1. Arnold LE, Aman MG, Li X, Butter E, Humphries K, Scahill L, Lecavalier L, McDougle CJ, Swiezy NB, Handen B, Wilson K, Stigler KA. {{Research Units of Pediatric Psychopharmacology (RUPP) Autism Network Randomized Clinical Trial of Parent Training and Medication: One-Year Follow-Up}}. {J Am Acad Child Adolesc Psychiatry};2012 (Nov);51(11):1173-1184.
OBJECTIVE: To follow up on a three-site, 24-week randomized clinical trial (N = 124) comparing antipsychotic medication alone (MED) with antipsychotic medication plus parent training in the behavior management (COMB) of children with autism spectrum disorders and severe behavior problems. The COMB treatment had shown a significant advantage for child behavioral noncompliance (p = .006, d = 0.34), irritability (p = .01, d = 0.48), and hyperactivity/noncompliance (p = .04, d = 0.55) with a lower medication dose. METHOD: One year after each participant’s termination, the authors mailed an assessment packet with a return-addressed envelope; a telephone call alerted the family. Failure to return packets within 1 month elicited another contact and offers to resend. RESULTS: Eighty-seven of 124 families (70.2%) participated in the follow-up. The improvement difference between treatments attenuated from after treatment to follow-up for noncompliance (d = 0.32 to 0.12) and irritability (d = 0.46 to 0.03). The follow-up differences were nonsignificant (the noncompliance difference also was nonsignificant after treatment for these 87 families). Sixty-seven percent of the COMB group and 53% of the MED group were still taking risperidone, the original study medication. Most needed dose adjustments or additional medication, and the COMB group no longer had a significantly lower dose. All COMB families but only 39% of MED families reported seeking parent training after treatment. Improvements in daily living skills during treatment predicted noncompliance improvement at follow-up for the COMB children, but noncompliance deterioration and especially hyperactivity/noncompliance deterioration for the MED children. CONCLUSIONS: The study treatment experience/familiarity greatly influenced the follow-up treatment: those who had received parent training reported seeking it, whereas those who had not received it tended not to seek it. The superiority of COMB over MED after treatment attenuated by more than half at follow-up.
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2. Bowling FG, Heussler HS, McWhinney A, Dawson PA. {{Plasma and Urinary Sulfate Determination in a Cohort with Autism}}. {Biochem Genet};2012 (Oct 27)
Sulfate is important for mammalian development but is not routinely measured in clinical settings. The renal NaS1 sulfate transporter maintains circulating sulfate levels and is linked to renal sulfate wasting in mice. Some autistic individuals exhibit renal sulfate wasting, but the etiology is yet unknown. We measured plasma and urinary sulfate levels, calculated the fractional excretion index (FEI) of sulfate, and screened for two loss-of-function NaS1 sequence variants (R12X and N174S) in 23 autistic individuals. The FEI sulfate values ranged from 0.13 to 0.50. NaS1 variants were detected in 18 of the 23 individuals (11 heterozygous N174S, four homozygous N174S, two heterozygous R12X, and one individual carried both R12X and N174S). Those individuals with neither sequence variant had FEI sulfate </= 0.34, whereas FEI sulfate >/= 0.35 was found in about 60 % (11 of 18) of individuals that had R12X and/or N174S. This study links renal sulfate wasting with loss-of-function NaS1 sequence variants in humans.
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3. Bregman JD. {{Evidence-based integrated treatment in autism spectrum disorders}}. {J Am Acad Child Adolesc Psychiatry};2012 (Nov);51(11):1113-1115.
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4. Cavalari RN, Romanczyk RG. {{Caregiver perspectives on unintentional injury risk in children with an autism spectrum disorder}}. {J Pediatr Nurs};2012 (Dec);27(6):632-641.
Unintentional injury risk research for children with an autism spectrum disorder (ASD) is currently limited. This article presents findings from a two-phase investigation of caregiver perspectives regarding unintentional injury risk in children with an ASD. Results indicate that children with an ASD exhibit elevated rates of risk-taking behaviors compared with peers, which increases the likelihood of more frequent and severe injuries. In addition, although ASD symptom severity positively correlated with risk-taking behavior and frequency of injury, children with an ASD were rarely rated as high risks for injury by caregivers. Implications are discussed in the context of pediatric health service provision.
