Background: Adolescents with developmental disabilities have unmet needs in their sexual and social knowledge and skills. We conducted a sexual social group intervention in adolescents with neurogenetic syndromes, mainly with Williams and velocardiofacial syndromes and their parents.
Method: Ten adolescents with neurogenetic syndromes and 14 parents participated in a Social Sexual Group Education Program. The program was delivered in 10 biweekly sessions to the adolescents and their parents separately.
Results: The focus of psychoeducation in both groups was the adolescents' self-identification, acceptance of the developmental disability, independence, establishment of friendship and intimate relationship, sexual knowledge and sexual development, and safety skills. Change in independent activities of adolescents and in their concept of "Friend" was measured.
Conclusions: Social and sexual education programs are of the utmost importance for adolescents with neurogenetic developmental disabilities. These programs should start already before adolescence and follow the children into young adulthood.
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Alzheimers Dement
December 2024
Department of Pathology, University of Sao Paulo Medical School, São Paulo, São Paulo, Brazil.
Background: Individuals meeting neuropathological criteria for Alzheimer's disease (AD) may manifest with atypical clinical syndromes. Past work showed that the neurobiological basis for these differences is related to specific neuronal vulnerabilities for tau pathology. For instance, amnestic cases have a higher burden of neurofibrillary changes in CA1.
View Article and Find Full Text PDFAm J Med Genet A
January 2025
Department of Paediatrics and Child Health, University of Cape Town, Cape Town, South Africa.
Aicardi-Goutières syndrome (AGS) is a rare monogenic type I interferonopathy. Janus kinase (JAK) inhibition has emerged as a potential treatment for AGS. RNU7-1 is one of the most recently discovered genes for AGS, and the clinical effects of JAK inhibition in these patients have not been reported.
View Article and Find Full Text PDFNat Commun
January 2025
Institut de Recherche en Cancérologie de Montpellier (IRCM), INSERM U1194, Univ. Montpellier, Institut régional du Cancer de Montpellier (ICM), Montpellier, France.
Pyruvate metabolism defects lead to severe neuropathies such as the Leigh syndrome (LS) but the molecular mechanisms underlying neuronal cell death remain poorly understood. Here, we unravel a connection between pyruvate metabolism and the regulation of the epitranscriptome that plays an essential role during brain development. Using genetically engineered mouse model and primary neuronal cells, we identify the transcription factor E4F1 as a key coordinator of AcetylCoenzyme A (AcCoA) production by the pyruvate dehydrogenase complex (PDC) and its utilization as an essential co-factor by the Elongator complex to acetylate tRNAs at the wobble position uridine 34 (U).
View Article and Find Full Text PDFNature
January 2025
Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.
Cerebral cortex development in humans is a highly complex and orchestrated process that is under tight genetic regulation. Rare mutations that alter gene expression or function can disrupt the structure of the cerebral cortex, resulting in a range of neurological conditions. Lissencephaly ('smooth brain') spectrum disorders comprise a group of rare, genetically heterogeneous congenital brain malformations commonly associated with epilepsy and intellectual disability.
View Article and Find Full Text PDFMol Ther
December 2024
NeuroEpigenetics laboratory, Department of Cellular, Computational and Integrative Biology, University of Trento, 38123 Trento, Italy.
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