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Trichotillomania/hair pulling disorder (HPD) and excoriation/skin picking disorder (SPD) are childhood-onset, body-focused repetitive behaviors that are thought to share genetic susceptibility and underlying pathophysiology with obsessive-compulsive disorder (OCD) and Tourette syndrome (TS). We sought to determine the prevalence of DSM-5 HPD and SPD in TS patients, and to identify clinical factors most associated with their co-morbidity with TS. Participants included 811 TS patients recruited from TS specialty clinics for a multi-center genetic study. Patients were assessed using standardized, validated semi-structured interviews. HPD and SPD diagnoses were determined using a validated self-report questionnaire. HPD/SPD prevalence rates were calculated, and clinical predictors were evaluated using regression modeling. 3.8 and 13.0% of TS patients met DSM-5 criteria for HPD and SPD, respectively. In univariable analyses, female sex, OCD, and both tic and obsessive-compulsive symptom severity were among those associated with HPD and/or SPD. In multivariable analyses, only lifetime worst-ever motor tic severity remained significantly associated with HPD. Female sex, co-occurring OCD, ADHD, and motor tic severity remained independently associated with SPD. This is the first study to examine HPD and SPD prevalence in a TS sample using semi-structured diagnostic instruments. The prevalence of HPD and SPD in TS patients, and their association with increased tic severity and co-occurring OCD, suggests that clinicians should screen children with TS and related disorders for HPD/SPD, particularly in females and in those with co-occurring OCD. This study also helps set a foundation for subsequent research regarding HPD/SPD risk factors, pathophysiology, and treatment models. [ABSTRACT FROM AUTHOR]

The present study examined attention and memory load-dependent differences in the brain activation and deactivation patterns between adolescents with autism spectrum disorders (ASDs) and typically developing (TD) controls using functional magnetic resonance imaging. Attentional (0-back) and working memory (WM; 2-back) processing and load differences (0 vs. 2-back) were analysed. WM-related areas activated and default mode network deactivated normally in ASDs as a function of task load. ASDs performed the attentional 0-back task similarly to TD controls but showed increased deactivation in cerebellum and right temporal cortical areas and weaker activation in other cerebellar areas. Increasing task load resulted in multiple responses in ASDs compared to TD and in inadequate modulation of brain activity in right insula, primary somatosensory, motor and auditory cortices. The changes during attentional task may reflect compensatory mechanisms enabling normal behavioral performance. The inadequate memory load-dependent modulation of activity suggests diminished compensatory potential in ASD. [ABSTRACT FROM AUTHOR]

Obsessive-compulsive disorder (OCD) is characterized by repetitive thoughts and behaviours that are experienced as unwanted. Family and twin studies have demonstrated that OCD is a multifactorial familial condition that involves both polygenic and environmental risk factors. Neuroimaging studies have implicated the cortico-striato-thalamo-cortical circuit in the pathophysiology of the disorder, which is supported by the observation of specific neuropsychological impairments in patients with OCD, mainly in executive functions. Genetic studies indicate that genes affecting the serotonergic, dopaminergic and glutamatergic systems, and the interaction between them, play a crucial part in the functioning of this circuit. Environmental factors such as adverse perinatal events, psychological trauma and neurological trauma may modify the expression of risk genes and, hence, trigger the manifestation of obsessive-compulsive behaviours. [ABSTRACT FROM AUTHOR]

Obsessive-compulsive disorder (OCD) is characterized by repetitive thoughts and behaviours that are experienced as unwanted. Family and twin studies have demonstrated that OCD is a multifactorial familial condition that involves both polygenic and environmental risk factors. Neuroimaging studies have implicated the cortico-striato-thalamo-cortical circuit in the pathophysiology of the disorder, which is supported by the observation of specific neuropsychological impairments in patients with OCD, mainly in executive functions. Genetic studies indicate that genes affecting the serotonergic, dopaminergic and glutamatergic systems, and the interaction between them, play a crucial part in the functioning of this circuit. Environmental factors such as adverse perinatal events, psychological trauma and neurological trauma may modify the expression of risk genes and, hence, trigger the manifestation of obsessive-compulsive behaviours. [ABSTRACT FROM AUTHOR]

