Mental Retardation
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  • ||||||||||  Journal:  GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability. (Pubmed Central) -  Feb 14, 2020   
    The role of GPR126 in radial sorting and myelination in Schwann cells suggests a mechanism of pathogenesis for ID. Involvement of GPR126 in lethal congenital contracture syndrome 9 has been identified previously, but this is the first report of a plausible candidate gene, GPR126, in ID.
  • ||||||||||  Review, Journal:  New insights on synaptic dysfunction in neuropsychiatric disorders. (Pubmed Central) -  Feb 14, 2020   
    Interestingly, the reversion of important pathologic features, including spine abnormalities, has been observed in adult animal models of neuropsychiatric disorders, suggesting that therapies may not be restricted to a specific developmental window. Shedding light on the specific mechanisms impacted in neuropsychiatric disorders will undeniably contribute to the development of more directed and personalized therapies.
  • ||||||||||  Clinical, Journal:  The effect of positive parenting program on mental health in mothers of children with intellectual disability. (Pubmed Central) -  Feb 14, 2020   
    The results of this study indicated that Triple-P had significant effect on the somatic symptoms, anxiety, depression, social dysfunction, and mental health of mothers of children with ID. As a result, this research emphasized that parenting skills training will improve the mental health of mothers of children with ID, and therefore, planning for Triple-P training is of particular importance.
  • ||||||||||  lacosamide / Generic mfg.
    Clinical, Journal:  Lacosamide in patients with intellectual disability and refractory epilepsy. (Pubmed Central) -  Feb 14, 2020   
    Adjunctive LCM may provide an antiepileptic treatment option for patients with ID with or without additional psychiatric diagnosis. The occurrence of AEs and the LCM retention rate were affected by concomitant SCB use but not by psychiatric comorbidity.
  • ||||||||||  Preclinical, Journal:  Glucagon-like peptide-1 cleavage product improves cognitive function in a mouse model of Down syndrome. (Pubmed Central) -  Feb 14, 2020   
    Consistently, GLP-1 (9-36) treatment in DS model mice led to decreased levels of mitochondrial reactive oxygen species (ROS) and improved dendritic spine morphology. Our findings indicate that GLP-1 (9-36) may have therapeutic potential to improve memory and cognition in DS and other neurodegenerative diseases associated with increased neuronal oxidative stress.
  • ||||||||||  Clinical, Journal:  Add-on HD-tDCS for obsessive-compulsive disorder with comorbid bipolar affective disorder: A case series. (Pubmed Central) -  Feb 14, 2020   
    We found that the patients showed significant improvement (more than 25%) in their OC symptoms while having no affective side effects and this effect was replicated in one of the two patients in repeating the treatment for relapse. This case series highlights the efficacy and durability of the effect of HD-tDCS as an add-on treatment modality in three patients who were treated for OC symptoms in the context of a comorbid bipolar disorder, two of them receiving repeat courses on relapse.
  • ||||||||||  Clinical, Journal:  Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders. (Pubmed Central) -  Feb 14, 2020   
    Although most of the patients possessed de novo variants, one of the patients showed an X-linked inheritance pattern. As X-linked recessive disorders exhibit the possibility of recurrent occurrence in the family, comprehensive molecular diagnosis is important for genetic counseling.
  • ||||||||||  Journal:  Social worker perception of grandparent involvement where a parent has an intellectual disability. (Pubmed Central) -  Feb 14, 2020   
    Professionals should be aware that grandparent involvement can either support or undermine the parenting function of parents with ID. Social service professionals need to promote family involvement that empowers parents with ID by supporting their needs and roles, but without supplanting their primary parenting activities.
  • ||||||||||  Clinical, Journal:  Mutation spectrum of MMACHC in Chinese pediatric patients with cobalamin C disease: A case series and literature review. (Pubmed Central) -  Feb 14, 2020   
    The c.271dupA mutation and c.331C > T mutation were mainly associated with early-onset cblC in children less than 1 year old, whilst the c.394C > T mutation was mainly associated with late-onset cblC patients characterised by isolated acute nervous system abnormalities. We also analysed the cause behind the different mutation spectrum of MMACHC gene between the Chinese and Caucasian populations.
