Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.

Comparative analyses have identified genomic regions potentially involved in human evolution but do not directly assess function. Human accelerated regions (HARs) represent conserved genomic loci with elevated divergence in humans. If some HARs regulate human-specific social and behavioral traits, then mutations would likely impact cognitive and social disorders. Strikingly, rare biallelic point mutations-identified by whole-genome and targeted "HAR-ome" sequencing-showed a significant excess in individuals with ASD whose parents share common ancestry compared to familial controls, suggesting a contribution in 5% of consanguineous ASD cases. Using chromatin interaction sequencing, massively parallel reporter assays (MPRA), and transgenic mice, we identified disease-linked, biallelic HAR mutations in active enhancers for CUX1, PTBP2, GPC4, CDKL5, and other genes implicated in neural function, ASD, or both. Our data provide genetic evidence that specific HARs are essential for normal development, consistent with suggestions that their evolutionary changes may have altered social and/or cognitive behavior. PAPERCLIP.

Neurodevelopmental evaluation of children who were operated due to congenital anomaly with the 'Ages and Stages Questionnaire (ASQ)' and 'ASQ: Social-Emotional'.

BACKGROUND: The purpose of surgeries performed for congenital anomalies in children is to increase the survival rates and provide a developmental comparison to that of their peers. AIM: The objective of this study was to investigate the development of children following surgery for congenital anomalies and the risk factors affecting their development. METHODS: Our study included 33 children who underwent surgery for gastrointestinal anomalies in our clinic between 2011 and 2016, and did not have any syndrome, chromosomal abnormality, or additional abnormality. Developmental levels were evaluated using the Ages and Stages Questionnaire (ASQ) and the ASQ: Social-Emotional (ASQ: SE) scales adapted for the use on Turkish children. Data on patient history were obtained retrospectively from patient files. RESULTS: The study included 33 patients, including 11 with esophageal atresia, 6 with intestinal atresia, 11 with anorectal malformation, and 5 with Hirschsprung's disease. Developmental delay was found in the ASQ of 72.7% of the patients and the ASQ: SE tool was 27% of the patients. The rate of patients with scores below the threshold from each parameter of ASQ was higher than that of the normal population (p < 0.05). Development delay was detected using the ASQ scale in 100% of those with microcephaly at birth, in 91% of premature infants born between 1500 and 2500 g, and in 83.3% of those with low birth weight to gestational age. CONCLUSIONS: In children who underwent surgery due to congenital anomalies, an evaluation through developmental tests, a post-surgical follow-up process, and a referral to the relevant disciplines when necessary may increase the success of surgery as well as increase the life quality of the patient.

Grade effects on teacher ratings of ADHD symptoms among primary school students.

Several studies have reported that being younger for grade increases the risk of having attention deficit hyperactivity disorder (ADHD) diagnosis and being on ADHD medication among students. The aim of this study was to investigate this association in a low-middle income country setting. Sample included 2,627 children from first to fourth grades. We compared students who were older than the 75th and younger than the 25th percentiles in consecutive grades. Teachers completed SNAP-4 scale. Results indicated that teacher rated ADHD symptoms were 2.5 to 3.6 times more common in students who were younger for their grade, after age, gender, and Fluid IQ scores were controlled. Teacher SNAP-4 scores were also significantly associated with grade. Our results suggested that the phenomenon of higher rates of teacher rated ADHD symptoms among younger for grade students was not limited to Western countries and that the teacher reported symptom loads were higher in these children.

Hydatid Cyst of the Posterior Cervical Region.

Hydatid cyst is an endemically seen parasitic disease and caused by the larval form of Echinococcus parasites. The disease is mostly seen in liver and lung, and the other involvement is rarely seen. Head and neck involvement is extremely rarely seen and its frequency in the literature is reported as less than 1%. It is usually asymptomatic and the symptoms are related to the compression to the adjacent structures. In this paper, the authors report a patient of hydatid cyst localized in the posterior cervical region.

