1. Bonis SA. {{Contentment in « Songs of the Gorilla Nation: My Journey through Autism »: A Humanbecoming Hermeneutic Study}}. {ANS Adv Nurs Sci};2012 (Jul);35(3):273-283.
This article is an example of the use of narrative in the form of a memoir to explore the humanly lived experience of contentment. The humanbecoming school of thought provided a philosophical foundation and theoretical framework for this hermeneutic interpretation of Dawn Prince-Hughes’ published memoir, « Songs of the Gorilla Nation: My Journey through Autism. » The findings-contentment is enduring serenity unfolding with inspiring unburdening as cherished convictions arise amid disharmony answer the research question: what is contentment as humanly lived? This study enhances knowledge about contentment as quality of life.
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2. Eran A, Li JB, Vatalaro K, McCarthy J, Rahimov F, Collins C, Markianos K, Margulies DM, Brown EN, Calvo SE, Kohane IS, Kunkel LM. {{Comparative RNA editing in autistic and neurotypical cerebella}}. {Mol Psychiatry};2012 (Aug 7)
Adenosine-to-inosine (A-to-I) RNA editing is a neurodevelopmentally regulated epigenetic modification shown to modulate complex behavior in animals. Little is known about human A-to-I editing, but it is thought to constitute one of many molecular mechanisms connecting environmental stimuli and behavioral outputs. Thus, comprehensive exploration of A-to-I RNA editing in human brains may shed light on gene-environment interactions underlying complex behavior in health and disease. Synaptic function is a main target of A-to-I editing, which can selectively recode key amino acids in synaptic genes, directly altering synaptic strength and duration in response to environmental signals. Here, we performed a high-resolution survey of synaptic A-to-I RNA editing in a human population, and examined how it varies in autism, a neurodevelopmental disorder in which synaptic abnormalities are a common finding. Using ultra-deep (>1000 x ) sequencing, we quantified the levels of A-to-I editing of 10 synaptic genes in postmortem cerebella from 14 neurotypical and 11 autistic individuals. A high dynamic range of editing levels was detected across individuals and editing sites, from 99.6% to below detection limits. In most sites, the extreme ends of the population editing distributions were individuals with autism. Editing was correlated with isoform usage, clusters of correlated sites were identified, and differential editing patterns examined. Finally, a dysfunctional form of the editing enzyme adenosine deaminase acting on RNA B1 was found more commonly in postmortem cerebella from individuals with autism. These results provide a population-level, high-resolution view of A-to-I RNA editing in human cerebella and suggest that A-to-I editing of synaptic genes may be informative for assessing the epigenetic risk for autism.Molecular Psychiatry advance online publication, 7 August 2012; doi:10.1038/mp.2012.118.
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3. Grandgeorge M, Tordjman S, Lazartigues A, Lemonnier E, Deleau M, Hausberger M. {{Does pet arrival trigger prosocial behaviors in individuals with autism?}}. {PLoS One};2012;7(8):e41739.
Alteration of social interactions especially prosocial behaviors – an important aspect of development – is one of the characteristics of autistic disorders. Numerous strategies or therapies are used to improve communication skills or at least to reduce social impairments. Animal-assisted therapies are used widely but their relevant benefits have never been scientifically evaluated. In the present study, we evaluated the association between the presence or the arrival of pets in families with an individual with autism and the changes in his or her prosocial behaviors. Of 260 individuals with autism – on the basis of presence or absence of pets – two groups of 12 individuals and two groups of 8 individuals were assigned to: study 1 (pet arrival after age of 5 versus no pet) and study 2 (pet versus no pet), respectively. Evaluation of social impairment was assessed at two time periods using the 36-items ADI-R algorithm and a parental questionnaire about their child-pet relationships. The results showed that 2 of the 36 items changed positively between the age of 4 to 5 (t(0)) and time of assessment (t(1)) in the pet arrival group (study 1): « offering to share » and « offering comfort ». Interestingly, these two items reflect prosocial behaviors. There seemed to be no significant changes in any item for the three other groups. The interactions between individuals with autism and their pets were more – qualitatively and quantitatively – reported in the situation of pet arrival than pet presence since birth. These findings open further lines of research on the impact of pet’s presence or arrival in families with an individual with autism. Given the potential ability of individuals with autism to develop prosocial behaviors, related studies are needed to better understand the mechanisms involved in the development of such child-pet relationship.
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4. Hartley SL, Barker ET, Baker JK, Seltzer MM, Greenberg JS. {{Marital Satisfaction and Life Circumstances of Grown Children With Autism Across 7 Years}}. {J Fam Psychol};2012 (Aug 6)
We examined the extent to which marital satisfaction across 7 years in 199 mothers was associated with the characteristics (gender, age, and intellectual disability status) of their adolescent or adult child with an autism spectrum disorder (ASD) and whether fluctuations in marital satisfaction covaried with the child’s autism symptoms, health, behavior problems, and closeness in the parent-child relationship. We also examined the impact of the departure of the adult child out of the family home on mothers’ marital satisfaction. The effect of family context variables including the presence of an additional child with a disability, maternal education, and household income on marital satisfaction were also examined. We found that closeness in the mother-child relationship and household income had a significant effect on level of marital satisfaction, and that variability in the slope of mothers’ marital satisfaction was significantly predicted by fluctuations in the behavior problems of the adolescent or adult child with an ASD. The grown child’s departure out of the family home was not related to change in marital satisfaction. Interventions aimed at managing the behavior problems of adolescents and adults with ASDs may help strengthen parents’ marital relationship. (PsycINFO Database Record (c) 2012 APA, all rights reserved).
