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Prompt detection of cardiovascular abnormalities in children with anorexia nervosa and physical instability requiring hospitalization is essential to identify patients at higher cardiovascular risk. We studied all anorexia nervosa children requiring admission at Paediatric Institute in the period 2015-2019. Anorexia nervosa cardiopathy at admission was defined by the presence of at least two of the following clinical findings: pericardial effusion, mitral regurgitation, bradycardia, mitral billowing, aortic regurgitation, altered LV morphology and ECG abnormalities. Echocardiographic data were compared with those registered at 3-8-month follow-up and with data from a healthy population. Thirty-eight anorexia nervosa children were examined. Prevalence of anorexia nervosa cardiopathy at admission was 63% (24 patients). Pericardial effusion, bradycardia and mitral regurgitation were present together in 26% of patients. Most cardiovascular changes recovered at follow-up. Anorexia nervosa cardiopathy was associated with significantly lower left ventricle end-diastolic diameters and mass, and higher E wave, E/A and E/e' ratios and left ventricle sphericity index values vs healthy population and vs anorexia nervosa children without cardiopathy (p<0.05). Left ventricle global longitudinal strain was significantly reduced only in anorexia nervosa cardiopathy patients but recovered, whereas end-diastolic diameters, E/A ratio and sphericity index values remained impaired.Conclusion: Among anorexia nervosa children requiring hospitalization, those presenting several cardiac findings together express an acute anorexia nervosa cardiopathy which is characterized by worse LV filling, geometry and subclinical myocardial deformation impairment. Despite treatment, in those patients, some alterations persist at mid-term follow-up. What is Known: ⢠Cardiac and electrocardiographic changes are present in anorexia nervosa children at diagnosis or during stable disease, and most recover after body-weight treatment. ⢠It is unknown if anorexia nervosa children with more severe cardiac impairment during hospitalization present higher cardiovascular-risk profile despite treatment. What is New: ⢠In anorexia nervosa children needing hospitalization for physical reasons, prevalence of acute anorexia nervosa cardiopathy at admission is high, around 60%. ⢠By advanced echocardiography, children with anorexia nervosa cardiopathy at admission have a worse cardiac filling, impaired cardiac geometry and systolic deformation that only partially recover at mid-term follow-up.
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Anorexia Nervosa , Derrame Pericárdico , Anorexia Nervosa/complicações , Anorexia Nervosa/epidemiologia , Criança , Ecocardiografia , Seguimentos , Humanos , PrevalênciaRESUMO
Many neuropsychiatric phenotypes have been reported in association with rearrangements in the 15q11-q13 region. Clinical presentations can include hypotonia, developmental delay, severe/moderate intellectual disabilities, poor expressive language, difficult to treat epilepsy, and autism spectrum disorders. Here we report an additional case of a girl with inversion duplication on chromosome 15 (Inv-Dup 15) showing a peculiar and milder clinical phenotype, including atypical high-functioning autism disorder, late onset and drug-responsive epilepsy, and a relatively good language development . This report suggests that a diagnosis of Inv-Dup (15) can be suspected during more benign atypical condition with a better outcome than usually reported.
