1. {{Autism testing service includes telephone counseling: Bypasses initial genetics exam}}. {Am J Med Genet A};2012 (Apr);158A(4):viii-ix.
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2. Behere A, Shahani L, Noggle CA, Dean R. {{Motor functioning in autistic spectrum disorders: a preliminary analysis}}. {J Neuropsychiatry Clin Neurosci};2012 (Dec 1);24(1):87-94.
The study sought to identify differences in motor functioning between autism and Asperger syndrome while also assessing the diagnostic contribution of such assessment. A sample of 16 individuals with autism and 10 with Asperger syndrome completed the Dean-Woodcock Sensory-Motor Battery, and outcomes were compared. Significant differences were found in measures of cerebellar functioning, favoring Asperger subjects. Deficits in coordination, ambulation, and the Romberg test were associated with both disorders. On the basis of motor outcomes alone, 100% were accurately differentiated. Findings support the idea that motor dysfunction is a core feature of these presentations and demonstrated the utility of motor assessment in diagnostic practice.
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3. Brosnan MJ, Gwilliam LR, Walker I. {{Brief Report: The Relationship Between Visual Acuity, the Embedded Figures Test and Systemizing in Autism Spectrum Disorders}}. {J Autism Dev Disord};2012 (Mar 27)
Enhanced performance upon the Embedded Figures Test (EFT) in individuals with autism spectrum disorder (ASD) has informed psychological theories of the non-social aspects that characterise ASD. The Extreme Male Brain theory of autism proposes that enhanced visual acuity underpins greater attention to detail (assessed by the EFT) which is a prerequisite for Systemizing. To date, however, no study has empirically examined these relationships. 13 males with ASD and 13 male controls were assessed upon tasks argued to reflect these levels of processing. The ASD group were found to have significantly greater visual acuity, EFT performance and Systemizing ability than the control group. However, regression analysis revealed that the strongest relationship was between visual acuity and EFT performance.
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4. Cortese S, Castelnau P, Morcillo C, Roux S, Bonnet-Brilhault F. {{Psychostimulants for ADHD-like symptoms in individuals with autism spectrum disorders}}. {Expert Rev Neurother};2012 (Apr);12(4):461-473.
We conducted a comprehensive review of studies assessing the efficacy and tolerability of psychostimulants for ADHD-like symptoms in individuals with autism spectrum disorder (encompassing autism disorder, Asperger’s syndrome and pervasive developmental disorders not otherwise specified). PubMed, Ovid, EMBASE, Web of Science, ERIC and CINHAL were searched through 3 January 2012. From a pool of 348 potentially relevant references, 12 citations (11 studies) were retained as pertinent. Four of the included studies had a randomized controlled design. Most of the studies assessed methylphenidate immediate release. Despite inter-study heterogeneity, taken together, the results of the selected reports suggest that psychostimulants may be effective for ADHD-like symptoms in autism spectrum disorder individuals. The most common adverse events reported in the included trials were appetite reduction, sleep-onset difficulties, irritability and emotional outbursts. We discuss future directions in the field, including the need for trials assessing more ecological outcomes and combined treatment strategies tailored to the specific individual features.
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5. Flood ZC, Engel DL, Simon CC, Negherbon KR, Murphy LJ, Tamavimok W, Anderson GM, Janusonis S. {{Brain growth trajectories in mouse strains with central and peripheral serotonin differences: relevance to autism models}}. {Neuroscience};2012 (Mar 20)
The genetic heterogeneity of autism spectrum disorders (ASDs) suggests that their underlying neurobiology involves dysfunction at the neural network level. Understanding these neural networks will require a major collaborative effort and will depend on validated and widely accepted animal models. Many mouse models have been proposed in autism research, but the assessment of their validity often has been limited to measuring social interactions. However, two other well-replicated findings have been reported in ASDs as follows: transient brain overgrowth in early postnatal life and elevated 5-HT (serotonin) levels in blood platelets (platelet hyperserotonemia). We examined two inbred mouse strains (C57BL/6 and BALB/c) with respect to these phenomena. The BALB/c strain is less social and exhibits some other autistic-like behaviors. In addition, it has a lower 5-HT synthesis rate in the central nervous system due to a single-nucleotide polymorphism in the tryptophan hydroxylase 2 (Tph2) gene. The postnatal growth of brain mass was analyzed with mixed-effects models that included litter effects. The volume of the hippocampal complex and the thickness of the somatosensory cortex were measured in 3D-brain reconstructions from serial sections. The postnatal whole-blood 5-HT levels in both strains were assessed with high-performance liquid chromatography. With respect to the BALB/c strain, the C57BL/6 strain showed transient brain overgrowth and persistent blood hyperserotonemia. The hippocampal volume was permanently enlarged in the C57BL/6 strain, with no change in the adult brain mass. These results indicate that, in mice, autistic-like shifts in the brain and periphery may be associated with less autistic-like behaviors. Importantly, they suggest that consistency among behavioral, anatomical, and physiological measures may expedite the validation of new and previously proposed mouse models of autism, and that the construct validity of models should be demonstrated when these measures are inconsistent.
