1. Anderson DK, Oti RS, Lord C, Welch K.{{ Patterns of growth in adaptive social abilities among children with autism spectrum disorders}}. {J Abnorm Child Psychol};2009 (Oct);37(7):1019-1034.
Adaptive social skills were assessed longitudinally at approximately ages 2, 3, 5, 9, and 13 years in a sample of 192 children with a clinical diagnosis of autism (n = 93), PDD-NOS (n = 51), or nonspectrum developmental disabilities (n = 46) at age 2. Growth curve analyses with SAS proc mixed were used to analyze social trajectories over time. Both individual characteristics and environmental resources emerged as key predictors of adaptive social behavior outcome. The gap between children with autism and the other two diagnostic groups widened with time as the social skills of the latter groups improved at a higher rate. However, within diagnostic groups, improvement ranged from minimal to very dramatic. Children with autism most at risk for problems with social adaptive abilities later in life can be identified with considerable accuracy at a very young age so they can be targeted for appropriate early intervention services.
2. Anello A, Reichenberg A, Luo X, Schmeidler J, Hollander E, Smith CJ, Puleo CM, Kryzak LA, Silverman JM. {{Brief report: parental age and the sex ratio in autism}}. {J Autism Dev Disord};2009 (Oct);39(10):1487-1492.
The male-to-female (M:F) ratio for autism spectrum disorders (ASD), typically about 4:1, appears to decrease with increasing paternal age, but this relationship has not been systematically tested. With 393 ASD cases from families with two or more ASD cases, we categorized paternal age into five age groups (<30, 30-34, 35-39, 40-44, 45+) and found that the M:F ratio was significantly decreased with increasing paternal age groups and remained so after also adjusting for maternal age. No significant relationship between maternal age group and the M:F ratio was observed. This study suggests that the M:F ratio is reduced with increasing paternal age consistent with de novo genetic or genomic anomalies arising more frequently as men age and then conceive children.
3. Brito AR, Vasconcelos MM, Domingues RC, Hygino da Cruz LC, Jr., Rodrigues Lde S, Gasparetto EL, Calcada CA. {{Diffusion tensor imaging findings in school-aged autistic children}}. {J Neuroimaging};2009 (Oct);19(4):337-343.
OBJECTIVE: To analyze and compare cerebral white matter tracts through diffusion tensor imaging in autistic and normal children. METHODS: This is a case-control study on a sample of eight male, right-handed children diagnosed with autism according to Diagnostic and Statistical Manual of Mental Disorders-4th Edition criteria, and eight healthy age- and sex-matched controls. Imaging studies were performed on a 1.5-T scanner (Symphony Maestro Class, Siemens, Erlangen, Germany). Fractional anisotropy was calculated for the frontopontine and corticospinal tracts, frontal subcortical white matter, anterior cingulate, corpus callosum, striatum, internal capsule, optic radiation, superior and inferior longitudinal fascicles, and cerebellum. Analysis of significance was based on analysis of variance test for the mean fractional anisotropy values. RESULTS: Median age of cases was 9.53 +/- 1.83 years, and of controls, 9.57 +/- 1.36 years. Diffusion tensor imaging findings included significant reduction of fractional anisotropy in the anterior corpus callosum (P= .008), right corticospinal tract (P= .044), posterior limb of right and left internal capsules (P= .003 and .049, respectively), left superior cerebellar peduncle (P= .031), and right and left middle cerebellar peduncles (P= .043 and .039, respectively) in autistic children. CONCLUSIONS: The diffusion tensor imaging findings in children with autistic disorder suggest impairment of white matter microstructure, possibly associated with reduced connectivity in corpus callosum, internal capsule, and superior and middle cerebellar peduncles.
4. Clifford S, Dissanayake C. {{Dyadic and triadic behaviours in infancy as precursors to later social responsiveness in young children with autistic disorder}}. {J Autism Dev Disord};2009 (Oct);39(10):1369-1380.
The relationship between dyadic (eye contact and affect) and triadic (joint attention) behaviours in infancy, and social responsiveness at pre-school age, was investigated in 36 children with Autistic Disorder. Measures of eye contact and affect, and joint attention, including requesting behaviours, were obtained retrospectively via parental interviews and home videos from 0- to- 24-months of age. Concurrent measures (3-5 years) included social responsiveness to another’s distress and need for help. Early dyadic behaviours observed in home videos, but not as reported by parents, were associated with later social responsiveness. Many triadic behaviours (from both parent-reports and home video) were also associated with social responsiveness at follow-up. The results are consistent with the view that early dyadic and triadic behaviours, particularly sharing attention, are important for the development of later social responsiveness.
