Very pleased to have our review published on Inherited Disorders of Neurodegeneration with Brain Iron Accumulation, with Audrey Soo, Prof Manju Kurian, Dr Penny Hogarth, and Prof Hayflick DN ICH : tremorjournal.org/article/10.533…

Your opinion & options matter. We need you to choose the top 10 questions that should be researched & funded. Decide in BPNA survey and share to your network: bit.ly/31GsPeA #ChildNeuroConditions #childneurology #paediatricneurology #paediatrics #neurology

Children with measles can develop encephalitis (brain inflammation). Of these some die, others have neurological disability. Mumps causes viral meningitis in children. Rubella in pregnancy is dangerous for babies. All are preventable with MMR vaccine. bbc.co.uk/news/health-60…

The pediatrician goes to therapy

Here is the data. GPs are seeing more pts quicker with less doctors despite what the media say. The inability to see your GP is an underfunded system not an underworking GP. Listen to data not spin. #TeamGP #NHS #MedTwitter

reddit.com/r/JuniorDoctor…

The James Webb Telescope's snippet of Stephan's Quintet has five galaxies that appear to almost touch. The image gives a clearer view of the tails and loops of gas and stars in the four distant galaxies and bright emissions of X-rays from diffuse hot gas. nyti.ms/3Ix7dSW

Really pleased to share this paper showing 3 variants in a complex neurodevelopmental disorder. Great collaborative work with very inspiring scientists! Robert Spaull @ProfRJHarvey …mentdisorders.onlinelibrary.wiley.com/doi/10.1002/md…

Very pleased to publish this letter about one of our patients who has movement disorder w/o epilepsy, we think due to a stop-loss variant in STXBP1. Get in touch, especially if you have other stop-losses, to help us re-classify the VUS! doi.org/10.1002/mdc3.1…

Expanding the Spectrum of Early Neuroradiologic Findings in β Propeller Protein-Associated Neurodegeneration ajnr.org/content/early/… - Great research paper by Great Ormond Street Neuroradiology, orchestrated by Sniya Sudhakar Apostolos Papandreou Audrey Soo Robert Spaull UCL Great Ormond Street Institute of Child Health. AJNR

For those who don't fully understand what is up with the NHS, here is a thread for you that might help. I'm a consultant physician working as a doctor in the NHS in Yorkshire and Wales for 32 years now. I have experienced the NHS at its best (2008) and its worst (2022).

Really happy to share this! Novel variant found in DRD1, encoding the Dopamine Receptor 1, involved in infantile Parkinsonism Dystonia. Lovely to work with inspiring and caring scientists and clinicians mdpi.com/2073-4409/12/7…

1/29 We need to talk about these graphs 👇 We have nurses & junior doctors on strike & consultants potentially joining them very soon. Lets talk about inflation & pay. How to fix this car crash (& perhaps more importantly, how NOT to). Please read full 🧵 to end and share / RT

Dr amy mctague at UCL Great Ormond Street Institute of Child Health has been awarded an Endeavour Project Grant to explore why seizures occur in early-life epilepsies in order to potentially identify new targeted treatments: epilepsyresearch.org.uk/research_portf… #NationalEpilepsyWeek #ERUKResearchAwards

This rash is not a tattoo but caused by a rare phenomenon. What’s the diagnosis?

A thread about one of the many public sector scandals going under the radar.... The DfE "safety valves" for special educational needs. These were started in 2021 due to councils getting into deficit on school spending because demand for special needs support has risen so much.

Gene therapy has such potential to help children and families with rare diseases

This is an absolute tour de force. (Other views are available…..)