1 in the repair process following acute kidney injury (AKI) remains unclear; therefore, this study aimed to elucidate its role in kidney repair following ischemia–reperfusion injury (IRI). We found that the tamoxifen (TAM)-inducible global Bmal1 knockout (BKO) mouse kidneys exhibited increased lipid accumulation, enhanced fibrosis, and delayed kidney repair post-IRI, and that these abnormalities were associated with reduced Peroxisome proliferator-activated receptor alpha (Pparα) expression. Furthermore, treatment with a PPARα agonist reduced these abnormalities in BKO mice. Collectively, our findings demonstrate that the BMAL1–PPARα axis promotes post-AKI kidney repair. Full article

Background/Objectives: Freezing of gait (FOG) and sleep disturbances are common in people with Parkinson’s disease (PwPD). A bidirectional association between them has been suggested, but quantitative evaluations are scarce. This study aimed to compare sleep disturbances in mild-to-moderate PwPD with (PD+FOG) and without FOG (PD−FOG), and to assess the association between FOG severity and sleep parameters. Methods: Data from 54 PwPD with disease stage <4 and no severe cognitive decline were included (27 PD+FOG and 27 propensity score-matched for age, sex, and disease duration PD−FOG). Demographics and clinical variables were collected. Clinical assessment included the new freezing of gait questionnaire (NFOG-Q), Parkinson’s Disease Sleep Scale (PDSS-2), Epworth Sleepiness Scale (ESS) and Movement Disorder Society Unified Parkinson’s Disease Rating Scale (MDS-UPDRS). Mann–Whitney U, Fisher’s exact and Spearman’s tests were used for group comparisons and correlations, respectively. Results: Significant differences were observed between PD+FOG and PD−FOG groups in MDS-UPDRS part II (p = 0.011) and part IV (p = 0.011), with higher scores in PD+FOG participants. No significant differences were found in PDSS-2 or ESS between the two groups. A significant moderate positive correlation was found between NFOG-Q score and PDSS-2 (ρ = 0.416; p = 0.044) in PD+FOG participants. Conclusions: FOG severity was positively associated with sleep disturbances within the PD+FOG group. However, no significant difference in sleep quality or excessive daytime sleepiness was found between PD+FOG and PD−FOG after propensity score matching. PD+FOG participants experienced more severe motor complications and greater impairment in daily activities compared to PD−FOG. Full article

Background and Objectives: Pregnancy causes various physiological and hormonal changes that disrupt sleep architecture and modify respiratory patterns, increasing the risk of sleep-related breathing disorders (SBDs) such as obstructive sleep apnea (OSA) and potentially exacerbating pre-existing conditions. These disorders have been linked to adverse maternal and fetal outcomes. However, current screening tools remain inadequate, and data, including from Portugal, remain limited. This study aimed to assess the prevalence of SBD symptoms suggestive of sleep-disordered breathing during pregnancy, characterize the population, and explore associations with demographic and anthropometric parameters. Materials and Methods: A prospective observational study was conducted from July to December 2024 at Hospital da Luz Lisboa, involving pregnant women ≥ 18 years attending routine consultations. Participants completed a structured questionnaire that assessed demographic and anthropometric data, comorbidities, ten SBD symptoms, and the Epworth Sleepiness Scale (ESS). Results: The cohort included 289 participants, with a mean age of 34.4 years and pre-pregnancy body mass index (BMI) of 23.6 kg/m². On average, women reported 3.1 SBD symptoms, with fatigue (65.4%), memory/concentration impairment (52.2%), and non-restorative sleep (50.5%) being the most common. Excessive daytime sleepiness (ESS >10) was present in 22.8% of the population. Snoring was significantly associated with older age and higher BMI (p = 0.0009 and p < 0.0001, respectively). Both the number of symptoms and ESS scores tended to increase with gestational age, particularly in the third trimester. Women with diabetes had higher odds of reporting snoring, nocturnal dyspnea, and witnessed apneas, with odds ratios of 4.65, 8.77, and 11.38, respectively. Conclusions: SBD symptoms and daytime sleepiness are highly prevalent in pregnancy and typically increase with advancing gestation. These findings emphasize the need for improved clinical strategies to enable early identification and management of SBD in pregnant women, thereby reducing maternal-fetal complications. Full article

