Theory of mind in neurodevelopmental disorders: beyond autistic spectrum disorder.

INTRODUCTION: Theory of mind (ToM) is the human ability to perceive, interpret, and attribute the mental states of other people, and the alteration of this cognitive function is a core symptom of autistic spectrum disorder (ASD). In such other neurodevelopmental disorders as childhood-onset obsessive-compulsive disorder (OCD) and Tourette syndrome (TS) that can present with cognitive dysfunctions, ToM has been less extensively studied, especially in the young population. The aim of the study was to compare advanced ToM between groups of young people diagnosed with OCD, TS, or ASD and a control group. METHODS: Clinical interviews were conducted with male patients aged between 11 and 17 years with a main diagnosis of OCD (n = 19), TS (n = 14), or ASD (n = 18), and a control group (n = 20). We administered instruments for estimating intelligence quotient and severity of psychiatric symptoms, and tasks to evaluate ToM (the "Stories from everyday life" task and the "Reading the mind in the eyes" test). RESULTS: Young people with TS and with ASD present similar difficulties in solving advanced ToM tasks, whereas patients with childhood-onset OCD present similar results to controls. CONCLUSIONS: ToM is altered in other neurodevelopmental disorders beyond ASD, such as TS.

Trastornos de tics e impulso premonitorio: validación de la versión espñola de la «Escala para el Impulso Premonitorio al Tic» en niños y adolescentes / Tic disorders and premonitory urges: validation of the Spanish-language version of the Premonitory Urge for Tics Scale in children and adolescents

Introducción: La mayoría de personas con tics persistentes refiere notar una sensación des-agradable (impulso premonitorio) antes de sufrir un tic. En los últimos a ̃nos, el interés haciaestos fenómenos sensoriales ha aumentado debido al importante papel que tienen en la terapiade conducta. Sin embargo, los instrumentos para evaluarlos aún son escasos. Entre ellos, laEscala para el Impulso Premonitorio al Tic (Premonitory Urge for Tics Scale, PUTS) es el másutilizado. Métodos: Examinamos las propiedades psicométricas y la estructura factorial de la versiónespa ̃nola de la PUTS en una muestra de 72 ni ̃nos y adolescentes con síndrome de Tourette otrastorno de tics persistentes. Analizamos los datos para el total de la muestra y por grupos deedad (ni ̃nos hasta los 10 a ̃nos y mayores de 10 a ̃nos). Resultados: La PUTS obtuvo una buena consistencia interna y correlaciones moderadas entreítems de la escala (excepto en el ítem uno). Se encontró una buena validez divergente, unaadecuada fiabilidad test-retest y una estructura bifactorial (con una dimensión de fenómenosmentales relacionados con el trastorno obsesivo-compulsivo y otra sobre las cualidades y fre-cuencia de los impulsos premonitorios). Estos resultados se replicaron para ambos grupos deedad, excepto la validez divergente y la fiabilidad test-retest que fueron inferiores en el grupode menor edad.(AU)

Introduction: Most people with persistent tics report an unpleasant sensation (premonitoryurge) before the tic. In recent years, interest in these sensory phenomena has increased due totheir important role in behavioural therapy. However, instruments for assessing these sensationsremain scarce. Among the available instruments, the Premonitory Urge for Tics Scale (PUTS) isthe most widely used. Methods: We examined the psychometric properties and factor structure of the Spanish-language version of the PUTS in a sample of 72 children and adolescents with Tourette syndromeor persistent tic disorders. We analysed data from the total sample and by age group (childrenup to 10 years old and children/adolescents over 10). Results: The PUTS presented good internal consistency and moderate correlations betweenitems on the scale (except for item one). Divergent validity was good, test-retest reliabilitywas adequate, and a bifactorial structure was identified (one dimension related to mentalphenomena reported in obsessive-compulsive disorder, and another related to the quality andfrequency of premonitory urges). These results were replicated in both age groups, with lowerdivergent validity and test-retest reliability in the younger group.Conclusions: The Spanish-language version of the PUTS is a valid, reliable tool for assessingpremonitory urges in both children and adolescents, especially after the age of 10.(AU)

Impact of the COVID-19 pandemic on the mental health of the general population and health care workers.

