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INTRODUCTION: Parent-mediated interventions are therapeutic approaches that use parent training to enable parents to provide primary support and intervention to their child through the development of necessary skills, knowledge, and resources.Parent-mediated interventions can be broadly divided into two stages: (1) Clinicians educating, training and coaching parents in the implementation of an intervention and relevant information regarding their child's condition and (2) Parent(s) mediating and implementing the intervention based on the coaching and education received. These interventions can act as the primary intervention for children or supplement clinical interventions. This review will include both stages of the implementation process as well as both primary and supplementary interventions. Outcomes of parent-mediated interventions include long-term symptom reduction, improved prognosis for a wide range of behavioural and brain functions and enhanced parent-child dyadic social communication. METHODS AND ANALYSIS: This systematic review aims to synthesise existing evidence and identify the characteristics of effective parent-mediated intervention for parents of children with neurodevelopmental disorders residing in rural areas. Systematic searches of CINAHL, PsycINFO, ProQuest allied health and nursing database, Ebscohost Psych and Behavioural database and SocINDEX were conducted twice with the latest completed on 5 March 2024 using preidentified search terms. Citations will be imported into EndNote V.20.6 (Clarivate Analytics, Pennsylvania, USA) to organise and de-duplicate and then Covidence to complete screening and extraction. The articles will be screened and reviewed following the Joanna Briggs Institute (JBI) guidelines for systematic reviews of Mixed methods. The JBI appraisal tools for systematic reviews will be used to assess the trustworthiness, relevance and results of qualitative, quantitative and mixed-methods studies. The scope of the literature analysed will include articles published between 2013 and 2024 in English. Literature was limited to the last 10 years to ensure the relevance of results as the intention is to report on current evidence. The start date of the study was March 2023 and the planned completion date is October 2024. ETHICS AND DISSEMINATION: This study will neither involve human nor animal subjects and does not require ethics approval. Results will be disseminated to relevant groups in peer-reviewed journal(s) and at relevant children and parent health conferences or rural conferences. The key outcomes will also be shared on social media to support access for non-research audiences.
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Trastornos del Neurodesarrollo , Padres , Población Rural , Niño , Humanos , Trastornos del Neurodesarrollo/terapia , Relaciones Padres-Hijo , Padres/psicología , Proyectos de Investigación , Revisiones Sistemáticas como AsuntoRESUMEN
BACKGROUND: Neurodevelopmental disorders (NDDs) such as autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), and Down syndrome (DS) significantly impact social, communicative, and behavioral functioning. Transcranial photobiomodulation (t-PBM) with near-infrared light is a promising non-invasive neurostimulation technique for neuropsychiatric disorders, including NDDs. This narrative review aimed to examine the preclinical and clinical evidence of photobiomodulation (PBM) in treating NDDs. METHODS: A comprehensive search across six databases was conducted, using a combination of MeSH terms and title/abstract keywords: "photobiomodulation", "PBM", "neurodevelopmental disorders", "NDD", and others. Studies applying PBM to diagnosed NDD cases or animal models replicating NDDs were included. Protocols, reviews, studies published in languages other than English, and studies not evaluating clinical or cognitive outcomes were excluded. RESULTS: Nine studies were identified, including one preclinical and eight clinical studies (five on ASD, two on ADHD, and one on DS). The reviewed studies encompassed various t-PBM parameters (wavelengths: 635-905 nm) and targeted primarily frontal cortex areas. t-PBM showed efficacy in improving disruptive behavior, social communication, cognitive rigidity, sleep quality, and attention in ASD; in enhancing attention in ADHD; and in improving motor skills and verbal fluency in DS. Minimal adverse effects were reported. Proposed mechanisms involve enhanced mitochondrial function, modulated oxidative stress, and reduced neuroinflammation. CONCLUSIONS: t-PBM emerges as a promising intervention for NDDs, with potential therapeutic effects across ASD, ADHD, and DS. These findings underscore the need for further research, including larger-scale, randomized sham-controlled clinical trials with comprehensive biomarker analyses, to optimize treatment parameters and understand the underlying mechanisms associated with the effects of t-PBM.