Background: Sleep disturbance is a well-recognized contributor to headache burden, yet the specific sleep domains associated with disability may differ between episodic migraine (EM) and episodic cluster headache (ECH). Methods: In this prospective observational study, 20 EM patients, 21 ECH patients, and 18 age-, sex-, and BMI-matched healthy controls (HCs) were evaluated during interictal periods. None of the patients were receiving prophylactic headache treatment. Sleep was assessed using the Pittsburgh Sleep Quality Index (PSQI), Insomnia Severity Index (ISI), Epworth Sleepiness Scale (ESS), and Sleep Hygiene Index (SHI). Psychological status was measured with the Hospital Anxiety and Depression Scale (HADS). Headache-related disability was assessed using the Headache Impact Test-6 (HIT-6) as a continuous outcome. Separate multivariable linear regression models were constructed for each headache group. Results: Both headache groups showed significantly impaired sleep and higher anxiety and depression scores compared with controls (all p < 0.001). HIT-6 scores did not differ between EM and ECH (p = 0.770 after Bonferroni correction). In multivariable regression, excessive daytime sleepiness (ESS) independently predicted disability in EM (B = 1.633, p = 0.033; R² = 0.571). In ECH, global sleep quality (PSQI; B = 0.701, p = 0.004) and sleep hygiene (SHI; B = 0.557, p = 0.033) were independently associated with HIT-6 (R² = 0.562). No significant multicollinearity was observed (all VIF < 2.5). Conclusions: Sleep disturbance is prevalent in both EM and ECH; however, the sleep domains associated with disability differ between phenotypes. Daytime sleepiness is more relevant in EM, whereas global sleep quality and sleep hygiene are more strongly associated with disability in ECH. These findings support a phenotype-specific approach to sleep assessment in headache management. Full article

Background: Gaucher disease (GD) is a rare lysosomal storage disorder caused by mutations in the GBA1 gene. Traditionally, GD is classified into three subtypes based on the severity of neurological involvement; however, overlapping clinical features increasingly suggest a continuum of phenotypes rather than distinct categories. In this prospective observational cohort study, we conducted a multidisciplinary assessment of patients with GD to identify and monitor neurological, cognitive, auditory, and visual impairments. Materials and Methods: A comprehensive clinical and instrumental evaluation was performed at baseline and repeated at follow-up, with a median interval of 37 months (IQR 36–38). Neurological assessments included physical examination, clinical rating scales, video-EEG, and brain MRI. Cognitive status was assessed using a standardized battery of neuropsychological tests. Detailed audiological and ophthalmological evaluations were also conducted. Paired parametric or non-parametric tests were applied as appropriate, with Bonferroni correction for cognitive outcomes (p < 0.05). Results: Of the 22 patients assessed at baseline, 18 completed the follow-up evaluation. Neurological assessments showed a worsening of subtle parkinsonian signs, with significant increases in Movement Disorder Society–Unified Parkinson’s Disease Rating Scale Part III scores (p = 0.04) and non-motor symptom scores (p = 0.01). Two of the eighteen patients developed epilepsy during follow-up. A high prevalence of sleep disturbances was confirmed, with 27.8% exhibiting excessive daytime sleepiness and 16.7% reporting REM sleep behaviour disorder on standardized questionnaires. Compared with baseline, cognitive assessments revealed a higher proportion of patients with performance below normative population scores in at least one cognitive domain, particularly memory. Sensorineural hearing loss was confirmed in 11 of 15 patients (73.3%) who underwent audiological evaluation, with progressive worsening of audiometric thresholds observed in 7 of 11 (64%). Ophthalmological evaluations showed no changes in visual acuity or OCT findings; however, multifocal electroretinography abnormalities were detected in 12 of 13 patients. Conclusions: Through in-depth phenotyping, this study identifies measurable neurological, cognitive, and sensory progressive changes in patients with GD over time, supporting the value of tailored, multidisciplinary long-term care strategies to monitor and address emerging clinical needs in this rare disease. Full article