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Transtorno do Espectro Autista/fisiopatologia , Epilepsia/fisiopatologia , Deficiência Intelectual/fisiopatologia , Adulto , Transtorno do Espectro Autista/etiologia , Aberrações Cromossômicas , Cromossomos Humanos Par 15 , Epilepsia/etiologia , Feminino , Humanos , Deficiência Intelectual/complicações , Deficiência Intelectual/etiologiaRESUMO
PURPOSE: Available guidelines on therapeutic drug monitoring of second-generation antipsychotics were designed for adults; therefore, they cannot be transferred as such in pediatric patients, who may have different drug absorption, distribution, metabolism, and elimination. Moreover, available tools that guide dosing in neuropsychiatric pediatric patients are scant, leading to the possibility of reduced efficacy and/or increased risks of toxicity. Here we describe the results of observational therapeutic drug monitoring conducted in three pediatric neuropsychiatry units across Italy in 2012-2014, with the following aims: (1) to describe the distribution of plasma concentrations of second-generation antipsychotics in our pediatric patients and (2) to identify clinical covariates associated with plasma drug levels. METHODS: Five hundred fifty-six plasma trough concentrations of the second-generation antipsychotics risperidone (plus 9-hydroxy-risperidone), aripiprazole, olanzapine, and quetiapine were measured from 172 pediatric outpatients overall. The distribution of drug concentrations was described and correlated with drug doses and clinical variables. RESULTS: Risperidone plasma levels were lower than in adults (median 13.6 ng/ml), with a high inter-patient (78.9%) but lower intra-patient (34.2%) variability. In multiple regression analyses, risperidone plasma levels depended only on drug dose (p < 0.001). Aripiprazole plasma levels were similar to those described in adults (median 165.8 ng/ml) and were widely distributed, with an inter-patient variability of 81.1%, while the intra-patient variability was much lower (29.3%). Multiple regression analyses indicated that aripiprazole plasma levels were influenced by the daily doses (p < 0.001) and by the number of concomitant drugs (p < 0.01). CONCLUSION: Our study described the distribution of plasma levels of SGAs in a real-life setting involving pediatric patients, significantly increasing the amount of available data for this fragile population. If confirmed in larger dataset, these data may contribute to the definition of optimal therapeutic window for risperidone and aripiprazole plasma levels in pediatric patients.
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Antipsicóticos/sangue , Adolescente , Antipsicóticos/farmacocinética , Antipsicóticos/uso terapêutico , Aripiprazol/sangue , Aripiprazol/farmacocinética , Aripiprazol/uso terapêutico , Benzodiazepinas/sangue , Benzodiazepinas/farmacocinética , Benzodiazepinas/uso terapêutico , Criança , Monitoramento de Medicamentos , Feminino , Humanos , Masculino , Olanzapina , Fumarato de Quetiapina/sangue , Fumarato de Quetiapina/farmacocinética , Fumarato de Quetiapina/uso terapêutico , Risperidona/sangue , Risperidona/farmacocinética , Risperidona/uso terapêuticoRESUMO
Langer-Giedion syndrome (LGS) is caused by a deletion of chromosome 8q23.3-q24.11. The LGS clinical spectrum includes intellectual disability (ID), short stature, microcephaly, facial dysmorphisms, exostoses. We describe a 4-year-old girl with ID, short stature, microcephaly, distinctive facial phenotype, skeletal signs (exostoses on the left fibula, coccyx agenesis, stubby and dysmorphic sphenoid bone, osteoporosis), central nervous system malformations (hypoplastic and dysmorphic corpus callosum and septum pellucidum), pituitary gland hypoplasia and hyperreninemia. Array-CGH revealed complex chromosomal rearrangements. A diagnosis of LGS was confirmed by the detection of a 8q23.3-q24.1 deletion. Associated chromosomal abnormalities were a 21q22.1 deletion and a balanced reciprocal translocation t(2;11)(p24;p15) de novo, confirmed by FISH analysis. We document the patient's atypical findings, never described in LGS patients, in order to update the genotype-phenotype correlation. We speculate that the disruption of regulatory elements mapping upstream CYP11B2 involved in the deleted region could cause hyperreninemia.
