1. Barnevik Olsson M, Hoglund Carlsson L, Westerlund J, Gillberg C, Fernell E. {{Autism before diagnosis: crying, feeding and sleeping problems in the first two years of life}}. {Acta Paediatr};2013 (Mar 10)
AIM: To chart early registered regulatory problems in a representative group of young children with and without autism spectrum disorder (ASD). METHODS: The target group comprised 208 preschool children with ASD, whose records from the Child Health Centres (CHC) were reviewed regarding numbers of consultations for excessive crying, feeding and sleeping problems. The records from an age- and gender-matched comparison group were obtained from the same CHCs as those of the index children. RESULTS: Significant differences between the ASD and comparison groups were found for each domain studied and when domains were collapsed. Two or more consultations had occurred in 44% of the children in the ASD group and in 16% of the comparison group (p<0,001). No correlations were found with regard to gender, later severity of autism, cognitive level, or degree of hyperactivity. CONCLUSION: Regulatory problems were much more common in children who later received a diagnosis of ASD. Children with many regulatory problems in infancy require attention from CHC and paediatric services, and need to be followed with regard to development and family support. (c)2013 The Author(s)/Acta Paediatrica (c)2013 Foundation Acta Paediatrica.
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2. Bianciardi G, Acampa M, Lamberti I, Sartini S, Servi M, Biagi F, Bocchi V, Hayek J, Pastorelli M. {{Microvascular abnormalities in Rett syndrome}}. {Clin Hemorheol Microcirc};2013 (Mar 12)
Rett syndrome (RTT) is a post-natal neurological disorder that represents the second most common cause for mental retardation. The presence of cold hands and feet, and blue, a feature frequently observed in these patients, is one of the non-neurological phenotypes that characterizes RTT, up to now not well explained. We have performed videocapillaroscopy in subjects affected by Rett syndrome. We have observed ramified and bushy capillaries, characteristic features of neoangiogenic capillaries, dilated capillaries and an irregular and chaotic microvascular pattern. To quantify these features and to evaluate the microvascular pattern complexity, we have performed a fractal analysis. Fractal dimension and Lempel-Ziv indexes resulted higher in Rett females than in age-matched healthy females (p < 0.001; p < 0.001). Our findings indicate the presence of previously unrecognized microvascular abnormalities in Rett syndrome.
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3. Brynska A. {{[Seeking the aetiology of autistic spectrum disorder. Part 2: Functional neuroimaging]}}. {Psychiatr Pol};2012 (Nov-Dec);46(6):1061-1071.
Multiple functional imaging techniques help to a better understanding of the neurobiological basis of autism-spectrum disorders (ASD). The early functional imaging studies on ASD focused on task-specific methods related to core symptom domains and explored patterns of activation in response to face processing, theory of mind tasks, language processing and executive function tasks. On the other hand, fMRI research in ASD focused on the development of functional connectivity methods and has provided evidence of alterations in cortical connectivity in ASD and establish autism as a disorder of under-connectivity among the brain regions participating in cortical networks. This atypical functional connectivity in ASD results in inefficiency and poor integration of processing in network connections to achieve task performance. The goal of this review is to summarise the actual neuroimaging functional data and examine their implication for understanding of the neurobiology of ASD.
4. Brynska A. {{[Seeking the aetiology of autistic spectrum disorder. Part 1: Structural neuroimaging]}}. {Psychiatr Pol};2012 (Nov-Dec);46(6):1053-1060.
Although the aetiology of autistic-spectrum disorder (ASD) remains unclear, great advances have been made to clarify the underlying neuroanatomical abnormalities and brain-behaviour relationships in autism. There is variability in the literature on structural neuroimaging findings in ASD. Early brain overgrowth is probably the most replicated finding in this subgroup. Additionally some specific brain regions are particularly implicated, including the frontal, limbic, basal ganglia and cerebellar regions. There is also evidence of volume abnormalities in both grey and white matter. New techniques, such as cortical-thickness measurements, surface morphometry and diffusion tensor imaging help to understand in more detail the patterns of abnormalities. More work is required, involving the use of large and homogeneous samples, to investigate the neuroanatomical determinants and their role in aetiology of ASD. The goal of this review is to summarise the available structural neuroimaging data and examine their implication for understanding of the neurobiology of ASD.
