Neuropsychological and Behavioral Aspects of Noonan Syndrome
نویسندگان
چکیده
منابع مشابه
Neuropsychological and behavioral aspects of Noonan syndrome.
The current paper introduces concise neuropsychological assessment as an essential tool for studying the contribution of cognition and behavior in the expression of genetic syndromes, like Noonan syndrome (NS). Cognitive and behavioral findings in NS show intelligence scores across a wide range, with a mildly lowered average level. Language and motor development are often delayed, but no longer...
متن کاملNoonan syndrome: clinical aspects and molecular pathogenesis.
Noonan syndrome (NS) is a relatively common, clinically variable and genetically heterogeneous developmental disorder characterized by postnatally reduced growth, distinctive facial dysmorphism, cardiac defects and variable cognitive deficits. Other associated features include ectodermal and skeletal defects, cryptorchidism, lymphatic dysplasias, bleeding tendency, and, rarely, predisposition t...
متن کاملNeuropsychological aspects of Tourette syndrome: a review.
Tourette syndrome (TS) is assumed to result from frontostriatal dysfunction, which would be expected to result in impairments in neuropsychological functions. This possibility has been explored in a number of studies that have assessed the performance of patients with TS within major cognitive domains and on tests involving executive functioning. We aim to summarize the main findings of these s...
متن کاملNoonan syndrome.
Noonan syndrome is a common autosomal dominant condition caused by multiple genes in the RasMAPK pathway. The adult phenotype can be extremely subtle, and many adults are diagnosed only after the birth of a more obviously affected child. Whether diagnosis is made in childhood or adulthood, initial and ongoing evaluation of many systems can have considerable health benefits.
متن کاملNoonan syndrome
Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associa...
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ژورنال
عنوان ژورنال: Hormone Research
سال: 2009
ISSN: 1423-0046,0301-0163
DOI: 10.1159/000243774