We evaluated social anxiety (SA) symptoms in parents of children with autism spectrum disorders (ASDs; N = 131) and community parents (N = 597) using the Social Phobia and Anxiety Inventory (SPAI). SA was significantly more common in ASD than control mothers (15.6 vs. 6.7 %) and more equal between the ASD and control fathers (3.3 vs. 4.8 %). The ASD mothers scored significantly higher than control mothers on all SPAI scales. ASD fathers scored significantly higher than control fathers on the somatic, cognitive, avoidance and agoraphobic symptoms of SA. It is of clinical import to support ASD parents' well-being as their psychiatric features may contribute greatly to their children's emotional development and the well-being of the whole family. [ABSTRACT FROM AUTHOR]

FMRI was performed with the dynamic facial expressions fear and happiness. This was done to detect differences in valence processing between 25 subjects with autism spectrum disorders (ASDs) and 27 typically developing controls. Valence scaling was abnormal in ASDs. Positive valence induces lower deactivation and abnormally strong activity in ASD in multiple regions. Negative valence increased deactivation in visual areas in subjects with ASDs. The most marked differences between valences focus on fronto-insular and temporal regions. This supports the idea that subjects with ASDs may have difficulty in passive processing of the salience and mirroring of expressions. When the valence scaling of brain activity fails, in contrast to controls, these areas activate and/or deactivate inappropriately during facial stimuli presented dynamically. [ABSTRACT FROM AUTHOR]

It is not known whether reproductive factors early in the mother's life influence risk of autism spectrum disorders (ASD). We assessed maternal age at menarche, menstrual cycle characteristics during adolescence, oral contraceptive use prior to first birth, body shape, and body mass index (BMI) in association with ASD using binomial regression in a cohort study of 61,596 women, including 743 cases. Overall, early life factors were not associated with ASD, though early age at menarche (RR for age 10 or less = 1.54, 95% CI 1.18, 2.02, p = 0.0002) and BMI at age 18 of ≥30 (RR 2.03, 95% CI 1.34, 3.08, p = 0.0008) were significantly associated with increased risk of ASD. Further work should investigate the potential influence of these factors. [ABSTRACT FROM AUTHOR]

The contributions of cognitive style and organization to processing and recalling a complex novel stimulus were examined by comparing the Rey Osterrieth Complex Figure (ROCF) test performance of children, adolescents, and adults with ASD to clinical controls (CC) and non-impaired controls (NC) using the Developmental Scoring System. The ROCF task involves a complex structure with strong organizational or integrative processing demands. The individuals with ASD relied on a predominantly part-oriented strategy to cope with the complexity of the task and did not make the typical developmental shift to a configurational approach. Both processing style and organization (whether pieces of information were perceived as connected to one another in a meaningful way) contributed to structural recall in the ASD group. [ABSTRACT FROM AUTHOR]

The present study identifies the prevalence and types of comorbid psychiatric disorders associated with Asperger syndrome (AS)/high-functioning autism (HFA) in a combined community- and clinic-based sample of fifty 9- to 16-year-old subjects using the Schedule for Affective Disorders and Schizophrenia for School-Age Children, Present and Lifetime Version. The level of functioning was estimated using the Children’s Global Assessment Scale. The results support common (prevalence 74%) and often multiple comorbid psychiatric disorders in AS/HFA; behavioral disorders were shown in 44%, anxiety disorders in 42% and tic disorders in 26%. Oppositional defiant disorder, major depressive disorder and anxiety disorders as comorbid conditions indicated significantly lower levels of functioning. To target interventions, routine evaluation of psychiatric comorbidity in subjects with AS/HFA is emphasized. [ABSTRACT FROM AUTHOR]

This paper assessed the neural systems involved in processing of dynamic facial expressions in adolescents. The processing of facial expressions changes as a function of age, and it is thus important to understand how healthy adolescent subjects process dynamic facial expressions prior to analyzing disease-related changes. We hypothesized that viewing of dynamic facial expressions with opposing valences (happy vs. fearful) induces differential activations and deactivations in the brain. 27 healthy adolescents (9 ♀, 18 ♂, mean age = 14.5 years; age range 11.6–17.3 years) were examined by using the ASSQ and K-SADS-PL and scanned with 1.5-T fMRI during viewing of dynamic facial expressions and mosaic control images. The stimuli activated the same areas as previously seen in dynamic facial expression in adults. Our results indicated that opposing-valence dynamic facial expressions had differential effects on many cortical structures but not on subcortical limbic structures. The mirror neuron system is activated more during viewing of fearful compared to happy expressions in bilateral inferior frontal gyrus (IFG) and superior temporal sulcus (STS) left dominantly. We also detected more deactivation in the ventral anterior cingulate gyrus (ACG), showing more automated attentional processing of fearful expressions during passive viewing. Females were found to deactivate the right frontal pole more than male adolescents during happy facial expressions, while there were no differences in fear processing between genders. No clear gender or age effects were detected. In conclusion fear induces stronger responses in attention and mirror neurons probably related to fear contagion. [ABSTRACT FROM AUTHOR]

