Borderline personality disorder (BPD) is characterized by severe difficulties in interpersonal relationships and emotional functioning. Theories of BPD suggest that individuals with have heightened sensitivity, increased stress reactivity, problems making sense intentions others. In this study we investigated reactivity its interference social cognition, tested whether any differences are specific for or inherent to disorders general.We 22 patients BPD, 23 Cluster C (CPD), 24 nonpatients on...

In most validity studies on the recently released 338-item MMPI–2 (Butcher, Dahlstrom, Graham, Tellegen, & Kaemmer, 1989 Butcher, J. N., W. G., R., A. and B. 1989. Manual for restandardized Minnesota Multiphasic Personality Inventory: MMPI–2. An administrative interpretive guide, Minneapolis: University of Press. [Google Scholar]) Restructured Form (MMPI–2–RF; Ben-Porath 2008; Tellegen Ben-Porath, 2008), scale scores were derived from 567-item booklet. this study, we evaluated comparability...

Alexithymia refers to an ineffective regulation and expression of emotions. It constitutes a major risk factor for range medical psychiatric problems, including chronic pain, somatisation, anxiety depression. is multi-faceted concept, described in terms cognitive affective aspects. From neuropsychological perspective, alexithymia can be defined as disturbance information processing social cognition. As the growing literature on brain structures involved fragmented sometimes even...

Abstract: The 22q13.3 deletion, or Phelan-McDermid syndrome, is characterized by global intellectual disability, generalized hypotonia, severely delayed absent speech associated with features of autism spectrum disorder, and minor dysmorphisms. Its behavioral phenotype comprises sleep disturbances, communication deficits, motor perseverations. Data on psychological dysfunctions are so far not available. Previous studies have suggested that the loss one copy gene SH3 multiple ankyrin repeat...

Objective Fluid intelligence (Gf) has been related to executive functioning (EF) in previous studies, and it is also known be correlated with crystallized (Gc). The present study includes representative measures of Gf, Gc, EF frequently used clinical practice examine this Gf–EF relation. It hypothesised that the relation higher than Gc–EF relation, working memory particular (as a measure EF) shows high contribution Method Confirmatory factor analysis was performed on mixed neuropsychiatric...

Abstract Kleefstra syndrome (KS), previously known as the 9q subtelomeric deletion (9qSTDS) is caused by haploinsufficiency of EHMT1 gene. Both a single mutation and 9q34 microdeletions encompassing entire gene can be responsible for this which characterized intellectual disability, hypotonia, typical dysmorphisms, may associated with congenital heart and/or renal defects epilepsy. Its behavioral phenotype has recently been described comprises particular sleep disturbances apathy. In report,...

Detailed neurobehavioural profiles are of major value for specific clinical management, but have remained underexposed in the population with intellectual disabilities (ID). This was traditionally classified based on IQ level only. Rapid advances genetics enable etiology stratification majority patients, which reduces heterogeneity. paper illustrates that can be obtained rare syndromes ID. Our main aim to study (mal)adaptive functioning Kleefstra Syndrome (KS) by comparing and contrasting...

Cognitive difficulties are argued to be common in patients with Noonan syndrome spectrum disorders (NSSDs), but findings based on studies which variants PTPN11 (prevalence ~50%) were overrepresented. The current study, using a structured clinical approach, describes the cognitive phenotype and psychopathology of 100 (aged 6 61 years) nine different gene Ras/MAPK pathway underlying NSSDs (PTPN11n = 61, multiple lentigines n 3, SOS1n 14, KRASn 7, LZTR1n 5, RAF1n 4, SHOC2n 2, CBLn SOS2n 2)....

Levocarnitine is essential for brain functioning and fatty acid metabolism stems largely from dietary sources. The Epsilon-Trimethyllysine Hydroxylase (TMLHE) gene encodes the enzyme N-Trimethyllysine hydroxylase (TMLH) which catalyses first step in biosynthesis of carnitine. Lack TMLH activity associated with developmental delay autistic behaviours described as X-linked recessive autism, type 6 (OMIM#300872). Here, an institutionalized adult male patient intellectual disability, challenging...

