1. Chen CP, Lin SP, Chern SR, Tsai FJ, Wu PC, Lee CC, Chen YT, Chen WL, Wang W. {{A de novo 7.9 Mb deletion in 22q13.2–>qter in a boy with autistic features, epilepsy, developmental delay, atopic dermatitis and abnormal immunological findings}}. {Eur J Med Genet} (Jun 8)
2. Igwe MN, Bakare MO, Agomoh AO, Onyeama GM, Okonkwo KO. {{Factors influencing knowledge about childhood autism among final year undergraduate Medical, Nursing and Psychology students of University of Nigeria, Enugu State, Nigeria}}. {Ital J Pediatr} (Jun 13);36(1):44.
ABSTRACT: BACKGROUND: Knowledge and awareness about childhood autism is low among health care workers and the general populace in Nigeria. Poor knowledge about childhood autism among final year medical, nursing and psychology students who would form tomorrow’s child health care professionals can compromise early recognition and interventions that are known to improve prognosis in childhood autism. Educational factors that could be influencing knowledge about childhood autism among these future health care professionals are unknown. This study assessed knowledge about childhood autism among final year undergraduate medical, nursing and psychology students in south-eastern Nigeria and determined the factors that could be influencing such knowledge. METHODS: One hundred final year undergraduate students were randomly selected from each of the Departments of Medicine, Nursing Science and Psychology respectively of University of Nigeria, Enugu State, Nigeria making a sample size of three hundred. A socio-demographic questionnaire and knowledge about childhood autism among health workers (KCAHW) questionnaire were administered to the students. RESULTS: The total mean score for the three groups of students on the KCAHW questionnaire was 10.67 +/- 3.73 out of a possible total score of 19, with medical, nursing and psychology students having total mean scores of 12.24 +/- 3.24, 10.76 +/- 3.50 and 9.01 +/- 3.76 respectively. The mean scores for the three groups showed statistically significant difference for domain 1 (p = 0.000), domain 3 (p = 0.029), domain 4 (p = 0.000) and total score (p = 0.000), with medical students more likely to recognise symptoms and signs of autism compared to nursing and psychology students. The mean score in domain 2 did not show statistically significant difference among the three groups (p = 0.769). The total score on the KCAHW questionnaire is positively correlated with the number of weeks of posting in psychiatry (r = 0.319, p = 0.000) and the number of weeks of posting in paediatrics (r = 0.372, p = 0.000). The total score is also positively correlated with the number of credit hours of lectures in psychiatry/abnormal psychology (r = 0.324, p = 0.000) and the number of credit hours of lectures in paediatrics (r = 0.372, p = 0.000). The field of study also influenced knowledge about childhood autism (p = 0.000). CONCLUSION: Peculiar situation in this environment as signified by inadequate human resources needed in the area of clinical psychology training often times necessitates employing first degree graduates in psychology into clinical positions. This calls for additional exposure of the undergraduate psychology students to training curriculum aimed at improving their early recognition of symptoms of autism spectrum disorders in this environment.
3. Iseri E, Guney E, Ceylan MF, Yucel A, Aral A, Bodur S, Sener S. {{Increased Serum Levels of Epidermal Growth Factor in Children with Autism}}. {J Autism Dev Disord} (Jun 11)
The etiology of autism is unclear, however autism is considered as a multifactorial disorder that is influenced by neurological, environmental, immunological and genetic factors. Growth factors, including epidermal growth factor (EGF), play an important role in the celluler proliferation and the differentiation of the central and peripheral nervous system. In this study we hypothesized that EGF may play a role in the pathophysiology of autism and examined serum EGF levels in children with autism. We measured serum levels of EGF in the 27 autistic children and 28 age- matched normal controls. The serum levels of EGF in the subjects with autism were significantly higher than those of normal control subjects. However, there were no correlations between serum EGF levels and clinical variables in the subjects with autism. This is the first report demonstrating the increased serum levels of EGF in children with autism. This study suggests that increased levels of EGF might have an importance in the pathophysiology of autism.
4. Lee H, Marvin AR, Watson T, Piggot J, Law JK, Law PA, Constantino JN, Nelson SF. {{Accuracy of phenotyping of autistic children based on internet implemented parent report}}. {Am J Med Genet B Neuropsychiatr Genet} (Jun 15)
While strong familial evidence supports a substantial genetic contribution to the etiology of autism spectrum disorders (ASD), specific genetic abnormalities have been identified in only a small minority of all cases. In order to comprehensively delineate the genetic components of autism including the identification of rare and common variants, overall sample sizes an order of magnitude larger than those currently under study are critically needed. This will require rapid and scalable subject assessment paradigms that obviate clinic-based time-intensive behavioral phenotyping, which is a rate-limiting step. Here, we test the accuracy of a web-based approach to autism phenotyping implemented within the Interactive Autism Network (IAN). Families who were registered with the IAN and resided near one of the three study sites were eligible for the study. One hundred seven children ascertained from this pool who were verbal, age 4-17 years, and had Social Communication Questionnaire (SCQ) scores >/=12 (a profile that characterizes a majority of ASD-affected children in IAN) underwent a clinical confirmation battery. One hundred five of the 107 children were ASD positive (98%) by clinician’s best estimate. One hundred four of these individuals (99%) were ASD positive by developmental history using the Autism Diagnostic Interview-Revised (ADI-R) and 97 (93%) were positive for ASD by developmental history and direct observational assessment (Autism Diagnostic Observational Schedule or expert clinician observation). These data support the reliability and feasibility of the IAN-implemented parent-report paradigms for the ascertainment of clinical ASD for large-scale genetic research. (c) 2010 Wiley-Liss, Inc.