  • ||||||||||  Journal:  A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset. (Pubmed Central) -  Feb 14, 2020   
    Our observation not only emphasizes the central role of mGluR1-mediated signaling in cerebellar function and neurodevelopment but also provides valuable insights into the early clinical signs of recessive ataxia due to GRM1 pathogenic variants that were not reported previously. The difficulties of clinical differential diagnosis between this disease and other forms of congenital ataxia and the unspecific cerebellar atrophy on MRI highlight the importance of large-scale genetic investigations.
  • ||||||||||  Clinical, Journal:  Becoming a young adult with cerebral palsy. (Pubmed Central) -  Feb 14, 2020   
    Consequently, the current study reports the first case of mutation in ELMOD1 in human subjects and demonstrates the significant difference in the phenotypes associated with ELMOD1 mutations in humans and mice. Knowledge about the functioning profile of young adults with cerebral palsy can support health services in the provision of developmentally appropriate care.
  • ||||||||||  Clinical, Journal:  'Cautiously optimistic': Older parent-carers of adults with intellectual disabilities - Responses to the Care Act 2014. (Pubmed Central) -  Feb 14, 2020   
    Findings include some awareness of the legislation and some feelings of optimism about its likely implications, although participants appeared less clear about the specificities and the impact of these upon them and/or their sons or daughters. Findings from the semi-structured interviews also showed parent's articulation of the extent of reciprocal care manifest between them and their son or daughter with an intellectual disability, as well as an awareness of the fragility of their own emotional well-being.
  • ||||||||||  methylphenidate tablet / Generic mfg., aripiprazole / Generic mfg., risperidone / Generic mfg., Egis
    Journal:  Pharmacological interventions for intellectual disability and autism (Pubmed Central) -  Feb 14, 2020   
    Novel therapeutic agents showed mixed results and quality of evidence is low; some of these agents aim at biologically targeted pharmacotherapy, which may lead to successful individualized treatment options in the future. To this day, clinicians should use pharmacotherapy with caution, carefully weighing risks and benefits, and as a part of a comprehensive personalized approach.
  • ||||||||||  Journal:  Genomics of Autism. (Pubmed Central) -  Feb 13, 2020   
    In fact, there are now >1000 genes that have been linked to ASD through genetic studies of more than 10,000 patients and their families. This chapter discusses these discoveries and in the context of recent developments in genomics and bioinformatics, while also examining the trajectory of gene discovery efforts over the past few decades, as both better ascertainment and global attention have been given to this highly vulnerable patient population.
  • ||||||||||  Clinical, Journal:  A Case Study of a Peer Respite's Integration into a Public Mental Health System. (Pubmed Central) -  Feb 13, 2020   
    Peer staff indicated that such differences contributed, in part, to the program's gradual acceptance of the service delivery model promoted by the county, and the program's integration enabled its continued support via public funds. This paper concludes with policy recommendations to transform public mental health systems in collaboration with peer staff.
  • ||||||||||  Journal:  Links between self-injury and suicidality in autism. (Pubmed Central) -  Feb 13, 2020   
    This is consistent with the theoretical perspective that self-injury can be a "gateway" through which individuals acquire capability for lethal suicidal behaviors. The data highlight that particular methods (cutting) and reasons for self-injury may be of significant concern, but this information, which might be of extreme value for clinicians, requires further investigation and validation.
  • ||||||||||  Clinical, Journal:  Two cases of 16q12.1q21 deletions and refinement of the critical region. (Pubmed Central) -  Feb 13, 2020   
    A minimal region of overlap spanning 1.7 Mb on chromosome 16, including IRX5, GNAO1, and NUDT21 genes was shared among these two cases and those previously reported. This minimal region of overlap suggests the potential pathogenic role of these genes, previously implicated in diseases of the central nervous system.
  • ||||||||||  Investigation of heterogeneous nuclear ribonucleoprotein K mRNA and its interactions with the fragile X mental retardation protein (Exhibit Hall A, Pennsylvania Convention Center) -  Feb 13, 2020 - Abstract #ACSSp2020ACS_Sp_6428;    
    Using various biophysical techniques, such as NMR spectroscopy, CD spectroscopy, and UV thermal denaturation experiments, we have characterized a G-quadruplex structure within hnRNP K mRNA. Furthermore, we have demonstrated through electrophoretic mobility shift assays that this G-quadruplex structure is recognized by the RGG box of FMRP, implicating a potential molecular pathway which could be targeted for therapeutic intervention in diseases related to the translational downregulation of hnRNP K.
