1. Bagshaw M. {{Anaesthesia and the autistic child}}. {J Perioper Pract};2011 (Sep);21(9):313-317.
There appears to be little literature in paediatric anaesthetic practice relevant to children suffering with autism (Rainey & Van der Walt 1998). Recent findings suggest a need for rigorous study of the potential problems that autistic children may have when undergoing an anaesthetic (Kirz 2007). Some healthcare professionals do not have the knowledge or professional guidance to be able to identify these children (DH 2001, Disability Rights Commission 2006, DH 2008a, b, 2009, Rankin 2009).
2. Gilgenkrantz S. {{[Autism, the untraceable gene: from science to business]}}. {Med Sci (Paris)};2012 (Mar);28(3):329-330.
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3. Heaton P, Reichenbacher L, Sauter D, Allen R, Scott S, Hill E. {{Measuring the effects of alexithymia on perception of emotional vocalizations in autistic spectrum disorder and typical development}}. {Psychol Med};2012 (Apr 4):1-7.
BACKGROUND: The results from recent studies suggest that alexithymia, a disorder characterized by impairments in understanding personal experiences of emotion, is frequently co-morbid with autism spectrum disorder (ASD). However, the extent that alexithymia is associated with primary deficits in recognizing external emotional cues, characteristic in ASD, has yet to be determined.MethodTwenty high-functioning adults with ASD and 20 age- and intelligence-matched typical controls categorized vocal and verbal expressions of emotion and completed an alexithymia assessment. RESULTS: Emotion recognition scores in the ASD group were significantly poorer than in the control group and performance was influenced by the severity of alexithymia and the psycho-acoustic complexity of the presented stimuli. For controls, the effect of complexity was significantly smaller than for the ASD group, although the association between total emotion recognition scores and alexithymia was still strong. CONCLUSIONS: Higher levels of alexithymia in the ASD group accounted for some, but not all, of the group difference in emotion recognition ability. However, alexithymia was insufficient to explain the different sensitivities of the two groups to the effects of psycho-acoustic complexity on performance. The results showing strong associations between emotion recognition and alexithymia scores in controls suggest a potential explanation for variability in emotion recognition in non-clinical populations.
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4. Jeong JW, Chugani DC, Behen ME, Tiwari VN, Chugani HT. {{Altered White Matter Structure of the Dentatorubrothalamic Pathway in Children with Autistic Spectrum Disorders}}. {Cerebellum};2012 (Apr 3)
Neuropathological studies have demonstrated decreased Purkinje cells in cerebellar cortex and changes in the dentate nucleus of the cerebellum, the projection target for the Purkinje cells, in autistic spectrum disorders (ASD). The dentatorubrothalamic tract is formed by efferents from the dentate nucleus projecting toward the red nucleus with axon collaterals to this nucleus and continuing to innervate the ventral lateral and ventral anterior nuclei of the thalamus. In the current study, we assessed whether the dentatorubrothalamic tract is altered in ASD using Q-ball imaging (QBI). The QBI tractography was performed in 13 children with high functioning ASD (HFA), 11 children with low functioning ASD (LFA), and 14 typically developing children (TD). Regions of interest in dentate nucleus and red nucleus in both hemispheres were objectively placed to sort bilateral dorsal-rostral (DR), dorsal-caudal (DC), ventral-rostral (VR), and ventral-caudal (VC) portions of the dentatorubrothalamic pathway. Group differences in fractional anisotropy (FA), axial diffusivity, radial diffusivity, and fiber volume of individual pathways were analyzed. Significantly reduced FA was found in children with LFA and HFA, compared to the TD group in tracts originating in all four subdivisions of the right dentate nucleus. Tract-based morphometry (TBM) analysis demonstrated significant reductions of FA in caudal midbrain (p < 0.0001), dorsal-caudal dentate (p = 0.0013), and ventral-caudal dentate (p = 0.0061) on the right in the LFA group. The FA values in TBM segments of right VR and VC pathways were significantly correlated with communication skills in the combined HFA/LFA group, while there was a significant correlation found between TBM segments of right DR pathway and daily living skills (r = 0.76; p = 0.004). Decreased white matter integrity in dorsal portions of the dentatorubrothalamic tract may be related to motor features in ASD, while changes in the ventral portions are related more to communication behavior.
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5. Kidd SA, Corbett BA, Granger DA, Boyce WT, Anders TF, Tager IB. {{Daytime Secretion of Salivary Cortisol and Alpha-Amylase in Preschool-Aged Children with Autism and Typically Developing Children}}. {J Autism Dev Disord};2012 (Apr 4)
We examined daytime salivary cortisol and salivary alpha-amylase (sAA) secretion levels and variability in preschool-aged children with autism (AUT) and typically developing children (TYP). Fifty-two subjects (26 AUT and 26 TYP) were enrolled. Salivary samples were obtained at waking, midday, and bedtime on two consecutive days at three phases (baseline, 3 months later, 6 months later). There were modest increases in waking cortisol and sAA levels in AUT relative to TYP, but the increases were not statistically significant. Important differences were observed in cortisol and sAA variability between AUT and TYP. There was also a graded response among AUT by functional status-cortisol and sAA secretion levels were higher when IQ was lower.
