Pubmed du 4/12/08

Pubmed du jour

2008-12-04 12:03:50

1. Bolte S, Dziobek I, Poustka F. {{Brief Report: The Level and Nature of Autistic Intelligence Revisited}}. {J Autism Dev Disord};2008 (Dec 4)

Owing to higher performance on the Raven’s Progressive Matrices (RPM) than on the Wechsler Intelligence Scales (WIS), it has recently been argued that intelligence is underestimated in autism. This study examined RPM and WIS IQs in 48 individuals with autism, a mixed clinical (n = 28) and a neurotypical (n = 25) control group. Average RPM IQ was higher than WIS IQ only in the autism group, albeit to a much lesser degree than previously reported and only for individuals with WIS IQs <85. Consequently, and given the importance of reliable multidimensional IQ estimates in autism, the WIS are recommended as first choice IQ measure in high functioning individuals. Additional testing with the RPM might be required in the lower end of the spectrum.

2. Lind SE, Bowler DM. {{Delayed Self-recognition in Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2008 (Dec 3)

This study aimed to investigate temporally extended self-awareness (awareness of one’s place in and continued existence through time) in autism spectrum disorder (ASD), using the delayed self-recognition (DSR) paradigm (Povinelli et al., Child Development 67:1540-1554, 1996). Relative to age and verbal ability matched comparison children, children with ASD showed unattenuated performance on the DSR task, despite showing significant impairments in theory-of-mind task performance, and a reduced propensity to use personal pronouns to refer to themselves. The results may indicate intact temporally extended self-awareness in ASD. However, it may be that the DSR task is not an unambiguous measure of temporally extended self-awareness and it can be passed through strategies which do not require the possession of a temporally extended self-concept.

3. Lindell AK, Notice K, Withers K. {{Reduced language processing asymmetry in non-autistic individuals with high levels of autism traits}}. {Laterality};2008 (Dec 3):1-16.

In the normal population the left hemisphere’s predominance for language processing is well established. However, in disorders such as autism atypical patterns of hemispheric lateralisation are common. Given increasing recognition of the idea that autism represents a continuum, we investigated whether the reduced/absent hemispheric asymmetry for language processing extended into the normal population at the upper end of the autism spectrum. A total of 51 participants completed the AQ questionnaire (Baron-Cohen et al., 2001), and a lateralised lexical decision task assessing identification of concrete and abstract words. Based on the clinical finding of decreased hemispheric asymmetry in people with autism, we anticipated reduced hemispheric lateralisation in non-autistic people with higher levels of autism traits. Consistent with prediction, whereas people with lower AQ scores showed a clear right visual field (left hemisphere) advantage for word/nonword discrimination, people with higher AQ scores showed equivalent performance for the left and right visual fields. Our data indicate reduced left hemisphere language dominance in people with higher levels of autism traits, just as people with a clinical diagnosis of autism show atypical lateralisation. Moreover, the data offer further support for the notion that autism is a continuum, rather than a categorical diagnosis, with atypical patterns of hemispheric asymmetry being characteristic of people at the upper end of the spectrum.

4. Nijmeijer JS, Hoekstra PJ, Minderaa RB, Buitelaar JK, Altink ME, Buschgens CJ, Fliers EA, Rommelse NN, Sergeant JA, Hartman CA. {{PDD Symptoms in ADHD, an Independent Familial Trait?}} {J Abnorm Child Psychol};2008 (Dec 3)

The aims of this study were to investigate whether subtle PDD symptoms in the context of ADHD are transmitted in families independent of ADHD, and whether PDD symptom familiality is influenced by gender and age. The sample consisted of 256 sibling pairs with at least one child with ADHD and 147 healthy controls, aged 5-19 years. Children who fulfilled criteria for autistic disorder were excluded. The Children’s Social Behavior Questionnaire (CSBQ) was used to assess PDD symptoms. Probands, siblings, and controls were compared using analyses of variance. Sibling correlations were calculated for CSBQ scores after controlling for IQ, ADHD, and comorbid anxiety. In addition, we calculated cross-sibling cross-trait correlations. Both children with ADHD and their siblings had higher PDD levels than healthy controls. The sibling correlation was 0.28 for the CSBQ total scale, with the CSBQ stereotyped behavior subscale showing the strongest sibling correlation (r = 0.35). Sibling correlations remained similar in strength after controlling for IQ and ADHD, and were not confounded by comorbid anxiety. Sibling correlations were higher in female than in male probands. The social subscale showed stronger sibling correlations in elder than in younger sibling pairs. Cross-sibling cross-trait correlations for PDD and ADHD were weak and not-significant. The results confirm that children with ADHD have high levels of PDD symptoms, and further suggest that the familiality of subtle PDD symptoms in the context of ADHD is largely independent from ADHD familiality.

5. Opitz JM, Smith JF, Santoro L. {{The FG syndromes (Online Mendelian Inheritance in Man 305450): perspective in 2008}}. {Adv Pediatr};2008;55:123-170.

