Depósito Académico
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- The profile of social communication in Dravet syndrome(Elsevier, 2024) Laña, B. (Borja); Sanchez-Carpintero, R. (Rocío); Crespo-Eguilaz, N. (Nerea)Dravet syndrome (DS) presents a multifaceted clinical picture marked by epilepsy, cognitive impairments and behavioral disorders that progresses throughout development. Behavioral disorders include impairments in social relationships and communication, with frequent diagnosis of autism spectrum disorder. This study focused on comprehensively evaluating and comparing social communication profiles among a group of 43 children with Dravet syndrome, 30 children with level 1 autism spectrum disorder, 36 with social (pragmatic) communication disorder, and 18 with intellectual disability. Using validated tools like the Childhood Autism Spectrum Test and Children’s Communication Checklist, distinct patterns of social communication deficits were delineated. Our findings indicate that children with Dravet syndrome experience challenges in social relationships, primarily due to difficulties in use of pragmatic language. Areas such as range of interests and social interaction are less affected compared to those with ASD, emphasizing differing profiles between the conditions. While children with DS and ID may have similar intellectual functioning, the different social communication deficits in DS indicate their role in the DS phenotype beyond ID. These results underscore the unique social communication profile of DS and emphasizes the importance of tailored interventions and deep phenotyping efforts for effective DS management.
- Association between co‐sleeping in the first year of life and preschoolers ́ sleep patterns(Springer, 2024) Garrido, S. (Silvia); García, P. (Pilar); Cavallaro, G. (Giacomo); Garrido, F. (Felipe); González-Caballero, J.L. (Juan Luis); Raffaeli, G. (Genny); Atance, V. (Verónica); González, L. (Lucía); Gianni, M.L. (Maria Lorella)This study aimed to investigate the association between co-sleeping practiced during the first year of life and preschoolers' sleep patterns. A cross-sectional study including toddlers was designed to analyze their sleep patterns. The Brief Infant Sleep Questionnaire, validated in Spanish, was used to measure sleep quality. A latent class analysis was performed to identify qualitative subgroups in the sample and explore the effects of co-sleeping. The sleep patterns of 276 children were analyzed. A total of 181 (65%) parents reported having practiced co-sleeping with their children. The latent class analysis identified a two-class solution with two different sleep patterns. One of them showed a worse quality sleep pattern, which had a significant association with having practiced co-sleeping during the first year of life, and with the fact that they were still sleeping in the parents' room, among other characteristics related to co-sleeping and parental concerns. Breastfeeding also showed association with a worse quality sleep pattern. Conclusion: Based on the present findings, co-sleeping during the first year of life appears to be associated with poor sleep patterns in young preschoolers.
- Preferential expression of SCN1A in GABAergic neurons improves survival and epileptic phenotype in a mouse model of Dravet syndrome(2023) Rubinstein, M. (Moran); Honrubia, A. (Adriana); Vides-Urrestarazu, I. (Irene); Ricobaraza, A. (Ana); Lanciego, J.L. (José Luis); Fadila, S. (Saja); Sanchez-Carpintero, R. (Rocío); Roda, E. (Elvira); Arnaiz, P. (Patricia); Banderas, J. (Julliana); Sola-Sevilla, N. (Noemi); Hernandez-Alcoceba, R. (Rubén); Buñuales, M. (María); Gonzalez-Aparicio, M. (Manuela)The SCN1A gene encodes the alpha subunit of a voltage-gated sodium channel (Nav1.1), which is essential for the function of inhibitory neurons in the brain. Mutations in this gene cause severe encephalopathies such as Dravet syndrome (DS). Upregulation of SCN1A expression by different approaches has demonstrated promising therapeutic effects in preclinical models of DS. Limiting the effect to inhibitory neurons may contribute to the restoration of brain homeostasis, increasing the safety and efficacy of the treatment. In this work, we have evaluated different approaches to obtain preferential expression of the full SCN1A cDNA (6 Kb) in GABAergic neurons, using high-capacity adenoviral vectors (HC-AdV). In order to favour infection of these cells, we considered ErbB4 as a surface target. Incorporation of the EGF-like domain from neuregulin 1 alpha (NRG1α) in the fiber of adenovirus capsid allowed preferential infection in cells lines expressing ErbB4. However, it had no impact on the infectivity of the vector in primary cultures or in vivo. For transcriptional control of transgene expression, we developed a regulatory sequence (DP3V) based on the Distal-less homolog enhancer (Dlx), the vesicular GABA transporter (VGAT) promoter, and a portion of the SCN1A gene. The hybrid DP3V promoter allowed preferential expression of transgenes in GABAergic neurons both in vitro and in vivo. A new HC-AdV expressing SCN1A under the control of this promoter showed improved survival and amelioration of the epileptic phenotype in a DS mouse model. These results increase the repertoire of gene therapy vectors for the treatment of DS and indicate a new avenue for the refinement of gene supplementation in this disease. KEY MESSAGES: Adenoviral vectors can deliver the SCN1A cDNA and are amenable for targeting. An adenoviral vector displaying an ErbB4 ligand in the capsid does not target GABAergic neurons. A hybrid promoter allows preferential expression of transgenes in GABAergic neurons. Preferential expression of SCN1A in GABAergic cells is therapeutic in a Dravet syndrome model.
