1. Bedford R, Elsabbagh M, Gliga T, Pickles A, Senju A, Charman T, Johnson MH, the Bt. {{Precursors to Social and Communication Difficulties in Infants At-Risk for Autism: Gaze Following and Attentional Engagement}}. {J Autism Dev Disord}. 2012 Jan 26.
Whilst joint attention (JA) impairments in autism have been widely studied, little is known about the early development of gaze following, a precursor to establishing JA. We employed eye-tracking to record gaze following longitudinally in infants with and without a family history of autism spectrum disorder (ASD) at 7 and 13 months. No group difference was found between at-risk and low-risk infants in gaze following behaviour at either age. However, despite following gaze successfully at 13 months, at-risk infants with later emerging socio-communication difficulties (both those with ASD and atypical development at 36 months of age) allocated less attention to the congruent object compared to typically developing at-risk siblings and low-risk controls. The findings suggest that the subtle emergence of difficulties in JA in infancy may be related to ASD and other atypical outcomes.
Lien vers le texte intégral (Open Access ou abonnement)
2. Kornhuber J. {{[Autism spectrum disorders]}}. {Fortschritte der Neurologie-Psychiatrie}. 2012 Feb;80(2):71.
Lien vers le texte intégral (Open Access ou abonnement)
3. Kylliainen A, Wallace S, Coutanche MN, Leppanen JM, Cusack J, Bailey AJ, Hietanen JK. {{Affective-motivational brain responses to direct gaze in children with autism spectrum disorder}}. {J Child Psychol Psychiatry}. 2012 Jan 25.
Background: It is unclear why children with autism spectrum disorders (ASD) tend to be inattentive to, or even avoid eye contact. The goal of this study was to investigate affective-motivational brain responses to direct gaze in children with ASD. To this end, we combined two measurements: skin conductance responses (SCR), a robust arousal measure, and asymmetry in frontal electroencephalography (EEG) activity which is associated with motivational approach and avoidance tendencies. We also explored whether degree of eye openness and face familiarity modulated these responses. Methods: Skin conductance responses and frontal EEG activity were recorded from 14 children with ASD and 15 typically developing children whilst they looked at familiar and unfamiliar faces with eyes shut, normally open or wide-open. Stimuli were presented in such a way that they appeared to be looming towards the children. Results: In typically developing children, there were no significant differences in SCRs between the different eye conditions, whereas in the ASD group the SCRs were attenuated to faces with closed eyes and increased as a function of the degree of eye openness. In both groups, familiar faces elicited marginally greater SCRs than unfamiliar faces. In typically developing children, normally open eyes elicited greater relative left-sided frontal EEG activity (associated with motivational approach) than shut eyes and wide-open eyes. In the ASD group, there were no significant differences between the gaze conditions in frontal EEG activity. Conclusions: Collectively, the results replicate previous finding in showing atypical modulation of arousal in response to direct gaze in children with ASD but do not support the assumption that this response is associated with an avoidant motivational tendency. Instead, children with ASD may lack normative approach-related motivational response to eye contact.
Lien vers le texte intégral (Open Access ou abonnement)
4. Parner ET, Baron-Cohen S, Lauritsen MB, Jorgensen M, Schieve LA, Yeargin-Allsopp M, Obel C. {{Parental Age and Autism Spectrum Disorders}}. {Annals of epidemiology}. 2012 Jan 24.
PURPOSE: We sought to study the possible association between parental age and autism spectrum disorder (ASD) by using both a cohort design and a sibling design. METHODS: Our cohort included all singleton births in Denmark from January 1, 1980, through December 31, 2003, a total of 1,311,736 children. Cases of ASDs were obtained from the Danish National Psychiatric Register using International Classification of Diseases (ICD)-8 and ICD-10. RESULTS: A total of 9556 children were diagnosed with an ASD. Both maternal and paternal age were associated with a greater risk of ASD in the offspring (hazard ratios ranging from 1.21 (1.10-1.34) to 1.65 (1.09-2.48) depending on combinations of parental age categories; <35, 35-39, and 40+ years). For mothers younger than 35 years, the risk of ASD increased with increasing father’s age group. For fathers younger than 35 years, the risk of ASD increased with increasing maternal age. CONCLUSIONS: We found an association between parental age and ASD in the cohort study, but the combined underlying mechanisms through which paternal and maternal age impact ASD risk do not seem to act synergistically. The results of the sibling analysis suggest that the association between parental age and ASD found in the cohort study cannot be accounted for by common genetic and environmental factors.
Lien vers le texte intégral (Open Access ou abonnement)
5. Peng W. {{Cardiac symptoms of Rett syndrome}}. {Nature genetics}. 2012;44(2):120.
Lien vers le texte intégral (Open Access ou abonnement)
6. Sauer C, Montag C, Worner C, Kirsch P, Reuter M. {{Effects of a Common Variant in the CD38 Gene on Social Processing in an Oxytocin Challenge Study: Possible Links to Autism}}. {Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology}. 2012 Jan 25.
