Systematic Intervention for Children with Autism Spectrum Disorder and Integration in Regular School Classes: A Naturalistic Study.

Objective of the present study was the assessment of the effect of a systematic community intervention offered at an early age to 32 children with autism spectrum disorder (ASD), 2 to 5 year after completion of treatment while attending public school classes. The intervention had been offered at a community Day Centre and lasted 3 years. On assessment all children showed clinical improvement and significant results on (CARS) and and 13 scored below criteria for autism on (ADOS-2).

Psychological distress and health-related quality of life in parents of children referred to an outpatient service for children with developmental disorders.

Objectives: The current study's aim was to measure anxiety, depression and quality of life in parents of children referred for developmental evaluation.

Methods: The Hospital Anxiety and Depression Scale and the Short Form 36 Health Survey were used to assess anxiety, depression and quality of life, respectively.

Results: One hundred and thirty parents participated in the study, 95 with a child referred for evaluation and 35 with healthy children.

The Day Centre for Children with Developmental Disorders in Messolonghi, Greece.

This paper describes the challenges in starting a service for the diagnosis of and intensive therapeutic intervention for children with autism in a provincial town in western Greece (Messolonghi). Personnel had to be trained, the community had to be educated to accept and use the new service, and stigma had to be dealt with. Currently, fully developed 10 years after the beginning of the effort, in any one week the Day Centre serves on average 35 children with autism and 20 children with specific language impairment.

[Early diagnosis of autism: Phenotype-endophenotype].

Autism Spectrum Disorders have for some time been the focus of intense interest for clinicians and researchers because of the high prevalence of the disorders among children in the community (approximately 1%), their severity and pervasiveness. Particular attention has been paid to the early diagnosis of the disorder and to the intensive therapeutic intervention. Currently the best prognosis for autism lays in the early diagnosis and intervention.

Clinical relevance of KRAS-mutated subclones detected with picodroplet digital PCR in advanced colorectal cancer treated with anti-EGFR therapy.

Purpose: KRAS mutations are predictive of nonresponse to anti-EGFR therapies in metastatic colorectal cancer (mCRC). However, only 50% of nonmutated patients benefit from them. KRAS-mutated subclonal populations nondetectable by conventional methods have been suggested as the cause of early progression.

Multiplex picodroplet digital PCR to detect KRAS mutations in circulating DNA from the plasma of colorectal cancer patients.

Background: Multiplex digital PCR (dPCR) enables noninvasive and sensitive detection of circulating tumor DNA with performance unachievable by current molecular-detection approaches. Furthermore, picodroplet dPCR facilitates simultaneous screening for multiple mutations from the same sample.

Methods: We investigated the utility of multiplex dPCR to screen for the 7 most common mutations in codons 12 and 13 of the KRAS (Kirsten rat sarcoma viral oncogene homolog) oncogene from plasma samples of patients with metastatic colorectal cancer.

BEAMing and Droplet Digital PCR Analysis of Mutant IDH1 mRNA in Glioma Patient Serum and Cerebrospinal Fluid Extracellular Vesicles.

Development of biofluid-based molecular diagnostic tests for cancer is an important step towards tumor characterization and real-time monitoring in a minimally invasive fashion. Extracellular vesicles (EVs) are released from tumor cells into body fluids and can provide a powerful platform for tumor biomarkers because they carry tumor proteins and nucleic acids. Detecting rare point mutations in the background of wild-type sequences in biofluids such as blood and cerebrospinal fluid (CSF) remains a major challenge.

Detection of low prevalence somatic mutations in solid tumors with ultra-deep targeted sequencing.

Ultra-deep targeted sequencing (UDT-Seq) can identify subclonal somatic mutations in tumor samples. Early assays' limited breadth and depth restrict their clinical utility. Here, we target 71 kb of mutational hotspots in 42 cancer genes.

Application of microdroplet PCR for large-scale targeted bisulfite sequencing.

Cytosine methylation of DNA CpG dinucleotides in gene promoters is an epigenetic modification that regulates gene transcription. While many methods exist to interrogate methylation states, few current methods offer large-scale, targeted, single CpG resolution. We report an approach combining bisulfite treatment followed by microdroplet PCR with next-generation sequencing to assay the methylation state of 50 genes in the regions 1 kb upstream of and downstream from their transcription start sites.

Pipeline for large-scale microdroplet bisulfite PCR-based sequencing allows the tracking of hepitype evolution in tumors.

Cytosine methylation provides an epigenetic level of cellular plasticity that is important for development, differentiation and cancerogenesis. We adopted microdroplet PCR to bisulfite treated target DNA in combination with second generation sequencing to simultaneously assess DNA sequence and methylation. We show measurement of methylation status in a wide range of target sequences (total 34 kb) with an average coverage of 95% (median 100%) and good correlation to the opposite strand (rho = 0.

Multiplex digital PCR: breaking the one target per color barrier of quantitative PCR.

