Angelman syndrome (AS) is characterized by a delay in physical and mental development. People with Angelman syndrome require lifelong constant care because they cannot care for themselves or properly assess danger. The rare genetic disorder got its name from British pediatrician Harry Angelman, who was the first to describe the condition from a scientific perspective in 1965.
What is Angelman syndrome?
Externally, people with Angelman syndrome are noticeable for having a flat back of the head, a large mouth with a protruding lower jaw, and a wide-legged uncoordinated gait. Other features of Angelman syndrome include poorly pigmented skin, and small hands and feet. Scoliosis, an S-shaped curvature of the spine, often occurs during puberty. 90 percent of people with Angelman syndrome suffer from epilepsy. Peculiarities in behavior are expressed, among other things, by a cheerful-seeming basic mood with frequent smiling and laughing, a conspicuous enthusiasm for water, and an intense search for physical closeness. Difficulty concentrating, failure to speak, and a longer-than-average duration of the oral phase also characterize Angelman syndrome.
Causes
The causes of Angelman syndrome are hereditary. The most common is an abnormality on the 15th chromosome inherited through the mother. Most often, this abnormality consists of missing small sections of the chromosome. On the other hand, ten percent of the anomaly is a gene mutation. In these cases, no defective sections on chromosome 15 were found in the mother of the child with Angelman syndrome. Accordingly, it is possible that the anomaly arose during the development of an egg. In individual cases, the cause of Angelman syndrome may also be that both chromosomes 15 originate from the father alone. In about ten percent of those affected with Angelman syndrome, no abnormalities of the 15th chromosome pair were detectable. It is possible that the change in the genetic material is too small, and cannot be detected with currently available technology.
Symptoms, complaints, and signs
Angelman syndrome manifests itself through various physical symptoms and behaviors. The typical signs usually appear after the age of three and affect the entire body. Initially, affected children suffer from movement or balance disorders, which can vary in severity. Typical are the uncoordinated gait and jerky movements of the arms and legs. Accompanying this, hypermotor and hyperactive behavior may be observed – those affected are restless and move incessantly. Speech development is usually impaired. The affected persons understand what is said to them, but they cannot speak themselves in most cases. In general, physical and mental development is delayed, which manifests itself in the course of the disease through increasing retardation and various physical limitations. In addition, Angelman syndrome can cause many other symptoms. Affected children often have epileptic seizures or suffer from so-called microcephaly, a head that is too small. Other external features include a pronounced jaw and wide mouth, widely spaced teeth, squinting, and wide-legged walking with feet turned outward. Affected children are also fascinated by water, crackling paper and plastic and have unusual eating behavior. Low-pigmented skin is also typical, along with light hair and eye color.
Diagnosis and course
To date, two methods are known to diagnose Angelman syndrome. Between the ages of three and seven, pediatric neurologists notice abnormal EEG readings. Certainty as to whether the child was born with Angelman syndrome is provided by a positive genetic test. In infancy and early toddlerhood, the existing developmental problems in Angelman syndrome are hardly noticeable. Diagnoses are made with an average frequency of 1 : 15,000 to 1 : 20,000. There may be several more cases of this peculiarity. Often the diagnosis of Angelman syndrome is not made at all. Instead, it is assumed to be autism. Both boys and girls have the possibility of being born with Angelman syndrome. The life expectancy of people with Angelman syndrome is normal.Early remedial education can greatly improve their independence.
Complications
Angelman syndrome primarily involves mental and physical development. Frequently, the affected person will laugh for no reason. This may seem repulsive and strange to many fellow patients, causing them to isolate the affected person socially. In addition, hyperactive and hypermotor behavior is observed, so that the risk of injury is high. In the context of Angelman syndrome, epileptic seizures occur more frequently, and the affected person can injure himself. In addition, life-threatening status epilepticus may occur. This particularly long-lasting seizure can occur several times in succession and is difficult to treat, which is why an emergency physician should be called in immediately and intensive medical care should be initiated. Furthermore, one patient develops strabismus. In the early years this should be treated as soon as possible, since it cannot be reversed already at school age and can thus lead to amblyopia. After surgery, there is always a risk that the strabismus will return, so that further surgery of the eye muscles is necessary. Another complication of Angelman syndrome is spinal curvature (scoliosis). Over the years, the vertebral bodies and their intervertebral discs wear out more and more, causing severe pain. The thorax also becomes smaller, organs are constricted and limited in their function, such as the heart or lungs.
When should you go to the doctor?