EMOTIONAL AVAILABILITY IN EARLY MOTHER-CHILD INTERACTIONS FOR CHILDREN WITH AUTISM SPECTRUM DISORDERS, OTHER PSYCHIATRIC DISORDERS, AND DEVELOPMENTAL DELAY.

Emotional availability (EA) is a method to assess early parent-child dyadic interactions for emotional awareness, perception, experience, and expression between child and parent that describe global relational quality (Z. Biringen & M. Easterbrooks, 2012). The current study aimed to examine the effects of an infant's diagnosis of autism spectrum disorders (ASDs), other psychiatric disorders (OPD), and developmental delay (DD) on the maternal EA Scale (EAS; Z. Biringen & M. Easterbrooks, 2012; Z. Biringen, J.L. Robinson, & R.N. Emde, 2000) scores and the relative contributions of infant's age, gender, diagnosis, developmental level, and maternal education on EAS scores in a clinical Turkish sample. Three hundred forty-five infant-mother dyads participated in this study. Results of the research indicated that EAS adult scores were associated with maternal education and infant's diagnosis whereas child scores were associated with infant's age, diagnosis, and developmental level. Infants' involvement and responsiveness to the mother were lower in the group with ASD. Children with OPD, particularly when their mothers have lower education, might be at increased risk of having problems in parent-child interactions. Young ASD subjects with developmental delay are in greatest need of support to increase reactions toward their mother. These findings underscore the importance of using all of the EA dimensions rather than only one measure on children in high-risk populations.

Effects of maternal symptom ratings and other clinical features on short-term treatment response to OROS methylphenidate in children and adolescents with ADHD in a naturalistic clinical setting.

OBJECTIVE: To investigate the effect of Attention Deficit Hyperactivity Disorder (ADHD), antisocial behavior and anxiety/depression ratings of mothers, and child and adolescents' age, gender, ADHD subtype, and comorbidity on one-month drug treatment response to OROS methylphenidate in ADHD in a naturalistic setting. METHODS: The analyses included 223 subjects (191 boys, 32 girls; age 6-15 years, mean: 9.4) treated with OROS methylphenidate (18-72 mg/day, mean: 31 mg/d; 0.4-1.4 mg/kg/d) for one-month. Treatment response was defined as larger than 25% or more decrease in pre-treatment the Conners Parent Rating Scale (CPRS) or the Conners Teacher Rating Scale (CTRS) total scores and the Clinical Global Impression improvement with drug treatment 3 (minimally improved) or higher. Maternal ADHD, antisocial behavior and anxiety/depression ratings were obtained by the Adult Self Rating (ASR). Logistic regression analyses were computed in order to calculate the effects of gender; age; ADHD subtype; comorbid anxiety disorder, learning disorder, oppositional defiant/conduct disorder; maternal ASR Anxiety/Depression, ADHD and Antisocial scores. RESULTS: 35.2% of subjects had statistically significant 25% or more decrease in pretreatment CPRS total scores and 38.6% of subjects had statistically significant 25% or more decrease in pretreatment CTRS total scores. The subjects with comorbid anxiety disorder had the poorest drug response. Maternal self-reported antisocial and anxiety/depressive symptomatology were statistically significantly associated with worse response to treatment in terms of CPRS (respectively, OR=0.83, 95% CI: 0.75-0.92, p<0.01; OR=0.95, 95% CI: 0.9-0.99, p<0.05) and CTRS total scores (OR=0.9, 95% CI: 0.82-0.99, OR=0.95, 95% CI: 0.91-1, p<0.05). Baseline rating scores were also important predictors of drug treatment response. Effects of age, gender and maternal ADHD were not statistically significant. CONCLUSION: ADHD children and adolescents with comorbid anxiety disorders and those whose mothers have more self-reports of antisocial and depressive symptoms showed less favorable short-term response to OROS-MPH. These subjects may require further attention and additional interventions to augment treatment with OROS methylphenidate.

Changes in the superior longitudinal fasciculus and anterior thalamic radiation in the left brain are associated with developmental dyscalculia.

