Updates from Developmental Medicine & Child Neurology – July 2022
Welcome to the July issue of the Mac Keith Press newsletter. This month, highlights include:
Key DMCN Paper: Niemann–Pick type C disease as proof-of-concept for intelligent biomarker panel selection in neurometabolic disorders
Key Podcast: Global South perspectives on childhood neurodevelopmental disability
Special offer: Children with Vision Impairment: Assessment, Development, and Management
Children with Vision Impairment: Assessment, Development, and Management
Naomi Dale, Alison Salt, Jenefer Sargent, and Rebecca Greenaway
Vision impairment is a long-term condition caused by disorders of the eye, optic nerve, and brain. Using evidence-based knowledge, theory, and research, this book provides practical guidance for practitioners who are involved in the care and management of children with long-term vision impairment and disability.
Children with Vision Impairment: Assessment, Development, and Management is available now.
Special offer: 10% off until August 22nd!
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Key papers this month
Niemann–Pick type C disease as proof-of-concept for intelligent biomarker panel selection in neurometabolic disorders
Despite advancements in next generation sequencing and precision medicine, neurological non-enzymatic disorders remain difficult to diagnose and lack robust biomarkers or routine functional testing for genetic variants of unknown significance. Using Niemann-Pick type C disease as a paradigm, Papandreou et al. aimed to improve biomarker discovery in patients with Niemann-Pick type C disease.
Motor function and safety after allogeneic cord blood and cord tissue-derived mesenchymal stromal cells in cerebral palsy: An open-label, randomized trial
This article evaluates safety and motor function after treatment with allogeneic umbilical cord blood or umbilical cord tissue-derived mesenchymal stromal cells in children with cerebral palsy. Sun et al. found that allogeneic umbilical cord blood is a potential cell therapy for cerebral palsy and should be further tested in a randomized, blinded, placebo-controlled trial.
Paediatric epilepsy and cognition
In this invited review, Stéphane Auvin discusses the importance of screening for cognitive impairment in children with epilepsy, to allow diagnosis and appropriate management. Underlying aetiology/syndrome, seizure recurrence, antiseizure medication, and interictal abnormalities are identified as risk factors.
Remember to check out Early View for the very latest from DMCN.
Global South perspectives on childhood neurodevelopmental disability | Mbazzi & Kawesa | DMCN
Societies & Meetings
The AACPDM are hosting their 76th annual conference on 21st-24th September 2022 in Las Vegas. The theme is “Make it Matter”. You can find out more here.
ICNA are hosting their 17th international conference on 3rd-7th October 2022 in Antalya, Turkey. You can find out more here.
The BPNA are hosting their annual conference on 25th-27th January 2023 in Edinburgh, UK. You can find out more here.
The EACD are hosting their Annual Meeting in 2023 – Ljubljana, Slovenia 24-27 May 2023. Find out more here.