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Síndrome de Langer-Giedion/diagnóstico , Síndrome de Langer-Giedion/genética , Fenótipo , Translocação Genética , Pré-Escolar , Bandeamento Cromossômico , Hibridização Genômica Comparativa , Fácies , Feminino , Estudos de Associação Genética , Humanos , Hibridização in Situ FluorescenteRESUMO
OBJECTIVE: To summarize the available evidence on metabolic parameters indicating metabolic adverse effects and risk of metabolic syndrome in children and adolescents treated with antipsychotics, following a pre-specified protocol (PROSPERO ID 252336). METHOD: We searched PubMed, Embase and PsycINFO until May 14, 2021, to identify systematic reviews (SR), meta-analyses (MA) and network meta-analyses (NMA) examining symptoms associated to metabolic syndrome in patients <18 years of age who required treatment with oral antipsychotic drugs. Evidence from quantitative analyses for all outcomes related to anthropometric, glyco-metabolic, and blood pressure parameters (measured from baseline to intervention-end and/or follow-up, in subjects exposed to antipsychotics and placebo) was reported on the basis of their metrics (median difference [medianD], mean difference [MD], standardized mean difference [SMD], odds ratio [OR], risk ratio ([RR]). A qualitative synthesis was also made. A formal quality assessment of the included studies was carried out by using the AMSTAR 2. We also provided a hierarchical stratification of the evidence from meta-analyses based on the class of evidence. RESULTS: A total of 23 articles (13 MA, 4 NMA and 6 SR) were included for review. As compared with placebo, an increase in triglyceride levels was associated with olanzapine (medianD [95% CI]: 37 [12.27, 61.74] mg/dL; MD [95% CI]: 38.57 [21.44, 55.77] mg/dL) and quetiapine (medianD [95% CI]: 21.58 [95% CI]: 4.27, 38.31 mg/dL; MD [95% CI]: 34.87 [20.08, 49.67] mg/dL; SMD [95% CI]: 0.37 [0.06, 0.068]), whereas decreased triglyceride levels were found for lurasidone. Increased total cholesterol level was associated with asenapine (medianD [95% CI]: 9.1 [1.73, 16.44] mg/dL), quetiapine (medianD [95% CI]: 15.60 [7.30, 24.05] mg/dL; olanzapine (MD [95% CI] from 3.67 [1.43, 5.92] mg/dL to 20.47 [13.97, 26.94] mg/dL]; and lurasidone (medianD [95% CI]: 8.94 [1.27, 16.90] mg/dL). Change in glucose levels did not differ among antipsychotics or placebo. Lurasidone, molindone, and ziprasidone were the best tolerated in terms of weight gain. According to the AMSTAR 2 scoring system, 13 (56.5%) reviews were rated as very low quality. According to classes of evidence, most MA were level 4, especially because of their limited total sample size. CONCLUSION: By collating meta-analyses assessing biochemical markers of metabolic syndrome in antipsychotic-treated children, we conclude that olanzapine should not be the antipsychotic of choice in patients at risk for hypertriglyceridemia or hypercholesterolemia. Aripiprazole and lurasidone appear to be better tolerated in terms of metabolic adverse events. Insufficient meta-analytic data are available to provide a precise risk estimate of metabolic syndrome, and, overall, the quality of evidence is low. STUDY REGISTRATION INFORMATION: Association between the use of antipsychotic drugs and alterations of the parameters defining the Metabolic Syndrome (MetS) in children and adolescents: an umbrella review; https://www.crd.york.ac.uk/prospero/; CRD42021252336.
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Antipsicóticos , Síndrome Metabólica , Esquizofrenia , Criança , Humanos , Adolescente , Antipsicóticos/efeitos adversos , Olanzapina/uso terapêutico , Fumarato de Quetiapina , Cloridrato de Lurasidona/uso terapêutico , Síndrome Metabólica/induzido quimicamente , Síndrome Metabólica/epidemiologia , Síndrome Metabólica/tratamento farmacológico , Esquizofrenia/tratamento farmacológico , Triglicerídeos/uso terapêuticoRESUMO
Introduction: Schizophrenia (SCZ) and autism spectrum disorder (ASD) are neurodevelopmental diseases characterized by different psychopathological manifestations and divergent clinical trajectories. Various alterations at glutamatergic synapses have been reported in both disorders, including abnormal NMDA and metabotropic receptor signaling. Methods: We conducted a bicentric study to assess the blood serum levels of NMDA receptors-related glutamatergic amino acids and their precursors, including L-glutamate, L-glutamine, D-aspartate, L-aspartate, L-asparagine, D-serine, L-serine and glycine, in ASD, SCZ patients and their respective control subjects. Specifically, the SCZ patients were subdivided into treatment-resistant and non-treatment-resistant SCZ patients, based on their responsivity to conventional antipsychotics. Results: D-serine and D-aspartate serum reductions were found in SCZ patients compared to controls. Conversely, no significant differences between cases and controls were found in amino acid concentrations in the two ASD cohorts analyzed. Discussion: This result further encourages future research to evaluate the predictive role of selected D-amino acids as peripheral markers for SCZ pathophysiology and diagnosis.
