1. Alderson-Day B, McGonigle-Chalmers M. {{Is It a Bird? Is It a Plane? Category Use in Problem-solving in Children with Autism Spectrum Disorders}}. {J Autism Dev Disord} (Jul 30)
Fourteen children with autism spectrum disorders (ASD) and fourteen age-matched typically-developing (TD) controls were tested on an adapted version of the Twenty Questions Task (Mosher and Hornsby in Studies in cognitive growth. Wiley, New York, pp 86-102, 1966) to examine effects of content, executive and verbal IQ factors on category use in problem-solving (age range 8-17). Across conditions participants with ASD asked questions that focussed on smaller categories than controls. Specific group differences were observed in the handling of abstract content and response to additional working memory demands. In addition, post hoc regression analysis indicated that VIQ predicted performance in ASD but not TD participants. The implications for theories of category processing in autism are discussed.
2. Al-Eithan MH, Balkhi SH, Al-Bluwi AM. {{Autism and parents’ education. New data from the developing world}}. {Neurosciences (Riyadh)} (Apr);15(2):97-100.
OBJECTIVES: To investigate the link between autism disorders and engineering training of parents. METHODS: All Autistic-Pervasive Developmental Disorders (PDD) children that were diagnosed on the bases of the Diagnostic and Statistical Manual for Mental Disorders (DSM-IV), and met the required criteria for autism, over a defined period (March 2006 to June 2007) were included. We then took all non-PDD developmental disorders cases seen during the same time frame as the autistic children as a control; these included speech delay, mental retardation, and Down’s syndrome. Our data covered demographic data, parents and grandparents’ education, and profession. Parents’ education/professions were classified into 2 groups only, 1-engineering or mathematician; and 2-humanities, neither engineering nor math. The children were divided into 2 groups, autism (57 cases), and developmental disorders (40 cases). RESULTS: Regarding the main question of this study (hypothesized engineering link), the data showed some differences between the 2 groups (x2 = 2.503, degrees of freedom [df] = 1; p = 0.093), but not of major significance. There was no significant difference (x2 = 0.370; df = 2; p = 0.831) between the 2 groups on the variable of consanguinity. CONCLUSION: We have found that the Saudi Arabian sample, though relatively small, has considerable similarities with both the UK and USA data. There is a possibility of an association between autism and the engineering/math training of fathers. The implication is briefly discussed.
3. Devillard F, Guinchat V, Moreno-De-Luca D, Tabet AC, Gruchy N, Guillem P, Nguyen Morel MA, Leporrier N, Leboyer M, Jouk PS, Lespinasse J, Betancur C. {{Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism}}. {Am J Med Genet A} (Aug 3)
We describe a patient with autism and a paracentric inversion of chromosome 2q14.2q37.3, with a concurrent duplication of the proximal breakpoint at 2q14.1q14.2 and a deletion of the distal breakpoint at 2q37.3. The abnormality was derived from his mother with a balanced paracentric inversion. The inversion in the child appeared to be cytogenetically balanced but subtelomere FISH revealed a cryptic deletion at the 2q37.3 breakpoint. High-resolution single nucleotide polymorphism array confirmed the presence of a 3.5 Mb deletion that extended to the telomere, and showed a 4.2 Mb duplication at 2q14.1q14.2. FISH studies using a 2q14.2 probe showed that the duplicated segment was located at the telomeric end of chromosome 2q. This recombinant probably resulted from breakage of a dicentric chromosome. The child had autism, mental retardation, speech and language delay, hyperactivity, growth retardation with growth hormone deficiency, insulin-dependent diabetes, and mild facial dysmorphism. Most of these features have been previously described in individuals with simple terminal deletion of 2q37. Pure duplications of the proximal chromosome 2q are rare and no specific syndrome has been defined yet, so the contribution of the 2q14.1q14.2 duplication to the phenotype of the patient is unknown. These findings underscore the need to explore apparently balanced chromosomal rearrangements inherited from a phenotypically normal parent in subjects with autism and/or developmental delay. In addition, they provide further evidence indicating that chromosome 2q terminal deletions are among the most frequently reported cytogenetic abnormalities in individuals with autism. (c) 2010 Wiley-Liss, Inc.