Quantitative polymerase chain reactions (qPCR) based on real-time PCR constitute a powerful and sensitive method for the analysis of nucleic acids. However, in qPCR, the ability to multiplex targets using differently colored fluorescent probes is typically limited to 4-fold by the spectral overlap of the fluorophores. Furthermore, multiplexing qPCR assays requires expensive instrumentation and most often lengthy assay development cycles.

[The neurobiology of autism].

The research effort on autism has for several years been intensive. Recent progress in this field is due mainly to the development of increasingly sophisticated visualizing assessment methods of the brain. Most of the evidence reported in this review requires further replication and elaboration by ongoing research.

The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women.

Fabry disease is a rare X-linked lysosomal storage disorder caused by deficient activity of alpha-galactosidase A (alpha-Gal A) resulting in the storage of glycosphingolipids, especially globotriaosylceramide (Gb3), in cells throughout the body, causing life-threatening renal, cardiac, and cerebrovascular complications in hemizygous males and some heterozygous females. Disease manifestations in heterozygotes are being recognized increasingly, but quantitative prospective data on their extent and severity are limited. Prospective clinical and laboratory assessments were performed in a 7-day study of 61 women with signs and symptoms of Fabry disease.

Psychosocial adaptation of immigrant Greek children from the former Soviet Union.

Background: The objective of this study was to assess psychiatric disorders in, and the psychosocial adaptation and academic performance of, children of immigrant families of Greek origin from countries of the former Soviet Union.

Method: At a preliminary stage, all immigrant children (276) aged 8-12 years attending 22 schools in a working-class suburb of Athens were assessed by their teachers in terms of behaviour and academic performance. They and their families had migrated to Greece within the previous three years.

Intrusion and internalisation of the devil: popular saints vs. the Fathers of the Church.

In early Christianity, and in the domain of Byzantium in particular, the devil's interference with man took two distinct forms which may be identified as "intrusion" and "internalisation". The intruding form of the devil was presented in the hagiographies of popular saints, while the internalisation form was presented and elaborated upon by the Fathers of the Church. Intrusion was the most striking and characteristic demonic interference with man.

Uncertainties in aetiology and treatment of infantile autism--assumptions and evidence.

Uncertainty in the field of child psychiatry may at times lead to groundless assumptions about the aetiology and pathology of psychiatric disorders of childhood. Treatment based on non-validated assumptions may be ineffective and may cause more harm than good. The case is presented of infantile autism which was at first attributed by clinicians to a specific negative effect of parents on their children.

Event-related potential correlates of primed and unprimed words in children co-morbid for disruptive behaviour disorders and academic delay.

Children with disruptive behaviour disorders and academic delay (DD-AD) were compared to children with disruptive behaviour disorders only (DD) and normal control children with no psychiatric disturbance or academic delay (NO) with respect to scalp-recorded event-related electrical potentials (ERPs) elicited by semantically primed and unprimed words. Primed words were preceded by spoken words having a related meaning, while unprimed words were preceded by nonassociated spoken words. For normal controls, the unprimed words elicited greater N400 amplitudes at frontal-central recording sites than primed words.

High throughput parallel analysis of hundreds of patient samples for more than 100 mutations in multiple disease genes.

As more mutations are identified in genes of known sequence, there is a crucial need in the areas of medical genetics and genome analysis for rapid, accurate and cost-effective methods of mutation detection. We have developed a multiplex allele-specific diagnostic assay (MASDA) for analysis of large numbers of samples (> 500) simultaneously for a large number of known mutations (> 100) in a single assay. MASDA utilizes oligonucleotide hybridization to interrogate DNA sequences.

A clinical and academic outcome study of children attending a day treatment program.

Objective: To assess the behavioural and academic improvement of children who attended a day treatment program during a defined period of time.

Method: Forty-six children admitted consecutively to the project were assessed on admission and discharge using behavioural and academic measures. They also had intelligence and language assessments.

Reading and spelling deficits among children attending a psychiatric day treatment program.

To investigate the specific behavioural and cognitive characteristics which may account for academic deficits in children with psychiatric disorders, 50 children admitted to a day treatment and school program were assessed using behaviour questionnaires for parents and teachers, and tests assessing intelligence (WISC-R), language (CELF-R) and academic performance (Kaufman Test of Educational Achievement). The academic measures Reading Decoding, Reading Comprehension and Spelling formed the dependent variables. Behaviour and cognitive measures which distinguished the sample from normative data constituted the independent variables.

Effects of the enediyne C-1027 on intracellular DNA targets.

We examined DNA damage induced by the enediyne-containing antitumor antibiotic C-1027 in intracellular nuclear and mitochondrial DNA targets using the episome-containing cell line 935.1. Strand-scission activity of the C-1027 holoantibiotic was measured by the topological forms conversion assay in episomal and mitochondrial DNA, as well as in cell-free plasmid DNA.