Results 51 to 60 of about 1,273 (212)

Socially oriented attention in young children with neurofibromatosis type 1: An eye‐tracking study

Developmental Medicine &Child Neurology, Volume 68, Issue 4, Page 541-548, April 2026.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70050 Abstract Aim To examine visual engagement to social stimuli and response to joint attention in young children with neurofibromatosis type 1 (NF1) and typically developing peers (controls). Method Forty‐five preschool children were studied cross‐sectionally (mean age [SD] = 4 
Kristina M. Haebich, Darren R. Hocking, Hayley Darke, Rachel Mackenzie, Kathryn N. North, Giacomo Vivanti, Jonathan M. Payne   +6 more
wiley   +1 more source

Why a diagnosis of neurofibromatosis calls for the attention of a deaf educator [PDF]

, 2016
This paper will seek to describe neurofibromatosis (NF), the scope of its impact, how NF relates to hearing loss, and why someone with a teacher of the deaf’s expertise may have information to offer the intervention team for a child diagnosed with ...
López, Lydia Marie
core   +1 more source

Interventions supporting the empowerment of parent carers of children with neurodisability and other long‐term health conditions: A scoping review

Developmental Medicine &Child Neurology, Volume 68, Issue 4, Page 489-500, April 2026.
This scoping review identified 145 different interventions designed to support parent carer empowerment. These interventions have been catalogued and are presented in an interactive, online database. Abstract Aim To compile information about interventions that have been developed to support the empowerment of parent carers of children and young people ...
Jim Reeder, Morwenna Rogers, Phillip Harniess, Fatema Shamsaddin, Caomhán McGlinchey, Jane R Smith, Sally Kendall, Christopher Morris   +7 more
wiley   +1 more source

Neurofibromatosis: analysis of clinical cases and new diagnostic criteria [PDF]

, 2022
Neurofibromatoses are a group of genetic disorders with predisposing for central and peripheral nervous system tumor development. The group includes three entities: neurofibromatosis type I, neurofibromatosis type II and schwannomatosis, which are ...
A. V. Golanov, E. S. Makashova, K. O. Karandasheva, M. A. Ginzberg, M. V. Galkin, M. Yu. Dorofeeva, S. V. Zolotova   +6 more
core   +2 more sources

Loss‐of‐Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia

Movement Disorders, Volume 41, Issue 3, Page 779-784, March 2026.
Abstract Background Hereditary spastic paraplegias (HSPs) are neurodegenerative disorders characterized by lower‐limb spasticity. Pathogenic variants in CPT1C have been implicated in HSP. Objective The objective of this study was to assess whether CPT1C loss‐of‐function (LOF) variants are causally associated with HSP.
Rui Zhu, Lang Liu, Mehrdad A. Estiar, Farnaz Asayesh, Jamil Ahmad, Meron Teferra, Grace Yoon, Mark Tarnopolsky, Kym M. Boycott, Nicolas Dupre, Patrick A. Dion, Oksana Suchowersky, Albena Jordanova, Yi‐Chung Lee, Giovanni Stevanin, Stephan Zuchner, Guy A. Rouleau, Ziv Gan‐Or   +17 more
wiley   +1 more source

Neurofibromatose Segmentar

Portuguese Journal of Pediatrics (former Acta Pediátrica Portuguesa), 2016
Portuguese Journal of Pediatrics, Vol. 47 No. 4 (2016)
Rebelo, Alícia, Costeira, Mónica, Dias, Ângela   +2 more
openaire   +2 more sources

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. [PDF]

, 2021
PURPOSE: By incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to establish diagnostic criteria for Legius syndrome (LGSS). METHODS: We used

core   +2 more sources

Assessing Executive Functions in Children With Developmental Dyslexia: A Comprehensive Approach

Dyslexia, Volume 32, Issue 1, February 2026.
ABSTRACT Developmental dyslexia (DD) is frequently associated with executive function (EF) deficits, particularly in inhibition, working memory and cognitive flexibility. This study assessed EF in 40 children with DD, aged 7–16, using both performance‐based tests and rating measures, and examined the role of co‐occurring attention deficit hyperactivity
Amanda Guerra, Julie Remaud, Olivier Cadeau, Valérie Charbonnier, Marie‐Charlotte Dubrey, Julie Proteau, Morgane Daheron, Martine Le Roch, Jean‐Luc Roulin, Nathalie Fournet, Didier Le Gall, Arnaud Roy   +11 more
wiley   +1 more source

Une tumeur maligne des gaines des nerfs périphériques compliquant la maladie de Von Recklinghausen

The Pan African Medical Journal, 2015
Les tumeurs malignes des gaines des nerfs périphériques ou MPNST (Malign Peripheral Nerve Sheath Tumors selon les anglo-saxons) sont des tumeurs rares qui constituent la principale complication des neurofibromatoses de type 1 (NF1) à l'âge adulte.
Tilila Hajjad, Samir El Mazouz, Noureddine Gharib, Abdellah El Abbassi   +3 more
doaj   +1 more source

Multidisciplinary Outpatient Clinic of Neurocutaneous Diseases: Five-year Experience of a Pediatric Tertiary Hospital in Portugal

Acta Médica Portuguesa, 2023
Introduction: Neurocutaneous syndromes (NCS) are a heterogeneous group of conditions with multiorgan involvement and diverse manifestations, evolving throughout life with significant morbidity.
Mafalda Rebelo, Telma Francisco, Rosário Perry da Câmara, Andreia Pereira, Amets Iraneta, Marta Amorim, Maria João Paiva Lopes, Rita Lopes da Silva, Ana Isabel Cordeiro   +8 more
doaj   +1 more source