Heterogeneity Of Asd Wikipedia

Specific data in regards to the individual’s social development and behaviour is collected. Inquiries about core ASD symptoms including, unusual, or repetitive behaviours and social relatedness are done, the family’s input is important.

It is patients’ right to opt for genetic testing on their own DNA, although they are accepting a great risk by doing so.

Females with ASD are significantly more vulnerable than their male counterparts to “delayed or missed diagnosis”, leaving them untreated and at significant risk for adverse psychosocial and medical outcomes (Lai, 2015). Second, understanding the etiology of the gender discrepancies in presentation of ASD will deepen our understanding of the disease from a nosological perspective and possibly lead to new and novel hypotheses about the conceptualization and treatment avenues of ASD. Specific Aims: To examine existing literature for genotypic and phenotypic differences between males and females diagnosed with ASD. While prior meta-analyses have examined the differences between males and females with ASD in the “core triad of impairments”, none have examined genetic variations as well as symptomatology (Van Wjingaarden-Cremers et al. 2014). As our nosological framework is limited in our understanding of gender’s effect on autism, examining both phenotypic and genotypic data such as neuroimaging (brain MRIs), and genetic analyses, could further our understanding. On examination of brain MRI, genetic mutation burden, and symptomatic impairments validated using various outcome measures such as the Wechsler Abbreviated Scale of Intelligence - Second Edition, Social Responsiveness Scale, Second Edition and the Child Behavior Checklist, females with

The primary cause of ASD is an idiopathic process and so cannot identify the precise disease mechanism. ASD is a progressive disease and is characteristically diagnosed during early childhood and can persist throughout an individual lifetime, needing lifetime specialist support with functional impairment (John Hopkins, 2014). Studies has shown that as an individual diagnosed with ASD grows they have an significantly increased risk of developing medical and psychiatric disorders which is contributed from the biological make-up of the individual (Perkins et al, 2012) including dyslipidaemia, gastrointestinal problem, epilepsy hearing, visual impairments, asthma, hypertension, heart disease, cancer, osteoporosis and autoimmune

Genetic testing has brought about many changes in the way many couples look at conceiving and raising families. Through genetic testing you are able to screen for the increased chance that a fetus may have one of many congenital disorders, or even identify gene changes that are responsible for a disease that has already been diagnosed (Genetic Testing, March 2015). Unfortunately genetic testing is not always exact, in some cases giving parents false negatives or false positive results. Even if the results are accurate, there is the burden of knowledge once you know the results indicate a genetic abnormality such as Down’s syndrome. While caring for a 2 year old male patient with developmental delays and anotia, I learned that genetic testing had been started but never completed on the child. Genetic testing could help to identify genetic disorders that led to the child’s developmental delays and possible future disorders that may develop. The ethical dilemma I will be discussing to the ANA Ethical dilemma of the impact of informed consent of genetic testing on children for adult onset diseases and disorders.

Research has found that on average 33% of youths in the juvenile justice system are identified as disabled and eligible for special services. However, there has been little research studying the characteristics or prevalence rates of youth with ASD in the criminal justice system. Individuals with autism spectrum disorder (ASD) commonly have impairments in communication, social skills, deficits in abstract thoughts and specific interests that could prevent individuals with ASD from understanding legal and illegal behaviors. It is also suspected that the high rates of psychiatric comorbidity associated with ASD, for example ADHD, may increase the risk of delinquency in youth with ASD.

In chapter four of her book Genetic Dilemmas, Dena Davis asserts that it is unethical for parents to subject their children to genetic testing for the markers of adult-onset genetic diseases because it places an unfair constraint on a child’s right to an open future. It both removes the child’s ability to choose whether to be tested as an adult and has the potential to negatively alter the overall trajectory of their lives. While the current consensus amongst medical professionals is that such testing should be prohibited (Davis, _____), many concerned parents correctly point out that discouraging such testing creates a conflict of interests between the “beneficence model of patient care and the rights of parents to their own autonomy”

Genetic testing has become a highly controversial issue among both the general population and the scientific community. It is a process that exposes a person’s entire genome sequence, allowing it to be read and evaluated to identify potential risks for genetic diseases or diseases that could be passed onto offspring (Holt Productions, 2012). With thousands of genetic tests already being used, and more being established, it seems logical to put this growing technology to use. Some agree that it is a person’s right to know and understand his or her genetic makeup. However, others argue that, despite the benefits of genetic testing, caution should be used to carefully inspect the risks associated with this new technology.

The DSM-5 notes frequent co-occurrence of other neurodevelopmental disorders. However, if a child’s symptoms are better and more completely explained by ASD, intellectual developmental disorder, global developmental delay or another mental disorder, a diagnosis of SCD cannot be made. The notable absence of restricted and repetitive behaviors is the important in appropriately diagnosing a patient with SCD versus ASD.

The future of understanding the pathophysiology and etiology of ASD is promising. Increased research and testing efforts have improved. There has been remarkable progress towards genetics, neurobiology, and treatments and early interventions.

People with ASD, more than other DD populations, exhibit an increased risk for developing or engaging in SIB (Minshawi et al., 2014). This may result from the vast array of challenges children with ASD face depending on severity of symptoms, early intervention, and personal and environmental risk factors. Predictors of SIB include: the diagnosis of intellectual disability (ID) and degree of intellectual impairment, impairment of adaptive function skills (communication deficits, social skill deficits, motor impairments, lack of self-care skills), sleep

Studies has shown that as an individual diagnosed with ASD grows they have an significantly increased risk of developing medical and psychiatric disorders which is contributed from the biological make-up of the individual (perkins et al, 2012) including dyslipidaemia gastrointestinal problem epilepsy hearing and visual impairments asthma hypertension heart disease, cancer, and osteoporosis. and autoimmune conditions throughout a varied age group (Croen et al, 2014).

In 2013 DSM-5 was published and the information within this publication has changed greatly in relation to possible ASD diagnoses. DSM-5 has removed the indicators of cognitive delay and language delay from diagnoses, and that they are in fact markers of intellectual impairment, which 40% of children with an ASD

3: Promoting informed decision making is a valuable recommendation when sufficient evidence is available on analytical and clinical validity and risk and benefit analysis is favorable but not definitive. Furthermore, discourage the use of testing when there is no or little information on validity or utility and evidence of harm. These recommendations and rigorous outcomes research can provide sufficient guidance in clinical practice for assessing the impact of genomic testing on patients, their families, and population based health outcomes.

genetic testing, everything has changed. She notes that clinicians now have the ability to diagnose, treat, and monitor a patient’s illnesses or disease progression in an entirely different manner. This is a far cry from the old medical model of responding to a disease (or defect) only after it appears, and then prescribing the recommended medication or intervention. These genetic medical advances sound miraculous and promising, but the ability to test, screen and provide early intervention does not come without many major ethical dilemmas.