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Asperger syndrome (AS), also known as Asperger's, was the name of a neurodevelopmental disorder no longer recognised as a diagnosis in itself, having been merged into autism spectrum disorder (ASD). It was characterized by significant difficulties in social interaction and nonverbal communication, along with restricted and repetitive patterns of behaviour and interests. It was said to differ from other diagnoses that were merged into ASD by relatively unimpaired language and intelligence. The syndrome was named after the Austrian pediatrician Hans Asperger, who, in 1944, described children in his care who struggled to form friendships, did not understand others' gestures or feelings, engaged in one-sided conversations about their favourite interests, and were clumsy.
Developmental disorders comprise a group of psychiatric conditions originating in childhood that involve serious impairment in different areas. There are several ways of using this term. The most narrow concept is used in the category "Specific Disorders of Psychological Development" in the ICD-10. These disorders comprise developmental language disorder, learning disorders, motor disorders, and autism spectrum disorders. In broader definitions ADHD is included, and the term used is neurodevelopmental disorders. Yet others include antisocial behavior and schizophrenia that begins in childhood and continues through life. However, these two latter conditions are not as stable as the other developmental disorders, and there is not the same evidence of a shared genetic liability.
Affymetrix is now Applied Biosystems, a brand of DNA microarray products sold by Thermo Fisher Scientific that originated with an American biotechnology research and development and manufacturing company of the same name. The Santa Clara, California-based Affymetrix, Inc. now a part of Thermo Fisher Scientific was founded by Stephen Fodor and his group, based on their earlier development of methods to fabricate DNA microarrays using semiconductor manufacturing techniques.
Diagnoses of autism have become more frequent since the 1980s, which has led to various controversies about both the cause of autism and the nature of the diagnoses themselves. Whether autism has mainly a genetic or developmental cause, and the degree of coincidence between autism and intellectual disability, are all matters of current scientific controversy as well as inquiry. There is also more sociopolitical debate as to whether autism should be considered a disability on its own.
Autism spectrum disorder (ASD) is a developmental disorder that begins in early childhood, persists throughout adulthood, and affects three crucial areas of development: communication, social interaction and restricted patterns of behavior. There are many conditions comorbid to autism spectrum disorder such as fragile X syndrome and epilepsy.
Neurodevelopmental disorders are a group of disorders that affect the development of the nervous system, leading to abnormal brain function which may affect emotion, learning ability, self-control, and memory. The effects of neurodevelopmental disorders tend to last for a person's lifetime.
The heritability of autism is the proportion of differences in expression of autism that can be explained by genetic variation; if the heritability of a condition is high, then the condition is considered to be primarily genetic. Autism has a strong genetic basis, although the genetics of autism are complex and it is unclear whether autism spectrum disorder (ASD) is explained more by multigene interactions or by rare mutations with major effects.
Many causes of autism have been proposed, but understanding of the theory of causation of autism and the other autism spectrum disorders (ASD) is incomplete. Attempts have been made to incorporate the known genetic and environmental causes into a comprehensive causative framework. ASD is a complex developmental condition marked by persistent challenges to social interaction, speech and nonverbal communication, and restricted/repetitive behaviors and its phenotypes vary significantly.
The epidemiology of autism is the study of the incidence and distribution of autism spectrum disorders (ASD). A 2012 review of global prevalence estimates of autism spectrum disorders found a median of 62 cases per 10,000 people. In contrast, a 2016 review of global prevalence estimates of autism spectrum disorders found a median of 18.5 cases per 10,000 people. However, there is a lack of evidence from low- and middle-income countries.
22q13 deletion syndrome, also known as Phelan–McDermid syndrome (PMS), is a genetic disorder caused by deletions or rearrangements on the q terminal end of chromosome 22. Any abnormal genetic variation in the q13 region that presents with significant manifestations (phenotype) typical of a terminal deletion may be diagnosed as 22q13 deletion syndrome. There is disagreement among researchers as to the exact definition of 22q13 deletion syndrome. The Developmental Synaptopathies Consortium defines PMS as being caused by SHANK3 mutations, a definition that appears to exclude terminal deletions. The requirement to include SHANK3 in the definition is supported by many but not by those who first described 22q13 deletion syndrome.
The Centre for Applied Genomics is a genome centre in the Research Institute of The Hospital for Sick Children, and is affiliated with the University of Toronto. TCAG also operates as a Science and Technology Innovation Centre of Genome Canada, with an emphasis on next-generation sequencing (NGS) and bioinformatics support. Research at TCAG focuses on the genetic and genomic basis of human variability, health and disease, including research on the genetics of autism spectrum disorder and structural variation of the human genome. The centre is located in the Peter Gilgan Centre for Research and Learning in downtown Toronto, Canada.
GeneDx is genetic testing company that was founded in 2000 by two scientists from the National Institutes of Health (NIH), Sherri Bale and John Compton. They started the company to provide clinical diagnostic services for patients and families with rare and ultra-rare disorders, for which no such commercial testing was available at the time. The company started in the Technology Development Center, a biotech incubator supported by the State of Maryland and Montgomery County, MD. In 2006, BioReference Laboratories acquired GeneDx. Since then, GeneDx has operated as a subsidiary of this parent company under the leadership of Bale and Compton. In October 2016, Benjamin D. Solomon was appointed as managing director.