5. Coskun M, Bozkurt H, Zoroglu S. {{Possible lamotrigine-induced mania in a child with autism spectrum disorder and epilepsy}}. {J Clin Psychopharmacol};2009 (Oct);29(5):508-509.
6. d’Orsi G, Demaio V, Scarpelli F, Calvario T, Minervini MG. {{Central sleep apnoea in Rett syndrome}}. {Neurol Sci};2009 (Oct);30(5):389-391.
Breathing disturbances in Rett syndrome were reported almost entirely during wakefulness, with normal respiration during sleep. We studied a case of a proven MECP2 mutation in a girl, whose videopolygraphic and polysomnographic monitoring suggested the evidence of central apnoeas not only during awake, but also during sleep. Apart from prevalent awake respiratory dysfunction, central apnoeas in Rett syndrome may be also present during sleep.
7. Enticott PG, Bradshaw JL, Iansek R, Tonge BJ, Rinehart NJ. {{Electrophysiological signs of supplementary-motor-area deficits in high-functioning autism but not Asperger syndrome: an examination of internally cued movement-related potentials}}. {Dev Med Child Neurol};2009 (Oct);51(10):787-791.
AIMS: Motor dysfunction is common to both autism and Asperger syndrome, but the underlying neurophysiological impairments are unclear. Neurophysiological examinations of motor dysfunction can provide information about likely sites of functional impairment and can contribute to the debate about whether autism and Asperger syndrome are variants of the same disorder or fundamentally distinct neurodevelopmental conditions. We investigated the neurophysiology of internally determined motor activity in autism and Asperger syndrome via examination of movement-related potentials (MRPs). METHOD: We used electroencephalography to investigate MRPs, via an internally cued movement paradigm, in the following three groups: (1) individuals with high-functioning autism (14 males, one female; mean age 13 y 1 mo, SD 4 y 2 mo, range 7 y 8 mo to 20 y 9 mo; mean Full-scale IQ 93.40, SD 20.72); (2) individuals with Asperger syndrome (10 males, two females; mean age 13 y 7 mo, SD 3 y 9 mo, range 8 y 11 mo to 20 y 4 mo; mean Full-scale IQ 103.25, SD 19.37), and (3) a healthy control group (13 males, seven females; mean age 14 y 0 mo, SD 3 y 11 mo; range 8 y 4 mo to 21 y 0 mo; mean Full-scale IQ 114.25, SD 11.29). RESULTS: Abnormal MRPs can reflect disruption of motor-related neural networks involving the basal ganglia, thalamus, and supplementary motor area. There was evidence for abnormal MRPs in autism (e.g. increased post-movement cortical activity, abnormal peak time) but not in Asperger syndrome. INTERPRETATION: The results support basal ganglia, thalamus, and supplementary motor area involvement as a likely source of motor dysfunction in autism, and provide further evidence for the neurobiological separateness of autism and Asperger syndrome.
8. Fernell E. {{The co-occurrence of autism and birth defects}}. {Dev Med Child Neurol};2009 (Oct);51(10):766-767.
9. Gerrard S, Rugg G. {{Sensory impairments and autism: a re-examination of causal modelling}}. {J Autism Dev Disord};2009 (Oct);39(10):1449-1463.
Sensory impairments are widely reported in autism, but remain largely unexplained by existing models. This article examines Kanner’s causal reasoning and identifies unsupported assumptions implicit in later empirical work. Our analysis supports a heterogeneous causal model for autistic characteristics. We propose that the development of a standardised framework for analysing autistic characteristics would facilitate the identification of sub-groups and the location of biological markers for genetic variation. We also support a neuroconstructivist model proposing that peripheral sensory abnormalities disrupt compilation of complex skills; impact on synaptogenesis, synaptic pruning and myelination; and subsequently manifest themselves as autistic behaviours. This model explains some of the structural and functional brain abnormalities and many of the perceptual, cognitive and attentional features found in autism.
