1. Absoud M, Parr JR, Salt A, Dale N. {{Developing a schedule to identify social communication difficulties and autism spectrum disorder in young children with visual impairment}}. {Dev Med Child Neurol};2010 (Dec 17)

Available observational tools used in the identification of social communication difficulties and diagnosis of autism spectrum disorder (ASD) rely partly on visual behaviours and therefore may not be valid in children with visual impairment. A pilot observational instrument, the Visual Impairment and Social Communication Schedule (VISS), was developed to aid in identifying social communication difficulties and ASD in young children with visual impairment affected by congenital disorders of the peripheral visual system (disorders of the globe, retina, and anterior optic nerve). The VISS was administered to 23 consecutive children (age range 1y 9mo-6y 11mo, mean 4y 1mo [SD 1.6]; 12 males, 11 females) with visual impairment (nine with severe and 14 with profound visual impairment). Item analysis was carried out by fit of the items to the Rasch model. Validity of the VISS was explored by comparison with the Childhood Autism Rating Scale (CARS) score, and the clinical ASD diagnosis (n=9). Correlation between the VISS and CARS total scores was highly significant (Spearman’s rho=-0.89; p=0.01). Below threshold rating on the VISS (score of 35) showed good agreement with the clinical ASD diagnosis (sensitivity 89%, specificity 100%). This preliminary study shows the VISS to be a promising schedule to aid the identification of ASD in young children with visual impairment.

2. Bozdagi O, Sakurai T, Papapetrou D, Wang X, Dickstein DL, Takahashi N, Kajiwara Y, Yang M, Katz AM, Scattoni ML, Harris MJ, Saxena R, Silverman JL, Crawley JN, Zhou Q, Hof PR, Buxbaum JD. {{Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication}}. {Mol Autism};2010 (Dec 17);1(1):15.

ABSTRACT: BACKGROUND: SHANK3 is a protein in the core of the postsynaptic density (PSD) and has a critical role in recruiting many key functional elements to the PSD and to the synapse, including components of alpha-amino-3-hydroxyl-5-methyl-4-isoxazole-propionic acid (AMPA), metabotropic glutamate (mGlu) and N-methyl-D-aspartic acid (NMDA) glutamate receptors, as well as cytoskeletal elements. Loss of a functional copy of the SHANK3 gene leads to the neurobehavioral manifestations of 22q13 deletion syndrome and/or to autism spectrum disorders. The goal of this study was to examine the effects of haploinsufficiency of full-length Shank3 in mice, focusing on synaptic development, transmission and plasticity, as well as on social behaviors, as a model for understanding SHANK3 haploinsufficiency in humans. METHODS: We used mice with a targeted disruption of Shank3 in which exons coding for the ankyrin repeat domain were deleted and expression of full-length Shank3 was disrupted. We studied synaptic transmission and plasticity by multiple methods, including patch-clamp whole cell recording, two-photon time-lapse imaging and extracellular recordings of field excitatory postsynaptic potentials. We also studied the density of GluR1-immunoreactive puncta in the CA1 stratum radiatum and carried out assessments of social behaviors. RESULTS: In Shank3 heterozygous mice, there was reduced amplitude of miniature excitatory postsynaptic currents from hippocampal CA1 pyramidal neurons and the input-output (I/O) relationship at Schaffer collateral-CA1 synapses in acute hippocampal slices was significantly depressed; both of these findings indicate a reduction in basal neurotransmission. Studies with specific inhibitors demonstrated that the decrease in basal transmission reflected reduced AMPA receptor-mediated transmission. This was further supported by the observation of reduced numbers of GluR1-immunoreactive puncta in the stratum radiatum. Long-term potentiation (LTP), induced either with theta-burst pairing (TBP) or high-frequency stimulation, was impaired in Shank3 heterozygous mice, with no significant change in long-term depression (LTD). In concordance with the LTP results, persistent expansion of spines was observed in control mice after TBP-induced LTP; however, only transient spine expansion was observed in Shank3 heterozygous mice. Male Shank3 heterozygotes displayed less social sniffing and emitted fewer ultrasonic vocalizations during interactions with estrus female mice, as compared to wild-type littermate controls. CONCLUSIONS: We documented specific deficits in synaptic function and plasticity, along with reduced reciprocal social interactions in Shank3 heterozygous mice. Our results are consistent with altered synaptic development and function in Shank3 haploinsufficiency, highlighting the importance of Shank3 in synaptic function and supporting a link between deficits in synapse function and neurodevelopmental disorders. The reduced glutamatergic transmission that we observed in the Shank3 heterozygous mice represents an interesting therapeutic target in Shank3-haploinsufficiency syndromes.

3. Church BA, Krauss MS, Lopata C, Toomey JA, Thomeer ML, Coutinho MV, Volker MA, Mercado E, 3rd. {{Atypical categorization in children with high-functioning autism spectrum disorder}}. {Psychon Bull Rev};2010 (Dec);17(6):862-868.

