Executive dysfunction has been shown to be a promising endophenotype in neurodevelopmental disorders such as autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD). This ...article reviewed 26 studies that examined executive function comparing ASD and/or ADHD children. In light of findings from this review, the ASD + ADHD group appears to share impairment in both flexibility and planning with the ASD group, while it shares the response inhibition deficit with the ADHD group. Conversely, deficit in attention, working memory, preparatory processes, fluency, and concept formation does not appear to be distinctive in discriminating from ASD, ADHD, or ASD + ADHD group. On the basis of neurocognitive endophenotype, the common co-occurrence of executive function deficits seems to reflect an additive comorbidity, rather than a separate condition with distinct impairments.
Autism Spectrum Disorder (ASD) has historically been studied, known, and diagnosed in males. Females tend to remain unidentified, especially those with average intelligence abilities. This sex/gender ...difference might be partially explained by biological risk factors, but it is probably also bound to methodological issues. The present study aims to examine phenotypic characteristics (cognitive, emotive, socio-communicative, and academic) of a group of 54 females with ASD matched to a group of 55 males with ASD (3-18 years), all without cognitive impairment. Results suggest that there are subtle, yet potentially meaningful, quantitative, and qualitative phenotypic differences between females and males that common screening tests are not always sensitive enough to recognize. Further studies to improve practice and course for the assessment of females, reducing sex/gender-based inequities in ASD care, are required.
Over the last few years, new studies focused their attention on the gender-related features in high-functioning autism spectrum disorder (HFA), often leading to controversial results. Another ...interesting aspect of these subtype of patients is linked to the complexity of clinical presentation, where besides core symptoms, other co-occurrence disorders may complicate the diagnostic evaluation. Therefore, we retrospectively studied 159 HFA patients, male and female, investigating their comorbidities and to find any gender difference. For each patient, were evaluated the presence/absence, type and gender distribution of psychopathological comorbidities, according to DSM-5 diagnostic criteria. The total sample was divided in 100 male and 59 female patients, age and intelligence quotient matched. In our sample, the psychiatric comorbidities observed were Attention Deficit Hyperactivity Disorder, Anxiety Disorders, Depressive Disorders, Bipolar Disorder, Obsessive-Compulsive Disorder, and Anorexia Nervosa. No statistical significant differences were found between male and female HFA patients comorbidities except for Anorexia Nervosa. In both male and female patients, attention deficit and hyperactivity disorder and anxiety disorders were found in high percentage. In conclusion, our investigation showed that a statistical significant difference of comorbidity between male and female HFA patients was found only for AN diagnosis. However, the question about the distinction between female and male HFA patients remains quite interesting and an open area of research for future studies.
Paroxysmal dyskinesias are episodic movement disorders that can be inherited or are sporadic in nature. The pathophysiology underlying these disorders remains largely unknown but may involve ...disrupted ion homeostasis due to defects in cell-surface channels or nutrient transporters. In this study, we describe a family with paroxysmal exertion-induced dyskinesia (PED) over 3 generations. Their PED was accompanied by epilepsy, mild developmental delay, reduced CSF glucose levels, hemolytic anemia with echinocytosis, and altered erythrocyte ion concentrations. Using a candidate gene approach, we identified a causative deletion of 4 highly conserved amino acids (Q282_S285del) in the pore region of the glucose transporter 1 (GLUT1). Functional studies in Xenopus oocytes and human erythrocytes revealed that this mutation decreased glucose transport and caused a cation leak that alters intracellular concentrations of sodium, potassium, and calcium. We screened 4 additional families, in which PED is combined with epilepsy, developmental delay, or migraine, but not with hemolysis or echinocytosis, and identified 2 additional GLUT1 mutations (A275T, G314S) that decreased glucose transport but did not affect cation permeability. Combining these data with brain imaging studies, we propose that the dyskinesias result from an exertion-induced energy deficit that may cause episodic dysfunction of the basal ganglia, and that the hemolysis with echinocytosis may result from alterations in intracellular electrolytes caused by a cation leak through mutant GLUT1.
