1. {{The significance of ileo-colonic lymphoid nodular hyperplasia in children with autistic spectrum disorder: Expression of concern}}. {Eur J Gastroenterol Hepatol};2011 (Nov);23(11):1082.
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2. Acarlar F, Johnston JR. {{Acquisition of Turkish grammatical morphology by children with developmental disorders}}. {Int J Lang Commun Disord};2011 (Nov);46(6):728-738.
Background: Many children with specific language impairment, Down syndrome or autism spectrum disorder have difficulty learning grammatical morphology, especially forms associated with the verb phrase. However, except for Hebrew, the evidence thus far has come from Indo-European languages. Aims: This study investigates the acquisition of grammatical morphology by Turkish-speaking children with developmental disorders. Syntactic, perceptual and usage features of this non-Indo-European language were predicted to lead to patterns of atypical learning that would challenge and broaden current views. Methods & Procedures: Language samples were collected from 30 preschoolers learning Turkish: ten with developmental disorders, ten matched by age and ten by length of utterance. T-SALT then generated mean length of utterance, the total number of noun errors, the total number of verb errors and the per cent use in obligatory contexts for noun suffixes. Analyses also looked at the potential effects of input frequency on order of acquisition. Outcomes & Results: Turkish children in the MLU-W control group, aged 3;4, used noun and verb suffixes with virtually no errors. Children in the group with atypical language showed more, and more persistent, morphological errors than either age or language peers, especially on noun suffixes. Children in the ALD and MLU-W groups were acquiring noun case suffixes in an order that is strongly related to input frequencies. Conclusions & Implications: These findings seem to reflect the influence of salience, regularity and frequency on language learning. Typical child-adult discourse patterns as well as the canonical SOV Turkish word order make verb suffixes perceptually salient, available in working memory and frequently repeated. The findings support the view that the language patterns seen in children with atypical development will differ from one language type to the next. They also suggest that regardless of language or syntactic class, children will have greater difficulty with those features of grammar that have higher cognitive processing costs.
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3. Adler K, Moore JK, Filippov G, Wu S, Carmichael J, Schermer M. {{A novel assay for evaluating fragile x locus repeats}}. {J Mol Diagn};2011 (Nov);13(6):614-620.
We have developed a novel fragile X locus repeat assay that is a simple and high-throughput method that, with clinical validation, may be suitable for screening. It uses amplification of the FMR1 trinucleotide repeat region, followed by a hybridization assay to quantify the number of repeats in the amplicons. To our knowledge, this is the first repeat-counting assay that uses fluorescent signals rather than electrophoresis or mass spectrometry as the signaling mechanism. We also report the development of a simple microfluidic electrophoresis reflex test that uses the same amplicons and reduces the need for Southern blots to differentiate homozygous female normal samples from full mutations. The new assay, which is based on a suspension-array hybridization method, was tested on a series of male and female reference samples spanning the range from normal to full mutations. It was also tested on DNA from 1008 dried blood spot samples from pregnant women in their first trimester. The hybridization assay identified 51 of those as potentially expanded alleles of >/=45 repeats or as intermediate or higher in FMR1 repeat classification. Of these screen-positive samples, eight were confirmed by microfluidic electrophoresis as premutations consisting of >/=55 repeats. The FMR1 repeat assay is straightforward to run in high throughput, and the results are in the form of numerical ratios for ease of initial interpretation.
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4. Albuquerque SC, Carvalho ER, Lopes RS, Marques HS, Macedo DS, Pereira ED, Hyphantis TN, Carvalho AF. {{Ego defense mechanisms in COPD: impact on health-related quality of life and dyspnoea severity}}. {Qual Life Res};2011 (Nov);20(9):1401-1410.
PURPOSE: To assess chronic obstructive pulmonary disorder (COPD) patients’ defensive profile compared with healthy participants and to test whether specific ego defense mechanisms are associated with health-related quality of life (HRQoL) and self-reported dyspnoea severity. METHODS: In a cross-sectional study, we assessed, in 80 patients with COPD and 80 age- and gender-matched healthy participants, psychological distress (Hospital Anxiety and Depression Scale) and defense mechanisms/styles (Defense Style Questionnaire). Patients had their HRQoL evaluated with the St. George’s Respiratory Questionnaire and underwent a comprehensive clinical evaluation with determination of functional parameters and dyspnoea severity. RESULTS: COPD patients presented higher scores in undoing, acting out, autistic fantasy, denial, and splitting defenses compared with healthy controls. Overall, patients showed a more immature (P = 0.001) and/or neurotic (P = 0.006) defensive profile. Higher scores of denial (P = 0.044), somatization (P = 0.009), and undoing (P = 0.032) defenses were associated with poorer HRQoL, independently of the anticipated significant associations of clinical and psychological distress variables with impaired HRQoL. Somatization was strongly independently associated with more severe self-reported dyspnoea. CONCLUSIONS: COPD patients exhibit a relatively immature and neurotic defensive profile. Clinicians and consultation-liaison psychiatrists should consider the patients’ underlying personality structure, especially somatization tendencies, since it is independently associated with HRQoL and dyspnoea severity.
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5. Amin SB, Smith T, Wang H. {{Is neonatal jaundice associated with autism spectrum disorders: a systematic review}}. {J Autism Dev Disord};2011 (Nov);41(11):1455-1463.
Using guidelines of the Meta-analysis of Observational Studies in Epidemiology Group, we systematically reviewed the literature on neonatal jaundice (unconjugated hyperbilirubinemia) and Autism Spectrum Disorder (ASD) in term and preterm infants. Thirteen studies were included in a meta-analysis. Most used retrospective matched case-control designs. There was significant heterogeneity (Q = 31, p = 0.002) and no evidence of publication bias (p = 0.12). Overall, jaundice, assessed by total serum bilirubin (TSB), was associated with ASD (OR, 1.43, 95% CI 1.22-1.67, random effect model). This association was not found in preterms (OR 0.7, 95% CI 0.38-1.02) but deserves further investigation since other measures of bilirubin such as unbound unconjugated bilirubin may be better predictors of neurotoxicity than TSB in preterms.
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6. Angelidou A, Alysandratos KD, Asadi S, Zhang B, Francis K, Vasiadi M, Kalogeromitros D, Theoharides TC. {{Brief report: « allergic symptoms » in children with autism spectrum disorders. More than meets the eye?}}. {J Autism Dev Disord};2011 (Nov);41(11):1579-1585.