10. Grether JK, Rosen NJ, Smith KS, Croen LA. {{Investigation of shifts in autism reporting in the California Department of Developmental Services}}. {J Autism Dev Disord};2009 (Oct);39(10):1412-1419.
We investigated if shifts in the coding of qualifying conditions in the California Department of Developmental Services (DDS) have contributed to the increase in California children with autism observed in recent years. Qualifying condition codes for mental retardation (MR) and autism in DDS electronic files were compared to hard-copy records for samples of children born 1987, 1990, 1994, and 1997. Contrary to expectations, we did not find evidence of a coding shift from « MR only » to « both MR and autism » or an increase in the proportion of children with coded autism who lacked supportive diagnostic documentation in records (possible « misclassifications »). These results indicate that changes in DDS coding practices are unlikely to explain the increase in DDS clients with autism.
11. Hudenko WJ, Stone W, Bachorowski JA. {{Laughter differs in children with autism: an acoustic analysis of laughs produced by children with and without the disorder}}. {J Autism Dev Disord};2009 (Oct);39(10):1392-1400.
Few studies have examined vocal expressions of emotion in children with autism. We tested the hypothesis that during social interactions, children diagnosed with autism would exhibit less extreme laugh acoustics than their nonautistic peers. Laughter was recorded during a series of playful interactions with an examiner. Results showed that children with autism exhibited only one type of laughter, whereas comparison participants exhibited two types. No group differences were found for laugh duration, mean fundamental frequency (F(0)) values, change in F(0), or number of laughs per bout. Findings are interpreted to suggest that children with autism express laughter primarily in response to positive internal states, rather than using laughter to negotiate social interactions.
12. Hutman T, Siller M, Sigman M. {{Mothers’ narratives regarding their child with autism predict maternal synchronous behavior during play}}. {J Child Psychol Psychiatry};2009 (Oct);50(10):1255-1263.
BACKGROUND: Mothers’ synchronous playtime behaviors have been linked to language development in children with autism (Siller & Sigman, 2002, 2008). This study sought to explain individual differences in maternal synchrony in order to improve parent-training programs targeting communication skills in children with autism. METHODS: Participants were 67 children with autism under the age of 7 and their biological mothers. Maternal cognitions were assessed using two narrative measures, the Insightfulness Assessment (Koren-Karie & Oppenheim, 1997) and the Reaction to Diagnosis Interview (Pianta & Marvin, 1992). Mean levels of maternal synchrony, measured with a micro-analytic coding system (Siller & Sigman, 2002, 2008), were compared between groups formed according to mothers’ interview classifications. RESULTS: Variation in maternal synchrony was related to classification of the Insightfulness Assessment, but not the Reaction to Diagnosis Interview. Child characteristics were not related to interview classifications or ratings of maternal synchrony. CONCLUSION: Qualities of mothers’ narratives about their child with autism and the relationship with the child are associated with variability in maternal synchronous behavior during play.
13. Hyde KL, Samson F, Evans AC, Mottron L. {{Neuroanatomical differences in brain areas implicated in perceptual and other core features of autism revealed by cortical thickness analysis and voxel-based morphometry}}. {Hum Brain Mapp};2009 (Sep 29)
Autism spectrum disorder is a complex neurodevelopmental variant thought to affect 1 in 166 [Fombonne (2003): J Autism Dev Disord 33:365-382]. Individuals with autism demonstrate atypical social interaction, communication, and repetitive behaviors, but can also present enhanced abilities, particularly in auditory and visual perception and nonverbal reasoning. Structural brain differences have been reported in autism, in terms of increased total brain volume (particularly in young children with autism), and regional gray/white matter differences in both adults and children with autism, but the reports are inconsistent [Amaral et al. (2008): Trends Neurosci 31:137-145]. These inconsistencies may be due to differences in diagnostic/inclusion criteria, and age and Intelligence Quotient of participants. Here, for the first time, we used two complementary magnetic resonance imaging techniques, cortical thickness analyses, and voxel-based morphometry (VBM), to investigate the neuroanatomical differences between a homogenous group of young adults with autism of average intelligence but delayed or atypical language development (often referred to as « high-functioning autism »), relative to a closely matched group of typically developing controls. The cortical thickness and VBM techniques both revealed regional structural brain differences (mostly in terms of gray matter increases) in brain areas implicated in social cognition, communication, and repetitive behaviors, and thus in each of the core atypical features of autism. Gray matter increases were also found in auditory and visual primary and associative perceptual areas. We interpret these results as the first structural brain correlates of atypical auditory and visual perception in autism, in support of the enhanced perceptual functioning model [Mottron et al. (2006): J Autism Dev Disord 36:27-43]. Hum Brain Mapp, 2009. (c) 2009 Wiley-Liss, Inc.
