1. Ashwood P, Krakowiak P, Hertz-Picciotto I, Hansen R, Pessah I, Van de Water J. {{Elevated plasma cytokines in autism spectrum disorders provide evidence of immune dysfunction and are associated with impaired behavioral outcome}}. {Brain Behav Immun}. 2011 Jan;25(1):40-5.
Autism spectrum disorders (ASD) are characterized by impairment in social interactions, communication deficits, and restricted repetitive interests and behaviors. A potential role for immune dysfunction has been suggested in ASD. To test this hypothesis, we investigated evidence of differential cytokine release in plasma samples obtained from 2 to 5 year-old children with ASD compared with age-matched typically developing (TD) children and children with developmental disabilities other than autism (DD). Participants were recruited as part of the population based case-control CHARGE (Childhood Autism Risks from Genetics and Environment) study and included: 97 participants with a confirmed diagnosis of ASD using standard assessments (DSM IV criteria and ADOS, ADI-R), 87 confirmed TD controls, and 39 confirmed DD controls. Plasma was isolated and cytokine production was assessed by multiplex Luminex analysis. Observations indicate significant increases in plasma levels of a number of cytokines, including IL-1beta, IL-6, IL-8 and IL-12p40 in the ASD group compared with TD controls (p<0.04). Moreover, when the ASD group was separated based on the onset of symptoms, it was noted that the increased cytokine levels were predominantly in children who had a regressive form of ASD. In addition, increasing cytokine levels were associated with more impaired communication and aberrant behaviors. In conclusion, using larger number of participants than previous studies, we report significantly shifted cytokine profiles in ASD. These findings suggest that ongoing inflammatory responses may be linked to disturbances in behavior and require confirmation in larger replication studies. The characterization of immunological parameters in ASD has important implications for diagnosis, and should be considered when designing therapeutic strategies to treat core symptoms and behavioral impairments of ASD.
2. Bakken TL. {{Lauren H. Kerstein: My Sensory Book: Working Together to Explore Sensory Issues and the Big Feelings they can Cause: A Workbook for Parents, Professionals, and Children : Autism Asperger Publishing Co, 2008, 157 pp., ISBN: 978-1-934575-21-5, $23.95 (paper)}}. {J Autism Dev Disord}. 2011 Jan;41(1):132-3.
3. Bolte S, Westerwald E, Holtmann M, Freitag C, Poustka F. {{Autistic traits and autism spectrum disorders: the clinical validity of two measures presuming a continuum of social communication skills}}. {J Autism Dev Disord}. 2011 Jan;41(1):66-72.
Research indicates that autism is the extreme end of a continuously distributed trait. The Social Responsiveness Scale (SRS) and the Social and Communication Disorders Checklist (SCDC) aim to assess autistic traits. The objective of this study was to compare their clinical validity. The SRS showed sensitivities of .74 to .80 and specificities of .69 to 1.00 for autism. Sensitivities were .85 to .90 and specificities .28 to.82 for the SCDC. Correlations with the ADI-R, ADOS and SCQ were higher for the SRS than for the SCDC. The SCDC seems superior to the SRS to screen for unspecific social and communicative deficits including autism. The SRS appears more suitable than the SCDC in clinical settings and for specific autism screening.
4. Bruins B, Fine HF, Moorthy LN, Jain A, Jain AK, Milligan TW, et al. {{Index of suspicion * case 1: recurrent oral ulcers in an adolescent * case 2: visual impairment in an autistic child * case 3: Fever and hepatosplenomegaly in an infant}}. {Pediatr Rev}. 2011 Jan;32(1):35-40.
5. Castorina LL, Negri LM. {{The inclusion of siblings in social skills training groups for boys with asperger syndrome}}. {J Autism Dev Disord}. 2011 Jan;41(1):73-81.
This pilot investigation evaluated the effectiveness of siblings as generalisation agents in an 8-week social skills training (SST) program designed for boys with Asperger syndrome (AS). Twenty-one boys aged 8-12 participated in a SST group alone, with a sibling, or remained in a wait-list control group. After training, participants’ identification of non-verbal social cues significantly improved and was maintained at 3-month follow-up, irrespective of sibling involvement. Similar trends existed for participants’ ability to accurately interpret emotions relative to controls. Improvements did not extend to parent and teacher ratings on standardised social skills measures, suggesting poor generalisation, or questionable sensitivity of measures to taught skills. Results suggest some promise in improving social skills training for children with AS.
6. Chadman KK. {{Fluoxetine but not risperidone increases sociability in the BTBR mouse model of autism}}. {Pharmacol Biochem Behav}. 2011 Jan;97(3):586-94.
Autism, a neurodevelopmental disorder, is characterized by abnormal social interactions, impaired social communication and repetitive behaviors and/or restricted interests, along with several associated symptoms including irritability and anxiety. Risperidone is approved for the irritability and self-injurious behaviors found in autism. Fluoxetine is under evaluation for the repetitive behaviors and anxiety associated with autism. These two drugs were evaluated in the BTBR T+tf/J (BTBR) mouse model of autism and C57BL/6J (B6) mice by using the three-chambered social approach test and elevated plus maze to determine effects on sociability and anxiety. Fluoxetine increased sociability, defined as time spent with a stranger mouse, in the BTBR mice without affecting anxiety-like behavior in the elevated plus maze. Fluoxetine did not significantly change either behavior in the B6 mice. Risperidone did not affect sociability or anxiety-like behaviors and had a sedative-like effect at higher doses. These findings suggest that fluoxetine may have some therapeutic efficacy for treating the social behaviors in autism.
7. Chapman NH, Estes A, Munson J, Bernier R, Webb SJ, Rothstein JH, et al. {{Genome-scan for IQ discrepancy in autism: evidence for loci on chromosomes 10 and 16}}. {Hum Genet}. 2011 Jan;129(1):59-70.
