Background: Many children experience delayed or missed identification of an intellectual disability diagnosis, meaning that key opportunities for early educational intervention may be lost.
Methods: Semi-structured interviews were used to explore the views of teachers, parents, and clinicians (n = 22), about the use of the Child and Adolescent Intellectual Disability Screening Questionnaire (CAIDS-Q) and what could improve screening and identification of intellectual disability in schools. Thematic analysis was used to identify relevant themes.
Results: Three themes were identified: the need for, and role of, screening in the context of limited knowledge about intellectual disability; the impact of screening and subsequent identification of intellectual disability; and the context within which participants felt screening should take place in order to maximise its benefits.
Conclusions: The results confirmed the importance and benefits of timely identification of children with an intellectual disability and the positive role that screening might play in this.
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http://dx.doi.org/10.1111/jar.13175 | DOI Listing |
Elife
December 2024
Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, United States.
Background: Individuals with Down syndrome (DS), the genetic condition caused by trisomy 21 (T21), display clear signs of immune dysregulation, including high rates of autoimmunity and severe complications from infections. Although it is well established that T21 causes increased interferon responses and JAK/STAT signaling, elevated autoantibodies, global immune remodeling, and hypercytokinemia, the interplay between these processes, the clinical manifestations of DS, and potential therapeutic interventions remain ill defined.
Methods: We report a comprehensive analysis of immune dysregulation at the clinical, cellular, and molecular level in hundreds of individuals with DS, including autoantibody profiling, cytokine analysis, and deep immune mapping.
Cureus
November 2024
Department of Community Medicine, Government Mohan Kumaramangalam Medical College, Salem, IND.
Background: Headaches affect people's social, intellectual, and personal lives and are quite common worldwide, especially among young adults. Primary headaches that cause significant impairment, such as tension-type headaches (TTH) and migraines, frequently start in adolescence and early adulthood. Research on the incidence and consequences of headache problems among young people in India is scarce, especially when it comes to a variety of academic fields.
View Article and Find Full Text PDFFront Pediatr
December 2024
Department of Neurobiology, University of Alabama at Birmingham, Birmingham, AL, United States.
RHOBTB2 is a member of the Rho GTPases subfamily of signaling proteins, known tumor suppressors whose loss of function and decreased expression is associated with cancer onset. Beyond its cancer-related role, RHOBTB2 is implicated in rare neurodevelopmental disorders, specifically -related disorders, recognized in 2018 as a subtype of developmental and epileptic encephalopathies (DEE). Common symptoms of these disorders include early-onset epilepsy, severe intellectual disability, microcephaly, and movement disorders.
View Article and Find Full Text PDFAnn Endocrinol (Paris)
December 2024
GCS AURAGEN, 69003 Lyon, France.
We describe for the first time the case of a woman presenting with Tatton-Brown-Rahman syndrome (TBRS) and multiple endocrine neoplasia (MEN). She developed primary hyperparathyroidism at age 13, a pituitary cyst at age 14, adrenal tumor at age 21, and metastatic insulinoma at age 34. In addition, she showed intellectual disability, obesity, multiple lipomas, facial dysmorphia, hemihypertrophy and kyphoscoliosis.
View Article and Find Full Text PDFKorean Circ J
December 2024
Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
Background And Objectives: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a life-threatening inherited arrhythmogenic disorder. Recently, , the major CPVT-causative gene, was associated with neuropsychiatric manifestations. We aimed to analyze the clinical presentations, neuropsychiatric manifestations, and treatment outcomes of children with CPVT.
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