1. {{Special report: early intensive behavioral intervention based on applied behavior analysis among children with autism spectrum disorders}}. {Technol Eval Cent Asses Program Exec Summ};2009 (Feb);23(9):1-5.
2. Arnold JE, Bennetto L, Diehl JJ. {{Reference production in young speakers with and without autism: effects of discourse status and processing constraints}}. {Cognition};2009 (Feb);110(2):131-146.
We examine the referential choices (pronouns/zeros vs. names/descriptions) made during a narrative by high-functioning children and adolescents with autism and a well-matched typically developing control group. The process of choosing appropriate referring expressions has been proposed to depend on two areas of cognitive functioning: (a) judging the attention and knowledge of one’s interlocutor, and (b) the use of memory and attention mechanisms to represent the discourse situation. We predicted possible group differences, since autism is often associated with deficits in (a) mentalizing and (b) memory and attention, as well as a more general tendency to have difficulty with the pragmatic aspects of language use. Results revealed that some of the participants with autism were significantly less likely to produce pronouns or zeros in some discourse contexts. However, the difference was only one of degree. Overall, all participants in our analysis exhibited fine-grained sensitivity to the discourse context. Furthermore, referential choices for all participants were modulated by factors related to the cognitive effort of language production.
3. Auyeung B, Baron-Cohen S, Ashwin E, Knickmeyer R, Taylor K, Hackett G. {{Fetal testosterone and autistic traits}}. {Br J Psychol};2009 (Feb);100(Pt 1):1-22.
Studies of amniotic testosterone in humans suggest that fetal testosterone (fT) is related to specific (but not all) sexually dimorphic aspects of cognition and behaviour. It has also been suggested that autism may be an extreme manifestation of some male-typical traits, both in terms of cognition and neuroanatomy. In this paper, we examine the possibility of a link between autistic traits and fT levels measured in amniotic fluid during routine amniocentesis. Two instruments measuring number of autistic traits (the Childhood Autism Spectrum Test (CAST) and the Child Autism Spectrum Quotient (AQ-Child)) were completed by these women about their children (N=235), ages 6-10 years. Intelligence Quotient (IQ) was measured in a subset of these children (N=74). fT levels were positively associated with higher scores on the CAST and AQ-Child. This relationship was seen within sex as well as when the sexes were combined, suggesting this is an effect of fT rather than of sex per se. No relationships were found between overall IQ and the predictor variables, or between IQ and CAST or AQ-Child. These findings are consistent with the hypothesis that prenatal androgen exposure is related to children exhibiting more autistic traits. These results need to be followed up in a much larger sample to test if clinical cases of ASC have elevated fT.
4. Barbeau EB, Mendrek A, Mottron L. {{Are autistic traits autistic?}}. {Br J Psychol};2009 (Feb);100(Pt 1):23-28.
According to the extreme male brain theory of autism (Baron-Cohen, 2002), autistic traits would be extreme manifestations of typical male behaviours. The Auyeung et al. (2009) paper establishes a link between autistic traits and higher fetal testosterone (fT) levels in typically developing children. We argue that the construct behind this relationship needs further investigation. First, the link between fT levels and sexually dimorphic traits, that are for example, associated with empathizing and systemizing, is controversial. Likewise, describing autistic behaviours as being extreme male-like is debatable. The cerebral hemisphere laterality pattern of individuals with autism also seems to differ from the pattern typically observed in males. Moreover, the parallel that should exist, according to the fT theory, between individuals with autism and individuals with congenital adrenal hyperplasia (CAH), because of their high fT levels, is unclear. The theory implying fT levels in autism fails to account for a big part of autism, and the link between fT and normal ‘autistic traits’ hardly demonstrates the causal link between fT and autism.
5. Baron-Cohen S, Auyeung B, Ashwin E, Knickmeyer R. {{Fetal testosterone and autistic traits: a response to three fascinating commentaries}}. {Br J Psychol};2009 (Feb);100(Pt 1):39-47.
This article is an author response to three previous commentaries on ‘Fetal testosterone and autistic traits’ (Auyeung et al., 2009).
6. Barthelemy C. {{[Autism: current issues, history and future perspectives]}}. {Bull Acad Natl Med};2009 (Feb);193(2):271-282; discussion 282-275.L’autisme: actualite, evolution des concepts et perspectives.
Autism affects one hundred thousand individuals in France This syndrome was first described as the earliest form of schizophrenic psychosis. It is now considered to be a biologically based pervasive neurodevelopmental, disorder affecting, from the first days of life, social communication and adjustment to the environment. Advances in the understanding of its clinical neurofunctional and genetic aspects have progressively modified conceptions and practices for diagnosis, exploration and therapeutics. This live-long complex handicap presents major challenges.
7. Bourgeron T, Leboyer M, Delorme R. {{[Autism: more evidence of a genetic cause]}}. {Bull Acad Natl Med};2009 (Feb);193(2):299-304; discussion 304-295.Autisme, la piste genetique se confirme.
Autism spectrum disorders (ASD) affect at least 1/200 individuals. They are characterized by impaired communication skills and social interaction, as well as restricted, repetitive and stereotyped behaviours. Recent studies point to a role of a synaptic pathway, including synaptic cell adhesion molecules (neuroligins and neurexins) and scaffolding proteins (SHANK3). Abnormal synapse formation/maintenance and an imbalance between GABAergic and glutamatergic synaptic currents seem to be involved in the etiology of ASD.
8. Brunelle F, Boddaert N, Zilbovicius M. {{[Autism and brain imaging]}}. {Bull Acad Natl Med};2009 (Feb);193(2):287-297; discussion 297-288.Autisme et imagerie cerebrale.
Our knowledge of brain defects in autistic patients has considerably improved since the advent of MRI and PET These imaging methods provide a precise anatomical picture of the brain and, above all, permit statistical comparisons. Visual inspection of brain MR images obtained in 77 children with autism revealed anomalies in the temporal lobe. Statistical analysis showed a loss of grey matter in the superior temporal sulcus of 21 children with autism. PET functional studies show reduced blood flow in the same region. No activation was seen in the superior temporal sulcus during presentation of complex sounds, contrary to normal children. All these studies are consistent with structural and functional anomalies of the superior temporal sulcus, a brain region involved in the treatment of the complex sensory inputs necessary for normal social interactions. These anomalies may at least partly explain the behavioural difficulties of children with autism.
9. Burbach JP, van der Zwaag B. {{Contact in the genetics of autism and schizophrenia}}. {Trends Neurosci};2009 (Feb);32(2):69-72.
Although autism and schizophrenia are considered to be distinct neuropsychiatric developmental disorders, recent studies indicate that they share genetic factors. The same chromosomal rearrangements and several single genes have emerged as genetic risks in both disorders. One such gene is contactin-associated protein-2 (CNTNAP2). These findings raise the possibility that these neuropsychiatric disorders share pathogenic mechanisms and that similar defects in biological pathways of brain development might underlie the phenotypic spectrum of these disorders.
10. Burd L, Li Q, Kerbeshian J, Klug MG, Freeman RD. {{Tourette syndrome and comorbid pervasive developmental disorders}}. {J Child Neurol};2009 (Feb);24(2):170-175.