The intranasal application of oxytocin (OT) has been shown to influence behavioral and neural correlates of social processing. These effects are probably mediated by genetic variations within the OT system. One potential candidate could be the CD38 gene, which codes for a transmembrane protein engaged in OT secretion processes. A common variation in this gene (rs3796863) was recently found to be associated with autism spectrum disorders (ASD). Using an imaging genetics approach, we studied differential effects of an intranasal OT application on neural processing of social stimuli in 55 healthy young men depending on their CD38 gene variant in a double-blind placebo-controlled crossover design. Genotype had a significant influence on both behavioral and neuronal measures of social processing. Homozygotic risk allele carriers showed slower reaction times (RT) and higher activation of left fusiform gyrus during visual processing of social stimuli. Under OT activation differences between genotypes were more evident (though not statistically significantly increased) and RT were accelerated in homozygotic risk allele carriers. According to our data, rs3796863 mainly influences fusiform gyrus activation, an area which has been widely discussed in ASD research. OT seems to modulate this effect by enhancing activation differences between allele groups, which suggests an interaction between genetic makeup and OT availability on fusiform gyrus activation. These results support recent approaches to apply OT as a pharmacological treatment of ASD symptoms.Neuropsychopharmacology advance online publication, 25 January 2012; doi:10.1038/npp.2011.333.
Lien vers le texte intégral (Open Access ou abonnement)
7. Senova S, Jarraya B, Iwamuro H, Tani N, Ouerchefani N, Lepetit H, Gurruchaga JM, Brugieres P, Apartis E, de Broucker T, Palfi S. {{Unilateral thalamic stimulation safely improved fragile X-associated tremor ataxia: A case report}}. {Movement disorders : official journal of the Movement Disorder Society}. 2012 Jan 27.
Lien vers le texte intégral (Open Access ou abonnement)
8. Waldman HB, Perlman SP. {{Ensuring oral health for older individuals with intellectual and developmental disabilities}}. {Journal of clinical nursing}. 2012 Jan 27.
Aims and objectives. To emphasise the oral health needs of older individuals with intellectual and developmental disabilities, the impact on the individual’s general health and the role that can be played by nurses. Background. All too often an examination and consideration of the oral health condition of this patient population by nurses/physicians is cursory at best. The increasing retention of the dentition into later years of life provides both the favourable abilities for eating, speech and self esteem, but also the potential for local and general health concerns. Design. Discursive paper. Method. Based on the findings from dental examination of thousands of international athletes in the Special Olympic Games and clinical experiences in academic and private practice settings for care of individuals with intellectual and developmental disabilities, a discursive listing was developed for use in a preliminary examination of the oral cavity. Conclusion. A nurse can play a critical role in the examination, preventive services and referrals for dental care for older individuals with intellectual and developmental disabilities. Relevance to clinical practice. The specific oral health needs of older individuals with intellectual and developmental disabilities should be an integral component of the preventive and general health care provided by nurses.
Lien vers le texte intégral (Open Access ou abonnement)
9. Zvereff V, Carpenter L, Patton D, Cabral H, Rita D, Wilson A, Anyane-Yeboa K, White L, Friedman KJ. {{Molecular diagnostic dilemmas in Rett syndrome}}. {Brain & development}. 2012 Jan 23.
Rett syndrome (OMIM 312750) is a progressive, X-linked neurodevelopmental disorder caused by mutations in the MECP2 gene located on chromosome Xq28. The disorder is characterized by a period of normal development during the first 6-18months of life, followed by gradual loss of skills already gained, such as speech and purposeful movement of the hands. The majority of cases are sporadic and represent « de novo » mutations. In this study we summarize the results of diagnostic testing of 30 patients with Rett syndrome (RTT) or mental retardation of unknown etiology using bidirectional sequencing of the open reading frame of the MECP2 gene. Twenty different variants were identified in those patients including 12 missense (R133C, P152R, T158M, V300I, I303M, R306C, T311M, R344W, A358T, P384L, A443T, V481M), four nonsense (R168X, K192X, R255X, R270X), two deletion (E137_L386del, I293_S350del), and two frameshift (S291QfsX26, G343AfsX6) mutations. Seven of the twenty variants identified were novel mutations (E137_L386del, K192X, S291QfsX26, G343AfsX6, I293_S350del, P384L, and A443T). In the cases with novel or non-recurrent missense mutations, family studies were performed to investigate genotype-phenotype correlations. Our results demonstrate the importance of family studies and highlight the complexity of interpretation of MECP2 alterations, which may or may not be disease-associated.
