Gyrus rectus asymmetry predicts trait alexithymia, cognitive empathy, and social function in neurotypical adults.

Reduced empathy and elevated alexithymia are observed in autism spectrum disorder (ASD), which has been linked to altered asymmetry in brain morphology. Here, we investigated whether trait autism, empathy, and alexithymia in the general population is associated with brain morphological asymmetry. We determined left-right asymmetry indexes for cortical thickness and cortical surface area (CSA) and applied these features to a support-vector regression model that predicted trait autism, empathy, and alexithymia. Results showed that less leftward asymmetry of CSA in the gyrus rectus (a subregion of the orbitofrontal cortex) predicted more difficulties in social functioning, as well as reduced cognitive empathy and elevated trait alexithymia. Meta-analytic decoding of the left gyrus rectus annotated functional items related to social cognition. Furthermore, the link between gyrus rectus asymmetry and social difficulties was accounted by trait alexithymia and cognitive empathy. These results suggest that gyrus rectus asymmetry could be a shared neural correlate among trait alexithymia, cognitive empathy, and social functioning in neurotypical adults. Left-right asymmetry of gyrus rectus influenced social functioning by affecting the cognitive processes of emotions in the self and others. Interventions that increase leftward asymmetry of the gyrus rectus might improve social functioning for individuals with ASD.

Psychosocial Distress in Patients With Advanced CKD by Racial Group and Immigrant Status: A Canadian Cross-sectional Study.

RATIONALE & OBJECTIVE: Patients with advanced chronic kidney disease (CKD) have been reported to experience profound psychosocial distress. Other work has established that patients with CKD from marginalized populations (including individuals who on the basis of race often face racism and related discrimination, termed "racialization") experience health care inequities. Given limited information on the intersection of these 2 phenomena, we assessed the association of psychosocial distress with racialized status and immigrant status in Canadians with advanced CKD. STUDY DESIGN: Secondary analysis of cross-sectional data. SETTING & PARTICIPANTS: 536 patients with advanced CKD (estimated glomerular filtration rate<30mL/min/1.73m2, with or without kidney replacement therapy) from multiple clinical centers in Toronto. EXPOSURE: Racialized status (individuals who identify as Asian or as African, Caribbean, or Black Canadian), immigrant status, and combined immigrant-racialized status. OUTCOME: Psychosocial distress, defined as the presence of depression, anxiety, or social difficulties (ie, a score of≥10 points on the Patient Health Questionnaire 9, Generalized Anxiety Disorder 7, or Social Distress 16 scales, respectively). ANALYTICAL APPROACH: The independent associations of racialized status and immigrant status with psychosocial distress, depression, anxiety, and social difficulties were examined using univariable- and multivariable-adjusted logistic regression. RESULTS: Mean age of the 536 participants was 57±16 (SD) years, 62% were male, and 45% were immigrants. Of the sample, 58% were White, 22% were African, Caribbean, or Black Canadian, and 20% were Asian. Psychosocial distress was present in 36% of participants (depression in 19%, anxiety in 12%, and social difficulties in 31%). To assess the combined impact of racialized and immigrant status, we created a variable with mutually exclusive categories: White nonimmigrant, racialized nonimmigrant, White immigrant, and racialized immigrant participants. In our final multivariable-adjusted model, compared with White nonimmigrant participants, racialized immigrant participants were more likely to have psychosocial distress (OR, 2.96 [95% CI, 1.81-4.81]), depression (OR, 1.87 [95% CI, 1.05-3.34]), and social difficulties (OR, 3.36 [95% CI, 2.03-5.57]). Overall similar associations were seen for racialized nonimmigrants and for White immigrants. LIMITATIONS: Convenience sample; small subgroups; combined exposure variable grouping Asian and African, Caribbean, and Black participants together; lack of data about mechanisms. CONCLUSIONS: Both racialized and immigrant status based on self-report of demographic characteristics were associated with psychosocial distress among patients with advanced CKD. These patients may benefit from culturally competent psychosocial support. PLAIN-LANGUAGE SUMMARY: Psychosocial distress is frequent in patients with advanced chronic kidney disease and impacts quality of life and clinical outcomes. Psychosocial distress may be especially scarring in people who are racialized (marginalized on account of their membership in a particular racial group) and/or who are immigrants. We assessed the association of psychosocial distress with racialized and immigrant status in Canadians with advanced chronic kidney disease. Among 536 participants from multiple medical centers in Toronto, we found that racialized and immigrant participants were more likely to have psychosocial distress, depression, and social difficulties compared with White nonimmigrant participants. This is likely related to the multiple intersectional challenges, including experience with racism and discrimination that racialized immigrant patients may face. Further studies are needed to elucidate the specific factors that contribute to more distress. The potential impact of culturally competent and safe support for these patients will also need to be studied.