Abstract Objective Research on the neuropsychological profile in individuals with Silver-Russell Syndrome (SRS), is scarce. The current study aims to enhance common clinical knowledge of SRS by exploring syndrome related specificities previously described literature and comparing those findings three adults SRS. Methods Literature search intelligence, cognition, psychopathology was carried out. Included articles defined known genetic etiology provided objective measures available within...

Abstract Although Noonan syndrome (NS) is a disorder with relatively high prevalence, virtually no information in adult patients available about the psychological and psychopathological profile. In present clinical report first series of 10 NS from an ongoing project presented. The purpose study to investigate psychopathology, social cognition adaptation as well quality life aged 16 years or more. PTPN11 mutations were six KRAS SOS1 one patient, respectively. two known mutation was found....

Neurosyphilis is caused by dissemination into the central nervous system of Treponema pallidum. Although incidence syphilis in Netherlands has declined since mid-1980s, re-emerged, mainly urban centres. It not known whether this also holds true for neurosyphilis.The epidemiology neurosyphilis Dutch general hospitals period 1999-2010 was studied a retrospective cohort study. Data from sexually transmitted infection (STI) clinics were used to analyse number patients diagnosed with period.An...

Phelan‐ McDermid syndrome presents with specific deficits in neurocognition, cerebellar regulatory functioning and enhanced vulnerability for the development of atypical bipolar disorder.

For 30 years, Phelan and co-workers described a syndrome characterised by neonatal hypotonia, global developmental delay, strongly impaired speech, sleep disturbances hyperreactivity to sensory stimuli. This Phelan-McDermid (PMS), also presenting with symptoms from the autism spectrum higher risk of developing seizure disorders, may be caused deletion chromosome 22q13 or mutation in SHANK3 gene. Its core psychopathological phenotype comprises bipolar for which generally treatment...

Noonan syndrome (NS) is a common genetic disorder, characterized by short stature, facial dysmorphia, congenital heart defects and mildly lowered IQ. Impairments in psychosocial functioning have often been suggested, without, however, systematic investigation clinical group. In this study, different aspects of affective processing, social cognition behaviour, addition to personal well-being, were assessed large group patients with NS.Forty adult NS compared 40 healthy controls, matched...

Accessible summary Decision making by nurses on seclusion of severely disturbed and aggressive patients is a complex process; the relative importance patient, professional facility factors unclear. In vignette study, psychiatric were asked to indicate what extent they would or not decide seclude an imaginary patient. The (im)possibility communicate with as well concerning availability cooperation staff, proved be at least important ‘pure’ patient characteristics diagnosis, history severity...

Social cognitive deficits are common in neuropsychiatric disorders. Given the proximity of social cognition (SC) to everyday functioning, many intervention studies (including targeted, comprehensive, and broad-based approaches) have focussed on SC. The aim this paper was quantitatively meta-analyse efficacy SC interventions adult patients. Databases Pubmed, PsycINFO, Web Knowledge, Embase were searched for controlled published between 01-01-2003 01-01-2016. Forty-one studies, comprising...

Abstract Intellectual disability is frequently accompanied by psychiatric symptoms that require pharmacological interventions. Treatment guidelines often provide a general treatment approach for these in intellectual disability. However, this may not always be the best strategy, as illustrated here Kleefstra syndrome. We present 3 patients showing severe regression after sleep disturbances. If are treated with care usual (eg, behavioral programs and medication) deterioration likely to...

The current paper introduces concise neuropsychological assessment as an essential tool for studying the contribution of cognition and behavior in expression genetic syndromes, like Noonan syndrome (NS). Cognitive behavioral findings NS show intelligence scores across a wide range, with mildly lowered average level. Language motor development are often delayed, but no longer dysfunctional adulthood. Continuing mild problems selective sustained attention noted, well suboptimal organization...