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Terapia por Luz de Baja Intensidad , Trastornos del Neurodesarrollo , Humanos , Trastornos del Neurodesarrollo/terapia , Animales , Trastorno del Espectro Autista/terapia , Trastorno por Déficit de Atención con Hiperactividad/terapiaRESUMEN
In this Special Issue, we focus on the complex mechanisms underlying neurodevelopmental disorders (as delineated in the DSM-5), which are a group of neurological disorders that begin in childhood but significantly impact adult life [...].
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Epigénesis Genética , Trastornos del Neurodesarrollo , Humanos , Trastornos del Neurodesarrollo/genética , Trastornos del Neurodesarrollo/terapiaRESUMEN
INTRODUCTION: Parents of children with a neurodevelopmental disorder (NDD) experience more stress than parents of typically developing children. In a cocreation process with experts and parents, a low-threshold application that uses exercises based on the principles of positive psychology and mindfulness was developed. This application, called "Adappt," aims at enhancing the ability to adapt of the parents and caregivers of children with NDDs and at supporting their mental health. This protocol describes the evaluation study of the effectiveness of Adappt, its core working mechanisms and user experiences. METHOD: A pragmatic international multicenter randomized controlled trial will compare the effectiveness of Adappt with a (delayed) waitlist control condition. At least 212 parents or primary caregivers of children younger than 18 years diagnosed with or suspected of a NDD will be randomly assigned to the intervention or waitlist control condition. Participants are excluded if they have severe anxiety or depression levels or are in treatment for mental health issues. Measures will be collected online at baseline, post-intervention (1 month after baseline), and 4 and 7 months after baseline. The primary outcome is the improvement in generic sense of ability to adapt as measured with the Generic Sense of Ability to Adapt Scale (GSAAS; (Front Psychol 14:985408, 2023)) at 4-month follow-up. Secondary outcomes are mental well-being, (parental) distress, and client satisfaction with "Adappt." DISCUSSION: Results of this study will contribute to knowledge on the effectiveness of a low-threshold application for parents of children with a NDD in multiple countries. If the application is found to be effective in improving mental health, recommendations will be made for implementation in health care. TRIAL REGISTRATION: This study is registered on clinicaltrials.gov (NCT06248762) on February 8, 2024, and the Open Science Framework ( https://osf.io/5znqv ).
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Salud Mental , Atención Plena , Aplicaciones Móviles , Estudios Multicéntricos como Asunto , Trastornos del Neurodesarrollo , Padres , Ensayos Clínicos Pragmáticos como Asunto , Humanos , Atención Plena/métodos , Padres/psicología , Trastornos del Neurodesarrollo/psicología , Trastornos del Neurodesarrollo/terapia , Niño , Psicología Positiva/métodos , Adolescente , Estrés Psicológico/terapia , Estrés Psicológico/psicología , Resultado del Tratamiento , Adaptación Psicológica , Ensayos Clínicos Controlados Aleatorios como AsuntoRESUMEN
Pseudouridine (Ψ), the most abundant RNA modification, plays a role in pre-mRNA splicing, RNA stability, protein translation efficiency, and cellular responses to environmental stress. Dysregulation of pseudouridylation is linked to human diseases. This review explores recent insights into the role of RNA pseudouridylation alterations in human disorders and the therapeutic potential of Ψ. We discuss the impact of the reduction of Ψ levels in ribosomal, messenger, and transfer RNA in RNA processing, protein translation, and consequently its role in neurodevelopmental diseases and cancer. Furthermore, we review the success of N1-methyl-Ψ messenger RNA vaccines against COVID-19 and the development of RNA-guided pseudouridylation enzymes for treating genetic diseases caused by premature stop codons.
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COVID-19 , Seudouridina , Humanos , Seudouridina/metabolismo , Seudouridina/genética , COVID-19/genética , Neoplasias/genética , Neoplasias/terapia , Neoplasias/metabolismo , Neoplasias/patología , SARS-CoV-2/genética , Procesamiento Postranscripcional del ARN/genética , ARN Mensajero/genética , ARN Mensajero/metabolismo , Animales , Trastornos del Neurodesarrollo/genética , Trastornos del Neurodesarrollo/terapia , Trastornos del Neurodesarrollo/metabolismo , Trastornos del Neurodesarrollo/patología , Vacunas contra la COVID-19 , Biosíntesis de Proteínas , Empalme del ARN/genética , ARN de Transferencia/genética , ARN de Transferencia/metabolismoRESUMEN
Neonatal neurocritical care (NNCC) has emerged as an important specialty to address neurological conditions affecting newborns including a wide spectrum of brain injuries and developmental impairment. Despite the discipline's growth, variability in NNCC service delivery, patient care, and clinical training poses significant challenges and potentially adversely impacts patient outcomes. Variations in neuroprotective strategies, postnatal care, and training methodologies highlight the urgent need for a unified approach to optimize both short- and long-term neurodevelopmental outcomes for these vulnerable population. This paper presents strategic blueprints for establishing standardized NNCC clinical care and training programs focusing on collaborative effort across medical and allied health professions. By addressing these inconsistencies, the paper proposes that standardizing NNCC practices can significantly enhance the quality of care, streamline healthcare resource utilization, and improve neurodevelopmental outcome, thus paving the way for a new era of neonatal neurological care.
