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Health checks for autistic adults: study protocol for a cluster randomised controlled trial.
Trials
December 2024
Population Health Sciences Institute, Newcastle University, Newcastle upon Tyne, UK.
Background: Autistic people commonly have physical and mental health conditions. They also frequently experience barriers to accessing healthcare, contributing to problems identifying and treating health conditions. These factors may lead to increased and earlier morbidity and lower average life expectancy for autistic people.
View Article and Find Full Text PDFClonazepam repurposing in patients through conventional RCT and N-of-1 trials: an experimental strategy for orphan disease development.
J Med Genet
December 2024
Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands
Background: Clinical trials for rare disorders have unique challenges due to low prevalence, patient phenotype variability and high expectations. These challenges are highlighted by our study on clonazepam in patients, a common cause of intellectual disability. Previous studies on Arid1b-haploinsufficient mice showed positive effects of clonazepam on various cognitive aspects.
View Article and Find Full Text PDFPhenotypic variability in a family with an inherited KAT6A frameshift variant.
Eur J Med Genet
December 2024
Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark; Centre for Rare Diseases, Pediatrics and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark; Department of Clinical Medicine, Aarhus University, Denmark.
KAT6A syndrome or Arboleda-Tham Syndrome (ARTHS; OMIM #616268) is a syndromic neurodevelopmental disorder mainly presenting with variable degrees of intellectual disability (ID) and developmental delay (DD), especially speech delay, hypotonia and autism spectrum disorders/behavioral problems. Multiple organ-systems including eyes, heart, gastrointestinal and neurological system can be involved. Other phenotypic features with a suggested association to KAT6A include immune dysfunction and pituitary anomalies.
View Article and Find Full Text PDFPromoting Human Rights-Based Deinstitutionalisation in Lithuania by Applying the World Health Organization's QualityRights Assessments.
Int J Qual Health Care
December 2024
Lisbon Institute of Global Mental Health, Comprehensive Health Research Centre/NOVA Medical School, National School of Public Health, NOVA University of Lisbon. Rua do Instituto Bacteriológico 5, Edifício Amarelo, 1150-190 Lisbon, Portugal.
Background: Lithuania ratified the UN Convention on the Rights of Persons with Disabilities (UNCRPD) in 2010 and started deinstitutionalisation in 2014. This reform covers segregated social care institutions where persons with mental health conditions, psychosocial and/or intellectual disabilities live. It aims to move away from institutional care and towards community-based services.
View Article and Find Full Text PDFDevelopment and longitudinal neurocognitive functioning in mucopolysaccharidosis type IIIC: a case study.
J Appl Genet
December 2024
Psychological Counselling for Rare Genetic Diseases, Institute of Psychology, Faculty of Social Science, University of Gdansk, Bażynskiego, 4, 80-309, Gdańsk, Poland.
This case study presents a comprehensive analysis of the neurocognitive, medical, and developmental functioning of a 9-year-old girl diagnosed with mucopolysaccharidosis type IIIC (MPS IIIC). Genetic testing revealed a homozygous pathogenic variant of the HGSNAT gene (c.1872C > A), typically associated with severe neurodegeneration.
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