Performance IQ (PIQ) greater than verbal IQ (VIQ) is often observed in studies of the cognitive abilities of autistic individuals. This characteristic is correlated with social and communication impairments, key parts of the autism diagnosis. We present the first genetic analyses of IQ discrepancy (PIQ-VIQ) as an autism-related phenotype. We performed genome-wide joint linkage and segregation analyses on 287 multiplex families, using a Markov chain Monte Carlo approach. Genetic data included a genome-scan of 387 micro-satellite markers in 210 families augmented with additional markers added in a subset of families. Empirical P values were calculated for five interesting regions. Linkage analysis identified five chromosomal regions with substantial regional evidence of linkage; 10p12 [P = 0.001; genome-wide (gw) P = 0.05], 16q23 (P = 0.015; gw P = 0.53), 2p21 (P = 0.03, gw P = 0.78), 6q25 (P = 0.047, gw P = 0.91) and 15q23-25 (P = 0.053, gw P = 0.93). The location of the chromosome 10 linkage signal coincides with a region noted in a much earlier genome-scan for autism, and the chromosome 16 signal coincides exactly with a linkage signal for non-word repetition in specific language impairment. This study provides strong evidence for a QTL influencing IQ discrepancy in families with autistic individuals on chromosome 10, and suggestive evidence for a QTL on chromosome 16. The location of the chromosome 16 signal suggests a candidate gene, CDH13, a T-cadherin expressed in the brain, which has been implicated in previous SNP studies of autism and ADHD.
8. Charman T. {{Commentary: Glass half full or half empty? Testing social communication interventions for young children with autism–reflections on Landa, Holman, O’Neill, and Stuart (2011)}}. {J Child Psychol Psychiatry}. 2011 Jan;52(1):22-3.
9. Daniels AM, Rosenberg RE, Law JK, Lord C, Kaufmann WE, Law PA. {{Stability of initial autism spectrum disorder diagnoses in community settings}}. {J Autism Dev Disord}. 2011 Jan;41(1):110-21.
The study’s objectives were to assess diagnostic stability of initial autism spectrum disorder (ASD) diagnoses in community settings and identify factors associated with diagnostic instability using data from a national Web-based autism registry. A Cox proportional hazards model was used to assess the relative risk of change in initial ASD diagnosis as a function of demographic characteristics, diagnostic subtype, environmental factors and natural history. Autistic disorder was the most stable initial diagnosis; pervasive developmental disorder-not otherwise specified was the least stable. Additional factors such as diagnosing clinician, region, when in time a child was initially diagnosed, and history of autistic regression also were significantly associated with diagnostic stability in community settings. Findings suggest that the present classification system and other secular factors may be contributing to increasing instability of community-assigned labels of ASD.
10. Delahanty RJ, Kang JQ, Brune CW, Kistner EO, Courchesne E, Cox NJ, et al. {{Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism}}. {Mol Psychiatry}. 2011 Jan;16(1):86-96.
Maternal 15q11-q13 duplication is the most common copy number variant in autism, accounting for approximately 1-3% of cases. The 15q11-q13 region is subject to epigenetic regulation, and genomic copy number losses and gains cause genomic disorders in a parent-of-origin-specific manner. One 15q11-q13 locus encodes the GABA(A) receptor beta3 subunit gene (GABRB3), which has been implicated by several studies in both autism and absence epilepsy, and the co-morbidity of epilepsy in autism is well established. We report that maternal transmission of a GABRB3 signal peptide variant (P11S), previously implicated in childhood absence epilepsy, is associated with autism. An analysis of wild-type and mutant beta3 subunit-containing alpha1beta3gamma2 or alpha3beta3gamma2 GABA(A) receptors shows reduced whole-cell current and decreased beta3 subunit protein on the cell surface due to impaired intracellular beta3 subunit processing. We thus provide the first evidence of an association between a specific GABA(A) receptor defect and autism, direct evidence that this defect causes synaptic dysfunction that is autism relevant and the first maternal risk effect in the 15q11-q13 autism duplication region that is linked to a coding variant.
11. DeLorey TM, Sahbaie P, Hashemi E, Li WW, Salehi A, Clark DJ. {{Somatosensory and sensorimotor consequences associated with the heterozygous disruption of the autism candidate gene, Gabrb3}}. {Behav Brain Res}. 2011 Jan 1;216(1):36-45.
Autism spectrum disorder (ASD) is diagnosed based on three core features: impaired social interactions, deficits in communication and repetitive or restricted behavioral patterns. Against this backdrop, abnormal sensory processing receives little attention despite its prevalence and the impact it exerts on the core diagnostic features. Understanding the source of these sensory abnormalities is paramount to developing intervention strategies aimed at maximizing the coping ability of those with ASD. Consequently, we chose to examine whether sensory abnormalities were present in mice heterozygous for the Gabrb3 gene, a gene strongly associated with ASD. Mice were assessed for tactile and heat sensitivity, sensorimotor competence (accelerating rotarod task) and sensorimotor gating by prepulse inhibition of the acoustic startle reflex (PPI). All heterozygotes exhibited an increase in seizure susceptibility and similar reductions in Gabrb3 expression in the dorsal root ganglia, spinal cord, whole brain and amygdala. Interestingly, significant differences were noted between heterozygous variants in regards to tactile sensitivity, heat sensitivity, sensorimotor competence and PPI along with differences in Gabrb3 expression in the reticular thalamic nucleus and the bed nucleus of stria terminalis. These differences were influenced by the heterozygotes’ gender and whether the Gabrb3 gene was of paternal or maternal origin. These results are not adequately explained by simple haploinsufficiency of Gabrb3, therefore, additional mechanisms are likely to be involved. In addition, this is the first report of the occurrence of tactile and heat hypersensitivity in an ASD mouse model, two features often associated with ASD.
12. Filges I, Rothlisberger B, Blattner A, Boesch N, Demougin P, Wenzel F, et al. {{Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism}}. {Clin Genet}. 2011 Jan;79(1):79-85.
Submicroscopic chromosomal anomalies play an important role in the aetiology of intellectual disability (ID) and have been shown to account for up to 10% of non-syndromic forms. We present a family with two affected boys compatible with X-linked inheritance of a phenotype of severe neurodevelopmental disorder co-segregating with a deletion in Xp22.11 exclusively containing the PTCHD1 gene. Although the exact function of this gene is unknown to date, the structural overlap of its encoded patched domain-containing protein 1, the transmembrane protein involved in the sonic hedgehog pathway, and its expression in human cortex and cerebellum as well as in mice and drosophila brain suggests a causative role of its nullisomy in the developmental phenotype of our family. Our findings support the recent notions that PTCHD1 may play a role in X-linked intellectual disability (XLID) and autism disorders.
13. Freeth M, Foulsham T, Chapman P. {{The influence of visual saliency on fixation patterns in individuals with Autism Spectrum Disorders}}. {Neuropsychologia}. 2011 Jan;49(1):156-60.