We examined the rates of comorbid pervasive developmental disorders in participants with Tourette syndrome. We used 7288 participants from the Tourette Syndrome International Database Consortium Registry. We found 334 (4.6%; 1 of every 22 participants) with Tourette syndrome had a comorbid pervasive developmental disorder. In participants with Tourette syndrome and comorbid pervasive developmental disorders, 98.8% had one or more comorbidities (pervasive developmental disorder was not counted) compared to 13.2% in the group of participants with Tourette syndrome only. Variables from logistic modeling that were significant predictors of Tourette syndrome and pervasive developmental disorders were: male gender; no family history of tics/Tourette syndrome; and an increased number of comorbidities (P < .001). We found rates of comorbid Tourette syndrome and pervasive developmental disorders to be increased by 13 times. Identification of differences between subgroups of patients with Tourette syndrome may increase understanding of syndromal susceptibility, severity, and outcome.
11. Constantino JN. {{How continua converge in nature: cognition, social competence, and autistic syndromes}}. {J Am Acad Child Adolesc Psychiatry};2009 (Feb);48(2):97-98.
12. Corbett BA, Schupp CW, Levine S, Mendoza S. {{Comparing cortisol, stress, and sensory sensitivity in children with autism}}. {Autism Res};2009 (Feb);2(1):39-49.
Previously we reported that children with autism show significant variability in cortisol. The current investigation was designed to extend these findings by exploring plausible relationships between cortisol and psychological measures of stress and sensory functioning. Salivary cortisol values for diurnal rhythms and response to stress in children with and without autism were compared to parent-report measures of child stress, the Stress Survey Schedule (SSS), sensory functioning, Short Sensory Profile (SSP), and Parenting Stress Index. In autism, a negative relationship between morning cortisol and the SSS revealed that higher observed symptoms of stress were related to lower cortisol. Lower cortisol is seen in conditions of chronic stress and in social situations characterized by unstable social relationships. Sensory sensitivity painted a more complicated picture, in that some aspects of SSP were associated with higher while others were associated with lower cortisol. We propose that increased sensory sensitivity may enhance the autistic child’s susceptibility to the influence of zeitgeibers reflected in variable cortisol secretion. Evening cortisol was positively associated with SSS such that the higher the level of evening cortisol, the higher the child’s parent-reported daily stress, especially to changes, such as in daily routine. Regarding the response to stress, the psychological and parent variables did not differentiate the groups; rather, discrete subgroups of cortisol responders and nonresponders were revealed in both the autism and neurotypical children. The results support a complex interplay between physiological and behavioral stress and sensory sensitivity in autism and plausible developmental factors influencing stress reactivity across the groups.
13. Derwinska K, Bernaciak J, Wisniowiecka-Kowalnik B, Obersztyn E, Bocian E, Stankiewicz P. {{Autistic features with speech delay in a girl with an approximately 1.5-Mb deletion in 6q16.1, including GPR63 and FUT9}}. {Clin Genet};2009 (Feb);75(2):199-202.
14. Esposito G, Venuti P, Maestro S, Muratori F. {{An exploration of symmetry in early autism spectrum disorders: analysis of lying}}. {Brain Dev};2009 (Feb);31(2):131-138.
BACKGROUND: Early identification of children with autism spectrum disorders (ASD) is recognized as a critical aspect of their medical management and treatment. Movement disorders are considered one of the first signs which probably precede social or linguistic abnormalities. Objectives: to verify, through observational methods, the possibility of distinguishing infants with ASD from infants with typical development or with mental retardation by movement. METHODS: The Eshkol-Wachman movement analysis system, which analyses static symmetry (SS) and dynamic symmetry (DS) during lying, was applied to retrospective home videos regarding the first 5 months of life of children with ASD (n=18), typical development (n=18), or developmental delay (n=12). RESULTS: Significant differences between ASD and the two control groups were found for both SS (p<.001) and DS (p<.01). Within ASD two groups of infants could be differentiated on the basis of the higher (HLS) or the lower (LLS) levels of symmetry. Early onset ASD are more likely to belong to the LLS group. CONCLUSION: We suggest that motor functioning may define specific subgroups of early ASD which are related to different pathways to the syndrome. LLS could be used as an early indicator of potential autism since the first months of life.
15. Fatemi SH, Reutiman TJ, Folsom TD, Thuras PD. {{GABA(A) receptor downregulation in brains of subjects with autism}}. {J Autism Dev Disord};2009 (Feb);39(2):223-230.
Gamma-aminobutyric acid A (GABA(A)) receptors are ligand-gated ion channels responsible for mediation of fast inhibitory action of GABA in the brain. Preliminary reports have demonstrated altered expression of GABA receptors in the brains of subjects with autism suggesting GABA/glutamate system dysregulation. We investigated the expression of four GABA(A) receptor subunits and observed significant reductions in GABRA1, GABRA2, GABRA3, and GABRB3 in parietal cortex (Brodmann’s Area 40 (BA40)), while GABRA1 and GABRB3 were significantly altered in cerebellum, and GABRA1 was significantly altered in superior frontal cortex (BA9). The presence of seizure disorder did not have a significant impact on GABA(A) receptor subunit expression in the three brain areas. Our results demonstrate that GABA(A) receptors are reduced in three brain regions that have previously been implicated in the pathogenesis of autism, suggesting widespread GABAergic dysfunction in the brains of subjects with autism.
16. Fendri-Kriaa N, Abdelkafi Z, Rebeh IB, Kamoun F, Triki C, Fakhfakh F. {{A novel MECP2 gene mutation in a Tunisian patient with Rett syndrome}}. {Genet Test Mol Biomarkers};2009 (Feb);13(1):109-113.
Patients with classical Rett show an apparently normal psychomotor development during the first 6-18 months of life. Thereafter, they enter a short period of developmental stagnation followed by a rapid regression in language and motor development. Purposeful hand use is often lost and replaced by repetitive, stereotypic movements. Rett syndrome (RTT) is an X-linked dominant disorder caused frequently by mutations in the methyl-CpG-binding protein 2 gene (MECP2). The aim of this study was to search for mutations in MECP2 gene in two Tunisian patients affected with RTT. The results of mutation analysis revealed mutations in exon 4 of MECP2 gene in the two patients. In one patient we identified a new mutation consisting of a deletion of four bases (c.810-813delAAAG), which led to a frame shift and generated a premature stop codon (p.Lys271Arg fs X15) in transcriptional repression domain-nuclear localization signal (TRD-NLS) domain of MeCP2 protein. With regard to the second patient, a previously described transition (c.916C>T) that changed an arginine to a cysteine residue (p.R306C) in TRD domain of MeCP2 protein was revealed. In conclusion, a new and a known de novo mutation in MECP2 gene were revealed in two Tunisian patients affected with RTT.
17. Fischer M, Reuter J, Gerich FJ, Hildebrandt B, Hagele S, Katschinski D, Muller M. {{Enhanced hypoxia susceptibility in hippocampal slices from a mouse model of rett syndrome}}. {J Neurophysiol};2009 (Feb);101(2):1016-1032.