Disparities in quality of life, social distress and employment outcomes in Australian cancer survivors.

PURPOSE: To examine how socio-demographic, comorbidities and information needs influence quality of life (QoL) outcomes of survivors of breast, colorectal, or prostate cancer, non-Hodgkin lymphoma or melanoma. METHODS: Cross-sectional postal survey with eligible participants identified through a population-based cancer registry. QoL outcomes were assessed by EQ-5D-5L, social difficulties index (SDI) and, for those employed at diagnosis, current employment. Regression analyses explored associations between outcome variables and cancer type, age, time since diagnosis, residential location, socio-economic disadvantage, comorbidities and unmet information needs. Mediation analyses examined whether comorbidities and information needs explained relationships between outcome variables and socio-economic disadvantage. RESULTS: 2115 survivors participated. Mean EQ-5D-5L scores (mean = 0.84) were similar to population averages and SDI scores were low for the entire sample (mean = 3.80). In multivariate analyses, being aged over 80, greater socio-economic disadvantage, comorbidities and unmet information needs decreased EQ-5D-5L scores. Higher SDI scores were associated with socio-economic disadvantage, comorbidities and unmet information needs. Not being employed was associated with being aged over 50, more comorbidities and socio-economic disadvantage. Comorbidities but not information needs partially mediated the impact of socio-economic disadvantage on EQ-5D-5L and SDI accounting for 17% and 14% of the total effect of socio-economic disadvantage respectively. Neither comorbidities nor information needs mediated the association between socio-economic disadvantage and employment outcomes. CONCLUSIONS: To improve quality of life, survivorship care should be better tailored to address the needs of individuals given their overall health and impact of comorbidities, their age and type of cancer and not simply time since diagnosis.

Recovering the Capacity to Live outside of a Psychiatric Hospital: Impact of a Specialized Inpatient Program.

Deinstitutionalization in psychiatry led to a decrease in hospital beds, short hospital admissions focussed on symptoms reduction, and the development of ambulatory care. However, the needs of patients who despite symptoms reduction do not display the minimal competencies to live alone or in a sheltered accommodation, are not met in such a context. They usually go through long admissions and fail to improve. In 2016, we implemented a new inpatient program focused on fostering the development of the competencies needed to adapt to living outside the hospital; the aim of this study was to evaluate if it lead to the resolution of these situations or in contrary if it turned into a long stay unit. 116 patients admitted to the program between 2016 and 2018 were included in the study. They were psychiatric inpatients who had no home, did not find a place in a sheltered accommodation and couldn't be discharged. In the majority of cases, the situation was resolved within 180 days and the majority of patients was referred to a sheltered accommodation. Functional and symptom levels improved significantly over time. A specific focus on restoring competencies to live outside of hospital allows complex patients to improve their functional level and to find a place to live in the community within a relatively short time. While deinstitutionalization has been beneficial to the vast majority of patients, denying the specific needs of a minority of patients leads to unnecessary long and inefficient hospital admissions.

Impact of attention deficit hyperactivity disorder and gender differences on academic and social difficulties among adolescents in Qatari Schools.

BACKGROUND: To evaluate the social and academic impact of adolescents with Attention Deficit Hyperactivity Disorder (ADHD) and gender differences compared with their non-ADHD peers. METHODS: A cross-sectional descriptive study using a standardized rating scale of teacher observations was conducted in the schools of Qatar from 7th to 12th grades. Teachers completed Swanson, Nolan, and Pelham (SNAP-IV) rating scale questionnaires for the ADHD core symptoms together with nine questions to evaluate the academic and social difficulties in all participants. RESULTS: A total of 1775 students (mean age: 15 ± 1.5 years; boys/girls: 717/1058) were included in this study. Based on the SNAP-IV rating scale, 150 students were showing core symptoms of ADHD and classified as having ADHD (8.5%; boys/girls; 93/57) and 1625 students as non-ADHD peers (91.5%; boys/girls; 624/1001). Prevalence of ADHD among adolescent students is 8.5%, and it varied significantly between genders with 13% of boys and 5.4% of girls affected by this disorder. Adolescents with ADHD had more academic and social difficulties than their non-ADHD peers, the boys more so than the girls. Boys with inattentive subtype of ADHD had more academic difficulties than girls, while girls had more social difficulties than boys. CONCLUSION: The results of this study revealed that ADHD among adolescents is substantially associated with academic and social difficulties in the school environment. Gender differences among students with ADHD should be considered in the school and clinical environment.