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6. Kim HJ, Kim SH, Kim HD, Lee JS, Lee YM, Koo KY, Kang HC. {{Genetic and epileptic features in rett syndrome}}. {Yonsei Med J};2012 (May 1);53(3):495-500.
Purpose: Rett syndrome is a severe neurodevelopmental disorder in females. Most have mutations in the methyl-CpG-binding protein 2 (MECP2) gene (80-90%). Epilepsy is a significant commonly accompanied feature in Rett syndrome. Our study was aimed at comprehensive analysis of genetic and clinical features in Rett syndrome patients, especially in regards to epileptic features. Materials and Methods: We retrospectively reviewed 20 patients who were diagnosed with MECP2 mutations at Severance Children’s Hospital between January 1995 and July 2010. All patients met clinical criteria for Rett syndrome. Evaluations included clinical features, epilepsy classification, electroencephalography analysis, and treatment of seizures. Results: Ages ranged from 3.6 to 14.3 years (7.7+/-2.6). Fourteen different types of MECP2 mutations were found, including a novel in-frame mutation (1153-1188 del36). Fourteen of these patients (70.0%) had epilepsy, and the average age of seizure onset was 3.0+/-1.8 years. Epilepsy was diverse, including partial seizure in four patients (28.5%), secondarily generalized seizure in six (42.8%), generalized tonic seizure in two (14.3%), Lennox-Gastaut syndrome in one (7.1%), and myoclonic status in non-progressive encephalopathy in one (7.1%). Motor functions were delayed so that only 10 patients (50.0%) were able to walk independently: five (35.8%) in the epilepsy group and five (83.3%) in the non-epilepsy group. Average developmental scale was 33.5+/-32.8 in the epilepsy group and 44.4+/-21.2 in the non-epilepsy group. A clear genotype-phenotype correlation was not found. Conclusion: There is a tendency for more serious motor impairment and cognitive deterioration in Rett syndrome patients with epilepsy.
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7. Lubs HA, Stevenson RE, Schwartz CE. {{Fragile x and x-linked intellectual disability: four decades of discovery}}. {Am J Hum Genet};2012 (Apr 6);90(4):579-590.
X-Linked intellectual disability (XLID) accounts for 5%-10% of intellectual disability in males. Over 150 syndromes, the most common of which is the fragile X syndrome, have been described. A large number of families with nonsyndromal XLID, 95 of which have been regionally mapped, have been described as well. Mutations in 102 X-linked genes have been associated with 81 of these XLID syndromes and with 35 of the regionally mapped families with nonsyndromal XLID. Identification of these genes has enabled considerable reclassification and better understanding of the biological basis of XLID. At the same time, it has improved the clinical diagnosis of XLID and allowed for carrier detection and prevention strategies through gamete donation, prenatal diagnosis, and genetic counseling. Progress in delineating XLID has far outpaced the efforts to understand the genetic basis for autosomal intellectual disability. In large measure, this has been because of the relative ease of identifying families with XLID and finding the responsible mutations, as well as the determined and interactive efforts of a small group of researchers worldwide.
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8. Schieve LA, Rice C, Yeargin-Allsopp M, Boyle CA, Kogan MD, Drews C, Devine O. {{Parent-Reported Prevalence of Autism Spectrum Disorders in US-Born Children: An Assessment of Changes within Birth Cohorts from the 2003 to the 2007 National Survey of Children’s Health}}. {Matern Child Health J};2012 (Apr 4)
The prevalence of autism spectrum disorders (ASD) from the 2007 National Survey of Children’s Health (NSCH) was twice the 2003 NSCH estimate for autism. From each NSCH, we selected children born in the US from 1990 to 2000. We estimated autism prevalence within each 1-year birth cohort to hold genetic and non-genetic prenatal factors constant. Prevalence differences across surveys thus reflect survey measurement changes and/or external identification effects. In 2003, parents were asked whether their child was ever diagnosed with autism. In 2007, parents were asked whether their child was ever diagnosed with an ASD and whether s/he currently had an ASD. For the 1997-2000 birth cohorts (children aged 3-6 years in 2003 and 7-10 years in 2007), relative increases between 2003 autism estimates and 2007 ASD estimates were 200-600 %. For the 1990-1996 birth cohorts (children aged 7-13 years in 2003) increases were lower; nonetheless, differences between 2003 estimates and 2007 « ever ASD » estimates were >100 % for 6 cohorts and differences between 2003 estimates and 2007 « current ASD » estimates were >80 % for 3 cohorts. The magnitude of most birth cohort-specific differences suggests continuing diagnosis of children in the community played a sizable role in the 2003-2007 ASD prevalence increase. While some increase was expected for 1997-2000 cohorts, because some children have later diagnoses coinciding with school entry, increases were also observed for children ages >/=7 years in 2003. Given past ASD subtype studies, the 2003 « autism » question might have missed a modest amount (</=33 %) of ASDs other than autistic disorder.