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Cuidados Críticos , Neonatología , Humanos , Recién Nacido , Neonatología/educación , Neonatología/normas , Cuidados Críticos/normas , Lesiones Encefálicas/terapia , Cuidado Intensivo Neonatal/normas , Neurología/educación , Neurología/normas , Trastornos del Neurodesarrollo/terapia , Trastornos del Neurodesarrollo/prevención & controlRESUMEN
Anterior and posterior drooling are prevalent comorbidities in children with neurodevelopmental disabilities. Considering the heterogeneity of the patient population and the multifactorial aetiology of drooling, an interdisciplinary and individualised treatment approach is indispensable. However, no tool for stepwise decision-making in the treatment of paediatric drooling has been developed previously. Within the Radboudumc Amalia Children's Hospital, care for children with anterior and/or posterior drooling secondary to neurodevelopmental disabilities is coordinated by a saliva control team with healthcare professionals from six disciplines. In alignment with international literature, published guidelines, and evidence gained from two decades of experience and research by our team, this paper proposes an algorithm reflecting the assessment and treatment approach applied in our clinic. First, directions are provided to decide on the necessity of saliva control treatment, taking type of drooling, the child's age, and the severity and impact of drooling into account. Second, the algorithm offers guidance on the choice between available treatment options, highlighting the importance of accounting for child characteristics and child and caregiver preferences in clinical (shared) decision-making. CONCLUSIONS: With this algorithm, we aim to emphasise the importance of repeated stepwise decision-making in the assessment and treatment of drooling in children during their childhood, encouraging healthcare professionals to apply a holistic approach. WHAT IS KNOWN: ⢠Children with anterior or posterior drooling secondary to neurodevelopmental disabilities comprise a heterogeneous group, necessitating an individualised treatment approach. ⢠No stepwise decision-making tool is available for the treatment of paediatric drooling. WHAT IS NEW: ⢠Deciding on the necessity of saliva control treatment should be a conscious process, based on type of drooling, age, and drooling severity and impact. ⢠Type of drooling, age, cognition, oral motor skills, self-awareness, posture, diagnosis, and child/caregiver preferences need to be considered to decide on the optimal treatment.
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Algoritmos , Sialorrea , Humanos , Sialorrea/terapia , Sialorrea/etiología , Niño , Grupo de Atención al Paciente , Preescolar , Países Bajos , Toma de Decisiones Clínicas/métodos , Adolescente , Trastornos del Neurodesarrollo/terapia , Trastornos del Neurodesarrollo/complicaciones , Trastornos del Neurodesarrollo/diagnóstico , Masculino , Femenino , LactanteRESUMEN
Although decades of research have shown the importance of neurobiological factors in the development of mental health problems in children and adolescents, the translation of this knowledge to use in clinical practice has proven difficult. One of the pitfalls is the false assumption that biological factors are so fundamental that they overrule all other factors and can be used as stand-alone biomarkers or tests for diagnostic purposes and treatment decisions. This assumption is false because all neurodevelopmental disorders result from complex interactions between biology and environment. Therefore, neurobiological assessments should never be used as a shortcut for diagnostic assessments that include the environment, including family, peers, and society at large. Instead, they should be integrated in the diagnostic process. This calls for empirically supported guidance on how to weigh information from neurobiological and psychosocial assessments in the diagnostic and treatment decision process.
