Research

The clinical team at GOSH works closely with the research department at the Behavioural and Brain Sciences Unit (BBSU) at UCL Great Ormond Street Institute of Child Health (ICH). We collaborate with colleagues around the world to try and understand the genetic, psychological and neurophysiological basis of disorders on the autism spectrum. All information we obtain in terms of interview, observation and other investigations is compiled into anonymised computerised files. From our database of nearly 2000 children, we are able to compare a child’s problems with others seen in our clinic and can look for similarities and differences. For research purposes, we usually ask parents to donate DNA samples too. 

We collaborate with colleagues around the world to try and understand the genetic, psychological and neurophysiological basis of disorders on the autism spectrum. All information we obtain in terms of interview, observation and other investigations is complied into anonymised computerised files. From our database of nearly 2000 children, we are able to compare a child’s problems with others seen in our clinic and can look for similarities and differences. For research purposes, we usually ask parents to donate DNA samples too. 

Current Projects

We are currently involved with the following research projects that are being conducted at the BBSU and ICH:

Autism families study

This study is open to all families who are seen at the clinic. We ask all families attending the clinic for consent to be contacted in the future about research studies that might be of interest to them. Over the past 15 years, over 90% of families have agreed to take part in further studies, some of which are described below.

Supporting children with Autism Spectrum Disorder (ASD) in mainstream education

For a child with ASD, the move from primary to secondary school can be a very difficult change. Parents of children that we see at the clinic regularly ask us for advice and guidance around this transition. A research grant from Great Ormond Street Hospital Children's Charity enabled us to develop support packs to help make the process easier for children, their families and schools.

Supporting children in education

A book for schools that describes a range of procedures for supporting children with ASD making the transition to secondary school is available to purchase here.

Repetitive and stereotyped behaviours

Repetitive and stereotyped behaviours are a relatively under-researched area of ASD. Download our leaflet: Repetitive and stereotyped behaviours

Executive functions in ASD

Many children with an autism spectrum disorder have problems with so-called executive skills, even if their overall intelligence is high. Those skills include attention, emotional control and the ability to shift attention from one thing to another (cognitive inflexibility). In collaboration with Dr William Mandy and Professor Paul Burgess, at UCL, we are devising new ways of measuring executive functions, because the existing methods are not suitable for children with autism spectrum disorders. We hope to use this information to devise novel psychological treatments.

Females with ASD

In recent years, clinicians are becoming more aware that our current methods of evaluating autism spectrum disorders do not work as well for girls as they do for boys. This means that many girls who are affected do not get a diagnosis, especially if they have high intelligence and/or are in adolescence. We have developed expertise in making a more appropriate assessment of the difficulties experienced by such girls. A video about our work is available here.

Recent publications

Murin M, Hellriegel J & Mandy W. (2016) Autism Spectrum Disorder and the Transition into Secondary School: A Handbook for Implementing Strategies in the Mainstream School Setting. London, UK: Jessica Kingsley Publishers.

Spitzer D, White SJ, Mandy W, Burgess PW. (2016) Confabulation in children with autism. Cortex. Oct 19. pii: S0010-9452(16)30277-5. doi:10.1016/j.cortex.2016.10.004. PubMed PMID: 27837906.

Hellriegel J, Barber C, Wikramanayake M, Fineberg NA, Mandy W. (2016). Is "not just right experience" (NJRE) in obsessive-compulsive disorder part of an autistic phenotype? CNS Spectr. Nov 11:1-10. PubMed PMID:27834163.

Bargiela S, Steward R, Mandy W. (2016) The Experiences of Late-diagnosed Women with Autism Spectrum Conditions: An Investigation of the Female Autism Phenotype. J Autism Dev Disord. Oct;46(10):3281-94. doi: 10.1007/s10803-016-2872-8.PubMed PMID: 27457364; PubMed Central PMCID: PMC5040731.

Westwood H, Stahl D, Mandy W, Tchanturia K. (2016). The set-shifting profiles of anorexia nervosa and autism spectrum disorder using the Wisconsin Card Sorting Test: a systematic review and meta-analysis. Psychol Med. Jul;46(9):1809-27.doi: 10.1017/S0033291716000581. PubMed PMID: 27109830.

