developmental Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that is characterized by deficits in social
communication, interaction, and stereotypical behaviours. Children with ASD have not enough opportunities
to participate in physical activity (PA), which lead to increase fitness and health problem. The aim of this
study was to compare two programs on motor skills. In the current investigation, 30 high functioning autistic
children were diagnosed by a psychiatrist and randomly divided into control and experimental groups. The
evaluation tools included the Brininx-Oresetsky Test (BOT) and a program named “I can have physical literacy” (ICPL) and Sport, Play, and Active Recreation for Kids (SPARK). The experimental intervention groups
received sixteen sessions of 60 min, while the control group did not receive any treatment. Analysis of covariance was used to determine the difference between the groups. Post-hoc test was used to compare pairs
of groups. Results showed that the experimental ICPL and Spark groups had increased motor skills (MS).
There were significant differences between groups on gross motor skills. There were significant differences
between the control and experimental ICPL groups, and between the experimental Spark and experimental
ICPL groups. Both of these programs increased MS. ICPL program that address the characteristics of
children with ASD, have a positive effect on their MS.

To provide an overview of the history, evolution, and nosology of the diagnostic constructs for "borderline syndrome of childhood," also known as "multiple complex developmental disorder." The authors synthesized information found via electronic searches of databases (MEDLINE, PsycINFO, Current Contents, Humanities Abstracts, and Social Sciences Abstracts) and bibliographic directed searches. Although early publications (prior to 1980) were either highly anecdotal or lacking in scientific rigor, they were nonetheless noted for their historic value and influence on research trends. The recent publications (1990s) were characterized by more rigorous methodology and greater generalizability. Current classifications, proposals for diagnostic criteria, epidemiological data, and nosological suggestions were summarized. The literature supports the creation of a new diagnostic label to describe a population of children whose symptoms are currently subsumed under the labels "borderline" or "multiple complex developmental disorder." A full characterization of the syndrome, including its evolution, would require prospective studies and may differ from the known evolution for personality disorders and/or pervasive developmental disorders. The authors propose a process by which a new nomenclature is derived.

This article reviews some of our investigations concerning individual differences in temporal information processing. Two different levels of temporal information processing are discussed, namely the low-frequency (i.e., a few seconds time range) and the high-frequency processing level (i.e., some tens of milliseconds range) of temporal information with respect to various experimental paradigms. Evidence has been obtained indicating that the processing of temporal information on these two levels can be influenced by various subject-related factors, out of which age, gender, developmental disorders, auditory experience and localisation of damage in the brain seem to be the most significant.

Autism is a heritable developmental disorder of communication and socialization that has not been well studied in Hispanic populations. Therefore, we are collecting and evaluating all possible cases of autism from a population isolate in the Central Valley of Costa Rica (CVCR) for a clinical and genetic study. We are assessing all subjects and parents, as appropriate, using the newly translated Spanish versions of the Autism Diagnostic Interview-Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS) as well as tests of intelligence and adaptive behavior. Detailed obstetric and family medical/psychiatric histories are taken. All cases are tested for Fragile X and will be extensively evaluated for cytogenetic abnormalities. To date we have obtained clinical evaluations on over 76 cases of possible autism referred to our study and report data for the initial 35 complete cases. The mean age of the probands is 6.7 years, and 31 of the 35 cases are male. Twenty-one of the c...

Knobloch syndrome (KS) is a developmental disorder characterised by occipital skull defect, high myopia, and vitreo-retinal degeneration. Although genetic heterogeneity has been suspected, COL18A1 is the only known KS disease gene to date. To identify a novel genetic cause of KS in a cohort of Saudi KS patients enrolled in this study. When COL18A1 mutation was excluded, autozygosity mapping was combined with exome sequencing. In one patient with first cousin parents, COL18A1 was excluded by both linkage and direct sequencing. By filtering variants generated on exome sequencing using runs of autozygosity in this simplex case, the study identified ADAMTS18 as the only gene carrying a homozygous protein altering mutation. It was also shown that Adamts18 is expressed in the lens and retina in the developing murine eye. The power of combining exome and autozygome analysis in the study of genetics of autosomal recessive disorders, even in simplex cases, has been demonstrated.

Asperger’s syndrome is a relatively newly diagnosed developmental disorder within the autistic spectrum. Children and adults with Asperger’s syndrome have an intellectual ability within the normal range but due to their unusual profile of cognitive, social and emotional abilities are vulnerable to the development of a secondary mood disorder. This paper provides an explanation of the abilities associated with Asperger’s syndrome, and modifications to cognitive behaviour therapy (CBT) for this very unusual client group. In particular, the paper empha-sises the importance of affective education for this clinical population and describes a new strategy used in cognitive restructuring, namely, the emotional toolbox. The paper concludes with a brief description of a current evaluation study of the effectiveness of CBT to treat anxiety and anger in children who have Asperger’s syndrome. However, the strategies described in this paper can also be used with adults with Asperger’s syndrome a...