Hyperprolactinemia and glucose and lipid metabolism abnormalities are often found in patients with schizophrenia and are generally considered secondary to the use of antipsychotic drugs. More recent ...studies have shown these same neuroendocrine and metabolic abnormalities in antipsychotic naïve patients with first episode psychosis (FEP), rising the hypothesis that schizophrenia itself may be related to an abnormal regulation of prolactin secretion and to impaired glucose tolerance. The aim of this study was to compare prolactin levels, glycometabolism parameters and lipid profile between a sample of 31 drug-naive adolescents in the acute phase of FEP and a control group of 23 subjects at clinical high risk (CHR) of developing psychosis.
The assessment involved anthropometric data (weight, height, BMI index, pubertal stage) and blood tests (levels of glucose, glycated hemoglobin, serum insulin, triglycerides, total and fractionated cholesterol, prolactin). Insulin resistance (IR) was calculated through the homeostatic model of assessment (HOMA-IR), assuming a cut-off point of 3.16 for adolescent population. FEP patients and CHR controls were compared by using Student's t-distribution (t-test) for parametric data. P < 0.05 was considered significant.
Significant higher level of prolactin was found in FEP group than in CHR group (mean = 28.93 ± 27.16 vs 14.29 ± 7.86, P = 0.009), suggesting a condition of hyperprolactinemia (HPRL). Patients with FEP were more insulin resistant compared to patients at CHR, as assessed by HOMA-IR (mean = 3.07 ± 1.76 vs 2.11 ± 1.11, P = 0.043). Differences of fasting glucose (FEP = 4.82 ± 0.71, CHR = 4.35 ± 0.62, P = 0.016) and HbA1c (FEP = 25.86 ± 13.31, CHR = 33.00 ± 2.95, P = 0.013), were not clinically significant as the mean values were within normal range for both groups. No significant differences were found for lipid profile. A BMI value within the range of normal weight was found for both groups, with no significant differences.
We suggested that HPRL, increase in HOMA-IR, and psychotic symptoms may be considered different manifestations of the acute onset of schizophrenia spectrum psychosis, with a common neurobiological vulnerability emerging since adolescence. The influence of age and gender on clinical manifestations of psychotic onset should be considered for early prevention and treatment of both schizophrenia spectrum psychosis and neuroendocrine-metabolic dysfunctions.
Schizophrenia and affective spectrum disorders (ASD) typically begin in adolescence or early adulthood. The pathophysiological mechanisms underlying these disorders are still not fully understood, ...and recent studies have suggested an involvement of dysfunctions in cardiometabolic and neuroendocrine systems at the onset of both disorders. In this context, we aimed to assess thyroid function, prolactin level, glucose metabolism, and lipid profile in drug naive adolescents, comparing patients with first episode of schizophrenia spectrum disorders (SSD) and patients with ASD. We performed a retrospective chart review from inpatients aged from ten to eighteen years, referred to Child and Adolescent Psychiatric Unit of University of Bari "Aldo Moro" over a period of 4 years, with diagnosis of SSD (n=30) or ASD (n=22), according to Diagnostic and Statistical Manual for Mental Disorders-fifth edition (DSM-5) criteria. Data on serum prolactin, glucose, insulin, total cholesterol, high density lipoprotein cholesterol, low density lipoprotein cholesterol, triglycerides, thyroid stimulating hormone, free triiodothyronin, and free thyroxin were collected, and the insulin resistance (IR) indexes "HOMA1-IR" and "HOMA2-IR" were calculated. The multivariable linear regression models, adjusting for potential confounding factors (age, sex, and BMI), showed HOMA1-IR (p=0.001), HOMA2-IR (p=0.002), glucose (p=0.004), insulin (p=0.004) and free thyroxin (p<0.001) values higher in the SSD group than in ASD. No others significant differences were found. Our findings suggest the need for a metabolic and endocrine screening at the onset of SSD and ASD, particularly for indexes of IR, that is a testable and treatable risk factor for cardiometabolic diseases. Further studies are required to better understand the role of endocrinological and metabolic dysfunctions at the onset of severe mental illness also considering influencing factors as age, gender, and BMI.