The Health Sciences Foundation has assembled a multidisciplinary group around a series of questions about the impact of the COVID-19 pandemic on the mental health of the general population and specific groups within that population, particularly healthcare workers. In the general population, the most prevalent mental disorders have been anxiety, sleep disorders and affective disorders, primarily depression. There has been a considerable increase in suicidal behavior, especially in young women and men over 70 years of age. There has been an increase in alcohol abuse and nicotine, cannabis and cocaine use. In contrast, the use of synthetic stimulants during periods of confinement has decreased. With regard to non-substance addictions, gambling was very limited, pornography consumption increased significantly and there was an increase in compulsive shopping and the use of video games. Particularly vulnerable groups include adolescents and patients with autism spectrum disorders. Healthcare workers suffered an increase in depression, anxiety and post-traumatic stress, especially those who were exposed during the early stages of the pandemic. Female sex, being a nurse, proximity to patients with COVID-19, working in a rural environment and having previous psychiatric or organic illnesses were some of the most frequently repeated factors in various studies in this population group. The media have shown a good degree of knowledge about these problems and have dealt with them frequently and from the point of view of ethics, crisis situations, such as the one experienced, have triggered not only physical but also moral claudications.

Tic disorders and premonitory urges: validation of the Spanish-language version of the Premonitory Urge for Tics Scale in children and adolescents.

INTRODUCTION: Most people with persistent tics report an unpleasant sensation (premonitory urge) before the tic. In recent years, interest in these sensory phenomena has increased due to their important role in behavioural therapy. However, instruments for assessing these sensations remain scarce. Among the available instruments, the Premonitory Urge for Tics Scale (PUTS) is the most widely used. METHODS: We examined the psychometric properties and factor structure of the Spanish-language version of the PUTS in a sample of 72 children and adolescents with Tourette syndrome or persistent tic disorders. We analysed data from the total sample and by age group (children up to 10 years old and children/adolescents over 10). RESULTS: The PUTS presented good internal consistency and moderate correlations between items on the scale (except for item 1). Divergent validity was good, test-retest reliability was adequate, and a bifactorial structure was identified (one dimension related to mental phenomena reported in obsessive-compulsive disorder, and another related to the quality and frequency of premonitory urges). These results were replicated in both age groups, with lower divergent validity and test-retest reliability in the younger group. CONCLUSIONS: The Spanish-language version of the PUTS is a valid, reliable tool for assessing premonitory urges in both children and adolescents, especially after the age of 10.

Theory of mind in neurodevelopmental disorders: Beyond autistic spectrum disorder. / Teoría de la mente en trastornos del neurodesarrollo: más allá del trastorno del espectro autista.

INTRODUCTION: Theory of mind (ToM) is the human ability to perceive, interpret, and attribute the mental states of other people, and the alteration of this cognitive function is a core symptom of autistic spectrum disorder (ASD). In such other neurodevelopmental disorders as childhood-onset obsessive-compulsive disorder (OCD) and Tourette syndrome (TS) that can present with cognitive dysfunctions, ToM has been less extensively studied, especially in the young population. The aim of the study was to compare advanced ToM between groups of young people diagnosed with OCD, TS, or ASD and a control group. METHODS: Clinical interviews were conducted with male patients aged between 11 and 17 years with a main diagnosis of OCD (n=19), TS (n=14), or ASD (n=18), and a control group (n=20). We administered instruments for estimating intelligence quotient and severity of psychiatric symptoms, and tasks to evaluate ToM (the "Stories from everyday life" task and the "Reading the mind in the eyes" test). RESULTS: Young people with TS and with ASD present similar difficulties in solving advanced ToM tasks, whereas patients with childhood-onset OCD present similar results to controls. CONCLUSIONS: ToM is altered in other neurodevelopmental disorders beyond ASD, such as TS.