Clinical and MRI Predictors of Conversion From Mild Behavioural Impairment to Dementia.

OBJECTIVE: As an analogy with mild cognitive impairment (MCI), the mild behavioral impairment (MBI) construct has been proposed as a diagnostic label for those presenting late-onset behavioral symptoms. To date, however, the clinical, cognitive, and structural imaging features associated with an increased risk of conversion from MBI to dementia are poorly understood. METHODS: We retrospectively analyzed the cognitive performance and structural brain MRI of 113 subjects, with a clinical follow-up of at least 4 years available. Subjects were randomly assigned to a Group A (56 subjects; age: 65.4 ± 7.9 years, 15 females, MMSE score: 28.4 ± 2.3)) or to a Group B (57 subjects, age: 66.6 ± 6.4, 17 females, MMSE score: 28.0 ± 1.4). In the Group A, cognitive and structural variables were compared between converters (at 4 years) and nonconverters and then verified in the Group B group. RESULTS: In the Group A, 14 patients converted to behavioral-variant of frontotemporal dementia (bv-FTD) and 4 to Alzheimer's Disease (AD). Converters presented at baseline lower executive function scores and total Theory of Mind (ToM scores), as well as more severe focal frontal atrophy. In the Group B, 13 subjects converted to bv-FTD and none to AD. The combination of the variables identified in the Group A significantly (p <0.001) discriminated between converters and nonconverters in the Group B with a sensitivity of 0.615 and a specificity of 1 (total accuracy 91.22%). CONCLUSION: The combined presence of executive deficit, impaired ToM, and presence of isolated frontal atrophy was associated with risk of progression from MBI to a clinically evident neurodegenerative condition, mainly bv-FTD, over a 4-year period.

Children and adolescents in the Psychiatric Emergency Department: a 10-year survey in Copenhagen County.

BACKGROUND: Knowledge on psychiatric emergencies in children and adolescents is limited. The Psychiatric Emergency Departments (PED) in Copenhagen enable the acute examination of children and adolescents 24 h a day, 7 days a week. However, very little is known about who presents to the PED, and the reason for their visit. AIM: To describe the prevalence and characteristics of presentations in PED and treatment provided. METHODS: A retrospective population based study comprising data of more than 4000 visitors presenting to PED from 2001-2010. In 2003 and 2006, two randomly chosen years, a more thorough analysis was performed, based on the individual emergency charts. Inter-rater reliability was high. RESULTS: Visits increased nearly threefold during the period. Symptom score for 2003 and 2006 revealed that more than one third of the visitors had suicidal ideation. Depressive and anxiety symptoms together with suicidal ideation rose significantly (P < 0.001). Psychoses and suicidal attempts remained unchanged. In one third of the visits, the discharge diagnosis was anxiety and stress-related disorders, followed by personality, behavioural and emotional disorders. Between 15% and 20% of the visits resulted in admission and more than 50% in referral for outpatient follow-up. CONCLUSIONS: The number of presenting psychiatric emergencies has increased over the last 10 years. Comparing symptoms from 2003 and 2006 showed a significant rise in their severity. This study highlights the need for 24-h access for acute evaluation by physicians skilled in child and adolescent psychiatry, and raises concern that the severity could increase.

Association among internalizing problems, white matter integrity, and social difficulties in children with autism spectrum disorder.

