Glucose Metabolism, Thyroid Function, and Prolactin Level in Adolescent Patients With First Episode of Schizophrenia and Affective Disorders

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

Vitamin D Deficiency in Autism Spectrum Disorder: A Cross-Sectional Study

Vitamin D plays a role in central nervous system (CNS) development. Recent literature focused on Vitamin D status in children and adolescents with autism spectrum disorder (ASD), but with inconsistent results. Our case-control study is aimed at evaluating serum 25-hydroxyl-Vitamin D (25(OH)D) concentration in children with ASD (ASD group, n=54) compared to children affected by other neurological and psychiatric disorders (non-ASD group, n=36). All patients were admitted at the Complex Operative Unit of Child Neuropsychiatry, Polyclinic of Bari, Italy. 25(OH)D was quantified by chemiluminescence immunoassay and level defined as: Deficiency (<20 ng/mL); insufficiency (20-30); normality (30-100); toxicity (>100). Statistical analysis was performed using SPSS20 (significance<0.05). The ASD group showed 25(OH)D a mean level significantly lower than control (p=0.014). Multivariable logistic regression analysis showed an association between ASD and Vitamin D deficiency (p=0.006). The nature of such association is unclear. Vitamin D deficiency may probably act as a risk factor for the development of ASD. Further studies are needed to unravel the role of Vitamin D in ASD etiology and investigate its therapeutic potential

Traumatic experiences in childhood and adolescence: a meta-analysis of prospective studies assessing risk for psychosis

Evidence of the association between traumatic experiences and psychosis are uncertain with respect to temporal order, clinical outcomes and the role of the age and genetic liability. The aim of the present meta-analysis was to explore the temporal relationship between the development of psychosis and traumatic exposure using prospective studies and to examine the role of moderation factors on overall effect sizes. Studies were identified by searching Embase-Ovid, PsycINFO (EBSCO), Pubmed, Scopus, Web of Science databases, and yielded an initial total of 9016 papers, leaving finally 23 after the screening process. Three sets of meta-analyses estimated the risk of developing psychotic experiences or full clinical psychosis by having experienced maltreatment by an adult or bullying by peers or parental death, using the random-effects model. Bullying by peers (OR = 2.28 [1.64, 4.34]), maltreatment by an adult (OR = 2.20 [1.72, 2.81]) and parental death (OR = 1.24 [1.06, 1.44]) all increased the risk of psychosis. Moderator analysis showed that negative effects of bullying were detected especially in those with genetic liability for psychosis and exposure to multiple trauma types; studies with higher prevalence of males showed a stronger risk for those exposed to parental death. No significant meta-regression was found between the risk of developing a full clinical psychosis or a psychotic experience. Lack of studies hampered the results about the age of trauma occurrence. The cumulative effect of being bullied from peers and experiencing other adversities during childhood and/or adolescence, together with genetic liability for psychosis, appears to confer the highest risk for developing psychotic symptoms later in life

ADHD and illegal conduct: a survey in Juvenile Justice Services in Puglia

Obiettivo. Obiettivo del nostro studio è stato quello di individuare possibili fattori psicopatologici correlati alla messa in atto di condotte antigiuridiche da parte di minori al loro primo reato, nonché eventuali altre variabili individuali, familiari, economiche e socioculturali correlate al fenomeno indagato. Materiali e metodi. È stato condotto uno studio longitudinale su minori della Regione Puglia (Distretto della Corte di Appello di Bari e Lecce) al loro primo reato. Lo studio ha comportato l’acquisizione di una serie di informazioni anagrafiche, familiari, scolastiche, comportamentali e cliniche dei minori arruolati lungo un arco di tempo di oltre un anno e seguiti in follow-up per 18 mesi. Per le sue finalità lo studio prevedeva l’utilizzo di due scale cliniche standardizzate (Youth Self-Report e Conners Adolescent Self Report Scale). Risultati. L’indagine ha fatto emergere alcune variabili psicologiche e psicopatologiche correlate alle condotte antisociali di minori al loro primo contatto con l’Autorità Giudiziaria, nonché altre familiari, sociali e scolastiche. Conclusioni. I risultati ottenuti confermano la necessità di una prevenzione primaria e secondaria su minori a rischio, attraverso interventi multidisciplinari, precoci, selettivi

