Asperger’s Syndrome and Rett Syndrome are both genetic conditions that were once considered to be on the Autism Spectrum. They are still both mistakenly diagnosed as other conditions today, this is due to overlapping symptoms and behaviours found in other conditions and Autism Spectrum Disorders.
What is Asperger’s Syndrome?
Asperger’s Syndrome is a neurodevelopmental disorder that affects an individual’s behaviour, social skills, communication and their use and understanding of language. It was once characterized as one distinct Autism Spectrum Disorder in a much milder form; however, it is now known as ASD (Autism Spectrum Disorder). Due to it being considered as a higher functioning form of Autism, many believe Asperger’s should be persevered as a separate and individual diagnosis because of its differences.
People with ASD see and understand the world differently than we do, which is not necessarily a negative thing. Many people with Asperger’s have welcomed it as a part of their identity and have found it has been beneficial for many careers due to their increased ability to focus on details, recognise patterns others may miss and their unique way of thinking.
Symptoms associated with Asperger’s Syndrome
Unlike Autism, people with Asperger’s present less severe symptoms and do not have the same learning disabilities. Most people with Asperger’s have normal to above-average intelligence. Like any condition or illness, it is unlikely someone with Asperger’s will experience all of the known symptoms.
• Lack of social awareness.
• Obsessive interest in special topics (trains, cars and even narrower topics such as hoovers). These interests are usually repetitive and intense, their conversations may focus on their special topic and it can be difficult to steer the conversation away from the topic.
• Difficulty making and sustaining relationships.
• Psychiatric conditions (anxiety, depression, ADHD).
• Difficulty understanding the thoughts and feelings of others.
• Inability to understand nonverbal cues and communication.
• Dependence on routines.
• Unusually sensitive to noises, touch, odours, tastes and visual stimuli.
• Although those with Asperger’s present normal language development, they may have difficulties using or applying their language skills in everyday life (disorganised speech, changes in voice and tone, speaking rapidly or slowly, may interpret things literally, difficulty understanding irony and sarcasm).
• Failure to respect interpersonal boundaries.
What is Rett Syndrome?
Rett Syndrome is a rare and progressive neurological disorder which causes a progressive loss of speech and motor skills. Babies born with Rett Syndrome will appear to develop normally until they are between 6 to 18 months old, as symptoms start, they will begin to lose their ability to communicate verbally or with their hands, crawl and walk. Due to its rarity and the number of overlapping symptoms it has with Cerebral Palsy, Rett Syndrome is often misdiagnosed.
It is predominately found in women. This is because Rett Syndrome is caused by an extremely rare and non-heritable mutation of the MeCP2 gene that is located on the X chromosome. As men only have one X chromosome, they very rarely survive past birth.
Symptoms associated with Rett Syndrome
Unlike Asperger’s which has less severe physical symptoms, Rett Syndrome’s symptoms can cause life-threatening complications and even death. It is important to remember that those with Rett Syndrome may not necessarily present all these symptoms:
• Slowed growth (smaller than normal size head in children due to brain growth slowing after birth, as they grow delayed growth in other body parts may also occur).
• Breathing problems (breath-holding, hyperventilation, swallowing air, forceful exhalation, shallow breathing during sleep).
• Scoliosis (can develop between the ages of 8-11.
• Irregular heartbeat.
• Seizures (very common symptom).
• Cognitive disabilities.
• Loss of communication abilities (loss of speech, avoidance of eye contact, children may regain their ability to communicate by developing nonverbal communication).
• Loss of coordination (abnormalities of gait, reduced hand control, spasticity, delayed or absent ability to walk).
• Unusual eye movements (intense staring, blinking, crossed eyes, closing one eye at a time).
• Sleep apnoea.
• Other symptoms (irritability, screaming and crying fits, anxiety, teeth grinding, wringing of hands, small hands and feet, problems with bowel function, general lack of interest in things, withdrawal from social engagement).
Both are lifelong conditions but whereas Asperger’s affects children and adults in a more social and psychiatric way, Rett Syndrome has a much higher effect on the physical nature of the body. It also causes a loss of communication, something Asperger’s patients will still be able to develop normally from a young age. These conditions are treatable, but not curable, it is very possible to live a happy life with them.
by: Me | Photo: commons.wikimedia | Attribution: cyndimccoy / CC BY-SA
