More than 90% of children with AS have convulsions, but the incidence of convulsions may be overestimated. In fact, less than 25% of children with AS do not have tics before 12 months of age. Most symptoms occur before the age of 3, but there are no exceptions in older children or adolescents. Seizures may take various forms (such as sudden jerking movements, sudden loss of consciousness for a short period of time) and require multiple anticonvulsant medications. But twitching movements are difficult to distinguish from the trembling, dancing limb movements and attention deficit that are characteristic of AS. The EEG pattern of AS patients can usually more accurately identify the convulsive behavior of AS.
Drugs commonly used to treat convulsions such as valproic acid (e.g., Depakote), topiramate (Topamax), carbamazepine (Tegretol), clonazepam (Klonopin), ethosuximide (Zarontin), phenytoin (Dilantin), phenobarbital, ACTH wait. Seizures often cannot be controlled by a single medication. Some uncontrollable convulsions are treated with a ketogenic diet, but the effectiveness is still uncertain. In addition, excessive drug treatment is dangerous, because abnormal movements and attention deficits in AS can easily be misdiagnosed as symptoms of convulsions. Even if the convulsions are controlled, the EEG results will still show abnormalities. In early infancy, children with AS have excessive movement in the trunk and limbs. In addition, during the first six months of life, there will be high tension and tremors. Voluntary movements often include irregular and changing movements, ranging from slight tremors to uncoordinated gross movements, including refusal to walk, feed, and grasp objects. The development of gross motor movements is slow. Children usually do not sit until they are 12 months old and do not start walking until they are 3-4 years old.
In early childhood, children with minor injuries have almost normal shifting abilities, except for a slight fingertip walk or occasional jumping steps, usually accompanied by a sudden forward bend of the trunk. The tendency to lean forward suddenly occurs when running, and the hands are raised during rapid movements. For these children, balance and coordination are not major issues. The most serious effects are shifting movements that are very stiff and mechanical or extremely shaking and trembling. Although they can crawl normally, they will appear very anxious or stiff when moving to a standing position. Their legs remain splayed, flat-footed and splayed out. Therefore, these characteristics, along with the raised arms, bent elbows, and lowered and turned hands, have become the main characteristics of AS. About 10% of children with AS are unable to walk because these trembling and freezing behaviors are too strong and affect their motor development. Such children with AS are not easy to detect and are easily diagnosed as non-specific cerebral palsy. Physical therapy provides the critical training needs and predictably good results. Hyperactivity may also be the most typical behavior among children with AS. It is better to say that it is excessive movement (hypermotoric) accompanied by a very short attention span. Basically all people with AS are hyperactive and have difficulty concentrating, and this is true for both men and women. Babies and toddlers with AS seem to be unable to stop moving and are constantly putting toys and hands into their mouths to suck and bite food. As children get older, they continue to grab, throw, and bite food. Consistent behavior changes and adjustments can help children with AS eliminate these behaviors.
Children with AS have very short attention spans and are unable to detect faces and other social messages. In milder cases, simple gesture language can be trained to communicate, and training can be carried out through structured teaching. Adolescents with AS find that their hyperactive behaviors diminish with age. Most children with AS do not receive active medication (such as methylphenidate (Ritalin)). Generally speaking, it is not recommended to use sedatives and other drugs to intervene in the control of hyperactive behavior in these children. It is still unclear why patients with AS laugh excessively, and even the reasons why normal people laugh are not yet clear. However, no structural abnormalities related to laughter were found in CT and MRI studies.
Although tics may be related to laughter, such as elastic epilepsy, they are not the cause of AS. Smiling in AS is often conveyed through expressive movements (usually a smile or a grimace that resembles a smile) and is primarily a response to physical and psychological stimulation. Although AS smiles vary greatly in appearance, they are still primarily happy in appearance.
