1. Begeer S, Banerjee R, Rieffe C, Terwogt MM, Potharst E, Stegge H, Koot HM. {{The understanding and self-reported use of emotional display rules in children with autism spectrum disorders}}. {Cogn Emot};2011 (Aug);25(5):947-956.
Two studies examined the understanding and self-reported use of rules for the expressive display of emotions in children with high functioning autism spectrum disorders (HFASD) and in typically developing children. In Study 1, children from the two groups reported display rules equally often when presented with hypothetical situations that provided clear motives for using display rules, although emotion-masking displays were more commonly identified for vignettes with prosocial rather than self-protective motives. In Study 2, children were interviewed about display rule use in real life. Children with HFASD reported display rules less often, included more prototypical examples, and referred less often to prosocial motives than typically developing children. Children with HFASD appear to be aware of display rules, but are less adept at identifying the interpersonal functions of such rules than their typically developing peers.
Lien vers le texte intégral (Open Access ou abonnement)
2. Hattier MA, Matson JL, Tureck K, Horovitz M. {{The effects of gender and age on repetitive and/or restricted behaviors and interests in adults with autism spectrum disorders and intellectual disability}}. {Res Dev Disabil};2011 (Aug 6)
Frequency of repetitive and/or restricted behaviors and interests (RRBIs) was assessed in 140 adults with autism spectrum disorders (ASDs) and severe or profound intellectual disability (ID). The associations of gender and age range were analyzed with RRBI frequency which was obtained using the Stereotypies subscale of the Diagnostic Assessment for the Severely Handicapped-II (DASH-II). A significant main effect of gender was found. Male participants had higher frequency of RRBIs than females regardless of age range. There was not a significant main effect of age range or a significant interaction between gender and age range. Results and implications are discussed.
Lien vers le texte intégral (Open Access ou abonnement)
3. Kannikeswaran N, Chen X, Sethuraman U. {{Utility of endtidal carbon dioxide monitoring in detection of hypoxia during sedation for brain magnetic resonance imaging in children with developmental disabilities}}. {Paediatr Anaesth};2011 (Aug 9)
Background: We have shown previously that children with developmental disabilities have three times higher incidence of sedation-related hypoxia when compared with normal children. Objectives: Our objectives were to describe the changes in endtidal carbon dioxide (ETCO(2) ) values and the utility of ETCO(2) monitoring in earlier identification of hypoxia during sedation for brain magnetic resonance imaging (MRI) in children with developmental disabilities. Methods: We conducted a prospective observational study of a convenience sample of 150 children with developmental disabilities aged 1-10 years who received intravenous sedation for brain MRI. Children were sedated and monitored according to the institution’s sedation protocol. We recorded ETCO(2) levels, hypoxia, and adverse events during sedation. Hypoxia was defined as SpO(2) < 93%. A change in ETCO(2) level >/= 10 mm Hg from presedation baseline, an intra-sedation >/= 50 mm Hg, and loss of capnographic waveform were considered as significant ETCO(2) abnormalities. Results: Of the children, 80.7% (121/150) were sedated with a combination of pentobarbital and fentanyl. ETCO(2) abnormalities were noted in 42.6% (64/150) of sedation encounters. Hypoxia occurred in 18% (27/150) of subjects. ETCO(2) abnormalities were documented in 19(70%) patients with hypoxia before changes in pulse oximetry were noted. ETCO(2) changes were noted a mean of 4.38 +/- 1.89 min prior to occurrence of hypoxia. Conclusions: ETCO(2) abnormalities and hypoxia occur commonly during sedation in children with developmental disabilities. ETCO(2) monitoring is useful in early recognition of impending hypoxia during sedation in children with developmental disabilities.
