- |||||||||| Journal: Gonadal, Not Maternal, Acquisition of Duplicated pax6 Orthologs in Megalobrama Amblycephala. (Pubmed Central) - Jul 26, 2019
Therefore, our findings validate the duplication of pax6 in fish, confirm the classical expression patterns in the brain and eye, and, for the first time, present a new acquisition of Mapax6a and Mapax6b in gonadal germ cells in particular. Therefore, our results enrich the expression pattern and evolutionary relationship of pax6 by suggesting that duplicated Mapax6 is involved in gametogenesis in Megalobrama amblycephala.
- |||||||||| Enrollment closed, Trial completion date, Trial primary completion date: VIA Family - Family Based Early Intervention Versus Treatment as Usual (clinicaltrials.gov) - Jul 24, 2019
P=N/A, N=100, Active, not recruiting,
It is therefore important to consider the benefits and limitations of each of these model systems for studying malformations of the human neocortex in development. Enrolling by invitation --> Active, not recruiting | Trial completion date: Apr 2020 --> Sep 2020 | Trial primary completion date: Apr 2020 --> Sep 2020
- |||||||||| Journal: Mental disorders in Australian 4- to 17- year olds: Parent-reported need for help. (Pubmed Central) - Jul 24, 2019
Many children and adolescents meeting Diagnostic and Statistical Manual of Mental Disorders, 4th edition criteria for mental disorders have a completely unmet need for help, especially those with conduct disorders. Even with mild disorders, lack of clinical assessment represents an important missed opportunity for early intervention and treatment.
- |||||||||| Clinical, Journal: Heritability of the melatonin synthesis variability in autism spectrum disorders. (Pubmed Central) - Jul 24, 2019
Bivariate analyses showed high phenotypic and genetic correlations between traits of the second step of the metabolic pathway (NAS, ASMT and melatonin) indicating the contribution of shared genetic factors. A better knowledge of the heritability of the melatonin synthesis variability constitutes an important step to identify the factors that perturb this pathway in individuals with ASD.
- |||||||||| Preclinical, Journal: Nicotinamide Inhibits Ethanol-Induced Caspase-3 and PARP-1 Over-activation and Subsequent Neurodegeneration in the Developing Mouse Cerebellum. (Pubmed Central) - Jul 24, 2019
Conversely, treatment with 3-aminobenzadine, a specific PARP-1 inhibitor, was able to completely block PARP-1 activation, but not caspase-3 activation or ethanol-induced neurodegeneration in the developing cerebellum. Our results showed that nicotinamide reduces ethanol-induced neuronal cell death and inhibits both caspase-3 and PARP-1 alcohol-induced activation in the developing cerebellum, suggesting that nicotinamide might be a promising and safe neuroprotective agent for treating FASD and other neurodegenerative disorders in the developing brain that shares similar cell death pathways.
- |||||||||| Preclinical, Journal: Normal CA1 Place Fields but Discoordinated Network Discharge in a Fmr1-Null Mouse Model of Fragile X Syndrome. (Pubmed Central) - Jul 24, 2019
However, Fmr1-null discharge relationships to local field potential oscillations are abnormally weak, stereotyped, and homogeneous; also, discharge coordination within Fmr1-null place cell networks is weaker and less reliable than wild-type. Rather than disruption of single-cell neural codes, these findings point to invariant tuning of single-cell responses and inadequate discharge coordination within neural ensembles as a pathophysiological basis of cognitive inflexibility in FXS.
- |||||||||| Journal: Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1. (Pubmed Central) - Jul 24, 2019
Functional genetics in the zebrafish model showed that depletion of endogenous z-nbas in fish embryos results in defective morphogenesis of chondrogenic cranial skeletal elements. Overall, our data point to a conserved function of NBAS in skeletal morphogenesis during development, support the hypothesis of a causative role of the mutated NBAS gene in the pathogenesis of AFFND1 and extend the spectrum of phenotypes associated with defects in this gene.
- |||||||||| Journal: Morphometric analysis and neuroanatomical mapping of the zebrafish brain. (Pubmed Central) - Jul 24, 2019
We demonstrate the effectiveness of morphometric techniques in measuring changes in the relative size of neuroanatomical subdivisions in atoh7 morphant larvae and in identifying phenotypes in larvae treated with valproic acid, a chemical demonstrated to increase the risk of autism in humans. These tools enable rigorous evaluation of the effects of gene mutations and environmental exposures on neural development, providing an entry point for cellular and molecular analysis of basic developmental processes as well as neurodevelopmental and neurodegenerative disorders.
