The clinical spectrum of stereotypies in frontotemporal lobar degeneration

We clinically assessed patients meeting international criteria for frontotemporal lobar degeneration (FTLD) for the presence and characteristics of stereotypies. Of 32 subjects with FTLD (50% women), 19 (60%) had stereotypies. The majority of patients with stereotypies were female (68%). The median age of symptom onset suggestive of FTLD was 58 years (range: 37–74), with a mean time to stereotypy onset of 2.1 years. In all cases, the stereotypies were simple. There were no differences in the age of FTLD onset, functional imaging results, neuropsychological test scores or frequency of mood disorders or psychoses between those with and without stereotypical movements. However, compulsive behavior was noted more often in those with stereotypies (58% vs. 15%, P = 0.02). Of the 19 patients with stereotypies, three had vocal stereotypies, and three had both vocal and motor stereotypies. Of the 16 subjects with motor stereotypies, 9(56%) were appendicular and 7 (44%) were craniocervical. © 2009 Movement Disorder Society     

Depressed mood and executive dysfunction in early Parkinson's disease

OBJECTIVES: Studies on neuropsychological functions in early Parkinson's disease (PD) have reported changes with respect to memory and executive control related to dysfunction of fronto-striatal circuitry. The question has been raised, however, whether these findings are at least partly influenced by depression, which as such can also lead to cognitive impairments that depend on the functional integrity of the prefrontal cortex. MATERIAL AND METHODS: In the present investigation early non-depressed PD patients (NPD), early PD patients with mild depressive symptoms (DPD), patients with primary depression (DEP) and healthy controls (HC) completed a range of neuropsychological tests. RESULTS: Group comparisons revealed impairments of DPD patients in comparison with HC with respect to verbal fluency, short-term memory and concept formation. In addition they showed mild working-memory deficits. CONCLUSIONS: In summary the present results indicate that depressed mood in early PD may exacerbate cognitive impairments. Thus careful assessment of affective variables in PD should be an integral part of the treatment of PD.     

Retrospective self-reports of childhood accidents causing unconsciousness in phallometrically diagnosed pedophiles

The present study investigated whether head injuries in childhood might increase the risk of pedophilia in males. The subjects were 1206 patients referred to a clinical sexology service for assessment of their erotic preferences. These were classified, on the basis of phallometric test results, as pedophilic (n = 413) or nonpedophilic (n = 793). Information regarding early head injuries, other signs of possible neurodevelopmental problems, and parental histories of psychiatric treatment were collected with self-administered questionnaires. The results showed that childhood accidents that resulted in unconsciousness were associated with pedophilia and with lower levels of intelligence and education. These associations were statistically significant for accidents that occurred before the age of 6, but not for accidents that occurred between the ages of 6 and 12. These results are compatible with the hypothesis that neurodevelopmental perturbations in early childhood may increase the risk of pedophilia. They are also, however, compatible with the alternative explanation that prior neurodevelopmental problems lead to accident-proneness and head injury, on the one hand, and to pedophilia, on the other, and that head injury has no causal influence on pedophilia. A secondary finding was that the pedophiles were more likely to report that their mothers had undergone psychiatric treatment. This finding suggests that pedophilia may be influenced by genetic factors, which are manifested in women as an increased risk of psychiatric problems, and in their sons, as an increased risk of erotic interest in children.     

School and neuropsychological performance of evacuated children in Kyiv 11 years after the Chornobyl disaster

This paper examines the cognitive and neuropsychological functioning of children who were in utero to age 15 months at the time of the Chornobyl disaster and were evacuated to Kyiv from the 30-kilometer zone surrounding the plant. Specifically, we compared 300 evacuee children at ages 10-12 with 300 non-evacuee Kyiv classmates on objective and subjective measures of attention, memory, and school performance. The evacuee children were not significantly different from their classmates on the objective measures (grades; Symbolic Relations subtest of the Detroit Test; forms 1 and 2 of the Visual Search and Attention Test; Benton Form A; Trails A; Underline the Words Test) or on most of the subjective measures (the attention subscale of the Child Behavior Checklist completed by mothers; the attention items of the Iowa Conners Teacher's Rating Scale; mother and child perceptions of school performance). The one exception was that 31.3% of evacuee mothers compared to 7.4% of classmate mothers indicated that their child had a memory problem. However, this subjective measure of memory problems was not significantly related to neuropsychological or school performance. No significant differences were found in comparisons of evacuees and classmates who were in utero at the time of the explosion, children from Pripyat vs. other villages in the 30-kilometer zone, and children manifesting greater generalized anxiety. For both groups, children with greater Chornobyl-focused anxiety performed significantly worse than children with less Chornobyl-focused anxiety on measures of attention. The results thus fail to confirm two previous reports that relatively more children from areas contaminated by radiation had cognitive deficits compared to controls. Possible reasons for the differences in findings among the studies are discussed.     