Tic disorders and premonitory urges: validation of the Spanish-language version of the Premonitory Urge for Tics Scale in children and adolescents. / Trastornos de tics e impulso premonitorio: validación de la versión española de la «Escala para el Impulso Premonitorio al Tic¼ en niños y adolescentes.

INTRODUCTION: Most people with persistent tics report an unpleasant sensation (premonitory urge) before the tic. In recent years, interest in these sensory phenomena has increased due to their important role in behavioural therapy. However, instruments for assessing these sensations remain scarce. Among the available instruments, the Premonitory Urge for Tics Scale (PUTS) is the most widely used. METHODS: We examined the psychometric properties and factor structure of the Spanish-language version of the PUTS in a sample of 72 children and adolescents with Tourette syndrome or persistent tic disorders. We analysed data from the total sample and by age group (children up to 10 years old and children/adolescents over 10). RESULTS: The PUTS presented good internal consistency and moderate correlations between items on the scale (except for item one). Divergent validity was good, test-retest reliability was adequate, and a bifactorial structure was identified (one dimension related to mental phenomena reported in obsessive-compulsive disorder, and another related to the quality and frequency of premonitory urges). These results were replicated in both age groups, with lower divergent validity and test-retest reliability in the younger group. CONCLUSIONS: The Spanish-language version of the PUTS is a valid, reliable tool for assessing premonitory urges in both children and adolescents, especially after the age of 10.

Tumor del estroma gastrointestinal / Gastrointestinal stromal tumour

No disponible

The Rare Neurocutaneous Disorders: Update on Clinical, Molecular, and Neuroimaging Features.

Phakomatoses, also known as neurocutaneous disorders, comprise a vast number of entities that predominantly affect structures originated from the ectoderm such as the central nervous system and the skin, but also the mesoderm, particularly the vascular system. Extensive literature exists about the most common phakomatoses, namely neurofibromatosis, tuberous sclerosis, von Hippel-Lindau and Sturge-Weber syndrome. However, recent developments in the understanding of the molecular underpinnings of less common phakomatoses have sparked interest in these disorders. In this article, we review the clinical features, current pathogenesis, and modern neuroimaging findings of melanophakomatoses, vascular phakomatoses, and other rare neurocutaneous syndromes that may also include tissue overgrowth or neoplastic predisposition.

The relative contribution of the medial and lateral femoral circumflex arteries to the vascularity of the head and neck of the femur: a quantitative MRI-based assessment.

AIMS: We aimed to quantify the relative contributions of the medial femoral circumflex artery (MFCA) and lateral femoral circumflex artery (LFCA) to the arterial supply of the head and neck of the femur. MATERIALS AND METHODS: We acquired ten cadaveric pelvises. In each of these, one hip was randomly assigned as experimental and the other as a matched control. The MFCA and LFCA were cannulated bilaterally. The hips were designated LFCA-experimental or MFCA-experimental and underwent quantitative MRI using a 2 mm slice thickness before and after injection of MRI-contrast diluted 3:1 with saline (15 ml Gd-DTPA) into either the LFCA or MFCA. The contralateral control hips had 15 ml of contrast solution injected into the root of each artery. Next, the MFCA and LFCA were injected with a mixture of polyurethane and barium sulfate (33%) and their extra-and intra-arterial course identified by CT imaging and dissection. RESULTS: The MFCA made a greater contribution than the LFCA to the vascularity of the femoral head (MFCA 82%, LFCA 18%) and neck (MFCA 67%, LFCA 33%). However, the LFCA supplied 48% of the anteroinferior femoral neck overall. CONCLUSION: This study clearly shows that the MFCA is the major arterial supply to the femoral head and neck. Despite this, the LFCA supplies almost half the anteroinferior aspect of the femoral neck. Cite this article: Bone Joint J 2016;98-B:1582-8.

