Neuropsychological and Behavioral Aspects of Noonan Syndrome

Abstract: 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

The Interplay Between Attentional Strategies and Language Processing in High-functioning Adults with Autism Spectrum Disorder

This study examined the hypothesis of an atypical interaction between attention and language in ASD. A dual-task experiment with three conditions was designed, in which sentences were presented that contained errors requiring attentional focus either at (a) low level, or (b) high level, or (c) both levels of language. Speed and accuracy for error detection were measured from 16 high-functioning adults with ASD, and 16 matched controls. For controls, there was an attentional cost of dual level processing for low level performance but not for high level performance. For participants with ASD, there was an attentional cost both for low level and for high level performance. These results suggest a compensatory strategic use of attention during language processing in ASD

Dutch translation and adaptation of the Barkley Deficits in Executive Functioning Scale (BDEFS)

Background: Based on his model of self-regulation and executive functions, Barkley developed a self- and other-report questionnaire (the Barkley Deficits in Executive Functioning Scale – BDEFS). The BDEFS measures deficits in executive functions as expressed in daily life activities like self-management of time, self-organization, self-restraint, self-motivation, and self-regulation of emotion. Objectives: This study created and analyzed a Dutch translation and adaptation in conformance with official guidelines. Methods: The Dutch and English BDEFS were completed by 25 bilingual Dutch adults to evaluate semantic correspondence. Consequently, 60 Dutch participants completed the Dutch BDEFS, Barratt Impulsiveness Scale-Eleventh edition (BIS-11) and the Dysexecutive Questionnaire (DEX) to evaluate concurrent validity and internal consistency. Results: The versions demonstrated sufficient semantic equivalence and Spearman’s rho of total scores was high; items mostly showed moderate-to-high correlations. Regression analysis showed no proportional bias. Internal consistency was also high. Correlations between BDEFS, BIS-11 and DEX supported concurrent validity. Discussion: We conclude that a successful BDEFS translation and adaptation was created with satisfactory reliability and validity. Further research should assess the utility of the BDEFS in Dutch clinical practice

Manganese and acute paranoid psychosis: a case report

Contains fulltext : 103167.pdf (publisher's version ) (Open Access)Introduction Manganese regulates many enzymes and is essential for normal development and body function. Chronic manganese intoxication has an insidious and progressive course and usually starts with complaints of headache, fatigue, sleep disturbances, irritability and emotional instability. Later, several organ systems may be affected and, due to neurotoxicity, an atypical parkinsonian syndrome may emerge. With regard to neuropsychiatry, an array of symptoms may develop up to 30 years after intoxication, of which gait and speech abnormalities, cognitive and motor slowing, mood changes and hallucinations are the most common. Psychotic phenomena are rarely reported. Case presentation We describe the case of a 49-year-old Caucasian man working as a welder who was referred to our facility for evaluation of acute paranoid psychotic behavior. Our patient's medical history made no mention of any somatic complaints or psychiatric symptoms, and he had been involved in a professional career as a metalworker. On magnetic resonance imaging scanning of his brain, a bilateral hyperdensity of the globus pallidus, suggestive for manganese intoxication, was found. His manganese serum level was 52 to 97 nmol/L (range: 7 to 20 nmol/L). A diagnosis of organic psychotic disorder due to manganese overexposure was made. His psychotic symptoms disappeared within two weeks of treatment with low-dose risperidone. At three months later, serum manganese was decreased to slightly elevated levels and the magnetic resonance imaging T1 signal intensity was reduced. No signs of Parkinsonism were found and a definite diagnosis of manganese-induced apathy syndrome was made. Conclusion Although neuropsychiatric and neurological symptoms caused by (chronic) manganese exposure have been reported frequently in the past, in the present day the disorder is rarely diagnosed. In this report we stress that manganese intoxication can still occur, in our case in a confined-space welder, and may present clinically with a paranoid psychotic state that necessitates a rapid diagnostic procedure in order to avoid the permanent structural brain damage that may occur with chronic exposure.4 p