Children with autism spectrum disorder process many perceptual and social events differently from typically developing children, suggesting that they may also form and recognize categories differently. We used a dot pattern categorization task and prototype comparison modeling to compare categorical processing in children with high-functioning autism spectrum disorder and matched typical controls. We were interested in whether there were differences in how children with autism use average similarity information about a category to make decisions. During testing, the group with autism spectrum disorder endorsed prototypes less and was seemingly less sensitive to differences between to-be-categorized items and the prototype. The findings suggest that individuals with high-functioning autism spectrum disorder are less likely to use overall average similarity when forming categories or making categorical decisions. Such differences in category formation and use may negatively impact processing of socially relevant information, such as facial expressions. A supplemental appendix for this article may be downloaded from http://pbr.psychonomic-journals.org/content/supplemental.

4. Kita Y, Gunji A, Inoue Y, Goto T, Sakihara K, Kaga M, Inagaki M, Hosokawa T. {{Self-face recognition in children with autism spectrum disorders: A near-infrared spectroscopy study}}. {Brain Dev};2010 (Dec 17)

It is assumed that children with autism spectrum disorders (ASD) have specificities for self-face recognition, which is known to be a basic cognitive ability for social development. In the present study, we investigated neurological substrates and potentially influential factors for self-face recognition of ASD patients using near-infrared spectroscopy (NIRS). The subjects were 11 healthy adult men, 13 normally developing boys, and 10 boys with ASD. Their hemodynamic activities in the frontal area and their scanning strategies (eye-movement) were examined during self-face recognition. Other factors such as ASD severities and self-consciousness were also evaluated by parents and patients, respectively. Oxygenated hemoglobin levels were higher in the regions corresponding to the right inferior frontal gyrus than in those corresponding to the left inferior frontal gyrus. In two groups of children these activities reflected ASD severities, such that the more serious ASD characteristics corresponded with lower activity levels. Moreover, higher levels of public self-consciousness intensified the activities, which were not influenced by the scanning strategies. These findings suggest that dysfunction in the right inferior frontal gyrus areas responsible for self-face recognition is one of the crucial neural substrates underlying ASD characteristics, which could potentially be used to evaluate psychological aspects such as public self-consciousness.

5. Martirosian G, Ekiel A, Aptekorz M, Wiechula B, Kazek B, Jankowska-Steifer E, Jozwiak J, Moskalewski S. {{Fecal lactoferrin and Clostridium spp. in stools of autistic children}}. {Anaerobe};2010 (Dec 15)

Stools from autistic and healthy children were studied for fecal lactoferrin, Clostridium difficile toxins, Clostridium perfringens enterotoxin and cultured for Clostridium spp. Elevated level of FLA was demonstrated in 24.4% stools, all from boys (31.25%). No toxins were detected. Clostridium spp. were isolated with similar frequency from all samples. C. perfringens were isolated significantly often from the autistic stools, intermediate sensitive strains to penicillin 19%, to clindamycin 11.3%, and to metronidazole 7.5 % were detected. Further studies on fecal microflora and inflammatory mediators, with larger groups of patients, are required in order to explain their role in neurological deficits.

6. Raja M, Azzoni A. {{Autistic spectrum disorders and schizophrenia in the adult psychiatric setting: diagnosis and comorbidity}}. {Psychiatr Danub};2010 (Dec);22(4):514-521.

BACKGROUND: The relationship between Autism Spectrum Disorders (ASDs) and schizophrenia is currently unclear. We aimed to (a) assess psychotic symptoms in a consecutive series of adult patients with ASDs, (b) evaluate the comorbidity diagnosed to account for the concurrent psychotic symptoms in patients with ASDs, and (c) compare the clinical features between the patients with schizophrenia and patients with comorbid schizophrenia and ASDs. SUBJECTS AND METHODS: We included patients with ASD that were seen in adult psychiatric clinical settings during a 15-year period. The sample was further grouped according to the existence of a comorbid diagnosis of schizophrenia. Clinical and epidemiological features were assesed in in the whole sample, and further compared between the two groups. RESULTS: We identified 26 patients with first-time diagnosed ASDs. Among the 22 cases who manifested psychotic symptoms (84.6%), 16 had a concurrent diagnosis of schizophrenia (72.73%) and 6 of mood disorders (27.27%). Compared with patients with schizophrenia patients with comorbid ASDs and schizophrenia were more often men, of younger age, and more frequently developed motor side effects to antipsychotics. CONCLUSIONS: Adult psychiatric service users with ASDs are often misdiagnosed. This could be in part due to the fact that adult psychiatrists are not familiar with the diagnosis of ASDs. The high prevalence of psychotic symptoms in this sample is likely to depend on the specific setting of the study, i.e., that people with more severe forms of ASD than those typically followed-up in the national health service were reaching our public inpatient and private outpatient services. The high comorbidity rate between ASDs and schizophrenia could be related to shared neurobiology, but also to arbitrary restrictions imposed by current diagnostic systems.

7. Williamson ED, Martin A. {{Psychotropic Medications in Autism: Practical Considerations for Parents}}. {J Autism Dev Disord};2010 (Dec 14)

Medications are widely prescribed in children with autism spectrum disorders. Most commonly these medications are used to decrease symptoms that fall under three main clusters: irritability, ADHD-like symptoms, and repetitive behaviors. In this guide we introduce basic approaches to medications in children with autism and review the scientific evidence in each symptom cluster.