[Second stage of labor: Does accelerations matter?]. / Segundo estadio del parto: importan las aceleraciones?

BACKGROUND: Accelerations role during the second stage of labor has not been studied and current classification system NICHD downplays its presence. The objective of this study is to determine validity for acidemia detection of the loss of accelerations during the second stage of labor. MATERIAL AND METHOD: This is a one year retrospective case-control study of 102 neonates with acidemia defined as an umbilical cord gas pH≤7.10 compared to 100 non acidemic controls. The last thirty minutes of CTG were evaluated by two obstetricians blind to clinical and outcome data that classified tracings into categories according to NICHD definitions, determining the presence or absence of accelerations. Validity of NICHD categories and absence of accelerations were calculated. RESULTS: 85% of fetuses presented a category II tracing in the last 30 minutes of labor. Absence of accelerations was associated with neonatal acidemia (ORa 4.43). Category II tracings were not associated with acidemia after adjusting for confounding factors.Validity of the absence of accelerations during the second stage of labor was higher in terms of sensitivity (80.3%), specificity (54%) and global value (67%) to that of the presence of a category II tracing (96%, 24% and 60% respectively) in this period. CONCLUSIONS: The absence of accelerations during the second stage of labor shows a bigger validity for neonatal acidemia than the presence of a category II tracing.

One-Year Follow-up of Children and Adolescents with Major Depressive Disorder: Relationship between Clinical Variables and Abcb1 Gene Polymorphisms.

Introduction: Differences in response to fluoxetine (FLX) may be influenced by certain genes that are involved in FLX transportation (ABCB1). We examined remission and recovery from the index episode in a cohort of patients treated with FLX, and also investigated associations between genetic variants in ABCB1 and remission, recovery, and suicide risk. Methods: This was a naturalistic 1-year follow-up study of 46 adolescents diagnosed with major depressive disorder (MDD). At 12 months they underwent a diagnostic interview with the K-SADS-PL. Results: It was found that remission was around 69.5% and recovery 56.5%. Remission and recovery were associated with lower scores on the CDI at baseline, with fewer readmissions and suicide attempts, and with lower scores on the CGI and higher scores on the GAF scale. No relationship was found between ABCB1 and remission or recovery. However, a significant association was observed between the G2677T ABCB1 polymorphism and suicide attempts. Conclusion: Other factors such as stressful events, family support, and other genetic factors are likely to be involved in MDD outcome.

Validation of the Spanish version of the Dimensional Yale-Brown Obsessive-Compulsive Scale (DYBOCS) in children and adolescents.

BACKGROUND: Obsessive-compulsive disorder (OCD) is best understood as a complex overlap of obsessive-compulsive (OC) symptom dimensions with specific clinical and etiological characteristics. The Dimensional Yale-Brown Obsessive-Compulsive Scale (DYBOCS) was developed to assess the presence and severity of each of these OC symptom dimensions. Despite showing excellent psychometric properties in adults, the psychometric properties of the DYBOCS have not been widely investigated in children and adolescents. METHODS: We examined the psychometric properties of the DYBOCS Spanish version in a sample of 97 OCD children and adolescents. RESULTS: The results of the psychometric analyses were excellent overall. The internal consistency for each OC symptom dimension was high, although somewhat lower than in previous studies with adult samples. The DYBOCS showed overall good convergent and divergent validity. Factors obtained from a principal component analysis corresponded with the five DYBOCS dimensions (aggressive; sexual/religious; contamination; symmetry; and hoarding) and each one accounted for approximately 20% of the variance. CONCLUSIONS: The DYBOCS is a valid instrument for assessing the frequency and severity of OC symptom dimensions in children and adolescents with OCD. The principal component analysis supported the division of OC symptoms into five dimensions. OCD is a heterogeneous disorder, and a dimensional approach can help to understand its clinical, etiological and treatment response characteristics.