Autism spectrum disorder (ASD) is characterized by social difficulties and often accompanied by internalizing and externalizing problems, which are frequently overlooked. Here, we examined and compared fractional anisotropy (FA) between 79 children with ASD (aged 4-7.8 years) and 70 age-, gender-, and handedness- matched typically developing controls (TDCs, aged 3-7.2 years). We aimed to explore the relationship among social difficulties, internalizing and externalizing problems, and brain structural foundation (characterized by white matter integrity). Compared with the TDCs, the children with ASD exhibited more severe internalizing and externalizing problems, which were positively correlated with social difficulties. Reduced FA values were observed in specific white matter tracts that integrate a fronto-temporal-occipital circuit. In particular, the FA values within this circuit were negatively correlated with internalizing problems and SRS-TOTAL scores. Mediation analysis revealed that internalizing problems mediated the relationship between the FA values in the left middle longitudinal fasciculus (L-MdLF) and corpus callosum forceps major (CCM) and social difficulties in children with ASD. These findings contribute to our understanding of social difficulties, internalizing and externalizing problems, and white matter integrity in children with ASD and highlight internalizing problems as a mediator between social difficulties and white matter integrity.

Identifying Autistic-Like Symptoms in Children with ADHD: A Comparative Study Using ADOS-2.

Purpose: Recent literature has focused attention on the presence of autistic-like symptoms in children with Attention Deficit/Hyperactivity Disorder (ADHD), who often exhibit social difficulties, posing challenges for a distinct clinical diagnosis. The current study aimed to identify the specific pattern of autistic symptoms in subjects with ADHD or Autistic Spectrum Disorder (ASD), examining similarities or differences at both the domain and individual item levels. Patients and Methods: In this study, we enrolled 43 school-age children divided into the following: the ADHD group (n=25) consisted of children initially referred for ASD symptoms but subsequently clinically diagnosed with ADHD, and the ASD group consisted of 18 children with ASD. We used the Autism Diagnostic Observation Schedule, 2nd edition (ADOS-2), to examine relative differences in the presence of symptoms such as deficits in communication and social interaction, and restricted and repetitive behaviors in these two groups. Comparison between groups was conducted to explore differences in IQ, age, ADOS-2 domains, and externalizing and internalizing problems among the groups. Results: We found significant differences between the groups when comparing summary scores of ADOS-2 domains (Social Affect, Restricted and Repetitive Behavior, and Total Score). Interestingly, at the individual item level, the ADHD group exhibited a similar level of atypical behaviors compared to the ASD group in two items related to the social-communication area: "Pointing" and "Gestures". Additionally, the frequencies of "Stereotyped/idiosyncratic words or phrases", "Mannerisms", and "Repetitive interests and behaviors" also showed similarities between groups. Conclusion: These findings indicate the importance of exploring and developing potential transdiagnostic domains that could be targeted for treatments specifically designed for children with ADHD.

Impairments in Emotion Recognition and Positive Emotion Regulation Predict Social Difficulties in Adolescent With ADHD.

BACKGROUND: Emotional dysregulation, poor emotion recognition and impaired response inhibition have been highlighted as potential contributors to social difficulties in adolescents with attention-deficit/hyperactivity disorder (ADHD). It is currently unknown how these areas of impairment relate to one another; therefore, this study aims to identify the areas of emotion regulation which are associated with social difficulties in adolescents with ADHD, and determine whether emotion regulation mediates the relationship between deficits in response inhibition and emotion recognition, and social functioning, in this cohort. METHODS: Thirty Australian adolescents (Male = 21) with ADHD completed measures of response inhibition, emotion recognition, and emotion regulation. RESULTS: Positive emotion regulation was significantly associated with social difficulties. Although emotion recognition significantly predicted social difficulties, there was no relationship between emotion recognition and emotion regulation in this sample, ruling out emotion regulation as a mediator of emotion recognition and social difficulties. Whilst response inhibition was significantly correlated with positive emotion regulation, positive emotion regulation did not mediate the relationship between response inhibition and social difficulties. CONCLUSIONS: Difficulties recognising and regulating emotions appear to independently contribute to social difficulties in adolescents with ADHD. Interventions to increase emotional understanding and developing strategies to down-regulate positive emotions may be beneficial.

[Formula: see text]Persistent post-concussion symptoms in children: pre-injury social difficulties and acute stress reaction as risk factors.