It is widely reported that individuals with Autism Spectrum Disorders (ASD) direct their attention in an atypical manner. When viewing complex scenes, typically developing individuals look at social aspects of scenes more rapidly than individuals with ASD. In the absence of a strong drive to extract social information, is something else capturing attention in these initial fixations, such as visually salient features? Twenty four high-functioning adolescents with ASD and 24 typically developing matched control participants viewed a series of indoor and outdoor scenes while their eye movements were tracked. Participants in both groups were more likely to fixate on salient regions in the first five fixations than later in viewing. Peak saliency at fixation occurred at fixation two for the typically developing participants but at fixation three for ASD participants. This difference was driven by typically developing participants looking at heads earlier than ASD participants – which are often visually salient. No differences between groups were observed for images in which the heads were not salient. We can therefore conclude that visual saliency impacts fixation location in a similar manner in individuals with ASD and those with typical development. It was found that social features in scenes (heads) captured attention much more than visually salient features, even in individuals with ASD.
14. Fuertes-Gonzalez MC, Silvestre FJ, Almerich-Silla JM. {{Oral findings in Rett syndrome: A systematic review of the dental literature}}. {Med Oral Patol Oral Cir Bucal}. 2011;16(1):e37-41.
Rett syndrome (RS) is a chromosome X-linked genetic neurological disorder characterized by developmental regression, particularly in relation to expressive language and use of the hands, together with profound mental retardation, that almost exclusively affects females. The present review describes the 35 cases of RS published in the indexed literature (Medline) – the first corresponding to 1985 and the last to the year 2007. Certain oral manifestations of the disease are derived from the drug treatment prescribed to control the disease, while others are common to other clinical conditions characterized by convulsion activity, difficulties for correct oral hygiene, walking problems and/or an excess of oral / digital-manual habits. In any case, bruxism is the oral habit most frequently associated with RS-the treatment of which remains the subject of controversy.
15. Gana S, Panizzon M, Fongaro D, Selicorni A, Memo L, Scandurra V, et al. {{Nicolaides-Baraitser syndrome: two new cases with autism spectrum disorder}}. {Clin Dysmorphol}. 2011 Jan;20(1):38-41.
Nicolaides-Baraitser syndrome is a rare clinical condition characterized by mental retardation with impairment of expressive language, short stature, microcephaly, sparse hair, typical facial dysmorphisms, and interphalangeal joint swellings. To date 24 cases have been reported, most of them being sporadic. The genetic background of Nicolaides-Baraitser syndrome is unclear in terms of cause and mode of inheritance, one of the more probable explanations is de novo mutation of a dominant gene. Some reported patients presented autistic features, although in none of these patients was the diagnosis of autism spectrum disorder formally made. We describe two unrelated patients with clinical features suggesting Nicolaides-Baraitser syndrome and, in addition, autism spectrum disorder is defined by the presence of the three cardinal core features: qualitative impairments in social, communicative, and behavioral development.
16. Ghanizadeh A. {{Leptin as a new approach for treatment for autism and epilepsy, a hypothesis with clinical implications}}. {Brain Dev}. 2011 Jan;33(1):92.
17. Ghanizadeh A. {{Can Retaining Asperger Syndrome in DSM V Help Establish Neurobiological Endophenotypes?}}. {J Autism Dev Disord}. 2011 Jan;41(1):130.
18. Goldberg MC, Spinelli S, Joel S, Pekar JJ, Denckla MB, Mostofsky SH. {{Children with High Functioning Autism show increased prefrontal and temporal cortex activity during error monitoring}}. {Dev Cogn Neurosci}. 2011 Jan 1;1(1):47-56.
Evidence exists for deficits in error monitoring in autism. These deficits may be particularly important because they may contribute to excessive perseveration and repetitive behavior in autism. We examined the neural correlates of error monitoring using fMRI in 8-12-year-old children with high-functioning autism (HFA, n=11) and typically developing children (TD, n=15) during performance of a Go/No-Go task by comparing the neural correlates of commission errors versus correct response inhibition trials. Compared to TD children, children with HFA showed increased BOLD fMRI signal in the anterior medial prefrontal cortex (amPFC) and the left superior temporal gyrus (STempG) during commission error (versus correct inhibition) trials. A follow-up region-of-interest analysis also showed increased BOLD signal in the right insula in HFA compared to TD controls. Our findings of increased amPFC and STempG activity in HFA, together with the increased activity in the insula, suggest a greater attention towards the internally-driven emotional state associated with making an error in children with HFA. Since error monitoring occurs across different cognitive tasks throughout daily life, an increased emotional reaction to errors may have important consequences for early learning processes.
19. Groen WB, Buitelaar JK, van der Gaag RJ, Zwiers MP. {{Pervasive microstructural abnormalities in autism: a DTI study}}. {J Psychiatry Neurosci}. 2011 Jan;36(1):32-40.
BACKGROUND: Recent studies have reported abnormal functional connectivity patterns in the brains of people with autism that may be accompanied by decreases in white matter integrity. Since autism is a developmental disorder, we aim to investigate the nature and location of decreases in white and grey matter integrity in an adolescent sample while accounting for age. METHODS: We used structural (T1) imaging to study brain volumetrics and diffusion tensor imaging (DTI) to investigate white and grey matter integrity in people with autism. We obtained magnetic resonance images for adolescents aged 12-18 years with high-functioning autism and from matched controls. Fractional anisotropy and mean diffusivity, as well as grey and white matter volumetrics were analyzed. RESULTS: There were 17 participants with autism and 25 matched controls included in this study. Participants with autism had lower fractional anisotropy in the left and right superior and inferior longitudinal fasciculus, but this effect was not significant after adjusting for age and intelligence quotient (IQ). The kurtosis of the white matter fractional anisotropy probability distribution was higher in this participant group, with and without adjustment for age and IQ. Most notably, however, the mean diffusivity levels were markedly increased in the autism group throughout the brain, and the mean diffusivity probability distributions of both grey and white matter were shifted toward a higher value, particularly with age and IQ adjustment. No volumetric differences in grey and white matter were found. Limitations: We corrected for age and IQ using a linear model. The study was also limited by its sample size, investigated age range and cross-sectional design. CONCLUSION: The findings suggest that autism is characterized by a generalized reduction of white matter integrity that is associated with an increase of interstitial space. The generalized manifestation of the white matter abnormalities provides an important new perspective on autism as a connectivity disorder.
