Language Development in Rare Disease: Angelman Syndrome Vs Prader- Willi Syndrome
نویسندگان
چکیده
منابع مشابه
Prader-Willi syndrome and Angelman syndrome.
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two distinct neurogenetic disorders in which imprinted genes on the proximal long arm of chromosome 15 are affected. Although the SNORD116 gene cluster has become a prime candidate for PWS, it cannot be excluded that other paternally expressed genes in the chromosomal region 15q11q13 contribute to the full phenotype. AS is caused by a d...
متن کاملPrader-Willi Syndrome
Prader-Willi syndrome is a neurogenetic disorder characterized by hypotonia and feeding difficulties in infancy, followed by hyperphagia, hypogonadism, mental retardation, and short stature. It was the first recognized microdeletion syndrome identified with high-resolution chromosome analysis, the first recognized human genomic imprinting disorder, and the first recognized disorder resulting fr...
متن کاملPrader ^Willi Syndrome: Development and Manifestations
One finding from the Cambridge Prader– Willi syndrome (PWS) studies, summarised in this book, seems to be worthy of attention from psychiatrists in all specialties. It is that PWS caused by maternal uniparental disomy (inheritance of two chromosome 15s from the mother and none from the father) is associated with a prevalence of psychotic disorder that rises so steeply in early adult life that i...
متن کاملPrader-Willi syndrome.
Prader-Willi syndrome is a multi system disorder characterized by neonatal hypotonia, later obesity, hyperphagia and mental retardation. It occurs sporadically, either as a result of microdeletion of chromosome 15p (70%) or as a result of maternal disomy of chromosome 15 (30%). The major problems encountered by parents are those of hyperphagia, food-seeking and obesity, and conduct disorder, pa...
متن کاملPrader-willi Syndrome
Prader–Willi syndrome (PWS) is a genetic disorder due to loss of function of specific genes on chromosome 15. It occurs in males and females, no matter what race. As an infant, PWS shows itself in weak muscle tone (hypotonia, Pic. 1), feeding difficulties, poor growth, and delayed development. In the beginning during childhood, characterizes itself by having the kids develop an insatiable appet...
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ژورنال
عنوان ژورنال: Global journal of intellectual & developmental disabilities
سال: 2021
ISSN: ['2575-8586']
DOI: https://doi.org/10.19080/gjidd.2021.08.555749