5. Matsuo M, Maeda T, Sasaki K, Ishii K, Hamasaki Y. {{Frequent association of autism spectrum disorder in patients with childhood onset epilepsy}}. {Brain Dev} (Jun 11)
Autism spectrum disorder (ASD) has a close relationship with epilepsy. This study retrospectively examined patients with epilepsy associated with ASD. Among the 519 patients with epilepsy, 79 patients (15.2%) had ASD. Sixty-two patients had idiopathic ASD and 17 had secondary ASD. The epilepsy patients with idiopathic ASD were retrospectively analyzed. There were 47 males and 15 females, ranging from 2 to 43years of age (median 11years). The most frequent age at the onset of seizures was 4years, and 85% occurred before 10. ASD was detected after the onset of epilepsy in 29 cases (46.8%), and eight of them had been overlooked for more than five years. Most of these were high-functioning ASD cases. The most frequent type of seizure was a complex partial seizure (CPS; 68%). Paroxysmal activities on EEG were localized in the frontal area in about half of the cases. Multiple anti-epileptic drugs were used in 33.8% cases (two in 17.7%, three in 16.1%), and 67.3% of the patients were seizure-free for more than two years. An amelioration of the autistic symptoms occurred after epilepsy treatment in five cases (8%). CPS with frontal paroxysms occurring from one to nine years of age seems to be characteristic of epilepsy associated with ASD.
6. Pijnacker J, Geurts B, van Lambalgen M, Buitelaar J, Hagoort P. {{Exceptions and anomalies: an ERP study on context sensitivity in autism}}. {Neuropsychologia} (Jun 10)
Several studies have demonstrated that people with ASD and intact language skills still have problems processing linguistic information in context. Given this evidence for reduced sensitivity to linguistic context, the question arises how contextual information is actually processed by people with ASD. In this study, we used event-related brain potentials (ERPs) to examine context sensitivity in high-functioning adults with autistic disorder (HFA) and Asperger syndrome at two levels: at the level of sentence processing and at the level of solving reasoning problems. We found that sentence context as well as reasoning context had an immediate ERP effect in adults with Asperger syndrome, as in matched controls. Both groups showed a typical N400 effect and a late positive component for the sentence conditions, and a sustained negativity for the reasoning conditions. In contrast, the HFA group demonstrated neither an N400 effect nor a sustained negativity. However, the HFA group showed a late positive component which was larger for semantically anomalous sentences than congruent sentences. Because sentence context had a modulating effect in a later phase, semantic integration is perhaps less automatic in HFA, and presumably more elaborate processes are needed to arrive at a sentence interpretation.
7. Sahyoun CP, Belliveau JW, Mody M. {{White matter integrity and pictorial reasoning in high-functioning children with autism}}. {Brain Cogn} (Jun 11)
The current study investigated the neurobiological role of white matter in visuospatial versus linguistic processing abilities in autism using diffusion tensor imaging. We examined differences in white matter integrity between high-functioning children with autism (HFA) and typically developing controls (CTRL), in relation to the groups’ response times (RT) on a pictorial reasoning task under three conditions: visuospatial, V, semantic, S, and V+S, a hybrid condition allowing language use to facilitate visuospatial transformations. Diffusion-weighted images were collected from HFA and CTRL participants, matched on age and IQ, and significance maps were computed for group differences in fractional anisotropy (FA) and in RT-FA association for each condition. Typically developing children showed increased FA within frontal white matter and the superior longitudinal fasciculus (SLF). HFA showed increased FA within peripheral white matter, including the ventral temporal lobe. Additionally, RT-FA relationships in the semantic condition (S) implicated white matter near the STG and in the SLF within the temporal and frontal lobes to a greater extent in CTRL. Performance in visuospatial reasoning (V, V+S), in comparison, was related to peripheral parietal and superior precentral white matter in HFA, but to the SLF, callosal, and frontal white matter in CTRL. Our results appear to support a preferential use of linguistically-mediated pathways in reasoning by typically developing children, whereas autistic cognition may rely more on visuospatial processing networks.