If Angelman syndrome is suspected, parents should talk to the pediatrician in charge or a pediatric neurologist. Whether the condition is present can be determined by various physical symptoms and behaviors. If this clinical picture (delayed mental and physical development, movement and balance disorders, etc.) is noticed, a visit to the doctor is recommended. Especially the main characteristic, very frequent and groundless smiling, should give reason for a medical clarification. The symptoms usually appear between the 3rd and 7th year of life and can be self-assigned on the basis of information brochures and forums. A medical diagnosis should nevertheless take place so that appropriate therapeutic measures can be initiated quickly. Part of the treatment should always be discussions with psychologists and other affected parents. Parents should also consider attending special discussion groups for children with Angelman syndrome. In some cases, Angelman syndrome requires emergency medical attention. Then, for example, if seizures occur or an accident occurs as a result of the movement and balance disorders.
Treatment and therapy
Angelman syndrome is not curable to date. However, adequate measures to treat the physical symptoms are medically relevant. Physiotherapy is suitable for stabilizing the spine to counteract possible consequential damage caused by scoliosis, which occurs in very many people with Angelman syndrome. If necessary, the administration of appropriate medication is necessary to prevent epileptic seizures. People with Angelman syndrome do show impaired speech development and almost never speak for themselves. Nevertheless, they have a good understanding of speech. With professional support, affected individuals are quite capable of learning alternative forms of communication such as sign-assisted communication or visual communication. Through therapeutic horseback riding, children with Angelman syndrome are able to improve their sense of balance and thus walk more confidently. Other therapeutic measures to improve fine motor skills, independence and body awareness include occupational therapy, speech therapy and sensory integration therapy. In addition, attentive care, loving attention, and intensive educational support have a positive effect on people with Angelman syndrome.
Outlook and prognosis
As a rule, Angelman syndrome has a very negative effect on the patient’s development and can greatly delay it. Not only the patient’s mental but also physical and motor development is restricted, resulting in severe limitations and difficulties in adulthood. Not infrequently, those affected are then dependent on the help of other people. This leads to disturbances in coordination and concentration.Reading and writing are also usually difficult for those affected by Angelman syndrome, and speech disorders occur. Furthermore, the patients can also suffer from epileptic seizures, which in the worst case can also lead to death. The behavior of the affected persons is hyperactive, whereby parents and relatives not infrequently suffer from psychological complaints or depression. A direct causal treatment of this disease is usually not possible. Those affected are dependent on therapies and on the help of other people throughout their lives. It is usually not possible to universally predict whether the disease will also result in a reduced life expectancy.
Prevention
Angelman syndrome cannot be prevented. It is possible to detect Angelman syndrome in the unborn child by genetic testing during pregnancy. However, such a procedure carries numerous risks and should only be performed after thorough consideration in consultation with the attending physician. Angelman syndrome cannot be detected by ultrasonography.
Follow-up
In Angelman syndrome, the options for follow-up care are usually very limited. Because it is a hereditary disorder, it cannot be treated completely and also only purely symptomatically. The affected person is usually dependent on lifelong therapy. If there is still a desire to have children, genetic counseling can also be performed to prevent the Angelman syndrome from being passed on to the children. Treatment for the syndrome usually involves physical therapy and various exercises. These can also be performed in the patient’s own home, which significantly increases the mobility of the affected person. In most cases, intensive and loving care by relatives and family also has a very positive effect on the further course of the disease. However, the patient with Angelman syndrome always needs support in his daily life and often cannot master it alone. Intensive support can also alleviate the intellectual complaints. The life expectancy of the affected person is usually not limited by Angelman syndrome.
What you can do yourself
Because affected patients suffer from a delay in physical and mental development, they are usually unable to take self-help measures on their own. Moreover, this genetic disease occurs from birth. Therefore, it is primarily the family members of the patients who are called upon to help. Angelmann syndrome is a relatively rare disease. Parents should therefore make sure that their child is cared for by a doctor who has experience with this disorder. In most children with Angelmann syndrome, speech development is severely delayed. Targeted speech therapy support for the child cannot eliminate this deficit, but in some cases it can at least attenuate it. Often, however, those affected are still unable to communicate with their environment by means of speech. However, many Angelmann patients have a good understanding of speech and are therefore able to learn sign language. This ability should be imparted to the affected persons as early as possible, since communication with their environment has a positive effect on their mental development. Physiotherapeutic measures help against the physical impairments, especially scoliosis, which often begins at the onset of puberty. In addition, the sense of balance and motor skills can be promoted by occupational therapy. In addition, parents of affected children should look for a suitable special school in time, where sign language is also taught.