Many children with Autism Spectrum Disorders (ASD) have either family and/or personal history of « allergic symptomatology », often in the absence of positive skin or RAST tests. These symptoms may suggest mast cell activation by non-allergic triggers. Moreover, children with mastocytosis or mast cell activation syndrome (MCAS), a spectrum of rare diseases characterized by increased number of activated mast cells in many organs, appear to have ASD at a rate tenfold higher (1/10 children) than that of the general population (1/100 children). Mast cell activation by allergic, infectious, environmental and stress-related triggers, especially perinatally, would release pro-inflammatory and neurotoxic molecules. We speculate these could disrupt the gut-blood-brain barriers, thus contributing to brain inflammation and ASD pathogenesis. Increased mast cell responsiveness may define at least a subgroup of ASD subjects, who could benefit from inhibition of mast cell activation.
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7. Badia M, Orgaz BM, Verdugo MA, Ullan AM, Martinez MM. {{Personal factors and perceived barriers to participation in leisure activities for young and adults with developmental disabilities}}. {Res Dev Disabil};2011 (Nov);32(6):2055-2063.
Participation in leisure activities has been identified as a factor that favors inclusion in the community and it also contributes to a better quality of life. This study analyzed the influence of certain personal characteristics and environmental factors in the participation in leisure activities of youngsters and adults with developmental disabilities. A cross-sectional design was used with a convenience sample of 237 people, aged 17-65, living in the community. The participants completed the Spanish version of the Leisure Assessment Inventory, and information about the personal and disability-related factors was obtained through a questionnaire. Multiple regression analyses were conducted to determine the personal factors, disability-related factors, and perceived barriers to leisure participation. The results show that participation in leisure activities is determined more by personal factors and perceived barriers than by disability-related factors.
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8. Baret L, Godard B. {{Opinions and intentions of parents of an autistic child toward genetic research results: two typical profiles}}. {Eur J Hum Genet};2011 (Nov);19(11):1127-1132.
Returning results to research participants is increasingly acknowledged in research ethics guidelines. But few research teams actually do it or provide mechanisms for offering it as an option. We explored the perspective of parents of an autistic child participating in genetic research. In all, 388 questionnaires were sent to 194 parents; 158 questionnaires were completed (89 mothers and 69 fathers), giving a response rate of 41%. 97% of respondents (n=153) fully expressed a strong desire to receive research results, either general or individual ones. The survey solicited parents’ opinions as to what means could be put in place to return research results. The majority held the research team responsible for returning individual results (79.7%, n=126). They indicated that it should occur at the completion of the research project (69%, n=109), by mail (75.3%, n=119). Over three quarters felt the Ministry of Health should cover the associated costs (77.8%, n=123). If the communication of individual findings, whether positive or negative, were to be possible, these would allow some respondents ‘to be prepared for the future’ (37%, n=57), without necessarily having practical benefits (21%, n=32), but at least bringing them ‘relief or understanding’ (14%, n=21). Moreover, parents were clear about the difference between research and clinical settings. This study underlines the importance of broadening the discussion about the communication of research results, especially individual ones. We believe that the integration of different perspectives – those of researchers, clinicians, ethics committees and participants – will enrich the debate and offer enlightenment for future ethical guidelines.
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9. Barnes JL, Baron-Cohen S. {{The Big Picture: Storytelling Ability in Adults with Autism Spectrum Conditions}}. {J Autism Dev Disord};2011 (Nov 1)
Previous work on story-telling ability in autism spectrum conditions (ASC) has found a pattern of relatively intact use of story grammar in ASC narratives; however, prior analysis has concentrated primarily on whether specific story components are included, rather than how they are included. The present study analyzes an existing narrative dataset, concentrating on the kind of information that individuals with and without high functioning autism or Asperger syndrome include about story elements such as setting, character, conflict, and resolution. This analysis showed that individuals with ASC are biased toward providing local over global details about each element, regardless of whether the element involved mental content. These results are discussed in terms of the Weak Central Coherence and Hyper-Systemizing theories.
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10. Barrett B, Byford S, Sharac J, Hudry K, Leadbitter K, Temple K, Aldred C, Slonims V, Green J. {{Service and Wider Societal Costs of Very Young Children with Autism in the UK}}. {J Autism Dev Disord};2011 (Nov 1)
Autism spectrum disorders are associated with a substantial economic burden, but there is little evidence of the costs in the early years; the period in which children are increasingly likely to be diagnosed. We describe the services used by 152 children aged 24-60 months with autism, report family out-of-pocket expenses and productivity losses, and explore the relationship between family characteristics and costs. Children received a wide range of hospital and community services including relatively high levels of contact with speech and language therapists and paediatricians. Total service costs varied greatly (mean pound430 per month; range pound53- pound1,116), with some families receiving little statutory support. Higher costs were associated with increasing age and symptom severity.
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11. Barry S, Baird G, Lascelles K, Bunton P, Hedderly T. {{Neurodevelopmental movement disorders – an update on childhood motor stereotypies}}. {Dev Med Child Neurol};2011 (Nov);53(11):979-985.
Aim The term ‘stereotypies’ encompasses a diverse range of movements, behaviours, and/or vocalizations that are repetitive, lack clear function, and sometimes appear to have a negative impact upon an individual’s life. This review aims to describe motor stereotypies. Method This study reviewed the current literature on the nature, aetiology, and treatment of motor stereotypies. Results Motor stereotypies occur commonly but not exclusively in autistic spectrum disorders. Similar movements are also found in otherwise healthy children and those suffering sensory impairment, social isolation, or severe intellectual disabilities; they may be persistent over time. Although often difficult, it is possible to define and differentiate stereotypies from other movement disorders such as tics through features of the history, such as earlier onset and examination, together with the presence or absence of associated neurological impairment or developmental difficulties. Co-occurrence with other disorders affecting frontostriatal brain systems, including attention-deficit-hyperactivity disorder, obsessive-compulsive disorder, and tic disorders, is common. Interpretation The underlying function of motor stereotypies remains unclear but may include the maintenance of arousal levels. A neurogenetic aetiology is proposed but requires further study. When treatment is sought, there are both pharmacological and behavioural options. Behavioural treatments for motor stereotypies may in time be shown to be most effective; however, they are difficult to implement in children younger than 7 years old.