Rarely in the history of medicine has an X-linked mental retardation syndrome so thoroughly entered every branch of medicine, at least of pediatrics, but also of internal medicine, on account of its protean manifestations. In such countries as Zambia, malaria, tuberculosis, HIV, and other infections diseases, and many environmental and nutritional disorders still top the list of childhood morbidity and mortality. However, in the more developed nations of the Old and New Worlds, prematurity, birth defects, and genetic conditions constitute the major burden of infant mortality adn chronic childhood handicaps. One of the most pervasive of these is the group of FG syndromes seen in every pediatric clinic and mental health service. Thus, in our experience FGS emerges as the most common yet the least known developmental disabilities condition in our society. FGS imposes a tremendous burden of morbidity, and to some extent also of mortality, on society and families. After successful neonatal adaptation, such recurring problems as otitis, reactive airway disease, and constipation can be routinely treated symptomatically. However, the neurodevelopmental burden represents the greatest challenge that FGS presents for families and to society. Under the best of circumstances, motor and speech development catch up. However, virtually all FGS children, boys and girls, have difficulties in psychologic development, school performance, and ultimate emotional adaptation to adult life and social integration. The many such cases added to those with outright psychiatric disturbances are overwhelming social, psychologic, and psychiatric services and, above all, public and private school systems, which are understaffed, under-funded, beyond formulating individual educational plans, and helpless to deal with the enormous burden of special service needs of these children. It’s time that handicapped children receive care according to needs and not according to diagnosis. However, the near absence of information on FGS available to these professionals is a handicap in arriving at a specific diagnosis (allowing state and federal support for special services) and in understanding the prognosis, natural history, and such complications as « autism, » seizures, and tethered cord that affect the child’s success at home, in school, and out in society. The FGS parent support group has been of enormous help in informing families about all of these « issues, » and to this day remains the greatest repository of knowledge on FGS. As they say in baseball, it is time at long last for the professionals « to step up to the plate. »

6. Pagnamenta AT, Wing K, Akha ES, Knight SJ, Bolte S, Schmotzer G, Duketis E, Poustka F, Klauck SM, Poustka A, Ragoussis J, Bailey AJ, Monaco AP. {{A 15q13.3 microdeletion segregating with autism}}. {Eur J Hum Genet};2008 (Dec 3)

Autism and mental retardation (MR) show high rates of comorbidity and potentially share genetic risk factors. In this study, a rare approximately 2 Mb microdeletion involving chromosome band 15q13.3 was detected in a multiplex autism family. This genomic loss lies between distal break points of the Prader-Willi/Angelman syndrome locus and was first described in association with MR and epilepsy. Together with recent studies that have also implicated this genomic imbalance in schizophrenia, our data indicate that this CNV shows considerable phenotypic variability. Further studies should aim to characterise the precise phenotypic range of this CNV and may lead to the discovery of genetic or environmental modifiers.European Journal of Human Genetics advance online publication, 3 December 2008; doi:10.1038/ejhg.2008.228.

7. Pijnacker J, Hagoort P, Buitelaar J, Teunisse JP, Geurts B. {{Pragmatic Inferences in High-Functioning Adults with Autism and Asperger Syndrome}}. {J Autism Dev Disord};2008 (Dec 4)

Although people with autism spectrum disorders (ASD) often have severe problems with pragmatic aspects of language, little is known about their pragmatic reasoning. We carried out a behavioral study on high-functioning adults with autistic disorder (n = 11) and Asperger syndrome (n = 17) and matched controls (n = 28) to investigate whether they are capable of deriving scalar implicatures, which are generally considered to be pragmatic inferences. Participants were presented with underinformative sentences like « Some sparrows are birds ». This sentence is logically true, but pragmatically inappropriate if the scalar implicature « Not all sparrows are birds » is derived. The present findings indicate that the combined ASD group was just as likely as controls to derive scalar implicatures, yet there was a difference between participants with autistic disorder and Asperger syndrome, suggesting a potential differentiation between these disorders in pragmatic reasoning. Moreover, our results suggest that verbal intelligence is a constraint for task performance in autistic disorder but not in Asperger syndrome.

8. Williams ME, Atkins M, Soles T. {{Assessment of Autism in Community Settings: Discrepancies in Classification}}. {J Autism Dev Disord};2008 (Dec 3)

Review of 78 evaluations for 29 young children examined practices used in assessment of autism spectrum disorders in three settings: public schools, developmental disabilities eligibility determinations, and our hospital-based early childhood mental health program. While similar rates of classification of autism spectrum disorders were found across sites, the rate of agreement by different evaluators for individual children was only 45%. Further, most community evaluators did not follow best practice guidelines nor use autism diagnostic tools with established psychometric properties. In this sample of primarily Latino, Spanish-speaking children, most community evaluators did not document assessment of the child in their native language, nor address the impact of language in their assessments.