- |||||||||| leucovorin calcium / generics
Clinical, Retrospective data, Journal, Heterogeneity: Cerebral folate deficiency in adults: A heterogeneous potentially treatable condition. (Pubmed Central) - Jul 24, 2019
Screening for 16p11.2 deletions should thus be included in genetic evaluations for patients with paroxysmal kinesigenic dyskinesia. CSF 5MTHF dosage should be considered in patients with mitochondrial diseases, primary brain calcifications and unexplained complex neurological disorders especially if associated with WMA, since folinic acid supplementation in patients with sCFD is frequently efficient.
- |||||||||| NN1213 / Novo Nordisk
Enrollment open, Trial completion date, Trial primary completion date: Clinical and Social Trajectories of Children and Adolescents With Disruptive Behavior (clinicaltrials.gov) - Jul 24, 2019
P=N/A, N=500, Recruiting,
CSF 5MTHF dosage should be considered in patients with mitochondrial diseases, primary brain calcifications and unexplained complex neurological disorders especially if associated with WMA, since folinic acid supplementation in patients with sCFD is frequently efficient. Not yet recruiting --> Recruiting | Trial completion date: Sep 2020 --> May 2023 | Trial primary completion date: Feb 2019 --> Nov 2021
- |||||||||| acetazolamide / generics
Clinical, Journal: Clinical and genetic spectrum of SCN2A-associated episodic ataxia. (Pubmed Central) - Jul 24, 2019
Trial completion date: Jun 2021 --> Nov 2021 | Trial primary completion date: Jun 2021 --> Nov 2021 Our study describes the heterogeneous clinical spectrum of SCN2A-associated EA, identifies two mutational hotspots and shows positive effects of acetazolamide in about 50%.
- |||||||||| NN1213 / Novo Nordisk
Trial completion date, Trial primary completion date: TMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders (clinicaltrials.gov) - Jul 23, 2019
P=N/A, N=185, Recruiting,
Our study describes the heterogeneous clinical spectrum of SCN2A-associated EA, identifies two mutational hotspots and shows positive effects of acetazolamide in about 50%. Trial completion date: Jan 2019 --> Jul 2020 | Trial primary completion date: Jan 2019 --> Apr 2020
- |||||||||| Trial completion date, Trial primary completion date: Effects of Delta-9-THC and Iomazenil in Healthy Humans (clinicaltrials.gov) - Jul 22, 2019
P1, N=60, Active, not recruiting,
Not yet recruiting --> Recruiting Trial completion date: Jun 2019 --> Jan 2020 | Trial primary completion date: Jun 2019 --> Jan 2020
- |||||||||| Clinical, Review, Journal: Assessments and Interventions to Address Challenging Behavior in Individuals with Intellectual Disability and Autism Spectrum Disorder in Japan: A Consolidated Review. (Pubmed Central) - Jul 20, 2019
The discussion makes it apparent that, in order to improve treatment systems in Japan that are aimed at addressing challenging behavior, it is necessary to establish not only better staff training programs, but also reliable and valid assessments measuring challenging behavior that can be readily used by teachers and parents. On the basis of this discussion, it is proposed that technological advancements must be applied to psychosocial approaches in the study of problem behaviors, in order to develop assessment system using software applications and automatic measurement system of target behaviors using sensing technology.
- |||||||||| Clinical, Journal: Hemimegalencephaly with intractable epilepsy: A case report. (Pubmed Central) - Jul 19, 2019
Initial treatment with anti-epileptics was successful in controlling the seizures but later on the seizures became intractable even on polytherapy. Identification of this and similar cases of iHME can help us better understand this disorder and its associated symptoms and eventually help us develop better treatment options for it.
- |||||||||| Journal: The Drosophila Gene Sulfateless Modulates Autism-Like Behaviors. (Pubmed Central) - Jul 19, 2019
These results suggest a role for HS proteoglycan synthesis and/or modification in normal social communication, repetitive behavior, and social interaction in flies. Finally, using the DGRP to directly identify genetic effects relevant to a neuropsychiatric disorder further demonstrates the utility of the Drosophila system in the discovery of genes relevant to human disease.
- |||||||||| Journal: Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability. (Pubmed Central) - Jul 19, 2019
Of all the families with reportable variants (43%, 58/135), we observed that 55% (32/58) were in X-linked genes, but 38% (22/58) were in autosomal genes, while the remaining 7% (4/58) had multiple variants in genes with different modes on inheritance. This study highlights that in families with multiple affected males, X linkage should not be assumed, and both individuals should be considered, as different genetic etiologies are common in apparent familial cases.