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6. Hudziak JJ, Novins DK. {{Proposed Criteria for Autism Spectrum Disorder in the DSM-5}}. {J Am Acad Child Adolesc Psychiatry};2012 (Apr);51(4):343.
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7. Lambert L, Bienvenu T, Allou L, Valduga M, Echenne B, Diebold B, Mignot C, Heron D, Roth V, Saunier A, Moustaine A, Jonveaux P, Philippe C. {{MEF2C mutations are a rare cause of Rett or severe Rett-like encephalopathies}}. {Clin Genet};2012 (Mar 26)
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8. McPartland JC, Reichow B, Volkmar FR. {{Sensitivity and Specificity of Proposed DSM-5 Diagnostic Criteria for Autism Spectrum Disorder}}. {J Am Acad Child Adolesc Psychiatry};2012 (Apr);51(4):368-383.
OBJECTIVE: This study evaluated the potential impact of proposed DSM-5 diagnostic criteria for autism spectrum disorder (ASD). METHOD: The study focused on a sample of 933 participants evaluated during the DSM-IV field trial; 657 carried a clinical diagnosis of an ASD, and 276 were diagnosed with a non-autistic disorder. Sensitivity and specificity for proposed DSM-5 diagnostic criteria were evaluated using field trial symptom checklists as follows: individual field trial checklist items (e.g., nonverbal communication); checklist items grouped together as described by a single DSM-5 symptom (e.g., nonverbal and verbal communication); individual DSM-5 criterion (e.g., social-communicative impairment); and overall diagnostic criteria. RESULTS: When applying proposed DSM-5 diagnostic criteria for ASD, 60.6% (95% confidence interval: 57%-64%) of cases with a clinical diagnosis of an ASD met revised DSM-5 diagnostic criteria for ASD. Overall specificity was high, with 94.9% (95% confidence interval: 92%-97%) of individuals accurately excluded from the spectrum. Sensitivity varied by diagnostic subgroup (autistic disorder = 0.76; Asperger’s disorder = 0.25; pervasive developmental disorder-not otherwise specified = 0.28) and cognitive ability (IQ < 70 = 0.70; IQ >/= 70 = 0.46). CONCLUSIONS: Proposed DSM-5 criteria could substantially alter the composition of the autism spectrum. Revised criteria improve specificity but exclude a substantial portion of cognitively able individuals and those with ASDs other than autistic disorder. A more stringent diagnostic rubric holds significant public health ramifications regarding service eligibility and compatibility of historical and future research.
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9. O’Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, Karakoc E, Mackenzie AP, Ng SB, Baker C, Rieder MJ, Nickerson DA, Bernier R, Fisher SE, Shendure J, Eichler EE. {{Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations}}. {Nat Genet};2012;44(4):471.
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10. Skuse DH. {{DSM-5’s Conceptualization of Autistic Disorders}}. {J Am Acad Child Adolesc Psychiatry};2012 (Apr);51(4):344-346.
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11. Tierney CD, Kurtz M, Souders H. {{Clear as mud: another look at autism, childhood apraxia of speech and auditory processing}}. {Curr Opin Pediatr};2012 (Mar 23)
PURPOSE OF REVIEW: Autism, childhood apraxia of speech and central auditory processing disorder are associated with significant disability. These conditions can be more difficult to diagnose. With significant controversy surrounding their definitions and most effective treatment options, understanding these conditions better may optimize outcomes. RECENT FINDINGS: As earlier diagnosis and treatment become more commonplace, the type and intensity of intervention provided continue to be a topic of extensive interest and research. The protean nature of speech and language disorders requires careful consideration of several diagnostic causes. Problems with speech may reflect motor coordination or apraxia, problems with processing language may reflect an auditory processing disorder, whereas more profound delays may reflect cognitive disability or autism. Early consideration of different causes of delay will aid in the choice and application of appropriate therapies. SUMMARY: Early identification and treatment of speech and language problems are known to result in better outcomes. By expanding one’s differential diagnosis for speech and language disorders and understanding the link between early communication delay and later language learning, one hopes to mitigate the long-term effects these conditions have on children.
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12. Zwaigenbaum L, Bryson SE, Szatmari P, Brian J, Smith IM, Roberts W, Vaillancourt T, Roncadin C. {{Sex Differences in Children with Autism Spectrum Disorder Identified Within a High-Risk Infant Cohort}}. {J Autism Dev Disord};2012 (Mar 28)
Sex differences were examined in 3-year-olds with autism spectrum disorders (ASD) ascertained from a high-risk cohort, and high- and low-risk comparison groups. Participants included 319 high-risk siblings and 129 low-risk controls. Eighty-five siblings were diagnosed with ASD, including 57 of 176 boys (32.4 %) and 28 of 143 girls (19.6 %), implying a relative odds of ASD of 1.65 in boys versus girls. There were modest sex differences on cognitive and adaptive skills and ASD symptom severity at age 3, but differences between boys and girls with ASD mirrored those in the non-ASD groups. The lower than expected male-to-female ratio, and the relatively high cognitive level among diagnosed children, suggest that we have identified an unanticipated number of higher-functioning girls with ASD.