20. Johnson S, Hollis C, Hennessy E, Kochhar P, Wolke D, Marlow N. {{Screening for autism in preterm children: diagnostic utility of the Social Communication Questionnaire}}. {Arch Dis Child}. 2011 Jan;96(1):73-7.
OBJECTIVE: Preterm survivors are at high risk for autism spectrum disorders (ASD). The diagnostic utility of the Social Communication Questionnaire (SCQ) in screening for ASD was assessed in extremely preterm children at 11 years of age. DESIGN: All babies born at <26 weeks gestation in UK and Ireland from March through December 1995 were recruited to the EPICure Study. Of 307 survivors, 219 (71%) were assessed at 11 years. Parents of 173 children completed the SCQ to screen for autistic features and the Development and Well Being Assessment (DAWBA) psychiatric interview. A consensus diagnosis of ASD was assigned by two child psychiatrists following review of the DAWBA parental interview and corresponding DAWBA teacher questionnaire. SETTING: Community-based follow-up. RESULTS: Using the established SCQ cut-off (scores >/=15), 28 (16%) extremely preterm children screened positive for ASD. Eleven (6%) were assigned a diagnosis of ASD. Using this cut-off, the SCQ had 82% sensitivity and 88% specificity for identifying ASD in this population. Using a receiver operating characteristic curve, SCQ scores >/=14 had optimal diagnostic utility (area under curve: 0.94; sensitivity: 91%; specificity: 86%). Positive predictive value was relatively low (31%) resulting in numerous over-referrals. However, children with false positive screens had significantly worse neuro-developmental, cognitive and behavioural outcomes than those with true negative screens. CONCLUSION: The SCQ has good diagnostic utility for identifying ASD in extremely preterm children and is a useful screening tool in this population. Children with false positive screens represent a high-risk group in whom further diagnostic assessment would be beneficial.
21. Kana RK, Wadsworth HM, Travers BG. {{A systems level analysis of the mirror neuron hypothesis and imitation impairments in autism spectrum disorders}}. {Neurosci Biobehav Rev}. 2011 Jan;35(3):894-902.
Although several studies suggest an imitation deficit as a key feature of autism, questions have been raised about the consistency of this finding and about the component skills involved in imitation. The primary aim of this review is to examine the uneven profile of imitation deficits found in autism in the context of the mirror neuron system (MNS) dysfunction hypothesis. We use the cortical underconnectivity framework (Just et al., 2004) to examine the coordination of brain areas that orchestrate the communication between the component skills underlying imitation. A comprehensive account of imitation deficit in autism should take into account the regions that are at the core of the MNS (e.g., IFG and IPL) and related regions that feed into the MNS (e.g., STS, Cerebellum) in their functioning and in their coordination. Our findings suggest that the MNS may be associated with mediating familiarity, attention, self-other matching, and social relevance, which may be vital in characterizing the imitation deficits in autism. Such an analysis may have greater clinical and therapeutic value.
22. Kochhar P, Batty MJ, Liddle EB, Groom MJ, Scerif G, Liddle PF, et al. {{Autistic spectrum disorder traits in children with attention deficit hyperactivity disorder}}. {Child Care Health Dev}. 2011 Jan;37(1):103-10.
BACKGROUND: Current classification systems do not allow for comorbid diagnoses of attention deficit hyperactivity disorder (ADHD) and autistic spectrum disorder (ASD). Children with ADHD are often screened for ASD during clinical assessment and when recruited to clinical trials. We predicted that children with ADHD would have more autistic traits than controls and that certain traits would be more prevalent. METHODS: The clinically referred sample consisted of 30 children with ADHD and 30 matched controls aged 9-15 years. Children were screened for ASD traits using the Social Aptitudes Scale (SAS) and the Social Communication Questionnaire (SCQ). RESULTS: We found that ASD traits were significantly higher in children with ADHD than controls. None of the children received a diagnosis of autism or ASD. However, a large proportion (28% using the SCQ and 62% using the SAS) of children with ADHD reached screening thresholds for a predictive diagnosis of ASD. Relative to controls, children with ADHD had significantly higher levels of communication and social deficits, but not repetitive behaviours. CONCLUSION: Further work is needed to establish whether autistic-like communication and social difficulties in children with ADHD are part of the broader ASD phenotype or are specific to ADHD.
23. Landa RJ, Holman KC, O’Neill AH, Stuart EA. {{Intervention targeting development of socially synchronous engagement in toddlers with autism spectrum disorder: a randomized controlled trial}}. {J Child Psychol Psychiatry}. 2011 Jan;52(1):13-21.
BACKGROUND: Social and communication impairments are core deficits and prognostic indicators of autism. We evaluated the impact of supplementing a comprehensive intervention with a curriculum targeting socially synchronous behavior on social outcomes of toddlers with autism spectrum disorders (ASD). METHODS: Fifty toddlers with ASD, ages 21 to 33 months, were randomized to one of two six-month interventions: Interpersonal Synchrony or Non-Interpersonal Synchrony. The interventions provided identical intensity (10 hours per week in classroom), student-to-teacher ratio, schedule, home-based parent training (1.5 hours per month), parent education (38 hours), and instructional strategies, except the Interpersonal Synchrony condition provided a supplementary curriculum targeting socially engaged imitation, joint attention, and affect sharing; measures of these were primary outcomes. Assessments were conducted pre-intervention, immediately post-intervention, and, to assess maintenance, at six-month follow-up. Random effects models were used to examine differences between groups over time. Secondary analyses examined gains in expressive language and nonverbal cognition, and time effects during the intervention and follow-up periods. RESULTS: A significant treatment effect was found for socially engaged imitation (p = .02), with more than doubling (17% to 42%) of imitated acts paired with eye contact in the Interpersonal Synchrony group after the intervention. This skill was generalized to unfamiliar contexts and maintained through follow-up. Similar gains were observed for initiation of joint attention and shared positive affect, but between-group differences did not reach statistical significance. A significant time effect was found for all outcomes (p < .001); greatest change occurred during the intervention period, particularly in the Interpersonal Synchrony group. CONCLUSIONS: This is the first ASD randomized trial involving toddlers to identify an active ingredient for enhancing socially engaged imitation. Adding social engagement targets to intervention improves short-term outcome at no additional cost to the intervention. The social, language, and cognitive gains in our participants provide evidence for plasticity of these developmental systems in toddlers with ASD. http://www.clinicaltrials.gov/ct2/show/NCT00106210?term = landa&rank = 3.
