1. Dhillon S, Hellings JA, Butler MG. {{Genetics and mitochondrial abnormalities in autism spectrum disorders: a review}}. {Curr Genomics};2011 (Aug);12(5):322-332.
We review the current status of the role and function of the mitochondrial DNA (mtDNA) in the etiology of autism spectrum disorders (ASD) and the interaction of nuclear and mitochondrial genes. High lactate levels reported in about one in five children with ASD may indicate involvement of the mitochondria in energy metabolism and brain development. Mitochondrial disturbances include depletion, decreased quantity or mutations of mtDNA producing defects in biochemical reactions within the mitochondria. A subset of individuals with ASD manifests copy number variation or small DNA deletions/duplications, but fewer than 20 percent are diagnosed with a single gene condition such as fragile X syndrome. The remaining individuals with ASD have chromosomal abnormalities (e.g., 15q11-q13 duplications), other genetic or multigenic causes or epigenetic defects. Next generation DNA sequencing techniques will enable better characterization of genetic and molecular anomalies in ASD, including defects in the mitochondrial genome particularly in younger children.
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2. Felce D, Kerr M. {{Investigating low adaptive behaviour and presence of the triad of impairments characteristic of autistic spectrum disorder as indicators of risk for challenging behaviour among adults with intellectual disabilities}}. {J Intellect Disabil Res};2012 (Feb 1)
Background Identification of possible personal indicators of risk for challenging behaviour has generally been through association in cross-sectional prevalence studies, but few analyses have controlled for intercorrelation between potential risk factors. The aim was to investigate the extent to which gender, age, presence of the triad of impairments characteristic of autism and level of adaptive behaviour were independently associated with level of challenging behaviour among adults with intellectual disabilities. Methods Five datasets were merged to produce information on challenging behaviour, adaptive behaviour, presence of the triad of impairments, gender and age of 818 adults. Variables were entered into a multivariate linear regression, which also tested the interaction between the presence of the triad of impairments and level of adaptive behaviour. Results Presence of the triad of impairments, level of adaptive behaviour, their interaction, and age, but not gender, significantly and independently contributed to the prediction of challenging behaviour. Presence/absence of the triad of impairments moderated the effect of adaptive behaviour on challenging behaviour. The inverse relationship found in the absence of the triad of impairments was virtually removed when present. Conclusions This study has shown that it is necessary to control for intercorrelation between potential risk factors for challenging behaviour and to explore how interaction between them might moderate associations.
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3. Goodman SJ, Glenwick DS. {{Correlates of Attachment Perceptions in Parents of Children with Autism Spectrum Disorders}}. {J Autism Dev Disord};2012 (Feb 2)
This study explored the relationship between parents’ perceptions of their child’s attachment to them and parents’ own affective attachment to their child, as well the relationship of these constructs to parenting stress, parent-rated child functional impairment, and parenting sense of competence. Mothers (n = 76) and fathers (n = 30) of children ages 2-10 with autism spectrum disorders participated. Overall, parents’ affective attachment to their child was more consistently related to other aspects of their parenting experiences than were their perceptions of their child’s attachment to them. Also, perceptions of child-to-parent attachment were related to other aspects of parenting for fathers more than for mothers. Implications for parenting interventions and future research, such as longitudinal investigations, are discussed.
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4. Lanter E, Watson LR, Erickson KA, Freeman D. {{Emergent Literacy in Children with Autism: An Exploration of Developmental and Contextual Dynamic Processes}}. {Lang Speech Hear Serv Sch};2012 (Feb 2)
PURPOSE: This investigation described emergent literacy skills, print motivation, and home literacy environments in a linguistically diverse group of children with autism spectrum disorders (ASD). METHOD: Emergent literacy skills were directly assessed in 41 children between the ages of 4 and 8 years. Parent report further investigated the sample’s emergent literacy skills, as well as their print motivation and home literacy environments. The achievements of children with differential language abilities were compared, and associations among the children’s language and emergent literacy abilities were explored. RESULTS: Narrowly, children with typical language achieved significantly higher scores on an emergent literacy composite than those with mild-moderate or severe language impairments; broadly, these scores were highly correlated (rho = .56) with the children’s language. Skill performance was varied but characterized by relative strengths in discrete skills, such as letter name identification, and weaknesses in more holistic skills, such as print functions. Parents generally described the children as motivated by print materials and the home environments as offering high levels of parent-child engagement in literacy activities. CONCLUSIONS: Profiles were associated with language and illustrated by heterogeneity with potentially unequal achievements between code and meaning based skills. Implications for speech-language pathologists and other educators are provided.
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5. Mockett M, Khan J, Theodosiou L. {{Parental perceptions of a manchester service for autistic spectrum disorders}}. {Int J Family Med};2011;2011:601979.
Background. User feedback is now an integral part of both clinical governance and service development, and it also provides a key route to engaging parents and children. Autistic spectrum disorders (ASDs) can impact on all members of a family, and close working between parents and professionals is essential. Aim. To explore parental satisfaction rates and identify areas in need of improvement. Method. A postal survey was completed by parents whose children had been diagnosed with an ASD in the past 18 months in a Manchester Child and Adolescent Mental Health Service. The National Autism Plan for Children was used as a gold standard. Results. Parents were particularly satisfied with the way team members dealt with them and their children during appointments. However, the standard of written information provided about the condition, diagnosis, and support available could be improved. The findings show the benefits of receiving a diagnosis in the recommended timeframe. Discussion. We discuss ways of effectively using scarce resources.