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12. Bayliss AP, Kritikos A. {{Brief report: perceptual load and the autism spectrum in typically developed individuals}}. {J Autism Dev Disord};2011 (Nov);41(11):1573-1578.
A fundamental task of the cognitive system is to prioritize behaviourally relevant sensory inputs for processing at the expense of irrelevant inputs. In a study of neurotypical participants (n = 179), we utilized a brief flanker interference task while varying the perceptual load of the visual display. Typically, increasing perceptual load (i.e., with greater numbers of search items) reduces interference from a competing peripheral distractor. We show that individuals who score above average on the Autism Spectrum Quotient (AQ) show stronger interference at high perceptual load than individuals with below-average AQ scores. This is consistent with recent findings in individuals with autism spectrum conditions, and supports the idea that the cognitive style of the autistic brain is reflected in a broader phenotype across the population.
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13. Bhogal B, Jepson JE, Savva YA, Pepper AS, Reenan RA, Jongens TA. {{Modulation of dADAR-dependent RNA editing by the Drosophila fragile X mental retardation protein}}. {Nat Neurosci};2011 (Oct 30)
Loss of FMR1 gene function results in fragile X syndrome, the most common heritable form of intellectual disability. The protein encoded by this locus (FMRP) is an RNA-binding protein that is thought to primarily act as a translational regulator; however, recent studies have implicated FMRP in other mechanisms of gene regulation. We found that the Drosophila fragile X homolog (dFMR1) biochemically interacted with the adenosine-to-inosine RNA-editing enzyme dADAR. Adar and Fmr1 mutant larvae exhibited distinct morphological neuromuscular junction (NMJ) defects. Epistasis experiments based on these phenotypic differences revealed that Adar acts downstream of Fmr1 and that dFMR1 modulates dADAR activity. Furthermore, sequence analyses revealed that a loss or overexpression of dFMR1 affects editing efficiency on certain dADAR targets with defined roles in synaptic transmission. These results link dFMR1 with the RNA-editing pathway and suggest that proper NMJ synaptic architecture requires modulation of dADAR activity by dFMR1.
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14. Bird G, Press C, Richardson DC. {{The role of alexithymia in reduced eye-fixation in autism spectrum conditions}}. {J Autism Dev Disord};2011 (Nov);41(11):1556-1564.
Eye-tracking studies have demonstrated mixed support for reduced eye fixation when looking at social scenes in individuals with Autism Spectrum Conditions (ASC). We present evidence that these mixed findings are due to a separate condition-alexithymia-that is frequently comorbid with ASC. We find that in adults with ASC, autism symptom severity correlated negatively with attention to faces when watching video clips. However, only the degree of alexithymia, and not autism symptom severity, predicted eye fixation. As well as potentially resolving the contradictory evidence in this area, these findings suggest that individuals with ASC and alexithymia may form a sub-group of individuals with ASC, with emotional impairments in addition to the social impairments characteristic of ASC.
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15. Brambring M. {{Response to Hobson’s Letter: Congenital Blindness and Autism}}. {J Autism Dev Disord};2011 (Nov);41(11):1595-1597.
Contrary scientific positions between Hobson and Brambring regarding the connectedness of congenital blindness and autism.
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16. Bray S, Hirt M, Jo B, Hall SS, Lightbody AA, Walter E, Chen K, Patnaik S, Reiss AL. {{Aberrant Frontal Lobe Maturation in Adolescents with Fragile X Syndrome is Related to Delayed Cognitive Maturation}}. {Biol Psychiatry};2011 (Nov 1);70(9):852-858.
BACKGROUND: Fragile X syndrome (FXS) is the most common known heritable cause of intellectual disability. Prior studies in FXS have observed a plateau in cognitive and adaptive behavioral development in early adolescence, suggesting that brain development in FXS may diverge from typical development during this period. METHODS: In this study, we examined adolescent brain development using structural magnetic resonance imaging data acquired from 59 individuals with FXS and 83 typically developing control subjects aged 9 to 22, a subset of whom were followed up longitudinally (1-5 years; typically developing: 17, FXS: 19). Regional volumes were modeled to obtain estimates of age-related change. RESULTS: We found that while structures such as the caudate showed consistent volume differences from control subjects across adolescence, prefrontal cortex (PFC) gyri showed significantly aberrant maturation. Furthermore, we found that PFC-related measures of cognitive functioning followed a similarly aberrant developmental trajectory in FXS. CONCLUSIONS: Our findings suggest that aberrant maturation of the PFC during adolescence may contribute to persistent or increasing intellectual deficits in FXS.
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17. Breau LM, Camfield CS. {{Pain disrupts sleep in children and youth with intellectual and developmental disabilities}}. {Res Dev Disabil};2011 (Nov);32(6):2829-2840.
Both chronic pain and sleep problems are common for children with intellectual and developmental disabilities (IDD). Although one study has revealed a relationship between having a medical condition and sleep problems in this population, the role of pain was not examined independently. Thus, the goal of this study was to clarify the specific role of pain in children’s sleep problems. Caregivers of 123 children with IDD (67 male; mean age=10 years, 7 months (SD=49.7 months)) completed the Children’s Sleep Habits Questionnaire (CHSQ) and provided information about children’s pain, function and demographic characteristics. Children were grouped as having: No Pain (86), Treated Pain (21), or Untreated Pain (16). A Multivariate Analysis of Variance (MANOVA) indicated children who had pain had significantly more sleep problems overall (F(16, 222)=2.2, p=.005), and more Night Wakings (F(2, 118)=3.1, p=.05), Parasomnias (F(2, 118)=5.0, p=.009) and Sleep Disordered Breathing (F(2, 118)=5.1, p=.008) in particular. The pattern of sleep problems varied due to whether the child was taking pain medication. Children with pain also had significantly shorter typical sleep duration (F(2, 112)=3.5, p=0.035). The presence of sleep problems did not vary due to functional level or whether children were taking sleep medications. However, parents of children who were taking sleep medications reported that both Bedtime Resistance (F(1, 121)=5.7, p=.019) and Sleep Duration (F(1, 121)=6.0, p=.016) were more problematic for them. This data indicates pain disrupts sleep in children with IDD even when it is being managed pharmacologically, suggesting pain treatment may not be effective. These results suggest that pain should be considered during evaluation and management of sleep problems in children with IDD.
