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Video-feedback intervention for promoting social engagement in children with neurodevelopmental disabilities.
Front Psychol
January 2025
Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
Introduction: Children with neurodevelopmental disabilities (NDs) display several developmental impairments across various domains that impact parent-child interactions, emphasizing the need for effective early interventions. This multi-centric study aimed to evaluate the impact of video-feedback intervention (VFI) on enhancing maternal behavior (i.e.
View Article and Find Full Text PDFPosterior Reversible Encephalopathy Syndrome in the Context of McCune-Albright Syndrome: A Case Report.
Cureus
December 2024
Department of Neurology, 417 Army Share Fund Hospital, Athens, GRC.
Posterior reversible encephalopathy syndrome (PRES) is a clinical manifestation of various underlying causes, characterized by the combination of clinical and imaging findings associated with the posterior cerebral areas and relating to arterial hypertension and endothelial dysfunction. No association was made so far between PRES and McCune-Albright syndrome (MAS), a rare genetic disorder resulting in fibrous dysplasia. A 33-year-old female with MAS was presented to the emergency department of the 417 Army Share Fund Hospital in Athens (Greece) after seizure activity with two episodes of ocular upward deviation and transient facial palsy, each lasting a few minutes, followed by a postictal phase.
View Article and Find Full Text PDFNature and prevalence of long-term conditions in people with intellectual disability: retrospective longitudinal population-based study.
BMJ Open
January 2025
Leicestershire Partnership NHS Trust, Leicester, UK.
Objective: Explore the nature and prevalence of long-term conditions in individuals with intellectual disability.
Design: Retrospective longitudinal population-based study.
Setting: Primary and secondary care data across the population of Wales with the Secure Anonymised Information Linkage (SAIL) Databank.
Are challenging walking environments linked to falls or risk of falling in children with cerebral palsy? A systematic review.
Gait Posture
January 2025
Research Institute for Sport and Exercise Sciences, Tom Reilly Building, Liverpool John Moores University, Byrom St, Liverpool L3 3AF, United Kingdom. Electronic address:
Background: Children with cerebral palsy (CP) regularly fall over and this has negative effects on their physical and psychosocial wellbeing (e.g., reduced activity participation).
View Article and Find Full Text PDFREVEAL-CP: Selective Screening of Pediatric Patients for Aromatic L-Amino Acid Decarboxylase Deficiency with a Guthrie Card and Structural Modeling of One Index Case.
Genet Test Mol Biomarkers
January 2025
PTC Therapeutics Germany GmbH, Frankfurt, Germany.
The main objective of this prospective, multicenter study (REVEAL-CP) was to test children with cerebral palsy-like signs and symptoms for raised 3--methyldopa (3-OMD) blood levels, a biomarker for aromatic L-amino acid decarboxylase deficiency (AADCd). A secondary objective was to characterize the molecular basis for the defective aromatic L-amino acid decarboxylase (AADC) gene product. Patients were identified in pediatric secondary and tertiary care hospitals through database searches and personal communication.
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