Symptoms and Diagnosis
Angelman’s syndrome, which affects 1 in 20,000 births (indifferently both sexes), is characterized by delayed psychomotor development, mental retardation, impaired balance and coordination (ataxia), and walking unstable. In 100% of the cases, the “Angelman” have a joyous appearance: they have easy and frequent laughter and hyperexcitability accompanied by a certain motor agitation. An agitation that Denise Laporte, President of the French Association of Angelman’s Syndrome (Afsa) and mother of a thirty-year-old touched, was able to notice from her pregnancy: “Jean is 31 years old, his sister 28 and his brother 24. First pregnancy was not really serene since Jean was very active and gave a lot of blows, often quite violent. I cannot certify that it was related to the syndrome, although it is true that small Angelman have a neuromuscular weakness, A deficit in psychomotricity and hyperactivity associated with great gestures, but I did not experience this with my other two pregnancies. Tinted, which meant fetal suffering, and John ‘s Apgar was 8/10 after a minute, but nobody alerted me, it was only when my 2 other children were born that I’ Immediately saw a glaring difference: they opened their eyes, were awake … “.
In 8 cases out of 10, these signs are accompanied by an abnormally small cranial perimeter at birth (moderate postnatal microcephaly) and epilepsy beginning early (before 3 years) but of varying intensity.
Evolution of Angelman syndrome
In the 1990s, when no diagnosis was made (it would only be the case in 1996, John’s 13th birthday), Jean’s parents were predicted that he would be bedridden. He is already under Depakine (an antiepileptic) after an abnormal electroencephalogram alerted his neurologist. Denise remembers: “I began to wonder about 6-9 months, when he should have started to sit, and he also handled things very badly.” About 1 year, his pediatrician prescribed physiotherapy for I think it should be lost too, especially since it had good eye contact (which is not the case with autistic people), that it was very smiling and had not yet begun seizures. He made no acquisition of children his age, began to have communication problems, had uncontrolled laughter.
Other signs of alert: the language almost absent (or much reduced) in the Angelman, and the oro-motor apraxia (the drooling). If Denise has long gone mourning for any verbal communication with her son, John’s sessions with the speech therapist have enabled him to formulate certain daily demands through the use of simplified images. Advances in research have resulted in a significant shortening of the diagnosis period, which can even be detected before birth in the event of a family history (although the syndrome is accidental and not hereditary, prenatal screening is proposed).
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Angelman’s syndrome: Treatment
It is now known for about fifteen years that this rare neurogenic disease is due to 4 molecular anomalies at the level of the UBE3A gene carried by the chromosome 15 of the mother; however, there is no treatment to treat patients with this little-known syndrome. One can, of course, treat some symptoms (epileptic seizures with Valium or lack of sleep by melatonin), but for now, the only hope of the entourage lies in an early management, Global and pluridisciplinary of the patient: psychomotricity, kinesiotherapy, speech therapy, educational accompaniment … An Angelman requires constant accompaniment whatever his age. Denise knows something about it: “In the institute of functional rehabilitation where he learned to walk, Jean developed hyperactivity and was very difficult to manage on a daily basis. At home, he slept only a few hours a night, In the IME (medical-educational institute) for deep intellectual defectives where he later entered, it was not much stimulated, there was no support, nothing was proposed had to organize all ourselves outside: speech therapy, physiotherapy”.