Children and adolescents and low-income individuals are considered particularly vulnerable for mental health implications during the current COVID-19 pandemic. Depression is a frequent negative ...emotional response during an epidemic outbreak and is also prone importantly to environmental risk like stressors derived from income inequality. We aimed to assess depressive symptomatology in a sample of Italian low-income minors during the COVID-19 outbreak. We hypothesized that the stronger were the negative effects of the pandemic on socioeconomic conditions, the higher would have been the risk for showing depressive symptoms.
We performed a cross-sectional study during July 2020, at the end of the Italian first wave of COVID-19 pandemic. We recruited 109 Italian socioeconomically disadvantaged children and adolescents from 7 to 17 years. We used an online survey to collect socio-demographic and clinical data and information about pandemic-related stressors and to assess depressive symptoms with the Children's Depression Inventory 2 (CDI 2), Parent Version (Emotional Problems subscale) and Self-Report Short Form. We performed logistic regression analysis to assess the association between depressive symptoms and potential risk factors for mental health.
22% and 14% of participants showed depressive symptoms at the CDI 2 Parent Version and Self-Report, respectively. Participants coming from families experiencing a lack of basic supplies during the pandemic (34.9%) were more expected to show depressive symptoms at CDI 2 Parent Version. Participants with a pre-existing neuropsychiatric diagnosis (26.6%) were more likely to exhibit depressive symptoms measured by CDI 2 Parent Version.
The results of our study showed that a group of Italian socioeconomically disadvantaged children and adolescents were more vulnerable to depressive symptoms if they suffered from a paucity of essential supplies during the pandemic or had pre-existing neurodevelopmental disorders. The promotion of educational and child-care programs and activities could be crucial in sustaining the prevention of mental distress in those frail subjects who particularly need support outside the family. Further studies are needed to detect effective preventive and therapeutic strategies to adopt promptly in the case of another pandemic wave.
Non-suicidal self-injury (NSSI) is a significant public health issue that particularly affects female adolescents usually emerging during puberty, with a subsequent reduction and even remission in ...the phenomenon later in life. The dysregulation of the hormonal stress response, particularly cortisol and dehydroepiandrosterone sulfate (DHEA-S), whose levels increase markedly during pubertal adrenarche, has been associated with the development and maintenance of a wide range of emotional disorders. Our study aims to investigate whether different cortisol-DHEA-S response patterns could be associated with the main motivational moderators to engage NSSI as well as with urgency and motivation to stop NSSI in a sample of female adolescents. We found significant correlations between stress hormones and several factors that support and sustain NSSI, specifically: cortisol levels and distressing/upsetting urge (r = 0.39 and a
= 8.94 × 10
) and sensation seeking (r = -0.32 and a
= 0.04), as well as cortisol/DHEA-s ratio and external emotion regulation (r = 0.40 and a
= 0.01) and desire to stop NSSI (r = 0.40 and a
= 0.01). Cortisol and DHEA-S may play a role in NSSI through the regulation of stress responses and affective states. Such results could have implications for the development of new and improved treatment and prevention plans for NSSI.
Depressive disorders (DDs) and non-suicidal self-injury (NSSI) are important juvenile mental health issues, showing alarming increasing rates. They frequently co-occur, mainly among adolescents, ...increasing the suicide risk. We aimed to compare the clinical features of two groups of adolescents with DDs, differed by their engagement or not in NSSI ("DD + NSSI" and "DD"). We hypothesized that NSSI would characterize particularly severe forms of DDs suitable for becoming specific phenotypes of adolescent depression. We enrolled 56 adolescents (11-17 years) diagnosed with a DD according to the DSM-5 criteria. They were assessed for NSSI endorsement (Ottawa Self-Injury Inventory), depressive symptoms (Children's Depression Inventory 2), emotional dysregulation (Difficulties in Emotional Regulation Scale), and anxiety symptoms (Screen for Child Anxiety-Related Emotional Disorders). The two groups accounted for 31 ("DD + NSSI") and 25 ("DD") individuals. The "DD + NSSI" group had significantly higher suicidal ideation (
0.0039), emotional dysregulation (
0.0092), depressive symptoms (
0.0138), and anxiety symptoms (
0.0153) than the "DD" group. NSSI seemed to characterize more severe phenotypes of adolescent depression, applying for a potential role as a "specifier" of DDs, describing relevant information for their management. Further studies are needed to support this hypothesis and its potential opportunities for prevention and treatment.
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