- |||||||||| Journal: The Biology of Gangliosides. (Pubmed Central) - Nov 6, 2019
Their roles in molecular recognition and membrane protein regulation implicate gangliosides in human physiology and pathology, including infectious diseases, diabetes, cancer, and neurodegeneration. The varied structures and biosynthetic pathways of gangliosides are presented here, along with representative examples of their biological functions in health and disease.
- |||||||||| Review, Journal: A Synaptic Perspective of Fragile X Syndrome and Autism Spectrum Disorders. (Pubmed Central) - Nov 6, 2019
mRNA repression is a powerful mechanism for the regulation of synaptic structure and efficacy. We infer that there is no single pathway that explains most of the etiology and discuss new findings and the implications for future work directed at improving our understanding of the pathogenesis of FXS and related ASDs and the design of therapeutic strategies to ameliorate these disorders.
- |||||||||| Review, Journal: Neurobiological perspective of 22q11.2 deletion syndrome. (Pubmed Central) - Nov 6, 2019
A clear link remains to be established between genotype and phenotype. In this Review, we summarise preclinical and clinical studies investigating biological mechanisms in 22q11.2 deletion syndrome, with a focus on those that might provide insight into mechanisms underlying neuropsychiatric disorders in 22q11.2 deletion syndrome and in the general population.
- |||||||||| Journal: Snf2h Drives Chromatin Remodeling to Prime Upper Layer Cortical Neuron Development. (Pubmed Central) - Nov 5, 2019
Mice survive into adulthood but molecularly display reduced expression of the clustered protocadherin genes that may further contribute to altered dendritic arborization and a hyperactive behavioral phenotype. Our studies provide novel insight into the developmental function of Snf2h-dependent chromatin remodeling processes during brain development.
- |||||||||| Preclinical, Journal: Visual Behavior Impairments as an Aberrant Sensory Processing in the Mouse Model of Fragile X Syndrome. (Pubmed Central) - Nov 5, 2019
Besides, we report that color and shape are meaningful for the achievement of a cognitive test involving object recognition. Altogether, these results underline the significance of visual behavior alterations in FXS conditions and relevance of assessing visual skills in neuropsychiatric models before performing behavioral tasks, such as cognitive assessments, that involve visual discrimination.
- |||||||||| Clinical, Journal: Clinical, Demographic, and Criminal Behavior Characteristics of Patients With Intellectual Disabilities in a Canadian Forensic Program. (Pubmed Central) - Nov 5, 2019
ID patients were of younger age at index offense, with a lower level of education, and were less likely to have been married or employed, more likely to have committed a sexual offense, more likely to have a diagnosis of paraphilia, less likely to be "not criminally responsible," and more likely to be "unfit to stand trial." They were also more likely to have committed their index offenses against care professionals and be treated in a secure unit. Our findings have major implications for clinicians, clinical leaders, and policymakers about the specific needs of patients with ID presenting with forensic issues and differing needs in terms of treatment and risk management.
- |||||||||| memantine / generics
Journal: In silico identification of critical proteins associated with learning process and immune system for Down syndrome. (Pubmed Central) - Nov 3, 2019 In the previous studies, the expression levels of 77 proteins obtained from normal genotype control mice and from trisomic Ts65Dn mice have been analyzed after training in contextual fear conditioning with and without injection of the memantine drug using statistical methods and machine learning techniques...Later, deep neural network, gradient boosting tree, support vector machine and random forest classification methods are implemented to identify the accuracy. It is observed that the selected feature subsets not only yield higher accuracy classification results but also are composed of protein responses which are important for the learning and memory process and the immune system.
- |||||||||| Preclinical, Journal: Developmental exposure to polychlorinated biphenyls (PCBs) in the maternal diet causes host-microbe defects in weanling offspring mice. (Pubmed Central) - Nov 3, 2019
Furthermore, PCB exposure increased the intestinal inflammatory profile (Il6, Il1β, and Il22), and resulted in dysbiosis of the gut microbiota, including altered β-diversity, in juvenile DM mice developmentally exposed to 1 mg/kg/d PCBs when compared to WT controls. Collectively, these findings demonstrate a novel interaction between PCB exposure and the gut microbiota in a genetically susceptible host that provide novel insight into environmental risk factors for neurodevelopmental disorders.