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Biomarcadores , Humanos , Niño , Adolescente , Investigación Biomédica Traslacional , Trastornos del Neurodesarrollo/diagnóstico , Trastornos del Neurodesarrollo/terapia , Modelos BiopsicosocialesRESUMEN
Ogden syndrome, also known as NAA10-related neurodevelopmental syndrome, is a rare genetic condition associated with pathogenic variants in the NAA10 N-terminal acetylation family of proteins. The condition was initially described in 2011 and is characterized by a range of neurologic symptoms, including intellectual disability and seizures, as well as developmental delays, psychiatric symptoms, congenital heart abnormalities, hypotonia, and others. Previously published articles have described the etiology and phenotype of Ogden syndrome, mostly with retrospective analyses; herein, we report prospective data concerning its progress over time. The current study involves a total of 58 distinct participants; of these, 43 caregivers were interviewed using the Vineland-3 and answered a survey regarding therapy and other questions, 10 of whom completed the Vineland-3 but did not answer the survey, and 5 participants who answered the survey but have not yet performed the Vineland-3 due to language constraints. The average age at the time of the most recent assessment was 12.4 years, with individuals ranging in age from 11 months to 40.2 years. Using Vineland-3 scores, we show decline in cognitive function over time in individuals with Ogden syndrome (n = 53). Sub-domain analysis found the decline to be present across all modalities. In addition, we describe the nature of seizures in this condition in greater detail, as well as investigate how already-available non-pharmaceutical therapies impact individuals with NAA10-related neurodevelopmental syndrome. Additional investigation between seizure and non-seizure groups showed no significant difference in adaptive behavior outcomes. A therapy investigation showed speech therapy to be the most commonly used therapy by individuals with NAA10-related neurodevelopmental syndrome, followed by occupational and physical therapy, with more severely affected individuals receiving more types of therapy than their less-severe counterparts. Early intervention analysis was only significantly effective for speech therapy, with analyses of all other therapies being non-significant. Our study portrays the decline in cognitive function over time of individuals within our cohort, independent of seizure status, and therapies being received, and highlights the urgent need for the development of effective treatments for Ogden syndrome.
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Convulsiones , Humanos , Convulsiones/genética , Convulsiones/fisiopatología , Convulsiones/terapia , Femenino , Masculino , Niño , Preescolar , Adulto , Lactante , Adolescente , Discapacidad Intelectual/genética , Adulto Joven , Trastornos del Neurodesarrollo/genética , Trastornos del Neurodesarrollo/terapia , Acetiltransferasa E N-Terminal/genética , Acetiltransferasa A N-Terminal/genética , FenotipoRESUMEN
OBJECTIVE: We aimed to develop consensus for diagnosis/management of SCN8A-related disorders. Utilizing a modified Delphi process, a global cohort of experienced clinicians and caregivers provided input on diagnosis, phenotypes, treatment, and management of SCN8A-related disorders. METHODS: A Core Panel (13 clinicians, one researcher, six caregivers), divided into three subgroups (diagnosis/phenotypes, treatment, comorbidities/prognosis), performed a literature review and developed questions for the modified Delphi process. Twenty-eight expert clinicians, one researcher, and 13 caregivers from 16 countries participated in the subsequent three survey rounds. We defined consensus as follows: strong consensus, ≥80% fully agree; moderate consensus, ≥80% fully/partially agree, <10% disagree; and modest consensus, 67%-79% fully/partially agree, <10% disagree. RESULTS: Early diagnosis is important for long-term clinical outcomes in SCN8A-related disorders. There are five phenotypes: three with early seizure onset (severe developmental and epileptic encephalopathy [DEE], mild/moderate DEE, self-limited (familial) infantile epilepsy [SeL(F)IE]) and two with later/no seizure onset (neurodevelopmental delay with generalized epilepsy [NDDwGE], NDD without epilepsy [NDDwoE]). Caregivers represented six patients with severe DEE, five mild/moderate DEE, one NDDwGE, and one NDDwoE. Phenotypes vary by age at seizures/developmental delay onset, seizure type, electroencephalographic/magnetic resonance imaging findings, and first-line treatment. Gain of function (GOF) versus loss of function (LOF) is valuable for informing treatment. Sodium channel blockers are optimal first-line treatment for GOF, severe DEE, mild/moderate DEE, and SeL(F)IE; levetiracetam is relatively contraindicated in GOF patients. First-line treatment for NDDwGE is valproate, ethosuximide, or lamotrigine; sodium channel blockers are relatively contraindicated in LOF patients. SIGNIFICANCE: This is the first-ever global consensus for the diagnosis and treatment of SCN8A-related disorders. This consensus will reduce knowledge gaps in disease recognition and inform preferred treatment across this heterogeneous disorder. Consensus of this type allows more clinicians to provide evidence-based care and empowers SCN8A families to advocate for their children.
