Integrated analysis of human transcriptome data for Rett syndrome finds a network of involved genes.

CONCLUSION: Integrative analysis of omics data and prior knowledge databases is a powerful approach to identify links between mutation and phenotype especially in rare disease research where little data is available. PMID: 30907210 [PubMed - as supplied by publisher]
Source: The World Journal of Biological Psychiatry - Category: Psychiatry Authors: Tags: World J Biol Psychiatry Source Type: research

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In 1985, Stan Deno published a paper in Exceptional Children describing the use of brief academic measures (curriculum-based measures) to continuously monitor the academic progress of students suspected of having learning disabilities. His proposal grew ou...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Age: Adolescents Source Type: news
Conclusion and significance: This study's capabilities lens could inform professions such as occupational therapy to support families of children with disabilities from culturally diverse communities to advocate for play opportunities across settings. PMID: 31703170 [PubMed - as supplied by publisher]
Source: Scandinavian Journal of Occupational Therapy - Category: Occupational Health Tags: Scand J Occup Ther Source Type: research
ConclusionParenting approaches can shift as a result of youth attending RILS programs. These shifts can create complex and challenging implications for parents as they seek to further encourage youths' development. This study offers an understanding of the implications of parenting during youths’ developmental transition of adolescence to adulthood, and offers recommendations to further support parents in sustaining youth development of life skills during this developmental transition.
Source: Journal of Adolescence - Category: Child Development Source Type: research
M. Spiegel Mental illness, deemed globally to account for 32% of years lived with a disability, generates significant impacts on workplaces. In particular, healthcare workers experience high rates of mental ill health such as burnout, stress, and depression due to workplace conditions including excessive workloads, workplace violence and bullying, which also produces negative effects on patients as well as on the happiness and wellbeing of those who remain at work. This review was undertaken to synthesize the evidence on workplace-based interventions at the organizational level promoting mental health and wellbeing am...
Source: International Journal of Environmental Research and Public Health - Category: Environmental Health Authors: Tags: Review Source Type: research
DiscussionControlled trials are needed to determine the best rehabilitation approach for mTBI with persistent symptoms such as neck pain, headache and dizziness. This RCT will be crucial to guide future clinical management recommendations.Trial Identifier -NCT03677661, Registered on September, 15th 2018.
Source: BMC Sports Science, Medicine and Rehabilitation - Category: Sports Medicine Source Type: research
CONCLUSION: Dietary CQ10-supplementation was associated with demonstrable benefits in CPZ-induced Parkinsonism-like changes in mice. PMID: 31702498 [PubMed - as supplied by publisher]
Source: Current Aging Science - Category: Geriatrics Tags: Curr Aging Sci Source Type: research
Conclusion: This study identified the important mediators of autonomic dysfunction and sudden death in patients with RTT. We proposed brainstem mechanisms and emphasized risk factors that increase brainstem vulnerability. We discussed clinical management to reduce sudden death and future directions for this vulnerable population. PMID: 31702122 [PubMed - as supplied by publisher]
Source: Journal of Psychiatry and Neuroscience - Category: Psychiatry Tags: J Psychiatry Neurosci Source Type: research
Rett syndrome (RTT) is a rare disease but still one of the most abundant causes for intellectual disability in females. Typical symptoms are onset at month 6 –18 after normal pre- and postnatal development, los...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Source Type: research
In this study we demonstrate a  workflow for the analysis of transcriptomics data to identify biological pathways and processes which are changed in aMecp2-/y mouse model.
Source: Wiener Medizinische Wochenschrift - Category: Journals (General) Source Type: research
Until she was 18 months old, Maria Ferre was a healthy baby. Suddenly, she was struck with Rett syndrome, a physically debilitating condition that affects approximately 1 in 15,000 female children worldwide. Symptoms of Rett syndrome include loss of speech and motor control. In Maria’s case, it resulted in extreme disability. Faced with the powerlessness that accompanies fighting a condition without a cure and without widespread public attention, her father, Josele, turned to his passion to help raise awareness. He started running marathons with his daughter, pushing her in a stroller, while the wind caressed her fac...
Source: Healthy Living - The Huffington Post - Category: Consumer Health News Source Type: news
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