Lien vers le texte intégral (Open Access ou abonnement)
4. Leblanc JJ, Fagiolini M. {{Autism: a « critical period » disorder?}}. {Neural Plast};2011;2011:921680.
Cortical circuits in the brain are refined by experience during critical periods early in postnatal life. Critical periods are regulated by the balance of excitatory and inhibitory (E/I) neurotransmission in the brain during development. There is now increasing evidence of E/I imbalance in autism, a complex genetic neurodevelopmental disorder diagnosed by abnormal socialization, impaired communication, and repetitive behaviors or restricted interests. The underlying cause is still largely unknown and there is no fully effective treatment or cure. We propose that alteration of the expression and/or timing of critical period circuit refinement in primary sensory brain areas may significantly contribute to autistic phenotypes, including cognitive and behavioral impairments. Dissection of the cellular and molecular mechanisms governing well-established critical periods represents a powerful tool to identify new potential therapeutic targets to restore normal plasticity and function in affected neuronal circuits.
Lien vers le texte intégral (Open Access ou abonnement)
5. McConkie-Rosell A, Heise EM, Spiridigliozzi GA. {{Influence of Genetic Risk Information on Parental Role Identity in Adolescent Girls and Young Women from Families with Fragile X Syndrome}}. {J Genet Couns};2011 (Aug 9)
Using a multi-group cross-sectional design, we explored self-concept related to parental role salience and enactment in 53 young women (14 to 24 years) with knowledge they were either carriers, non-carriers, or could be a carrier of fragile X syndrome (FXS). Parental role salience included the participants’ desire « to be a mother » and the importance they placed on this role. Enactment focused on the participants’ views regarding ways to become a mother (reproductive options), parenting a child affected by FXS, and the development of partner relationships (marriage). Participants completed the FXS Adolescent Interview and the FX-Visual Analog Scale. Participants’ knowledge of their genetic risk status appears to have influenced both salience and enactment of the parental role, and the effect varied based on carrier status. For many, knowledge of genetic risk appears to have led to reappraisal, redefinition, and re-engagement with the goal of becoming a parent. This process was prominent in those who were carriers and less so in those who were at-risk, and it did not typically occur in those who were non-carriers. Findings offer valuable insight into the impact of genetic risk information on developing perceptions of the parental role and offer new directions for genetic counseling with adolescents and young women with a family history of FXS.
Lien vers le texte intégral (Open Access ou abonnement)
6. Miyake K, Hirasawa T, Soutome M, Itoh M, Goto YI, Endoh K, Takahashi K, Kudo S, Nakagawa T, Yokoi S, Taira T, Inazawa J, Kubota T. {{The protocadherins, PCDHB1 and PCDH7, are regulated by MeCP2 in neuronal cells and brain tissues: Implication for the pathogenesis of Rett syndrome}}. {BMC Neurosci};2011 (Aug 8);12(1):81.
ABSTRACT: BACKGROUND: Rett syndrome is a neurodevelopmental and autistic disease caused by mutations of Methyl-CpG-binding protein 2 (MECP2) gene. MeCP2 protein is mainly expressed in neurons and binds to methylated gene promoters to suppress their expression, indicating that Rett syndrome is caused by the deregulation of target genes in neurons. However, it is likely that there are more unidentified neuronal MeCP2-targets associated with the neurological features of RTT. RESULTS: Using a genome-microarray approach, we found 22 genomic regions that contain sites potentially regulated by MeCP2 based on the features of MeCP2 binding, DNA methylation, and repressive histone modification in human cell lines. Within these regions, Chromatin immunoprecipitation (ChIP) analysis revealed that MeCP2 binds to the upstream regions of the protocadherin genes PCDHB1 and PCDH7 in human neuroblastoma SH-SY5Y cells. PCDHB1 and PCDH7 promoter activities were down-regulated by MeCP2, but not by MBD-deleted MeCP2. These gene expression were up-regulated following MeCP2 reduction with siRNA in SH-SY5Y cells and in the brains of Mecp2-null mice. Furthermore, PCDHB1 was up-regulated in postmortem brains from Rett syndrome patients. CONCLUSIONS: We identified MeCP2 target genes that encode neuronal adhesion molecules using ChIP-on-BAC array approach. Since these protocadherin genes are generally essential for brain development, aberrant regulation of these molecules may contribute to the pathogenesis of the neurological features observed in Rett syndrome.