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5. Curtis-Cioffi KM, Rodrigueiro DA, Rodrigues VC, Cicarelli RM, Scarel-Caminaga RM. {{Comparison between the polymerase chain reaction-based screening and the southern blot methods for identification of fragile x syndrome}}. {Genet Test Mol Biomarkers};2012 (Nov);16(11):1303-1308.
The fragile X syndrome (FXS), the most common cause of hereditary mental retardation, is caused by expansions of CGG repeats in the FMR1 gene. The gold-standard method to diagnose FXS is the Southern blot (SB). Because SB is laborious and costly, some adaptations in the polymerase chain reaction (PCR) method have been utilized for FXS screening. A previous PCR-based screening method for FXS identification utilizing small amounts of DNA was reported as simple and efficient. The aim of this study was to reproduce the mentioned PCR-based screening method for identification of expanded alleles of the FMR1 gene in Brazilian individuals and to investigate the efficiency of this method in comparison with SB. Utilizing the enzyme Expand Long Template PCR System, 78 individuals were investigated by that PCR-based screening method for FXS identification. Conclusive results were obtained for 75 samples. Considering all the allelic forms of FXS (normal [NL], premutation [PM], and full-mutation [FM]), the comparison of the PCR-based screening method with SB demonstrated 100% of accuracy, sensitivity, and specificity. However, when the PM and the FM were analyzed separately from each other, but together with the NL allele, the accuracy, sensitivity, and specificity decreased (to 42.9%-97.4%). We concluded that the PCR-based screening method was reproducible and capable of identifying all different FXS alleles, but because the differentiation between the PM and the FM alleles was not accurate, SB is still the gold-standard method for the molecular diagnosis of FXS.
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6. Dawson G, Jones EJ, Merkle K, Venema K, Lowy R, Faja S, Kamara D, Murias M, Greenson J, Winter J, Smith M, Rogers SJ, Webb SJ. {{Early behavioral intervention is associated with normalized brain activity in young children with autism}}. {J Am Acad Child Adolesc Psychiatry};2012 (Nov);51(11):1150-1159.
OBJECTIVE: A previously published randomized clinical trial indicated that a developmental behavioral intervention, the Early Start Denver Model (ESDM), resulted in gains in IQ, language, and adaptive behavior of children with autism spectrum disorder. This report describes a secondary outcome measurement from this trial, EEG activity. METHOD: Forty-eight 18- to 30-month-old children with autism spectrum disorder were randomized to receive the ESDM or referral to community intervention for 2 years. After the intervention (age 48 to 77 months), EEG activity (event-related potentials and spectral power) was measured during the presentation of faces versus objects. Age-matched typical children were also assessed. RESULTS: The ESDM group exhibited greater improvements in autism symptoms, IQ, language, and adaptive and social behaviors than the community intervention group. The ESDM group and typical children showed a shorter Nc latency and increased cortical activation (decreased alpha power and increased theta power) when viewing faces, whereas the community intervention group showed the opposite pattern (shorter latency event-related potential [ERP] and greater cortical activation when viewing objects). Greater cortical activation while viewing faces was associated with improved social behavior. CONCLUSIONS: This was the first trial to demonstrate that early behavioral intervention is associated with normalized patterns of brain activity, which is associated with improvements in social behavior, in young children with autism spectrum disorder.
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7. d’Orsi G, Trivisano M, Luisi C, Demaio V, Di Claudio MT, Pascarella MG, Sciruicchio V, Galeone D, La Neve A, Scarpelli F, Calvario T, Minervini M, La Selva L, Specchio LM. {{Epileptic seizures, movement disorders, and breathing disturbances in Rett syndrome: Diagnostic relevance of video-polygraphy}}. {Epilepsy Behav};2012 (Oct 25);25(3):401-407.
