Active clinical trials for "Neurodevelopmental Disorders"

Background: People show changes in brain activity when they watch other people do actions. This may be part of early social and communication skills. Researchers want to understand the stages of normal development of motor observation and imitation in people and how it relates to social development in infants and toddlers. Objective: To study the nature of brain activity that underlies typical brain functioning in infants, toddlers, and adults. Eligibility: Infants ages 9 12 months Healthy adults ages 18 65 Design: Adult participants will have one visit. They will: Answer questions about their family, like its size and ethnicity. Answer questions about their own behavior and do a simple motor task. Have EEG/fNIRS. A damp elastic cap with small sensors will be placed on the head. Participants will observe stimuli, either on a video screen or of a live person. The sensors will be connected to a computer. That will record the participant s brain activity while watching pictures on a screen. Infant participants will have 2 visits. Their parents will answer questions about their family. The parents will fill out forms about their child s development. These will be mailed to them before each visit. Parents will stay with their infant while study staff does an assessment of the child s communication, motor, and thinking skills. Infants will have EEG/fNIRS. Infants who are at risk for developmental delays will come back for another visit when they are about 2 years old. This will repeat the infant visits but it will not include EEG/fNIRS. Some questionnaires and assessments will be videotaped.

The Rett Syndrome Registry is a longitudinal observational study of individuals with MECP2 mutations and a diagnosis of Rett syndrome. Designed together with the IRSF Rett Syndrome Center of Excellence Network medical directors, this study collects data on the signs and symptoms of Rett syndrome as reported by the Rett syndrome experts and by the caregivers of individuals with Rett syndrome. This study will be used to develop consensus based guidelines for the care of your loved ones with Rett syndrome and to facilitate the development of better clinical trials and other aspects of the drug development path for Rett syndrome.

Children in primary school often suffer from lower urinary tract symptoms (LUTS), which may negatively impact their overall well-being. Co-occurring neurodevelopmental disorders (NDDs) can adversely affect children as well and can cause restrictions in their daily life, especially in their school-environment. The goal of this observational study is to identify the prevalence of LUTS in Flemish primary school children.The main questions it aims to answer are: How prevalent are LUTS in regular primary education? Is there a relation with well-being in school environment? Is there an influence of co-occuring NDDs? Children, parents and teachers will be asked to fill in questionnaires related to this research question.

Background: Small-Fiber-Neuropathy describes the degeneration of mildly or unmyelinated nerve fibers and causes neuropathic pain and autonomic dysfunction. Gold standard for the diagnosis is a small skin punch biopsy from the lower leg and the histological quantification of the intraepidermal nerve fiber density (IENFD). In children, the normal IENFD has not been systematically assessed and normal reference values are needed. In Parkinson´s disease, the neurodegeneration also affects the peripheral nerves and SFN is present already in the early stages. Whether neurodevelopmental disorders (NDDs) in childhood are likewise associated with SFN is largely unknown. The IENFD is age-dependent and declines with age. Aims: In this study, we are establishing the reference values for the physiological IENFD in children from 0-18 years. Moreover, we are investigating if children with NDDs have a reduced IENFD and if SNF is a clinically relevant cause of pain and autonomic dysfunction.

Congenital cardiopathy are frequent malformations (1/100 birth). The progress of surgery permit a survival rate at the adult age of more than 90%. The long terms consequences must be taken in account and the nerodevelopmental disorders are in first place (intelectual deficiency, autism spectrum disorders, or attention disorders) and presents in 30 to 60% of the patients (Calmant, 2015). The impact can be important on the scolarity, the studies, the professional activity and finaly on the quality of life of the patients becomming adults. The identification of the risk factors on surgery period should permit to propose the most adapted follow-up to the specifics needs of each patients. On the scientific plans, the identification of early markers on brain dammage on EEG should permit to better apprehend the physiopathologic mecanisms involved.

