A Case of Partial Biotinidase Deficiency Associated With Autism

We report the case of a child with partial biotinidase deficiency and autistic developmental disorder. We arrived at the diagnosis of biotinidase deficiency when the child was almost 4 years of age. Consequently, he began cofactor biotin treatment (10 mg daily) which did not resolve his autistic behavior. His younger brother was affected by partial biotinidase deficiency diagnosed at birth through our neonatal screening program. He was precociously treated with cofactor biotin therapy (10 mg daily) and did not show any behavioral abnormality or developmental delay. Since the brain is quite vulnerable to biotin deficiency, delayed biotin therapy could result in neurological damage. Our patient is the first case of partial biotinidase deficiency associated with autism. We hypothesize that the low biotinidase activity could have caused biotin deficiency in his brain and cerebrospinal fluids and consequently serious neurological problems, such as stereotyped and autistic behaviors, which were irreversible in spite of biotin supplementation.     

Where Can I Find Consolation? A Theoretical Analysis of the Meaning of Consolation as Experienced by Job in the Book of Job in the Hebrew Bible

The aim of the study was to explore the meaning of consolation as experienced by Job in the Book of Job and as presented in literature and how consolation relates to suffering and care. The study’s theoretical design applied Ricoeur’s view on phenomenology and hermeneutics. The resulting themes were as follows: consolation that is present, that originates in confrontation, that keeps suffering at a distance, that does not alleviate suffering, that originates in experience from giving comfort, and that facilitates a change of perspective. The authentic and caring consolation accepts the sufferer’s incomprehensible “otherness” but however provides no answers about how to console.     

Substitution effects in a generalized token economy with pigeons

Pigeons made repeated choices between earning and exchanging reinforcer‐specific tokens (green tokens exchangeable for food, red tokens exchangeable for water) and reinforcer‐general tokens (white tokens exchangeable for food or water) in a closed token economy. Food and green food tokens could be earned on one panel; water and red water tokens could be earned on a second panel; white generalized tokens could be earned on either panel. Responses on one key produced tokens according to a fixed‐ratio schedule, whereas responses on a second key produced exchange periods, during which all previously earned tokens could be exchanged for the appropriate commodity. Most conditions were conducted in a closed economy, and pigeons distributed their token allocation in ways that permitted food and water consumption. When the price of all tokens was equal and low, most pigeons preferred the generalized tokens. When token‐production prices were manipulated, pigeons reduced production of the tokens that increased in price while increasing production of the generalized tokens that remained at a fixed price. The latter is consistent with a substitution effect: Generalized tokens increased and were exchanged for the more expensive reinforcer. When food and water were made freely available outside the session, token production and exchange was sharply reduced but was not eliminated, even in conditions when it no longer produced tokens. The results join with other recent data in showing sustained generalized functions of token reinforcers, and demonstrate the utility of token‐economic methods for assessing demand for and substitution among multiple commodities in a laboratory context.     

Disinhibitory trait profile and its relation to Cluster B personality disorder features and substance use problems

Certain personality and motivational traits may present vulnerability towards disinhibitory psychopathology (e.g. antisocial personality disorder, substance abuse). Cluster analysis was used to separately group 306 women and 274 men on impulsivity, Constraint, Negative Emotionality, behavioural activation system (BAS), and behavioural inhibition system (BIS) scores. As expected, a ‘disinhibited’ group with low Constraint, high impulsivity, weak BIS, and strong BAS emerged that showed elevated drug use problems, and histrionic and antisocial personality disorder features across gender. A ‘high affectivity’ group with high Negative Emotionality and strong BIS also showed elevated drug use problems and personality disorder features. Results suggested that two different trait profiles are associated with disinhibitory psychopathology and both may present vulnerability toward the development of such disorders. Copyright © 2006 John Wiley & Sons, Ltd.     

Defining Compulsive Behavior

Neuropsychology Review - Compulsive tendencies are a central feature of problematic human behavior and thereby are of great interest to the scientific and clinical community. However, no consensus...     

Effects of male postpartum depression on father–infant interaction: The mediating role of face processing

It is estimated that postpartum depression affects up to 25% of men. Despite such high prevalence, the majority of studies on postpartum depression are focused on mothers, and the role of paternal depression and its effects on infant development have been overlooked by researchers and clinicians. The present study aimed to fill this gap by investigating the effect of paternal postpartum depression on father–infant interactions. In addition, we examined whether differences in face recognition mediated the effects of paternal postpartum depression on father–infant interactions. A total of 61 father–infant dyads (17 postpartum depression, 44 controls) took part in the study. Results revealed that compared to controls, fathers with postpartum depression had a worse pattern of interaction with their infants on measures of responsiveness, mood, and sensitivity; they also had greater difficulty in recognizing happy adult faces, but greater facility in recognizing sad adult faces. Depressed fathers attributed greater intensities to sad adult and infant faces. The tendency to attribute greater intensity to sad adult faces was confirmed as a partial mediator of the effect of paternal postpartum depression on measures of father responsiveness and as a full mediator of the effects of paternal depression on father sensitivity. Clinical implications and suggestions for further studies are discussed.     

A case of partial biotinidase deficiency associated with autism.

We report the case of a child with partial biotinidase deficiency and autistic developmental disorder. We arrived at the diagnosis of biotinidase deficiency when the child was almost 4 years of age. Consequently, he began cofactor biotin treatment (10 mg daily) which did not resolve his autistic behavior. His younger brother was affected by partial biotinidase deficiency diagnosed at birth through our neonatal screening program. He was precociously treated with cofactor biotin therapy (10 mg daily) and did not show any behavioral abnormality or developmental delay. Since the brain is quite vulnerable to biotin deficiency, delayed biotin therapy could result in neurological damage. Our patient is the first case of partial biotinidase deficiency associated with autism. We hypothesize that the low biotinidase activity could have caused biotin deficiency in his brain and cerebrospinal fluids and consequently serious neurological problems, such as stereotyped and autistic behaviors, which were irreversible in spite of biotin supplementation.     

Learning to Attend and to Ignore Is a Matter of Gains and Losses

ABSTRACT— Efficient goal-directed behavior in a crowded world is crucially mediated by visual selective attention (VSA), which regulates deployment of cognitive resources toward selected, behaviorally relevant visual objects. Acting as a filter on perceptual representations, VSA allows preferential processing of relevant objects and concurrently inhibits traces of irrelevant items, thus preventing harmful distraction. Recent evidence showed that monetary rewards for performance on VSA tasks strongly affect immediately subsequent deployment of attention; a typical aftereffect of VSA (negative priming) was found only following highly rewarded selections. Here we report a much more striking demonstration that the controlled delivery of monetary rewards also affects attentional processing several days later. Thus, the propensity to select or to ignore specific visual objects appears to be strongly biased by the more or less rewarding consequences of past attentional encounters with the same objects.     

Study effort versus distinctiveness in the recollection of veridical and illusory memories

In past research, stimulus distinctiveness and study effort have been claimed to promote the development of distinctive memories, which in turn have been considered critical for enhancing veridical recollection and reducing illusory memory experiences. In the present investigation, stimulus distinctiveness, obtained by displaying text-redundant pictorial information at study, was pitted against study effort to determine whether either factor would be more beneficial to veridical recall and more detrimental to illusory recall than the other. Subjects first completed word fragments with or without the aid of an image of each word’s referent and then performed a recall test. It was found that when images were useful to the encoding task (fragment completion), their presence at study enhanced veridical recall and reduced illusory memories more than any additional encoding effort.