Epileptic seizures, movement disorders and breathing disturbances may be observed in Rett syndrome, and correct diagnosis is mandatory for the management. We evaluated the usefulness of video-polygraphy in the differential diagnosis between epileptic and non-epileptic paroxysmal events in eight patients with Rett syndrome. Based on video analysis, myoclonic seizures were usually misdiagnosed as movement disorders and stereotypies; the events identified by parents as generalized tonic-clonic seizures included episodes of motor activity and breathing abnormality. Myoclonic seizures aggravated by inappropriate treatment were evident in four patients; hyperventilation and apnea during wakefulness were present in all patients, while central sleep apneas were present in one patient; sinus tachycardia and cardiac arrhythmias emerged in six patients; cortical myoclonus was disclosed in five patients. In Rett syndrome, video-polygraphy is essential in characterizing the clinical features of paroxysmal events, determining autonomic dysfunctions, documenting myoclonic motor phenomena, and evaluating the responses to the treatment of epilepsy.
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8. Koldewyn K, Weigelt S, Kanwisher N, Jiang Y. {{Multiple Object Tracking in Autism Spectrum Disorders}}. {J Autism Dev Disord};2012 (Oct 27)
Difficulties in visual attention are often implicated in autism spectrum disorders (ASD) but it remains unclear which aspects of attention are affected. Here, we used a multiple object tracking (MOT) task to quantitatively characterize dynamic attentional function in children with ASD aged 5-12. While the ASD group performed significantly worse overall, the group difference did not increase with increased object speed. This finding suggests that decreased MOT performance is not due to deficits in dynamic attention but instead to a diminished capacity to select and maintain attention on multiple targets. Further, MOT performance improved from 5 to 10 years in both typical and ASD groups with similar developmental trajectories. These results argue against a specific deficit in dynamic attention in ASD.
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9. Ni Chuileann S, Quigley J. {{Assessing Recollection and Familiarity in Low Functioning Autism}}. {J Autism Dev Disord};2012 (Oct 30)
Methods to assess recollection and familiarity separately in autism spectrum disorder were recently developed and piloted (Bigham et al. in J Autism Dev Disord 40:878-889, 2010). The preliminary data obtained via these methods showed that whereas recollection was mildly impaired in high functioning autism, familiarity was spared. The current study set out to replicate the methods of assessment for recollection and familiarity devised by Bigham and her colleagues with individuals diagnosed with low functioning autism (LFA). Three critical modifications to the original paradigms were made within the current study. The modifications and implications of the findings for individuals with LFA will be discussed.
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10. Reinvall O, Voutilainen A, Kujala T, Korkman M. {{Neurocognitive Functioning in Adolescents with Autism Spectrum Disorder}}. {J Autism Dev Disord};2012 (Oct 27)
There is a paucity of research studying comprehensive neurocognitive profiles of adolescents with higher functioning autism spectrum disorders (ASD). This study compared the neurocognitive profiles of higher functioning adolescents with ASD (n = 30, mean age 13.5) with that of typically developing adolescents (n = 30; mean age 13.7). Adolescents with ASD demonstrated a significantly higher mean Verbal Intelligence Quotient compared to the standardized mean. However, the ASD group had significantly lower scores than the control group on the subtests Auditory Attention and Response Set, Memory for Faces, Visuomotor Precision, and Design Copying. Thus, particular strengths were seen in verbal reasoning, while weaknesses were observed in auditory attention, facial recognition memory, and visuomotor functions in adolescents with ASD.
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11. Scahill L, Hallett V, Aman MG, McDougle CJ, Eugene Arnold L, McCracken JT, Tierney E, Deng Y, Dziura J, Vitiello B. {{Brief Report: Social Disability in Autism Spectrum Disorder: Results from Research Units on Pediatric Psychopharmacology (RUPP) Autism Network Trials}}. {J Autism Dev Disord};2012 (Oct 27)
There is growing interest in measuring social disability as a core element of autism spectrum disorders in medication trials. We conducted a secondary analysis on the Aberrant Behavior Checklist Social Withdrawal subscale using data from two federally-funded, multi-site, randomized trials with risperidone. Study 1 included 52 subjects assigned to placebo and 49 subjects to risperidone under double-blind conditions. Study 2 included 49 subjects assigned to risperidone only and 75 subjects assigned to risperidone plus parent training. After 8 weeks of treatment, all active treatments were superior to placebo (effect sizes ranging from 0.42 to 0.65). The findings suggest that the Social Withdrawal subscale may be a useful measure of social disability in acute treatment trials.