Intellectual Profiles in KBG-Syndrome: A Wechsler Based Case-Control Study

KBG syndrome is a neurodevelopmental disorder (NDD) caused by loss-of-function of the ANKRD11 gene. The core phenotype comprises developmental delay (DD)/ intellectual disability (ID) and several specific facial dysmorphisms. In addition, both ADHD- and ASD-related symptoms have been mentioned. For the correct understanding of these developmental and behavioral characteristics however, it is of great importance to apply objective measures, which seldom has been done in patients with KBG syndrome. In this study, intelligence profiles of patients with KBG syndrome (n = 18) were compared with a control group comprising patients with NDD caused by various other genetic defects (n = 17), by means of the Wechsler scales. These scales were also used to measure speed of information processing, working memory, verbal comprehension and perceptual reasoning. No significant differences were found in the global level of intelligence of patients with KBG syndrome as compared to the patient genetic control group. The same was true for Wechsler subtest results. Hence, behavioral problems associated with KBG syndrome cannot directly be related to or explained by a specific intelligence profile. Instead, specific assessment of neurocognitive functions should be performed to clarify the putative behavioral problems as observed in this syndrome

Adult male patient with severe intellectual disability caused by a homozygous mutation in the HNMT gene

Genetics of disease, diagnosis and treatmen

The MMPI-2-Restructured Form and the Standard MMPI-2 Clinical Scales in Relation to DSM-IV

. Overall, the H-O scales, RC scales, and Specific Problem scales display meaningful relationships to Axis I and Axis II disorders conceptualized by the DSM-IV. In addition, the RC scales demonstrate a moderate improvement in validity over the standard Clinical scales. Theoretical and clinical implications are considered

The influence of stress on social cognition in patients with borderline personality disorder

Borderline personality disorder (BPD) is characterized by severe difficulties in interpersonal relationships and emotional functioning. Theories of BPD suggest that individuals with BPD have heightened emotional sensitivity, increased stress reactivity, and problems in making sense of intentions of others. In this study we investigated stress reactivity in BPD and its interference with social cognition, and tested whether any differences are specific for BPD or are inherent to personality disorders in general. We investigated 22 patients with BPD, 23 patients with Cluster C personality disorder (CPD), and 24 nonpatients on facial emotion recognition and social evaluation before and after stress induction based on the Trier Social Stress Test (TSST). The results show that stress increased subjective negative emotions in the BPD group to a larger extent than in the other groups, whereas physiological responses were attenuated. Importantly stress induction increased negative evaluations about others, but surprisingly to a similar extent in the BPD and CPD groups as in the nonpatient control group. In addition facial emotion recognition performance was higher after than before stress, but no significant group differences were observed. These results suggest that heightened psychological reactivity in BPD co-occurs with attenuated physiological responses to psychosocial stress and that stress affects social cognition to a similar extent in BPD as in other

Cerebellar Cognitive Affective Syndrome and Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay:A Report of Two Male Sibs

Item does not contain fulltextBackground: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare neurodegenerative disorder caused by mutations in the SACS gene (13q12) encoding the protein sacsin. It is characterized by early-onset cerebellar ataxia, lower limb spasticity, sensorimotor axonal polyneuropathy, and atrophy of the superior cerebellar vermis. Cerebellar disorders in general may be accompanied by the cerebellar cognitive affective syndrome (CCAS) which presents with disturbances of executive functioning, spatial cognition, linguistic capacities, and affect. Sampling and Methods: Two middle-aged brothers with ARSACS, one of whom was referred for behavioral disinhibition, are described. A detailed neuropsychiatric and neuropsychological assessment was performed. Results: Apart from motor symptoms, motivational deficits along with cognitive and behavioral dysfunctions were present; these were much more pronounced in the older sib. Conclusions: These observations add to the literature which suggests that the cerebellum, apart from its significance for motor behavior, plays a functional role in human cognition and affect. The nonmotor symptoms of ARSACS are discussed in terms of the CCAS.7 p