1. Coskun MA, Varghese L, Reddoch S, Castillo EM, Pearson DA, Loveland KA, Papanicolaou AC, Sheth BR.{{ How somatic cortical maps differ in autistic and typical brains}}. {Neuroreport};2008 (Dec 3)

The comorbidity of ‘core characteristics’ and sensorimotor abnormalities in autism implies abnormalities in brain development of a general and pervasive nature and atypical organization of sensory cortex. By using magnetoencephalography, we examined the cortical response to passive tactile stimulation of the thumb and index finger of the dominant hand and lip of the individuals with autism spectrum disorder and typically developing persons. The distance between the cortical representations of thumb and the lip was significantly larger in the autism group than in typicals. Moreover, in cortex, the thumb is typically closer to the lip than the index finger. This was not observed in persons with autism. Our findings are arguably the first demonstration of abnormality in sensory organization in the brains of persons with autism.

2. Geier DA, Kern JK, Garver CR, Adams JB, Audhya T, Geier MR. A {{Prospective Study of Transsulfuration Biomarkers in Autistic Disorders}}. {Neurochem Res};2008 (Dec 5)

3. Gomarus HK, Wijers AA, Minderaa RB, Althaus M. {{ERP correlates of selective attention and working memory capacities in children with ADHD and/or PDD-NOS}}. {Clin Neurophysiol};2008 (Dec 2)

OBJECTIVE: We examined whether children (8-11 years) diagnosed with Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS) or Attention-Deficit/Hyperactivity Disorder (ADHD) showing primarily hyperactive behavior, differed in selective attention and working memory (WM) abilities. METHODS: Healthy controls and children with ADHD, PDD-NOS or symptoms of both disorders (PDD/HD) (n=15 in each group) carried out a visual selective memory search task while their EEG was recorded from which event-related potentials were derived. RESULTS: Compared to the control group, all patient groups made more omissions while hyperactive children also exhibited more false alarms. Regarding the process of WM-controlled search, significant group differences in ERP data were found between the control group and each of the clinical groups. CONCLUSIONS: The results point to less efficient WM-functioning in all patient groups. Whereas the clinical groups differed from each other at the behavioral level as measured by questionnaires, no distinction between the clinical groups could be made with respect to performance or ERP measures of WM capacity and selective attention. SIGNIFICANCE: The results suggest that a possible differentiation in selectivity and working memory capacities between PDD-NOS and ADHD is hard to find. This may agree with clinical practice, where differential diagnosis is a subject of discussion.

4. James SJ, Melnyk S, Fuchs G, Reid T, Jernigan S, Pavliv O, Hubanks A, Gaylor DW. {{Efficacy of methylcobalamin and folinic acid treatment on glutathione redox status in children with autism}}. {Am J Clin Nutr};2008 (Dec 3)

BACKGROUND: Metabolic abnormalities and targeted treatment trials have been reported for several neurobehavioral disorders but are relatively understudied in autism. OBJECTIVE: The objective of this study was to determine whether or not treatment with the metabolic precursors, methylcobalamin and folinic acid, would improve plasma concentrations of transmethylation/transsulfuration metabolites and glutathione redox status in autistic children. DESIGN: In an open-label trial, 40 autistic children were treated with 75 mug/kg methylcobalamin (2 times/wk) and 400 mug folinic acid (2 times/d) for 3 mo. Metabolites in the transmethylation/transsulfuration pathway were measured before and after treatment and compared with values measured in age-matched control children. RESULTS: The results indicated that pretreatment metabolite concentrations in autistic children were significantly different from values in the control children. The 3-mo intervention resulted in significant increases in cysteine, cysteinylglycine, and glutathione concentrations (P < 0.001). The oxidized disulfide form of glutathione was decreased and the glutathione redox ratio increased after treatment (P < 0.008). Although mean metabolite concentrations were improved significantly after intervention, they remained below those in unaffected control children. CONCLUSIONS: The significant improvements observed in transmethylation metabolites and glutathione redox status after treatment suggest that targeted nutritional intervention with methylcobalamin and folinic acid may be of clinical benefit in some children who have autism. This trial was registered at clinicaltrials.gov as NCT00692315.

