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Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Prader-Willi syndrome (PWS) is a neurodevelopmental disorder characterized by hyperphagia and food preoccupations. Although dysfunction of the hypothalamus likely has a critical role in hyperphagia, it is only one of several regions involved in the regulation of eating. The purpose of this research was to examine food-related neural circuitry using functional magnetic resonance imaging in individuals with PWS and matched controls. Individuals with PWS showed increased activation in neural circuitry known to mediate hunger and motivation (hypothalamus, OFC) in response to high- versus low-calorie foods and in comparison to controls. This suggests neural circuitry for PWS is abnormally activated during hunger, particularly for high-calorie foods, and may mediate abnormally strong hunger states, therefore playing a significant role in PWS-induced hyperphagia.
J Autism Dev Disord 2008 Oct
PMID:Food-related neural circuitry in Prader-Willi syndrome: response to high- versus low-calorie foods. 1831 13

Using aCGH, we have identified a pericentromeric deletion, spanning about 8.2 Mb, within 16p11.2-p12.2 in a patient with developmental delay (DD) and dysmorphic features. This deletion arose de novo and is flanked by segmental duplications. The proposita was the only child of healthy nonconsanguineous parents, born after an uneventful pregnancy, at 40 weeks gestation, by normal delivery. She was referred to us at age 3 10/12 years for evaluation of DD and absent speech. On examination, there were a flat face; low-set, posteriorly rotated ears; high-arched palate; hypotonic face; right single palmar crease; long, thin fingers; and a sacral dimple. Her height was at the 50th centile, weight at the 25th, and OFC at the 30th. Results of DNA FraX, HRB chromosomes, metabolic work-up, audiologic evaluation, brain MRI, electroencephalogram, and heart/abdomen ultrasonography were normal. When last seen, aged 8 years, she had a moderate intellectual disability (ID) and poor speech. She was hyperactive with short attention span and difficulty in concentration, but, based on formal testing, did not have autism. Our patient shows common clinical features to the four individuals described by Ballif et al. [Ballif et al. (2007); Nat Genet 39:1071-1073], and further characterizes the new microdeletion syndrome of 16p11.2-p12.2. aCGH suggests that the deletions of all cases share the same distal breakpoint. Of note, the proximal breakpoint of our proposita overlaps the distal breakpoint of the autistic patients studied by Kumar et al. [Kumar et al. (2008); Hum Mol Genet 17:628-638] and Weiss et al. [Weiss et al. (2008); N Eng J Med 358:667-675], confirming that the 16p region carrying susceptibility to autism is more centromeric. Our observation further defines two different, contiguous 16p genomic regions, responsible for a distinct MCA/ID syndrome, and for autism, respectively.
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PMID:Further characterization of the new microdeletion syndrome of 16p11.2-p12.2. 1944 18

Oxytocin is an important modulator of human affiliative behaviors, including social skills, human pair bonding, and friendship. CD38 will be discussed as an immune marker and then in more detail the mechanisms of CD38 on releasing brain oxytocin. Mention is made of the paralogue of oxytocin, vasopressin, that has often overlapping and complementary functions with oxytocin on social behavior. Curiously, vasopressin does not require CD38 to be released from the brain. This review discusses the social salience hypothesis of oxytocin action, a novel view of how this molecule influences much of human social behaviors often in contradictory ways. The oxytocinergic-vasopressinergic systems are crucial modulators of broad aspects of human personality. Of special interest are studies of these two hormones in trust related behavior observed using behavioral economic games. This review also covers the role of oxytocin in parenting and parental attachment. In conclusion, the effects of oxytocin on human behavior depend on the individual's social context and importantly as well, the individual's cultural milieu, viz. East and West. ACRONYMS: ACC = Anterior Cingulate ADP = Adenosine diphosphate AQ = Autism Quotient cADPR = Cyclic ADP-ribose CNS = Central nervous system DA = Dopamine eQTLC = Expression Quantitative Trait Loci LC-NE = Locus Coeruleus-Norepinephrine MRI = Magnetic Resonance Imaging OFC = Orbitofrontal cortices OXT = Oxytocin RAGE = Receptor for advanced glycation end-products SARM1 = Sterile Alpha and toll/interleukin-1 receptor motif-containing 1 TRPM2= Transient Receptor Potential Cation Channel Subfamily M Member 2 AVP = Vasopressin.
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PMID:A Novel Role of CD38 and Oxytocin as Tandem Molecular Moderators of Human Social Behavior. 3236 Apr 14