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Since the post-pandemic period, there has been an increase in the incidence of eating disorders (EADs) and a lowering of the age of onset. In addition to the 'classic' forms, there has also been an increase in new forms of EADs. This article proposes a brief review of the literature concerning mainly two of these new disorders: atypical anorexia and avoidant/restrictive food intake disorder. In addition, a brief overview is proposed of the most frequently raised questions that clinicians may face when dealing with EADs. The answers are provided by doctors from the Federico II University of Naples, who additionally offer the most common red flags on the topic derived from long clinical experience. This article is proposed to be a brief operational guide for all clinicians working in the pediatric area in order to provide diagnostic clues and useful elements to refer patients to specialists for a correct and multidisciplinary treatment.
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Anorexia Nervosa , Transtorno Alimentar Restritivo Evitativo , Transtornos da Alimentação e da Ingestão de Alimentos , Humanos , Criança , Anorexia Nervosa/diagnóstico , Estudos Retrospectivos , Transtornos da Alimentação e da Ingestão de Alimentos/diagnóstico , Transtornos da Alimentação e da Ingestão de Alimentos/epidemiologia , Ingestão de AlimentosRESUMO
The use of new technologies, such as virtual reality (VR), represents a promising strategy in the rehabilitation of subjects with attention-deficit/hyperactivity disorder (ADHD). We present the results obtained by administering the IAmHero tool through VR to a cohort of subjects with ADHD between 5 and 12 years of age. The trial time was approximately 6 months. In order to assess the beneficial effects of the treatment, standardised tests assessing both ADHD symptoms and executive functions (e.g., Conners-3 scales) were administered both before and at the end of the sessions. Improvements were observed at the end of treatment in both ADHD symptoms (especially in the hyperactivity/impulsivity domain) and executive functions. One of the strengths of the VR approach is related above all to the acceptability of this tool and its flexibility. Unfortunately, to date, there are still few studies on this topic; therefore, future studies are essential to expand our knowledge on the utility and benefits of these technologies in the rehabilitation field.
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Transtorno do Deficit de Atenção com Hiperatividade , Realidade Virtual , Humanos , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Função ExecutivaRESUMO
Children and adolescents with neurodevelopmental disorders generally show adaptive, cognitive and motor skills impairments associated with behavioral problems, i.e., alterations in attention, anxiety and stress regulation, emotional and social relationships, which strongly limit their quality of life. This narrative review aims at providing a critical overview of the current knowledge in the field of serious games (SGs), known as digital instructional interactive videogames, applied to neurodevelopmental disorders. Indeed, a growing number of studies is drawing attention to SGs as innovative and promising interventions in managing neurobehavioral and cognitive disturbs in children with neurodevelopmental disorders. Accordingly, we provide a literature overview of the current evidence regarding the actions and the effects of SGs. In addition, we describe neurobehavioral alterations occurring in some specific neurodevelopmental disorders for which a possible therapeutic use of SGs has been suggested. Finally, we discuss findings obtained in clinical trials using SGs as digital therapeutics in neurodevelopment disorders and suggest new directions and hypotheses for future studies to bridge the gaps between clinical research and clinical practice.
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Transtorno do Deficit de Atenção com Hiperatividade , Transtorno do Espectro Autista , Transtornos do Neurodesenvolvimento , Criança , Adolescente , Humanos , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Qualidade de Vida , Transtornos do Neurodesenvolvimento/terapia , Relações Interpessoais , AnsiedadeRESUMO
Whether chemotherapy (ChT) and radiotherapy (RT) determine neurocognitive impairment in acute lymphoblastic leukemia long-term survivors (ALL LTSs) through similar mechanisms affecting the same brain regions is still unknown. We compared neurocognitive alterations, regional brain tissue volumes (by voxel-based morphometry), and functional connectivity of the main default-mode network hubs (by seed-based analysis of resting state functional MRI data), in 13 ALL LTSs treated with RT and ChT (Group A) and 13 treated with ChT only (Group B). Group A performed significantly worse than Group B at the digit span and digit symbol tests (p = 0.023 and 0.013, respectively). Increased connectivity between the medial prefrontal cortex (the main anterior hub of the default-mode network) and the rolandic operculi was present in Group A compared to Group B, along with the absence of significant differences in regional brain tissue volumes. In these regions, the functional connectivity correlated inversely with the speed of processing scores, independent of treatment group. These results suggest that similar mechanisms may be involved in the neurocognitive deficits in ALL LTS patients, regardless of the treatment group. Further studies are needed to clarify whether these changes represent a direct expression of the mechanisms underlying the cognitive deficits or ineffective compensatory phenomena.
