A novel MBD5 mutation in an intellectually disabled adult female patient with epilepsy: Suggestive of early onset dementia?

ConclusionThe presented patient is the second with a pathogenicMBD5 mutation in whom the course of disease is suggestive of early onset dementia starting in her fifth decade. These findings stress the importance of exome sequencing, also in elderly intellectually disabled patients, particularly in those with autism.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

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Publication date: Available online 13 December 2019Source: NeuroImage: ClinicalAuthor(s): Erik Kaestner, Akshara R. Balachandra, Naeim Bahrami, Anny Reyes, Sanam J. Lalani, Anna Christina Macari, Natalie L. Voets, Daniel L. Drane, Brianna M. Paul, Leonardo Bonilha, Carrie R. McDonaldABSTRACTObjectiveThe distributed white matter network underlying language leads to difficulties in extracting clinically meaningful summaries of neural alterations leading to language impairment. Here we determine the predictive ability of the structural connectome (SC), compared with global measures of white matter tract microstructure and cli...
Source: NeuroImage: Clinical - Category: Radiology Source Type: research
Discussion of the above theories and a description of the setting and the connection between the two is used propose a potential music therapy model for work with this population at this point during the clients’ lifespan.
Source: Arts in Psychotherapy - Category: Psychiatry & Psychology Source Type: research
In this study, 226 of 250 invited patients through special needs schools, the National Down Syndrome Society, and relevant nonprofit organizations were included. In Noor Eye Hospital, the patients underwent a complete eye examination by a general ophthalmologist and suspect cases were reexamined by a sub-specialist. Examinations included ocular alignment, conjunctiva, eyelid, lacrimal system, cornea, iris, and lens assessment.Results: Mean age of participants was 16.05 ± 4.82 years and 53.0% were male. The most common ocular abnormalities were blepharitis (81.9%, 95% CI:78.0 to 85.3), lens opacity (37...
Source: Strabismus - Category: Research Tags: Strabismus Source Type: research
DiscussionResults of the selected studies are only partially comparable or generalizable because of differences in study design. They have a risk for potential biases, although they provide (if analyzed) readily available prognostic factors, easy to apply in clinical practice. Prospective, population-based studies with EEG-defined NS are warranted in order to produce evidence-based guidance for management of preterm newborns with seizures.
Source: Seizure - Category: Neurology Source Type: research
ConclusionsThis is the largest cohort of Dravet patients from within the US to report medication response with respect to genotype. Missense variants in SCN1A were most common in the voltage sensor and pore domains. All patients were most likely to respond to the recommended medication triad compared to other antiepileptic therapies.
Source: Seizure - Category: Neurology Source Type: research
ConclusionsThese results suggest that perceived and actual ASD knowledge are theoretically distinct constructs, such that self-reported ASD knowledge cannot serve as a proxy variable for actual ASD knowledge. Furthermore, individuals with low ASD knowledge are often not aware of their own ignorance, such that it is unlikely that they will independently seek additional knowledge or training in this area.
Source: Research in Autism Spectrum Disorders - Category: Psychiatry Source Type: research
Publication date: Available online 14 December 2019Source: Progress in NeurobiologyAuthor(s): Vijaykumar Yogesh Muley, Carlos Javier López-Victorio, Jorge Tonatiuh Ayala-Sumuano, Adriana González-Gallardo, Leopoldo González-Santos, Carlos Lozano-Flores, Gregory Wray, Maribel Hernández, Alfredo Varela-EchavarríaAbstractThe mammalian and the avian telencephalon are nearly indistinguishable at early embryonic vesicle stages but differ substantially in form and function at their adult stage. We sequenced and analyzed RNA populations present in mouse and chick during the early stages of embryo...
Source: Progress in Neurobiology - Category: Neuroscience Source Type: research
CONCLUSION: Despite differences between adults with SCI and adults with CVD in several demographic and health-related measures, the overall similarity in PARs for SCI and CVD suggests potential benefits from using effective CVD interventions to address SCI. PMID: 31835014 [PubMed - in process]
Source: Public Health Reports - Category: International Medicine & Public Health Tags: Public Health Rep Source Type: research
CONCLUSIONS: The 2014 federal rescheduling of hydrocodone was associated with only minor changes in overall and potentially high-risk opioid-prescribing rates. Neither state variation in long-term prescribing nor beneficiary characteristics explained the changes in persistently high opioid-prescribing rates among adults with disabilities after the 2014 regulation. Future studies should examine patient and provider characteristics underlying the persistent high-risk prescribing patterns in this population. PMID: 31835012 [PubMed - in process]
Source: Public Health Reports - Category: International Medicine & Public Health Tags: Public Health Rep Source Type: research
ConclusionPhysical exercise can reduce global cognitive decline and lessen behavioural problems in people with MCI or dementia. Its benefits on cognitive function can be primarily attributed to its effects on working memory. Aerobic exercise at moderate intensity or above and a total training duration of> 24 hours can lead to a more pronounced effect on global cognition.
Source: Journal of Physiotherapy - Category: Physiotherapy Source Type: research
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