1. Lepisto T, Kuitunen A, Sussman E, Saalasti S, Jansson-Verkasalo E, Wendt TN, Kujala T. {{Auditory stream segregation in children with Asperger syndrome}}. {Biol Psychol};2009 (Sep 11)

Individuals with Asperger syndrome (AS) often have difficulties in perceiving speech in noisy environments. The present study investigated whether this might be explained by deficient auditory stream segregation ability, that is, by a more basic difficulty in separating simultaneous sound sources from each other. To this end, auditory event-related brain potentials were recorded from a group of school-aged children with AS and a group of age-matched controls using a paradigm specifically developed for studying stream segregation. Differences in the amplitudes of ERP components were found between groups only in the stream segregation conditions and not for simple feature discrimination. The results indicated that children with AS have difficulties in segregating concurrent sound streams, which ultimately may contribute to the difficulties in speech-in-noise perception.

2. Montalbano R, Roccella M. {{The quality of life of children with pervasive developmental disorders}}. {Minerva Pediatr};2009 (Aug);61(4):361-370.

AIM: Quality of life is increasingly the focus of attention by health, psychological and social services. Pervasive developmental disorders (PDD) are a group of psychiatric conditions in which the patient’s clinical case history is characterized by disturbances in social interaction, deterioration of verbal and non-verbal communication, and presence of bizarre, limited and stereotyped activity. These disturbances affect multiple developmental areas and show up in very early stages of development, resulting in a permanent disorder. Many studies have sought to recognize causes and interventions for persons with PDD, however, they often take insufficient account of the effects these disorder can have on the lifestyle of patients and their families. These clinical case histories are so pervasive that they cause a disorder which upsets the equilibrium of the person’s entire life. The aim of this study was to assess the effect of living with PDD on the person’s quality of life and to highlight the factors that impact on the person and his/her family. METHODS: Both parents of 54 subjects (46 males and 8 females; age range 4-28 years) with diagnosed PDD (43 with autistic disorder, 2 with childhood disintegrative disorder, 3 with Asperger Syndrome, 6 with pervasive development disorder NAS) were enrolled in the study. The subjects affected with PDD were recruited at the AGSAS Onlus and IsMeC. Diagnosis was based on the criteria of the Diagnostic and Statistical Manual of Mental Disorders. Quality of life was assessed using the Italian version of the Impact of Childhood Illness Scale (Hoare and Russell, 1995). This scale consists of 30 questions that investigate the effect of illness on children, parents and families. For each question, the parent was asked to rate two variables: frequency and importance. Another questionnaire was administered to obtain medical history, diagnostic and therapeutic data of the persons with PDD. RESULTS: Analysis of frequencies and percentages of questionnaire answers showed that the most important problems related to illness; specifically, according to the Frequency and Importance Parameters, the problems centered around self-care skills, difficulty in explaining the child’s illness to others and looking after the child. The most important problems about the other children in the family concerned providing them with necessary attention and the restrictions their brother/sister’s illness placed on their own activities. No significant correlations emerged between diagnosis type and answers on individual subscale items (Pearson’s r). CONCLUSIONS: Our data show that PDD has a considerable impact on both the child’s development and the entire family. Parents’ answers demonstrated that their child’s illness had consequences for the child and how the family coped with it. For this reason, attention should be directed at psychological and social aspects, as well as attitudes, manners, reactions and effects such disturbances can have on the entire family.

3. Muller JL. {{Sadomasochism and Hypersexuality in Autism Linked to Amygdalohippocampal Lesion?}} {J Sex Med};2009 (Sep 14)

ABSTRACT Introduction. Pathologies of the amygdala and the hippocampus have been argued to be critically involved in autism as well as in sadomasochism. In line with Kluver and Bucy syndrome, clinical observations, animal models and a few case reports emphasize that temporal brain changes are important for the etiopathogenesis of sexual deviant behaviour. In particular, the amygdalohippocampal region has been linked to hypersexuality, transvestitism and fetishism. While cases and studies are rare, the impact of amygdalohippocampal changes in criminal behaviour remains unclear so far. Aim. To demonstrate the impact of subcortical neurobiological changes in the etiopathogenesis of autism and sadomasochism. Methods. We report on a forensic psychiatric inpatient due to murderer with autism and sadomasochism who had amgdalohippocampal abnormalities bilaterally. Studies on the neurobiological underpinnings of autism and of sadomasochism are reviewed in particular regarding amygdalohippocampal region. Results. In this patient, MRI scan showed hypointensities in amygdala-hippocampal complex bilaterally medial to both cornua inferiores corresponding to an amygdalo-hippocampal atrophy. Conclusions. In line with the literature, this case report links autism and sadomasochism to amygdalohippocampal pathology emphasising its impact in the etiopathogenesis of both disorders. Further research is needed to elucidate the interaction of amygdalohippocampal changes, disturbed emotion precessing and sex offenses. Muller JL. Sadomasochism and hypersexuality in autism linked to amygdalohippocampal lesion? J Sex Med **;**:**-**.

4. Williams SR, Girirajan S, Tegay D, Nowak NJ, Hatchwell E, Elsea SH. {{Array comparative genomic hybridization of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage-sensitive loci also associated with schizophrenia, autism, and developmental delay}}. {J Med Genet};2009 (Sep 14)

Smith-Magenis syndrome (SMS) is caused by del(17)p11.2, including the retinoic acid induced 1 gene (RAI1), or mutation of RAI1. Haploinsufficiency of RAI1 results in developmental delay, mental retardation, sleep disturbance, self-abusive behaviors, and most features commonly seen in SMS. Fifty-two subjects were referred for molecular analysis of RAI1 due to the presence of an SMS-like phenotype in each case. For this cohort, deletion and mutation analyses of RAI1 were negative; thus, the clinical diagnosis of SMS could not be confirmed and suggested that at least one other locus was responsible for the phenotype(s) observed. Here, we present whole-genome array comparative genomic hybridization and detailed phenotypic data of these 52 subjects. Specifically, this SMS-like cohort exhibits developmental delays, sleep disturbance, self-abusive behaviors, motor dysfunction, and hyperactivity of the same type and prevalence as that of SMS. From this study, we have discovered at least 5 new loci that likely contribute to the SMS-like phenotype, including CNVs that were found in more than one subject. Genes in these regions function in development, neurological integrity, and morphology, all of which are affected in SMS. In addition, as a result of the phenotypic overlap between SMS and the SMS-like cases, these data may provide some insight into the function of RAI1, including the pathways in which it may be involved and the genes it may regulate. These data will improve diagnosis, understanding, and potentially treatment of these complex behavior and mental retardation syndromes.