Developmental dyscalculia is a neurodevelopmental disorder specific to arithmetic learning even with normal intelligence and age-appropriate education. Difficulties often persist from childhood through adulthood lowering the individual's quality of life. However, the neural correlates of developmental dyscalculia are poorly understood. This study aimed to identify brain structural connectivity alterations in developmental dyscalculia. All participants were recruited from a large scale, non-referred population sample in a longitudinal design. We studied 10 children with developmental dyscalculia (11.3 ± 0.7 years) and 16 typically developing peers (11.2 ± 0.6 years) using diffusion-weighted magnetic resonance imaging. We assessed white matter microstructure with tract-based spatial statistics in regions-of-interest tracts that had previously been related to math ability in children. Then we used global probabilistic tractography for the first time to measure and compare tract length between developmental dyscalculia and typically developing groups. The high angular resolution diffusion-weighted magnetic resonance imaging and crossing-fiber probabilistic tractography allowed us to evaluate the length of the pathways compared to previous studies. The major findings of our study were reduced white matter coherence and shorter tract length of the left superior longitudinal/arcuate fasciculus and left anterior thalamic radiation in the developmental dyscalculia group. Furthermore, the lower white matter coherence and shorter pathways tended to be associated with the lower math performance. These results from the regional analyses indicate that learning, memory and language-related pathways in the left hemisphere might be related to developmental dyscalculia in children.

Ferritin and hyperactivity ratings in attention deficit hyperactivity disorder.

BACKGROUND: Iron is a co-factor of tyrosine hydroxylase which is a critical enzyme in dopamine synthesis. Dopamine has been implicated in the pathophysiology of attention deficit hyperactivity disorder (ADHD). Our objective was to investigate the association of ferritin level with parent and teacher ratings and cognitive measures after controlling for age, sex, ADHD subtype, comorbid conditions, hemoglobin, mean corpuscular volume and reticulocyte distribution width in a large sample. METHODS: The study included 713 children and adolescents with ADHD (613 boys; age 7-15 years). Conners' Parent Rating Scale (CPRS) and Conners' Teacher Rating Scale (CTRS) were obtained. In a subgroup of patients we conducted Digit Span, Digit Symbol, Trail-making Tests as measures of attention and executive functioning. RESULTS: Multiple regression analysis indicated that CPRS Hyperactivity score was significantly associated with ferritin level (B =-0.12; t =-3.1; P < 0.01). Other CPRS and CTRS scores as well as cognitive measures were not associated with ferritin level. CONCLUSIONS: Although it is not possible to make an inference on causality in cross-sectional studies, the results of this largest-scale cross-sectional field study to date suggest that lower ferritin level might be associated with parent-reported hyperactivity after controlling for important confounding factors.

Characteristics of DSM-IV attention deficit hyperactivity disorder combined and predominantly inattentive subtypes in a Turkish clinical sample.

Consecutively referred subjects (N = 537) to an outpatient clinic were evaluated to compare the Attention Deficit Hyperactivity Disorder Combined (ADHD-C) and predominantly inattentive (ADHD-PI) subtypes using parent and teacher ratings and neuropsychological variables. Statistical significance was at P < 0.002 adjusted for multiple comparisons. ADHD-PI subjects were older, more likely to be female, higher socioeconomic status, had lower Child Behavior Checklist and Teacher Report Form Aggression, Delinquency and Social Problems scores, and higher Withdrawal and Competence scores, compared to ADHD-C subjects. Comorbid conduct problems were more common among ADHD-C subjects. There were no differences in terms of anxiety/depression, and neuropsychological measures. The study is unique in that it provides data on a broad range of measures from a middle income developing country with important confirmation of similar pattern of differences and similarities between ADHD-C and ADHD-PI subtypes previously reported in North American and Western European samples.

Effect of Ferritin on Short-Term Treatment Response in Attention Deficit Hyperactivity Disorder.