24. Malik M, Sheikh AM, Wen G, Spivack W, Brown WT, Li X. {{Expression of inflammatory cytokines, Bcl2 and cathepsin D are altered in lymphoblasts of autistic subjects}}. {Immunobiology}. 2011 Jan-Feb;216(1-2):80-5.
To determine whether inflammation and apoptosis are involved in the pathogenesis of autism, we examined cytokines, Bcl2 expression and cathepsin D protease activity in the lymphoblasts of autistic subjects and age-matched controls. We found increased expression levels of pro-inflammatory cytokines TNF-alpha and IL-6, but decreased Bcl2 expression in lymphoblasts of autistic subjects. We also found that cathepsin D mRNA and protein expression were significantly increased in autistic lymphoblasts. Conclusion: Our findings suggest that inflammation and apoptosis may play a significant role in the pathogenesis of autism, and cathepsin D may participate in the regulation of cytokine-induced inflammation and apoptosis in autistic lymphoblasts.
25. Malisza KL, Clancy C, Shiloff D, Foreman D, Holden J, Jones C, et al. {{Functional evaluation of hidden figures object analysis in children with autistic disorder}}. {J Autism Dev Disord}. 2011 Jan;41(1):13-22.
Functional magnetic resonance imaging (fMRI) during performance of a hidden figures task (HFT) was used to compare differences in brain function in children diagnosed with autism disorder (AD) compared to children with attention-deficit/hyperactivity disorder (ADHD) and typical controls (TC). Overall greater functional MRI activity was observed in the two control groups compared to children with AD. Laterality differences were also evident, with AD subjects preferentially showing activity in the right medial temporal region while controls tended to activate the left medial temporal cortex. Reduced fMRI activity was observed in the parietal, ventral-temporal and hippocampal regions in the AD group, suggesting differences in the way that children with AD process the HFT.
26. Maljaars JP, Noens IL, Scholte EM, Verpoorten RA, van Berckelaer-Onnes IA. {{Visual local and global processing in low-functioning deaf individuals with and without autism spectrum disorder}}. {J Intellect Disabil Res}. 2011 Jan;55(1):95-105.
BACKGROUND: The ComFor study has indicated that individuals with intellectual disability (ID) and autism spectrum disorder (ASD) show enhanced visual local processing compared with individuals with ID only. Items of the ComFor with meaningless materials provided the best discrimination between the two samples. These results can be explained by the weak central coherence account. The main focus of the present study is to examine whether enhanced visual perception is also present in low-functioning deaf individuals with and without ASD compared with individuals with ID, and to evaluate the underlying cognitive style in deaf and hearing individuals with ASD. METHOD: Different sorting tasks (selected from the ComFor) were administered from four subsamples: (1) individuals with ID (n = 68); (2) individuals with ID and ASD (n = 72); (3) individuals with ID and deafness (n = 22); and (4) individuals with ID, ASD and deafness (n = 15). Differences in performance on sorting tasks with meaningful and meaningless materials between the four subgroups were analysed. Age and level of functioning were taken into account. RESULTS: Analyses of covariance revealed that results of deaf individuals with ID and ASD are in line with the results of hearing individuals with ID and ASD. Both groups showed enhanced visual perception, especially on meaningless sorting tasks, when compared with hearing individuals with ID, but not compared with deaf individuals with ID. CONCLUSIONS: In ASD either with or without deafness, enhanced visual perception for meaningless information can be understood within the framework of the central coherence theory, whereas in deafness, enhancement in visual perception might be due to a more generally enhanced visual perception as a result of auditory deprivation.
27. Minjarez MB, Williams SE, Mercier EM, Hardan AY. {{Pivotal response group treatment program for parents of children with autism}}. {J Autism Dev Disord}. 2011 Jan;41(1):92-101.
The number of children diagnosed with autism spectrum disorders is increasing, necessitating the development of efficient treatment models. Research has demonstrated that parent-delivered behavioral interventions are a viable treatment model; however, little research has focused on teaching parents in groups. The aim of this study was to demonstrate that parents can learn Pivotal Response Training (PRT) in group therapy, resulting in correlated gains in children’s language. Baseline and post-treatment data were obtained and examined for changes in (a) parent fidelity of PRT implementation, and (b) child functional verbal utterances. Significant differences were observed for both variables. These findings suggest that parents can learn PRT in a group format, resulting in correlated child language gains, thus future controlled studies are warranted.
28. Ozgen H, Hellemann GS, Stellato RK, Lahuis B, van Daalen E, Staal WG, et al. {{Morphological features in children with autism spectrum disorders: a matched case-control study}}. {J Autism Dev Disord}. 2011 Jan;41(1):23-31.
This study was designed to examine morphological features in a large group of children with autism spectrum disorder versus normal controls. Amongst 421 patients and 1,007 controls, 224 matched pairs were created. Prevalence rates and odds ratios were analyzed by conditional regression analysis, McNemar test or paired t-test matched pairs. Morphological abnormalities were significantly more prevalent in patients with autism than in the normal control group and 48 morphological features distinguished patients from controls. Our findings show that morphological features are associated with autism. Exploring potential underlying genetic mechanisms of this association might lead to a better understanding of autism.
29. Pagnamenta AT, Khan H, Walker S, Gerrelli D, Wing K, Bonaglia MC, et al. {{Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability}}. {J Med Genet}. 2011 Jan;48(1):48-54.
BACKGROUND: Autism spectrum disorder (ASD) is characterised by impairments in social communication and by a pattern of repetitive behaviours, with learning disability (LD) typically seen in up to 70% of cases. A recent study using the PPL statistical framework identified a novel region of genetic linkage on chromosome 16q21 that is limited to ASD families with LD. METHODS: In this study, two families with autism and/or LD are described which harbour rare >1.6 Mb microdeletions located within this linkage region. The deletion breakpoints are mapped at base-pair resolution and segregation analysis is performed using a combination of 1M single nucleotide polymorphism (SNP) technology, array comparative genomic hybridisation (CGH), long-range PCR, and Sanger sequencing. The frequency of similar genomic variants in control subjects is determined through analysis of published SNP array data. Expression of CDH8, the only gene disrupted by these microdeletions, is assessed using reverse transcriptase PCR and in situ hybridisation analysis of 9 week human embryos. RESULTS: The deletion of chr16: 60 025 584-61 667 839 was transmitted to three of three boys with autism and LD and none of four unaffected siblings, from their unaffected mother. In a second family, an overlapping deletion of chr16: 58 724 527-60 547 472 was transmitted to an individual with severe LD from his father with moderate LD. No copy number variations (CNVs) disrupting CDH8 were observed in 5023 controls. Expression analysis indicates that the two CDH8 isoforms are present in the developing human cortex. CONCLUSION: Rare familial 16q21 microdeletions and expression analysis implicate CDH8 in susceptibility to autism and LD.