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6. Sasaki R, Uchiyama H, Okamoto T, Fukada K, Ogiuchi H, Ando T. {{A toothbrush impalement injury of the floor of mouth in autism child}}. {Dent Traumatol};2012 (Feb 2)
Abstract – Penetrating injuries in the oral cavity are common in children. However, penetrating injuries with retained foreign bodies are rare. We report a case of a toothbrush impalement injury of the floor of the mouth in a child with autism. A 5-year-old boy with autism presented with an accidentally impaled toothbrush in the oral cavity. He was taken to the operation room and examined under general anesthesia. The handle of the toothbrush was cut off using rib scissors for mask ventilation, and intra-oral intubation was performed. The toothbrush was located approximately 2.5 cm into the floor of the mouth. The toothbrush was removed uneventfully. Intravenous antibiotic therapy was instituted during hospitalization, and discharge from the hospital occurred 4 days after the operation.
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7. Scheeren AM, Koot HM, Begeer S. {{Social Interaction Style of Children and Adolescents with High-Functioning Autism Spectrum Disorder}}. {J Autism Dev Disord};2012 (Feb 1)
Qualitative differences in social interaction style exist within the autism spectrum. In this study we examined whether these differences are associated with (1) the severity of autistic symptoms and comorbid disruptive behavior problems, (2) the child’s psycho-social health, and (3) executive functioning and perspective taking skills. The social interaction style of 156 children and adolescents (6-19 years) with high-functioning autism spectrum disorder (HFASD) was determined with the Wing Subgroups Questionnaire. An active-but-odd social interaction style was positively associated with symptoms of autism, attention deficit and hyperactivity. Furthermore, an active-but-odd social interaction style was negatively associated with children’s psycho-social health and positively with executive functioning problems. Social interaction style explains part of the heterogeneity among children with HFASD.
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8. Shooshtari S, Martens PJ, Burchill CA, Dik N, Naghipur S. {{Prevalence of Depression and Dementia among Adults with Developmental Disabilities in Manitoba, Canada}}. {Int J Family Med};2011;2011:319574.
Study Objective. To estimate and compare the prevalence of dementia and depression among adults with and without developmental disabilities (DDs). Methods. We linked data from several provincial administrative databases to identify persons with DDs. We matched cases with DD with persons without DD as to sex, age, and place of residence. We estimated the prevalence of dementia and depression and compared the two groups using the Generalized Estimating Equations (GEEs) technique. Results. The estimated prevalence of depression and dementia among younger adults (20-54) and older adults (50+) with DD was significantly higher than the estimated rates for the matched non-DD group (Depression: younger adults: RR = 2.96 (95% CI 2.59-3.39); older adults: RR = 2.65 (95% CI 1.84-3.81)), (Dementia: younger adults: RR = 4.01 (95% CI 2.72-5.92); older adults: RR = 4.80 (95% CI 2.48-9.31)). Conclusion. Significant disparities exist in mental health between persons with and without DDs.
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9. Taylor LJ, Maybery MT, Whitehouse AJ. {{Do Children with Specific Language Impairment have a Cognitive Profile Reminiscent of Autism? A Review of the Literature}}. {J Autism Dev Disord};2012 (Feb 2)
There is debate regarding the relationship between autism and specific language impairment (SLI), with some researchers proposing aetiological overlap between the conditions and others maintaining their aetiological distinction. Although considerable research has investigated the language phenotypes of these disorders, the relationship between the cognitive phenotypes has been left relatively unexplored. This paper reviews relevant literature on whether individuals with SLI exhibit cognitive characteristics reminiscent of autism. Overall, findings are inconsistent and there is a lack of substantive evidence supporting overlapping cognitive phenotypes in autism and SLI. Better powered and more rigorous experimental designs, as well as studies directly comparing the cognitive phenotype of children with SLI and those with autism will further elucidate the aetiological relationship between these two conditions.
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10. Williams DM, Bowler DM, Jarrold C. {{Inner speech is used to mediate short-term memory, but not planning, among intellectually high-functioning adults with autism spectrum disorder}}. {Dev Psychopathol};2012 (Feb);24(1):225-239.
Evidence regarding the use of inner speech by individuals with autism spectrum disorder (ASD) is equivocal. To clarify this issue, the current study employed multiple techniques and tasks used across several previous studies. In Experiment 1, participants with and without ASD showed highly similar patterns and levels of serial recall for visually presented stimuli. Both groups were significantly affected by the phonological similarity of items to be recalled, indicating that visual material was spontaneously recoded into a verbal form. Confirming that short-term memory is typically verbally mediated among the majority of people with ASD, recall performance among both groups declined substantially when inner speech use was prevented by the imposition of articulatory suppression during the presentation of stimuli. In Experiment 2, planning performance on a tower of London task was substantially detrimentally affected by articulatory suppression among comparison participants, but not among participants with ASD. This suggests that planning is not verbally mediated in ASD. It is important that the extent to which articulatory suppression affected planning among participants with ASD was uniquely associated with the degree of their observed and self-reported communication impairments. This confirms a link between interpersonal communication with others and intrapersonal communication with self as a means of higher order problem solving.