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BACKGROUND: Melnick-Needles syndrome and periventricular nodular heterotopia are two usually mutually exclusive phenotypes of F-actin-binding cytoskeletal phosphoprotein Filamin-A mutations. Melnick-Needles syndrome is a rare X-linked condition that is lethal in males and shows great phenotypic variability in affected females. It is caused by mutations in Filamin-A gene, which encodes the protein Filamin A. Defects of the human Filamin-A gene also cause X-linked periventricular nodular heterotopia, a malformation of neuronal migration characterized by nodules of neurons in inappropriate location adjacent to the walls of the lateral ventricles. CASE PRESENTATION: We report on two Caucasian adolescent females, sisters, diagnosed with Melnick-Needles syndrome and bilateral periventricular nodular heterotopia, who developed bipolar disorder and somatic symptoms disorder at a young age. We also present a review of the literature about mental disorders associated with periventricular nodular heterotopia. Our report shows that patients presenting with atypical and heterogeneous psychiatric disease may have an underrecognized anatomical brain abnormality on genetic basis. CONCLUSIONS: We found records of psychiatric disorders associated with periventricular nodular heterotopia; nevertheless, this is the first report of bipolar disorder occurring in individuals with periventricular nodular heterotopia, and the first report of any psychiatric disorder in individuals affected by Melnick-Needles syndrome. In conclusion, this case report may contribute to characterizing the phenotype of this very rare syndrome.
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Transtorno Bipolar , Encefalopatias , Osteocondrodisplasias , Heterotopia Nodular Periventricular , Adolescente , Transtorno Bipolar/genética , Encéfalo/diagnóstico por imagem , Feminino , Humanos , Masculino , Heterotopia Nodular Periventricular/genéticaRESUMO
BACKGROUND: White-Sutton (WHSUS) is a recently recognized syndrome caused by mutations of the POGZ gene. Approximately 70 patients have been reported to date. Intellectual disability, hypotonia, behavioral abnormalities, autism, and typical facial dysmorphisms are recognized as WHSUS features; however, still few patients receive a comprehensive psychometric, behavioral and neurological examination. In this report, we describe the pediatric, dysmorphological, neurological, psychometric and behavioral phenotype in a new WHSUS patient due to a novel heterozygous POGZ mutation, highlighting the distinctive epileptic phenotype and the cognitive pattern. CASE PRESENTATION: The patient, an 8 years-old girl, presented history of hypotonia, motor and speech delay, and distinctive facial features. The diagnosis of WHSUS followed the identification of the de novo variant p.Asp828GlyfsTer36 (c.2482dupG) in the POGZ gene. The patient showed a distinctive neurological phenotype with the occurrence of both paroxysmal not-epileptic events in the first 6 months of age and EEG abnormalities without evidence of clinical seizures after the first year of age. Psychological and behavioral testing highlighted moderate intellectual and communication deficit, mild autism spectrum and visual-motor integration deficit. CONCLUSIONS: This is the first described case of WHSUS with a co-existence of paroxysmal not-epileptic events and abnormal EEG without seizures in the same patient. Together with the available literature data, this observation suggests that paroxysmal not-epileptic events could be more frequent than expected and that this feature belongs to the WHSUS phenotypic spectrum. Autism is a known comorbidity of WHSUS but is still poorly investigated. Specific clinical testing could help detect also mild autistic phenotypes and better define autism prevalence in POGZ-related syndrome. Special attention should be given to symptoms such as stereotypies, social withdrawal, and hyperactivity that, when present, should be considered as possible signs of autism symptoms. The dissection of the neurological and behavioral phenotype is crucial for individualized therapies tailored to patient's needs.