Rett syndrome is a neurodevelopmental disorder caused by mutations in the X-chromosomal MECP2 gene encoding for the transcriptional regulator methyl CpG binding protein 2 (MeCP2). Rett patients suffer from episodic respiratory irregularities and reduced arterial oxygen levels. To elucidate whether such intermittent hypoxic episodes induce adaptation/preconditioning of the hypoxia-vulnerable hippocampal network, we analyzed its responses to severe hypoxia in adult Rett mice. The occurrence of hypoxia-induced spreading depression (HSD)–an experimental model for ischemic stroke–was hastened in Mecp2-/y males. The extracellular K+ rise during HSD was attenuated in Mecp2-/y males and the input resistance of CA1 pyramidal neurons decreased less before HSD onset. CA1 pyramidal neurons were smaller and more densely packed, but the cell swelling during HSD was unaffected. The intrinsic optical signal and the propagation of HSD were similar among the different genotypes. Basal synaptic function was intact, but Mecp2-/y males showed reduced paired-pulse facilitation and higher field potential/fiber volley ratios, but no increased seizure susceptibility. Synaptic failure during hypoxia was complete in all genotypes and the final degree of posthypoxic synaptic recovery indistinguishable. Cellular ATP content was normal in Mecp2-/y males, but their hematocrit was increased as was HIF-1alpha expression throughout the brain. This is the first study showing that in Rett syndrome, the susceptibility of telencephalic neuronal networks to hypoxia is increased; the underlying molecular mechanisms apparently involve disturbed K+ channel function. Such an increase in hypoxia susceptibility may potentially contribute to the vulnerability of male Rett patients who are either not viable or severely disabled.
18. Frye RE, Beauchamp MS. {{Receptive language organization in high-functioning autism}}. {J Child Neurol};2009 (Feb);24(2):231-236.
One of the core defining components of autism is impairment in communication, typically manifested as a delay in speech development. To date, neuroimaging studies have shed limited light on the mechanisms behind delay in speech development in autism. We performed magnetoencephalographic-based auditory language mapping in 2 cases of high-functioning autism. Overall, 2 distinct characteristics were found, such as the use of atypical language pathways and cortical hyperexcitability. These neurophysiological findings parallel those reported in 2 other developmental disorders, developmental dyslexia and Rett syndrome. We discuss common mechanisms that may account for cognitive delays across these developmental disorders.
19. Galiatsatos P, Gologan A, Lamoureux E. {{Autistic enterocolitis: fact or fiction?}}. {Can J Gastroenterol};2009 (Feb);23(2):95-98.
Autism spectrum disorder refers to syndromes of varying severity, typified by impaired social interactions, communicative delays and restricted, repetitive behaviours and interests. The prevalence of autism spectrum disorders has been on the rise, while the etiology remains unclear and most likely multifactorial. There have been several reports of a link between autism and chronic gastrointestinal symptoms. Endoscopy trials have demonstrated a higher prevalence of nonspecific colitis, lymphoid hyperplasia and focally enhanced gastritis compared with controls. Postulated mechanisms include aberrant immune responses to some dietary proteins, abnormal intestinal permeability and unfavourable gut microflora. Two autism spectrum disorder patients with chronic intestinal symptoms and abnormal endoscopic findings are described, followed by a review of this controversial topic.
20. Gauthier I, Klaiman C, Schultz RT. {{Face composite effects reveal abnormal face processing in Autism spectrum disorders}}. {Vision Res};2009 (Feb);49(4):470-478.
Although it has been suggested that individuals with an Autism spectrum disorder (ASD) process faces less holistically than typically developing controls, there are few direct investigations of this hypothesis. This question was addressed before using the composite paradigm (Teunisse, J. P., & de Gelder, B. (2003). Face processing in adolescents with autistic disorder: The inversion and composite effects. Brain Cognition, 52(3), 285-294.). The results had revealed that adolescents with ASDs were less sensitive than controls to the misalignment of face parts and it was concluded their face processing was less holistic. However, because of shortcomings of the design, it was not possible to distinguish whether individuals with Autism processed both aligned and misaligned composites in a part-based fashion, or both in a holistic fashion. We compared adolescents with ASDs to controls matched on sex, age and IQ on a more complete version of the composite paradigm. The results indicate that individuals with ASDs, like controls, experience interference from facial features that they are told to ignore. However, while such interference is released for controls if parts of face composites are misaligned, individuals with ASDs show comparable interference from irrelevant parts regardless of alignment. Two different interpretations are discussed, both compatible with the idea that perceptual and or attentional abnormalities in ASDs result in a diminished level of expertise for faces.
21. Geier DA, Kern JK, Garver CR, Adams JB, Audhya T, Geier MR. {{A prospective study of transsulfuration biomarkers in autistic disorders}}. {Neurochem Res};2009 (Feb);34(2):386-393.
The goal of this study was to evaluate transsulfuration metabolites in participants diagnosed with autism spectrum disorders (ASDs). Transsulfuration metabolites, including: plasma reduced glutathione (GSH), plasma oxidized glutathione (GSSG), plasma cysteine, plasma taurine, plasma sulfate, and plasma free sulfate among participants diagnosed with ASDs (n = 38) in comparison to age-matched neurotypical controls were prospectively evaluated. Testing was conducted using Vitamin Diagnostics, Inc. (CLIA-approved). Participants diagnosed with ASDs had significantly (P < 0.001) decreased plasma reduced GSH, plasma cysteine, plasma taurine, plasma sulfate, and plasma free sulfate relative to controls. By contrast, participants diagnosed with ASDs had significantly (P < 0.001) increased plasma GSSG relative to controls. The present observations are compatible with increased oxidative stress and a decreased detoxification capacity, particularly of mercury, in patients diagnosed with ASDs. Patients diagnosed with ASDs should be routinely tested to evaluate transsulfuration metabolites, and potential treatment protocols should be evaluated to potentially correct the transsulfuration abnormalities observed.
22. Geurts HM, Corbett B, Solomon M. {{The paradox of cognitive flexibility in autism}}. {Trends Cogn Sci};2009 (Feb);13(2):74-82.
We present an overview of current literature addressing cognitive flexibility in autism spectrum disorders. Based on recent studies at multiple sites, using diverse methods and participants of different autism subtypes, ages and cognitive levels, no consistent evidence for cognitive flexibility deficits was found. Researchers and clinicians assume that inflexible everyday behaviors in autism are directly related to cognitive flexibility deficits as assessed by clinical and experimental measures. However, there is a large gap between the day-to-day behavioral flexibility and that measured with these cognitive flexibility tasks. To advance the field, experimental measures must evolve to reflect mechanistic models of flexibility deficits. Moreover, ecologically valid measures are required to be able to resolve the paradox between cognitive and behavioral inflexibility.
23. Golse B, Robel L. {{[Towards an integrated approach to infantile autism: the superior temporal lobe between neurosciences and psychoanalysis]}}. {Bull Acad Natl Med};2009 (Feb);193(2):307-313.Pour une approche integrative de i’autisme infantile: le lobe temporal superieur entre neurosciences et psychanalyse.