- Dental caries in children and vitamin D deficiency: a narrative review(Springer, 2024) Durá-Travé, T. (Teodoro); Gallinas-Victoriano, F. (Fidel)Dental caries represents one of the most prevalent health problems in childhood. Numerous studies have assessed that vitamin D deficiency is highly related to dental caries in primary and permanent teeth in children. The aim of this study is to elaborate a narrative review about proposed mechanisms by which vitamin D deficiency interacts with dental caries process in children. Vitamin D deficiency during pregnancy may cause intrauterine enamel defects, and through childhood is accompanied by insufficient activity of antibacterial peptides, decreased saliva secretion, and a low level of calcium in saliva. Conclusion: In conclusion, vitamin D deficiency would increase the risk of caries in the primary and/or permanent dentition. Relationship between vitamin D deficiency and dental caries is evident enough for vitamin D deficiency to be considered as a risk factor for dental caries in children. Optimal levels of vitamin D throughout pregnancy and childhood may be considered an additional preventive measure for dental caries in the primary and permanent dentition.
- Oncolytic virotherapy for the treatment of pediatric brainstem gliomas(Elsevier, 2023) Alonso, M.M. (Marta M.); Garcia-Moure, M. (Marc); Gallego-Perez-Larraya, J. (Jaime)Diffuse intrinsic pontine glioma (DIPG) is the most frequent brainstem glioma and the most lethal brain tumor in childhood. Despite transient benefit with radiotherapy, the prognosis of children with this disease remains dismal with severe neurological morbidity and median survival less than 12 months. Oncolytic immunovirotherapy is emerging as a potential therapeutic approach in neuro-oncology. The oncolytic adenovirus Delta-24-RGD has shown efficacy in adult patients with recurrent GBM. Our group has demonstrated that Delta-24-RGD has oncolytic activity and triggers immune response in preclinical models of DIPG, and has a synergistic effect with radiotherapy in animal models of this disease. In this scenario, we conducted a first-in-human phase 1 clinical trial to evaluate the safety and efficacy of intratumoral injection of Delta-24-RGD in pediatric patients with newly diagnosed DIPG prior to standard radiotherapy. The study confirmed the feasibility of this treatment with an acceptable safety profile and encouraging efficacy results. Correlative analyses showed a biological activity from Delta-24-RGD in DIPG. Further advanced trials are needed to validate these results. Meanwhile, plenty of opportunities to increase the potential contribution of oncolytic viruses in the management of devastating tumors with no current effective treatment such as DIPG need to be explored and exploited.
- Higher adherence to the Mediterranean Diet is associated with lower micronutrient inadequacy in children: the SENDO project(Cambridge University Press, 2023) Martinez-Gonzalez, M.A. (Miguel Ángel); Martin-Calvo, N. (Nerea); Oliver, A. (Asier); García-Blancos, L. (Lorena); Moreno-Villares, J.M. (José Manuel); Fabios, E. (Elise)Objective: To assess whether the Mediterranean Diet (MedDiet) is associated with lower micronutrients inadequacy in a sample of Spanish preschoolers. Design: We conducted a cross-sectional study with 4-5-year-old children participating in the SENDO project. Information was gathered through an online questionnaire completed by parents. Dietary information was collected with a previously validated semi-quantitative FFQ. The estimated average requirements or adequate intake levels as proposed by the Institute of Medicine were used as cut-off point to define inadequate intake. Statistical analyses: Crude and multivariable adjusted estimates were calculated with generalised estimated equations to account for intra-cluster correlation between siblings. Participants: We used baseline information of 1153 participants enrolled in the SENDO project between January 2015 and June 2022. Main outcomes measures: OR and 95 % CI of presenting an inadequate intake of ≥ 3 micronutrients associated with the MedDiet. Results: The adjusted proportion of children with inadequate intake of ≥ 3 micronutrients was 27·2 %, 13·5 % and 8·1 % in the categories of low, medium and high adherence to the MedDiet, respectively. After adjusting for all potential confounders, children who had a low adherence to the MedDiet showed a significant lower odds of inadequate intake of ≥ 3 micronutrients compared to those with a high adherence (OR 9·85; 95 % CI 3·33, 29·09). Conclusion: Lower adherence to the MedDiet is associated with higher odds of nutritional inadequacy.