5. Gerber F, Carminati GG. {{The Psychiatric Assessment Schedule for Adult with Developmental Disability (PAS-ADD) Checklist: reliability and validity of French version}}. {J Intellect Disabil Res};2013 (Mar 11)
BACKGROUND: The lack of psychometric measures of psychopathology especially in intellectual disabilities (ID) population was addressed by creation of the Psychiatric Assessment Schedule for Adult with Developmental Disability (PAS-ADD-10) in Moss et al. This schedule is a structured interview designed for professionals in psychopathology. The PAS-ADD Checklist was created as a screening tool designed for non-specialists in mental illness, such as families and care staff. The Checklist includes 29 symptoms items graded on a four-point scale. When the score passes the threshold, this indicates the need for further psychiatric assessment. In a study by Moss et al. and a replication by Sturmey et al., the PAS-ADD Checklist was validated and proved reliable as a screening tool for psychiatric disorders in a population of adults with ID. In this study, the French translation of the Checklist is compared with the English version and the psychometric properties are presented for outpatients. METHOD: The French version was created by translation and back translation. Acceptability, internal consistency, inter-rater reliability, factorial analysis and sensitivity/specificity were calculated. RESULTS: Reliability analyses for sub-scales and threshold scales showed good (Cronbach’s alpha coefficient greater than 0.7) to acceptable (alpha over 0.6) internal consistency. Cronbach’s alpha was over 0.8 when the total scale was considered. Spearman Rank correlations, calculated for 45 pairs of raters on threshold scores, are above 0.66, which is a good sign of accordance between non-specialist raters. Sensitivity and specificity were computed for the number of participants who did and did not cross threshold and for whom a psychiatric disorder was or was not present. The sensitivity was 55% and specificity was 70%. The confirmatory factor analysis with a three-factor solution explained only 46.1%, which suggests a mediocre fit of the data to the model. Even if items have good saturation on each factor, it does not fit with the theoretical model. CONCLUSIONS: The validity of the French version in this sample seems to be acceptable. Specificity was higher than those reported in the English version and sensitivity was lower. The French version was less successful in screening than English version, probably because of the low number of false negatives in this sample, which constitutes recruitment bias in a psychiatric sample. Nevertheless, the French version of the PAS-ADD Checklist is reliable as a general screening tool for psychiatric disorders.
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6. Schwartzer JJ, Careaga M, Onore CE, Rushakoff JA, Berman RF, Ashwood P. {{Maternal immune activation and strain specific interactions in the development of autism-like behaviors in mice}}. {Transl Psychiatry};2013;3:e240.
It is becoming increasingly apparent that the causes of autism spectrum disorders (ASD) are due to both genetic and environmental factors. Animal studies provide important translational models for elucidating specific genetic or environmental factors that contribute to ASD-related behavioral deficits. For example, mouse research has demonstrated a link between maternal immune activation and the expression of ASD-like behaviors. Although these studies have provided insights into the potential causes of ASD, they are limited in their ability to model the important interactions between genetic variability and environmental insults. This is of particular concern given the broad spectrum of severity observed in the human population, suggesting that subpopulations may be more susceptible to the adverse effects of particular environmental insults. It is hypothesized that the severity of effects of maternal immune activation on ASD-like phenotypes is influenced by the genetic background in mice. To test this, pregnant dams of two inbred strains (that is, C57BL/6J and BTBR Ttf/J) were exposed to the viral mimic polyinosinic-polycytidylic acid (polyI:C), and their offspring were tested for the presence and severity of ASD-like behaviors. To identify differences in immune system regulation, spleens were processed and measured for alterations in induced cytokine responses. Strain-treatment interactions were observed in social approach, ultrasonic vocalization, repetitive grooming and marble burying behaviors. Interestingly, persistent dysregulation of adaptive immune system function was only observed in BTBR mice. Data suggest that behavioral and immunological effects of maternal immune activation are strain-dependent in mice.
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7. Tachibana M, Kagitani-Shimono K, Mohri I, Yamamoto T, Sanefuji W, Nakamura A, Oishi M, Kimura T, Onaka T, Ozono K, Taniike M. {{Long-Term Administration of Intranasal Oxytocin Is a Safe and Promising Therapy for Early Adolescent Boys with Autism Spectrum Disorders}}. {J Child Adolesc Psychopharmacol};2013 (Mar 12)
Abstract Objective: Oxytocin (OT) has been a candidate for the treatment of autism spectrum disorders (ASD), and the impact of intranasally delivered OT on ASD has been investigated. However, most previous studies were conducted by single-dose administration to adults; and, therefore, the long-term effect of nasal OT on ASD patients and its effect on children remain to be clarified. Methods: We conducted a singled-armed, open-label study in which OT was administered intranasally over the long term to eight male youth with ASD (10-14 years of age; intelligence quotient [IQ] 20-101). The OT administration was performed in a stepwise increased dosage manner every 2 months (8, 16, 24 IU/dose). A placebo period (1-2 weeks) was inserted before each step. The outcome measures were Autism Diagnostic Observation Schedule – Generic (ADOS-G), Child Behavior Checklist (CBCL), and the Aberrant Behavior Checklist (ABC). In addition, side effects were monitored by measuring blood pressure and examining urine and blood samples. Results: Six of the eight participants showed improved scores on the communication and social interaction domains of the ADOS-G. However, regarding the T-scores of the CBCL and the scores of the ABC, we could not find any statistically significant improvement, although several subcategories showed a mild tendency for improvement. Caregivers of five of the eight participants reported certain positive effects of the OT therapy, especially on the quality of reciprocal communication. All participants showed excellent compliance and no side effects. Conclusions: Although our results on the efficacy of long-term nasal OT therapy still remain controversial, to the best of our knowledge, this is the first report documenting the safety of long-term nasal OT therapy for children with ASD. Even though our data are too preliminary to draw any definite conclusions about efficacy, they do suggest this therapy to be safe, promising, and worthy of a large-scale, double-blind placebo-controlled study.