14. Laushey KM, Heflin LJ, Shippen M, Alberto PA, Fredrick L. {{Concept mastery routines to teach social skills to elementary children with high functioning autism}}. {J Autism Dev Disord};2009 (Oct);39(10):1435-1448.
Children with autism are included in general education classrooms for exposure to appropriate social models; however, simply placing children with autism with typical peers is insufficient for promoting desired gains in social skills. A multiple baseline design was used to explore the effects of concept mastery routines (CMR) on social skills for four elementary-age boys with high functioning autism. Visual and non-parametric analyses support the conclusion that small group instruction with typical peers via the CMR was effective for increasing responses, initiations, and recognition of emotional states. The skills taught in small groups generalized when the visual strategy of the completed concept diagram was taken to another setting. Most importantly, the four boys experienced improved social status following intervention.
15. Mechling LC, Gast DL, Seid NH. {{Using a personal digital assistant to increase independent task completion by students with autism spectrum disorder}}. {J Autism Dev Disord};2009 (Oct);39(10):1420-1434.
In this study, a personal digital assistant (PDA) with picture, auditory, and video prompts with voice over, was evaluated as a portable self-prompting device for students with autism spectrum disorder (ASD). Using a multiple probe design across three cooking recipes and replicated with three students with ASD, the system was tested for its effectiveness in increasing independent performance across the multiple step tasks. In addition, data were recorded for the number and types of prompts used by the students across time. Results indicate that the students with ASD were able to adjust the prompt levels used on the PDA and to maintain their ability to use the device to independently complete recipes over time.
16. Meyer-Lindenberg A, Kolachana B, Gold B, Olsh A, Nicodemus KK, Mattay V, Dean M, Weinberger DR. {{Genetic variants in AVPR1A linked to autism predict amygdala activation and personality traits in healthy humans}}. {Mol Psychiatry};2009 (Oct);14(10):968-975.
In mammals, the neuropeptide vasopressin is a key molecule for complex emotional and social behaviours. Two microsatellite polymorphisms, RS1 and RS3, near the promoter of AVPR1A, encoding the receptor subtype most heavily implicated in behaviour regulation, have been linked to autism and behavioural traits. However, the impact of these variants on human brain function is unknown. Here we show that human amygdala function is strongly associated with genetic variation in AVPR1A. Using an imaging genetics approach in a sample of 121 volunteers studied with an emotional face-matching paradigm, we found that differential activation of amygdala is observed in carriers of risk alleles for RS3 and RS1. Alleles in RS1 previously reported to be significantly over- and undertransmitted to autistic probands showed opposing effects on amygdala activation. Furthermore, we show functional difference in human brain between short and long repeat lengths that mirror findings recently obtained in a corresponding variant in voles. Our results indicate a neural mechanism mediating genetic risk for autism through an impact on amygdala signalling and provide a rationale for exploring therapeutic strategies aimed at abnormal amygdala function in this disorder.
17. Morris CM, Zimmerman AW, Singer HS. {{Childhood serum anti-fetal brain antibodies do not predict autism}}. {Pediatr Neurol};2009 (Oct);41(4):288-290.
Autoimmune hypotheses for autism include in utero transplacental exposure to maternal antibodies and acquired postnatal insults. Previous work demonstrated that some mothers of children with autistic disorder have specific antibodies against human fetal brain that differentiate them from mothers with typical children. In the present study, Western immunoblotting was used to determine whether children with autistic spectrum disorders (n = 29) have serum reactivity against human fetal brain that differs from that of controls (n = 14). There was no significant difference in reactivity, corrected for serum immunoglobulin G content and brain actin content and with special attention to reactive bands at 36, 39, 61, and 73 kDa, between autistic children and normal control subjects. Thus, in contrast to mothers, antibody reactivity against human fetal brain as measured in children ages 3-12 years does not appear to be a useful biomarker for autism.
18. Moss J, Howlin P. {{Autism spectrum disorders in genetic syndromes: implications for diagnosis, intervention and understanding the wider autism spectrum disorder population}}. {{J Intellect Disabil Res}};2009 (Oct);53(10):852-873.