Following mild traumatic brain injury (mTBI) children usually experience one or more somatic, cognitive, and/or emotional-behavioral post-concussion symptoms (PCS). PCS may be transient, however for some children, persistent post-concussion symptoms (PPCS) might linger for months or years. Identifying risk factors for PPCS may allow earlier interventions for patients at greater risk. We examined pre-injury social difficulties and acute stress reaction as risk factors to PPCS in children. Participants were 83 children (aged 8-16) with mTBI. In a prospective follow-up, pre-injury social difficulties, 24-hours post-concussion symptoms, and acute stress reactions were tested as predictors of one-week and four-months PCS reports. Parents' reports, self-reports, and neurocognitive tests were employed. One-week PCS level was associated with acute stress, and not with 24-hours post-concussion symptoms or pre-injury social difficulties. Four-months PCS level was predicted by pre-injury social difficulties and 24-hours post-concussion symptoms, with no contribution of acute stress. Interestingly, less symptoms at 24-hour from injury were associated with a higher level of PCS at four months. Cognitive functioning at four months was predicted by acute stress, with no contribution of 24-hours post-concussion symptoms or pre-injury social difficulties. Cognitive functioning did not differ between children with and without PPCS. In conclusion, non-injury, socio-emotional factors (pre-injury social difficulties, acute stress) should be considered, alongside injury-related factors, in predicting recovery from mTBI. Pre-injury social difficulties and stress reaction to the traumatic event might pose an emotional burden and limit one's social support during recovery, thus require clinical attention in children following mTBI.

Unexplored Needs of the Older Adults: Experiences From Elders Helpline in Bengaluru.

Elders Helpline has been operational in Bangalore by joint effort of the Nightingales Medical Trust (NMT) and the City Police since its inception in 2002. The Elders Helpline is unique as it is the first of its kind in India that offers services for the welfare of the older people in Bangalore city. The objectives of this article were to review the process of setting up of the helpline services, its evolution, range of services offered, to evaluate the services to ascertain the social difficulties with a focus on abuse experienced by the older people in Bangalore and find out the common themes. From the records, the Elders Helpline has responded to as many as 144058 calls between April 2009 and March 2020. This article reviewed functions of the Elders Helpline including supervision and training to its staff members, offering counselling to the Older adults by resolving family conflicts and other social issues by upholding and safeguarding their rights. The article highlights the need and impact of Elders Helpline suggesting the need to expand this type of Helpline to other Districts of the country. This study indicates that the Elders Helpline has become a platform for the elderly people to express their concerns and to make them feel secure. The Elders Helpline model is now launched nationally in October 2021 through the expansion of helpline services. There is a need to gather more comprehensive data and for ongoing research and training to reach out many needy older people.

Making Art Therapy Virtual: Integrating Virtual Reality Into Art Therapy With Adolescents.

In recent years, the field of art therapy has sought to adapt traditional treatment approaches to today's innovative technological environments when working with adolescent "digital natives." In their clinic, art therapists often struggle with lack of cooperation when treating adolescents during sessions. This article presents two case studies that explore how Virtual Reality (VR) technology can be combined with traditional art therapy to treat adolescents suffering from anxiety and social difficulties. It is suggested that this type of technology may lead to a better understanding of the needs of adolescents by adopting their vantage point and hence better outcomes.

Influence of post-migration living difficulties on post-traumatic symptoms in Chinese asylum seekers resettled in Italy.

BACKGROUND: Little is known about mental health and resettlement difficulties of Chinese asylum seekers fleeing China due to religious persecutions. AIM: This study explores main post-migration living difficulties (PMLD) in this population, with a focus on their role in post-traumatic stress disorder (PTSD). METHODS: A total of 67 patients (95.52% women, mean age 34.75 ± 7.63) were included in the study. The Harvard Trauma Questionnaire (HTQ) was used to assess PTSD, the List of Migration Experiences (LiMEs) was used for pre-migration and post-migration experiences (potentially traumatic events as well as living difficulties). The t-test was used to examine the differences in pre-migration and post-migration mean scores. Logistic regression was used to test the effect of pre-migration traumatic experiences (PMTE) and most frequent PMLD on having a PTSD. RESULTS: A total of 49 patients scored above the HTQ cut-off score for PTSD. As expected, traumatic experiences were concentrated in the pre-migration phase, while living difficulties were present in both phases but more frequently in the post-migration period. PMTE were significantly related to PTSD (OR 1.29, p = .01). However, three PMLD ('Feeling that you do not know where you will lend up tomorrow', 'Loneliness and boredom' and 'Not being able to find work') showed a significant interaction with PMTE, suggesting that their presence in the post-migration phase has a modulation effect by increasing the likelihood of PTSD. CONCLUSION: This study extends to Chinese asylum seekers the previous evidence that PMLD have a significant role in the likelihood to have a PTSD after landing in the host country.

Time Management by Young People in Social Difficulties: Suggestions for Improving Their Life Trajectories.