14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies

Background: Chromosome 14q11-q22 deletion syndrome (OMIM 613457) is a rare contiguous gene syndrome. Two regions of overlap (RO) of the 14q12q21.1 deletion have been identified: a proximal region (RO1), including FOXG1(*164874), NKX2-1(*600635), and PAX9(*167416) and a distal region (RO2), including NKX2-1 and PAX9. We report a 6-year-old boy with mild dysmorphic facial features, global developmental delay, and hypoplasia of the corpus callosum. Methods and Results: Array-CGH analysis revealed a 14q12q13.2 microdeletion. We compared the phenotype of our patient with previously published cases in order to establish a genotype–phenotype correlation. Conclusion: The study hypothesizes the presence of a new RO, not including the previously reported candidate genes, and attempt to define the associated molecular and psychomotor/neurobehavioral phenotype. This region encompasses the distal breakpoint of RO1 and the proximal breakpoint of RO2, and seems to be associated with intellectual disability (ID), hypotonia, epilepsy, and corpus callosum abnormalities. Although more cases are needed, we speculated on SNX6(*606098) and BAZ1A(*605680) as potential candidate genes associated with the corpus callosum abnormalities

Abrupt intrinsic and extrinsic responses of southwestern Iberian vegetation to millennial-scale variability over the past 28 ka

We present new high-resolution pollen records combined with palaeoceanographic proxies from the same samples in deep-sea cores SHAK06-5K and MD01-2444 on the southwestern Iberian Margin, documenting regional vegetation responses to orbital and millennial-scale climate changes over the last 28 ka. The chronology of these records is based on high-resolution radiocarbon dates of monospecific samples of the planktonic foraminifera Globigerina bulloides, measured from SHAK06-5K and MD01-2444 and aligned using an automated stratigraphical alignment method. Changes in temperate and steppe vegetation during Marine Isotope Stage 2 are closely coupled with sea surface temperature (SST) and global ice-volume changes. The peak expansion of thermophilous woodland between ~10.1 and 8.4 cal ka bp lags behind the boreal summer insolation maximum by ~2 ka, possibly arising from residual high-latitude ice-sheets into the Holocene. Rapid changes in pollen percentages are coeval with abrupt transitions in SSTs, precipitation and winter temperature at the onset and end of Heinrich Stadial 2, the ice-rafted debris event and end of Heinrich Stadial 1, and the onset of the Younger Dryas, suggesting extrinsically forced southwestern Iberian ecosystem changes by abrupt North Atlantic climate events. In contrast, the abrupt decline in thermophilous elements at ~7.8 cal ka bp indicates an intrinsically mediated abrupt vegetation response to the gradually declining boreal insolation, potentially resulting from the crossing of a seasonality of precipitation threshold

Enhanced climate instability in the North Atlantic and southern Europe during the Last Interglacial.

Considerable ambiguity remains over the extent and nature of millennial/centennial-scale climate instability during the Last Interglacial (LIG). Here we analyse marine and terrestrial proxies from a deep-sea sediment sequence on the Portuguese Margin and combine results with an intensively dated Italian speleothem record and climate-model experiments. The strongest expression of climate variability occurred during the transitions into and out of the LIG. Our records also document a series of multi-centennial intra-interglacial arid events in southern Europe, coherent with cold water-mass expansions in the North Atlantic. The spatial and temporal fingerprints of these changes indicate a reorganization of ocean surface circulation, consistent with low-intensity disruptions of the Atlantic meridional overturning circulation (AMOC). The amplitude of this LIG variability is greater than that observed in Holocene records. Episodic Greenland ice melt and runoff as a result of excess warmth may have contributed to AMOC weakening and increased climate instability throughout the LIG