- Validación de los datos antropométricos declarados por padres de participantes en el proyecto SENDO(Scielo, 2022) Martinez-Gonzalez, M.A. (Miguel Ángel); Martin-Calvo, N. (Nerea); Oliver, A. (Asier); Martin-López, L. (Laura); De-la-O-Pascual, V. (Víctor); Moreno-Villares, J.M. (José Manuel)Objetivo: analizar la validez de las medidas antropométricas declaradas por los padres de los participantes en el proyecto SENDO. Método: el proyecto SENDO (SEguimiento del Niño para un Desarrollo Óptimo) es una cohorte pediátrica abierta y prospectiva. Los participantes se reclutan cuando tienen entre 4 y 6 años, y se siguen anualmente mediante un cuestionario “online”. En una submuestra de 82 participantes, se comparó la información antropométrica declarada en el cuestionario basal con las mediciones directas recogidas por el personal investigador. Para ello, se calcularon el índice de correlación intraclase (ICC) y el coeficiente de mala clasificación de Bland-Altman. Resultados: el ICC fue de 0,96 (intervalo de confianza [IC] del 95 %: 0,94-0,98) para el peso; de 0,95 (IC 95 %: 0,92-0,96) para la altura; de 0,75 (IC 95 %: 0,64-0,86) para el perímetro de la cintura, y de 0,84 (IC 95 %: 0,76-0,89) para el perímetro de la cadera. En relación a los índices calculados a partir de esas mediciones, se encontró un ICC de 0,84 (IC 95 %: 0,77-0,90) para el índice de masa corporal; de 0,46 (IC 95 %: 0,27-0,62) para el cociente cintura-cadera, y de 0,59 (IC 95 %: 0,43-0,72) para el índice cintura-altura. El índice de mala clasificación de Bland-Altman osciló entre el 3,7 % para el peso y el 8,5 % para el índice de masa corporal. Conclusiones: se encontró una muy elevada concordancia para la información antropométrica declarada por los padres y la medida de forma directa. Los resultados indican que las medidas antropométricas referidas por los padres, especialmente aquellas con los que están más familiarizados, son válidas y pueden utilizarse en la investigación epidemiológica.
- The effects of COVID-19 lockdown on the sleep quality of children(MDPI, 2023) Moreno-Galarraga, L. (Laura); Martinez-Gonzalez, M.A. (Miguel Ángel); Martin-Calvo, N. (Nerea); Lopez-Iracheta, R. (Roberto); Moreno-Villares, J.M. (José Manuel); Emilio-Bueso, Ó. (Óscar)Introduction: The COVID-19 lockdown has caused important changes in children's routines, especially in terms of nutrition, physical activity, screen time, social activity, and school time. Regarding these changes, recent studies show that the COVID-19 lockdown is associated with higher levels of anxiety and depression in children. The objective of this study was to assess changes in sleep quality in Spanish children during the lockdown decreed by the Spanish government between March and June 2020. Methodology: We compared the BEAR (bedtime, excessive daytime sleepiness, awakening during the night, and regularity and duration of sleep) scores of 478 participants (median age = 7.5 years; 48% girls) in the SENDO project during the periods before, during, and after lockdown. The questionnaires were filled out by one of the parents. We used hierarchical models with two levels of clustering to account for the intra-cluster correlation between siblings. The interaction of time with a set of a priori selected variables was assessed by introducing the interaction term into the model and calculating the likelihood ratio test. Results: The mean scores in the BEAR questionnaire referred to the periods before, during, and after lockdown were 0.52 (sd 1.25), 1.43 (sd 1.99), and 1.07 (sd 1.55), respectively. These findings indicate a deterioration in sleep quality during the period of confinement. Parental level of education was found to be an effect modifier (p for interaction = 0.004). Children whose parents had higher education (university graduates or higher) showed a smaller worsening than those without. Conclusion: Our study shows that the COVID-19 lockdown was associated with a significant worsening of sleep quality. Moreover, although the end of the lockdown brought about a slight improvement, mean scores on the BEAR scale remained significantly higher than before the lockdown, suggesting that the consequences for sleep quality could persist over time. This worsening was higher in children whose parents had lower educational degrees. Helping children maintain healthy sleeping habits despite the circumstances and providing early psychological support when needed is important to prevent negative psycho-physical symptoms due to lockdown that could persist over the years.