8. Self TL, Hale LS, Crumrine D. {{Pharmacotherapy and Children with Autism Spectrum Disorder: A Tutorial for Speech-Language Pathologists}}. {Lang Speech Hear Serv Sch} (Jun 11)
PURPOSE: The purpose of this tutorial is to provide Speech-Language Pathologists (SLPs) with general information regarding the most commonly prescribed medications for children with Autism Spectrum Disorder (ASD) (e.g., central nervous system stimulants, noradrenergic reuptake inhibitors, alpha-2 adrenergic agonists, antipsychotics, anticonvulsants, selective serotonin reuptake inhibitors, benzodiazepines) in regard to their mechanism of action, behaviors treated, and potential side effects. METHOD: This clinical resource was complied to support SLPs who need to understand the functions and effects of medications that have been prescribed to a child with ASD to whom they have or will be providing assessment and intervention services. CONCLUSIONS: SLPs play an important role in education, assessment, and treatment for children with ASD. Although there is no definitive cure for ASD, up to 70% of children with ASD are prescribed psychoactive medications to ameliorate disruptive behaviors associated with ASD such ashyperactivity, inattention, impulsivity, aggression, irritability, self-injury, obsessive compulsiveness, anxiety, and mood disorders. The entire healthcare team, including SLPs, should be involved in monitoring for efficacy, tolerability, and potential side effects when medications are prescribed.
9. Takumi T. {{A humanoid mouse model of autism}}. {Brain Dev} (Jun 11)
Even now fruit of the human genome project is available, we have difficulties to approach neuropsychiatric disorders at the molecular level. Autism is a complex psychiatric illness but has received considerable attention as a developmental brain disorder not only from basic researchers but also from society. Substantial evidence suggests that chromosomal abnormalities contribute to autism risk. The duplication of human chromosome 15q11-13 is known to be the most frequent cytogenetic abnormality in autism. We succeeded to generate mice with a 6.3-Mb-wide interstitial duplication in mouse chromosome 7c that is highly syntenic to human 15q11-13 by using a Cre-loxP-based chromosome-engineering technique. The only paternally duplicated mice display autistic behavioral features such as poor social interaction and stereotypical behavior, and exhibit a developmental abnormality in ultrasonic vocalizations as well as anxiety. The detailed analysis focusing on a non-coding small nucleolar RNA, MBII52, within the duplicated region, revealed that the paternally duplicated mice alter the editing ratio of serotonin (5-HT) 2c receptor pre-mRNA and intracellular calcium responses by a 5-HT2c receptor specific agonist are changed in neurons. This result may explain one of molecular mechanisms of abnormal behaviors in the paternal duplicated mice. The first chromosome-engineered mouse model for human chromosome 15q11-13 duplication fulfills not only face validity of human autistic phenotypes but also construct validity based on human chromosome abnormality. This model will be a founder mouse for forward genetics of autistic disease and an invaluable tool for its therapeutic development.
10. Tepest R, Jacobi E, Gawronski A, Krug B, Moller-Hartmann W, Lehnhardt FG, Vogeley K. {{Corpus callosum size in adults with high-functioning autism and the relevance of gender}}. {Psychiatry Res} (Jun 7)
The goal of the study was to investigate the size of the corpus callosum (CC) and its subsegments in relation to total brain volume (TBV) as an empirical indicator of impaired connectivity in autism with special respect to gender. In MRI data sets of 29 adults with high-functioning autism (HFA) and 29 age-, gender- and IQ-matched control subjects, the TBV was measured and the CC was analyzed as a whole and in subsegments employing two different manual segmentation procedures. With respect to diagnosis, there were no significant differences in the dependent variables (CC, CC subsegments, and TBV). With respect to gender, only TBV was significantly increased in males compared with females, resulting in a significantly decreased CC/TBV ratio in males. This finding, however, was independent from gender and can be fully attributed to brain size. Our findings do not support the following hypotheses: (1) a hypothesis of impaired CC in HFA adults as a subgroup of patients with autism spectrum disorders, and (2) the sexual dimorphism hypothesis of the CC.
11. Young DM, Schenk AK, Yang SB, Jan YN, Jan LY. {{Altered ultrasonic vocalizations in a tuberous sclerosis mouse model of autism}}. {Proc Natl Acad Sci U S A} (Jun 15);107(24):11074-11079.
Tuberous sclerosis (TSC) is an autosomally dominant neurocutaneous disease notable for its high comorbidity with autism in human patients. Studies of murine models of tuberous sclerosis have found defects in cognition and learning, but thus far have not uncovered deficits in social behaviors relevant to autism. To explore social communication and interaction in TSC2 heterozygous mice, we recorded ultrasonic vocalizations (USV) and found that although both wild-type (WT) and heterozygous pups born to WT dams showed similar call rates and patterns, baseline vocalization rates were elevated in pups born to heterozygous dams. Further analysis revealed several robust features of maternal potentiation in all but WT pups born to heterozygous dams. This lack of potentiation is suggestive of defects in mother-pup social interaction during or before the reunion period between WT pups and heterozygous dams. Intriguingly, male pups of both genotypes born to heterozygous dams showed particularly heightened call rates and burst patterns. Because our maternal retrieval experiments revealed that TSC2(+/-) dams exhibited improved defensive reactions against intruders and highly efficient pup retrieval performance, the alterations in their pups’ USVs and maternal potentiation do not appear to result from poor maternal care. These findings suggest that a pup’s interaction with its mother strongly influences the pup’s vocal communication, revealing an intriguing dependence of this social behavior on TSC2 gene dosage of both parties involved. Our study of this murine model thus uncovers social abnormalities that arise from TSC haploinsufficiency and are suggestive of autism.