Background/Objectives: While the number and severity of comorbidities affecting survivors of craniopharyngioma (CP) are well documented, little is known about the perspectives of caregivers and survivors regarding treatment priorities. This study aimed to describe the views of caregivers and self-reported survivors on the comorbidities that most significantly impact CP survivors and to identify areas where new treatments are most needed. Methods: Completed surveys of 161 participants recruited in the hypothalamic–pituitary brain tumor patient registry were analyzed. Results: Participants represented 40% caregivers (mostly children) and 60% adult CP survivors, with notable differences in disease duration, age, CP onset, and living conditions. Seventeen health challenges were identified as most important by more than 50% of participants, including symptoms characteristic of hypothalamic dysfunction, neurological issues, and visual impairment. Notably, those differed from the most frequently experienced symptoms. No significant differences emerged between the two groups except for polydipsia, which had a greater impact on self-reported survivors. Most challenges primarily affected the survivors’ daily functioning; however, abnormal social behaviors equally impaired their ability to achieve long-term goals. Temperature dysregulation was the only symptom not deemed very or extremely important in prioritizing new treatment development. Both groups generally aligned on treatment priorities, though survivors placed a modest but significantly greater importance on fatigue and excessive daytime sleepiness, while caregivers placed a modest but significantly greater importance on obesity. Conclusions: Real-world survivor and caregiver perspectives on priority symptoms and treatments can inform care management, strengthen support strategies, and guide patient-focused drug development meaningful to CP survivors. Full article

Background: Sexual dysfunction (SD) and sleep disturbances are frequent but underrecognized non-motor symptoms in Parkinson’s disease (PD) and significantly affect quality of life. However, the relationships among sexual dysfunction, sleep quality, and excessive daytime sleepiness (EDS) and the possible sex-related differences remain insufficiently investigated. Methods: In this cross-sectional case–control study, we evaluated these non-motor symptoms in 147 Turkish patients with PD and 160 age- and sex-matched healthy controls, and we assessed their associations and impact on quality of life, with particular attention to sex-specific patterns. Sexual function was assessed using the Arizona Sexual Experiences Scale (ASEX), sleep quality using the Pittsburgh Sleep Quality Index (PSQI), daytime sleepiness using the Epworth Sleepiness Scale (ESS), quality of life using the 39-item Parkinson’s Disease Questionnaire (PDQ-39), and disease severity using the Unified Parkinson’s Disease Rating Scale (UPDRS) and Hoehn and Yahr (H&Y) staging scale. Group comparisons, correlation analyses, and sex-stratified subgroup analyses were performed. Results: Patients with PD had significantly higher ASEX, PSQI, and ESS scores compared with controls (p < 0.01), and women with PD had significantly higher total ASEX scores than men, indicating greater sexual dysfunction. Sexual dysfunction was significantly associated with poor sleep quality and excessive daytime sleepiness but showed no significant association with the motor severity measures (UPDRS, H&Y stage). Sleep quality, as measured via PSQI scores, was worse in patients with PD, and poor sleep quality and excessive daytime sleepiness were both associated with significantly worse quality of life. Conclusions: According to our findings, sexual dysfunction and sleep disturbances are interrelated non-motor symptoms that significantly impair quality of life, largely independently of motor severity, and these associations were particularly pronounced among women. A combined evaluation of sleep and sexual function may therefore improve the recognition and management of the non-motor burden in PD. Full article