Speech, Language and Non-verbal Communication in CLN2 and CLN3 Batten Disease.

CLN2 and CLN3 diseases, the most common types of Batten disease (also known as neuronal ceroid lipofuscinosis), are childhood dementias associated with progressive loss of speech, language and feeding skills. Here we delineate speech, language, non-verbal communication and feeding phenotypes in 33 individuals (19 females) with a median age of 9.5 years (range 3-28 years); 16 had CLN2 and 17 CLN3 disease; 8/15 (53%) participants with CLN2 and 8/17 (47%) participants with CLN3 disease had speech and language impairments prior to genetic diagnosis.

The Effectiveness of Imagery Rescripting Interventions for Military Veterans With Nightmares and Sleep Disturbances: A Systematic Review and Meta-Analysis.

Imagery rescripting (ImRs) interventions have been found effective in improving sleep outcomes, although research has mostly focused on civilian, rather than military, samples. The aim of this review was to estimate the overall effectiveness of ImRs interventions for military veterans on primary outcomes of nightmare frequency and sleep quality. A systematic search was conducted in CINAHL, MEDLINE, PsycArticles, PsycINFO, Psychology and Behavioural Sciences Collection and the PTSDpubs database and was completed on 1 November 2021.

Perisylvian and Hippocampal Anomalies in Individuals With Pathogenic Variants.

Background And Objectives: Pathogenic variants in are associated with a spectrum of epilepsy-aphasia syndromes (EASs). Seizures as well as speech and language disorders occur frequently but vary widely in severity, both between individuals and across the life span. The link between this phenotypic spectrum and brain characteristics is unknown.

Speech and language in DDX3X-neurodevelopmental disorder: A call for early augmentative and alternative communication intervention.

Pathogenic variants in DDX3X are associated with neurodevelopmental disorders. Communication impairments are commonly reported, yet specific speech and language diagnoses have not been delineated, preventing prognostic counseling and targeted therapies. Here, we characterized speech and language in 38 female individuals, aged 1.

Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder.

Pathogenic variants in BRPF1 cause intellectual disability, ptosis and facial dysmorphism. Speech and language deficits have been identified as a manifestation of BRPF1-related disorder but have not been systematically characterized. We provide a comprehensive delineation of speech and language abilities in BRPF1-related disorder and expand the phenotype.