DNA methylation contributes to the control of gene expression and plays an essential role in cellular physiology. Well-defined patterns of DNA methylation are established and fixed during embryonic development, and changes in these patterns may be a contributing factor in developmental disorders, cancer and aging. Not least the possibility of using DNA methylation as a marker for disease has created a strong need for techniques to detect and measure DNA methylation. Different techniques provide information on DNA methylation at different levels, spanning from genome-wide methylation content to methylation of single residues in specific genes. The limitations of individual techniques strongly affect interpretation of data. In this review, we discuss some general themes in DNA methylation analysis and outline the basic principles of current key techniques. We discuss the advantages and disadvantages of these techniques, including potential artifacts and pitfalls, and suggest some over...

Traditional approaches to diagnosing autism emphasize delays in communication and socialization. Traditional diagnostic schemes typically list symptoms (e.g., lack of eye contact), but provide little guidance on how to incorporate information about developmental level in making a diagnosis. Because standardized measures of adaptive behavior can provide information about children's communication, socialization, and other behavior relative to their age, they may be useful tools for diagnosing autism. This study investigated the ability of the Vineland Adaptive Behavior Scales to identify children with autism. Vineland scores and measures of intellectual functioning were obtained for children with autism, PDDNOS, and other developmental disorders (DD). Discriminant function analyses indicated that the autism and combined nonautism (PDDNOS and DD) groups could be differentiated on the basis of socialization, daily living skills, and serious maladaptive behaviors. Socialization alone...

Our research focuses on perceptual and cognitive mechanisms involved in learning procedures in order to develop and validate innovating technologies in the field of health for blind people through the implementation of an embarked version of a Tactile Vision Sensory Substitution device (TVSS) with wireless connections between the three TVSS components (micro camera, coupling system and matrix of tactile stimulators), aesthetically acceptable and allowing an ecological use. Such a device could allow prevention of developmental disorders in blind infants, autonomy for blind people in everyday life (thanks to the implementation of a Human Machine Interface allowing connections between the embarked TVSS device and a Personal Computer with a software development presenting a 3D numerization of the subject's urban environment). A new perspective is proposed in favour of innovating taking care programs for autistic people. The main goal of this project is to allow disabled people to be...

Background: Over the past few years parenting has become the focus for political attention in an attempt to tackle high levels of disruptive and anti-social behaviour. The Incredible Years (IY) programme (Webster-Stratton, 1999) is one of the parenting training packages that has been identified as a treatment of choice. There are, however, few studies available to demonstrate the clinical relevance

H-ras, N-ras, and K-ras are canonical ras gene family members frequently activated by point mutation in human cancers and coding for 4 different, highly related protein isoforms (H-Ras, N-Ras, K-Ras4A, and K-Ras4B). Their expression is nearly ubiquitous and broadly conserved across eukaryotic species, although there are quantitative and qualitative differences of expression depending on the tissue and/or developmental stage under consideration. Extensive functional studies have determined during the last quarter century that these Ras gene products are critical components of signaling pathways that control eukaryotic cell proliferation, survival, and differentiation. However, because of their homology and frequent coexpression in various cellular contexts, it remained unclear whether the different Ras proteins play specific or overlapping functional roles in physiological and pathological processes. Initially, their high degree of sequence homology and the observation that all Ras i...

... 10.1080/08098131.2011.566933 Gustavo Schulz Gattino a * , Rudimar dos Santos Riesgo a , Dânae Longo b , Júlio César Loguercio Leite c & Lavina Schüler Faccini a pages 142-154. ... This proposal was created by music therapist Rubén Gallardo (200416. Gallardo, R. 2004. ...

Autism is a complex developmental disorder without an established single etiology but with significant contributions from genetic studies, functional research, and neuropsychiatric and neuroradiologic investigations. The purpose of this paper is to review the findings in five studies involving individuals manifesting the characteristic findings of autism spectrum disorder associated with malformations and dysfunctions known to result from early embryogenic defects.

Lowe's oculocerebrorenal syndrome (OCRL) is a human X-linked developmental disorder of unknown pathogenesis and has a pleiotropic phenotype affecting the lens, brain and kidneys. The OCRL locus has been mapped to Xq25-q26 by linkage and by finding de novo X; autosome translocations at Xq25-q26 in two unrelated females with OCRL. Here we use yeast artificial chromosomes with inserts that span the X chromosomal breakpoint from a female OCRL patient in order to isolate complementary DNAs for a gene that is interrupted by the translocation. We show that the transcript is absent in both female OCRL patients with X; autosome translocations and that it is absent or abnormally sized in 9 of 13 unrelated male OCRL patients with no detectable genomic rearrangement. The open reading frame encodes a new protein with 71% similarity to human inositol polyphosphate-5-phosphatase. Our results suggest that OCRL may be an inborn error of inositol phosphate metabolism.