Genetic Contributions

It is known that children who have siblings diagnosed with an autism-spectrum disorder have a greater risk of themselves becoming diagnosed with an autism spectrum disorder than do other similar children who do not have a family history of autism. The reason for this increased vulnerability risk appears to be genetic in nature, involving a heightened risk for chromosomal abnormalities. Specifically, abnormalities noted on chromosomes 2, 3, 5, 7 and 15 are associated with a heightened risk for autism.

Other research suggests that mutations on the X sex chromosome (supplied by the mother) are associated with heightened autism risk. If this latter research finding turns out to be true, it would help explain why more males develop autism than females. Genetically, males carry a single X chromosome and a single Y chromosome, while females have two X chromosomes. Genetic errors on one X chromosome can be cancelled out in females by the other X chromosome they have present. This is not the case for males, however, whose Y chromosome cannot cancel out X errors. Correspondingly, if errors on the X chromosome were responsible for autism vulnerability, males would be more likely than females to inherit and express those errors as they develop.

The form or mechanism through which genetic contributions might create a vulnerability to autism is not clear at this time. Genetics may set children up to be particularly sensitive to toxins, to have fragile metabolic systems causing them to have difficulty digesting particular foods, to not be able to make particular enzymes necessary for effective digestion, etc.

The importance of a person-centred approach, focussing on the individual not the diagnosis. Person centred reviews are a way of developing more person centred and responsive services, and developing living descriptions of how people want to live. The aim of the review is to focus on what is “working” and “not working” from different perspectives. With the information gathered through a review we are able to start to change people’s lives (by developing action at the review). By having the person fully at the centre of the review and by including families, promoting inclusion and creating descriptions of how the individual wants to live, person centred reviews lead to change. Living descriptions can be developed into a person centred plan.

It is very important to do the following:

• Provide a reasonable level of daily structure through the use of a daily or weekly diary and prepare the person for any changes to their routine. When a significant change is going to happen, spend time prior to the event talking to he child or adult about what is going to happen and ensure that they have support to manage any anxiety. This may help them cope with change more easily.
• Give a step-by-step list of instructions for completing everyday activities, such as getting ready for school or taking a shower. A wall chart with pictures illustrating each step can be a good way to present this information. This can be helpful for higher functioning children and adults.
• Develop a regular routine for the day including set times for meals, activities and sleep. Once a routine is in place, avoid changing it if possible. Children and adults with ASD can become extremely upset if their routine is changed.