- |||||||||| Clinical, Journal: Reported gum disease as a cardiovascular risk factor in adults with intellectual disabilities. (Pubmed Central) - Nov 2, 2019
After controlling for other risk factors, reported gum disease among adults with ID may be associated with a higher risk of CVD. However, further research that also includes clinical indices of periodontal disease and CVD for this population is needed to determine if there is a causal relationship between gum disease and CVD.
- |||||||||| Clinical, Journal, HEOR: The quality of life of children with severe developmental disabilities. (Pubmed Central) - Nov 2, 2019
Improved exchange of information and coordination of care between specialists and primary care practitioners in line with expert consensus recommendations could bring substantial benefit. Interventions to promote positive outcomes for children with SDD should target both characteristics of the individual and the environment.
- |||||||||| Clinical, Retrospective data, Journal: Substance use disorders in patients with intellectual disability admitted to psychiatric hospitalisation. (Pubmed Central) - Nov 2, 2019
Further studies evaluating the effects of clozapine in patients with intellectual disability are warranted. Substance use disorder in patients with ID and mental health disorders admitted to psychiatric hospitalisation are prevalent, which makes this issue an area of interest for future improvements in case identification, proper referring to specialised treatment resources and an increasing research focusing on specific therapeutic approaches.
- |||||||||| Clinical, Journal: Risk factors for challenging behaviour and psychopathology in adults with Down syndrome. (Pubmed Central) - Nov 2, 2019
Adults with Down syndrome should be provided increased supports for coping with negative life events and stressors. Interventions should also emphasise community engagement, such as employment, and access to psychosocial supports that teach coping and self-regulation skills when faced with stressors and negative life events.
- |||||||||| Clinical, Journal: Family impact of childhood neurodevelopmental disability: considering adaptive and maladaptive behaviour. (Pubmed Central) - Nov 2, 2019
The study findings suggest that it is not children's most impaired domains of functioning that are perceived as significantly impactful by the family. The findings highlight the importance of devoting consideration to the ways in which the functional limitations experienced by children with chronic developmental health conditions similarly impact family life and well-being, regardless of disorder designation.
- |||||||||| Clinical, Retrospective data, Journal: Ten years' experience with vagus nerve stimulation in a paediatric population (Pubmed Central) - Nov 2, 2019
Further research is recommended to examine the ability to monitor clinical change associated with specific levels of presentation and different clinical presentations/cohorts. The VNS is a valid option in refractory epilepsy, with improvements not only in terms of seizures but also regarding cognitive-behavioural aspects, this being very important for the paediatric population.
- |||||||||| Incidental Cases of NIPT-Associated Maternal Constitutional Aberrations () - Nov 1, 2019 - Abstract #AMP2019AMP_265;
Whereas there is a reported 99% sensitivity and specificity of the method for detecting common fetal aneuploidy, further derived benefit includes detection of chromosomal abnormalities in mothers of reproductive age. In all of the presented cases, there is an increased chance of an abnormal outcome and patients need to be appropriately counseled.
- |||||||||| Likely Pathogenic or Likely Benign: Analysis of Deletions of the MBD5 Gene () - Nov 1, 2019 - Abstract #AMP2019AMP_254;
As technology continues to evolve and the clinical genetics community transitions into sequenced-based analysis of smaller and smaller intragenic copy number changes, the complexities of variant interpretation will continue to grow exponentially. As a result, familial analyses will become more and more critical to the interpretation of intragenic copy number variants, especially in prenatal genetic diagnoses.
- |||||||||| Clinical, Journal: 'The dots just don't join up': Understanding the support needs of families of children on the autism spectrum. (Pubmed Central) - Oct 31, 2019
The results from both the survey and the interviews suggested that existing support (particularly from formal support services) was not meeting parents' needs, which ultimately made them feel isolated and alienated. Parents who were interviewed called for service provision that adopted a relational, family-centred approach - one that understands the specific needs of the whole family, builds a close working relationship with them and ensures that they are supported at times when the parents and families feel they need it most.
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