Neurogenomics is the study of how the genome of an organism influences the development and function of its nervous system. This field intends to unite functional genomics and neurobiology in order to understand the nervous system as a whole from a genomic perspective.
The Center for Applied Genomics is a research center at the Children's Hospital of Philadelphia that focuses on genomics research and the utilization of basic research findings in the development of new medical treatments.
The autism spectrum is a range of neurodevelopmental conditions generally characterized by difficulties in social interactions and communication, repetitive behaviors, intense interests, and unusual responses to sensory stimuli. It is commonly referred to as autism or, in the context of a professional diagnosis, as autism spectrum disorder (ASD), but the latter term remains controversial among neurodiversity advocates, neurodiversity researchers, and many autistic people due to the use of the word disorder and due to questions about its utility outside of diagnostic contexts.
Dup15q syndrome is the common name for chromosome 15q11.2-q13.1 duplication syndrome. This is a neurodevelopmental disorder, caused by the partial duplication of Chromosome 15, that confers a strong risk for autism spectrum disorder, epilepsy, and intellectual disability. It is the most common genetic cause of autism, accounting for approximately 1-3% of cases. Dup15q syndrome includes both interstitial duplications and isodicentric duplications of 15q11.2-13.1.
The genotype-first approach is a type of strategy used in genetic epidemiological studies to associate specific genotypes to apparent clinical phenotypes of a complex disease or trait. As opposed to “phenotype-first”, the traditional strategy that has been guiding genome-wide association studies (GWAS) so far, this approach characterizes individuals first by a statistically common genotype based on molecular tests prior to clinical phenotypic classification. This method of grouping leads to patient evaluations based on a shared genetic etiology for the observed phenotypes, regardless of their suspected diagnosis. Thus, this approach can prevent initial phenotypic bias and allow for identification of genes that pose a significant contribution to the disease etiology.
Burnside–Butler syndrome is a name that has been applied to the effects of microdeletion of DNA sequences involving four neurodevelopmental genes. Varying developmental and psychiatric disorders have been attributed to the microdeletion; however, the great majority of people with the deletion do not have any clinical features associated with it. More studies are needed to delineate the range of clinical presentation.
Males are more frequently diagnosed with autism than females. It is debated whether this is due to a sex difference in rates of autism spectrum disorders (ASD) or whether females are underdiagnosed. The prevalence ratio is often cited as about 4 males for every 1 female diagnosed. Other research indicates that it closer to 3:1 or 2:1. One in every 42 males and one in 189 females in the United States is diagnosed with autism spectrum disorder. There is some evidence that females may also receive diagnoses somewhat later than males; however, thus far results have been contradictory.
References
- ↑ Inc., Lineagen. "Lineagen Announces Identification of 39 Genetic Variants as Novel Risk Factors for Developing Autism Spectrum Disorder (ASD)". www.prnewswire.com. Retrieved 2017-02-16.
- ↑ Tribune, Kirsten Stewart, Heather May And Lindsay Whitehurst The Salt Lake. "University of Utah scientists find 24 new genetic markers for autism". The Salt Lake Tribune. Retrieved 2017-02-16.
- ↑ Lineagen. "Lineagen Completes 9000-Person Study Focused on Genetic Variants in Individuals Diagnosed with Autism Spectrum Disorder (ASD)". www.prnewswire.com. Retrieved 2017-02-16.
- ↑ "U of Utah Researchers Improve Genetic Understanding of Autism". healthcare.utah.edu. Retrieved 2017-02-16.
- ↑ Lineagen. "Lineagen Completes 9000-Person Study Focused on Genetic Variants in Individuals Diagnosed with Autism Spectrum Disorder (ASD)". www.prnewswire.com. Retrieved 2017-02-16.
- ↑ Philadelphia, The Children's Hospital of (2014-08-10). "CHOP Autism Research Among Time's Top 10 Medical Breakthroughs". www.chop.edu. Retrieved 2017-02-16.
- ↑ "Lineagen Launches FirstStepDx Genetic Testing and Counseling Service to Help Physicians Diagnose Autism and Developmental Delay Earlier | Business Wire". www.businesswire.com. 2011-01-10. Retrieved 2017-02-16.
- ↑ "Lineagen, Inc. Closes $5 Million to Complete $10.8 Million Series A Round | Business Wire". www.businesswire.com. 2010-08-30. Retrieved 2017-02-16.
- ↑ Inc., Lineagen. "Lineagen Applies Affymetrix' GeneChip® Technology to Next-Generation FirstStepDx® Service for Individuals with Developmental Delay and Autism Spectrum Disorders". www.prnewswire.com. Retrieved 2017-02-16.
- ↑ "LineaGen Research Corporation Selects Affymetrix Santa Clara California Technology to Discover Genes Associated With Autism and Multiple Sclerosis". www.biospace.com. Retrieved 2017-02-16.
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