BACKGROUND: An emerging literature on behavioural phenotypes has highlighted apparent associations between autism spectrum disorders (ASDs) or ASD-related phenomenology and a number of different genetically determined syndromes. METHOD: A systematic review of the current literature regarding the association with ASD and ASD characteristics was conducted in the following syndrome groups: Fragile X, Rett, Tuberous Sclerosis Complex, Down, Angelman, CHARGE and Phenylketonuria. Specific consideration was given to the role of intellectual disability in assessing the association between ASD and these syndrome groups. RESULTS: The review highlights that while formal diagnostic assessments may indicate an association between ASD and specific syndrome groups, detailed investigation has revealed subtle but qualitative differences in the presentation of ASD-like phenomenology in particular syndrome groups. The degree of ID of the individual clearly has a role to play with regard to the development and presentation of ASD-like characteristics, and caution should be taken when assessing ASD symptomatology in genetically determined syndromes associated with severe ID. However, degree of ID cannot solely account for the heightened prevalence of ASD characteristics in some specific syndrome groups. CONCLUSIONS: There is a need for caution in interpreting the significance of superficial similarities between ASD and the behavioural phenotypes of certain genetically determined syndromes. However, recognition of ASD-like characteristics (even where a true diagnosis of ASD may not be relevant) in individuals with genetic syndromes is crucial in ensuring that individuals receive appropriate behavioural management and educational placement. Further research in this field requires fine-grained investigation of behavioural phenomenology within individual syndrome groups.
19. Nazarali N, Glazebrook CM, Elliott D. {{Movement planning and reprogramming in individuals with autism}}. {J Autism Dev Disord};2009 (Oct);39(10):1401-1411.
Two experiments explored how individuals with and without autism plan and reprogram movements. Participants were given partial or complete information regarding the location of the upcoming manual movement. In Experiment 1, direct information specified the hand or direction of the upcoming movement. These results replicated previous reports that participants with autism utilize advance information to prepare their movements in the same manner as their chronologically age matched peers. Experiment 2 examined how individuals respond to an unexpected change in the movement requirements. Participants received advance information about the hand and direction of the upcoming movement. On 20% of the trials participants needed to adjust either the hand or direction they had prepared. Overall, the individuals with autism had difficulty reprogramming already planned movements, particularly if a different effector was required.
20. Ozgen HM, van Daalen E, Bolton PF, Maloney VK, Huang S, Cresswell L, van den Boogaard MJ, Eleveld MJ, van ‘t Slot R, Hochstenbach R, Beemer FA, Barrow M, Barber JC, Poot M. {{Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders}}. {Clin Genet};2009 (Oct);76(4):348-356.
Autism spectrum disorder (ASD) represents a set of neurodevelopmental disorders with a strong genetic aetiology. Chromosomal rearrangements have been detected in 5-10% of the patients with ASD, and recent applications of array comparative genomic hybridisation (aCGH) are identifying further candidate regions and genes. In this study, we present four patients who implicate microcephalin 1 (MCPH1) in band 8p23.1 as an ASD susceptibility gene. Patient 1 was a girl with a syndromic form of autistic disorder satisfying the Autism Diagnostic Interview-Revised (ADI-R), Autism Diagnostic Observation Schedule (ADOS) and Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) criteria. Oligonucleotide aCGH (oaCGH) showed that she had a classic inv dup del(8)(qter-> p23.1::p23.1-> p21.2) containing at least three candidate genes; MCPH1 and DLGAP2 within the 6.9-Mb terminal deletion and NEF3 within the concomitant 14.1-Mb duplication. Three further patients with MCPH1 copy number changes were found using single-nucleotide polymorphism (SNP) array analysis in a cohort of 54 families with ASD patients. Our results show that ASD can be a component of the classical inv dup del(8) phenotype and identify changes in copy number of MCPH1 as a susceptibility factor for ASD in the distal short arm of chromosome 8.
21. Schendel DE, Autry A, Wines R, Moore C. {{The co-occurrence of autism and birth defects: prevalence and risk in a population-based cohort}}. {Dev Med Child Neurol};2009 (Oct);51(10):779-786.