Slappendel G, Mandy W, van der Ende J, Verhulst FC, van der Sijde A, Duvekot J, Skuse D, Greaves-Lord K.(2016). Utility of the 3Di Short Version for the Diagnostic Assessment of Autism Spectrum Disorder and Compatibility with DSM-5. J Autism Dev Disord. May;46(5):1834-46. doi: 10.1007/s10803-016-2713-9. PubMed PMID: 26825661; PubMed Central PMCID: PMC4826433.

Mandy W, Lai MC.(2016) Annual Research Review: The role of the environment in the developmental psychopathology of autism spectrum condition. J Child Psychol Psychiatry. Mar;57(3):271-92. doi: 10.1111/jcpp.12501. Review. PubMed PMID: 26782158.

Mandy W, Murin M, Baykaner O, Staunton S, Cobb R, Hellriegel J, Anderson S, Skuse D. (2016). Easing the transition to secondary education for children with autism spectrum disorder: An evaluation of the Systemic Transition in EducationProgramme for Autism Spectrum Disorder (STEP-ASD). Autism. Jul;20(5):580-90. PubMed PMID: 26304678; PubMed Central PMCID:PMC4887819.

Mandy W, Murin M, Baykaner O, Staunton S, Hellriegel J, Anderson S, Skuse D.(2016) .The transition from primary to secondary school in mainstream education forchildren with autism spectrum disorder. Autism, 20(1):5-13.

Westwood H, Eisler I, Mandy W, Leppanen J, Treasure J, Tchanturia K.(2016) Using the Autism-Spectrum Quotient to Measure Autistic Traits in Anorexia Nervosa: A Systematic Review and Meta-Analysis. J Autism Dev Disord. Mar;46(3):964-77. Review. PubMed PMID: 26542816; PubMed Central PMCID: PMC4746216

Mandy W, Tchanturia K.(2015) Do women with eating disorders who have social and flexibility difficulties really have autism? A case series. Mol Autism. May 13;6:6. doi: 10.1186/2040-2392-6-6. PubMed PMID: 26056560; PubMed Central PMCID: PMC4459459.

Mandell D, Mandy W. (2015). Should all young children be screened for autism spectrum disorder? Autism. Nov;19(8):895-6. PubMed PMID: 26734703.

Gordon K, Murin M, Baykane, O, Roughan L, Livermore-Hardy V, Skuse D & Mandy W. (2015). A randomised controlled trial of PEGASUS, a psychoeducational programme for young people with high-functioning autism spectrum disorder. J Child Psychol Psychiatry, 56 (4), 468–76.

Mandy W, Murin M, Baykaner O, Staunton S, Cobb R, Hellriegel J & Skuse D. (2015). Easing the transition to secondary education for children with autism spectrum disorder: An evaluation of the Systemic Transition in Education Programme for Autism Spectrum Disorder (STEP-ASD). Autism, Epub: ahead of print.

Mandy W, Murin M, Baykaner O, Staunton S, Cobb R, Hellriegel J & Skuse D. (2016). Easing the transition to secondary education for children with autism spectrum disorder: An evaluation of the Systemic Transition in Education Programme for Autism Spectrum Disorder (STEP-ASD). Autism. 20(5), 580-590.

Skuse, D. H., Lori, A., Cubells, J. F., Lee, I., Conneely, K. N., Puura, K., Young, L. J. (2014). Common polymorphism in the oxytocin receptor gene (OXTR) is associated with human social recognition skills. Proceeding of the National Academy of Sciences of the United States of America, 111 (5), 1987-1992. doi:10.1073/pnas.1302985111

St Pourcain, B., Skuse, D. H., Mandy, W. P., Wang, K., Hakonarson, H., Timpson, N. J., . . . Smith, G. D. (2014). Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence. Mol Autism, 5 (1), 18-?. doi:10.1186/2040-2392-5-18

Kothari, R., Skuse, D., Wakefield, J., & Micali, N. (2013). Gender Differences in the Relationship Between Social Communication and Emotion Recognition. Journal of the American Academy of Child & Adolescent Psychiatry, 52 (11), 1148-1157.e2. doi:10.1016/j.jaac.2013.08.006

Mandy, W., Charman, T., Puura, K., & Skuse, D. (2013). Investigating the cross-cultural validity of DSM-5 autism spectrum disorder: Evidence from Finnish and UK samples. Autism. doi:10.1177/1362361313508026

