CDKL5 deficiency disorder: clinical features, diagnosis, and management

H Leonard, J Downs, TA Benke, L Swanson… - The Lancet …, 2022 - thelancet.com
CDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004.
Although initially considered a variant of Rett syndrome, CDD is now recognised as an …

VEP estimation of visual acuity: a systematic review

R Hamilton, M Bach, SP Heinrich, MB Hoffmann… - Documenta …, 2021 - Springer
Abstract Purpose Visual evoked potentials (VEPs) can be used to measure visual resolution
via a spatial frequency (SF) limit as an objective estimate of visual acuity. The aim of this …

Cortical visual impairments and learning disabilities

S Chokron, K Kovarski, GN Dutton - Frontiers in Human Neuroscience, 2021 - frontiersin.org
Medical advances in neonatology have improved the survival rate of premature infants, as
well as children who are born under difficult neurological conditions. As a result, the …

Advances in the evaluation and management of cortical/cerebral visual impairment in children

MY Chang, MS Borchert - Survey of ophthalmology, 2020 - Elsevier
Cortical/cerebral visual impairment (CVI) is the most frequent cause of pediatric visual
impairment in developed countries and is increasing in prevalence in developing nations …

Cerebral visual impairment‐related vision problems in primary school children: a cross‐sectional survey

C Williams, A Pease, P Warnes… - … Medicine & Child …, 2021 - Wiley Online Library
Aim To estimate how many children in mainstream primary schools have cerebral visual
impairment (CVI)‐related vision problems and to investigate whether some indicators might …

Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome

GJ Lyon, M Vedaie, T Beisheim, A Park… - European Journal of …, 2023 - nature.com
Abstract Amino-terminal (Nt-) acetylation (NTA) is a common protein modification, affecting
80% of cytosolic proteins in humans. The human essential gene, NAA10, encodes for the …

The inter-relationships between cerebral visual impairment, autism and intellectual disability

S Chokron, K Kovarski, T Zalla, GN Dutton - Neuroscience & biobehavioral …, 2020 - Elsevier
From birth, vision guides our movement, facilitates social interaction and accords recognition
and understanding of the environment. In children, vision underpins development of these …

The multidisciplinary guidelines for diagnosis and referral in cerebral visual impairment

FN Boonstra, DGM Bosch, CJA Geldof… - Frontiers in Human …, 2022 - frontiersin.org
Introduction Cerebral visual impairment (CVI) is an important cause of visual impairment in
western countries. Perinatal hypoxic-ischemic damage is the most frequent cause of CVI but …

Higher visual function deficits in children with cerebral visual impairment and good visual acuity

A Chandna, S Ghahghaei, S Foster… - Frontiers in Human …, 2021 - frontiersin.org
In clinical practice Cerebral Visual Impairment (CVI) is typically diagnosed by observation of
abnormal visually guided behaviors which indicate higher visual function deficits (HVFDs) …

Cerebral visual impairment and clinical assessment: the European perspective

E Ortibus, E Fazzi, N Dale - Seminars in pediatric neurology, 2019 - Elsevier
This paper summarizes the multidisciplinary pediatric assessment methods of 3 European
centers for identifying and assessing cerebral visual impairment in childhood. It describes a …