Cognitive and behavioral heterogeneity in genetic syndromes
نویسندگان
چکیده
منابع مشابه
Cognitive and behavioral heterogeneity in genetic syndromes.
OBJECTIVE this study aimed to investigate the cognitive and behavioral profiles, as well as the psychiatric symptoms and disorders in children with three different genetic syndromes with similar sociocultural and socioeconomic backgrounds. METHODS thirty-four children aged 6 to 16 years, with Williams-Beuren syndrome (n=10), Prader-Willi syndrome (n=11), and Fragile X syndrome (n=13) from the...
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Behavioral syndromes are widely recognized as important for ecology and evolution, but most predictions about ecological impacts are based on conceptual models and are therefore imprecise. Borrowing insights from the theory of demographic heterogeneity, we derived insights about the population-dynamic effects of behavioral syndromes. If some individuals are consistently more aggressive than oth...
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Congenital myasthenic syndromes (CMS) are a rare heterogeneous group of inherited neuromuscular disorders associated with distinctive clinical, electrophysiological, ultrastructural and genetic abnormalities. These genetic defects either impair neuromuscular transmission directly or result in secondary impairments, which eventually compromise the safety margin of neuromuscular transmission. In ...
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Introduction Identification of genes causing inherited cystic kidney diseases has triggered a major interest for the concept of ‘ciliopathies’. Indeed, almost all of the proteins involved in human renal cystic diseases are expressed in the primary cilium complex located in renal epithelial cells. Primary cilia are cellular extensions containing a microtubulebased axoneme covered by a specialize...
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ژورنال
عنوان ژورنال: Jornal de Pediatria
سال: 2014
ISSN: 0021-7557
DOI: 10.1016/j.jped.2013.06.010