This special behavior of AS first appears between 1 and 3 months old and begins to develop after the baby begins to smile socially. It starts with giggling, then keeps smiling, and finally reflexive laughter but delayed speech expression can be observed. Then, several types of facial expressions and behavioral expressions form the personality characteristics of AS infants. About 70% of children have bursts of laughter. In addition, happy expressions and postures can be clearly observed. In rare cases, these outward expressions of happiness mean irritation and hyperreactivity, which are less frequent and replaced by screaming, crying, or throat-clearing sounds as the main expression. Some children with AS appear to have sufficient language comprehension to allow them to express themselves, but even the best-functioning children with AS are unable to develop communicative language skills. Clayton-Smith observed 47 children with AS and found that only a few of them could express 1-3 words of language. Buntinx reports that 39% of AS can speak up to 4 words, but does not mention whether these words can be expressed appropriately. AS with UPD and subtle defects can have better oral and cognitive skills and can use about 10-20 words, but their articulation and pronunciation are still difficult to correct.
The language abnormalities of AS have a typical pattern. Babies with AS cry less often and the frequency of cooing sounds gradually decreases. ㄇㄚㄇㄚ appears around 10-18 months, but it cannot be expressed appropriately and has no representative meaning. Between 2 and 3 years of age, language development is delayed, crying behavior, and verbal expressions gradually decrease. By age 3, higher-functioning children with AS begin to use nonverbal language. Usually expressed with gestures, pointing to body parts or pointing to needed items, they usually have a better ability to follow and understand instructions. AS with severe epilepsy or hyperactivity cannot establish the simplest communication contacts, such as eye contact. Communication board and sign language training can effectively increase AS’s ability to interact with the environment. Developmental tests assess attention deficits, hyperactivity, and poor language and motor control. The assessment results are generally in the range of severe functional impairment. Children with better attention skills may be in the moderately delayed range. In addition, among some children with acceptable social interaction skills, it can even reach the level of mild retardation. In addition, among the different types of AS, AS children with UPD have better development than children with chromosomal defects. The greater the scope of the chromosomal defect, the weaker the overall development phenomenon.
In terms of cognitive performance, general tests will underestimate the cognitive ability of AS. The main part is the difference between language expression and language understanding. In terms of language understanding, children with AS are significantly better than other types of severe delays. Adolescents with AS usually have good social adaptive behaviors and can interact with interpersonal cues. Because AS are interested in people, they can often establish a positive friendship relationship and a good social interaction situation. They can participate in group activities, household chores and have the ability to take care of themselves. And like normal people, Han people can enjoy some leisure activities such as watching movies and doing sports.
AS has individual differences in the range of cognitive abilities. Some children with more severe attention deficit disorders also appear to have less control over tics and trembling movements. However, most children with AS are not so severe that they cannot be controlled. As long as they have a safe family environment and consistent behavioral management, children with AS can usually make significant progress. About 30-60% of children with AS have strabismus, and this problem is more obvious in children with AS whose eye pigment has faded. Because pigment plays an important role in the development of the eyeball and optic nerve, abnormal pigment development often leads to obvious visual problems.
The treatment for children with AS strabismus is the same as for children with strabismus: they need to see an ophthalmologist, correct the visual defect or even undergo surgical intervention. Hyperactive AS may have a strong resistance reaction when wearing glasses. About 70-75% of AS is caused by large-scale defects and UPD. The recurrence rate is very low (<1%). Prenatal molecular and cellular analysis can detect this component.
AS with IC mutation or defect may be inherited from a genetically normal mother or a spontaneous mutation. If the former has a recurrence rate of 50%, the latter has a recurrence rate of less than 1%. Cases of UBE3A mutations, like cases of IC mutations, may be inherited from a genetically normal mother or may be a spontaneous mutation. The recurrence rate of the former is 50%, while the recurrence rate of the latter is less than 1%. When both UBE3A and IC mutations are suspected, molecular biochemical analysis of the parents' blood can be performed. For family members of AS with normal genetic structure, it is very difficult to estimate the recurrence rate. However, if someone in the family has AS (such as a large-scale defect), the incidence rate will be higher. It is worth noting that general genetic examination cannot detect the tendency of AS, nor can abdominal ultrasound and amnitocentesis. Only special genetic testing (FISH) can be reviewed.
Estimating recurrence risk is complex, so it is recommended to seek out an expert who understands AS when conducting genetic counseling.