AIM :To estimate the prevalence of major birth defects among children with autism, the prevalence of autism in children with birth defects, and the risk for autism associated with having birth defects. METHOD: Retrospective cohort including all children born in Atlanta, GA, USA, 1986 to 1993, who survived to age 3 years and were identified through Georgia vital records. Children with autism and other developmental disabilities residing in Atlanta at ages 3 to 10 years in 1996 were identified through the Metropolitan Atlanta Developmental Disabilities Surveillance Program. Children with major birth defects through age 6 years were identified by the Metropolitan Atlanta Congenital Defects Program. RESULTS: Birth defects were found among 6% of children with autism (total n=617; 488 males, 129 females) and was associated with a near twofold increased risk for autism overall. However, the risk magnitude and statistical significance varied by type of birth defect. With any type of birth defect, the risk for autism accompanied by intellectual disability or other developmental disabilities was typically higher than the risk for autism alone. A 6:1 to 8:1 male bias was observed among children with autism and a birth defect. INTERPRETATION: Investigation of the association between autism and birth defects is warranted, especially for the role of birth defects in autism among sex-specific or autism subgroups.
22. Shepherd J, Garza VM, De Leon OA. {{Waxing-and-waning catatonia after intermittent exposure to aripiprazole in a case of autism and bipolar disorder}}. {J Clin Psychopharmacol};2009 (Oct);29(5):503-504.
23. Solomon M, Ozonoff SJ, Ursu S, Ravizza S, Cummings N, Ly S, Carter CS. {{The neural substrates of cognitive control deficits in autism spectrum disorders}}. {Neuropsychologia};2009 (Oct);47(12):2515-2526.
Executive function deficits are among the most frequently reported symptoms of autism spectrum disorders (ASDs), however, there have been few functional magnetic resonance imaging (fMRI) studies that investigate the neural substrates of executive function deficits in ASDs, and only one in adolescents. The current study examined cognitive control – the ability to maintain task context online to support adaptive functioning in the face of response competition – in 22 adolescents aged 12-18 with autism spectrum disorders and 23 age, gender, and IQ matched typically developing subjects. During the cue phase of the task, where subjects must maintain information online to overcome a prepotent response tendency, typically developing subjects recruited significantly more anterior frontal (BA 10), parietal (BA 7 and BA 40), and occipital regions (BA 18) for high control trials (25% of trials) versus low control trials (75% of trials). Both groups showed similar activation for low control cues, however the ASD group exhibited significantly less activation for high control cues. Functional connectivity analysis using time series correlation, factor analysis, and beta series correlation methods provided convergent evidence that the ASD group exhibited lower levels of functional connectivity and less network integration between frontal, parietal, and occipital regions. In the typically developing group, fronto-parietal connectivity was related to lower error rates on high control trials. In the autism group, reduced fronto-parietal connectivity was related to attention deficit hyperactivity disorder symptoms.
24. Sykes NH, Toma C, Wilson N, Volpi EV, Sousa I, Pagnamenta AT, Tancredi R, Battaglia A, Maestrini E, Bailey AJ, Monaco AP, International Molecular Genetic Study of Autism Consortium (IMGSAC)
. {{Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection}}. {Eur J Hum Genet};2009 (Oct);17(10):1347-1353.
SHANK3 is located on chromosome 22q13.3 and encodes a scaffold protein that is found in excitatory synapses opposite the pre-synaptic active zone. SHANK3 is a binding partner of neuroligins, some of whose genes contain mutations in a small subset of individuals with autism. In individuals with autism spectrum disorders (ASDs), several studies have found SHANK3 to be disrupted by deletions ranging from hundreds of kilobases to megabases, suggesting that 1% of individuals with ASDs may have these chromosomal aberrations. To further analyse the involvement of SHANK3 in ASD, we screened the International Molecular Genetic Study of Autism Consortium (IMGSAC) multiplex family sample, 330 families, for SNP association and copy number variants (CNVs) in SHANK3. A collection of 76 IMGSAC Italian probands from singleton families was also examined by multiplex ligation-dependent probe amplification for CNVs. No CNVs or SNP associations were found within the sample set, although sequencing of the gene was not performed. Our data suggest that SHANK3 deletions may be limited to lower functioning individuals with autism.
25. Walworth DD, Register D, Engel JN. {{Using the SCERTS Model Assessment Tool to Identify Music Therapy Goals for Clients with Autism Spectrum Disorder}}. {J Music Ther};2009 (Fall);46(3):204-216.