30. Pierce K, Conant D, Hazin R, Stoner R, Desmond J. {{Preference for geometric patterns early in life as a risk factor for autism}}. {Arch Gen Psychiatry}. 2011 Jan;68(1):101-9.
CONTEXT: Early identification efforts are essential for the early treatment of the symptoms of autism but can only occur if robust risk factors are found. Children with autism often engage in repetitive behaviors and anecdotally prefer to visually examine geometric repetition, such as the moving blade of a fan or the spinning of a car wheel. The extent to which a preference for looking at geometric repetition is an early risk factor for autism has yet to be examined. OBJECTIVES: To determine if toddlers with an autism spectrum disorder (ASD) aged 14 to 42 months prefer to visually examine dynamic geometric images more than social images and to determine if visual fixation patterns can correctly classify a toddler as having an ASD. DESIGN: Toddlers were presented with a 1-minute movie depicting moving geometric patterns on 1 side of a video monitor and children in high action, such as dancing or doing yoga, on the other. Using this preferential looking paradigm, total fixation duration and the number of saccades within each movie type were examined using eye tracking technology. SETTING: University of California, San Diego Autism Center of Excellence. PARTICIPANTS: One hundred ten toddlers participated in final analyses (37 with an ASD, 22 with developmental delay, and 51 typical developing toddlers). Main Outcome Measure Total fixation time within the geometric patterns or social images and the number of saccades were compared between diagnostic groups. RESULTS: Overall, toddlers with an ASD as young as 14 months spent significantly more time fixating on dynamic geometric images than other diagnostic groups. If a toddler spent more than 69% of his or her time fixating on geometric patterns, then the positive predictive value for accurately classifying that toddler as having an ASD was 100%. CONCLUSION: A preference for geometric patterns early in life may be a novel and easily detectable early signature of infants and toddlers at risk for autism.
31. Pivac N, Knezevic A, Gornik O, Pucic M, Igl W, Peeters H, et al. {{Human plasma glycome in attention-deficit hyperactivity disorder and autism spectrum disorders}}. {Mol Cell Proteomics}. 2011 Jan;10(1):M110 004200.
Over a half of all proteins are glycosylated, and their proper glycosylation is essential for normal function. Unfortunately, because of structural complexity of nonlinear branched glycans and the absence of genetic template for their synthesis, the knowledge about glycans is lagging significantly behind the knowledge about proteins or DNA. Using a recently developed quantitative high throughput glycan analysis method we quantified components of the plasma N-glycome in 99 children with attention-deficit hyperactivity disorder (ADHD), 81 child and 5 adults with autism spectrum disorder, and a total of 340 matching healthy controls. No changes in plasma glycome were found to associate with autism spectrum disorder, but several highly significant associations were observed with ADHD. Further structural analysis of plasma glycans revealed that ADHD is associated with increased antennary fucosylation of biantennary glycans and decreased levels of some complex glycans with three or four antennas. The design of this study prevented any functional conclusions about the observed associations, but specific differences in glycosylation appears to be strongly associated with ADHD and warrants further studies in this direction.
32. Ramachandran VS, Seckel EL. {{Synchronized dance therapy to stimulate mirror neurons in autism}}. {Med Hypotheses}. 2011 Jan;76(1):150-1.
33. 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}. 2011 Jan-Feb;44(1):23-36.
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.
34. Rommelse NN, Peters CT, Oosterling IJ, Visser JC, Bons D, van Steijn DJ, et al. {{A pilot study of abnormal growth in autism spectrum disorders and other childhood psychiatric disorders}}. {J Autism Dev Disord}. 2011 Jan;41(1):44-54.
The aims of the current study were to examine whether early growth abnormalities are (a) comparable in autism spectrum disorders (ASD) and other childhood psychiatric disorders, and (b) specific to the brain or generalized to the whole body. Head circumference, height, and weight were measured during the first 19 months of life in 129 children with ASD and 59 children with non-ASD psychiatric disorders. Both groups showed comparable abnormal patterns of growth compared to population norms, especially regarding height and head circumference in relation to height. Thus abnormal growth appears to be related to psychiatric disorders in general and is mainly expressed as an accelerated growth of height not matched by an increase in weight or head circumference.
35. Sezer A, Yagci MA, Hatipoglu AR. {{The management of gastric perforation in a girl with Rett syndrome: Report of a case}}. {Brain Dev}. 2011 Jan;33(1):83-5.
Introduction: Rett syndrome is a neurologically disorder that affects approximately one in 10,000 females. Case report: A 21-year-old girl with Rett syndrome was hospitalized for abdominal distention and pain. Physical examination revealed abdominal tenderness. Radiology investigation revealed bilateral free air in subdiaphragmatic area. Gastric perforation observed at laparotomy. Primary suturing and omentoplasty were performed. In the follow-up, the symptoms of intestinal obstruction occurred. Conservative treatment failed and second intervention was performed. At laparotomy severe gastric and intestinal dilatation and bowel adhesions were detected. Adhesiolysis, tube gastrostomy, and feeding jejunostomy performed. Discussion: Rett syndrome and associated gastric complications are uncommon. These pathologic disorders may cause gastric, intestinal necrosis, intestinal obstructions. Because of the late occurring of physical findings and insidious presentation of the gastrointestinal perforations in Rett syndrome, physicians should keep in mind this rare entity to reduce morbidity and mortality.
36. Solomon M, Buaminger N, Rogers SJ. {{Abstract reasoning and friendship in high functioning preadolescents with autism spectrum disorders}}. {J Autism Dev Disord}. 2011 Jan;41(1):32-43.