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5. Karst JS, Van Hecke AV. {{Parent and Family Impact of Autism Spectrum Disorders: A Review and Proposed Model for Intervention Evaluation}}. {Clin Child Fam Psychol Rev};2012 (Aug 7)
Raising a child with an autism spectrum disorder (ASD) can be an overwhelming experience for parents and families. The pervasive and severe deficits often present in children with ASD are associated with a plethora of difficulties in caregivers, including decreased parenting efficacy, increased parenting stress, and an increase in mental and physical health problems compared with parents of both typically developing children and children with other developmental disorders. In addition to significant financial strain and time pressures, high rates of divorce and lower overall family well-being highlight the burden that having a child with an ASD can place on families. These parent and family effects reciprocally and negatively impact the diagnosed child and can even serve to diminish the positive effects of intervention. However, most interventions for ASD are evaluated only in terms of child outcomes, ignoring parent and family factors that may have an influence on both the immediate and long-term effects of therapy. It cannot be assumed that even significant improvements in the diagnosed child will ameliorate the parent and family distress already present, especially as the time and expense of intervention can add further family disruption. Thus, a new model of intervention evaluation is proposed, which incorporates these factors and better captures the transactional nature of these relationships.
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6. Maortua H, Martinez-Bouzas C, Calvo MT, Domingo MR, Ramos F, Garcia-Ribes A, Martinez MJ, Lopez-Ariztegui MA, Puente N, Rubio I, Tejada MI. {{CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain}}. {BMC Med Genet};2012 (Aug 6);13(1):68.
ABSTRACT: BACKGROUND: Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) located in the Xp22 region have been shown to cause a subset of atypical Rett syndrome with infantile spasms or early seizures starting in the first postnatal months. METHODS: We performed mutation screening of CDKL5 in 60 female patients who had been identified as negative for the methyl CpG-binding protein 2 gene (MECP2) mutations, but who had current or past epilepsy, regardless of the age of onset, type, and severity. All the exons in the CDKL5 gene and their neighbouring sequences were examined, and CDKL5 rearrangements were studied by multiplex ligation-dependent probe amplification (MLPA). RESULTS: Six previously unidentified DNA changes were detected, two of which were disease-causing mutations in the catalytic domain: a frameshift mutation (c.509_510insGT; p.Glu170GlyfsX36) and a complete deletion of exon 10. Both were found in patients with seizures that started in the first month of life. CONCLUSIONS: This study demonstrated the importance of CDKL5 mutations as etiological factors in neurodevelopmental disorders, and indicated that a thorough analysis of the CDKL5 gene sequence and its rearrangements should be considered in females with Rett syndrome-like phenotypes, severe encephalopathy and epilepsy with onset before 5 months of age. This study also confirmed the usefulness of MLPA as a diagnostic screening method for use in clinical practice.
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7. Rehm RS, Fuentes-Afflick E, Fisher LT, Chesla CA. {{Parent and youth priorities during the transition to adulthood for youth with special health care needs and developmental disability}}. {ANS Adv Nurs Sci};2012 (Jul);35(3):E57-72.
Families undertake extensive planning during transition to adulthood so youth with concomitant special health care needs and developmental disabilities will have a long-term high quality of life. Findings from an interpretive field study involving 64 youth and their parents indicated that the meaning of adulthood was functioning as independently as possible with appropriate supports. Parental priorities included protecting health, assuring safety and security in multiple realms, finding meaningful activities after high school, and establishing supportive social relationships. These priorities demonstrated the need to broaden usual health care transition goals that focus on finding adult providers and optimizing self-management.
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8. Sasson NJ, Dichter GS, Bodfish JW. {{Affective responses by adults with autism are reduced to social images but elevated to images related to circumscribed interests}}. {PLoS One};2012;7(8):e42457.
Individuals with autism spectrum disorders (ASD) demonstrate increased visual attention and elevated brain reward circuitry responses to images related to circumscribed interests (CI), suggesting that a heightened affective response to CI may underlie their disproportionate salience and reward value in ASD. To determine if individuals with ASD differ from typically developing (TD) adults in their subjective emotional experience of CI object images, non-CI object images and social images, 213 TD adults and 56 adults with ASD provided arousal ratings (sensation of being energized varying along a dimension from calm to excited) and valence ratings (emotionality varying along dimension of approach to withdrawal) for a series of 114 images derived from previous research on CI. The groups did not differ on arousal ratings for any image type, but ASD adults provided higher valence ratings than TD adults for CI-related images, and lower valence ratings for social images. Even after co-varying the effects of sex, the ASD group, but not the TD group, gave higher valence ratings to CI images than social images. These findings provide additional evidence that ASD is characterized by a preference for certain categories of non-social objects and a reduced preference for social stimuli, and support the dissemination of this image set for examining aspects of the circumscribed interest phenotype in ASD.