5. Kamath BM, Thiel BD, Gai X, Conlin LK, Munoz PS, Glessner J, Clark D, Warthen DM, Shaikh TH, Mihci E, Piccoli DA, Grant SF, Hakonarson H, Krantz ID, Spinner NB. SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation. Hum Mutat;2008 (Dec 4)

The use of array technology to define chromosome deletions and duplications is bringing us closer to establishing a genotype/phenotype map of genomic copy number alterations. We studied 21 patients and five relatives with deletions of the short arm of chromosome 20 using the Illumina HumanHap550 SNP array to: 1) more accurately determine the deletion sizes; 2) identify and compare breakpoints; 3) establish genotype/phenotype correlations; and 4) investigate the use of the HumanHap550 platform for analysis of chromosome deletions. Deletions ranged from 95 kb to 14.62 Mb, and all of the breakpoints were unique. Eleven patients had deletions between 95 kb and 4 Mb and these individuals had normal development, with no anomalies outside of those associated with Alagille syndrome (AGS). The proximal and distal boundaries of these 11 deletions constitute a 5.4-Mb region, and we propose that haploinsufficiency for only 1 of the 12 genes in this region causes phenotypic abnormalities. This defines the JAG1-associated critical region, in which deletions do not confer findings other than those associated with AGS. The other 10 patients had deletions between 3.28 Mb and 14.62 Mb, which extended outside the critical region, and, notably, all of these patients had developmental delay. This group had other findings such as autism, scoliosis, and bifid uvula. We identified 47 additional polymorphic genome-wide copy number variants (>20 SNPs), with 0 to 5 variants called per patient. Deletions of the short arm of chromosome 20 are associated with relatively mild and limited clinical anomalies. The use of SNP arrays provides accurate high-resolution definition of genomic abnormalities. Hum Mutat 0,1-8, 2008. (c) 2008 Wiley-Liss, Inc.

6. Steinlin M. {{Cerebellar Disorders in Childhood: Cognitive Problems}}. {Cerebellum};2008 (Dec 5)

Over the last decade, increasing evidence of cognitive functions of the cerebellum during development and learning processes could be ascertained. Posterior fossa malformations such as cerebellar hypoplasia or Joubert syndrome are known to be related to developmental problems in a marked to moderate extent. More detailed analyses reveal special deficits in attention, processing speed, visuospatial functions, and language. A study about Dandy Walker syndrome states a relationship of abnormalities in vermis lobulation with developmental problems. Further lobulation or volume abnormalities of the cerebellum and/or vermis can be detected in disorders as fragile X syndrome, Downs’s syndrome, William’s syndrome, and autism. Neuropsychological studies reveal a relation of dyslexia and attention deficit disorder with cerebellar functions. These functional studies are supported by structural abnormalities in neuroimaging in these disorders. Acquired cerebellar or vermis atrophy was found in groups of children with developmental problems such as prenatal alcohol exposure or extreme prematurity. Also, focal lesions during childhood or adolescence such as cerebellar tumor or stroke are related with neuropsychological abnormalities, which are most pronounced in visuospatial, language, and memory functions. In addition, cerebellar atrophy was shown to be a bad prognostic factor considering cognitive outcome in children after brain trauma and leukemia. In ataxia teleangiectasia, a neurodegenerative disorder affecting primarily the cerebellar cortex, a reduced verbal intelligence quotient and problems of judgment of duration are a hint of the importance of the cerebellum in cognition. In conclusion, the cerebellum seems to play an important role in many higher cognitive functions, especially in learning. There is a suggestion that the earlier the incorrect influence, the more pronounced the problems.