Exon-focused genome-wide association study of obsessive-compulsive disorder and shared polygenic risk with schizophrenia.

Common single-nucleotide polymorphisms (SNPs) account for a large proportion of the heritability of obsessive-compulsive disorder (OCD). Co-ocurrence of OCD and schizophrenia is commoner than expected based on their respective prevalences, complicating the clinical management of patients. This study addresses two main objectives: to identify particular genes associated with OCD by SNP-based and gene-based tests; and to test the existence of a polygenic risk shared with schizophrenia. The primary analysis was an exon-focused genome-wide association study of 370 OCD cases and 443 controls from Spain. A polygenic risk model based on the Psychiatric Genetics Consortium schizophrenia data set (PGC-SCZ2) was tested in our OCD data. A polygenic risk model based on our OCD data was tested on previous data of schizophrenia from our group. The most significant association at the gene-based test was found at DNM3 (P=7.9 × 10(-5)), a gene involved in synaptic vesicle endocytosis. The polygenic risk model from PGC-SCZ2 data was strongly associated with disease status in our OCD sample, reaching its most significant value after removal of the major histocompatibility complex region (lowest P=2.3 × 10(-6), explaining 3.7% of the variance). The shared polygenic risk was confirmed in our schizophrenia data. In conclusion, DNM3 may be involved in risk to OCD. The shared polygenic risk between schizophrenia and OCD may be partially responsible for the frequent comorbidity of both disorders, explaining epidemiological data on cross-disorder risk. This common etiology may have clinical implications.

Influence of DAOA and RGS4 genes on the risk for psychotic disorders and their associated executive dysfunctions: A family-based study.

BACKGROUND: Glutamatergic neurotransmission dysfunction has classically been related to the aetiology of psychotic disorders. A substantial polygenic component shared across these disorders has been reported and molecular genetics studies have associated glutamatergic-related genes, such as d-amino acid oxidase activator (DAOA) and regulator of G-protein signalling 4 (RGS4) with the risk for psychotic disorders. Our aims were to examine: (i) the relationship between DAOA and RGS4 and the risk for psychotic disorders using a family-based association approach, and (ii) whether variations in these genes are associated with differences in patients' cognitive performance. METHODS: The sample comprised 753 subjects (222 patients with psychotic disorders and 531 first-degree relatives). Six SNPs in DAOA and 5 SNPs in RGS4 were genotyped. Executive cognitive performance was assessed with Trail Making Test B (TMT-B) and Wisconsin Card Sorting Test (WCST). Genetic association analyses were conducted with PLINK, using the transmission disequilibrium test (TDT) for the family-based study and linear regression for cognitive performance analyses. RESULTS: The haplotype GAGACT at DAOA was under-transmitted to patients (P=0.0008), indicating its association with these disorders. With regards to cognitive performance, the DAOA haplotype GAGGCT was associated with worse scores in TMT-B (P=0.018) in SZ patients only. RGS4 analyses did not report significant results. CONCLUSIONS: Our findings suggest that the DAOA gene may contribute to the risk for psychotic disorders and that this gene may play a role as a modulator of executive function, probably through the dysregulation of the glutamatergic signalling.

Clinical significance of psychiatric comorbidity in children and adolescents with obsessive-compulsive disorder: subtyping a complex disorder.