OBJECTIVES: Several studies have shown that iron deficiency and ferritin levels are associated with parent and teacher Attention Deficit Hyperactivity Disorder (ADHD) ratings. Although there are conflicting results, it has also been reported that iron supplementation may help to decrease ADHD symptoms. When all these previous studies are taken into account, it is clear that a large study investigating the effects of iron deficiency and ferritin levels on routine pharmacological treatment of ADHD with stimulants would be helpful to elucidate this treatment from a clinical point of view. METHODS: A total of 345 subjects with combined or predominantly hyperactive-impulsive (PHI) subtypes of ADHD were included. All diagnoses were based on the DSM-IV criteria and ascertained by direct interviews conducted by the authors, who are experienced child psychiatrists certified in the use of the Schedule for Affective Disorders and Schizophrenia for School-Age Children - Present and Lifetime Version (K-SADS-PL) semi-structured interview. The two treatment response criteria were: 1) 25% or more decrease in pre-treatment Conners Parent Rating Scale (CPRS) and Conners Teacher Rating Scale (CTRS) Hyperactivity (HA) and Total Problems scores; 2) CPRS and CTRS HA scores lower than the cut-off point ("very improved"). RESULTS: A total of 255 (73.9%) patients were on OROS-methylphenidate (OROS-MPH) and 90 (26.1%) were on immediate release methylphenidate (IR-MPH). The mean±sd of OROS-MPH and IR-MPH doses were 28.8±8.1 and 20.9±7.1 mg, respectively. More than half (52.5%) of the subjects were previously drug-naive at treatment inception. Two hundred and seventy eight (80.6%) subjects had combined subtype ADHD and the remainder had predominantly hyperactive-impulsive subtype. Only 60 (17.4%) of the subjects had no comorbid disorders, while 38.3% had one comorbid disorder, 32.8% had two comorbid disorders, and 11.6% had three or more comorbid disorders. The most frequent comorbidity was Oppositional Defiant Disorder/Conduct Disorder (ODD/CD, 51.6%), followed by Learning Disabilities (LD, 35.4%) and Anxiety Disorders (AD, 15.9%). Logistic regression analysis showed that subjects with comorbid ODD/CD and LD were less likely to respond to treatment. Ferritin levels and iron deficiency were not associated significantly with outcomes. CONCLUSIONS: In a large sample of subjects with combined or predominantly hyperactive-impulsive subtypes of ADHD, after controlling for several factors, we found that neither iron deficiency (ferritin <12 ng/ml) nor ferritin levels were associated with less favorable short-term treatment outcomes with stimulants. Subjects with comorbid ODD/CD and LD were less likely to have a 25% or more decrease in CTRS Total score. The presence of ODD/CD was also a negative predictor of treatment response in terms of CPRS Total and HA scores. The lack of a negative treatment response in ADHD subjects with iron deficiency and lack of a negative association with ferritin levels suggest that the relationship between iron metabolism and ADHD, a highly heterogeneous disorder, may be more complicated than previously believed.

[Reliability and Validity of the Turkish Version of the Social Communication Scale.] / Sosyal Iletisim Ölçeginin Okul Öncesi Çocuklardaki Geçerlik ve Güvenirligi.