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12. Szatmari P, Charman T, Constantino JN. {{Into, and out of, the « valley of death »: research in autism spectrum disorders}}. {J Am Acad Child Adolesc Psychiatry};2012 (Nov);51(11):1108-1112.
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13. van der Meer JM, Oerlemans AM, van Steijn DJ, Lappenschaar MG, de Sonneville LM, Buitelaar JK, Rommelse NN. {{Are autism spectrum disorder and attention-deficit/hyperactivity disorder different manifestations of one overarching disorder? Cognitive and symptom evidence from a clinical and population-based sample}}. {J Am Acad Child Adolesc Psychiatry};2012 (Nov);51(11):1160-1172 e1163.
OBJECTIVE: Autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD) frequently co-occur. Given the heterogeneity of both disorders, several more homogeneous ASD-ADHD comorbidity subgroups may exist. The current study examined whether such subgroups exist, and whether their overlap or distinctiveness in associated comorbid symptoms and cognitive profiles gives support for a gradient overarching disorder hypothesis or a separate disorders hypothesis. METHOD: Latent class analysis was performed on Social Communication Questionnaire (SCQ) and Conners’ Parent Rating Scale (CPRS-R:L) data for 644 children and adolescents (5 through 17 years of age). Classes were compared for comorbid symptoms and cognitive profiles of motor speed and variability, executive functioning, attention, emotion recognition, and detail-focused processing style. RESULTS: Latent class analysis revealed five classes: two without behavioral problems, one with only ADHD behavior, and two with both clinical symptom levels of ASD and ADHD but with one domain more prominent than the other (ADHD[+ASD] and ASD[+ADHD]). In accordance with the gradient overarching disorder hypothesis were the presence of an ADHD class without ASD symptoms and the absence of an ASD class without ADHD symptoms, as well as cognitive functioning of the simple ADHD class being less impaired than that of both comorbid classes. In conflict with this hypothesis was that there was some specificity of cognitive deficits across classes. CONCLUSIONS: The overlapping cognitive deficits may be used to further unravel the shared etiological underpinnings of ASD and ADHD, and the nonoverlapping deficits may indicate why some children develop ADHD despite their enhanced risk for ASD. The two subtypes of children with both ASD and ADHD behavior will most likely benefit from different clinical approaches.
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14. van Rijn S, de Sonneville L, Lahuis B, Pieterse J, van Engeland H, Swaab H. {{Executive Function in MCDD and PDD-NOS: A Study of Inhibitory Control, Attention Regulation and Behavioral Adaptivity}}. {J Autism Dev Disord};2012 (Oct 27)
A proportion of children within the autism spectrum is at risk for severe deregulation of thought, emotion and behaviour resulting in (symptoms of) psychotic disorders over the course of development. In an attempt to identify this subgroup, children with PDD-NOS, subtype MCDD (n = 24) were compared to children with PDD-NOS (n = 23) on executive function (EF) skills. Significant differences emerged, always to the disadvantage of the children with PDD-NOS, subtype MCDD on various EF measures. The findings suggest compromised attention regulation and impaired inhibitory control in children with MCDD, which may help explain high levels of thought problems which are frequently observed in these children. Our findings provide evidence for recognizing a PDD subcategory of MCDD that is of specific interest with regard to long-term developmental risks involved.
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15. Veenstra-Vanderweele J. {{In this Issue/Abstract Thinking: Fragile X Syndrome and the Coming of Molecularly Targeted Treatments for Neurodevelopmental Disorders}}. {J Am Acad Child Adolesc Psychiatry};2012 (Nov);51(11):1103-1104.