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18. Brown HM, Klein PD. {{Writing, asperger syndrome and theory of mind}}. {J Autism Dev Disord};2011 (Nov);41(11):1464-1474.
This research compared the written compositions of 16 adults with high-functioning autism spectrum disorders and 16 neurotypical control participants, and examined the influence of theory of mind on their writing. Participants ranging in age from 17 years to 42 years, matched on Vocabulary subtest scores from the Wechsler Adult Intelligence Scale (1997), completed the Social Attribution Task and wrote an expository and a narrative text. Texts were assessed on 18 variables representing quality, mechanics, and length. It was found that adults with HFASD wrote lower quality narrative and expository texts, and narratives of shorter length. Theory of mind was positively associated with writing quality and text length across both genres.
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19. Bruno DL, White SM, Ganesamoorthy D, Burgess T, Butler K, Corrie S, Francis D, Hills L, Prabhakara K, Ngo C, Norris F, Oertel R, Pertile MD, Stark Z, Amor DJ, Slater HR. {{Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping}}. {J Med Genet};2011 (Oct 29)
BackgroundSeveral recent studies have demonstrated the use of single nucleotide polymorphism (SNP) arrays for the investigation of intellectual disability, developmental delay, autism or congenital abnormalities. In addition to LogR ‘copy number’ data, these arrays provide SNP genotyping data for gene level autozygosity mapping, estimating low levels of mosaicism, assessing long continuous stretches of homozygosity (LCSH), detection of uniparental disomy, and ‘autozygous’ regions. However, there remains little specific information on the clinical utility of this genotyping data.MethodsMolecular karyotyping, using SNP array, was performed on 5000 clinical samples.ResultsClinically significant ‘LogR neutral’ genotyping abnormalities were detected in 0.5% of cases. Among these were a single case of chimerism, 12 cases with low level chromosome mosaicism, and 11 cases with an LCSH associated with uniparental disomy. In addition, the genotyping data revealed several LCSH associated with clinically relevant ‘recessive type’ genetic defects.ConclusionsThese results demonstrate the utility of SNP genotyping data for detection of clinically significant abnormalities, including chimerism/mosaicism and recessive Mendelian disorders associated with autozygosity. The incidence of clinically significant low level mosaicism inferred from these cases suggests that this has hitherto been underestimated and chromosome mosaicism frequently occurs in the absence of indicative clinical features. The growing appreciation among clinicians and demand for SNP genotyping data poses significant challenges for the interpretation of LCSH, especially where there is no detailed phenotypic description to direct laboratory analysis. Finally, reporting of unexpected or hidden consanguinity revealed by SNP array analysis raises potential ethical and legal issues.
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20. Campbell M, Reynolds L, Cunningham J, Minnis H, Gillberg CG. {{Autism in Glasgow: cumulative incidence and the effects of referral age, deprivation and geographical location}}. {Child Care Health Dev};2011 (Nov 1)
Background Referrals to the Greater Glasgow Community Autism Team (CAT) made before the child’s sixth birthday were analysed to obtain an estimation of the proportion of children in Greater Glasgow with childhood autism and investigate whether there were any variations in diagnosis rates, or in age at referral and diagnosis, depending on deprivation or geographical location. Methods An analysis was made of the database recording referrals to Greater Glasgow CAT, between 2004 and 2007 inclusive, of children referred by age 6 years, comprising 584 cases. Cumulative incidence was calculated for childhood autism. Ages at referral and diagnosis were also analysed. Results For this subset of children, there were 246 diagnosed cases of childhood autism, a cumulative incidence from 2004 until 2007 of 11.1 per year per 10 000 children aged 0-6 years. Of children with an eventual diagnosis of autism by age 6, 72% were referred by the age of 4 years. Deprivation was found to have an association with referral and diagnostic rates, with higher rates seen in the most deprived. There was geographical variation in the cumulative incidence of autism. Conclusion Given that the populations were not known to differ in any manner that would lead to a true variation, the geographical variation in the cumulative incidence of autism in children up to 6 years in Greater Glasgow observed in this study is likely to represent differences in the care pathway between areas. Such differences may also explain the observed association with deprivation. Reasons for the variation are being explored.
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21. Carayol J, Sacco R, Tores F, Rousseau F, Lewin P, Hager J, Persico AM. {{Converging Evidence for an Association of ATP2B2 Allelic Variants with Autism in Male Subjects}}. {Biol Psychiatry};2011 (Nov 1);70(9):880-887.
BACKGROUND: Autism is a severe developmental disorder, with strong genetic underpinnings. Previous genome-wide scans unveiled a linkage region spanning 3.5 Mb, located on human chromosome 3p25. This region encompasses the ATP2B2 gene, encoding the plasma membrane calcium-transporting ATPase 2 (PMCA2), which extrudes calcium (Ca(2+)) from the cytosol into the extracellular space. Multiple lines of evidence support excessive intracellular Ca(2+) signaling in autism spectrum disorder (ASD), making ATP2B2 an attractive candidate gene. METHODS: We performed a family-based association study in an exploratory sample of 277 autism genetic resource exchange families and in a replication sample including 406 families primarily recruited in Italy. RESULTS: Several markers were significantly associated with ASD in the exploratory sample, and the same risk alleles at single nucleotide polymorphisms rs3774180, rs2278556, and rs241509 were found associated with ASD in the replication sample after correction for multiple testing. In both samples, the association was present in male subjects only. Markers associated with autism are all comprised within a single block of strong linkage disequilibrium spanning several exons, and the « risk » allele seems to follow a recessive mode of transmission. CONCLUSIONS: These results provide converging evidence for an association between ATP2B2 gene variants and autism in male subjects, spurring interest into the identification of functional variants, most likely involved in the homeostasis of Ca(2+) signaling. Additional support comes from a recent genome-wide association study by the Autism Genome Project, which highlights the same linkage disequilibrium region of the gene.
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22. Chaplin E, Gilvarry C, Tsakanikos E. {{Recreational substance use patterns and co-morbid psychopathology in adults with intellectual disability}}. {Res Dev Disabil};2011 (Nov);32(6):2981-2986.