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Consenso , Epilepsia , Canal de Sodio Activado por Voltaje NAV1.6 , Trastornos del Neurodesarrollo , Humanos , Anticonvulsivantes/uso terapéutico , Técnica Delphi , Epilepsia/diagnóstico , Epilepsia/terapia , Epilepsia/genética , Canal de Sodio Activado por Voltaje NAV1.6/genética , Trastornos del Neurodesarrollo/diagnóstico , Trastornos del Neurodesarrollo/genética , Trastornos del Neurodesarrollo/terapia , FenotipoRESUMEN
BACKGROUND: Children with neurodevelopmental disorders (NDD) can have emotional and behavioral symptoms affecting not only the child, but the whole family. Since family members have a strong impact on each other, studies highlight the need to offer effective family interventions to strengthen the wellbeing of the family. The aim of the current study is to clarify whether there is a difference between parents` opinions regarding their child`s emotional and behavioral condition immediately after Dialogical Family Guidance (DFG) has ended and after a three and six month follow-up. METHOD: Fifty families with a child with NDD were randomized into two groups. Group 1 received DFG with an immediate starting point, and Group 2 received DFG after a three-month waiting period. Parent experiences of treatment response regarding their children`s emotional and behavioral symptoms were estimated before and after DFG using the parent version of the Strengths and Difficulties Questionnaire (SDQ-p) at baseline, and after three and six months. Additionally, comparisons between boys and girls, and the age of the child were analyzed. RESULTS: The total difficulties score between Group 1 and Group 2 showed no difference immediately after DFG, or after three months. Regarding subdomains boys had more peer problems than girls, and at baseline, children between 3 and 6 years appeared to have more conduct problems than children between 7 and 13 years. Subdomain prosocial behavior increased statistically significantly during the study period in Group 1. Other SDQ-p subdomains remained constant in both groups between baseline and three and six month follow-up. CONCLUSIONS: The result does not show any differences between parents` opinions regarding their child immediately after or three months after DFG regarding SDQ-p total difficulties scores in either group. The difference between younger and older children regarding conduct problems at baseline, and the difference between boys and girls regarding peer problems is worth paying attention to in the clinical setting. Because of the small sample, it is not possible to draw relevant conclusions regarding the intervention`s effect regarding the child`s mental health dimensions, gender, or age. Nevertheless, Dialogical family Guidance represents one intervention that can be used. TRIAL REGISTRATION: ClinicalTrials.gov NCT04892992 (retrospectively registered May 18th 2021).
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Trastornos de la Conducta Infantil , Trastornos del Neurodesarrollo , Masculino , Niño , Femenino , Humanos , Adolescente , Encuestas y Cuestionarios , Trastornos del Neurodesarrollo/terapia , Padres , Trastornos de la Conducta Infantil/psicologíaRESUMEN
PURPOSE: For children with neurodevelopmental disabilities (CWNDs), early diagnosis that leads to early intervention with regular targeted therapies is critical. In Qatar, private therapy centres that address this demand often have highly exclusive prices restricting families from availing them. This paper examines the challenges faced by families with CWNDs, as well as various financial and systemic obstacles, from the vantage point of these centres, all of which culminate in an extraordinarily high disability price tag for disability families in Qatar. METHODS: This study is based on qualitative, semi-structured, and in-depth interviews with private therapy centres and developmental paediatricians. RESULTS: Therapy centre representatives expressed common struggles in lengthy and cumbersome administration and licencing procedures, difficulty in hiring and retaining high quality staff, and expenses that need to be paid to the state. From their experience, families largely struggle with delayed diagnoses that significantly slow down intervention plans and therapies as well as staggeringly high financial costs with a dearth of funding options. CONCLUSIONS: We recommend sincere engagement, dialogue, and cooperation between multiple stakeholders; a supportive ecosystem to balance and distribute the demand that includes schools and parents; as well more efficient administrative procedures and recruitment strategies.