To investigate the relationship between cognitive and social functioning, 20 Israeli individuals with HFASD aged 8-12 and 22 age, maternal education, and receptive vocabulary-matched preadolescents with typical development (TYP) came to the lab with a close friend. Measures of abstract reasoning, friendship quality, and dyadic interaction during a play session were obtained. As hypothesized, individuals with HFASD were significantly impaired in abstract reasoning, and there were significant group differences in friend and observer reports of friendship quality. There also was consistency in reports between friends. Two factors-« relationship appearance » and « relationship quality » described positive aspects of the relationships. Disability status and age related to relationship appearance. Proband abstract reasoning was related to relationship quality.
37. South M, Dana J, White SE, Crowley MJ. {{Failure is Not an Option: Risk-Taking is Moderated by Anxiety and Also by Cognitive Ability in Children and Adolescents Diagnosed with an Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2011 Jan;41(1):55-65.
Understanding hetereogeneity in symptom expression across the autism spectrum disorders (ASD) is a major challenge for identifying causes and effective treatments. In 40 children and adolescents diagnosed with ASD and 37 IQ-and age-matched comparison participants (the TYP group), we found no differences in summary measures on an experimental risk-taking task. However, anxiety and IQ predicted risk-taking only in the ASD group. Risk-taking was correlated with behavioral inhibition in the ASD group and behavioral activation in the TYP group. We suggest that performance on the task was motivated by fear of failure in the ASD group and by sensitivity to reward in the TYP group. Behavioral markers of anxiety and cognitive ability may improve conceptualization of heterogeneity in ASD.
38. Stamova B, Green PG, Tian Y, Hertz-Picciotto I, Pessah IN, Hansen R, et al. {{Correlations between gene expression and mercury levels in blood of boys with and without autism}}. {Neurotox Res}. 2011 Jan;19(1):31-48.
Gene expression in blood was correlated with mercury levels in blood of 2- to 5-year-old boys with autism (AU) compared to age-matched typically developing (TD) control boys. This was done to address the possibility that the two groups might metabolize toxicants, such as mercury, differently. RNA was isolated from blood and gene expression assessed on whole genome Affymetrix Human U133 expression microarrays. Mercury levels were measured using an inductively coupled plasma mass spectrometer. Analysis of covariance (ANCOVA) was performed and partial correlations between gene expression and mercury levels were calculated, after correcting for age and batch effects. To reduce false positives, only genes shared by the ANCOVA models were analyzed. Of the 26 genes that correlated with mercury levels in both AU and TD boys, 11 were significantly different between the groups (P(Diagnosis*Mercury) </= 0.05). The expression of a large number of genes (n = 316) correlated with mercury levels in TD but not in AU boys (P </= 0.05), the most represented biological functions being cell death and cell morphology. Expression of 189 genes correlated with mercury levels in AU but not in TD boys (P </= 0.05), the most represented biological functions being cell morphology, amino acid metabolism, and antigen presentation. These data and those in our companion study on correlation of gene expression and lead levels show that AU and TD children display different correlations between transcript levels and low levels of mercury and lead. These findings might suggest different genetic transcriptional programs associated with mercury in AU compared to TD children.
39. Stieglitz Ham H, Bartolo A, Corley M, Rajendran G, Szabo A, Swanson S. {{Exploring the relationship between gestural recognition and imitation: evidence of dyspraxia in autism spectrum disorders}}. {J Autism Dev Disord}. 2011 Jan;41(1):1-12.
In this study, the relationship between gesture recognition and imitation was explored. Nineteen individuals with Autism Spectrum Disorder (ASD) were compared to a control group of 23 typically developing children on their ability to imitate and recognize three gesture types (transitive, intransitive, and pantomimes). The ASD group performed more poorly than controls on all tasks of recognition and imitation. Higher performance on tests of working memory was associated with increased odds of successful imitation in both groups. Group differences remained even when working memory was statistically controlled for. An association was revealed in the ASD group between pantomime recognition and imitation but a similar association was not identified for intransitive gestures suggesting that recognition alone is not sufficient for imitation success.
40. Temudo T, Santos M, Ramos E, Dias K, Vieira JP, Moreira A, et al. {{Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes}}. {Brain Dev}. 2011 Jan;33(1):69-76.
Background: The diagnosis of Rett syndrome (RTT) is based on a set of clinical criteria, irrespective of mutation status. The aims of this study were (1) to define the clinical differences existing between patients with Rett syndrome with (Group I) and without a MECP2 mutation (Group II), and (2) to characterize the phenotypes associated with the more common MECP2 mutations. Patients and methods: We analyzed 87 patients fulfilling the clinical criteria for RTT. All were observed and videotaped by the same paediatric neurologist. Seven common mutations were considered separately, and associated clinical features analysed. Results: Comparing Group I and II, we found differences concerning psychomotor development prior to onset, acquisition of propositive manipulation and language, and evolving autistic traits. Based on age at observation, we found differences in eye pointing, microcephaly, growth, number of stereotypies, rigidity, ataxia and ataxic-rigid gait, and severity score. Patients with truncating differed from those with missense mutations regarding acquisition of propositive words and independent gait, before the beginning of the disease, and microcephaly, growth, foot length, dystonia, rigidity and severity score, at the time of observation. Patients with the R168X mutation had a more severe phenotype, whereas those with R133C showed a less severe one. Patients with R294X had a hyperactive behaviour, and those with T158M seemed to be particularly ataxic and rigid. Conclusion: A clear regressive period (with loss of prehension and language, deceleration of growth) and the presence of more than three different stereotypies, rigidity and ataxic-rigid gait seemed to be very helpful in differentiating Group I from Group II.
41. Tian Y, Green PG, Stamova B, Hertz-Picciotto I, Pessah IN, Hansen R, et al. {{Correlations of gene expression with blood lead levels in children with autism compared to typically developing controls}}. {Neurotox Res}. 2011 Jan;19(1):1-13.