There is very limited evidence on the patterns of recreational substance use among adults with Intellectual Disabilities (ID) who have co-morbid mental health problems. In this study we collected clinical and socio-demographic information as well as data on substance use patterns for consecutive new referrals (N=115) to specialist mental health services for adults with ID in South-East London. The data were recorded from active clinical case notes. About 15% of patients had a history of substance use, however only 8% were currently using substances. Alcohol was the most frequently used substance (80%) followed by cannabis (28%) and cocaine (12%). Overall, substance use was significantly more likely among male patients, those with a mild level of ID and those with a forensic history. Substance use was less likely among patients with autism and more likely among those with schizophrenia spectrum disorders. Logistic regression analyses revealed that those with a forensic history were about five times more likely to have current substance use problems. Male gender was the only predictor for legal substance (alcohol) use. Illicit substance use was about three times more likely among patients with schizophrenia spectrum disorders. The present results highlight the role of illicit substance use as a health risk factor for adults with ID as well as the need to increase awareness within specialist mental health services.
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23. Christ SE, Kester LE, Bodner KE, Miles JH. {{Evidence for selective inhibitory impairment in individuals with autism spectrum disorder}}. {Neuropsychology};2011 (Nov);25(6):690-701.
Objective: The social and communicative challenges faced by individuals with autism spectrum disorder (ASD) are often compounded by additional difficulties with executive function. It remains unclear, however, to what the extent individuals with ASD experienced impairment in inhibitory control. The objective of the present study was to assess the three main subtypes of executive inhibitory control within a single ASD sample thus providing new insight into the unique ASD-related pattern of sparing and impairment observed across different aspects of inhibitory control. Method: A sample of 28 children with ASD (mean age = 13.1 years) and a comparison group of 49 neurologically uncompromised children (mean age = 13.3 years) participated. A prepotent response inhibition task, a flanker visual filtering task, and a proactive interference memory task were used to evaluate prepotent response inhibition, resistance to distracter interference, and resistance to proactive interference, respectively. Results: After accounting for individual differences in noninhibition abilities (e.g., processing speed) and overall level of functioning, there was no evidence of group-related differences in inhibitory performance on the prepotent response inhibition test or proactive interference test. ASD-related impairments in inhibitory control were evident, however, on the flanker visual filtering task. Conclusions: Taken together, the present findings indicate that ASD is associated with impairments in some, but not all, aspects of inhibitory control. Individuals with ASD appear to have difficulty ignoring distracting visual information, but prepotent response inhibition and resistance to proactive interference are relatively intact. The current findings also provide support for a multitype model of inhibitory control. (PsycINFO Database Record (c) 2011 APA, all rights reserved).
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24. Ciuladaite Z, Kasnauskiene J, Cimbalistiene L, Preiksaitiene E, Patsalis PC, Kucinskas V. {{Mental retardation and autism associated with recurrent 16p11.2 microdeletion: incomplete penetrance and variable expressivity}}. {J Appl Genet};2011 (Nov);52(4):443-449.
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25. Coury D. {{Very little high-quality evidence to support most medications for children with autism spectrum disorders}}. {J Pediatr};2011 (Nov);159(5):872-873.
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26. Coury DL. {{Review: little evidence of clear benefit for most medical treatments for children with autism spectrum disorders}}. {Evid Based Ment Health};2011 (Nov);14(4):105.
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27. Dawson G, Burner K. {{Behavioral interventions in children and adolescents with autism spectrum disorder: a review of recent findings}}. {Curr Opin Pediatr};2011 (Oct 27)
PURPOSE OF REVIEW: The study provides an overview of recent studies on behavioral interventions for children and adolescents with autism spectrum disorder (ASD). RECENT FINDINGS: Recent reviews of the effectiveness of early intensive behavioral intervention (EIBI) conclude that EIBI can improve language and cognitive skills. The first randomized controlled trial (RCT) of a comprehensive early intervention for toddlers with ASD demonstrated gains in language, cognitive abilities, and adaptive behavior. Targeted, brief behavioral interventions are efficacious for improving social communication in young children with ASD. Parents can be taught to deliver behavioral interventions, which are associated with improvements in parent-child interaction; effects on child outcome, however, have been mixed. Several studies show that social skills interventions are efficacious for improving peer relationships and social competence. Behavioral interventions are also effective for reducing anxiety symptoms and aggression. Medication combined with behavioral intervention was found to be more effective for reducing aggression than medication alone. SUMMARY: Behavioral interventions are effective for improving language, cognitive abilities, adaptive behavior, and social skills, and reducing anxiety and aggression. Medication combined with behavioral intervention appears to be more effective for reducing aggressive behavior than medication alone.
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28. Demurie E, Roeyers H, Baeyens D, Sonuga-Barke E. {{Common alterations in sensitivity to type but not amount of reward in ADHD and autism spectrum disorders}}. {J Child Psychol Psychiatry};2011 (Nov);52(11):1164-1173.
Background: Children with attention deficit/hyperactivity disorder (ADHD) display abnormalities in reward processing. Most reward studies have focused on the effects of material or monetary rewards. Studies with autism spectrum disorder (ASD) have focused on social rewards. In this study we compared the effects of amount and type of reward in children with ADHD and those with ASD. Methods: Two adapted versions of the Monetary Incentive Delay Task were used to study the effects of monetary and social reward anticipation on performance in 40 typically developing (TD) children and adolescents (8-16y), 35 children and adolescents with ADHD and 31 children and adolescents with ASD. Results: Monetary and social reward improved accuracy and response time (RT) in all groups. The higher the anticipated reward, the more accurate and faster were responses. Independent of these effects, there was a differential effect of reward type. Both clinical groups, but not TD, responded faster for monetary than social rewards. Conclusions: The results, while not supporting hyposensitivity to changes in reward amount in ADHD and ASD, do suggest that both groups are generally less motivated in settings where social as opposed to monetary rewards can be earned.
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29. Depino AM, Lucchina L, Pitossi F. {{Early and adult hippocampal TGF-beta1 overexpression have opposite effects on behavior}}. {Brain Behav Immun};2011 (Nov);25(8):1582-1591.
