RETT Syndrome - Turbulence from the Autism specturum

The RETT Syndrome almost exclusively affects girls and after some genetical research, the anomaly has been isolated on the X chromozome. This was describe for the first time by a viennese neuro-pediatrician in 1966, Andreas Rett, as a cerebral autrophy with hyperammonemia at girls. It was not recognized utill later in 1983 by publishing some observed cases in Portugal, Sweden and France.

If you observe the girl not walking normally, if she doesn't express herself verbally, is she doesn't play almost at all, if she becomes absent, or doesn't remember something that up untill that moment she could do fine. Also, to draw more attention, if you will see weird movement of the hands, like they would like to draw attention to the fact that there is something wrong. If, after a period of normality, the child's evolution stops or regresses, if she loses motility handling, if the cranial perimeter slows down it's growth, if the manual practical skills shifts simultaneosly with the appearence of some stereotypical hand movements (curl, rotation, rubbing the mouth wih the hands, or the "washing hands" movement). If the expressive and receptive is affected with the existing losses, as well as a loss of interest twoards toys as well as a social plan loss. If problems appear in coordonating the trunk movements and in walking ( balanced walking, unsteady, rigid). If muscular hypotonia appears, or if scoliosis apears, cifoscoliosis, and later on a more pronounced spastical rigidity at the inferior members. Cognitive deterioration will gradually install, cognitive deficiency has different degrees of severity.in addition to these factors there will be some that are more visible like: irregulated breathing, hyperventilation, permanent failiure i controling the sphincter, the lack of an adequate method of chewing, protusionmof the tongue, an unusual EEG.

In 50% of the cases there will be seizures within the RETT Syndroke that will appear before the age of 8.

This affection has a genetical origin where the MECP2 genes of the X chromozome are afected.

Normal interventions are made by using speech, ocupational therapy, music therapy, psychotherapy. Medical treatemnt is good in fighting convulsion, agitation related with breathing turbulances, sleep related problems, osteoporosis. Recomended for eating disorders is a hyper-caloric diet rich in carbohydrates and fat.

Normal evolution indicators from 0 to 36 months

Age	Cognitive Abilityes	Comunication	Movement and PAF	Social Affectiveness
Birth - 3 months	Responds to sounds, follows the movement of the hand with his eyes, he looks at persons and objects	Makes sounds and smiles at the mothers voice	Movement of the arms and legs, grasping objects, opening mouth to breast feed or to formula bottles	He likes to be held in the arms. Makes short visual contact while breast fed.
3 to 6 months	Can differ family members from strangers.	Turns his head to sounds, presents variated cry's and vocal adression to the person he is "talking" to	He is able to sit while being supported and keep his head straight, can shift objects from one hand to the other and he hits objects while playing	Observes strangers, can differ pleasure from unpleasant.
6 to 9 months	Responds to his name and ikktates new gestures	Tryes to use silables without sense and uses his voice to atract attention	He is able to sit by himself, can drink water out of a cup by himself, claps, can "walk on four feet"	Makes a difference between affective speach and aggresive speach. He has fun with other kids and plays with them.
9 to 12 months	Sudies images from a book and can move to a desired object and play with it. He can play simple games.	Imitates new words. Waves "hello" and stops when he is told.	Drinks from a cup and eats with his hand. Walks using objects next to him. Smears using a pencil or a	Laughs while he is playing and has a favourite toy. Responds to the adults mood shifts
12 to 18 months	Points to an object he wants, imitates new sound and gestures	Understands simple comands, starts using words and nods his head when he does not want something	Moves independently, goes up and down the stairs with help. He constructs using cubes or legoes	Feeds the pupet. Hugs at command and repeats an action.
18 to 24 months	Is able to identify parts of his body and poit to them in a book.	Refers to himself using his name and uses 2 words in order to describe an object.	Can undress with help. Grabs objects with 2 fingers, jumps, pushes objects and can turn the pages of a book	Cryes when his parents are leaving and he pays attention to other children.
24 to 36 months	Can recognize himself in the mirror, counts to ten and he can fix objects toghether	Can make 3 word sentences and can do 2 simultaneous tasks.	Draws lines, kicks and throws the ball, can feed himself with a spoon.	Initiates the game, waits for his turn and plays ... Avoids dangerous situations.

Asperger Syndrome - Higly funcional Autism

This syndrome is part of the window still disorders as well as the autism syndrome. The Asperger syndrome is manifested through qualitative damage in social interaction and there are activities and preocupation that are stereotypical and small, but there is no delay in the cognitive evolution of language.

Children with the Asperger syndrome start talkin around the age of 2 (the same age where all the children start to develop their language). The level of intelligence of these children are normal or above normal.

This is a particular form of infantile autism which consists in a intelectul hyper-activity doubled by reduced emotions which apears at children that are older than 3, evolving in the firs years of school.

More tardy manifestation and keeping an unaltered funcion of comunication makes them essencialy differenciate themselves from autism, havin a better procnostic than them.

Parents observe the simptomes of the Asperger syndrome when the child goes to kindergarten and realize that:

• they dislike the daily routine changes
• they do not have the capacity to feel emphaty(they do not reconize and can not relate the emotions of those around)
• they do not recognize sarcastic speaking or jokes
• avoid eye contact
• can speak a lot, especially about a favourite subject
• can be procupyed with things that they are very good at(puzzles, astronomy, detailed project sketches, etc.)
• there is a posibility that the motility evolution could be delayed thus they may have problems handleing a spoon or grabbing a ball
• can be sensitive to light or noise and can over react because of this
• has a very well developed memory and can easy remember things(mathematical, chemical or physical formulas), birth dates or phone numbers.

Some "qualities" of the Asperger syndrome like good memory or the ability to concentrate can substancially increase the chances of a succesful education as an adult.