Results 101 to 110 of about 5,145,405 (286)

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi   +6 more
wiley   +1 more source

Early-Life Exposure to Perfluoroalkyl Substances (PFAS) and Child Language and Communication Development: A Systematic Review. [PDF]

open access: yesInt J Environ Res Public Health, 2023
Stübner C   +4 more
europepmc   +1 more source

Posterior Disconnection Syndrome in Early‐Stage Adult‐Onset Cerebral Adrenoleukodystrophy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adult‐onset cerebral adrenoleukodystrophy is potentially treatable but often difficult to recognize before advanced cerebral involvement. Herein, we describe three men with early‐stage disease who initially presented with subtle visual complaints rather than subcortical dementia. Targeted neuropsychological testing revealed higher‐order visual
Kazuto Katsuse   +13 more
wiley   +1 more source

The sensitivity to pragmatic-conceptual representations in garden path double relatives in L1 Mandarin

open access: yesLanguage and Cognition
The aim of this study is to investigate how pragmatic-conceptual representations can be integrated into theories of first language acquisition. Experiment 1, using a sentence–picture judgment task, examined how children (N = 53, aged 4–6 years) used ...
Bing Bai
doaj   +1 more source

The Price of Precision: A Critical Review of Molecular Diagnostics in Glioma, From Guidelines to Global Disparities

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Gliomas have undergone a profound redefinition over the past decade, transitioning from morphology‐based entities to biologically coherent diseases defined by molecular alterations. The 2021 WHO Classification of Tumors of the Central Nervous System and its 2022 update formalize this shift, establishing integrated diagnosis as the global ...
Maria Guarnaccia, Sebastiano Cavallaro
wiley   +1 more source

Characterization of neuropsychomotor and language development of children receiving care from groups at an extended Family Health Care Center: an interprofessional approach

open access: yesRevista CEFAC
Purpose: to characterize the language and neuropsychomotor development of children referred for speech-language-hearing and physical therapy at an Extended Family Health Care Center (NASF) in Paranaguá, Paraná, Brazil. Methods: 36 children aged 3 to 13 (
Tainá Ribas Mélo   +3 more
doaj   +1 more source

Contemporary Practice of Traditional Aboriginal Child Rearing: A Review

open access: yes, 2019
There is a dearth of literature available on traditional Aboriginal child rearing. This review paper explores Aboriginal child rearing to determine if traditional practices are still in use, how these may differ from mainstream child rearing and may have
Yvonne Bohr   +3 more
core   +1 more source

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou   +6 more
wiley   +1 more source

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