Research

The clinical team at GOSH works closely with the research department at the Behavioural and Brain Sciences Unit (BBSU) at the UCL Institute of Child Health.  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.

People with autism and autistic spectrum disorders usually have difficulties acquiring social skills that are important to get along with other people.

As we understand more about the nature of these difficulties, the more effectively we will be able to research the genetic origins of conditions such as autism and Asperger’s syndrome.

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 new research grant from the Great Ormond Street Hospital Charity is helping us to develop support packages to help to make the process easier for children, their families and schools.

This study is being run in collaboration with Professor Peter Clayton. It is looking to investigate a link between diet and autism, specifically it is investigating the possibility that there is a link between a high level of pyridoxal phosphate and a high level of serotonin.

If this link can be found, then it may be possible to alter an individual’s behaviour or mood through increasing or decreasing levels of pyridoxal phosphate, or vitamin B6, in their diet.

Repetitive and stereotyped behaviours are a relatively under-researched area of autism spectrum disorders (ASD).

New research developments are now allowing developing techniques that are used in assessment of children with suspected ASD.

Pegasus is a psychoeducational programme aimed at improve the understanding, well-being and functioning of young people with an autism spectrum disorder. We are looking for young people aged nine to 14 years of age with a diagnosis of ASD and their parents to participate in our research.

Gordon, K., Murin, M., Baykaner, O., Roughan, L., Livermore-Hardy, V Skuse, D., & Mandy, W (2014).  A randomised controlled trial of PEGASUS, a psychoeducational programme for young people with high-functioning autism spectrum disorder. Journal of Child Psychology and Psychiatry [Online]

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

Leblon, 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