Pleiotropic effects on psychopathology (Lancet 2013)

Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
Lancet. 2013 Apr 20;381(9875):1371-9.
http://www.ncbi.nlm.nih.gov/pubmed/23453885
Cross-Disorder Group of the Psychiatric Genomics Consortium.
Erratum in: Lancet. 2013 Apr 20;381(9875):1360.

BACKGROUND:
Findings from family and twin studies suggest that genetic contributions to psychiatric disorders do not in all cases map to present diagnostic categories.
We aimed to identify specific variants underlying genetic effects shared between the five disorders in the Psychiatric Genomics Consortium: autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia.

METHODS:
We analyzed genome-wide single-nucleotide polymorphism (SNP) data for the five disorders

FINDINGS:
SNPs at four loci surpassed the cutoff for genome-wide significance (p<5×10(-8)) in the primary analysis: regions on chromosomes 3p21 and 10q24, and SNPs within two L-type voltage-gated calcium channel subunits, CACNA1C and CACNB2.
Model selection analysis supported effects of these loci for several disorders.
Loci previously associated with bipolar disorder or schizophrenia had variable diagnostic specificity.
Pathway analysis supported a role for calcium channel signalling genes for all five disorders.

INTERPRETATION:
Our findings show that specific SNPs are associated with a range of psychiatric disorders of childhood onset or adult onset. In particular, variation in calcium-channel activity genes seems to have pleiotropic effects on psychopathology.
These results provide evidence relevant to the goal of moving beyond descriptive syndromes in psychiatry, and towards a nosology informed by disease cause.

cited by:
Genes and the Human Condition (From Behavior to Biotechnology)
Coursera 2014
https://www.coursera.org/course/genes

Autism & oxytocin

Oxytocin enhances brain function in children with autism
PNAS. December 24, 2013. 110(52)
Ilanit Gordon
http://www.pnas.org/content/110/52/20953.abstract

This article presents our discovery that intranasal administration of oxytocin enhances activity in the brain for socially meaningful stimuli and attenuates its response to nonsocially meaningful stimuli in children with autism spectrum disorder (ASD) as measured via functional MRI. We also identified a relationship between changes in salivary oxytocin following administration and enhancements in brain function.

These discoveries are particularly important given the urgent need for treatments that target the core social dysfunction in ASD. The functional neural attunement we demonstrated might facilitate social learning, thus potentially bringing about long-term change in neural systems and subsequent behavioral improvements.
Our results illustrate the power of a translational neuroscience approach to facilitate the development of pharmacological interventions for neurodevelopmental disorders like ASD.

related:
Promoting social behavior with oxytocin …
PNAS February 16, 2010
http://www.pnas.org/content/early/2010/02/05/0910249107

DSM-5 Autism Spectrum Disorder (ASD)

DSM-5 Autism Spectrum Disorder (ASD)
American Academy of Child Adolescent Psychiatry
http://websitedev.aacap.org

The new guidebook, DSM-5, contains significant changes to the criteria currently used to diagnose autism, including incorporating several diagnoses into the single diagnosis of autism spectrum disorder (ASD). AACAP crafted a list of Frequently Asked Questions to help families who have a child with autism understand the impact of these changes.
In addition, we updated the Fact for Families on Asperger’s. For more information, visit AACAP’s Autism Resource Center.

AACAP also created a new Facts for Families on the new diagnosis Disruptive Mood Dysregulation Disorder (DMDD).

DSM-5 Criteria for Autism Spectrum Disorder

DSM-5_criteria_for_Autism_Spectrum_2012DSM-5: The New Diagnostic Criteria For Autism Spectrum Disorders
Walter E. Kaufma nn, M.D.
Department of Neurology
Boston Children’s Hospital, Harvard Medical School
http://www.dsm5.org/Documents/Autism%20Spectrum%20Disorder%20Fact%20Sheet.pdf

slide 28:
DSM-5 Criteria for Autism Spectrum Disorder

“overly dependent on routines”
“highly sensitive to changes in their environment”
“intensely focused on inappropriate items”

related:
How to Help a Child with Autism
http://www.youtube.com/watch?v=YigJh-sK8lk