1. Chung L, Bey AL, Jiang YH. {{Synaptic plasticity in mouse models of autism spectrum disorders}}. {The Korean journal of physiology & pharmacology : official journal of the Korean Physiological Society and the Korean Society of Pharmacology}. 2012 Dec;16(6):369-78.
Analysis of synaptic plasticity together with behavioral and molecular studies have become a popular approach to model autism spectrum disorders in order to gain insight into the pathosphysiological mechanisms and to find therapeutic targets. Abnormalities of specific types of synaptic plasticity have been revealed in numerous genetically modified mice that have molecular construct validity to human autism spectrum disorders. Constrained by the feasibility of technique, the common regions analyzed in most studies are hippocampus and visual cortex. The relevance of the synaptic defects in these regions to the behavioral abnormalities of autistic like behaviors is still a subject of debate. Because the exact regions or circuits responsible for the core features of autistic behaviors in humans are still poorly understood, investigation using region-specific conditional mutant mice may help to provide the insight into the neuroanatomical basis of autism in the future.
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2. Langdon PE, Murphy GH, Clare IC, Palmer EJ, Rees J. {{An Evaluation of the EQUIP Treatment Programme with Men who have Intellectual or Other Developmental Disabilities}}. {Journal of applied research in intellectual disabilities : JARID}. 2012 Dec 28.
BACKGROUND: The Equipping Youth to Help One Another Programme (EQUIP) was designed for young offenders to address a developmental delay in moral reasoning, distorted cognitions and social skills. METHODS: The present authors undertook a single case series study and piloted an adapted version of the EQUIP programme with three men with intellectual disabilities and four men with a diagnosis of Asperger Syndrome, all of whom were detained in a medium-secure forensic unit for people with intellectual disabilities. Treatment was delivered over a 12-week period, and participants took part in four-one-hour sessions per week. RESULTS: The results suggested that treatment was successful at increasing moral reasoning ability, reducing distorted cognitions and improving ability to choose effective solutions to problems. However, treatment did not have a significant effect upon anger. CONCLUSIONS: The EQUIP programme is a promising treatment, but further research is needed to investigate its effectiveness with men with intellectual or other developmental disabilities.
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3. Plumb AM, Wetherby AM. {{Vocalization Development in Toddlers with Autism Spectrum Disorder}}. {Journal of speech, language, and hearing research : JSLHR}. 2012 Dec 28.
PURPOSE: To examine the vocalizations of children with autism spectrum disorder (ASD) in the second year of life and their relationship to other areas of development. METHOD: Vocalizations were examined in 125 children between 18 and 24 months of age: 50 later diagnosed with ASD; 25 with developmental delays (DD) in which ASD was ruled out; and 50 with typical development (TD). Precise measures of vocalizations were obtained through coding of video-recorded Behavior Samples from the Communication and Symbolic Behavior Scales Developmental Profile. RESULTS: The ASD group used a significantly lower proportion of vocalizations with speech sounds and a significantly higher proportion of atypical vocalizations than children with TD. The ASD group used a significantly higher proportion of distress vocalizations than the TD and DD groups. For the ASD group, the frequency of vocalizations with speech sounds correlated significantly with developmental levels both concurrently and predictively. In the ASD group, communicative vocalizations late in the second year were found to uniquely predict expressive language outcome at age 3 above noncommunicative vocalizations. CONCLUSIONS: Further examination of distress vocalizations as a potential early indicator of ASD is recommended. In addition, the importance of early communicative vocalizations for later language development is highlighted.
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4. Samadi SA, McConkey R. {{The impact on Iranian mothers and fathers who have children with an autism spectrum disorder}}. {J Intellect Disabil Res}. 2012 Dec 28.
BACKGROUND: To date, most research with families who have a child with autism spectrum disorder (ASD) has been undertaken in English-speaking countries. Increased levels of stress allied with poorer health have been commonly reported for mothers, with less attention paid to fathers. This study aimed to document the personal impact on Iranian mothers and fathers and identify the correlates of increased stress and poorer emotional well-being. METHOD: In all, 103 parents (58 mothers and 45 fathers) from 74 families who had a child with ASD volunteered to take part in the study. Each participant completed through interview, standardised rating scales of parenting stress, emotional well-being and family functioning as well as rating their child’s autistic symptoms, including stereotyped behaviours. RESULTS: Mothers had significantly higher scores than fathers on measures of stress and emotional well-being. Although these variables were highly correlated, binary logistic regression identified that the poorer health was also associated with lower educational levels of the parents, more behavioural problems with the child and fewer autistic symptoms overall. A similar regression analysis of stress scores identified no gender differences but found that lower stress was associated with mothers and fathers who were joint caregivers and when the family lived with relatives. CONCLUSIONS: Iranian parents experience broadly similar responses to parents in other countries, which suggests that the impact of ASD outweighs any cultural differences that might otherwise be present in parental responses to caring for children. In common with families internationally, these parents are likely to benefit from opportunities to become better informed about ASD and the management of their child at home allied with increased support from families and friends.
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5. Stamou M, Streifel KM, Goines PE, Lein PJ. {{Neuronal connectivity as a convergent target of gene-environment interactions that confer risk for Autism Spectrum Disorders}}. {Neurotoxicology and teratology}. 2012 Dec 23.
Evidence implicates environmental factors in the pathogenesis of Autism Spectrum Disorders (ASD). However, the identity of specific environmental chemicals that influence ASD risk, severity or treatment outcome remains elusive. The impact of any given environmental exposure likely varies across a population according to individual genetic substrates, and this increases the difficulty of identifying clear associations between exposure and ASD diagnoses. Heritable genetic vulnerabilities may amplify adverse effects triggered by environmental exposures if genetic and environmental factors converge to dysregulate the same signaling systems at critical times of development. Thus, one strategy for identifying environmental risk factors for ASD is to screen for environmental factors that modulate the same signaling pathways as ASD susceptibility genes. Recent advances in defining the molecular and cellular pathology of ASD point to altered patterns of neuronal connectivity in the developing brain as the neurobiological basis of these disorders. Studies of syndromic ASD and rare highly penetrant mutations or CNVs in ASD suggest that ASD risk genes converge on several major signaling pathways linked to altered neuronal connectivity in the developing brain. This review briefly summarizes the evidence implicating dysfunctional signaling via Ca(2+)-dependent mechanisms, extracellular signal-regulated kinases (ERK)/phosphatidylinositol-3-kinases (PI3K) and neuroligin-neurexin-SHANK as convergent molecular mechanisms in ASD, and then discusses examples of environmental chemicals for which there is emerging evidence of their potential to interfere with normal neuronal connectivity via perturbation of these signaling pathways.