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Discapacidades del Desarrollo , Humanos , Niño , Qatar , Discapacidades del Desarrollo/terapia , Discapacidades del Desarrollo/economía , Niños con Discapacidad , Investigación Cualitativa , Masculino , Femenino , Padres , Preescolar , Diagnóstico Precoz , Trastornos del Neurodesarrollo/terapia , Trastornos del Neurodesarrollo/economíaRESUMEN
Individuals with a neurodevelopmental disability (NDD) face significant health care barriers, disparities in health outcomes, and high rates of foregone and adverse health care experiences. The Supporting Access for Everyone (SAFE) Initiative was developed to establish principles of health care to improve equity for youth with NDDs through an evidence-informed and consensus-derived process. With the Developmental Behavioral Pediatric Research Network, the SAFE cochairs convened a consensus panel composed of diverse professionals, caregivers, and adults with NDDs who contributed their varied expertise related to SAFE care delivery. A 2-day public forum (attended by consensus panel members) was convened where professionals, community advocates, and adults with NDDs and/or caregivers of individuals with NDDs presented research, clinical strategies, and personal experiences. After this, a 2-day consensus conference was held. Using nominal group technique, the panel derived a consensus statement (CS) on SAFE care, an NDD Health Care Bill of Rights, and Transition Considerations. Ten CSs across 5 topical domains were established: (1) training, (2) communication, (3) access and planning, (4) diversity, equity, inclusion, belonging, and anti-ableism, and (5) policy and structural change. Relevant and representative citations were added when available to support the derived statements. The final CS was approved by all consensus panel members and the Developmental Behavioral Pediatric Research Network steering committee. At the heart of this CS is an affirmation that all people are entitled to health care that is accessible, humane, and effective.
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Accesibilidad a los Servicios de Salud , Trastornos del Neurodesarrollo , Humanos , Trastornos del Neurodesarrollo/terapia , Niño , Adolescente , ConsensoRESUMEN
Deep brain stimulation (DBS) modulates local and widespread connectivity in dysfunctional networks. Positive results are observed in several patient populations; however, the precise mechanisms underlying treatment remain unknown. Translational DBS studies aim to answer these questions and provide knowledge for advancing the field. Here, we systematically review the literature on DBS studies involving models of neurological, developmental and neuropsychiatric disorders to provide a synthesis of the current scientific landscape surrounding this topic. A systematic analysis of the literature was performed following PRISMA guidelines. 407 original articles were included. Data extraction focused on study characteristics, including stimulation protocol, behavioural outcomes, and mechanisms of action. The number of articles published increased over the years, including 16 rat models and 13 mouse models of transgenic or healthy animals exposed to external factors to induce symptoms. Most studies targeted telencephalic structures with varying stimulation settings. Positive behavioural outcomes were reported in 85.8% of the included studies. In models of psychiatric and neurodevelopmental disorders, DBS-induced effects were associated with changes in monoamines and neuronal activity along the mesocorticolimbic circuit. For movement disorders, DBS improves symptoms via modulation of the striatal dopaminergic system. In dementia and epilepsy models, changes to cellular and molecular aspects of the hippocampus were shown to underlie symptom improvement. Despite limitations in translating findings from preclinical to clinical settings, rodent studies have contributed substantially to our current knowledge of the pathophysiology of disease and DBS mechanisms. Direct inhibition/excitation of neural activity, whereby DBS modulates pathological oscillatory activity within brain networks, is among the major theories of its mechanism. However, there remain fundamental questions on mechanisms, optimal targets and parameters that need to be better understood to improve this therapy and provide more individualized treatment according to the patient's predominant symptoms.
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Estimulación Encefálica Profunda , Modelos Animales de Enfermedad , Trastornos Mentales , Estimulación Encefálica Profunda/métodos , Animales , Trastornos Mentales/terapia , Ratas , Ratones , Trastornos del Neurodesarrollo/terapia , Enfermedades del Sistema Nervioso/terapia , HumanosRESUMEN
Gene-targeted therapies for genetic neurodevelopmental disorders (NDDs) are becoming a reality. The Center for Epilepsy and Neurodevelopmental Disorders (ENDD) is currently focused on the development of therapeutics for STXBP1 and SYNGAP1 disorders. Here we review the known clinical features of these disorders, highlight the biological role of STXBP1 and SYNGAP1, and discuss our current understanding of pathogenic mechanisms and therapeutic development. Finally, we provide our perspective as scientists and parents of children with NDDs, and comment on the current challenges for both clinical and basic science endeavors.