The superior temporal lobe is currently at the focus of intensive research in infantile autism, a psychopathologic disorder apparently representing the severest failure of access to intersubjectivity, i.e. the ability to accept that others exist independently of oneself. Access to intersubjectivity seems to involve the superior temporal lobe, which is the seat of several relevant functions such as face and voice recognition and perception of others’ movements, and coordinates the different sensory inputs that identify an object as being « external ». The psychoanalytic approach to infantile autism and recent cognitive data are now converging, and intersubjectivity is considered to result from « mantling » or comodalization of sensory inputs from external objects. Recent brain neuroimaging studies point to anatomic and functional abnormalities of the superior temporal lobe in autistic children. Dialogue is therefore possible between these different disciplines, opening the way to an integrated view of infantile autism in which the superior temporal lobe holds a central place–not necessarily as a primary cause of autism but rather as an intermediary or a reflection of autistic functioning
24. Gunji A, Inagaki M, Inoue Y, Takeshima Y, Kaga M. {{Event-related potentials of self-face recognition in children with pervasive developmental disorders}}. {Brain Dev};2009 (Feb);31(2):139-147.
Patients with pervasive developmental disorders (PDD) often have difficulty reading facial expressions and deciphering their implied meaning. We focused on semantic encoding related to face cognition to investigate event-related potentials (ERPs) to the subject’s own face and familiar faces in children with and without PDD. Eight children with PDD (seven boys and one girl; aged 10.8+/-2.9 years; one left-handed) and nine age-matched typically developing children (four boys and five girls; aged 11.3+/-2.3 years; one left-handed) participated in this study. The stimuli consisted of three face images (self, familiar, and unfamiliar faces), one scrambled face image, and one object image (e.g., cup) with gray scale. We confirmed three major components: N170 and early posterior negativity (EPN) in the occipito-temporal regions (T5 and T6) and P300 in the parietal region (Pz). An enhanced N170 was observed as a face-specific response in all subjects. However, semantic encoding of each face might be unrelated to N170 because the amplitude and latency were not significantly different among the face conditions. On the other hand, an additional component after N170, EPN which was calculated in each subtracted waveform (self vs. familiar and familiar vs. unfamiliar), indicated self-awareness and familiarity with respect to face cognition in the control adults and children. Furthermore, the P300 amplitude in the control adults was significantly greater in the self-face condition than in the familiar-face condition. However, no significant differences in the EPN and P300 components were observed among the self-, familiar-, and unfamiliar-face conditions in the PDD children. The results suggest a deficit of semantic encoding of faces in children with PDD, which may be implicated in their delay in social communication.
25. Gupta SK, Ratnam BV. {{Cerebral perfusion abnormalities in children with autism and mental retardation: a segmental quantitative SPECT study}}. {Indian Pediatr};2009 (Feb);46(2):161-164.
Autism is a severe developmental disorder, the biological mechanisms of which remain unknown. Hence we conducted this study to assess the cerebral perfusion in 10 children with autism and mental retardation. Five age matched normal children served as controls. These cases were evaluated by single photon emission computed tomography (SPECT) using Tc-99m HMPAO, followed by segmental quantitative evaluation. Generalized hypoperfusion of brain was observed in all 10 cases as compared to controls. Frontal and prefrontal regions revealed maximum hypoperfusion. Subcortical areas also indicated hypoperfusion. We conclude that children with autism have varying levels of perfusion abnormities in brain causing neurophysiologic dysfunction that presents with cognitive and neuropsychological defects.
26. Hallahan B, Daly EM, McAlonan G, Loth E, Toal F, O’Brien F, Robertson D, Hales S, Murphy C, Murphy KC, Murphy DG. {{Brain morphometry volume in autistic spectrum disorder: a magnetic resonance imaging study of adults}}. {Psychol Med};2009 (Feb);39(2):337-346.
BACKGROUND: Several prior reports have found that some young children with autism spectrum disorder [ASD; including autism and Asperger’s syndrome and pervasive developmental disorder – not otherwise specified (PDD-NOS)] have a significant increase in head size and brain weight. However, the findings from older children and adults with ASD are inconsistent. This may reflect the relatively small sample sizes that were studied, clinical heterogeneity, or age-related brain differences. METHOD: Hence, we measured head size (intracranial volume), and the bulk volume of ventricular and peripheral cerebrospinal fluid (CSF), lobar brain, and cerebellum in 114 people with ASD and 60 controls aged between 18 and 58 years. The ASD sample included 80 people with Asperger’s syndrome, 28 with autism and six with PDD-NOS. RESULTS: There was no significant between-group difference in head and/or lobar brain matter volume. However, compared with controls, each ASD subgroup had a significantly smaller cerebellar volume, and a significantly larger volume of peripheral CSF. CONCLUSIONS: Within ASD adults, the bulk volume of cerebellum is reduced irrespective of diagnostic subcategory. Also the significant increase in peripheral CSF may reflect differences in cortical maturation and/or ageing.
27. Herndon AC, DiGuiseppi C, Johnson SL, Leiferman J, Reynolds A. {{Does nutritional intake differ between children with autism spectrum disorders and children with typical development?}}. {J Autism Dev Disord};2009 (Feb);39(2):212-222.
Consumption of macro- and micronutrients and food group servings by children with autism spectrum disorders (ASDs; n = 46) and typical development (n = 31) were compared using 3-day diet records. Children with ASDs consumed significantly more vitamin B6 and E and non-dairy protein servings, less calcium, and fewer dairy servings (p < .05). The significantly lower dairy serving intake persisted after controlling for child age and sex and parental dietary restrictions, and excluding children on the gluten-free casein-free (GFCF) diet. Large proportions of children in both groups did not meet national recommendations for daily intake of fiber, calcium, iron, vitamin E, and vitamin D.
28. Hoffman L. {{Asperger’s syndrome and Autistic disorder: clearly differentiating the diagnostic criteria}}. {Am J Psychiatry};2009 (Feb);166(2):235; author reply 235-236.
29. Inglese MD. {{Caring for children with autism spectrum disorder. Part II: screening, diagnosis, and management}}. {J Pediatr Nurs};2009 (Feb);24(1):49-59.
Recent emphasis on the importance of early identification and intervention for children with autism spectrum disorder (ASD) highlights the need for nurses in the community and primary care settings to learn to screen for ASD in children. In addition, given that ASD now affects 1 in 150 children, it is probable that nurses in a variety of settings, at all practice levels, will encounter children with ASD. Nurses need to be able to support families, educate parents, manage basic issues relevant to ASD, and advocate for these children and their families.
30. Inglese MD, Elder JH. {{Caring for children with autism spectrum disorder. Part I: prevalence, etiology, and core features}}. {J Pediatr Nurs};2009 (Feb);24(1):41-48.
Autism spectrum disorder (ASD) affects 1 in 150 children and has been gaining national attention over the past decade. Given the prevalence of this disorder, there is a high probability that pediatric nurses will care for a child with ASD, regardless of the setting in which they work. Children with ASD traverse the primary care outpatient setting, schools, subspecialty clinics, and inpatient units. A basic understanding of the current issues regarding prevalence and etiology, coupled with knowledge of the core features of ASD, will help pediatric nurses in all settings and at various practice levels better care for these children.
