<p>The importance of considering non-motor symptoms (NMS) in the assessment of patients with movement disorders is widely recognized.<span><sup>1</sup></span> In adults, symptoms such as pain, sleep disturbances, anxiety, fatigue, and cognitive dysfunction can be systematically evaluated, sometimes with validated, condition-specific scales.<span><sup>2, 3</sup></span> For example, the Pain in Dystonia Scale (PIDS) has been recently developed for pain assessment across the spectrum of adult-onset isolated dystonia.<span><sup>4</sup></span> In children, however, the evaluation of NMS remains inconsistent, fragmented, and poorly standardized.<span><sup>1</sup></span> Yet, NMS are often disabling and have substantial consequences for the quality of life of children with movement disorders and their families.<span><sup>5</sup></span> In a recent scoping review,<span><sup>6</sup></span> we provide a timely overview of NMS scales used in children with movement disorders, focusing on the three most prevalent conditions, namely dystonia, tics, and cerebral palsy (CP).<span><sup>7-9</sup></span> We identified <i>a large and heterogeneous set of instruments</i> across 382 studies. They were mostly borrowed from neurological conditions typically presenting in adulthood and other pediatric psychiatric conditions, leaving one to wonder whether they have similar accuracy and clinical relevance also in pediatric movement disorders. Here, we advocate for the development of condition-specific, developmentally appropriate, and clinically meaningful tools, and outline key priorities for achieving this goal.</p><p>A major finding of our review was the heterogeneity of NMS assessment tools in children with movement disorders.<span><sup>6</sup></span> Among the included studies, we catalogued more than 500 distinct rating instruments, and only about 60 were used in more than one study. Very few were designed for pediatric movement disorders, and full psychometric validation in the target populations was uncommon (10 studies, 7%). This leads to a paradox. Numerous instruments are available, yet their precision and disease-specific relevance are often uncertain, and disorder-specific NMS scales remain scarce. As a result, clinicians and researchers frequently default to generic measures rather than condition-sensitive tools.</p><p>For example, in the domain of sleep, 13 distinct tools were used across 24 studies, predominantly parent-reported questionnaires such as the Children's Sleep Habits Questionnaire (CSHQ), the Sleep Disturbance Scale for Children (SDSC), and the Pediatric Sleep Questionnaire (PSQ), together with objective methods (actigraphy, polysomnography).<span><sup>10-12</sup></span> Questionnaires based on child self-report appeared only sporadically (eg, Insomnia Severity Index),<span><sup>13</sup></span> and clinician-administered tools were rare and mainly cited in reviews (eg, bedtime issues, excessive daytime sleepiness, awakenings, regularity/duration
{"title":"Non-motor Symptom Scales in Pediatric Movement Disorders: A Call for Diagnostic-Specific Tools","authors":"Clément Desjardins MD, MSc, Christelle Nilles MD, Hortensia Gimeno PhD, Kathryn J. Peall MD, PhD, Davide Martino MD, PhD, Tamara Pringsheim MD, PhD, Emmanuel Roze MD, PhD","doi":"10.1002/mds.70122","DOIUrl":"10.1002/mds.70122","url":null,"abstract":"<p>The importance of considering non-motor symptoms (NMS) in the assessment of patients with movement disorders is widely recognized.<span><sup>1</sup></span> In adults, symptoms such as pain, sleep disturbances, anxiety, fatigue, and cognitive dysfunction can be systematically evaluated, sometimes with validated, condition-specific scales.<span><sup>2, 3</sup></span> For example, the Pain in Dystonia Scale (PIDS) has been recently developed for pain assessment across the spectrum of adult-onset isolated dystonia.<span><sup>4</sup></span> In children, however, the evaluation of NMS remains inconsistent, fragmented, and poorly standardized.<span><sup>1</sup></span> Yet, NMS are often disabling and have substantial consequences for the quality of life of children with movement disorders and their families.<span><sup>5</sup></span> In a recent scoping review,<span><sup>6</sup></span> we provide a timely overview of NMS scales used in children with movement disorders, focusing on the three most prevalent conditions, namely dystonia, tics, and cerebral palsy (CP).<span><sup>7-9</sup></span> We identified <i>a large and heterogeneous set of instruments</i> across 382 studies. They were mostly borrowed from neurological conditions typically presenting in adulthood and other pediatric psychiatric conditions, leaving one to wonder whether they have similar accuracy and clinical relevance also in pediatric movement disorders. Here, we advocate for the development of condition-specific, developmentally appropriate, and clinically meaningful tools, and outline key priorities for achieving this goal.</p><p>A major finding of our review was the heterogeneity of NMS assessment tools in children with movement disorders.<span><sup>6</sup></span> Among the included studies, we catalogued more than 500 distinct rating instruments, and only about 60 were used in more than one study. Very few were designed for pediatric movement disorders, and full psychometric validation in the target populations was uncommon (10 studies, 7%). This leads to a paradox. Numerous instruments are available, yet their precision and disease-specific relevance are often uncertain, and disorder-specific NMS scales remain scarce. As a result, clinicians and researchers frequently default to generic measures rather than condition-sensitive tools.</p><p>For example, in the domain of sleep, 13 distinct tools were used across 24 studies, predominantly parent-reported questionnaires such as the Children's Sleep Habits Questionnaire (CSHQ), the Sleep Disturbance Scale for Children (SDSC), and the Pediatric Sleep Questionnaire (PSQ), together with objective methods (actigraphy, polysomnography).<span><sup>10-12</sup></span> Questionnaires based on child self-report appeared only sporadically (eg, Insomnia Severity Index),<span><sup>13</sup></span> and clinician-administered tools were rare and mainly cited in reviews (eg, bedtime issues, excessive daytime sleepiness, awakenings, regularity/duration","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"41 1","pages":"63-67"},"PeriodicalIF":7.6,"publicationDate":"2025-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://movementdisorders.onlinelibrary.wiley.com/doi/epdf/10.1002/mds.70122","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145498751","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Marta Camacho, Julia C. Greenland, Alexander R.D. Peattie, Lennart R.B. Spindler, Jonathan Holbrook, Lakmini Kahanawita, Tim D. Fryer, Young T. Hong, Caroline H. Williams‐Gray
Depression frequently precedes motor symptoms in Huntington's disease gene expansion carriers (HDGECs), yet the neural mechanisms remain poorly characterized.
