Research and publications from the Great Ormond Street Hospital Neurodisability Service

The Great Ormond Street Hospital Neurodisability Service is involved in a broad range of research across all clinics.

Each service holds a database containing information about children seen in the clinic over a number of years, which will ultimately further our knowledge about the management of children with disabilities and their treatment.

Clinical information may be entered into this database, although all data is strictly confidential and will only be used in an anonymous way so children cannot be identified.

Any parent is free to opt out if they would prefer their child’s details not to be entered into the database. This will have no impact on their child’s future care or treatment.

Recent publications:


Clark, E., & Koutsogianni, M. (2022). Genetic investigations pathway for people with intellectual disability, autism and/or epilepsy. BJPsych Advances, 1-10. doi:10.1192/bja.2022.44


Clark, M., Holmes, H., Ngoh, A., Siyani, V., & Wilson, G. (in press). Overview of Landau Kleffner syndrome: early treatment, tailored education and therapy improve outcome. Paediatrics and Child Health

Smyth, J., Richardson, J., & Salt, A. (2021). The associations between vision level and early hand use in children aged 6–36 months with visual impairment: A cross-sectional, historical case note review. British Journal of Visual Impairment, 0264619621994867.

Holmes, H., Sawer, F., & Clark, M. (2021). Autism spectrum disorders and epilepsy in children: A commentary on the occurrence of autism in epilepsy; how it can present differently and the challenges associated with diagnosis. Epilepsy & Behavior, 107813.

Sakki, H., Bowman, R., Sargent, J., Kukadia, R., & Dale, N. (2021). Visual function subtyping in children with early‐onset cerebral visual impairment. Developmental Medicine & Child Neurology, 63(3), 303-312.

Jurkute N, Bertacchi M, Arno G, Tocco C, Kim US, Kruszewski AM, Avery RA, Bedoukian EC, Han J, Ahn SJ, Pontikos N, Acheson J, Davagnanam I, Bowman R, Kaliakatsos M, Gardham A, Wakeling E, Oluonye N, Reddy MA, Clark E, Rosser E, Amati-Bonneau P, Charif M, Lenaers G, Meunier I, Defoort S, Vincent-Delorme C, Robson AG, Holder GE, Jeanjean L, Martinez-Monseny A, Vidal-Santacana M, Dominici C, Gaggioli C, Giordano N, Caleo M, Liu GT; Genomics England Research Consortium, Webster AR, Studer M, Yu-Wai-Man P. (2021) Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model. Brain Communications. Jul 20;3(3):fcab162. doi: 10.1093/braincomms/fcab162.


Sakkalou, E., O’Reilly, M. A., Sakki, H., Springall, C., de Haan, M., Salt, A. T., & Dale, N. J. (2020). Mother–infant interactions with infants with congenital visual impairment and associations with longitudinal outcomes in cognition and language. Journal of Child Psychology and Psychiatry.

Michael T. Clarke, Jenefer Sargent, Rosemary Cooper, Gabriella Aberbach,

Laura McLaughlin, Gurveen Panesar, Amie Woghiren, Tom Griffiths , Katie Price, Caroline Rose

& John Swettenham (2020): Development and testing of the eye-pointing classification scale for

children with cerebral palsy, Disability and Rehabilitation, DOI: 10.1080/09638288.2020.1800834

Salt, A. T., O’Reilly, M. A., Sakkalou, E., & Dale, N. J. (2020). Detection vision development in infants and toddlers with congenital vision disorders and profound‐severe visual impairment. Developmental Medicine & Child Neurology, 62(8), 962-968.


Dale, N. J., Sakkalou, E., O'Reilly, M. A., Springall, C., Sakki, H., Glew, S., ... & Salt, A. T. (2019). Home‐based early intervention in infants and young children with visual impairment using the Developmental Journal: longitudinal cohort study. Developmental Medicine & Child Neurology, 61(6), 697-709.


