Results 111 to 120 of about 43,285 (257)

White–Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects

open access: yesClinical Genetics, EarlyView.
New insights into White–Sutton syndrome with a collection of 19 Italian patients. Due to its complexity, we stress the importance of a systematic evaluation following the diagnosis and a thoughtful management of patients. Preliminary genotype–phenotype correlation analysis suggests the association between disruptive splicing variants and more severe ...
Anna Facchini   +14 more
wiley   +1 more source

Cognitive and Behavioural Associations of Visual and Hearing Impairments Across the Lifespan in People With Down Syndrome, a Scoping Review

open access: yesJournal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Hearing and visual impairments are common in individuals with Down syndrome (DS), yet it remains unclear whether sensory impairments are associated with cognitive and behavioural functioning such as language, memory and socialisation. This literature review examines those associations.
Nicolo J. Betoni   +3 more
wiley   +1 more source

Strabismus Surgery for Psychosocial Reasons—A Literature Review

open access: yesBritish and Irish Orthoptic Journal
Introduction: Strabismus surgery may be undertaken for visual benefit, to improve or eliminate diplopia symptoms, or to restore or improve binocular single vision (BSV).
Gemma Arblaster   +3 more
doaj   +1 more source

Gaucher disease, state of the art and perspectives

open access: yesJournal of Internal Medicine, EarlyView.
Abstract Knowledge about Gaucher disease (GD), considered a model for rare diseases, has considerably increased since its discovery. The pathophysiology of this lysosomal disorder is better known, and specific therapies that can control many aspects of the disease have been developed, particularly for the most common form, Type 1 GD.
Fabrice Camou, Marc G. Berger
wiley   +1 more source

Accommodative behaviour and retinal defocus of children during prolonged viewing of electronic devices while wearing dual‐focus myopia control soft contact lenses

open access: yesOphthalmic and Physiological Optics, EarlyView.
Abstract Purpose Chronic hyperopic defocus from inadequate accommodation during near tasks may be associated with axial eye growth. This study examined accommodative behaviour and retinal defocus in myopic and emmetropic children after 1 h of continuous electronic device use.
Neeraj K. Singh, Pete Kollbaum
wiley   +1 more source

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