Tuesday, May 13, 2008

Genetics study links brain clock and autism

This press release was sent to me by a friend of the Brain Clock blog. It is a press release from Corporate Communications and Marketing Athrolys College Road Bangor. The hyperlinks and additional reference information (including link to original research article and other Autism-related timing article) at the end of this post have been added by the Time Doc blogmaster.

Whenever I can find the time, I'll be adding autism to the "Group differences and clinical disorders" branch of the IQ Brain Clock EWOK. The complete list of possible clinical disorders research has suggested may involve aspects of mental timing (although not reflected at the current EWOK) are listed in my 2007 brain clock keynote address PPT show. This working list includes Parkinson's, Huntington's, Schizophrenia, ADHD, reading development and disorders (dyslexia), certain speech and language development related disorders, motor timing disorders, Aspergers, and now Autism.

I'm also soon be adding Dr. Wimpory to the Mental Timing Scholars blogroll of the IQ Brain Clock blog.

Publication date: 7/03/2007

Research by scientists in Wales reported in Molecular Psychiatry (advance online issue 30th Jan 07) has identified that Autistic Disorder is associated with two genes involved in timing and biological clocks: per1 and npas2. Cross species research shows that these two clock genes regulate timing mechanisms that control such things as sleep cycle, memory and communicative timing, a less familiar concept. The work, identifying a link between autism and these clock genes, was led by Dr. Dawn Wimpory, Lecturer-Practitioner/Consultant Clinical Psychologist for Autism, practising with the NWWales NHS Trust and Bangor University. She collaborated with Bangor University colleagues in both the School of Psychology and the North West Cancer Research Fund Institute (NWCRFI), together with Professor Michael J Owen’s team from Cardiff University’s Department of Psychological Medicine.

Dr. Wimpory’s clinical work and observations of the lack of social/communicative timing in Autistic Disorder was complemented by colleague Brad Nicholas of The NWCRFI suggesting that clock genes may be involved. This idea waited many years to be tested but new information from the human genome project, developments in the field of biological clocks and the construction of
autism gene banks has recently allowed the experiment to be carried out.

Autistic Disorder is characterised by three areas of abnormality: impairment in communication (verbal and non-verbal) and reciprocal social interactions together with a markedly restricted repertoire of activities and interests, all in evidence before three years of age. (Autistic Spectrum Disorders or ASDs include milder and more varied related difficulties.) Dr. Wimpory works on the hypothesis that a deficiency in social timing contributes greatly to the difficulties faced by people with Autistic Disorder.

“Timing is quintessential to normal infant development. In Autistic Disorder, malfunction of adaptive timing may lead to a cascade of other developmental problems. In the first few months an unaffected infant can take part in social exchanges, sharing eye contact and babbling in what we’d recognise as ‘natural’ communication patterns. This facility for preverbal communication appears lacking or diminished in Autistic Disorder,” explains Dr. Wimpory.

It is through such preverbal communication that an unaffected infant anticipates and predicts others’ behaviour, progressing to increasingly sophisticated social participation, for example, in teasing exchanges. Mutually enjoyable preverbal teasing games (e.g. ‘peep-bo!’) are timing-dependent. They appear as an early stage in the development of empathy and social pretence. Empathy and pretending are among the life-long difficulties for individuals with Autistic Disorder. These may be developmentally linked to early difficulties in synchronising with the inbuilt rhythms of communication including eye-contact.

The study analyzed genetic markers in 11 clock related genes from 110 individuals with Autistic Disorder and each of their parents (avoiding the more varied ASD subjects and those with additional substantial learning/intellectual impairments often included in autism genetic studies). The results showed that markers in two of the genes, npas2 and per1, had significant association with Autistic Disorder. These two genes had already been identified as regulating complex emotional memory, communicative timing and sleep patterns in the mouse and the fruit fly; organisms that are used by scientists to study the role of clock genes. Problems in sleep, memory and timing are all characteristic of Autistic Disorder; each may play an important role in its development.

“Autism is a disorder of complex inheritance where several interacting genes may be involved. This is the first autism study to identify interacting genes, it is also the first to identify genes that regulate behaviour recognised as affected in autism: timing and memory. It adds further evidence for the role of the biological clock in autism”.

The research was funded by the Baily Thomas Charitable Fund with additional support from Autism Cymru; the researchers now intend to replicate their study with a larger sample.

Time Doc blogmaster comments: I pulled the following two mental timing publications from Dr. Wimpory's web page:
  • Nicholas B, Rudrasingham V, Nash, S., Kirov G, Owen MJ, Wimpory, D. (2007). Association of Per1 and Npas2 with Autistic Disorder:Support for the Clock Genes/Social Timing Hypothesis Molecular Psychiatry,12,(6) 581-592 (click here to view)
  • Wimpory, D., Nicholas, B., Nash, S. (2002). Social Timing, Clock Genes and Autism: A New Hypothesis Journal of Intellectual Disability Research, 46,(4) 352-358. (click here to view; note that date is listed incorrectly as 2005 on Dr. Wimpory's web page)

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