Reliability and validity of the turkish version of the social communication scale. OBJECTIVE: The aim of this study was to evaluate the reliability and validity of the Turkish version of the Social Communication Scale (SCQ). METHOD: Throughout 2010-2011, we evaluated children who were between 18-60 months of age in the outpatient clinic who were diagnosed as having autism (n=49) or pervasive developmental disorder not otherwise specified (n=18) according to the DMS-IV criteria. The control group consisted of 51children with developmental delay (25 mental retardation, 26 speech delay) and 71 children with typical development in the same age group. We used a one way analysis of variance and post-hoc Tukey HSD test to compare the SCQ scores of the groups. For the reliability and validity analysis the Cronbach alpha, item-total score correlations and test-retest correlations were used. Principal components analysis and varimax rotation were used to find the factor solutions. Receiver Operator Characteristic (ROC) curves were utilised to detect cut-off scores, sensitivity, specificity, and negative and positive predictive values. RESULTS: The analysis yielded 3 factors named Language, Reciprocal Social Interaction and Stereotypic Behaviors/Restricted Areas of Interest. The Cronbach alpha value of the total score was 0.88. The test-retest correlation was high (r=0.90, p<0.01). The SCQ Total, Language, Reciprocal Social Interaction and Stereotypic Behaviors/Restricted Areas of Interest scores were significantly different among the groups. The SCQ Total, Reciprocal Social Interaction and Stereotypic Behaviors/Restricted Areas of Interest scores were highest in the autism spectrum disorders group. The SCQ Language and Stereotypic Behaviors/Restricted Areas of Interest scores were not significantly different between the developmental delay and the typical development groups. ROC analysis indicated that the SCQ Total and Reciprocal Social Interaction scores differentiated very well between the autism spectrum and control group (area under the curve 0.89 and 0.91) while the Stereotypic Behaviors/Restricted Areas of Interest score differentiated less (0.72). Using a cut-off score of 14.5 for the SCQ Total score, sensivity was 0.84, specificity was 0.81, positive predictive value was 0.82 and negative predictive value was 0.83. Using a cut-off score of 7.5 for the SCQ Reciprocal Social Interaction score, sensivity, specifity, positive predictive value and negative predictive value were 0.91, 0.82, 0.83, 0.90, respectively. CONCLUSION: The results indicated that in children younger than 60 months of age the SCQ Total score can differentiate subjects with autism spectrum disorders from children with developmental delay and typically developing controls; however, the Reciprocal Social Interactions score was more sensitive and specific. On the other hand, the negative and positive predictive values indicated that there was a fair percentage of false negatives and positives. Our results showed that, particularly in younger children, the Reciprocal Social Interaction items were more specific and were more helpful for differentiation of the children with autism spectrum disorders. The availability of the SCQ as a shorter and more practical form of the Autism Diagnostic Interview, revised in Turkish, is important as both a research and clinical tool.

Hypospadias and the Use of the Ages and Stages Questionnaire to Evaluate Neurodevelopmental Status of Boys with Hypospadias.

INTRODUCTION: Placental insufficiency is one of the reasons for the reduction of hormone production. Thus, if one of the suspected causes of hypospadias is placental insufficiency, then the neurodevelopmental status of boys with hypospadias may be impaired. The aim of this study was to evaluate the neurodevelopmental status of boys with hypospadias and guide the parents of those who need support to related departments for early intervention. MATERIALS AND METHODS: Boys were divided into two groups, those with hypospadias (group H) and healthy children undergoing traditional circumcision (group C). The parents of the boys completed the Ages and Stages Questionnaire (ASQ) and ASQ-Social Emotional (SE), both of which are screening instruments for the early identification of developmental and social-emotional problems, respectively. RESULTS: Seventy-eight boys had hypospadias and 59 were admitted for traditional circumcision. The group H had statistically significant more impaired scores than group C in communication, gross motor, and personal-social skill sections. The multivariate logistic regression analysis revealed that hypospadias was the independent predictive factor for communication and personal-social skills. CONCLUSION: Hypospadias and neurologic impairment may share common etiologic factors. Accordingly, physicians should keep in mind that if a boy presents with hypospadias, the possibility of having neurologic impairment is higher than normal population and early intervention has crucial importance. Every boy with hypospadias should be evaluated for neurodevelopmental status.

Social distance and stigma towards persons with serious mental illness among medical students in five European Central Asia countries.

The study investigated behavioral measures of social distance (i.e., desired proximity between self and others in social contexts) as an index of stigma against those with mental illness among medical students in the Republic of North Macedonia, Turkey, Azerbaijan, Kazakhstan, and Poland, using the Reported and Intended Behavior Scale (RIBS), a standardized, self-administered behavioral measure based on the Star Social Distance Scale. The students' responses to standardized clinical vignettes on schizophrenia, and depression with suicidal ideation, were also assessed. A total of 257 North Macedonian (females, 31.5%; 1-4 grades, 189; 5-6 grades, 68); 268 Turkish (females, 43.3%; 1-4 grades, 90; 5-6 grades, 178); 450 Kazakh (females, 28.4%, 71.6%; 1-4 grades, 312; 5-6 grades, 138); 512 Azerbaijani (females, 24%; 1-4 grades, 468; 5-6 grades, 44; females, 24%), and 317 Polish (females, 59.0%; 1-4 grades, 208; 5-6 grades, 109) students were surveyed. The responses on the RIBS social distance behavior measures did not improve with advancing medical school grade, but students across all sites viewed schizophrenia and depression as real medical illnesses. The results support the development of enhanced range of integrated training opportunities for medical student to socially interact with persons with mental illness sharing their experiences with them.

