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. Bowker A, D’Angelo NM, Hicks R, Wells K. {{Treatments for Autism: Parental Choices and Perceptions of Change}}. {J Autism Dev Disord};2010 (Dec 16)
Empirically conducted studies of the efficacy of various treatments for autism are limited, which leaves parents with little evidence on which to base their treatment decisions (Kasari, Journal of Autism and Developmental Disorders, 32: 447-461, 2002). The purpose of this study was to examine the types of treatments in current use by families of children with ASD. In addition, parents’ perceptions of improvement in their child’s functioning were explored. Through an online survey, a sample of 970 parents of ASD children reported on the treatments currently in use, those discontinued, and reasons for discontinuation. Results indicate that most families adopt multiple treatment approaches. Parents were most likely to discontinue non-evidence based treatments when they did not see improvement in their child’s functioning.
3. Boyd BA, McDonough SG, Rupp B, Khan F, Bodfish JW. {{Effects of a Family-Implemented Treatment on the Repetitive Behaviors of Children with Autism}}. {J Autism Dev Disord};2010 (Dec 14)
The restricted and repetitive behaviors of children with autism can interfere with family functioning as well as learning and socialization opportunities for the child. To date, neither pharmacological nor comprehensive behavioral treatments have been found to be consistently effective at significantly reducing children’s engagement in repetitive behaviors. We developed Family-Implemented Treatment for Behavioral Inflexibility (FITBI) to target the full variety of repetitive behaviors found in autism. For the current study, a therapist and parents of five children with autism (mean age = 48 months) co-implemented FITBI in a clinic setting over a 12-week treatment period. Using single case design methodology, significant reductions in repetitive behaviors were found for all participants and maintenance of treatment effects for 4 of 5 participants.
4. 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.
5. Canal-Bedia R, Garcia-Primo P, Martin-Cilleros MV, Santos-Borbujo J, Guisuraga-Fernandez Z, Herraez-Garcia L, Del Mar Herraez-Garcia M, Boada-Munoz L, Fuentes-Biggi J, Posada-de la Paz M. {{Modified Checklist for Autism in Toddlers: Cross-Cultural Adaptation and Validation in Spain}}. {J Autism Dev Disord};2010 (Dec 16)
Early detection and treatment have been shown to be effective in reducing disability severity caused by Autistic Spectrum Disorders (ASDs). As Spanish pediatricians have no detection tool, the Modified Checklist for Autism in Toddlers (M-CHAT) was first translated into and culturally adapted to Spanish. Validity and reliability studies were carried out in two different geographical areas of Spain, where M-CHAT was administered to two different samples, namely: 2,480 high- and low-risk children; and 2,055 low-risk children. The results obtained were similar to those yielded by the original M-CHAT studies. Differences were found in positive predictive value, due to the low ASD frequency observed in this study. M-CHAT is still being studied in a large population-based screening program in Spain.
6. Fuentes CT, Mostofsky SH, Bastian AJ. {{No Proprioceptive Deficits in Autism Despite Movement-Related Sensory and Execution Impairments}}. {J Autism Dev Disord};2010 (Dec 17)
Autism spectrum disorder (ASD) often involves sensory and motor problems, yet the proprioceptive sense of limb position has not been directly assessed. We used three tasks to assess proprioception in adolescents with ASD who had motor and sensory perceptual abnormalities, and compared them to age- and IQ-matched controls. Results showed no group differences in proprioceptive accuracy or precision during active or passive tasks. Both groups showed (a) biases in elbow angle accuracy that varied with joint position, (b) improved elbow angle precision for active versus passive tasks, and (c) improved precision for a fingertip versus elbow angle estimation task. Thus, a primary proprioceptive deficit may not contribute to sensorimotor deficits in ASD. Abnormalities may arise at later sensory processing stages.
7. Georgiades S, Szatmari P, Duku E, Zwaigenbaum L, Bryson S, Roberts W, Fombonne E, Mirenda P, Smith I, Vaillancourt T, Volden J, Waddell C, Thompson A. {{Phenotypic Overlap Between Core Diagnostic Features and Emotional/Behavioral Problems in Preschool Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2010 (Dec 14)
This study examined the phenotypic overlap between core diagnostic features and emotional/behavioral problems in a sample of 335 preschool children with autism spectrum disorder (ASD). Results from principal component analysis (2 components; 49.70% variance explained) suggested substantial phenotypic overlap between core diagnostic features and emotional/behavioral problems. Component I, Emotional Behavioral Repetitive Problems, was independent of the children’s intellectual, adaptive functioning, and structural language abilities. Component II, Social Communication Deficits, was negatively related to the children’s intellectual, adaptive functioning, and structural language abilities. Both components were positively related to parental stress. This exploratory study contributes to our understanding of the ASD phenotype and provides further support for including emotional/behavioral problems as part of the clinical characterization of children with ASD.
8. Giannopulu I, Pradel G. {{Multimodal interactions in free game play of children with autism and a mobile toy robot}}. {NeuroRehabilitation};2010 (Jan 1);27(4):305-311.