The aims of this study were, firstly, to study the association between parents’ and teachers’ ratings for the Finnish version of the Autism Spectrum Screening Questionnaire (ASSQ), secondly, to find out whether the original cut-off scores of the ASSQ identify primary school-aged children with Asperger syndrome (AS) or autism by using the Finnish ASSQ, and thirdly, to evaluate the validity of the ASSQ. Parents and/or teachers of higher-functioning (full-scale intelligence quotient ≥ 50) 8-year-old total population school children ( n = 4,408) and 7–12-year-old outpatients with AS/autism ( n = 47) completed the Finnish version of the ASSQ. Agreement between informants was slight. In the whole total population, low positive correlation was found between parents’ and teachers’ ratings, while in the sample of high-scoring children the correlation turned out to be negative. A cut-off of 30 for parents’ and teacher's summed score and 22 for teachers’ single score is recommended. A valid cut-off for parents’ single score could not been estimated. The clinicians are reminded that the ASSQ is a screening instrument, not a diagnosing instrument. The importance of using both parents’ and teachers’ ratings for screening in clinical settings is underlined. [ABSTRACT FROM AUTHOR]

Genetic factors contribute substantially to the development of reading disability (RD). Family linkage studies have implicated many chromosomal regions containing RD susceptibility genes, of which putative loci at 1p34–p36 ( DYX8), 2p ( DYX3), 6p21.3 ( DYX2), and 15q21 ( DYX1) have been frequently replicated, whereas those at 3p12–q12 ( DYX5), 6q13–q16 ( DYX4), 11p15 ( DYX7), 18p11 ( DYX6), and Xq27 ( DYX9) have less evidence. Association studies of positional candidate genes have implicated DCDC2 and KIAA0319 in DYX2, as well as C2ORF3 and MRPL19 ( DYX3), whereas DYX1C1/EKN1 ( DYX1) and ROBO1 ( DYX5) were found to be disrupted by rare translocation breakpoints in reading-disabled individuals. Four of the candidate genes ( DYX1C1, KIAA0319, DCDC2, and ROBO1) appear to function in neuronal migration and guidance, suggesting the importance of early neurodevelopmental processes in RD. Future studies to help us understand the function of these and other RD candidate genes promise to yield enormous insight into the neurobiologic mechanisms underlying the pathophysiology of this disorder. [ABSTRACT FROM AUTHOR]

We examined social anxiety and internalizing symptoms using the Social Phobia and Anxiety Inventory for Children (SPAI-C), the Social Anxiety Scale for Children -Revised (SASC-R), and the Child Behavior Checklist (CBCL) in a sample of fifty-four high-functioning subjects with autism or Asperger syndrome (HFA/AS) ( M = 11.2 ± 1.7 years) and 305 community subjects ( M = 12.2 ± 2.2 years). Children and adolescents completed the SPAI-C and SASC-R, and their parents completed the CBCL Internalizing scale. Adolescents with HFA/AS scored higher than the community sample on all measures. Behavioural avoidance and evaluative social anxiety increased by age within the HFA/AS group, whereas behavioural avoidance decreased by age in control participants. Data support that HFA/AS in adolescents may be associated with clinically relevant social anxiety symptoms. [ABSTRACT FROM AUTHOR]

Many people with the diagnosis of Asperger syndrome (AS) show poorly developed skills in understanding emotional messages. The present study addressed discrimination of speech prosody in children with AS at neurophysiological level. Detection of affective prosody was investigated in one-word utterances as indexed by the N1 and the mismatch negativity (MMN) of auditory event-related potentials (ERPs). Data from fourteen boys with AS were compared with those for thirteen typically developed boys. These results suggest atypical neural responses to affective prosody in children with AS and their fathers, especially over the RH, and that this impairment can already be seen at low-level information processes. Our results provide evidence for familial patterns of abnormal auditory brain reactions to prosodic features of speech. [ABSTRACT FROM AUTHOR]