- Patient profle, management, and quality of life associated with Dravet syndrome: a cross‑sectional, multicentre study of 80 patients in Spain(Nature Research, 2023) Gil-Nagel, A. (Antonio); Sanchez-Carpintero, R. (Rocío); Villanueva, V. (Vicente)The aim of this study was to describe the profile of patients diagnosed with Dravet syndrome (DS), their clinical management, and the impact of DS on their quality of life (QoL) and family. Data of 80 patients from 11 centres in Spain was collected. Patients (47.5% female) were 12.7 (9.6) years on average (SD, standard deviation). Despite the first episode occurred when patients were a mean (SD) of 0.4 (0.2) years, DS was not diagnosed until they were 6.9 (10.1) years old. The majority (86.7%) had SCN1A gene mutations and 73.4% had seizures during the last year (mostly generalized motor seizures [47.8%]). The mean (SD) number of status epilepticus episodes was 3.6 (8.0) since diagnosis and 0.1 (0.5) in the last year. On the Health Utilities Index Mark (HUI) multi-attribute scale, the mean global score (SD) was 0.56 (0.24) in HUI2 and 0.32 (0.37) in HUI3. The impact of the disease was severe in most patients (HUI2, 81%; HUI3, 83.5%). In the Care-related QoL (CarerQol) the mean (SD) well-being score was 7.2 (2.1). Most caregivers (90%) were satisfied with their caregiving tasks, although 75% had difficulties combining these tasks with daily activities, 68.8% reported mental health problems and 61.2% physical problems.
- The Charlotte Project: Recommendations for patient-reported outcomes and clinical parameters in Dravet syndrome through a qualitative and Delphi consensus study(Frontiers, 2022) Gil-Nagel, A. (Antonio); Aras, L.M. (Luis Miguel); Mingorance, A. (Ana); Sanchez-Carpintero, R. (Rocío); Blanco, B. (Barbara); Aledo-Serrano, A. (Angel); Yaniz, M.J. (Maria Jose); Aibar, J.A. (Jose Angel); Camara, S. (Silvia); Villanueva, V. (Vicente); García-Peñas, J.J. (Juan José); Boronat, S. (Susana)Objective: The appropriate management of patients with Dravet Syndrome (DS) is challenging, given the severity of symptoms and the burden of the disease for patients and caregivers. This study aimed to identify, through a qualitative methodology and a Delphi consensus-driven process, a set of recommendations for the management of DS to guide clinicians in the assessment of the clinical condition and quality of life (QoL) of DS patients, with a special focus on patient- and caregiver-reported outcomes (PROs). Methods: This study was conducted in five phases, led by a multidisciplinary scientific committee (SC) including pediatric neurologists, epileptologists, a neuropsychologist, an epilepsy nurse, and members of DS patient advocates. In phases 1 and 2, a questionnaire related to patients’ QoL was prepared and answered by caregivers and the SC. In phase 3, the SC generated, based on these answers and on a focus group discussion, a 70-item Delphi questionnaire, covering six topic categories on a nine-point Likert scale. In phase 4, 32 panelists, from dierent Spanish institutions and with a multidisciplinary background, answered the questionnaire. Consensus was obtained and defined as strong or moderate if ≥80% and 67–79% of panelists, respectively, rated the statement with ≥7. Phase 5 consisted of the preparation of the manuscript. Results: The panelists agreed on a total of 69 items (98.6%), 54 (77.14%), and 15 (21.43%) with strong and moderate consensus, respectively. Frontiers in Neurology 01 frontiersin.or Aledo-Serrano et al. 10.3389/fneur.2022.975034 The experts’ recommendations included the need for frequent assessment of patient and caregivers QoL parameters. The experts agreed that QoL should be assessed through specific questionnaires covering dierent domains. Likewise, the results showed consensus regarding the regular evaluation of several clinical parameters related to neurodevelopment, attention, behavior, other comorbidities, and sudden unexpected death in epilepsy (SUDEP). A consensus was also reached on the instruments, specific parameters, and caregivers’ education in the routine clinical management of patients with DS. Conclusions: This consensus resulted in a set of recommendations for the assessment of clinical and QoL parameters, including PROs, related to the general evaluation of QoL, neurodevelopment, attention, behavior, other comorbidities aecting QoL, SUDEP, and QoL of caregivers/relatives and patients with DS