Oluonye, N., & Sargent, J. (2018). Severe visual impairment: practical guidance for paediatricians. Paediatrics and Child Health.

Scollo, P., Snead, M. P., Richards, A. J., Pollitt, R., & DeVile, C. (2018). Bilateral giant retinal tears in Osteogenesis Imperfecta. BMC medical genetics, 19(1), 8.

Bathelt, J., De Haan, M., Salt, A., & Dale, N. J. (2018). Executive abilities in children with congenital visual impairment in mid-childhood. Child Neuropsychology, 24(2), 184-202.


Griffiths, T. & Addison, A. (2017). Access to communication technology for children with cerebral palsy. Paediatrics and Child Health, 27(10), pp.470-475.

Bates, K. & Macleod, K., (2017). Assessing communication for children with movement disorders–a practical approach. Paediatrics and Child Health, 27(10), pp.465-469.

Clark, M., Greenaway, R., & Neville, B. (2017). Landau Kleffner Syndrome. In A. Arzimanoglou (Ed.), Pediatric Epilepsy Surgery. John Libbey.

Salt, A., & Sargent, J. (2017). Fifteen-minute consultation—the child with a developmental disability: is there an ocular or visual abnormality?. Archives of Disease in Childhood-Education and Practice, 102(6), 304-309.

Sakkalou, E., Sakki, H., O'reilly, M. A., Salt, A. T., & Dale, N. J. (2017). Parenting stress, anxiety, and depression in mothers with visually impaired infants: a cross‐sectional and longitudinal cohort analysis. Developmental Medicine & Child Neurology.

O'Reilly, M. A., Bathelt, J., Sakkalou, E., Sakki, H., Salt, A., Dale, N. J., & de Haan, M. (2017). Frontal EEG asymmetry and later behavior vulnerability in infants with congenital visual impairment. Clinical Neurophysiology, 128(11), 2191-2199.

Bathelt, J., Dale, N., & de Haan, M. (2017). Event-related potential response to auditory social stimuli, parent-reported social communicative deficits and autism risk in school-aged children with congenital visual impairment. Developmental cognitive neuroscience, 27, 10-18.

Dale, N., Sakkalou, E., O'reilly, M., Springall, C., De Haan, M., & Salt, A. (2017). Functional vision and cognition in infants with congenital disorders of the peripheral visual system. Developmental Medicine & Child Neurology, 59(7), 725-731.

Sakki, H. E., Dale, N. J., Sargent, J., Perez-Roche, T., & Bowman, R. (2017). Is there consensus in defining childhood cerebral visual impairment? A systematic review of terminology and definitions. British Journal of Ophthalmology, bjophthalmol-2017.

Greenaway, R. & Dale, N.J. (2017). Congenital Visual Impairment. In L. Cummings (Ed.), Research in Clinical Pragmatics. (pp. 441-469). Springer International Publishing.

Balasubramanian, M., Hurst, J., Brown, S., Bishop, N. J., Arundel, P., DeVile, C., ... & Shackley, F. (2017). Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta. Bone, 94, 65-74.


Oulton, K., Wray, J., Carr, L., Hassiotis, A., Jewitt, C., Kerry, S., ... & Gibson, F. (2016). Pay More Attention: a national mixed methods study to identify the barriers and facilitators to ensuring equal access to high-quality hospital care and services for children and young people with and without learning disabilities and their families. BMJ open, 6(12), e012333.

Ganos, C., Crowe, B., Stamelou, M., Kresojević, N., Lukić, M. J., Bras, J., ... & Schneider, S. A. (2016). The clinical syndrome of dystonia with anarthria/aphonia. Parkinsonism & related disorders, 24, 20-27.

Keil, S., Fielder, A., & Sargent, J. (2016). Management of children and young people with vision impairment: diagnosis, developmental challenges and outcomes. Archives of Disease in Childhood, archdischild-2016.

Cawker, S., & Aquilina, K. (2016). Selective Dorsal Rhizotomy (the perspective of the neurosurgeon and physiotherapist). Paediatrics and Child Health, 26(9), 395-399.