This article covers the responses provided by professional practitioners in socio-educational intervention who are responsible for young people in social difficulties, in other words those facing personal and social issues that stop them from leading a normal life. It considers their suggestions for helping young people to better their lives by becoming autonomous, as well as to manage and use their time in their transition to adulthood. A qualitative study was conducted that used an open, ad-hoc questionnaire administered to thirty participants (Madrid, Spain), in which the data analysis involved MAXQDA Analytics Pro 2020 software. The results identify suggestions at macrosocial level targeting the system, legal status, therapy, safety nets, education and the range and provision of social services. On another level, suggestions for improvement were identified in an immediate setting in which the young people interact with agencies, practitioners and counsellors. An initial level featured mostly statements of support for autonomy from the system and social services. The second level contained mainly suggestions for agencies, centres and social services. The conclusion is that there are implications at different levels of social ecology according to Bronfenbrenner's model (1994). The practical suggestions for young people's self-sufficiency in the use and management of their time should therefore be flexible, linked and cater for their more therapeutic needs through to their leisure time.

Participation and attitudes towards gambling in Ghanaian youth: an exploratory analysis of risk and protective factors.

PURPOSE: There is little information on youth gambling in Ghana even though there is an unprecedented emergence of various types of gambling and gambling venues throughout the country. The aim of this cross-sectional exploratory study was to examine the role of perceived social difficulties and perceived protective social factors in participation and attitudes of Ghanaian youth towards gambling using data from a school-based survey (n = 770). METHODS: Participants completed measures on perceived social difficulties, perceived protective social factors, attitudes towards gambling and participation in four types of gambling. RESULTS: Sports betting was the most common form of gambling. There were significant differences in gambling participation with males gambling more than females. Youth who reported more perceived social difficulties from family and friends had a more positive attitude and a negative attitude towards gambling, respectively. Youth who reported higher protective social factors from family and teachers were less likely to have a negative attitude towards gambling. In all situations, high frequency gambling resulted in a more positive attitude towards gambling. CONCLUSION: Perceived social difficulties influences Ghanaian youths to have a positive attitude towards gambling, however, protective social factors from family and teachers may help youth to have a negative attitude towards gambling, gamble less and consequently achieve academic success.

Sensory Processing Issues and Their Association with Social Difficulties in Children with Autism Spectrum Disorders.

Sensory processing issues have been frequently reported in individuals with Autism Spectrum Disorders (ASD), but their relationship with social and overall adaptive functioning has not been extensively characterized to date. Here, we investigate how sensory processing atypicalities relate with deficits in social skills, impaired social cognition, and general adaptive functioning in a group of preschoolers with ASD. Sixty-four children with ASD aged 3 to 6 were included in this study, along with 36 age-matched typically-developing (TD) peers. Parent-reported measures of sensory processing, social difficulties and overall adaptive functioning were collected for all children. We also obtained precise measures of social attention deployment using a custom-design eye-tracking task depicting naturalistic social scenes. Within the group of children with ASD, higher intensities of sensory issues were associated with more prominent social difficulties and lower adaptive functioning. We also found that children with ASD who had more sensory issues showed visual exploration patterns of social scenes that strongly deviated from the one seen in the TD group. The association of sensory processing atypicalities with "higher-order" functional domains such as social and adaptive functioning in children with ASD stresses the importance of further research on sensory symptoms in autism.

Bifocal germinoma in a patient with 16p11.2 microdeletion syndrome.

