September 2024 - August 2025
Most recent first
December 2024
Jenny Lord, Carolina J. Oquendo, Htoo A. Wai, John G. Holloway, Alexandra Martin-Geary, Alexander JM. Blakes, Elena Arciero, Silvia Domcke, Anne-Marie Childs, Karen Low, Julia Rankin, Diana Baralle, Hilary C. Martin, Nicola Whiffin, Non-coding variants are a rare cause of recessive developmental disorders in trans with coding variants, Genetics in Medicine,2024,101249,ISSN 1098-3600,https://doi.org/10.1016/j.gim.2024.101249.
Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disordersH. Copeland, K. J. Low, S. L. Wynn, A. Ahmed, V. Arthur, M. Balasubramanian, et al.Genetics in Medicine Open DOI: 10.1016/j.gimo.2024.101864Featured on BBC Inside Health
Karen Low, BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations. Eur J Hum Genet(2024). https://doi.org/10.1038/s41431-024-01701-z
Iles-Caven Y, Golding J, Joinson C, Fraser A, Northstone K. Sexual experiences, attitudes, enjoyment and regret in the parent and offspring generations of the Avon Longitudinal Study of Parents and Childhood (ALSPAC): 2022 data sweep. [version 1; peer review: awaiting peer review]. Wellcome Open Res 2024, 9:674 (https://doi.org/10.12688/wellcomeopenres.23059.1)
Kawabata, E., Major-Smith, D., Clayton, G.L. et al.Accounting for bias due to outcome data missing not at random: comparison and illustration of two approaches to probabilistic bias analysis: a simulation study. BMC Med Res Methodol24, 278 (2024). https://doi.org/10.1186/s12874-024-02382-4
Dana Tarif, Jon Heron, Abigail Fraser, Ahmed Elhakeem, Carol Joinson. Pubertal Timing, Depressive Symptoms and Depression in Adolescent Males: a Prospective Cohort Study. Psychological Medicine, in press.
Prince Gyamenah, Kim Burrows, Dheeraj Rai, Carol Joinson. Associations of autistic traits and autism with incontinence and constipation in a UK birth cohort. Journal of Autism and Developmental Disorders, in press.
Garstang JJ, Tosyali M, Menka M, Blair PS. Incidence of sudden unexplained death in childhood for children aged 1-14 years in England and Wales during 2001-2020: an observational study. Arch Dis Child 2024 Nov 18:archdischild-2024-327840.
Guggenheim JA, Clark R, Pease A, Blair PS, Williams C; UK Biobank Eye and Vision Consortium. Estimating the True Effect of Lifestyle Risk Factors for Myopia: A Longitudinal Study of UK Children. Transl Vis Sci Technol. 2024 Nov 4;13(11):10.
Emmett PMand Taylor CM(2024) The contribution of free sugars to energy intake in mid to late childhood: comparisons between nutrients and food group intake and antecedents of diets high and low in free sugars. Nutrients 16: 4192. doi 10.3390/nu16234192
November 2024
Jackson R, Cornish R, Daskalopoulou Z, Gale C, Hurd M, Johnson S, Knight M, Kurinczuk JJ, Woodward K, Chakkarapani E; SINEPOST collaborative group. Association of antenatal or neonatal SARS-COV-2 exposure with developmental and respiratory outcomes, and healthcare usage in early childhood: a national prospective cohort study. EClinicalMedicine. 2024 May 3;72:102628. doi: 10.1016/j.eclinm.2024.102628. PMID: 38737004; PMCID: PMC11087703.
Joinson C, Drake MJ, Fraser A, Tilling K, Heron J. Bidirectional relationships between depression, anxiety and urinary symptoms in women: A prospective cohort study. J Affect Disord. 2024 Oct 10;369:516-522. doi:10.1016/j.jad.2024.10.035. Online ahead of print.
Halstead I, Heron J, Svob C, Joinson C. Prospective relationships between patterns of religious belief/non-belief and mental health in adults: A UK cohort study. Soc Sci Med. 2024 Sep 17;361:117342. doi: 10.1016/j.socscimed.2024.117342. Online ahead of print.