TGF-beta1 is an anti-inflammatory cytokine that is augmented in the brain of autistic patients and that can affect brain development. In this work, we studied the effects of overexpressing TGF-beta1 in the dentate gyrus of adult or young mice on behavior. TGF-beta1 overexpression during postnatal development led to a long-term decrease in social interaction and to long-term increases in self-grooming and depression-related behaviors. Our analysis shows that these behavioral changes correlate with the long-term downregulation of TGF-beta1 and IL-6 expression in the dentate gyrus, as well as to decreases in the mRNA levels of the synaptic protein neuroligin 3 and in the number of Reelin-positive neurons in the dentate gyrus. In contrast, chronic expression of TGF-beta1 during adulthood led to transient opposite effects on these behaviors. These results show a central role of hippocampal TGF-beta1 in the programming and modulation of social interaction, repetitive behavior and depression-related behavior. Finally, our data suggest a role of hippocampal TGF-beta1 and early-life neuroinflammation in the development of the behavioral alterations observed in autism spectrum disorders.
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30. Dyck MJ, Piek JP, Patrick J. {{The validity of psychiatric diagnoses: The case of ‘specific’ developmental disorders}}. {Res Dev Disabil};2011 (Nov);32(6):2704-2713.
We tested whether developmental coordination disorder (DCD) and mixed receptive expressive language disorder (RELD) are valid diagnoses by assessing whether they are separated from each other, from other childhood disorders, and from normality by natural boundaries termed zones of rarity. Standardized measures of intelligence, language, motor skills, social cognition, and executive functioning were administered to children with DCD (n=22), RELD (n=30), autistic disorder (n=30), mental retardation (n=24), attention deficit/hyperactivity disorder (n=53) and to a representative sample of children (n=449). Discriminant function scores were used to test whether there were zones of rarity between the DCD, RELD, and other groups. DCD and RELD were reliably distinguishable only from the mental retardation group. Cluster and latent class analyses both resulted in only two clusters or classes being identified, one consisting mainly of typical children and the other of children with a disorder. Fifty percent of children in the DCD group and 20% in the RELD group were clustered with typical children. There was no evidence of zones of rarity between disorders. Rather, with the exception of mental retardation, the results imply there are no natural boundaries between disorders or between disorders and normality.
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31. Enticott PG, Rinehart NJ, Tonge BJ, Bradshaw JL, Fitzgerald PB. {{Repetitive transcranial magnetic stimulation (rTMS) improves movement-related cortical potentials in autism spectrum disorders}}. {Brain Stimul};2011 (Mar 3)
BACKGROUND: Motor impairments are common in autism spectrum disorders (ASD). Electrophysiologic studies reveal abnormalities in the preparation of movement; repetitive transcranial magnetic stimulation (rTMS) to key motor cortical sites may therefore be a useful technique for improving motor function in ASD. OBJECTIVE: To examine whether rTMS can improve electrophysiologic and behavioral indices of motor activity. METHODS: Eleven participants with ASD completed three sessions in which they were administered one of three rTMS conditions (left M1, supplementary motor area [SMA], sham) at 1 Hz for 15 minutes. Movement-related cortical potentials (MRCPs) were assessed before and after rTMS. RESULTS: rTMS to the SMA was associated with a gradient increase to the early component of MRCPs, whereas rTMS to left M1 produced a stronger gradient in the late component. CONCLUSIONS: rTMS appears to improve movement-related electrophysiologic activity in ASD, perhaps through an influence on cortical inhibitory processes.
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32. Facon B, Magis D, Belmont JM. {{Beyond matching on the mean in developmental disabilities research}}. {Res Dev Disabil};2011 (Nov);32(6):2134-2147.
The matching of groups is a traditional way to control for confounding variables in developmental disabilities research. The equivalency of means across groups is routinely checked for these variables, but not the homogeneity of their variances or the shapes of their distributions. In the present paper, it is argued that group matching can go seriously wrong unless it directly confronts the distributional concerns by the use of well-known statistical indices and very simple graphical displays of the distributions. The question of the equivalency of item response profiles is also addressed since two participants or two groups of participants can obtain the same overall score on the matching variable by passing different items. In this case, the matching cannot be considered satisfactory because of poor concordance between the molar (overall score) and molecular (item scores) levels of matching. Angoff’s Delta plot method, a statistical approach for detecting differential item functioning across small groups is described. It is promising as a simple way to prove whole test/individual item correspondence and, in addition, a useful tool for making post hoc statistical analyses at the item level on the dependent variables.
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33. Falkmer M, Stuart GW, Danielsson H, Bram S, Lonebrink M, Falkmer T. {{Visual Acuity in Adults with Asperger’s Syndrome: No Evidence for « Eagle-Eyed » Vision}}. {Biol Psychiatry};2011 (Nov 1);70(9):812-816.
BACKGROUND: Autism spectrum conditions (ASC) are defined by criteria comprising impairments in social interaction and communication. Altered visual perception is one possible and often discussed cause of difficulties in social interaction and social communication. Recently, Ashwin et al. suggested that enhanced ability in local visual processing in ASC was due to superior visual acuity, but that study has been the subject of methodological criticism, placing the findings in doubt. METHODS: The present study investigated visual acuity thresholds in 24 adults with Asperger’s syndrome and compared their results with 25 control subjects with the 2 Meter 2000 Series Revised ETDRS Chart. RESULTS: The distribution of visual acuities within the two groups was highly similar, and none of the participants had superior visual acuity. CONCLUSIONS: Superior visual acuity in individuals with Asperger’s syndrome could not be established, suggesting that differences in visual perception in ASC are not explained by this factor. A continued search for explanations of superior ability in local visual processing in persons with ASC is therefore warranted.
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34. Farzin F, Scaggs F, Hervey C, Berry-Kravis E, Hessl D. {{Reliability of eye tracking and pupillometry measures in individuals with fragile x syndrome}}. {J Autism Dev Disord};2011 (Nov);41(11):1515-1522.
Recent insight into the underlying molecular and cellular mechanisms of fragile X syndrome (FXS) has led to the proposal and development of new pharmaceutical treatment strategies, and the initiation of clinical trials aimed at correcting core symptoms of the developmental disorder. Consequently, there is an urgent and critical need for outcome measures that are valid for quantifying specific symptoms of FXS and that are consistent across time. We used eye tracking to evaluate test-retest reliability of gaze and pupillometry measures in individuals with FXS and we demonstrate that these measures are viable options for assessing treatment-specific outcomes related to a core behavioral feature of the disorder.