Intracranial germinomas are rare tumors affecting mostly patients at young age. Therefore, molecular data on its etiopathogenesis are scarce. We present a clinical case of a male patient of 25 years with an intracranial germinoma and a 16p11.2 microdeletion. His initial complaints were related to obesity, loss of facial hair and polydipsia. He also had a history of social-interaction difficulties during childhood. His blood tests were consistent with hypogonadotropic hypogonadism and secondary adrenal insufficiency, and he had been previously diagnosed with hypothyroidism. He also presented with polyuria and polydipsia and the water deprivation test confirmed the diagnosis of diabetes insipidus. His sellar magnetic resonance imaging (MRI) showed two lesions: one located in the pineal gland and other in the suprasellar region, both with characteristics suggestive of germinoma. Chromosomal microarray analysis was performed due to the association of obesity with social disability, and the result identified a 604 kb 16p11.2 microdeletion. The surgical biopsy confirmed the histological diagnosis of a germinoma. Pharmacological treatment with testosterone, hydrocortisone and desmopressin was started, and the patient underwent radiotherapy (40 Gy divided in 25 fractions). Three months after radiotherapy, a significant decrease in suprasellar and pineal lesions without improvement in pituitary hormonal deficiencies was observed. The patient is currently under follow-up. To the best of our knowledge, we describe the first germinoma in a patient with a 16p11.2 deletion syndrome, raising the question about the impact of this genetic alteration on tumorigenesis and highlighting the need of molecular analysis of germ cell tumors as only little is known about their genetic background. Learning points: Central nervous system germ cell tumors (CNSGTs) are rare intracranial tumors that affect mainly young male patients. They are typically located in the pineal and suprasellar regions and patients frequently present with symptoms of hypopituitarism. The molecular pathology of CNSGTs is unknown, but it has been associated with gain of function of the KIT gene, isochromosome 12p amplification and a low DNA methylation. Germinoma is a radiosensitive tumor whose diagnosis depends on imaging, tumor marker detection, surgical biopsy and cerebrospinal fluid cytology. 16p11.2 microdeletion syndrome is phenotypically characterized by developmental delay, intellectual disability and autism spectrum disorders. Seminoma, cholesteatoma, desmoid tumor, leiomyoma and Wilms tumor have been described in a few patients with 16p11.2 deletion. Bifocal germinoma was identified in this patient with a 16p11.2 microdeletion syndrome, which represents a putative new association not previously reported in the literature.

Face processing in 22q11.2 deletion syndrome: atypical development and visual scanning alterations.

BACKGROUND: Previous research links social difficulties to atypical face exploration in 22q11.2 deletion syndrome (22q11.2DS). Two types of face processing are distinguished: configural (CFP) and featural (FFP). CFP develops later in life and plays an important role in face and emotion recognition abilities. Recent studies reported atypical development of CFP in several neurodevelopmental disorders. Taking previous reports of atypical face exploration one step further, our study aims at characterizing face processing in children and adolescents with 22q11.2DS. First, we sought to identify biases in the first two fixation positions on faces and to detect differences between CFP and FFP in 22q11.2DS using eye-tracking technology. Second, we investigated the developmental trajectories of CFP and FFP using accuracy data from follow-up evaluation. METHODS: Seventy-five individuals with 22q11.2DS and 84 typically developed (TD) individuals (aged 6-21 years) completed a discrimination task ("Jane task") inducing CFP and FFP in an eye-tracking setting. Thirty-six individuals with 22q11DS and 30 TD from our sample completed a longitudinal follow-up evaluation. RESULTS: Findings revealed that individuals with 22q11.2DS demonstrate an early bias toward the mouth region during the initial fixations on the faces and reduced flexibility exploration of the faces, with a reduced number of transitions between faces and longer fixations compared to the TD group. Further, scanpaths did not differ between CFP and FFP in the 22q11.2DS group. Longitudinal analysis of accuracy data provided evidence for atypical development of CFP in 22q11.2DS. CONCLUSIONS: The current study brings new evidence of altered face exploration in 22q11.2DS and identifies developmental mechanisms that may contribute to difficulties impacting social interactions in the syndrome.

Theory of mind, emotional and social functioning, and motor severity in children and adolescents with dystonic cerebral palsy.

AIMS: This cross-sectional study aimed to investigate whether children and adolescents with dystonic cerebral palsy (CP) present with emotional and social difficulties along side motor limitations. PARTICIPANTS/MEASURES: Twenty-two verbal and nonverbal children and adolescents with dystonic CP were compared with a normative sample of twenty children and adolescents on measures of theory of mind (ToM), emotion regulation (ER), and social difficulties (SD). RESULTS: Higher social and emotional difficulties were found in the dystonic CP group compared to the control group. Nonverbal participants with dystonic CP were found to present with greater social impairment and lower ToM ability than their verbal counterparts. Emotional regulation and hyperactivity and attentional difficulties (HAD) significantly predicted ToM ability and social difficulties. Lower Gross Motor Function Classification System (GMFCS) level and IQ also contributed to differences in ToM ability. INTERPRETATION: Findings support the need for greater attention to the emotional health and social development of children/adolescents with dystonic CP, along with assessments of motor difficulties in the planning and implementation of interventions and individual care plans. Further research is needed to explore links between motor disorder and mental state understanding in this clinical group.