Ricotti, V., Scoto, M., Mandy, W., Entwistle, K., Robb, A., Pane, M., Muntoni, F. (2013). Neuropsychiatric comorbidities in Duchenne Muscular Dystrophy. Neuromuscular Disorders, 23 (9-10), 752-753. doi:10.1016/j.nmd.2013.06.418

Mandy, W., Skuse, D., Steer, C., St Pourcain, B., & Oliver, B. R. (2013). Oppositionality and Socioemotional Competence: Interacting Risk Factors in the Development of Childhood Conduct Disorder Symptoms. Journal of the American Academy of Child and Adolescent Psychiatry, 52 (7), 718-727. doi:10.1016/j..jaac.2013.04.011

Arkush, L., Smith-Collins, A. P. R., Fiorentini, C., & Skuse, D. H. (2013). Recognition of Face and Non-Face Stimuli in Autistic Spectrum Disorder. Autism Research,  6 (6), 550-560. doi:10.1002/aur.1318

Smith-Collins, A. P., Fiorentini, C., Kessler, E., Boyd, H., Roberts, F., & Skuse, D. H. (2013). Specific neural correlates of successful learning and adaptation during social exchanges. Soc Cogn Affect Neurosci, 8 (8), 887-896. doi:10.1093/scan/nss079

Mandy, W., Roughan, L., & Skuse, D. (2013). Three Dimensions of Oppositionality in Autism Spectrum Disorder. J Abnorm Child Psychol. doi:10.1007/s10802-013-9778-0

Briscoe, J., Chilvers, R., Baldeweg, T., & Skuse, D. (2012). A specific cognitive deficit within semantic cognition across a multi-generational family. Proc Biol Sci, 279 (1743), 3652-3661. doi:10.1098/rspb.2012.0894

Garcia-Hernandez, J., Mohmaduvesh, M., Davies, P., Quaglia, E., Toumpanakis, C., Skuse, D. H., & Caplin, M. (2012). Depression and Carcinoid Syndrome: Is There Any Relationship? A Cross-Sectional Study. Neuroendocrinology, 96, 32.

Skuse, D. H. (2012). DSM-5's conceptualization of autistic disorders. J Am Acad Child Adolesc Psychiatry, 51 (4), 344-346. doi:10.1016/j.jaac.2012.02.009

Leblond, C. S., Heinrich, J., Delorme, R., Proepper, C., Betancur, C., Huguet, G., Bourgeron, T. (2012). Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders. Plos Genetics, 8 (2). doi:10.1371/journal.pgen.1002521

Mandy, W. P., Skuse, D. H., Charman, T., & Frazier, T. W. (2012). In defense of lumping (and splitting). J Am Acad Child Adolesc Psychiatry, 51 (4), 441-442. doi:10.1016/j.jaac.2012.02.004

Skuse, D. H. (2012). Learning from chromosomal disorders: progress and prospects. Curr Opin Neurol, 25 (2), 103-105. doi:10.1097/WCO.0b013e3283519a3b

Ricotti, V., Scoto, M., Mandy, W. P. L., Entwistle, K., Robb, S. A., Mercuri, E., Muntoni, F. (2012). Neurobehavioural disorders in Duchenne Muscular Dystrophy. Neuromuscular Disorders, 22 (9-10), 887. doi:10.1016/j.nmd.2012.06.278

Ricotti, V., Mandy, W. P. L., Robb, S. A., Skuse, D. H., & Muntoni, F. (2012). Neurobehavioural disorders in Duchenne Muscular dystrophy. Neuromuscular Disorders, 22, S10.

Mandy, W., Chilvers, R., Chowdhury, U., Salter, G., Seigal, A., & Skuse, D. (2012). Sex differences in autism spectrum disorder: evidence from a large sample of children and adolescents. J Autism Dev Disord, 42 (7), 1304-1313. doi:10.1007/s10803-011-1356-0

Sadiq, F. A., Slator, L., Skuse, D., Law, J., Gillberg, C., & Minnis, H. (2012). Social use of language in children with reactive attachment disorder and autism spectrum disorders. European Child & Adolescent Psychiatry, 21 (5), 267-276. doi:10.1007/s00787-012-0259-8

Mandy, W. P., Charman, T., & Skuse, D. H. (2012). Testing the construct validity of proposed criteria for DSM-5 autism spectrum disorder. J Am Acad Child Adolesc Psychiatry, 51 (1), 41-50. doi:10.1016/j.jaac.2011.10.013