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Deep phenotyping of genetic syndromes associated with autism


   Department of Psychology


About the Project

Autism is an extremely heterogeneous condition. Some of this variability results from genetic heterogeneity. Some rare genetic conditions appear to have an increased prevalence of autism. We are currently investigating the phenotype of a range of neurodevelopmental conditions with a known genetic cause, such as Sotos syndrome, Russell-Silver syndrome, Weaver syndrome, Tatton-Brown Rahman syndrome and 16p11.2CNVs, with the aim of improving understanding of both the genetic conditions themselves and autism. This PhD project will conduct deep phenotyping of other genetic syndromes where there is suspected high prevalence of autism symptomatology but where the clinical profile is currently not well understood.


Funding Notes

Self funded or externally sponsored students only. Intakes are usually October and March annually.
NB The University has some scholarships under competition each year. More details can be found - View Website

References

Freeth, M., Al-Jawahiri, R., Stokes, L., & Smith, H. (2021) Speech, language and communication phenotyping in rare genetic syndromes: Commentary on Speech and language deficits are central to SETBP1 haploinsufficiency disorder . European Journal of Human Genetics, 29, 166-167.
Lane, C., Tatton-Brown, K., & Freeth, M. (2020) Tatton-Brown-Rahman syndrome : cognitive and behavioural phenotypes. Developmental Medicine & Child Neurology, 62(8), 993-998.
Lane, C., Robinson, L. & Freeth, M. (2020) Autistic traits and cognitive abilities associated with two molecular causes of Silver-Russell syndrome. Journal of Abnormal Psychology, 129(3), 312-319.
Lane, C., Milne, E., & Freeth, M. (2019). The cognitive profile of Sotos syndrome. Journal of neuropsychology, 13(2), 240-252.
Lane, C., Milne, E., & Freeth, M. (2017). Characteristics of autism spectrum disorder in Sotos syndrome. Journal of autism and developmental disorders, 47(1), 135-143.

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