4. Jepson B, Granpeesheh D, Tarbox J, Olive ML, Stott C, Braud S, Yoo JH, Wakefield A, Allen MS. {{Controlled Evaluation of the Effects of Hyperbaric Oxygen Therapy on the Behavior of 16 Children with Autism Spectrum Disorders}}. {J Autism Dev Disord} (Aug 3)
Hyperbaric oxygen therapy (HBOT) has been used to treat individuals with autism. However, few studies of its effectiveness have been completed. The current study examined the effects of 40 HBOT sessions at 24% oxygen at 1.3 ATA on 11 topographies of directly observed behavior. Five replications of multiple baselines were completed across a total of 16 participants with autism spectrum disorders. No consistent effects were observed across any group or within any individual participant, demonstrating that HBOT was not an effective treatment for the participants in this study. This study represents the first relatively large-scale controlled study evaluating the effects of HBOT at the level of the individual participant, on a wide array of behaviors.
5. Mandell DS, Morales KH, Xie M, Lawer LJ, Stahmer AC, Marcus SC. {{Age of diagnosis among medicaid-enrolled children with autism, 2001-2004}}. {Psychiatr Serv} (Aug);61(8):822-829.
6. Morgan JT, Chana G, Pardo CA, Achim C, Semendeferi K, Buckwalter J, Courchesne E, Everall IP. {{Microglial activation and increased microglial density observed in the dorsolateral prefrontal cortex in autism}}. {Biol Psychiatry} (Aug 15);68(4):368-376.
BACKGROUND: In the neurodevelopmental disorder autism, several neuroimmune abnormalities have been reported. However, it is unknown whether microglial somal volume or density are altered in the cortex and whether any alteration is associated with age or other potential covariates. METHODS: Microglia in sections from the dorsolateral prefrontal cortex of nonmacrencephalic male cases with autism (n = 13) and control cases (n = 9) were visualized via ionized calcium binding adapter molecule 1 immunohistochemistry. In addition to a neuropathological assessment, microglial cell density was stereologically estimated via optical fractionator and average somal volume was quantified via isotropic nucleator. RESULTS: Microglia appeared markedly activated in 5 of 13 cases with autism, including 2 of 3 under age 6, and marginally activated in an additional 4 of 13 cases. Morphological alterations included somal enlargement, process retraction and thickening, and extension of filopodia from processes. Average microglial somal volume was significantly increased in white matter (p = .013), with a trend in gray matter (p = .098). Microglial cell density was increased in gray matter (p = .002). Seizure history did not influence any activation measure. CONCLUSIONS: The activation profile described represents a neuropathological alteration in a sizeable fraction of cases with autism. Given its early presence, microglial activation may play a central role in the pathogenesis of autism in a substantial proportion of patients. Alternatively, activation may represent a response of the innate neuroimmune system to synaptic, neuronal, or neuronal network disturbances, or reflect genetic and/or environmental abnormalities impacting multiple cellular populations.
7. Rada RE. {{Controversial issues in treating the dental patient with autism}}. {J Am Dent Assoc} (Aug);141(8):947-953.
BACKGROUND: The author conducted a literature review to investigate concerns that parents of a child with an autism spectrum disorder may have when oral health care is provided to the child. TYPES OF STUDIES REVIEWED: The author conducted a search of PubMed using the terms « mercury, » « fluoride, » « nitrous oxide, » « antibiotics, » « gluten, » « casein, » « acetaminophen » and « dentistry » each with the term « autism. » He identified controlled studies and literature reviews in both medical and alternative medical literature that were related to areas of importance to oral health care workers. The use of mercury, fluoride, nitrous oxide, antibiotic agents and acetaminophen all are sources of controversy between dentistry and the parents of children who have autism. RESULTS: The author found that patients who have autism frequently also have allergies, immune system problems, gastrointestinal disturbances and seizures. Dental health care workers must be aware of these comorbid conditions so they can provide optimal care to the children with autism spectrum disorders. The author found two distinct theories as to what causes autism: one that focuses on genetic causes, and one that focuses on the impact of the environment. He found that the interpretation of these theories might affect parents’ concerns about various dental treatments. CLINICAL IMPLICATIONS: Dentists treating patients who have autism may need to provide more than standard patient care, as the use of time-tested dental treatment and prevention modalities may be questioned or refused by parents.