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35. Fernell E, Hedvall A, Westerlund J, Hoglund Carlsson L, Eriksson M, Barnevik Olsson M, Holm A, Norrelgen F, Kjellmer L, Gillberg C. {{Early intervention in 208 Swedish preschoolers with autism spectrum disorder. A prospective naturalistic study}}. {Res Dev Disabil};2011 (Nov);32(6):2092-2101.
Early intervention has been reported to improve outcome in children with autism spectrum disorders (ASDs). Several studies in the field have been randomized controlled trials (RCTs). The aim of this study was to assess ASD outcome in a large naturalistic study. Two hundred and eight children, aged 20-54 months, with a clinical diagnosis of ASD were given intervention and monitored prospectively in a naturalistic fashion over a period of 2 years. The toddlers were considered representative of all but the most severely multiple disabled preschool children with ASD in Stockholm county. They fell into three cognitive subgroups: one with learning disability, one with developmental delay, and one with normal intellectual functioning. Data on intervention type and intensity were gathered prospectively in a systematic fashion. Intervention was classified into intensive applied behaviour analysis (ABA) and non-intensive, targeted interventions, also based on ABA principles. Children were comprehensively assessed by a research team before the onset of intervention, and then, again, 2 years later. Change in Vineland adaptive behaviour scales composite scores from intake (T1) to leaving the study (T2) was set as the primary outcome variable. The research team remained blind to the type and intensity of interventions provided. One hundred and ninety-eight (95%) of the original samples stayed in the study throughout the whole 2-year period and 192 children had a complete Vineland composite score results both at T1 and T2. Vineland composite scores increased over the 2-year period. This increase was accounted for by the subgroup with normal cognitive functioning. There was no significant difference between the intensive and non-intensive groups. Individual variation was considerable, but no child in the study was « problem-free » at follow-up. Our data do not support that children with ASD generally benefit more from the most intensive ABA intervention programs than from less intensive interventions or targeted interventions based on ABA.
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36. Freitag C, Herpertz-Dahlmann B, Dose M, Luken M. {{[Statement on a letter by <<Pyramid Educational Consultants Germany UG>> of May 2010]}}. {Z Kinder Jugendpsychiatr Psychother};2011 (Nov);39(6):417-419.
In the present statement, a letter by the company <<Pyramid Educational Consultants of Germany UG>> on training and therapeutic aspects of PECS for children with autism is critically reflected.
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37. Gallant NM, Baldwin E, Salamon N, Dipple KM, Quintero-Rivera F. {{Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion}}. {Am J Med Genet A};2011 (Nov);155(11):2871-2878.
The pontocerebellar hypoplasias (PCHs) are a group of clinically variable disorders characterized by abnormally small cerebellum and brainstem, generally inherited in an autosomal recessive pattern. While PCHs have been grouped into six subtypes, clinical diagnosis is equivocal until a genetic diagnosis is established. We report a patient with PCH, intrauterine growth restriction, ventricular septal defect, rib anomalies, midgut malrotation, and facial dysmorphic features. Using SNP analysis, we identified three de novo deletions of: 1.055 Mb at 6q24.3q25.1 (148174730-149229583); 169 kb at 16p13.2 (6565411-6733934); and 2.530 Mb at 19p13.11p13.12 (13857587-16387798), which were confirmed by FISH. 19p13 deletions are rare aberrations. Of patients previously described with overlapping 19p13.12 deletions and multiple anomalies, only one presented with PCH. Deleted in both that patient and the patient reported here, is DDX39, a DEAD-box RNA helicase. DDX39 is part of the homeostatic machinery that regulates the switch of cellular proliferation and differentiation. It is highly expressed in the developing central nervous system and optic cup of Xenopus laevis. The brain abnormalities in the patient reported here were more severe than the previously reported patient, which may be due to additional deletions or undetected point mutations in the nondeleted allele. Notably, the patient reported here also has a partial deletion of RBFOX1 (A2BP1), which lies within the autism susceptibility locus on 16p13.2. Our findings suggest chromosomal microarray analysis may be useful in determining etiology of syndromic PCH. (c) 2011 Wiley Periodicals, Inc.
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38. Ghanizadeh A. {{c-Kit+ Cells Transplantation as a New Treatment for Autism, a Novel Hypothesis with Important Research and Clinical Implication}}. {J Autism Dev Disord};2011 (Nov);41(11):1591-1592.
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39. Ghuman JK, Leone SL, Lecavalier L, Landa RJ. {{The screen for social interaction (SSI): A screening measure for autism spectrum disorders in preschoolers}}. {Res Dev Disabil};2011 (Nov);32(6):2519-2529.
We report on the preliminary validity and utility of the Ghuman-Folstein Screen for Social Interaction (SSI), a measure of social interaction that can serve to screen for autism spectrum disorders (ASDs) in clinical samples of young high-risk children. Caregivers of 350 children (176 younger participants, ages 24-42 months, mean age=34.1 months; and 174 older participants, ages 43 to 61 months, mean age=52.4 months) with ASDs, non-ASD developmental and/or psychiatric disorders, or without developmental concerns completed the SSI. A series of analyses resulted in shortened versions of the SSI: a 26-item SSI-Younger (SSI-Y) and a 21-item SSI-Older (SSI-O) version. The SSI-Y and SSI-O showed moderate convergence with ASD diagnostic measures and significantly differentiated ASD and non-ASD clinical groups. Sensitivity and specificity values for discriminating ASD and non-ASD clinical participants were 0.87 and 0.71, respectively for the SSI-Y and 0.81 and 0.70, respectively for the SSI-O. Scoring recommendations were made based on the ROC results.
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40. Gibson J, Hussain J, Holsgrove S, Adams C, Green J. {{Quantifying peer interactions for research and clinical use: The Manchester Inventory for Playground Observation}}. {Res Dev Disabil};2011 (Nov);32(6):2458-2466.
