Avtor/Urednik		Prica, Nada; Golubović, Slavica
Naslov		Angelmanov sindrom - prikaz slučaja
Prevedeni naslov		The Angelman's syndrome - a review of the case
Tip		članek
Vir		In: Čepeljnik J, Globačnik B, Grobler M, et al, editors. Logopedija za vsa življenska obdobja. Zbornik 1. slovenski kongres logopedov z mednarodno udeležbo; 2003 mar 19-21; Bled. Ljubljana: Zavod za gluhe in naglušne,
Leto izdaje		2003
Obseg		str. 227-9
Jezik		ser
Abstrakt		Angelman syndrome (Happy puppet syndrome) is neurogenic distrubances which is characterised by severe psychomotorretardation, absentspeech (alogia) orspeech lirnited to less than six words, happy disposition with bursts of laughter, jerky movements with an ataxic gait if the patient is walking, convulsiones (abnormal EEGJ, epilepsy and some distinct physical anomalies (dysmorphic craniofacial features : brachycephaly, mid-facial hypoplasia, deep set eyes, macrostomia, prominent mandible. About 60% of patients have delation of chromozome 15q 11-13. Rew of the case: In this paper is presented a boy age 16 years, with microcephalia, micro anomalies of face, happy disposition with bursts of laughter and paresis lower limb and leg, epilepsy, deficits of perceptions, speech production and comprehensions (alogia). Others are as delayed growth of head circumference. Associated characteristics are flat occiput, protruding tongue, prognathia, wide mouth, strabismus, hyperactive lower limb deep tendon reflxes, uplifted flexed arm position especially during ambulation.
Deskriptorji		ANGELMAN SYNDROME LANGUAGE DISORDERS ADOLESCENCE