8. Riches NG, Loucas T, Baird G, Charman T, Simonoff E. {{Non-word repetition in adolescents with Specific Language Impairment and Autism plus Language Impairments: A qualitative analysis}}. {J Commun Disord} (Jul 8)
Non-word repetition (NWR) was investigated in adolescents with typical development, Specific Language Impairment (SLI) and Autism Plus language Impairment (ALI) (n=17, 13, 16, and mean age 14;4, 15;4, 14;8 respectively). The study evaluated the hypothesis that poor NWR performance in both groups indicates an overlapping language phenotype (Kjelgaard & Tager-Flusberg, 2001). Performance was investigated both quantitatively, e.g. overall error rates, and qualitatively, e.g. effect of length on repetition, proportion of errors affecting phonological structure, and proportion of consonant substitutions involving manner changes. Findings were consistent with previous research (Whitehouse, Barry, & Bishop, 2008) demonstrating a greater effect of length in the SLI group than the ALI group, which may be due to greater short-term memory limitations. In addition, an automated count of phoneme errors identified poorer performance in the SLI group than the ALI group. These findings indicate differences in the language profiles of individuals with SLI and ALI, but do not rule out a partial overlap. Errors affecting phonological structure were relatively frequent, accounting for around 40% of phonemic errors, but less frequent than straight Consonant-for-Consonant or vowel-for-vowel substitutions. It is proposed that these two different types of errors may reflect separate contributory mechanisms. Around 50% of consonant substitutions in the clinical groups involved manner changes, suggesting poor auditory-perceptual encoding. From a clinical perspective algorithms which automatically count phoneme errors may enhance sensitivity of NWR as a diagnostic marker of language impairment. Learning outcomes: Readers will be able to (1) describe and evaluate the hypothesis that there is a phenotypic overlap between SLI and Autism Spectrum Disorders (2) describe differences in the NWR performance of adolescents with SLI and ALI, and discuss whether these differences support or refute the phenotypic overlap hypothesis, and (3) understand how computational algorithms such as the Levenshtein Distance may be used to analyse NWR data.
9. Rotheram-Fuller E, Kasari C, Chamberlain B, Locke J. {{Social involvement of children with autism spectrum disorders in elementary school classrooms}}. {J Child Psychol Psychiatry} (Jul 28)
Background: Children with autism spectrum disorders (ASD) are increasingly included in general education classrooms in an effort to improve their social involvement. Methods: Seventy-nine children with ASD and 79 randomly selected, gender-matched peers (88.6% male) in 75 early (K-1), middle (2nd-3rd), and late (4th-5th) elementary classrooms across 30 schools completed social network surveys examining each child’s reciprocal friendships, peer rejection, acceptance, and social involvement. Results: Across grade levels, peers less frequently reciprocated friendships with children with ASD than students in the matched sample. While children with ASD were not more likely to be rejected by peers, they were less accepted and had fewer reciprocal friendships than matched peers at each grade level. Although 48.1% of children with ASD were involved in the social networks of their classrooms, children with ASD were more likely to be isolated or peripheral to social relationships within the classroom across all grade levels, and this difference is even more dramatic in later elementary grades. Conclusions: In inclusive classrooms, children with ASD are only involved in peers’ social relationships about half of the time, and appear to be even less connected with increasing grade level. Promoting children with ASD’s skills in popular activities to share with peers in early childhood may be a key preventive intervention to protect social relationships in late elementary school grades.
10. Walsh P. {{Asperger syndrome and the supposed obligation not to bring disabled lives into the world}}. {J Med Ethics} (Jul 31)
Asperger syndrome (AS) is an autistic spectrum condition that shares the range of social impairments associated with classic autism widely regarded as disabling, while also often giving rise to high levels of ability in areas such as maths, science, engineering and music. The nature of this striking duality of disability and ability is examined, along with its implications for our thinking about disability and the relevance of levels and kinds of disability to reproductive choices. In particular, it may be seen as posing a challenge to John Harris’s influential position in reproductive ethics relating to disability. The paper argues that if, as Harris maintains, there is a quite general moral obligation to avoid bringing disabled lives into the world regardless of the level of disability, then AS must be seen as having a strong claim to be exempt from such an obligation. However, a broader critique of Harris’s position leads to the conclusion that, in fact, this putative obligation does not exist.