A promising approach in relation to reducing phenotypic heterogeneity involves the identification of homogeneous subtypes of OCD based on age of onset, gender, clinical course and comorbidity. This study aims to assess the sociodemographic characteristics and clinical features of OCD patients in relation to gender and the presence or absence of another comorbid disorder. The sample comprised 112 children and adolescents of both sexes and aged 8-18 years, all of whom had a diagnosis of OCD. Overall, 67 % of OCD patients had one comorbid diagnosis, 20.5 % had two such diagnoses and 2.6 % had three comorbid diagnoses. The group of OCD patients with a comorbid neurodevelopmental disorder had significantly more family history of OCD in parents (p = .049), as compared with the no comorbidity group and the group with a comorbid internalizing disorder, and they also showed a greater predominance of males (p = .013) than did the group with a comorbid internalizing disorder. The group of OCD patients with internalizing comorbidity had a later age of onset of OCD (p = .001) compared with both the other groups. Although the initial severity was similar in all three groups, the need for pharmacological treatment and for hospitalization due to OCD symptomatology was greater in the groups with a comorbid neurodevelopmental disorder (p = .038 and p = .009, respectively) and a comorbid internalizing disorder (p = .008 and p = .004, respectively) than in the group without comorbidity. Our findings suggest that two subtypes of OCD can be defined on the basis of the comorbid pathology presented. The identification of different subtypes according to comorbidity is potentially useful in terms of understanding clinical variations, as well as in relation to treatment management and the use of therapeutic resources.

The terminal branches of the medial femoral circumflex artery: the arterial supply of the femoral head.

This study investigates and defines the topographic anatomy of the medial femoral circumflex artery (MFCA) terminal branches supplying the femoral head (FH). Gross dissection of 14 fresh-frozen cadaveric hips was undertaken to determine the extra and intracapsular course of the MFCA's terminal branches. A constant branch arising from the transverse MFCA (inferior retinacular artery; IRA) penetrates the capsule at the level of the anteroinferior neck, then courses obliquely within the fibrous prolongation of the capsule wall (inferior retinacula of Weitbrecht), elevated from the neck, to the posteroinferior femoral head-neck junction. This vessel has a mean of five (three to nine) terminal branches, of which the majority penetrate posteriorly. Branches from the ascending MFCA entered the femoral capsular attachment posteriorly, running deep to the synovium, through the neck, and terminating in two branches. The deep MFCA penetrates the posterosuperior femoral capsular. Once intracapsular, it divides into a mean of six (four to nine) terminal branches running deep to the synovium, within the superior retinacula of Weitbrecht of which 80% are posterior. Our study defines the exact anatomical location of the vessels, arising from the MFCA and supplying the FH. The IRA is in an elevated position from the femoral neck and may be protected from injury during fracture of the femoral neck. We present vascular 'danger zones' that may help avoid iatrogenic vascular injury during surgical interventions about the hip.

Response of benthic foraminifera to organic matter quantity and quality and bioavailable concentrations of metals in Aveiro Lagoon (Portugal).

This work analyses the distribution of living benthic foraminiferal assemblages of surface sediments in different intertidal areas of Ria de Aveiro (Portugal), a polihaline and anthropized coastal lagoon. The relationships among foraminiferal assemblages in association with environmental parameters (temperature, salinity, Eh and pH), grain size, the quantity and quality of organic matter (enrichment in carbohydrates, proteins and lipids), pollution caused by metals, and mineralogical data are studied in an attempt to identify indicators of adaptability to environmental stress. In particular, concentrations of selected metals in the surficial sediment are investigated to assess environmental pollution levels that are further synthetically parameterised by the Pollution Load Index (PLI). The PLI variations allowed the identification of five main polluted areas. Concentrations of metals were also analysed in three extracted phases to evaluate their possible mobility, bioavailability and toxicity in the surficial sediment. Polluted sediment in the form of both organic matter and metals can be found in the most confined zones. Whereas enrichment in organic matter and related biopolymers causes an increase in foraminifera density, pollution by metals leads to a decline in foraminiferal abundance and diversity in those zones. The first situation may be justified by the existence of opportunistic species (with high reproduction rate) that can live in low oxic conditions. The second is explained by the sensitivity of some species to pressure caused by metals. The quality of the organic matter found in these places and the option of a different food source should also explain the tolerance of several species to pollution caused by metals, despite their low reproductive rate in the most polluted areas. In this study, species that are sensitive and tolerant to organic matter and metal enrichment are identified, as is the differential sensitivity/tolerance of some species to metals enrichment.