31. Jackson JN, Campbell JM. {{Teachers’ peer buddy selections for children with autism: social characteristics and relationship with peer nominations}}. {J Autism Dev Disord};2009 (Feb);39(2):269-277.
We examined social and behavioral characteristics of children selected by their teachers to serve as peer buddies for a child with autism. Thirty-one general education teachers and 576 children from five public elementary schools completed social status, behavioral, and peer buddy nomination measures. When compared to non-selected students, teacher selected buddies were: (a) more often boys, (b) popular, and (c) viewed as prosocial leaders by their peers. Agreement between teacher and peer nominations of social status and behavioral characteristics ranged from low to high; agreement between teacher and peer selected buddies was moderate.
32. Jasmin E, Couture M, McKinley P, Reid G, Fombonne E, Gisel E. {{Sensori-motor and daily living skills of preschool children with autism spectrum disorders}}. {J Autism Dev Disord};2009 (Feb);39(2):231-241.
Sensori-motor development and performance of daily living skills (DLS) remain little explored in children with autism spectrum disorders (ASD). The objective of this study was to determine the impact of sensori-motor skills on the performance of DLS in preschool children with ASD. Thirty-five children, 3-4 years of age, were recruited and assessed with a battery of diagnostic and clinical tests. Children showed atypical sensory responses, very poor motor and DLS. Sensory avoiding, an excessive reaction to sensory stimuli, and fine motor skills were highly correlated with DLS, even when cognitive performance was taken into account. Sensori-motor deficits have an impact on the autonomy of children with ASD and interventions should aim at improving and supporting the development of sensori-motor skills.
33. Klin A. {{Embracing the challenge of bold theories of autism}}. {Br J Psychol};2009 (Feb);100(Pt 1):29-32.
This article is a commentary on ‘Fetal testosterone and autistic traits’ (Auyeung et al., 2009).
34. Lazarev VV, Pontes A, deAzevedo LC. {{EEG photic driving: right-hemisphere reactivity deficit in childhood autism. A pilot study}}. {Int J Psychophysiol};2009 (Feb);71(2):177-183.
In 14 autistic boys, aged 6-14 years, free of drug treatment, with relatively intact verbal functions and without severe or moderate mental retardation (I.Q. 91.4+/-22.8), intermittent photic stimulation at 11 fixed frequencies of 3-24 Hz revealed latent deficiency of the right hemisphere in the photic driving reactivity, predominantly at the fast alpha and beta frequencies of stimulation. The left-side prevalence was observed: 1) in the total number of driving peaks evaluated for the first four harmonics in the EEG spectra of 14 cortical areas and 2) in the driving amplitude in the spectra of the 2 occipital areas. As compared to 21 normally developing boys matched on age who did not show interhemispheric asymmetry in the driving reactivity, the autistic patients had significantly lower driving characteristics only in the right hemisphere. There were no significant differences between the autistic and control groups in the spontaneous EEG spectra of the occipital areas in the resting state.
35. Lecavalier L, Gadow KD, DeVincent CJ, Edwards MC. {{Validation of DSM-IV model of psychiatric syndromes in children with autism spectrum disorders}}. {J Autism Dev Disord};2009 (Feb);39(2):278-289.
The objective of this study was to assess the internal construct validity of the DSM-IV as a conceptual model for characterizing behavioral syndromes in children with ASD. Parent and teachers completed the Child Symptom Inventory-4, a DSM-IV-referenced rating scale, for 6-to-12 year old clinic referrals with an ASD (N = 498). Ratings were submitted to confirmatory factor analysis and models were assessed for fit. Results were also compared to those obtained for a sample of non-ASD psychiatric outpatient school-age children. Fit indices ranged from acceptable to good for the ASD samples and compared well to those obtained in typically developing children. Findings lend support to the notion that DSM-IV syndromes may be an appropriate conceptual model for characterizing psychopathology in ASD.
36. Lenoir P, Bodier C, Desombre H, Malvy J, Abert B, Ould Taleb M, Sauvage D. {{[Prevalence of pervasive developmental disorders. A review]}}. {Encephale};2009 (Feb);35(1):36-42.Sur la prevalence de l’autisme et des troubles envahissants du developpement (TED).
INTRODUCTION: Estimates of the prevalence of autism and pervasive developmental disorders (PDD) are discordant and are moving towards an apparent increase in rates. LITERATURE REVIEW: The studies carried out since 1966 illustrate the variability of the protocols used and explanatory hypotheses put forward. These investigations are difficult, sparse, but still growing at the same time that a debate develops on the possible increase in actual prevalence. Indeed, the rate initially admitted for classic autism was 5/10,000, then 1/1000 with an expanded definition to the forms, but the current figures are very different (almost 0.7% for all PDD), and this increase raises questions. The arguments in favour of an apparent increase are primarily methodological. Several biases are encountered when one compares the recent publications with those of previous years. First, autism is better known and recognized than 30 or 40 years ago. Then, the diagnostic criteria used over time are changing variables, and comparisons difficult. Recent studies using the criteria of a broader definition of autism, polyhandicap with severe retardation and autism signs of lighter forms. The fact that children with autism are diagnosed more frequently in the younger age could also occasionally lead to an artificial increase in the number of cases identified in new surveys in populations of young children. Other factors are cited to explain the current increase. There could be higher rates of autism (and mental retardation) among children of migrants from distant countries, with the aetiological hypothesis of maternal infections, more frequent due to immune deficiency against infectious agents depending on the environment, metabolic decompensations also related to changes in surroundings, or more births from unions among migrant mothers and men with Asperger syndrome (with increased risk of paternity of a child with autism). Other theories relate to pollution, vaccinations, a growing number of premature babies; all assumptions that appear, for the time being, insufficiently explored and documented. The issue is also one of the motivations underlying these steps, and setting a parallel prevalence actually increased with this or that factor has presently been scientifically validated. Finally, if a careful reading of recent publications indicates that autism has become more frequent; assumptions that describe an increase in « artificial », based on methodological arguments, seem to be more consistent. EFFECTS OF EXTENSION OF DIAGNOSTIC CRITERIA AND NOSOGRAPHY FOR PDD: Today, the recruitment of individuals with autism in a population far exceeds the initial criteria of Kanner in the 1970’s. It includes clinical forms with associated pathologies, or lighter and probably more frequent clinical forms. Other assumptions arouse interest, but also controversy regarding their relevance. The enumeration of cases of PDD in a population is actually at its beginning. In the 1970’s, « childhood psychoses » (the term then used) seemed rare. The identification of cases was probably the main reason. Long available figures remain scarce, and their rate increases gradually from the 1990s, but is, in fact, a problem of inflation. What is the part played in this flight of changing diagnostic criteria and substitutions, or other methodological effects? Or even opportunistic effects, if we speak of an epidemic to undermine a variety of factors. The evidence provided so far is the improved identification of cases, enlargement of the concept, and better shared diagnostic criteria. However, the validity and limitations of clinical forms are still vague and unresolved. DISCUSSION: How to study epidemiology in the future – to move forward, studies should be designed with partners’ medical history and medicosocial studies, based on a better consensual methodology, epidemiology, statistics and diagnosis, with a definition of the thresholds for inclusion, and arbitration procedures. On this basis, a study must also be coordinated with those concerning mental retardation, learning disorders, etc, otherwise the same topics will be counted twice or even three times. As for the addition of syndromic forms of PDD (those with known aetiology), their number is still below a proportion sufficient to be an appeal. Moreover, another problem exists: the degree of membership of each of these syndromes, or individual cases, or autistic spectrum disorders (internal variability phenotypes). For the moment, we could design two studies included better: developmental disorders and associated pathologies. Regarding the « ethic » dimension, a more regular diagnosis of PDD (preferred to that of mental retardation or learning disorder) will lead to shared practices and set limits for greater recognition.
