Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029713 (immaturity)
 4,335 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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 dysfunctional in adulthood. Continuing mild problems in selective and sustained attention are noted, as well as suboptimal organization skills and compromised abilities to structure complex information. These problems seem to culminate in learning difficulties, requiring attention for special needs in education. It seems that a complex of psychosocial immaturity, alexithymia and amenable traits is typical of NS patients. Consequently, psychopathology or psychological problems in leading a self-serving life may often remain underreported. This is why the authors advocate the integration of the domain of social cognition and personality in NS assessment.
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PMID:Neuropsychological and behavioral aspects of Noonan syndrome. 2002 32

Aim: Polycystic ovary syndrome (PCOS) is a common endocrine-metabolic disorder. It affects women's physical well-being and leads to great psychological distress. Indeed, women with PCOS show a compromised quality of life as well as impaired emotional well-being. The aim of this study is to assess personality characteristics, body image and alexithymia in women with PCOS. Materials and methods: A total of 59 women with PCOS and 38 healthy controls were administered the Toronto Alexithymia Scale (TAS), the Body Uneasiness Test (BUT) and the Minnesota Multiphasic Personality Inventory-2 (MMPI-2). Results: The PCOS group showed higher values of alexithymia and a higher body uneasiness. They also showed higher values on many clinical, content and supplementary scales of the MMPI-2. Discussion: It seems that physical appearance and bodily function have a central place in the minds of women with PCOS, as well as in their relationships. However, it is a body they find it hard to feel and with which they mostly feel uncomfortable. Their approach to the outside world seems to be characterized by a certain degree of immaturity, anger, hostility and distrust. Low self-esteem also seems to be connected to a certain tendency toward introversion and withdrawal. This leads to problems in social, professional and intimate relationships.
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PMID:Body image, personality profiles and alexithymia in patients with polycystic ovary syndrome (PCOS). 3039 5