Autism is a complex neuropsychological disorder characterized by qualitative alterations in social interaction and interpersonal communication. The aim of this study is to estimate the interaction between autistic children and a mobile toy robot during free spontaneous game play. The duration of different criteria including eye contact, touch, manipulation, and posture have been considered. The variety of interactions of children with autism and the mobile toy robot show that the children take an interest in playing with the robot. This study suggests that the mobile toy robot in an ecological situation such as free, spontaneous game play could be used as a mediator of social stimuli in order to reduce the impairment of autistic children skills related to social information understanding and interaction.
9. Gura GF, Champagne MT, Blood-Siegfried JE. {{Autism Spectrum Disorder Screening in Primary Care}}. {J Dev Behav Pediatr};2010 (Dec 14)
OBJECTIVES:: One in 110 children in the United States has autism spectrum disorder (ASD). Early identification and early intervention have been shown to improve outcomes for children with ASD. Although recommended, routine ASD screening at 18 and 24 months of age has not been widely adopted in practice. This quality improvement study examined whether a private primary care practice could overcome screening barriers and implement the recommended universal ASD screening practice using the Modified Checklist for Autism in Toddlers. METHOD:: Guided by the Diffusion of Innovations evidence-based conceptual model, a practice change using the Modified Checklist for Autism in Toddlers was developed. A retrospective chart review of 99 subjects was done to evaluate screening fidelity and cost. RESULTS:: An overall screening fidelity of 91% was achieved over a 7-month period. The cost of screening to the practice averaged $22.78 per month. This was offset by an average of $38.76 of revenue per month. CONCLUSION:: These findings suggest that low-cost universal screening can be implemented in primary care when addressed from an organizational perspective.
10. Hadzsiev K, Polgar N, Bene J, Komlosi K, Karteszi J, Hollody K, Kosztolanyi G, Renieri A, Melegh B. {{Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations}}. {J Hum Genet};2010 (Dec 16)
Rett syndrome (RTT) is characterized by a relatively specific clinical phenotype. We screened 152 individuals with RTT phenotype. A total of 22 different known MECP2 mutations were identified in 42 subjects (27.6%). Of the 22 mutations, we identified 7 (31.8%) frameshift-causing deletions, 4 (18.2%) nonsense, 10 (45.5%) missense mutations and one insertion (4.5%). The most frequent pathologic changes were: p.Thr158Met (14.2%) and p.Arg133Cys (11.9%) missense, and p.Arg255Stop (9.5%) and p.Arg294Stop (9.5%) nonsense mutations. We also detected the c.925C>T (p.Arg309Trp) mutation in an affected patient, whose role in RTT pathogenesis is still unknown. Patients without detectable MECP2 defects were screened for mutations of cyclin-dependent kinase-like 5 (CDKL5) gene, responsible for the early-onset variant of RTT. We discovered two novel mutations: c.607G>T resulting in a termination codon at aa203, disrupting the catalytic domain, and c.1708G>T leading to a stop at aa570 of the C terminus. Both patients with CDKL5 mutation presented therapy-resistant epilepsy and a phenotype fitting with the diagnosis of early-onset variant of RTT. No FOXG1 mutation was detected in any of the remaining patients. A total of 110 (72.5%) patients remained without molecular genetic diagnosis that necessitates further search for novel gene mutations in this phenotype. Our results also suggest the need of screening for CDKL5 mutations in patients with Rett phenotype tested negative for MECP2 mutations.Journal of Human Genetics advance online publication, 16 December 2010; doi:10.1038/jhg.2010.156.
11. Huffman LC, Sutcliffe TL, Tanner IS, Feldman HM. {{Management of Symptoms in Children With Autism Spectrum Disorders: A Comprehensive Review of Pharmacologic and Complementary-Alternative Medicine Treatments}}. {J Dev Behav Pediatr};2010 (Dec 14)
In the care of children with autism spectrum disorders (ASD), medical treatment is typically considered an adjunct to educational and behavioral interventions. Nonetheless, large proportions of children with ASD are managed medically and receive both pharmacologic and complementary-alternative medicine (CAM) treatments. Although many medical treatments have been studied in children with ASD, studies vary widely in terms of the sample, sample size, research design, purposes of treatment, and measurements of change. Surprisingly, comprehensive reviews of the options for medical management in ASD are lacking, particularly reviews that address both pharmacologic and CAM treatments. Furthermore, reviews to date tend to emphasize general effects of medication; this perspective contradicts medical practice, which targets particular symptoms during treatment selection and monitoring. This review of 115 studies adds to the ASD treatment literature by (1) including studies of individuals 0 to 22 years of age; (2) aggregating studies of pharmacologic treatments and CAM treatments; and importantly, (3) organizing treatment response by ASD symptoms, differentiating core and associated symptoms.
12. 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.
13. Stevenson JL, Kellett KA. {{Can magnetic resonance imaging aid diagnosis of the autism spectrum?}}. {J Neurosci};2010 (Dec 15);30(50):16763-16765.
