Health-related Quality of Life (HRQoL) is a multi-faceted construct influenced by a myriad of environmental, demographic, and individual characteristics. Our understanding of these influencers remains highly limited in neurodevelopmental conditions. Existing research in this area is sparse, highly siloed by diagnosis labels, and focused on symptoms. This review synthesized the evidence in this area using a multi-dimensional model of HRQoL and trans-diagnostically across neurodevelopmental conditions. The systematic review, conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analysis Checklist, was completed in June 2023 using Medline, PsycInfo, Embase, PubMed, and Cochrane Library. Our search revealed 78 studies that examined predictors of HRQoL in neurodevelopmental conditions. The majority of these studies focused on autism and ADHD with a paucity of literature in other conditions. Cross-diagnosis investigations were limited despite the fact that many of the examined predictors transcend diagnostic boundaries. Significant gaps were revealed in domains of biology/physiology, functioning, health perceptions, and environmental factors. Very preliminary evidence suggested potentially shared predictors of HRQoL across conditions including positive associations between HRQoL and adaptive functioning, male sex/gender, positive self-perception, physical activity, resources, and positive family context, and negative associations with diagnostic features and mental health symptoms. Studies of transdiagnostic predictors across neurodevelopmental conditions are critically needed to enable care models that address shared needs of neurodivergent individuals beyond diagnostic boundaries. Further understanding of HRQoL from the perspective of neurodivergent communities is a critical area of future work.
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http://dx.doi.org/10.1007/s10567-023-00462-3 | DOI Listing |
JCPP Adv
December 2024
Department of Child & Adolescent Psychiatry Institute of Psychiatry, Psychology & Neuroscience King's College London London UK.
Background: There is a growing expectation that neurodivergent young people, such as those with diagnoses of attention-deficit/hyperactivity disorder (ADHD) and/or autism, should play a central role in shaping research on neurodevelopmental conditions. However, currently, their involvement is typically limited to arms-length advice. To address this, the (RE-STAR) programme has co-developed a framework for deepening the involvement of neurodivergent participants in translational research.
View Article and Find Full Text PDFSleep Med
December 2024
Sleep Institute, Associação Fundo de Incentivo à Pesquisa (AFIP), São Paulo, Brazil; Departamento de Psicobiologia, Universidade Federal de São Paulo, São Paulo, Brazil. Electronic address:
Neurodevelopmental disorders pose significant clinical challenges related to atypical brain development, often manifesting as learning disabilities, developmental delays, intellectual deficits, behavioral issues, epilepsy, and sleep disturbances. Among genetic neuropsychiatric conditions, synaptopathies are notable for their impact on synaptic function, resulting in varied neuropsychiatric phenotypes. Among these, SYNGAP1-associated syndrome is characterized by intellectual disability, global developmental delay, autism, and epilepsy, primarily due to loss-of-function mutations.
View Article and Find Full Text PDFCan Assoc Radiol J
December 2024
Department of Diagnostic and Intervention Radiology, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Neurosonography (NSG) is pivotal for rapid, point-of-care neonatal brain assessment. This review elucidates the comprehensive applications of NSG in pediatric care, emphasizing its role in early diagnosis and management of pathologies affecting the pediatric head-such as scalp lesions, misshapen calvarium, ventricular distortions, and cerebrovascular abnormalities, and its specific role in conditions like hypoxic-ischaemic encephalopathy (HIE) across different neonatal gestational ages. We explore its diagnostic advantage in critical care settings, particularly for infants with stroke risk in sickle cell disease, ECMO-related complications, screening for therapeutic hypothermia, and routine neonatal intensive care unit monitoring.
View Article and Find Full Text PDFPediatr Rep
December 2024
Pediatric and Rare Diseases Clinic, Microcitemico Hospital "A. Cao", Department of Medical Sciences and Public Health, University of Cagliari, 09124 Cagliari, Italy.
Background: Houge-Janssens syndrome 1 is a condition with onset in early childhood caused by heterozygous pathogenic variants in the gene, which encodes a B56 regulatory subunit of the serine/threonine protein phosphatase 2A (PP2A). There is evidence that the PP2A-PPP2R5D complex is involved in regulating the phosphatidylinositol 3-kinase (PI3K)/AKT signalling pathway, which is crucial for several cellular processes, including the pathogenesis and progression of haemangiomas.
Case Presentation: We report the first -related neurodevelopmental disorder case from Sardinia, a child with transient hypoglycaemia, facial dysmorphisms, and multiple haemangiomas.
Diseases
December 2024
Department of Pediatrics, Dokkyo Medical University, Tochigi 321-0293, Japan.
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by mutations in the TSC1 and TSC2 genes, leading to the dysregulation of the mammalian target of rapamycin (mTOR) pathway. This dysregulation results in the development of benign tumors across multiple organ systems and poses significant neurodevelopmental challenges. The clinical manifestations of TSC vary widely and include subependymal giant cell astrocytomas (SEGAs), renal angiomyolipomas (AMLs), facial angiofibromas (FAs), and neuropsychiatric conditions such as autism spectrum disorder (ASD).
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