Background: Congenital heart disease (CHD) is the most frequent inborn defect with an incidence of 1 in 100 newborns per year, i.e. 800 children born in Switzerland per year. 10% to 15% of cases are born with single ventricle (SV), the most complex type of CHF requiring immediate surgical intervention after birth. Infants with SV CHD are treated in three surgical staged procedures over the first three years of life. However, cerebral injuries occur in around 40% of those children and impact neurocognitive abilities. As more than 90% of all infants with CHD survive to adulthood, scientific concern is focussed on patient-individual course brain growth and development within the relative contribution of fetal, perinatal, cardiac and surgical risk factors. Therefore, serial cerebral MRI examinations are needed, starting (1) at the third trimester during fetal life proceeding to (2) pre- and postoperative time points at the stage I surgery after birth and (3) before stage II surgery at 4 months of age. We will compare the cerebral MRI findings with a healthy control population, recruited at the same time points, and correlate brain growth and development with the neurodevelopmental outcome assessed at one year of age. Three Pediatric Heart Centers in Switzerland and Germany will participate. The overall aims are: To analyse the patient-individual cerebral developmental trajectories, brain growth and determine the time course of brain abnormalities in infants with single ventricle CHD by serial cerebral MRI during fetal life, after birth and at an age of 4 months (primary endpoints). To determine the neurodevelopmental outcome at one year of age using the Bayley III and will be correlated with the brain growth and brain development in the third trimester of fetal life and at the age of 4 months (secondary endpoints). To analyse fetal, neonatal, surgery-related and intensive care associated factors determining the patient-individual course for altered cerebral growth and impaired neurodevelopmental outcome at one year of age. Methodology: We will prospectively enroll fetuses and neonates with single ventricle CHD at the three Pediatric Heart Centers in Switzerland (Zurich, Bern) and Germany (Giessen). Advanced MR imaging will assess cerebral volumes, microstructural and hemodynamic changes at repeated time points during the third trimester of fetal life (32. week of gestation), the perioperative neonatal period before and after stage I surgery and before stage II surgery at 4 months of age. Biomechanical analysis of longitudinal changes of brain morphology will be applied to longitudinal fetal and neonatal MRI data. Outcome is determined with the Bayley-III at one year of age. Significance: Using a population-based sample of children with single ventricle CHD, we will be able to determine cerebral growth from the third fetal trimester until the first 4 months after birth, when the brain is most rapidly growing. By performing serial brain imaging, the knowledge of etiological pattern affecting cerebral growth, development and brain injury will increase. Morphometric and biomechanical analysis of brain growth patterns will be performed that may capture fine-grained changes associated with CHD. By correlating these data with the neurodevelopmental outcome at one year of age it will be possible to identify specific risk constellations leading to impaired brain development and categories of brain injuries that confer a higher risk of adverse outcome. The better understanding of the pathophysiological mechanisms will serve as the basis for neuroprotective studies and pharmacological trials aiming to improve outcomes in children with CHD in the future.

Despite improved survival of extremely premature infants in recent decades, neonatal intensive care unit (NICU) graduates are diagnosed with asthma, sleep disordered breathing (SDB) in childhood, and neurodevelopmental impairments (NDI) at significant rates, disproportionate to their term peers. Early detection and intervention are critical to mitigate the impact of these impairments. Mechanisms leading from premature birth to these undesirable outcomes remain unclear, and accurate prognostic measures are lacking. This study wants to learn if these problems are related to certain patterns of breathing that babies had while they were in the NICU.

The purpose of this study is to analyze patterns in individuals with hnRNP (and other) genetic variants, including their neurological comorbidities, other medical problems and any treatment. The investigators will maintain an ongoing database of medical data that is otherwise being collected for routine medical care. The investigators will also collect data prospectively in the form of questionnaires, neuropsychological assessments, motor assessments, and electroencephalography to examine the landscape of deleterious variants in these genes.

Some evidence exists that SARS-COV-2 may infect pituitary axis, and therefore may alter hypothalamic function. Whether perinatal COVID-19 is associated with alterations in the maturation of the Hypothalamic-Pituitary-Gonadal (HPG) axis, and specifically with its transient activation occurring during infancy, namely minipuberty, is a major concern. Among the various pathogenic features related to COVID-19, altered minipuberty could be a key factor underlying many multimorbidities later in life, suggesting that they could involve a common causative mechanism that occurs within this short and critical period of time following birth. Altered minipuberty together with NO deficiency seem to be key factors underlying many of these multimorbidities, suggesting that they involve a common causative mechanism that occurs within this short and critical period of time following birth

The main objective is to constitute a precise and exhaustive collection of clinical data (somatic and neurobehavioral data) of individuals affected by various frequent monogenic forms of neurodevelopmental disorders to better characterize the clinical phenotype of these disorders. A better knowledge of these manifestations is necessary to improve the management of individuals with these disorders. The secondary objectives of this research are to inform practitioners, patients and their families about the clinical characteristics of these disorders to better understand their diversity and, finally, to improve their screening and diagnosis. Thus, our study aims at establishing clinical scores, linking genotypes and phenotypes and producing documents for professionals (such as the PNDS (National Diagnostic and Care Protocols))