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Transtorno Autístico/genética , Deficiências do Desenvolvimento/genética , Deficiência Intelectual/genética , Criança , Eletroencefalografia , Feminino , Humanos , Mutação , Fenótipo , SíndromeRESUMO
In youths, callous-unemotional (CU) traits and conduct problems (CP) are independently associated with bullying perpetration and these effects are also observed when controlling for sex. Moreover, research indicates that the co-existence of high levels of both CU and CP further increase the risk. Although several studies have examined the relationship between CU traits and traditional bullying, few have also included a measure of cyberbullying and very few of them have focused the early adolescence. The aim of this study was to replicate and extend these findings in a large sample of Italian early adolescents considering both traditional and cyberbullying behaviors. Data were extracted from the Bullying and Youth Mental Health Naples study (BYMHNS) which included 2959 students of 10-15 years of age. CP, CU traits, traditional bullying behaviors, and cyberbullying behaviors were assessed by multi-item self-report scales. As expected, we replicated the significant and specific association between CU traits and traditional bullying, extending the findings to cyberbullying. In addition, in the latter case the effect was moderated by CP. The theoretical and clinical implications of these results were discussed.
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Down syndrome (DS) is a major genetic cause of intellectual disability. DS pathogenesis has not been fully elucidated, and no specific pharmacological therapy is available. DYRK1A overexpression, oxidative stress and mitochondrial dysfunction were described in trisomy 21. Epigallocatechin-3-gallate (EGCG) is a multimodal nutraceutical with antioxidant properties. EGCG inhibits DYRK1A overexpression and corrects DS mitochondrial dysfunction in vitro. The present study explores safety profiles in DS children aged 1-8 years treated with EGCG (10 mg/kg/die, suspended in omega-3, per os, in fasting conditions, for 6 months) and EGCG efficacy in restoring mitochondrial complex I and F0F1-ATP synthase (complex V) deficiency, assessed on PBMCs. The Griffiths Mental Developmental Scales-Extended Revised (GMDS-ER) was used for developmental profiling. Results show that decaffeinated EGCG (>90%) plus omega-3 is safe in DS children and effective in reverting the deficit of mitochondrial complex I and V activities. Decline of plasma folates was observed in 21% of EGCG-treated patients and should be carefully monitored. GMDS-ER scores did not show differences between the treated group compared to the DS control group. In conclusion, EGCG plus omega-3 can be safely administered under medical supervision in DS children aged 1-8 years to normalize mitochondria respiratory chain complex activities, while results on the improvement of developmental performance are still inconclusive.
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Phantom Phone Signal (PPS) refers to the false perception of a mobile phone ringing, vibrating and blinking, when in fact it did not. A recent literature about PPS is growing, parallel to an increasing interest about its possible psychopathological implications. The present review aims to synthesize the current knowledge about the phenomenon, and to present a conceptual framework that integrates PPS as a putative index of psychopathology. Furthermore, we propose possible directions for further research. The phenomenon seems highly prevalent, irrespective of age and gender, although estimates are still inconsistent. We have analysed possible factors associated to PPS, disentangling them in person-related (i.e. characteristics of individuals who experience PPS) and phone use-related factors (i.e., time spent using the phone, time of the mobile in vibrating mode, the carrying location of the device, average number of call/message in a day, etc). Literature regarding the association between PPS and mental illness is limited, as most of the samples are not clinical and too sectorial. Preliminary data suggest that anxiety/depression and stress-related problems seem to be the psychopathological background favouring the experience of PPS. Despite PPS is a common phenomenon, it usually do not seem to significantly impact the people's quality of life. However, they deserve attention, given the huge diffusion of phone mobiles, particularly in children and adolescents, as it may be an index for emotional or stress-related difficulties. Future studies are needed to better clarify its frequency and its possible impact on everyday life. Studies in clinical samples may further clarify its psychopathological implications.