Purewal R, Christley R, Kordas K,Joinson C, Meints K, Gee N, Westgarth C. Companion animals and child development outcomes: longitudinal and cross-sectional analysis of a UK birth cohort study. BMC Pediatr. 2024 Sep 13;24(1):578. doi: 10.1186/s12887-024-05049-7.
Chakkarapani E, Cooling and physiology during parent cuddling infants with neonatal encephalopathy in usual care: CoolCuddle‐2 study in Acta Paediatrica has the following publication status: Published Online
Ingram J, Odd D, Beasant L, Chakkarapani E. Mental health of parents with infants in NICU receiving cooling therapy for hypoxic-ischaemic encephalopathy. Journal of Reproductive and Infant Psychology 2024; doi:10.1080/02646838.2024.2423178
Chakkarapani E, Ingram J, Stocks S, Beasant L, Odd D. Cooling and physiology during parent cuddling infants with neonatal encephalopathy in usual care: CoolCuddle-2 study. Acta Paediatrica 2024; 00:1–9. DOI: 10.1111/apa.17466
Beasant L, Chakkarapani E, Horwood J, Odd D, Stocks S, Parker D, & Ingram J.Embedding the ‘CoolCuddle’ intervention for infants undergoing therapeutic hypothermia for hypoxic-ischaemic encephalopathy in NICU: an evaluation using normalisation process theory. BMJ Open (18Oct) 2024,14 doi:10.1136/ bmjopen-2024-088228
Santosh Bhatta, Pratiksha Pathak, Anish Khadka, John Parkin, Paul Pilkington, Sunil Kumar Joshi, Julie Mytton. Injury risks for different road users in Nepal: a secondary analysis of routinely collected crash data. Global Health Research Journal 2024 https://doi.org/10.3310/DWTR9883
Banstola A, Gautam P, Smart G, Joshi SK, Mytton J. Prehospital emergency care for trauma victims in Nepal: a mixed-methods study. Global Health Res 2024. https://doi.org/10.3310/TMTG2437
Bidhya Pandey, Amrit Banstola, Gary Smart, Sunil Kumar Joshi, Julie Mytton. Barriers and facilitators to learning and using first aid skills for road traffic crash victims in Nepal: a qualitative study. Global Health Research Journal 2024. https://doi.org/10.3310/UTKW7640
October 2024
Physical activity, sedentary behaviour, and childhood asthma: a European collaborative analysis Eijkemans M, Mommers M, Harskamp-van Ginkel MW, Pike KC, et al. BMJ Open Respiratory Research 2024;11:e001630.doi:10.1136/bmjresp-2023-001630
Patient-centred composite scores as tools for assesment of response to biological therapy for paediatric and adult severe asthma. Khaleva E; Brightling C; Eiwegger T; Altraja, Pike KC et al. Accepted in ERJ
September 2024
Renz-Polster H, Blair PS, Ball HL, Jenni OG, De Bock F. Death from Failed Protection? An Evolutionary-Developmental Theory of Sudden Infant Death Syndrome. Hum Nat. 2024 Jun;35(2):153-196.
Basu AP, Low K, RatnaikeT, RowitchD. Genetic investigations in cerebral palsy. Dev Med Child Neurol. 2024; 00: 1–9. https://doi.org/10.1111/dmcn.16080
July 2024
Karen Low, Pamela Bowman1,2, Hannah Grimes3, Anthony R. Dallosso4, Ian Berry4, Stephen Mullin5, Julia Rankin1. Whole genome sequencing for copy number variant detection to improve diagnosis and management of rare diseases Whole genome sequencing for copy number variant detection to improve diagnosis and management of rare diseases. Dev Med Child Neurol. 2024;00:1–6. https://doi.org/10.1111/dmcn.15985
Joinson C, Grzeda MT, Heron J, von Gontard A. Sleep duration, sleep problems and developmental trajectories of urinary incontinence: a prospective cohort study. Eur Child Adolesc Psychiatry. 2024 Jun 3. doi: 10.1007/s00787-024-02471-1
Clout M, Turner N, Clement C, Braude P, Benger J, Gagg J, Gendall E, Holloway S, Ingram Jet al. The RELIEF feasibility trial: topical lidocaine patches in older adults with rib fractures. Emerg Med J 2024; 0:1-10. doi:10.1136/ emermed-2024-213905
Allan Bayat, Hannah Grimes, Elke de Boer, Morten Krogh Herlin, Rebekka Staal Dahl, Ida Charlotte Bay Lund, Michael Bayat, Anneli Clea Skjelmose Bolund, Cathrine Elisabeth Gjerulfsen, Pernille Axél Gregersen, Monica Zilmer, Stefan Juhl, Katarzyna Cebula, Elisa Rahikkala, Isabelle Maystadt, Angela Peron, Aglaia Vignoli, Rosa Maria Alfano, Franco Stanzial, Francesco Benedicenti, Aurora Currò, Ho-Ming Luk, Guillaume Jouret, Ella Zurita, Lara Heuft, Franziska Schnabel, Andreas Busche, Hermine Elisabeth Veenstra-Knol, Tinatin Tkemaladze, Pascal Vrielynck, Damien Lederer, Konrad Platzer, Charlotte Wilhelmina Ockeloen, Himanshu Goel, Karen Jaqueline Low. Natural history of adults with KBG syndrome: A physician-reported experience. Genetics in Medicine,Volume 26, Issue 8,2024,101170,ISSN 1098-3600,https://doi.org/10.1016/j.gim.2024.101170.