Carr, L., & Coghill, J. (2016). Mimics of cerebral palsy. Paediatrics and Child Health, 26(9), 387-394.

Clarke, M., Price, K., & Griffiths, T. (2016). Augmentative and Alternative Communication for Children with Cerebral Palsy. Paediatrics and Child Health, 26(9), 373-377.

Greenaway, R., Pring, L., Schepers, A., Isaacs, D. P., & Dale, N. J. (2016). Neuropsychological presentation and adaptive skills in high-functioning adolescents with visual impairment: A preliminary investigation. Applied Neuropsychology: Child, 1-13.


Aquilina, K., Graham, D., & Wimalasundera, N. (2015). Selective dorsal rhizotomy: an old treatment re-emerging. Archives of Disease in Childhood, doi:10.1136/archdischild-2014-306874

Crowe, B. H., & Salt, A. T. (2015). Autism: the management and support of children and young people on the autism spectrum (NICE Clinical Guideline 170). Archives of Disease in Childhood-Education & Practice Edition, 100(1), 20-23.

Dale, N., & Edwards, L. (2015). Children with specific sensory impairments. In A. Thapar, D.S. Pine, J.F. Leckman, S. Scott, M. J. Snowling, E. A. Taylor (Eds.) Rutter's Child and Adolescent Psychiatry (pp. 612-622). Chichester: John Wiley & Sons Ltd.

Downes, M., Greenaway, R., Clark, M., Cross, H.J., Jolleff, N., Harkness, W., ... & Neville, B. G. (2015). Outcome following multiple subpial transection in Landau‐Kleffner syndrome and related regression. Epilepsia, 56(11), 1760-1766.


Hales, P. W., Kawadler, J. M., Aylett, S. E., Kirkham, F. J., & Clark, C. A. (2014). Arterial spin labeling characterization of cerebral perfusion during normal maturation from late childhood into adulthood: normal ‘reference range’ values and their use in clinical studies. Journal of Cerebral Blood Flow & Metabolism, 34(5), 776–784.

Salt, A, & Sargent, J. (2014). Common visual problems in children with disability. Archives of Disease in Childhood. doi:10.1136/archdischild-2013-305267.

Sargent, J. (2014). Identifying visual difficulty in children with special educational needs: where should we look? Archives of Disease in Childhood. doi:10.1136/archdischild-2013-305256.

Sewell, M.D., Eastwood, D.M., & Wimalasundera, N. (2014). Managing common symptoms of cerebral palsy in children. British Medical Journal, 349, g5474.


Fosi, T., Lax‐Pericall, M. T., Scott, R. C., Neville, B. G., & Aylett, S. E. (2013). Methylphenidate treatment of attention deficit hyperactivity disorder in young people with learning disability and difficult‐to‐treat epilepsy: Evidence of clinical benefit. Epilepsia, 54(12), 2071–2081.

Greenaway, R., Davis, G., & Plaisted-Grant K. (2013). Marked selective impairment in autism on an index of magnocellular function. Neuropsychologia, 51(4), 592–600.

Sargent, J., Clarke, M., Price, K., Griffiths, T., & Swettenham, J. (2013). Use of eye‐pointing by children with cerebral palsy: what are we looking at? International Journal of Language & Communication Disorders, 48(5), 477–485.

Tadić, V., Pring, L., & Dale, N. (2013). Story discourse and use of mental state language between mothers and school‐aged children with and without visual impairment. International Journal of Language & Communication Disorders, 48(6), 679-688.

Webb, E. A., O’Reilly, M. A., Clayden, J. D., Seunarine, K. K., Dale, N., Salt, A., et al. (2013). Reduced Ventral Cingulum Integrity and Increased Behavioral Problems in Children with Isolated Optic Nerve Hypoplasia and Mild to Moderate or No Visual Impairment. PloS one, 8(3), e59048.