Local and global processing of music in high-functioning persons with autism: beyond central coherence?

A multi-modal abnormality in the integration of parts and whole has been proposed to account for a bias toward local stimuli in individuals with autism (Frith, 1989; Mottron & Belleville, 1993). In the current experiment, we examined the utility of hierarchical models in characterising musical information processing in autistic individuals. Participants were 13 high-functioning individuals with autism and 13 individuals of normal intelligence matched on chronological age, nonverbal IQ, and laterality, and without musical experience. The task consisted of same-different judgements of pairs of melodies. Differential local and global processing was assessed by manipulating the level, local or global, at which modifications occurred. No deficit was found in the two measures of global processing. In contrast, the clinical group performed better than the comparison group in the detection of change in nontransposed, contour-preserved melodies that tap local processing. These findings confirm the existence of a "local bias" in music perception in individuals with autism, but challenge the notion that it is accounted for by a deficit in global music processing. The present study suggests that enhanced processing of elementary physical properties of incoming stimuli, as found previously in the visual modality, may also exist in the auditory modality.     

Facial surface analysis by 3D laser scanning and geometric morphometrics in relation to sexual dimorphism in cerebral--craniofacial morphogenesis and cognitive function

Over early fetal life the anterior brain, neuroepithelium, neural crest and facial ectoderm constitute a unitary, three-dimensional (3D) developmental process. This intimate embryological relationship between the face and brain means that facial dysmorphogenesis can serve as an accessible and informative index of brain dysmorphogenesis in neurological and psychiatric disorders of early developmental origin. There are three principal challenges in seeking to increase understanding of disorders of early brain dysmorphogenesis through craniofacial dysmorphogenesis: (i) the first, technical, challenge has been to digitize the facial surface in its inherent three-dimensionality; (ii) the second, analytical, challenge has been to develop methodologies for extracting biologically meaningful shape covariance from digitized samples, making statistical comparisons between groups and visualizing in 3D the resultant statistical models on a 'whole face' basis; (iii) the third, biological, challenge is to demonstrate a relationship between facial morphogenesis and brain morphogenesis not only in anatomical-embryological terms but also at the level of brain function. Here we consider each of these challenges in turn and then illustrate the issues by way of our own findings. These use human sexual dimorphism as an exemplar for 3D laser surface scanning of facial shape, analysis using geometric morphometrics and exploration of cognitive correlates of variation in shape of the 'whole face', in the context of studies relating to the early developmental origins of schizophrenia.     

Are endophenotypes based on measures of executive functions useful for molecular genetic studies of ADHD?

BACKGROUND: Behavioral genetic studies provide strong evidence that attention-deficit/hyperactivity disorder (ADHD) has a substantial genetic component. Yet, due to the complexity of the ADHD phenotype, questions remain as to the specific genes that contribute to this condition as well as the pathways from genes to behavior. Endophenotypes, or phenotypes that are more closely linked to the neurobiological substrate of a disorder, offer the potential to address these two issues simultaneously (Freedman, Adler, & Leonard, 1999). Thus far, potential endophenotypes for ADHD have not been systematically studied. METHOD: The current paper reviews evidence supporting the use of deficits on neurocognitive measures of executive functions for this purpose. RESULTS: Such deficits are a correlate of ADHD and show preliminary evidence of heritability and association with relevant candidate genes. Nonetheless, studies that have assessed the familial and genetic overlap of neurocognitive impairments with ADHD have yielded inconsistent results. CONCLUSIONS: In order for executive function deficits to be used as an endophenotype for ADHD, we recommend greater attention to the neurocognitive heterogeneity of this disorder and to the precision of measurement of the neuropsychological tests employed. We also discuss empirical strategies that may be necessary to allow such research to progress prior to full resolution of the pathophysiological basis of ADHD.     

Processing of affective stimuli in alcoholism

Investigations of neuropsychological functioning in alcoholism have revealed executive and memory deficits which have been interpreted in the light of the "frontal lobe hypothesis" which asserts that the frontal lobes are particularly vulnerable to the toxic effects of alcohol. Inspite of the known involvement of the orbitofrontal cortex in the processing of affective stimuli, only few studies concerning affective processing in alcoholism have been conducted so far. Alcoholics and healthy controls were compared by using a comprehensive neuropsychological test battery which included the measurement of facial affect as well as affective prosody perception. Analysis revealed impairments of alcoholics with respect to naming prosody with incongruent semantic content and matching affective prosody to facial expression. Alcoholics showed deficits of affective prosody processing which became evident in ambiguous situations in which no additional cues could be used simultaneously for the interpretation of emotional prosody. These deficits could contribute to interpersonal problem solving and should thus be considered in the therapy of alcoholism.