2024-09-04 06:22:40
Angelman’s disease is genetic disease which causes problems in the mental and physical development of the affected children. It is a congenital disorder, that is, it is present from birth, although generally check between 2 and 5 years of age.
According to MedlinePlus medical journalwho obtained data from the National Library of the United States, this disease It is related to the UBE3A genelocated on chromosome 15, which is responsible for the production of the E3A ubiquitin ligase protein. Under normal circumstances, each person inherits two copies of this gene, one from the father and one from the mother, but in the case of Angelman syndrome. mother nature does not work correctly and cannot be compensated for by the paternal gene, which is usually inactive for this particular gene.
Symptoms and characteristics of Angelman syndrome
Symptoms of Angelman syndrome may vary from person to person, but there are some common characteristics that affect many patients.
- Too much delay in development and intellectual disability.
- Movement and balance problemssuch as ataxia when walking and tremors in the extremities.
- Characteristic behavior: frequent laughter, cheerful expression, excitement, hand tremors, hyperactivity and limited attention.
- Absence or limited use of oral languagealthough acceptance and non-verbal communication skills are great.
- Other features like slow growthseizures, abnormal electroencephalogram, flat occiput and feeding problems.
Care and education
Currently, there is no cure for Angelman syndrome, so treatment is the focus provide educational care appropriate and address the specific symptoms of each patient. Angelman Disease Association recommends that affected children attend day care centers or early childhood education institutions before age 3 to receive early encouragement and promotion of socialization.
Regardless of those chosen educational optionChildren with Angelman syndrome need the support of special professionals, such as teachers learn pedagogyhearing and language teachers, physical therapists, special education aides and, in some cases, nurses.
Medical follow-up and specialist involved
From the time of examination, Children with Angelman syndrome they must go to periodic medical examinationsespecially with the neuropediatrician, who is in charge of assessing its development and evolution. Also, depending on the individual characteristics of each case, followed by other experts.
- rehabilitation doctor: similar to a child traumatologist.
- Ophthalmologist: to assess and level vision.
- O children: in charge of monitoring the growth and development of teeth.
- Gastroenterologist: especially in the beginning, due to frequent bowel regurgitation in these patients.
In short, Angelman syndrome is a complex genetic disease that requires a multidisciplinary approach to address the various symptoms and needs of those affected. Although there is no cure, an early triggerAdequate educational and follow-up care can significantly improve the quality of life of children and their families.
References
Asa-Angelman. (2024, May 29). Educational Therapy for Angelman Syndrome. ASA – Angelman Saa Association. https://angelman-asa.org/tratamientos
Angelman’s disease: MedlinePlus free medical information. (sf). https://medlineplus.gov/spanish/ency/article/007616.htm
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