Bidhya Pandey, Isabelle Bray, Sunil Kumar Joshi, Julie Mytton. Utility of routine data reporting injuries requiring hospitalisation in Nepal: a secondary data analysis. NIHR Global Health Research Journal. 2024. Accepted for publication 22/01/2024 https://doi.org/10.3310/ATAE3098
Martijn Thierry, Anish Khadka, Kazi Burhan Uddin, John Parkin, AKM Fazlur Rahman, Sunil Kumar Joshi, Julie Mytton. Replication of a local record keeping method for collecting road crash data in low resource settings: lessons from Bangladesh and Nepal. Injury Prevention. Published Online First 11 June 2024. http://dx.doi.org/10.1136/ip-2024-045279
Bowman P, Grimes H, DallossoAR, Berry I, Mullin S, Rankin J, Low, KJ. Whole genome sequencing for copy number variant detection to improve diagnosis and management of rare diseases. Dev Med Child Neurol. 2024; 00: 1–6. https://doi.org/10.1111/dmcn.15985
Low KJ, Watford A, Blair P, Nabney I, Powell J, Wynn SL, Foreman J, Firth H, Ingram J. Improving the care of children with GENetic Rare disease: Observational Cohort study (GenROC)-a study protocol. BMJ Open. 2024 May 16;14(5):e085237.
Parslow R, Duncan LJ, Caddick B, Chew-Graham CA, Turner K, Payne RA, Mann C, Guthrie B, Blair P, McCahon D. Collaborative discussions between pharmacists and general practitioners to optimise patient medication: a qualitative study within a clinical trial. Br J Gen Pract. 2024 Jul 1:BJGP.2024.0190.
June 2024
Iles-Caven Y, Northstone K, Golding J. Sexual experiences, behaviours and attitudes in the parent generation of the Avon Longitudinal Study of Parents and Childhood (ALSPAC). [version 1; peer review: awaiting peer review]. Wellcome Open Res 2024a; 9:240 http://dx.doi.org/10.12688/wellcomeopenres.21263.1
Iles-Caven Y, Golding J. Sexual experiences and behaviours in the offspring generation of the Avon Longitudinal Study of Parents and Childhood (ALSPAC). [version 1; peer review: awaiting peer review]. Wellcome Open Res 2024b, 9:241; http://dx.doi.org/10.12688/wellcomeopenres.21687.1
Golding, J., Tikellis, G., Paltiel, O., Klebanoff, M., Magnus, P. M., Northstone, KLinet, M., Ward, M. H., Olsen, S., Phillips, G., Lemeshow, S., Qiu, X., Hirst, J. E., & Dwyer, T. (2024). Association of common maternal infections with birth outcomes: a multinational cohort study. Infection. https://doi.org/10.1007/s15010-024-02291-0
Low KJ, Watford A, Blair P, Nabney I, Powell J, Wynn SL, Foreman J, Firth H, Ingram J Improving the care of children with GENetic Rare disease: Observational Cohort study (GenROC)—a study protocol BMJ Open 2024;14:e085237. doi: 10.1136/bmjopen-2024-085237
Pike K, Skene I, Kinley E Griffiths C, Pfeffer P, Steed L BMJ Open 2023;13:e069208. Understanding interventions delivered in the Emergency Department targeting improved asthma outcomes beyond the Emergency Department: an integrative review
Royston AP, Burge S, IdiniI, et al Management of severe ME/CFS in children and young people in the UK: a British Paediatric Surveillance Unit studyBMJ Paediatrics Open 2024;8:e002436. doi: 10.1136/bmjpo-2023-002436
PikeKC, Riley M, Brotherston S, , Kelly P, Samuels M, Child: Care, Health & Development. “It gives me more freedom”: Family perspectives on travelling with children on nocturnal ventilation.