Temperament traits and psychopathy in a group of patients with antisocial personality disorder.

OBJECTIVE: The Psychopathy Checklist Revised (PCL-R) and Temperament and Character Inventory (TCI) have been used extensively in research of personality disorders; however, no previous study has investigated the relation between psychopathy factors and temperament and character traits in patients with antisocial personality disorder (ASPD). Our aim was to fill this gap in the literature. METHODS: The PCL-R Factor scores and the TCI temperament and character scores were evaluated in 68 men with ASPD and 65 healthy male controls. RESULTS: The ASPD cases had significantly higher PCL-R Factor 1, Factor 2, and Total scores, as well as significantly higher TCI Novelty Seeking and Harm Avoidance scores, whereas the control group had higher TCI Reward Dependence, Persistence, Self-Directedness, and Cooperativeness scores. Correlation analysis revealed that, in the whole study group, PCL-R Factor 1, Factor 2, and Total scores were positively correlated with Novelty Seeking and Harm Avoidance scores and negatively correlated with Reward Dependence, Persistence, Self-Directedness, and Cooperativeness scores. When each group was analyzed separately, the correlations were not significant. Regression analysis supported the main findings. CONCLUSION: Our results showed that both PCL-R Factor 1 score, which is claimed to reflect "core psychopathy," and PCL-R Factor 2 score, which reflects criminal behaviors, were positively correlated with Novelty Seeking and Harm Avoidance and were negatively correlated with Reward Dependence in the whole sample. The reduced variance of PCL-R in each group might lead to nonsignificant associations within groups. Without the subjects with severe psychopathy in the present study, it might not be possible to show the association.

Synaptosomal-associated protein 25 gene polymorphisms and antisocial personality disorder: association with temperament and psychopathy.

OBJECTIVE: The molecular genetic of personality disorders has been investigated in several studies; however, the association of antisocial behaviours with synaptosomal-associated protein 25 (SNAP25) gene polymorphisms has not. This association is of interest as SNAP25 gene polymorphism has been associated with attention-deficit hyperactivity disorder and personality. METHODS: We compared the distribution of DdeI and MnII polymorphisms in 91 young male offenders and in 38 sex-matched healthy control subjects. We also investigated the association of SNAP25 gene polymorphisms with severity of psychopathy and with temperament traits: novelty seeking, harm avoidance, and reward dependence. RESULTS: The MnII T/T and DdeI T/T genotypes were more frequently present in male subjects with antisocial personality disorder (APD) than in sex-matched healthy control subjects. The association was stronger when the frequency of both DdeI and MnII T/T were taken into account. In the APD group, the genotype was not significantly associated with the Psychopathy Checklist-Revised scores, measuring the severity of psychopathy. However, the APD subjects with the MnII T/T genotype had higher novelty seeking scores; whereas, subjects with the DdeI T/T genotype had lower reward dependence scores. Again, the association between genotype and novelty seeking was stronger when both DdeI and MnII genotypes were taken into account. CONCLUSION: DdeI and MnII T/T genotypes may be a risk factor for antisocial behaviours. The association of the SNAP25 DdeI T/T and MnII T/T genotypes with lower reward dependence and higher novelty seeking suggested that SNAP25 genotype might influence other personality disorders, as well.

Children With Dyscalculia Show Hippocampal Hyperactivity During Symbolic Number Perception.

