Developmental regression describes when a child loses previously established skills, such as the ability to speak words and is most recognised in neurodevelopmental conditions including Autism; Developmental Epileptic Encephalopathies, such as Landau Kleffner syndrome, and genetic conditions such as Rett syndrome and Phelan McDermid syndrome. Although studies have reported developmental regression for over 100 years, there remain significant knowledge gaps within and between conditions that feature developmental regression. The certainty of evidence from earlier work has been limited by condition-specific studies, retrospective methodology, and inconsistency in the definitions and measures used for classification. Given prior limitations in the field, there is a paucity of knowledge about neurocognitive mechanisms, trajectories and outcomes for children with developmental regression, and their families. Here we provide a comprehensive overview, synthesise key definitions, clinical measures, and aetiological clues associated with developmental regression and discuss impacts on caregiver physical and mental health to clarify challenges and highlight future directions in the field.
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http://dx.doi.org/10.1016/j.cortex.2023.09.001 | DOI Listing |
Neuropediatrics
January 2025
Department of Inborn Errors of Metabolism, Ludwig-Maximilians-University Munich, University Hospital, Munich, Germany.
Ceroid lipofuscinosis type 2 (CLN2) is caused by biallelic pathogenic variants in the TPP1 gene, encoding lysosomal tripeptidyl peptidase 1 (TPP1). The classical late-infantile phenotype has an age of onset between 2 and 4 years and is characterized by psychomotor regression, myoclonus, ataxia, blindness, and shortened life expectancy. Vision loss occurs due to retinal degeneration, usually when severe neurological symptoms are already evident.
View Article and Find Full Text PDFPLoS One
December 2024
Department of Coaching Education, Akdeniz University, Antalya, Türkiye.
Relative age effects (RAEs) refer to all consequences of chronological age-based systems. The purpose of this study was to investigate the prevalence of RAEs among Turkish racket sports players. As a nationwide analysis, the present study extends beyond the typical investigations of elite-level popular sports by examining RAEs in racket sports players from the lowest grassroots level to the top and from children to veteran athletes.
View Article and Find Full Text PDFJ Neurol
January 2025
Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland.
Background: With the approval of disease-modifying treatments for 5q-spinal muscular atrophy (SMA), there is an increasing need for biomarkers for disease course and therapeutic response monitoring. Radially sampled Averaged Magnetization Inversion Recovery Acquisitions (rAMIRA) MR-imaging enables spinal cord (SC) gray matter (GM) delineation and quantification in vivo. This study aims to assess SC GM atrophy in patients with 5q-SMA and its associations with clinical disability.
View Article and Find Full Text PDFEndocr Connect
January 2025
H Turner, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford Centre for Diabetes Endocrinology and Metabolism, Oxford, United Kingdom of Great Britain and Northern Ireland.
Introduction: Cardiovascular disease is the commonest cause of death in Turner syndrome (TS) for which, arterial hypertension has a direct influence and is a key modifiable risk factor.
Objective: To investigate the prevalence and patterns of hypertension diagnosis and management in adult patients with TS who are registered in a large international multicentre database (TS-HTN study).
Methods: Retrospective multi-centre observational study of patients aged ≥18 years, included in the I-TS (International-TS) registry (2020-2022) utilising registry and participating centre collected data.
Eur J Psychotraumatol
December 2025
Department of Gerontology, University of Haifa, Haifa, Israel.
On 13-14 April 2024, Iran launched ∼300 drones and missiles at Israel, in an unprecedented attack. As most studies examine the effects of trauma months or years later, less is known about its effects days later. To fill this gap, this study gauged the population response, five days after the attack.
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