The objective of this study was to examine the correlation between gene expression and lead (Pb) levels in blood in children with autism (AU, n = 37) compared to typically developing controls (TD, n = 15). We postulated that, though lead levels did not differ between the groups, AU children might metabolize lead differently compared to TD children. RNA was isolated from blood and processed on Affymetrix microarrays. Separate analyses of covariance (ANCOVA) corrected for age and gender were performed for TD, AU, and all subjects (AU + TD). To reduce false positives, only genes that overlapped these three ANCOVAs were considered. Thus, 48 probe sets correlated with lead levels in both AU and TD subjects and were significantly different between the groups (p(Diagnosis x log(2) Pb) < 0.05). These genes were related mainly to immune and inflammatory processes, including MHC Class II family members and CD74. A large number (n = 791) of probe sets correlated (P </= 0.05) with lead levels in TD but not in AU subjects; and many probe sets (n = 162) correlated (P </= 0.05) with lead levels in AU but not in TD subjects. Only 30 probe sets correlated (P </= 0.05) with lead levels in a similar manner in the AU and TD groups. These data show that AU and TD children display different associations between transcript levels and low levels of lead. We postulate that this may relate to the underlying genetic differences between the two groups, though other explanations cannot be excluded.
42. Totsika V, Hastings RP, Emerson E, Lancaster GA, Berridge DM. {{A population-based investigation of behavioural and emotional problems and maternal mental health: associations with autism spectrum disorder and intellectual disability}}. {J Child Psychol Psychiatry}. 2011 Jan;52(1):91-9.
BACKGROUND: While research indicates elevated behavioural and emotional problems in children with autism spectrum disorders (ASD) and decreased well-being in their parents, studies do not typically separate out the contribution of ASD from that of associated intellectual disabilities (ID). We investigated child behavioural and emotional problems, and maternal mental health, among cases with and without ASD and ID in a large population-representative sample. METHODS: Cross-sectional comparison of child behavioural and emotional problems and maternal mental health measures among 18,415 children (5 to 16 years old), of whom 47 had an ASD, 51 combined ASD with ID, 590 had only ID, and the remainder were the comparison group with no ASD or ID. RESULTS: The prevalence of likely clinical levels of behavioural and emotional problems was highest among children with ASD (with and without ID). After controlling for age, gender, adversity, and maternal mental health, the presence of ASD and ID significantly and independently increased the odds for hyperactivity symptoms, conduct, and emotional problems. Emotional disorder was more prevalent in mothers of children with ASD (with or without ID). The presence of ASD, but not ID, significantly increased the odds for maternal emotional disorder. As has been found in previous research, positive maternal mental health was not affected by the presence of ASD or ID. CONCLUSIONS: ASD and ID are independent risk factors for behavioural and emotional problems. ASD (but not ID) is positively associated with maternal emotional disorder. Approaches to diagnosing hyperactivity and conduct problems in children with ASD may need to be reconsidered.
43. Tracy JL, Robins RW, Schriber RA, Solomon M. {{Is emotion recognition impaired in individuals with autism spectrum disorders?}}. {J Autism Dev Disord}. 2011 Jan;41(1):102-9.
Researchers have argued that individuals with autism spectrum disorders (ASDs) use an effortful « systematizing » process to recognize emotion expressions, whereas typically developing (TD) individuals use a more holistic process. If this is the case, individuals with ASDs should show slower and less efficient emotion recognition, particularly for socially complex emotions. We tested this account by assessing the speed and accuracy of emotion recognition while limiting exposure time and response window. Children and adolescents with ASDs showed quick and accurate recognition for most emotions, including pride, a socially complex emotion, and no differences emerged between ASD and TD groups. Furthermore, both groups trended toward higher accuracy when responding quickly, even though systematizing should promote a speed-accuracy trade-off for individuals with ASDs.
44. Whitehouse AJ, Hickey M, Stanley FJ, Newnham JP, Pennell CE. {{Brief report: a preliminary study of fetal head circumference growth in autism spectrum disorder}}. {J Autism Dev Disord}. 2011 Jan;41(1):122-9.
Fetal head circumference (HC) growth was examined prospectively in children with autism spectrum disorder (ASD). ASD participants (N = 14) were each matched with four control participants (N = 56) on a range of parameters known to influence fetal growth. HC was measured using ultrasonography at approximately 18 weeks gestation and again at birth using a paper tape-measure. Overall body size was indexed by fetal femur-length and birth length. There was no between-groups difference in head circumference at either time-point. While a small number of children with ASD had disproportionately large head circumference relative to body size at both time-points, the between-groups difference did not reach statistical significance in this small sample. These preliminary findings suggest that further investigation of fetal growth in ASD is warranted.
45. Xiong N, Yang L, Yu Y, Hou J, Li J, Li Y, et al. {{Investigation of raising burden of children with autism, physical disability and mental disability in China}}. {Res Dev Disabil}. 2011 Jan-Feb;32(1):306-11.
The family economic burden of raising autistic children, physical disabled children and mental disabled children were evaluated in China. 227 parents of children with autism, children with physical disability, children with mental disability and normal children were interviewed for children’s costs, family income and economic assistance, etc. The medical cost and caring cost of disabled children were significantly more than those of normal children, and the education cost, clothes cost and amusement cost of disabled children were significantly less than those of normal children. Family income was only predicted by parents’ education level. Families of disabled children received more economic assistance than families of normal children except families of autistic children. More children the family had, less economic assistance the family acquired. Compared with normal children, the raising burden of children with disabilities were as follows: children with autism (19582.4 RMB per year), children with physical disability (16410.1 RMB per year), children with mental disability (6391.0 RMB per year). Families of autistic children, physical disabled children and mental disabled children have heavier raising burden than families of normal children, they need more help from many aspects.
46. Young D, Bebbington A, de Klerk N, Bower C, Nagarajan L, Leonard H. {{The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome population}}. {Res Autism Spectr Disord}. 2011 Jan;5(1):442-9.
This study aimed to investigate the trajectories over time of health status and health service use in Rett syndrome by mutation type. Data were obtained from questionnaires administered over six years to 256 participants from the Australian Rett Syndrome Database. Health status (episodes of illness and medication load) and health service use (general practitioner and specialist visits and hospital stays) were summarized into composite scores with Principal Component Analysis. Linear and mixed regression models examined effects of mutation type and other variables on these scores over time. For some mutations (such as p.R255X, p.R168X) health status was poorer at a younger age and improved over time, while for p.R133C it was better at a younger age and deteriorated with time. For those with p.R133C health service use was lowest at a younger age and highest at 25 years. With other mutations, such as p.R255X, p.R270X, p.R294X, C terminal and p.R306C, health service use was higher at a younger age, but dropped off considerably by 25 years of age. Health service use generally declined in parallel with deterioration in health status, although this pattern differed by mutation type, demonstrating important variability in the course of Rett syndrome.