Lien vers le texte intégral (Open Access ou abonnement)
7. Pasini A, D’Agati E, Pitzianti M, Casarelli L, Curatolo P. {{Motor examination in children with Attention-Deficit/Hyperactivity Disorder and Asperger Syndrome}}. {Acta Paediatr};2011 (Aug 8)
Aim: Evaluating if motor skills could differentiate drug-naive subjects with two neurodevelopmental disorders: Attention-deficit hyperactivity disorder and Asperger syndrome. Methods: 36 boys (12 with Attention-deficit hyperactivity disorder, 12 with Asperger syndrome, and 12 with typical development) aged 8-12, were evaluated using the Physical and Neurological Examination for Subtle Signs. Three primary outcome variables were obtained: 1) total speed of timed activities, 2) total overflow, and 3) total dysrhythmia. Results: Children with Asperger syndrome performed more slowly than those with Attention-deficit hyperactivity disorder and healthy children independently of age and IQ. Total dysrhythmia differentiates Attention-deficit hyperactivity disorder and Asperger syndrome children from controls. Conclusion: Dysfunction of the fronto-striatal-cerebellar networks related to motor control could be the physiopathological basis of the reported findings.
Lien vers le texte intégral (Open Access ou abonnement)
8. Percy AK. {{Rett syndrome: exploring the autism link}}. {Arch Neurol};2011 (Aug);68(8):985-989.
The presence of autism in individuals with neurodevelopmental disorders, whether transient as in Rett syndrome (RTT) or enduring as in fragile X syndrome or Down syndrome, suggests the possibility of common neurobiologic mechanisms whose elucidation could fundamentally advance our understanding. This review explores the commonalities and differences between autism and RTT at clinical and molecular levels with respect to current status and challenges for each, highlights recent findings from the Rare Disease Network Natural History study on RTT, and summarizes the broad range of phenotypes resulting from mutations in the methyl-CpG-binding protein 2 gene (MECP2), which is responsible for RTT in 95% of individuals with the disorder. For RTT, animal models have been critical resources for advancing pathobiologic discovery and promise to be important test beds for evaluating new therapies. Fundamental understanding of autism based on unique genetic mechanism(s) must await similar advances.
Lien vers le texte intégral (Open Access ou abonnement)
9. Turk J. {{Fragile X syndrome: lifespan developmental implications for those without as well as with intellectual disability}}. {Curr Opin Psychiatry};2011 (Sep);24(5):387-397.
PURPOSE OF REVIEW: Advances in developmental neuropsychiatry and the mental health needs of people with intellectual disability are creating ever greater understanding of the critical associations between human genome variations and psychological functioning throughout lifespan and across the entire intellectual ability spectrum. This review highlights the recent developments and their clinical implications for people with fragile X syndrome. RECENT FINDINGS: There is substantial evidence for individuals of all ages and intellectual abilities being prone to psychological profiles determined not only by having a fragile X gene full mutation, but also by having premutations and intermediate alleles. The importance of these genetic contributors to mental life, if anything, increases with age. Premutation carriers are prone to neurodegenerative mid-life fragile X tremor-ataxia syndrome. Women with premutations experience premature ovarian insufficiency. Imbalances in the (gamma amino butyrie acid)-glutamate mediated postsynaptic cascade central neuronal pathways are a current focus of psychopharmacological enquiry, giving the hope of syndrome-specific medical treatments. SUMMARY: Findings from genetic, neurological, biochemical, psychological and pharmacological research are combining to revolutionize understanding of the pathogenesis of developmental and psychological disabilities affecting individuals with fragile X syndrome irrespective of age, intelligence level and gene mutation status. Results of syndrome-specific medication trials are awaited.
Lien vers le texte intégral (Open Access ou abonnement)
10. Wink LK, Erickson CA, Stigler KA, McDougle CJ. {{Riluzole in Autistic Disorder}}. {J Child Adolesc Psychopharmacol};2011 (Aug 8)
