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.

Neoadjuvant Chemoradiotherapy in Locally Advanced and Locally Recurrent Colon Cancer.

Aims: While systemic management of high risk colon cancer is well addressed, advances in local management remain incremental. This study aims to identify a group of colon cancer patients where local management remains a challenge, and where intensifying local treatment with radiotherapy is potentially beneficial to minimise the risk of an R1 resection.

Materials And Methods: The patients with select cT4 locally advanced primary colon (LAPC) (n = 40) and locally recurrent colon (LRC) (n = 48) adenocarcinomas who received neoadjuvant radiotherapy from 2005 to 2020 were studied.

Clinical Actionability of Genetic Findings in Cerebral Palsy: A Systematic Review and Meta-Analysis.

Importance: Single gene variants can cause cerebral palsy (CP) phenotypes, yet the impact of genetic diagnosis on CP clinical management has not been systematically evaluated.

Objective: To evaluate how frequently genetic testing results would prompt changes in care for individuals with CP and the clinical utility of precision medicine therapies.

Data Sources: Published pathogenic or likely pathogenic variants in OMIM genes identified with exome sequencing in clinical (n = 1345) or research (n = 496) cohorts of CP were analyzed.