Objective
We investigated effective connectivity between the default mode network (DMN) and striatal regions in HDGECs.
Methods
We analyzed 3-T resting-state functional magnetic resonance imaging data from 98 HDGECs (48.98% females; mean age, 42.82 years). Spectral dynamic causal modeling estimated subject-level connectivity, whereas parametric empirical Bayes determined group-level effective connectivity differences between participants with a diagnosed depression history and those without, across current, remitted, and never-depressed states. Brain-behavior associations with clinical depression measures were examined.
Results
Model estimation was excellent (89.82% variance-explained). HDGECs with depression history showed decreased inhibitory posterior cingulate cortex-to-hippocampal connectivity, increased hippocampus-to-posterior cingulate cortex inhibition, and increased inhibitory influence of striatum on DMN. HDGECs with a depression history showed increased inhibitory striatal influence on DMN, including left putamen, a propensity for right hippocampal involvement, and disinhibitory posterior cingulate-hippocampal connectivity. Current versus never-depressed comparisons showed more pronounced dysconnectivity, with stronger striatum-to-network connections. Current versus remitted depression exhibited distinct patterns with increased medial prefrontal cortex-to-posterior cingulate cortex connectivity, increased medial prefrontal cortex self-connectivity, and decreased posterior cingulate cortex-to-medial prefrontal cortex connectivity.
Ana Westenberger, Edgard Verdura, Mandy Radefeldt, Leslie E. Sanderson, Kornelia Tripolszki, Anna Marcé-Grau, Ana Cazurro-Gutiérrez, Anita Nikoncuk, Rebecca Herzog, Ruslan Al-Ali, Mariana Ferreira, Ligia S. Almeida, Tainá Regina Damaceno Silveira, Suliman Khan, Raphael Doyle Maia, Péter Klivényi, András Salamon, Volkan Baltaci, Asli Subasioglu, Jeanette Prada-Arismendy, Goran Čuturilo, Sebastian Loens, Vera Tadic, Isabelle Maystadt, Deniz Karadurmus, Barbara Leube, Jonathan De Winter, Alice Monticelli, Liesbeth De Waele, Jonathan Baets, Mateja Vinkšel, Aleš Maver, Lorena Tschopp, Gabriela Ziegler, Ana Sanguinetti, Katja Lohmann, Tahsin Stefan Barakat, Peter Bauer, Belén Perez-Dueñas, Aida M. Bertoli-Avella
Background
DYT-VPS16, an early-onset isolated dystonia caused by variants in the VPS16 gene, has been reported in fewer than 70 patients.
Methods
We explored the clinical and genotypic spectrum of DYT-VPS16 by investigating early-onset dystonia patients with VPS16 variants discovered in our large Biodatabank and through gene-matching initiatives. Patient samples were analyzed by exome/Sanger and RNA/cDNA sequencing.
Results
We identified 16 previously unreported DYT-VPS16 patients (7 male, median age at onset [AAO]: 12 years). Patients with initial leg involvement had an AAO more than 10 years earlier than those with involvement of the arms/craniocervical region. Dystonia progressed in 95%, generalized in 50%, and was accompanied by pyramidal, cerebellar, or psychiatric features in 25% of patients. Two young individuals benefited greatly from timely deep brain stimulation (DBS) surgery. Of the 11 identified VPS16 variants, 10 were novel. Utilizing RNA-Seq or cDNA sequencing, we discovered alternatively spliced transcripts, thereby elucidating the effects of splice-site, near-splice-site, and exonic variants.
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