- |||||||||| Clinical, Journal: Cerebral Palsy in North Indian Children: Clinico-etiological Profile and Comorbidities. (Pubmed Central) - Jul 19, 2019
Most common risk factor of CP is birth asphyxia; thus, by improving health care facilities, its incidence can be reduced. CP affects not only motor functions but also other important functions of body as well, and the more severe the motor disabilities, the more are other comorbidities and their intensity also increases with that of the intensity of brain insult.
- |||||||||| Retrospective data, Journal: Gestational age at birth and risk of intellectual disability without a common genetic cause. (Pubmed Central) - Jul 19, 2019
Birth at non-optimal gestational duration may be linked causally with greater risk of intellectual disability. The mechanisms underlying these associations need to be elucidated as they are relevant to clinical practice concerning elective delivery around term and mitigation of risk in post-term children.
- |||||||||| Clinical, Journal: Requirement of the Mowat-Wilson Syndrome Gene Zeb2 in the Differentiation and Maintenance of Non-photoreceptor Cell Types During Retinal Development. (Pubmed Central) - Jul 19, 2019
Together, our data not only suggest that Zeb2 is both necessary and sufficient for the differentiation of non-photoreceptor cell types while simultaneously inhibiting the photoreceptor cell fate by repressing transcription factor genes involved in photoreceptor specification and differentiation, but also reveal a necessity of Zeb2 in the long-term maintenance of retinal cell types. This work helps to decipher the etiology of retinal atrophy associated with Mowat-Wilson syndrome and hence will impact on clinical diagnosis and management of the patients suffering from this syndrome.
- |||||||||| Review, Journal: Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. (Pubmed Central) - Jul 19, 2019
Although recent advances in next-generation sequencing have improved molecular diagnostics, marked heterogeneity exists in clinical and molecular diagnostic approaches and care practices worldwide. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria, both for classic CdLS and non-classic CdLS phenotypes, molecular investigations, long-term management and care planning.
- |||||||||| Review, Journal: The many lives of KATs - detectors, integrators and modulators of the cellular environment. (Pubmed Central) - Jul 19, 2019
Concurrently, researchers are continuously uncovering how deregulation of KAT activity drives disease, including cancer and developmental syndromes characterized by severe intellectual disability. These novel findings are reshaping our view of KATs away from mere modulators of chromatin to detectors of the cellular environment and integrators of diverse signalling pathways with the ability to modify cellular phenotype.
- |||||||||| Trial completion: Psychiatric Disorders in Children With Psychogenic Cough (clinicaltrials.gov) - Jul 18, 2019
P=N/A, N=94, Completed,
Besides complete resolution of systemic symptoms, anti-interleukin-1 treatment may also prevent progression of neurologic findings when initiated in the early stage of the disease. Recruiting --> Completed
- |||||||||| Review, Journal: Recent Technology-Aided Programs to Support Adaptive Responses, Functional Activities, and Leisure and Communication in People With Significant Disabilities. (Pubmed Central) - Jul 18, 2019
The paper also examines the tools' accessibility and usability, and comments on possible ways of modifying and advancing them to improve their impact. The tools taken into consideration concern, among others, (a) microswitches linked to computer systems, and aimed at promoting (i.e., through positive stimulation) minimal responses or functional body movements in individuals with intellectual disabilities and motor impairments; (b) computer systems, tablets, or smartphones aimed at supporting functional activity engagement of individuals with intellectual disabilities or Alzheimer's disease; and (c) microswitches with computer-aided systems, elaborate communication devices, and specifically arranged smartphones or tablets, directed at promoting leisure, communication, or both.
- |||||||||| Journal: Editorial: Intellectual Disability and Assistive Technology. (Pubmed Central) - Jul 18, 2019
The tools taken into consideration concern, among others, (a) microswitches linked to computer systems, and aimed at promoting (i.e., through positive stimulation) minimal responses or functional body movements in individuals with intellectual disabilities and motor impairments; (b) computer systems, tablets, or smartphones aimed at supporting functional activity engagement of individuals with intellectual disabilities or Alzheimer's disease; and (c) microswitches with computer-aided systems, elaborate communication devices, and specifically arranged smartphones or tablets, directed at promoting leisure, communication, or both. No abstract available
- |||||||||| Trial completion date, Trial primary completion date: PEP: Peer Social Support During In Vivo Exposure for PTSD (clinicaltrials.gov) - Jul 17, 2019
P=N/A, N=150, Recruiting,
No abstract available Trial completion date: Dec 2019 --> Dec 2022 | Trial primary completion date: Dec 2019 --> Dec 2022
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