  • ||||||||||  Enrollment change, Trial completion date, Trial withdrawal:  The Western Norway Mental Health Interface Study on Referral Letters (clinicaltrials.gov) -  Feb 13, 2020   
    P=N/A,  N=0, Withdrawn, 
    However, this association varies with the level of PA.Video Summary:http://links.lww.com/MENO/A520. N=100 --> 0 | Trial completion date: Dec 2017 --> Dec 2019 | Active, not recruiting --> Withdrawn
  • ||||||||||  The role of rehabilitation in case of a Koolen-de Vries syndrome () -  Feb 11, 2020 - Abstract #ISPRM2020ISPRM_1751;    
    The family support plays a key role in a multidisciplinary team work, we could conduct a supervised series of rehabilitation procedures, where each was a deliberately “milestone” in her fruitful evolution. Conclusions : Our study highlights the importance of a long term, individualized rehabilitation treatment in a relative rare, novel and underdiagnosed genetic disorder.
  • ||||||||||  Gait Disturbance In An Adopted Child Reveals an Undiagnosed 16p12.2 Microdeletion () -  Feb 11, 2020 - Abstract #ISPRM2020ISPRM_988;    
    A delay in reaching motor milestones is one possible feature of the abnormality and these children may be referred to physiatry for evaluation and treatment for impaired gait. This case hopes to bring awareness of the abnormality and the role of the physiatrist in the management of this condition.
  • ||||||||||  acetazolamide / Generic mfg.
    Familial Hemiplegic Migraine with Concurrent Meningioma: A Case Report () -  Feb 11, 2020 - Abstract #ISPRM2020ISPRM_947;    
    Preventative treatment with sodium valproate, lamotrigine, verapamil or acetazolamide may be indicated in patients with frequent attacks...A throughout history can prompt quicker diagnosis and treatment, thus improving morbidity and mortality. Conversely, HM should be kept in the differential of patients who present with persistent attacks of motor weakness and a negative neurological workup.
  • ||||||||||  Dysport (abobotulinumtoxinA) / Ipsen
    Abobotulinum toxin A (Dysport®) in salivary glands: A case series Report () -  Feb 11, 2020 - Abstract #ISPRM2020ISPRM_420;    
    Conclusions : Abobotulinum toxin A injection showed efficacy in drooling treatment in 78.57% of the patients. Mild dysphagia was observed in 21% of individuals without experiencing life threatening conditions.
  • ||||||||||  Updates in Pediatric Rehabilitation: Pain & Neuromuscular Diseases () -  Feb 11, 2020 - Abstract #ISPRM2020ISPRM_123;    
    Learn about the sports competition programs and health initiatives offered by Special Olympics International (SOI), and clinical considerations for youth athletes with ID. Get practice updates in various aspects of pediatric clinical care, including pediatric pain, spinal muscular atrophy, Duchenne muscular dystrophy and vocational skills assessment for persons with intellectual disabilities.
  • ||||||||||  Trial completion, Enrollment change, Trial primary completion date:  Testing a Novel Community-based Occupational Therapy Model (clinicaltrials.gov) -  Feb 11, 2020   
    P=N/A,  N=27, Completed, 
    Get practice updates in various aspects of pediatric clinical care, including pediatric pain, spinal muscular atrophy, Duchenne muscular dystrophy and vocational skills assessment for persons with intellectual disabilities. Recruiting --> Completed | N=400 --> 27 | Trial primary completion date: Sep 2019 --> Dec 2019
  • ||||||||||  NN1213 / Novo Nordisk
    Enrollment closed:  Vocational Empowerment Photovoice (VEP) (clinicaltrials.gov) -  Feb 10, 2020   
    P=N/A,  N=147, Active, not recruiting, 
    Recruiting --> Completed | N=400 --> 27 | Trial primary completion date: Sep 2019 --> Dec 2019 Recruiting --> Active, not recruiting