Long-term outcome of epilepsy in patients with prader–willi syndrome

Prader-Willi syndrome is a multisystemic genetic disorder that can be associated with epilepsy. There is insufficient information concerning the clinical and electroencephalographic characteristics of epilepsy and the long-term outcome of these patients. The aim of this study is to describe seizure types, electroencephalographic patterns and long-term seizure outcome in Prader-Willi syndrome patients suffering from epilepsy. We retrospectively studied 38 patients with Prader-Willi syndrome and seizures. Results of neuroimaging studies were obtained for 35 individuals. We subdivided these patients into two groups: group A, 24 patients, without brain lesions; and group B, 11 patients, with brain abnormalities. All patients were re-evaluated after a period of at least 10 years. Twenty-one patients (55.2 %) were affected by generalized epilepsy and 17 patients (44.8 %) presented focal epilepsy. The most common seizure type was generalized tonic-clonic seizure. The mean age at seizure onset was 4.5 years (ranged from 1 month to 14 years). In the follow-up period, seizure freedom was achieved in 32 patients (84.2 %). Seizure freedom was associated with electroencephalographic normalization, while the six children presenting drug-resistant epilepsy showed persistence of electroencephalographic abnormalities. Group B patients showed a higher prevalence of drug-resistant epilepsy. Patients with Prader-Willi syndrome were frequently affected by generalized seizures. Most of the patients had a favorable evolution, although, patients with brain abnormalities presented a worse outcome, suggesting that the presence of these lesions can influence the response to antiepileptic therapy.Prader–Willi syndrome is a multisystemic genetic disorder that can be associated with epilepsy. There is insufficient information concerning the clinical and electroencephalographic characteristics of epilepsy and the long-term outcome of these patients. The aim of this study is to describe seizure types, electroencephalographic patterns and long-term seizure outcome in Prader–Willi syndrome patients suffering from epilepsy. We retrospectively studied 38 patients with Prader–Willi syndrome and seizures. Results of neuroimaging studies were obtained for 35 individuals. We subdivided these patients into two groups: group A, 24 patients, without brain lesions; and group B, 11 patients, with brain abnormalities. All patients were re-evaluated after a period of at least 10 years. Twenty-one patients (55.2 %) were affected by generalized epilepsy and 17 patients (44.8 %) presented focal epilepsy. The most common seizure type was generalized tonic– clonic seizure. The mean age at seizure onset was 4.5 years (ranged from 1 month to 14 years). In the follow-up period, seizure freedom was achieved in 32 patients (84.2 %). Seizure freedom was associated with electroencephalographic normalization, while the six children presenting drug-resistant epilepsy showed persistence of electroencephalographic abnormalities. Group B patients showed a higher prevalence of drug-resistant epilepsy. Patients with Prader–Willi syndrome were frequently affected by generalized seizures. Most of the patients had a favorable evolution, although, patients with brain abnormalities presented a worse outcome, suggesting that the presence of these lesions can influence the response to antiepileptic therapy

Abrupt intrinsic and extrinsic responses of southwestern Iberian vegetation to millennial-scale variability over the past 28 ka

ABSTRACT: We present new high‐resolution pollen records combined with palaeoceanographic proxies from the same samples in deep‐sea cores SHAK06‐5K and MD01‐2444 on the southwestern Iberian Margin, documenting regional vegetation responses to orbital and millennial‐scale climate changes over the last 28 ka. The chronology of these records is based on high‐resolution radiocarbon dates of monospecific samples of the planktonic foraminifera Globigerina bulloides, measured from SHAK06‐5K and MD01‐2444 and aligned using an automated stratigraphical alignment method. Changes in temperate and steppe vegetation during Marine Isotope Stage 2 are closely coupled with sea surface temperature (SST) and global ice‐volume changes. The peak expansion of thermophilous woodland between ~10.1 and 8.4 cal ka bp lags behind the boreal summer insolation maximum by ~2 ka, possibly arising from residual high‐latitude ice‐sheets into the Holocene. Rapid changes in pollen percentages are coeval with abrupt transitions in SSTs, precipitation and winter temperature at the onset and end of Heinrich Stadial 2, the ice‐rafted debris event and end of Heinrich Stadial 1, and the onset of the Younger Dryas, suggesting extrinsically forced southwestern Iberian ecosystem changes by abrupt North Atlantic climate events. In contrast, the abrupt decline in thermophilous elements at ~7.8 cal ka bp indicates an intrinsically mediated abrupt vegetation response to the gradually declining boreal insolation, potentially resulting from the crossing of a seasonality of precipitation threshold