Dyscalculia is a learning disability affecting the acquisition of arithmetical skills in children with normal intelligence and age-appropriate education. Two hypotheses attempt to explain the main cause of dyscalculia. The first hypothesis suggests that a problem with the core mechanisms of perceiving (non-symbolic) quantities is the cause of dyscalculia (core deficit hypothesis), while the alternative hypothesis suggests that dyscalculics have problems only with the processing of numerical symbols (access deficit hypothesis). In the present study, the symbolic and non-symbolic numerosity processing of typically developing children and children with dyscalculia were examined with functional magnetic resonance imaging (fMRI). Control (n = 15, mean age: 11.26) and dyscalculia (n = 12, mean age: 11.25) groups were determined using a wide-scale screening process. Participants performed a quantity comparison paradigm in the fMRI with two number conditions (dot and symbol comparison) and two difficulty levels (0.5 and 0.7 ratio). The results showed that the bilateral intraparietal sulcus (IPS), left dorsolateral prefrontal cortex (DLPFC) and left fusiform gyrus (so-called "number form area") were activated for number perception as well as bilateral occipital and supplementary motor areas. The task difficulty engaged bilateral insular cortex, anterior cingulate cortex, IPS, and DLPFC activation. The dyscalculia group showed more activation in the left orbitofrontal cortex, left medial prefrontal cortex, and right anterior cingulate cortex than the control group. The dyscalculia group showed left hippocampus activation specifically for the symbolic condition. Increased left hippocampal and left-lateralized frontal network activation suggest increased executive and memory-based compensation mechanisms during symbolic processing for dyscalculics. Overall, our findings support the access deficit hypothesis as a neural basis for dyscalculia.

The relationship of cortical activity induced by pain stimulation with clinical and cognitive features of somatic symptom disorder: A controlled functional near infrared spectroscopy study.

OBJECTIVE: The neurobiological correlates of Somatic Symptom Disorder (SSD) introduced in the DSM-5 has been the focus of a limited investigation. We aimed to examine the cortical response to painful stimuli and its relationship to symptom severity as well as cognitive and psychological characteristics in proposed models of somatoform disorders. METHODS: We measured hemodynamic responses by 52-channel functional near-infrared spectroscopy. We compared the cortical response to painful stimuli in index patients with SSD (N = 21) versus age, and gender matched healthy control subjects (N = 21). We used brush stimulation as the control condition. We analyzed the relationship of cortical activity with SSD symptom severity as well as somatosensory amplification (SSA), alexithymia, dysfunctional illness behaviour, worry, and neuroticism. RESULTS: Patients with SSD had higher somatic symptom severity, SSA, alexithymia, neuroticism, illness-related worry, and behaviour. Somatic symptom severity was predicted by a model including SSA and subjective feeling of pain in the index patients. Activity in the left-angular and right-middle temporal gyri was higher in the SSD subjects than the controls during pain stimulation. Positive correlations were detected between mean pain threshold levels and left middle occipital gyrus activity, as well as between SSA-scores and right-angular gyrus activity during pain condition in the index patients with SSD. CONCLUSION: We present the first evidence that representation of pain in terms of cortical activity is different in subjects with SSD than healthy controls. SSA has functional neuroanatomic correlates and predicts symptom severity in SSD and therefore is involved as a valid intermediate phenotype in SSD pathophysiology.

Refractive errors and strabismus in children with laurence-moon-biedl syndrome.

PURPOSE: To describe the ocular and refractive findings in patients with Laurence-Moon-Biedl syndrome. METHODS: Seventeen patients with Laurence-Moon-Biedl syndrome were evaluated retrospectively. All children underwent complete ophthalmologic examination. RESULTS: Of the patients evaluated, 88.2% had an ocular or refractive finding, 58.8% had myopia (degenerative in three cases), 52.9% had astigmatism, 11.7% had an-isometropia, 17.6% had strabismus, 11.7% had retinitis pigmentosa, 5.9% had keratoconus, 5.9% had optic atrophy, and 5.9% had nystagmus. CONCLUSION: Early and regular ophthalmologic assessment is required to prevent visual loss as a result of amblyogenic factors in children with Laurence-Moon-Biedl syndrome.