Objective: To examine the implications for research of the use of three alternative definitions for Asperger syndrome (AS). Differences across the three nosologic systems were examined in terms of diagnostic assignment, IQ profiles, comorbid symptoms, and familial aggregation of social and other psychiatric symptoms.Method: Standard data on diagnosis, intellectual functioning, comorbidity patterns, and family history were obtained on 65 individuals screened for a very high probability of having autism without mental retardation (or higher functioning autism, HFA) or AS. Diagnoses of AS were established based on three different approaches: DSM-IV, presence/absence of communicative phrase speech by 3 years, and a system designed to highlight prototypical features of AS.Results: Agreement between the three diagnostic systems was poor. AS could be differentiated from HFA (but not from PDD-NOS) on the basis of IQ profiles in two of the three systems. Differences in patterns of comorbid symptomatology were obtained in two of the three systems, although differences were primarily driven by the PDD-NOS category. Only one of the approaches yielded differences relative to aggregation of the “broader phenotype” in family members.Conclusions: Diagnostic assignments of AS based on three commonly used approaches have low agreement and lead to different results in comparisons of IQ profiles, patterns of comorbidity, and familial aggregation of psychiatric symptoms across the approach-specific resultant groups of HFA, AS, and PDD-NOS. [ABSTRACT FROM AUTHOR]

In this study, we evaluated the incidence of hyperlexia in a clinically referred sample of 80 children with developmental delays. Based on hypotheses previously formulated in the literature, the study investigated the frequency of hyperlexia among boys and girls, the incidence of hyperlexia in children with Pervasive Developmental Disorders (PDD)-spectrum compared with non-PDD diagnoses, the range of IQ and of various cognitive skills in children with and without hyperlexia, and the developmental outcomes of children with and without hyperlexia. The results revealed no significant differences in the frequency of hyperlexia in girls compared with boys. However, the frequency of hyperlexia was significantly elevated among children with PDD compared with children with non-PDD diagnoses. The range of IQ and other cognitive skills and the developmental outcomes of children with hyperlexia were comparable to those of children without hyperlexia. [ABSTRACT FROM AUTHOR]

Twin and family studies demonstrate that Tourette syndrome (TS) is a genetic disorder. Early segregation analyses of family data were consistent with the hypothesis of autosomal dominant transmission; however, more recent studies suggest that the mode of inheritance is more complex. Current findings suggest that there are genes of major effect with other genes acting as modifiers. Several genome scans have been completed and several regions of interest have been identified that may harbor susceptibility genes for TS. Work is currently underway to replicate and extend these initial results. [ABSTRACT FROM AUTHOR]

The validity of Asperger syndrome (i.e., apart from high-functioning autism) continues to be the topic of considerable debate. Consistent with Asperger's original description of the condition there appear to be some important potential differences from autism if both conditions are strictly defined. Although the importance of genetic factors in the transmission of autism is increasingly clear it also appears that genetic factors may play an even more important role in Asperger syndrome (AS). The nosological validity of this condition and its relation to the various PDD spectrum disorder remains an important topic for future research. Well-designed and carefully controlled studies are needed in which patterns of comorbidity and associated problems in family members can be carefully assessed. Such studies will contribute to our understanding of the relationship of AS and autism and may clarify important genetic mechanisms of relevance to autism. [ABSTRACT FROM AUTHOR]

A correction to the article "Maternal Early Life Factors Associated with Hormone Levels and the Risk of Having a Child with an Autism Spectrum Disorder in the Nurses Health Study II" that was published in the September 14, 2010 issue is presented.

Introduction and objectives: Attention deficit hyperactivity disorder (ADHD) is a common and highly heritable neuropsychiatric disorder observed in children and adults. We have investigated the presence of genomic convergence in the top findings of the five published genome- wide association studies (GWAS) of ADHD. Methods: We conducted bioinformatics analyses and a systematic literature analysis of 85 ADHD candidate genes from the five GWAS that contained at least one single nucleotide polymorphism (SNP) yielding an association P value < 1.00E-04. Results and discussion: We found that 44 of the 85 top ADHD candidate genes fit into a network that links several neuronal cell membrane proteins with downstream-acting adaptor proteins and neuronal cytoskeleton/extracellular matrix associated proteins. Acting together, these proteins are involved in directed neurite outgrowth. Moreover, a number of proteins in the identified network are directly modulated by stimulants, the most commonly used psychopharmacological treatment for ADHD. Conclusion: We have identified a protein network that may provide an important contribution to our understanding of the molecular basis of ADHD and give clues to specific genes that should be tested in future studies. [ABSTRACT FROM AUTHOR]