37. Li MR, Pan H, Bao XH, Zhu XW, Cao GN, Zhang YZ, Wu XR. {{[Correlation between MECP2 genotype and phenotype in Chinese patients with Rett syndrome]}}. {Zhonghua Er Ke Za Zhi};2009 (Feb);47(2):124-128.
OBJECTIVE: Rett syndrome (RTT) is a neurodevelopmental disorder that represents one of the most common genetic causes of mental retardation in girls. The aim of this study was to investigate the correlation between MECP2 genotype and phenotype and thereby not only to provide assistance for clinical care, but also facilitate clinical genetic counseling. METHOD: Individual phenotype characteristic and clinical severity of 126 children with RTT diagnosed by molecular genetic methods were evaluated by using scales of Kerr et al and Scala et al. Statistical package SPSS 12.0 was used for analyses of data. Since the majority of the data were not normally distributed, non-parametric tests were used. The Kruskal-Wallis test/Wilcoxon Mann-Whitney test was employed to compare total severity phenotype scores. The Fisher exact test was used for comparing rates. Statistical significance was set at P < 0.05. RESULT: There were no significant differences in the average overall scores for RTT patients with mutations in the region of methyl-CpG-binding domain (MBD) compared with those mutations in the transcription repression domain (TRD) and C terminal segment (CTS), also patients with nonsense mutations compared with missense mutations, frameshift mutations and large deletions (P > 0.05). The RTT patients with nonsense mutations located in the region of MBD have more severe phenotype than those with missense mutations in the same region (P = 0.016). Among p.T158M, p.R168X, c.806delG and p.R255X, there were no significant differences in the average overall scores (P > 0.05), but there were significant differences in language skill (P = 0.028) and in language impairment rate at different level (P = 0.019). CONCLUSION: There are relationships between MECP2 genotype and phenotype:the RTT patients with nonsense mutations located in MBD tend to develop more severe phenotype;there are significant differences in language skill and language impairment rate in the groups with p.T158M, p.R168X, c.806del and p.R255X, which had higher frequency in children below five-years of age and the p.R168X present with most severe impairment.
38. Lindgren KA, Folstein SE, Tomblin JB, Tager-Flusberg H. {{Language and reading abilities of children with autism spectrum disorders and specific language impairment and their first-degree relatives}}. {Autism Res};2009 (Feb);2(1):22-38.
Autism spectrum disorder (ASD) and specific language impairment (SLI) are developmental disorders exhibiting language deficits, but it is unclear whether they arise from similar etiologies. Language impairments have been described in family members of children with ASD and SLI, but few studies have quantified them. In this study, we examined IQ, language, and reading abilities of ASD and SLI children and their first-degree relatives to address whether the language difficulties observed in some children with ASD are familial and to better understand the degree of overlap between these disorders and their broader phenotypes. Participants were 52 autistic children, 36 children with SLI, their siblings, and their parents. The ASD group was divided into those with (ALI, n=32) and without (ALN, n=20) language impairment. Relationships between ASD severity and language performance were also examined in the ASD probands. ALI and SLI probands performed similarly on most measures while ALN probands scored higher. ALN and ALI probands’ language scores were not related to Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule algorithm scores. SLI relatives scored lowest on all measures, and while scores were not in the impaired range, relatives of ALI children scored lower than relatives of ALN children on some measures, though not those showing highest heritability in SLI. Given that ALI relatives performed better than SLI relatives across the language measures, the hypothesis that ALI and SLI families share similar genetic loading for language is not strongly supported.
39. Liu X, Novosedlik N, Wang A, Hudson ML, Cohen IL, Chudley AE, Forster-Gibson CJ, Lewis SM, Holden JJ. {{The DLX1and DLX2 genes and susceptibility to autism spectrum disorders}}. {Eur J Hum Genet};2009 (Feb);17(2):228-235.
An imbalance between excitation and inhibition in the cerebral cortex has been suggested as a possible etiology of autism. The DLX genes encode homeodomain-containing transcription factors controlling the generation of GABAergic cortical interneurons. The DLX1 and DLX2 genes lie head-to-head in 2q32, a region associated with autism susceptibility. We investigated 6 Tag SNPs within the DLX1/2 genes in two cohorts of multiplex (MPX) and one of simplex (SPX) families for association with autism. Family-based association tests showed strong association with five of the SNPs. The common alleles of rs743605 and rs4519482 were significantly associated with autism (P<0.012) in the first sample of 138 MPX families, with the latter remaining significant after correction for multiple testing (P(cor)=0.0046). Findings in a second sample of 169 MPX families not only confirmed the association at rs4519482 (P=0.034) but also showed strong allelic association of the common alleles at rs788172, rs788173 and rs813720 (P(cor)=0.0003-0.04). In the combined MPX families, the common alleles were all significantly associated with autism (P(cor)=0.0005-0.016). The GGGTG haplotype was over transmitted in the two MPX cohorts and the combined samples [P(cor)<0.05: P(cor)=0.00007 for the combined MPX families, Odds Ratio: 1.75 (95% CI: 1.33-2.30)]. Further testing in 306 SPX families replicated the association at rs4519482 (P=0.033) and the over transmission of the haplotype GGGTG (P=0.012) although P-values were not significant after correction for multiple testing. The findings support the presence of two functional polymorphisms, one in or near each of the DLX genes that increase susceptibility to, or cause, autism in MPX families where there is a greater genetic component for these conditions.
40. Love JR, Carr JE, Leblanc LA. {{Functional assessment of problem behavior in children with autism spectrum disorders: a summary of 32 outpatient cases}}. {J Autism Dev Disord};2009 (Feb);39(2):363-372.
The purpose of this study was to examine archival data from an outpatient clinic serving children with autism spectrum disorders to investigate the occurrence of problem behavior functions in this sample. Results indicated that social reinforcement (e.g., attention from others) was involved in maintaining problem behavior for the majority of cases, suggesting that these children lacked socially appropriate responses to access such reinforcement, or that their social environments contained insufficient social reinforcement. Further, the data suggest that problem behavior exhibited by children with autism spectrum disorders can be conceptualized similarly to the problem behavior of children with other developmental disabilities.