The purposes of this paper were to identify and compare goals and objectives addressed by music therapists that are contained in the SCERTS Model, for use with children at risk or diagnosed with a communication impartment including Autism Spectrum Disorder (ASD). A video analysis of music therapists working with clients at risk or diagnosed with ASD (N = 33) was conducted to: (a) identify the areas of the SCERTS assessment model that music therapists are currently addressing within their sessions for clients with ASD, and (b) compare the frequency of SCERTS domains and goals addressed by music therapists within sessions. Results of the analysis revealed that all three domains of social communication, emotional regulation, and transactional support were addressed within music therapy sessions. Within each domain both broad goals were all addressed including joint attention and symbol use for social communication, self-regulation and mutual regulation for emotional regulation, and interpersonal support and learning support for transactional support. Overall, music therapists addressed transactional support goals and subgoals more often than social communication and emotional regulation goals and subgoals. The highest frequency goal area addressed was interpersonal support (73.96%) and the lowest goal area addressed was joint attention (35.96%). For the social partner and language partner language stages, 58 of the 320 possible subgoals were addressed with 90% frequency or higher, while 13 of the same subgoals were never addressed. The SCERTS Model is designed for use by a multidisciplinary team of professionals and family members throughout a client’s treatment and contains an ongoing assessment tool with resulting goals and objectives. This analysis indicates that many SCERTS goals and objectives can be addressed in music therapy interventions. Additionally, goals and subgoals not previously recognized in music therapy treatment can be generated by the use of the SCERTS Model.
26. Yerys BE, Jankowski KF, Shook D, Rosenberger LR, Barnes KA, Berl MM, Ritzl EK, Vanmeter J, Vaidya CJ, Gaillard WD. {{The fMRI success rate of children and adolescents: typical development, epilepsy, attention deficit/hyperactivity disorder, and autism spectrum disorders}}. {Hum Brain Mapp};2009 (Oct);30(10):3426-3435.
Functional magnetic resonance imaging (fMRI) in children is increasingly used in clinical application and in developmental research; however, little is known how pediatric patient and typically developing populations successfully complete studies. We examined pediatric success rates with epilepsy, attention deficit/hyperactivity disorder (ADHD), autism spectrum disorders (ASD), and typically developing children (TYP). We also examined the affect of age, and, for ADHD populations, medication status on success rates. We defined a successful fMRI individual run when the data were interpretable and included in group statistics. For unsuccessful runs, datasets with excessive motion or floor task performance were categorized when possible. All clinical groups scanned less successfully than controls; medication status did not affect ADHD success (epilepsy, 80%; ADHD (off methylphenidate), 77%; ADHD (on methylphenidate), 81%; ASD, 70%; TYP, 87%). Ten to 18-year-old had a significantly greater scan success rate than 4- to 6-year-old; adolescents (13- to 18-year-old) demonstrated greater scan success rates than 7- to 9-year-old. Success rate for completing an entire battery of experimental runs (n = 2-6), varied between 50-59% for patient populations and 69% for TYP (79% when excluding 4- to 6-year-old). Success rate for completing one run from a battery was greater than 90% for all groups, except for ASD (81%). These data suggest 20-30% more children should be recruited in these patient groups, but only 10-20% for TYP for research studies. Studies with 4- to 6-year-olds may require 20-40% additional participants; studies with 10- to 18-year-olds may require 10-15% additional participants.
27. Yoder P, Stone WL, Walden T, Malesa E. {{Predicting social impairment and ASD diagnosis in younger siblings of children with autism spectrum disorder}}. {J Autism Dev Disord};2009 (Oct);39(10):1381-1391.
Later-born siblings of children with autism spectrum disorder (Sibs-ASD) are at elevated risk for social impairments. Two putative predictors of later social impairment-measures of responding to joint attention and weighted triadic communication-were examined in a sample of 43 Sibs-ASD who were followed from 15 to 34 months of age. Results revealed that initial level of responding to joint attention and growth rate of weighted triadic communication predicted the degree of social impairment at the final measurement period. Additionally, both predictors were associated with later ASD diagnosis. In contrast, unweighted triadic communication, age of entry into the study, and initial language level did not predict later social impairment. The importance of considering social outcome as a continuous variable in prospective studies of Sibs-ASD is discussed.
