1. Bhakar AL, Dolen G, Bear MF. {{The Pathophysiology of Fragile X (and What It Teaches Us about Synapses)}}. {Annu Rev Neurosci};2012 (Jul 21);35:417-443.
Fragile X is the most common known inherited cause of intellectual disability and autism, and it typically results from transcriptional silencing of FMR1 and loss of the encoded protein, FMRP (fragile X mental retardation protein). FMRP is an mRNA-binding protein that functions at many synapses to inhibit local translation stimulated by metabotropic glutamate receptors (mGluRs) 1 and 5. Recent studies on the biology of FMRP and the signaling pathways downstream of mGluR1/5 have yielded deeper insight into how synaptic protein synthesis and plasticity are regulated by experience. This new knowledge has also suggested ways that altered signaling and synaptic function can be corrected in fragile X, and human clinical trials based on this information are under way.
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2. Gephart E. {{Use of Prevention and Prevention Plus Weight Management Guidelines for Youth With Developmental Disabilities Living in Group Homes}}. {West J Nurs Res};2012 (Jul 19)
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3. Singh A, Ganesan S, Pande S, Sridhar AV. {{Unusual cause of small bowel obstruction in an autistic child}}. {BMJ Case Rep};2012;2012
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4. Slotkin TA, Seidler FJ. {{Terbutaline Impairs the Development of Peripheral Noradrenergic Projections: Potential Implications for Autism Spectrum Disorders and Pharmacotherapy of Preterm Labor}}. {Neurotoxicol Teratol};2012 (Jul 16)
Terbutaline, a beta(2)-adrenoceptor agonist, is used off-label for long-term management of preterm labor; such use is associated with increased risk of neurodevelopmental disorders, including autism spectrum disorders. We explored the mechanisms underlying terbutaline’s effects on development of peripheral sympathetic projections in developing rats. Terbutaline administration on postnatal days 2-5 led to immediate and persistent deficiencies in cardiac norepinephrine levels, with greater effects in males than in females. The liver showed a lesser effect; we reasoned that the tissue differences could represent participation of retrograde trophic signaling from the postsynaptic site to the developing neuronal projection, since hepatic beta(2)-adrenoceptors decline in the perinatal period. Accordingly, when we gave terbutaline earlier, on gestational days 17-20, we saw the same deficiencies in hepatic norepinephrine that had been seen in the heart with the later administration paradigm. Administration of isoproterenol, which stimulates both beta(1)- and beta(2)-subtypes, also had trophic effects that differed in direction and critical period from those elicited by terbutaline; methoxamine, which stimulates alpha(1)-adrenoceptors, was without effect. Thus, terbutaline, operating through trophic interactions with beta(2)-adrenoceptors, impairs development of noradrenergic projections in a manner similar to that previously reported for its effects on the same neurotransmitter systems in the immature cerebellum. Our results point to the likelihood of autonomic dysfunction in individuals exposed prenatally to terbutaline; in light of the connection between terbutaline and autism, these results could also contribute to autonomic dysregulation seen in children with this disorder.