41. Marui T, Funatogawa I, Koishi S, Yamamoto K, Matsumoto H, Hashimoto O, Nanba E, Nishida H, Sugiyama T, Kasai K, Watanabe K, Kano Y, Sasaki T, Kato N. {{Association of the neuronal cell adhesion molecule (NRCAM) gene variants with autism}}. {Int J Neuropsychopharmacol};2009 (Feb);12(1):1-10.
Autism is a severe neurodevelopmental disorder of early childhood. Genetic factors play an important role in the aetiology of the disorder. In this study, we considered the NRCAM gene as a candidate gene of autism. This gene is expressed in the central nervous system and located in the 7q region, a susceptibility locus of autism. We conducted a case-control study of 18 single nucleotide polymorphisms (SNPs) within the NRCAM gene for possible association with autism in 170 autistic patients and 214 normal controls in a Japanese population. Seven SNPs in the NRCAM gene were significantly associated with autism, among which rs2300045 indicated the most prominent result (p=0.0009 uncorrected, p=0.017 corrected). In haplotype analyses, several individual haplotypes, including a common NRCAM haplotype C-T-T-C-T-T-G-C for rs3763463, rs1859767, rs1034825, rs2300045, rs2300043, rs2300039, rs722519, and rs2216259, showed a significant association after Bonferroni correction (p=0.0035 uncorrected, p=0.028 corrected). These haplotypes were located in the 5′ intron-2 region of the gene. In addition, we also assessed the above mentioned SNPs and haplotypes using the transmission disequilibrium test with 148 trios of autistic families. Haplotype G-T-T-T-T-C-G-C in the same eight SNPs was also associated with autism. In summary, our findings provide evidence for a significant association of NRCAM with autism. Considering the important role of the NRCAM gene in brain development, our results therefore indicated that the NRCAM gene is one of the strong candidate genes for autism.
42. Meilleur AA, Fombonne E. {{Regression of language and non-language skills in pervasive developmental disorders}}. {J Intellect Disabil Res};2009 (Feb);53(2):115-124.
BACKGROUND: As part of the pervasive developmental disorders (PDD), there is a subgroup of individuals reported to have a different onset of symptom appearance consisting of an apparently normal early development, followed by a loss of verbal and/or non-verbal skills prior to 2 years of age. This study aims at comparing the symptomatology of children who displayed a regression and often an associated intellectual disability through investigation of two types of loss, namely language and other skill regression. METHODS: This study examined the occurrence of regression in 135 children with PDD, mean age 6.3 years. The sample was composed of 80 (59.4%) children diagnosed with autism, 44 (32.6%) with pervasive developmental disorder-not otherwise specified (PDD-NOS) and 11 (8%) with Asperger syndrome. The Autism Diagnostic Interview Revised (ADI-R) was used to evaluate the type of loss and to characterise associated factors including birth rank, gender and thimerosal exposure through vaccination. RESULTS: A total of 30 (22%) subjects regressed: nine (30%) underwent language regression alone, 17 (57%) lost a skill other than language and four (13%) lost both language and another skill. Significantly higher levels of regression were found in autism (30%) compared with PDD-NOS (14%) and Asperger syndrome (0%). Children who regressed in language skills spoke at a significantly earlier age ( = 12 months) than those who did not regress in this domain ( = 26 months). Parents and interviewers consistently reported developmental abnormalities prior to the loss. ADI-R domain mean scores indicated a more severe autistic symptomatology profile in children who regressed compared with those who did not, especially in the repetitive behaviour domain. Regression was not associated to thimerosal exposure, indirectly estimated by year of birth. CONCLUSIONS: A loss of skill, present in one out of five children with PDD, is associated with a slightly more severe symptomatology as measured by the ADI-R, particularly in the repetitive behaviours domain. Furthermore, although abnormalities are often noticed by the caregivers at the time of regression, the ADI-R reveals that other atypical behaviours were in fact present prior to the onset of regression in most cases. None of the secondary factors investigated were associated with regression. In children unexposed to thimerosal-containing vaccines, the rate of regression was similar to that reported in studies of samples exposed to thimerosal, suggesting that thimerosal has no specific association with regressive autism.
43. Mikati MA, El-Bitar MK, Najjar MW, Rbeiz JJ, Barada WH, Najjar VF, Yaktin U, Tourjuman O. {{A child with refractory complex partial seizures, right temporal ganglioglioma, contralateral continuous electrical status epilepticus, and a secondary Landau-Kleffner autistic syndrome}}. {Epilepsy Behav};2009 (Feb);14(2):411-417.
A 7-year-old, right-handed girl started to have seizures at age 1 year 4 months. She developed normally until age 4 when she had worsening of seizures with auditory verbal agnosia, complete aphasia, and a behavioral disorder fulfilling the diagnostic criteria of autism. Medical therapy failed. MRI revealed a right temporal tumor. Video/EEG monitoring at age 7 showed contralateral electrical status epilepticus in wakefulness and sleep and ipsilateral onset of seizures. Resection (ganglioglioma with excessive inflammation) resulted in seizure freedom and marked reduction of the autistic features. This case is unique for being, to our knowledge, (1) the first in which a lesion located in the right, rather than left, temporal lobe resulted in secondary falsely localizing left temporal lobe electrical status epilepticus with a clinical picture of Landau-Kleffner syndrome and autism, and (2) the fourth reported patient with lesional Landau-Kleffner syndrome to respond to resective surgery.
44. Molloy CA, Murray DS, Kinsman A, Castillo H, Mitchell T, Hickey FJ, Patterson B. {{Differences in the clinical presentation of Trisomy 21 with and without autism}}. {J Intellect Disabil Res};2009 (Feb);53(2):143-151.
BACKGROUND: Autism occurs 10 times more often in children with Down syndrome than in the general population, but diagnosing co-occurring autism in Down syndrome with severe intellectual disability is challenging. The objective of this case-control study was to identify characteristics differentiating children with trisomy 21 with and without autism and to determine the extent to which severe cognitive impairment affects the measures of autism symptomatology. METHOD: Twenty children with trisomy 21 and autism (cases) were compared with children with trisomy 21 without autism (controls) matched on chronologic age, race and gender. Communication, cognitive and adaptive behaviour skills were assessed with standardized instruments. Medical history was reviewed and medical records were examined for early head growth. Scores on the diagnostic algorithm of the Autism Diagnostic Interview–Revised (ADI-R) were compared after adjusting for cognitive ability as measured by the Stanford-Binet (Fifth Edition) non-verbal change sensitive score. RESULTS: Cases performed significantly more poorly on all assessments. Mean case-control differences for matched pairs were all significant at P < 0.0001 for receptive and expressive language skills, cognitive skills and adaptive skills. Seven cases had a history of seizures compared with one control(P = 0.01). After adjusting for cognitive ability, the mean scores on the Reciprocal Social Interaction, Communication, and Restricted, Repetitive and Stereotyped Behaviours domains of the ADI-R diagnostic algorithm remained significantly higher in cases compared with controls (P < 0.0001). All participants had decreased head size consistent with Down syndrome, with no case-control differences. CONCLUSION: Children with trisomy 21 and autism have significantly more impaired brain function than children with trisomy 21 without autism. However, the deficits in the core domains of social reciprocity and communication, and the restricted and repetitive interests are not entirely explained by the more severe cognitive impairment. This autism phenotype in children with trisomy 21 which includes an increased risk for seizures may indicate a widespread loss of functional connectivity in the brain.
