However, most children with Angelman syndrome will be able to communicate using gestures, signs or other systems. The movement of a child with Angelman syndrome will also be affected. They may have difficulty walking because of issues with balance and co-ordination ataxia. Their arms may tremble or make jerky movements, and their legs may be stiff.
Several distinctive behaviours are associated with Angelman syndrome. These include:. By around 2 years of age, a small head which is flat at the back microbrachycephaly may be noticeable in some children with Angelman syndrome. Children with Angelman syndrome may also start to have seizures or fits around this age. Some young babies with Angelman syndrome may have difficulties feeding because they're unable to co-ordinate sucking and swallowing.
In such cases, a high-calorie formula may be recommended to help the baby gain weight. Babies with Angelman syndrome may need to be treated for reflux. In most cases of Angelman syndrome, the child's parents do not have the condition and the genetic difference responsible for the syndrome happens by chance around the time of conception.
Angelman syndrome usually happens when the gene known as UBE3A is either missing or not working properly. Genetics Home Reference has merged with MedlinePlus. Learn more. The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.
Angelman syndrome. From Genetics Home Reference. Description Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Frequency Angelman syndrome affects an estimated 1 in 12, to 20, people. Causes Many of the characteristic features of Angelman syndrome result from the loss of function of a gene called UBE3A.
Inheritance Most cases of Angelman syndrome are not inherited, particularly those caused by a deletion in the maternal chromosome 15 or by paternal uniparental disomy. Research Studies from ClinicalTrials. References Buiting K. Prader-Willi syndrome and Angelman syndrome. Angelman Syndrome. A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations.
J Dev Behav Pediatr. How does Angelman syndrome affect life expectancy? Planning for the future For most parents, it is likely their child with Angelman syndrome will outlive them. Last updated: Oct. Print This Article. Recommended reading.
November 10, News by Margarida Maia. November 4, Columns by Sabrina Johnson. What are the symptoms? Children with Angelman syndrome tend to have some, but not necessarily all, of the following behaviors and characteristics: Hand flapping or walking with arms in the air Jerky body movements Stiffed-leg walk Little or no speech Attention deficits Hyperactivity Feeding problems, especially in infancy Sleep problems and a need for less sleep than their peers Delays in motor development Frequent laughter that may occur at inappropriate times Excitable personality Tongue thrusting Strabismus crossing of the eyes Small head size with flatness in the back of the head A lower jaw that juts out Light pigmentation in the hair skin and eyes Are there medical complications associated with the disorder?
Feeding difficulties, such as problems sucking and swallowing, may occur during the first few months of life. Sleep disorders, such as frequent waking, may need to be treated with medication or behavior therapy. Hyperactivity tends to decrease as children get older, but many young children with Angelman syndrome may have short attention spans and move quickly from one activity to the next.
What is the prognosis of a child with Angelman syndrome? The commitment and compassion with which we care for all children and families is matched only by the pioneering spirit of discovery and innovation that drives us to think differently, to find answers, and to build a better tomorrow for children everywhere.
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