Direct observation of peer relating is potentially a sensitive and ecologically valid measure of child social functioning, but there has been a lack of standardised methods. The Manchester Inventory for Playground Observation (MIPO) was developed as a practical yet rigorous assessment of this kind for 5-11 year olds. We report on the initial reliability and validity of the MIPO and its ability to distinguish social impairments within different psychopathologies. We observed 144 clinically referred children aged 5;00-11;11 (mean 8.8) years with Externalising (n=44), Internalising (n=19), Autism Spectrum Disorders (n=39) or Specific Language Impairment (n=42), and 44 class-controls, in naturalistic playground interaction. Observers, blind to clinical diagnosis, completed the MIPO and the teacher checklist from the Social Skills Rating System (SSRS). MIPO items showed high internal consistency (alpha=.924; all ‘alpha if item deleted’ values>.91), inter-observer reliability (mean kappa(w)=.77) and test-retest stability (over 2 weeks; mean kappa(w)=.58). MIPO totals showed convergence with SSRS (n=68, r(s)=.78, p<.01) and excellent discrimination between case and control (sensitivity=0.75 and specificity=0.88, AUC=.897). Externalising, Autistic Spectrum and Language Impaired groups showed distinct profiles of MIPO impairment consistent with theory:Internalising disorders less so. 65.3% of clinical cases were classified accurately for primary diagnosis. The MIPO shows reliability and validity as a measure of children’s social functioning relevant in developmental research and as a clinical tool to aid differential diagnosis and intervention planning.
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41. Guenole F, Baleyte JM. {{Meta-analysing the effectiveness of melatonin for sleep-disturbed individuals with autism spectrum conditions: should Rett syndrome be included?}}. {Dev Med Child Neurol};2011 (Nov);53(11):1063.
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42. Hagerman RJ. {{The Fragile X-associated Disorders: Time to Order Fragile X DNA Testing}}. {Biol Psychiatry};2011 (Nov 1);70(9):802-803.
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43. Hattier MA, Matson JL, Sipes M, Turygin N. {{Communication deficits in infants and toddlers with developmental disabilities}}. {Res Dev Disabil};2011 (Nov);32(6):2108-2113.
Research that focuses on detecting and assessing the presence of communication impairments in children with developmental disabilities exists. However, more research is needed which compares these deficits across individuals with various developmental disabilities. This information could inform the assessment process and treatment programs. Therefore, the purpose of the current study was to examine communication deficits in toddlers who were diagnosed with Down syndrome, Cerebral Palsy (CP), had a history of seizures or a seizure disorder, and who were born premature. A total of 140 toddlers 17-35 months of age met inclusion criteria for the study. Those diagnosed with CP evinced significantly fewer communication impairments on the Baby and Infant Screen for aUtIsm Traits-Part 1 (BISCUIT-Part 1) than children with Down syndrome and children with a history of seizures or seizure disorder. No significant differences were found on the communication subscale for the comparison of those with CP and those born prematurely. Children diagnosed with CP had fewer endorsements, indicating less impairment, on all six items of the Communication subscale of the BISCUIT-Part 1 when compared to the three other diagnostic groups. Implications of these results are discussed for children with differing handicaps.
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44. Hattier MA, Matson JL, Tureck K, Horovitz M. {{The effects of gender and age on repetitive and/or restricted behaviors and interests in adults with autism spectrum disorders and intellectual disability}}. {Res Dev Disabil};2011 (Nov);32(6):2346-2351.
Frequency of repetitive and/or restricted behaviors and interests (RRBIs) was assessed in 140 adults with autism spectrum disorders (ASDs) and severe or profound intellectual disability (ID). The associations of gender and age range were analyzed with RRBI frequency which was obtained using the Stereotypies subscale of the Diagnostic Assessment for the Severely Handicapped-II (DASH-II). A significant main effect of gender was found. Male participants had higher frequency of RRBIs than females regardless of age range. There was not a significant main effect of age range or a significant interaction between gender and age range. Results and implications are discussed.
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45. Hessl D, Wang JM, Schneider A, Koldewyn K, Le L, Iwahashi C, Cheung K, Tassone F, Hagerman PJ, Rivera SM. {{Decreased fragile x mental retardation protein expression underlies amygdala dysfunction in carriers of the fragile x premutation}}. {Biol Psychiatry};2011 (Nov 1);70(9):859-865.
BACKGROUND: The fragile X premutation provides a unique opportunity for the study of genetic and brain mechanisms of behavior and cognition in the context of neurodevelopment and neurodegeneration. Although the neurodegenerative phenotype, fragile X-associated tremor/ataxia syndrome, is well described, evidence of a causal link between the premutation and psychiatric disorder earlier in life, clear delineation of a behavioral/cognitive phenotype, and characterization of the physiological basis of observed symptoms have been elusive. METHODS: We completed functional magnetic resonance imaging targeting the amygdala with an emotion-matching task and concurrent infrared eye tracking, FMR1 molecular genetic testing, and neuropsychological assessment in 23 men with the premutation (mean age = 32.9 years) and 25 male control subjects (mean age = 30.1 years). RESULTS: Premutation carriers had significantly smaller left and right amygdala volume and reduced right amygdala activation during the task relative to control subjects. Although both elevated FMR1 messenger RNA and reduced fragile X mental retardation protein (FMRP) were associated with the reduced activation, multiple regression analysis suggested that reduced FMRP is the primary factor. Premutation carriers also had higher ratings of autism spectrum symptoms than control subjects, which were associated with the reduced amygdala response. CONCLUSIONS: Although prior studies have emphasized a toxic gain-of-function effect of elevated messenger RNA associated with the premutation, the current results point to the role of reduced FMRP in alterations of brain activity and behavior.
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46. Holtmann M, Steiner S, Hohmann S, Poustka L, Banaschewski T, Bolte S. {{Neurofeedback in autism spectrum disorders}}. {Dev Med Child Neurol};2011 (Nov);53(11):986-993.
Aim To review current studies on the effectiveness of neurofeedback as a method of treatment of the core symptoms of autism spectrum disorders (ASD). Method Studies were selected based on searches in PubMed, Ovid MEDLINE, EMBASE, ERIC, and CINAHL using combinations of the following keywords: ‘Neurofeedback’ OR ‘EEG Biofeedback’ OR ‘Neurotherapy’ OR ‘Mu-Rhythm’ OR ‘SMR’ AND ‘Autism’ OR ‘Autism Spectrum Disorder’ OR ‘Pervasive Developmental Disorder’. Results The existing evidence does not s