45. Monteggia LM, Kavalali ET. {{Rett syndrome and the impact of MeCP2 associated transcriptional mechanisms on neurotransmission}}. {Biol Psychiatry};2009 (Feb 1);65(3):204-210.
Subtle alterations in synaptic function contribute to the pathophysiology associated with several neuropsychiatric diseases. Modifications in synaptic vesicle trafficking can cause frequency-dependent changes in neurotransmission, alter information coding in neural circuits, and affect long-term plasticity. Rett syndrome, a neurodevelopmental disorder that arises from mutations in the methyl-CpG-binding protein-2 (MeCP2) gene, is a salient example for such a disease state in which synaptic transmission-in particular, spontaneous neurotransmission and short-term synaptic plasticity, have been altered. MeCP2 is widely believed to be a transcriptional repressor that silences methylated genes. Recent studies have identified synaptic deficits associated with the loss of MeCP2 in several brain regions, including the hippocampus. These findings suggest a synaptic basis for neurological symptoms associated with Rett syndrome and suggest an important role for transcriptional repression in the regulation of neurotransmission. These studies also highlight the importance of histone deacetylation and DNA methylation, two key epigenetic mechanisms in controlling synaptic function. These mechanisms are essential for chromatin remodeling in neurons as well as for repression of gene activation by MeCP2 and related methyl-binding proteins. Future work focusing on the regulation of DNA methylation and histone deacetylation by synaptic activity and how these epigenetic alterations affect neurotransmission will be critical to elucidate the mechanisms underlying Rett syndrome. In addition, this work will also help delineate a key pathway that regulates properties of neurotransmission in the central nervous system that may underlie additional neuropsychiatric disorders.
46. Mostafa GA, Kitchener N. {{Serum anti-nuclear antibodies as a marker of autoimmunity in Egyptian autistic children}}. {Pediatr Neurol};2009 (Feb);40(2):107-112.
Autism may involve an autoimmune pathogenesis in a subgroup of patients. The frequency of anti-nuclear antibodies in 80 autistic children and their relationship to a family history of autoimmunity were studied, compared with 80 healthy, matched children. Children with autism had a significantly higher percent seropositivity of anti-nuclear antibodies (20%) than healthy children (2.5%; P < 0.01). Fifty percent of anti-nuclear antibody-seropositive autistic children had an anti-nuclear antibody titer of > or =1:640 (very high positive); 25%, > or =1:160 (high positive); and the remaining 25%, 1:80. All anti-nuclear antibody-seropositive healthy children had anti-nuclear antibody titers of 1:80. A family history of autoimmunity was significantly higher in autistic children (47.5%) than healthy controls (8.8%; P < 0.001). Anti-nuclear antibody seropositivity was significantly higher in autistic children with a family history of autoimmunity than those without such history (36.8% and 5%, respectively; P < 0.001). Anti-nuclear antibody seropositivity had significant positive associations with disease severity, mental retardation and electroencephalogram abnormalities. Autoimmunity may play a role in a subgroup of children with autism. Further studies are warranted to assess anti-nuclear antibody seropositivity, other markers of autoimmunity (e.g., brain-specific autoantibodies), and the role of immunotherapy in children with autism.
47. Mulligan A, Anney RJ, O’Regan M, Chen W, Butler L, Fitzgerald M, Buitelaar J, Steinhausen HC, Rothenberger A, Minderaa R, Nijmeijer J, Hoekstra PJ, Oades RD, Roeyers H, Buschgens C, Christiansen H, Franke B, Gabriels I, Hartman C, Kuntsi J, Marco R, Meidad S, Mueller U, Psychogiou L, Rommelse N, Thompson M, Uebel H, Banaschewski T, Ebstein R, Eisenberg J, Manor I, Miranda A, Mulas F, Sergeant J, Sonuga-Barke E, Asherson P, Faraone SV, Gill M. {{Autism symptoms in Attention-Deficit/Hyperactivity Disorder: a familial trait which correlates with conduct, oppositional defiant, language and motor disorders}}. {J Autism Dev Disord};2009 (Feb);39(2):197-209.
It is hypothesised that autism symptoms are present in Attention-Deficit/Hyperactivity Disorder (ADHD), are familial and index subtypes of ADHD. Autism symptoms were compared in 821 ADHD probands, 1050 siblings and 149 controls. Shared familiality of autism symptoms and ADHD was calculated using DeFries-Fulker analysis. Autism symptoms were higher in probands than siblings or controls, and higher in male siblings than male controls. Autism symptoms were familial, partly shared with familiality of ADHD in males. Latent class analysis using SCQ-score yielded five classes; Class 1(31%) had few autism symptoms and low comorbidity; Classes 2-4 were intermediate; Class 5(7%) had high autism symptoms and comorbidity. Thus autism symptoms in ADHD represent a familial trait associated with increased neurodevelopmental and oppositional/conduct disorders.
48. Mundy P, Sullivan L, Mastergeorge AM. {{A parallel and distributed-processing model of joint attention, social cognition and autism}}. {Autism Res};2009 (Feb);2(1):2-21.
The impaired development of joint attention is a cardinal feature of autism. Therefore, understanding the nature of joint attention is central to research on this disorder. Joint attention may be best defined in terms of an information-processing system that begins to develop by 4-6 months of age. This system integrates the parallel processing of internal information about one’s own visual attention with external information about the visual attention of other people. This type of joint encoding of information about self and other attention requires the activation of a distributed anterior and posterior cortical attention network. Genetic regulation, in conjunction with self-organizing behavioral activity, guides the development of functional connectivity in this network. With practice in infancy the joint processing of self-other attention becomes automatically engaged as an executive function. It can be argued that this executive joint attention is fundamental to human learning as well as the development of symbolic thought, social cognition and social competence throughout the life span. One advantage of this parallel and distributed-processing model of joint attention is that it directly connects theory on social pathology to a range of phenomena in autism associated with neural connectivity, constructivist and connectionist models of cognitive development, early intervention, activity-dependent gene expression and atypical ocular motor control.
49. Nelson D, Amplo K. {{Care of the autistic patient in the perioperative area}}. {Aorn J};2009 (Feb);89(2):391-392, 395-397.
50. Olson CD. {{Does prenatal ultrasound increase risk of autism?}}. {J Am Osteopath Assoc};2009 (Feb);109(2):71-72.
51. Ozgen HM, Staal WG, Barber JC, de Jonge MV, Eleveld MJ, Beemer FA, Hochstenbach R, Poot M. {{A novel 6.14 Mb duplication of chromosome 8p21 in a patient with autism and self mutilation}}. {J Autism Dev Disord};2009 (Feb);39(2):322-329.
Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders with a strong genetic etiology. Cytogenetic abnormalities have been detected in 5-10% of the patients with autism. In this study, we present the clinical, cytogenetic and array-comparative genomic hybridization (array-CGH) evaluation of a 13-year-old male with severe developmental delay, facial dysmorphic features, autism and self mutilation. T