PikeKC, RileyM, Brotherston S, Samuels M, Pediatr Pulmonol 2023 Jan;58(1):88-97. Modified hypoxic challenge testing in children needing nocturnal ventilation: an observational study.
Pike KC, Sharrad KJ, Sanwo O, Cuevas-Asturias S, Kew KM, Carson-Chahhoud KV, Pike KC. Psychological interventions for asthma in children and adolescents. Cochrane Database Syst Rev. 2024 Jan 11;1(1):CD013420. doi: 10.1002/14651858.CD013420.pub2. PMID: 38205864; PMCID: PMC10782779.
Julie Mytton, Preeti Gautam, Anish Khadka, Obindra B. Chand, Manish Prasai, Sunil Paudel, Sunil Kumar, Joshi,Emer Brangan. Facilitators and barriers to inclusive and safe mobility on urban roads in Kathmandu, Nepal: a participatory research study. Disability and Society. 1-22. 2024. https://doi.org/10.1080/09687599.2024.2331728.
May 2024
Karen J. Low10,9 Olfactory bulb anomalies in KBG syndrome mouse model and patients Kara Goodkey1,2, Anita Wischmeijer3 , Laurence Perrin4 , Adrianne E. S. Watson1,2, Leenah Qureshi1 , Duccio Maria Cordelli5 , Francesco Toni6 , Maria Gnazzo7 , Francesco Benedicenti3 , Monique Elmaleh‑Bergès8 and Anastassia Voronova1,1
Alexander Royston. Management of Severe ME/CFS in Children and Young People in the UK: a British Paediatric Surveillance Unit study. bmjpo-2023-002436.R1.
Goodwin L, Kirby K, McClelland G, Beach E, Bedson A, Benger JR, Deave T,Osborne R, McAdam H, McKeon-Carter R, Miller N, Taylor H, Voss S. Inequalities in birth before arrival at hospital in South West England: a multi-methods study of neonatal hypothermia and emergency medical services call-handler advice. BMJ Open2024;14:e081106. doi:10.1136/
Pease A, Ingram J, Lambert B, Patrick K, Pitts K, Fleming PJ, Blair PS; Baby Sleep Project Family Advisory Group.A Risk Assessment and Planning Tool to Prevent Sudden Unexpected Death in Infancy: Development and Evaluation of The Baby Sleep Planner. JMIR Pediatr Parent 2024 Feb 22;7:e49952. doi: 10.2196/49952.
Clement C, Ingram J,Cabral C, Blair PS, Hay AD, Seume P, Horwood J. Implementation of Children with acute cough (CHICO) intervention to improve antibiotics management: a qualitative study in primary care. BJGP April 2024. doi.org/10.3399/BJGP.2023.0330.
Preeti Gautam, Anish Khadka, Obindra B. Chand, Manish Prasai, Sunil Paudel, Sunil Kumar Joshi, Julie Mytton, Emer Brangan. Facilitators and barriers to inclusive and safe mobility on urban roads in Kathmandu, Nepal: a participatory research study. Disability and Society. 1-22. 2024. https://doi.org/10.1080/09687599.2024.2331728.
April 2024
Barrett S, Barlow J, Cann H, Pease A, Shiells K, Woodman J, et al. (2024) Parental decision making about safer sleep practices: A qualitative study of the perspectives of families with additional health and social care needs. PLoS ONE 19(3): e0298383. https://doi.org/10.1371/journal.pone.0298383
March 2024
February 2024
January 2024
December 2023
November 2023
October 2023
September 2023
https://doi.org/10.1111/chso.12767