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Telefone Celular , Transtornos Mentais , Psiquiatria , Adolescente , Criança , Depressão , Humanos , Transtornos Mentais/epidemiologia , Qualidade de VidaRESUMO
Patients with autism spectrum disorder (ASD) display distinctive neurophysiological characteristics associated with significant cognitive, emotional, and behavioral symptoms. Transcranial direct current stimulation (tDCS) applied to the frontal or temporoparietal lobes has demonstrated potential to reduce the severity of ASD-related symptoms. Recently, the cerebellum has been identified as a brain area involved in ASD pathophysiology. In this open-label pilot study, seven ASD patients aged between 9 and 13 years underwent 20 daily sessions of 20 min cathodal stimulation of the right cerebellar lobe. At the end of the treatment, the Aberrant Behavior Checklist (ABC) scores showed a 25% mean reduction in global severity of symptoms, with a more pronounced reduction in the "social withdrawal and lethargy" (-35%), "hyperactivity and noncompliance" (-26%), and "irritability, agitation, and crying" (-25%) subscales. Minor and no improvement were observed in the "stereotypic behavior" (-18%) and "inappropriate speech" (-0%) subscales, respectively. Improvements were not detected in the two patients who were taking psychotropic drugs during the study. Clinical response showed a symptom-specific time course. Quality of sleep and mood improved earlier than hyperactivity and social withdrawal. The treatment was generally accepted by patients and well tolerated. No serious adverse events were reported. Stimulation also appeared to markedly reduce the severity of tics in a patient with comorbid tic disorder and led to the disappearance of a frontal epileptogenic focus in another patient with a history of seizures. In conclusion, cerebellar tDCS is safe, feasible, and potentially effective in the treatment of ASD symptoms among children. Strategies to improve recruitment and retention are discussed.
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Phenylketonuria is an inborn error of phenylalanine (Phe) metabolism diagnosed by newborn screening and treated early with diet. Although diet prevents intellectual disability, patients often show impairment of executive functions, working memory, sustained attention, and cognitive flexibility. Large neutral amino acids (LNAAs) have been proposed as a dietary supplement for PKU adults. Few studies show that LNAAs may help in improving metabolic control as well as cognitive functions. In this study, 10 adult PKU patients with poor metabolic control were treated for 12 months with LNAAs (MovisCom, 0.8-1 g/kg/day) and underwent Phe and Tyrosine (Tyr) monitoring monthly. Neuropsychological assessment was performed at T0, T+3, and T+12 months by using the American Psychological General Well-Being Index, the Wisconsin Card Sorting Test, the Test of Attentional Performance, and the 9-Hole Peg Test. No change in plasma Phe levels was observed during LNAAs supplementation, while Tyr levels significantly improved during LNAAs supplementation (p = 0.03). Psychometric tests showed an improvement of distress and well-being rates, of executive functions, attention, and vigilance, whereas no difference was noted regarding hand dexterity. This study adds evidence of the advantage of LNAAs supplementation in improving cognitive functions and well-being in patients with PKU with poor metabolic control.
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Aminoácidos Neutros/administração & dosagem , Aminoácidos Neutros/farmacologia , Atenção , Encéfalo/fisiopatologia , Cognição , Suplementos Nutricionais , Função Executiva , Memória de Curto Prazo , Testes Neuropsicológicos , Fenilcetonúrias/dietoterapia , Fenilcetonúrias/psicologia , Adolescente , Adulto , Nível de Alerta , Feminino , Humanos , Masculino , Fenilalanina/sangue , Fenilcetonúrias/metabolismo , Resultado do Tratamento , Adulto JovemRESUMO
BACKGROUND: Catatonia is increasingly recognized as a comorbid psychiatric condition in autism spectrum disorder (ASD), but the overlap of behavioral characteristics between these disorders raises many diagnostic challenges. Moreover, recognizing symptoms in ASD patients with medium-low functioning might be difficult. Literature on this argument is poor, especially for children. Case presentation. We report the case of an ASD patient with low cognitive functioning, who presented a complex symptomatology, characterized by progressive regression with loss of autonomy and involuntary movements that assume "dystonic" features. Organic pathology was excluded, and catatonia, with peculiar dystonic characteristics, was diagnosed. An intervention based on elimination of stressful factors, resumption of routines, and support for parents led to the resolution of catatonic symptoms. CONCLUSIONS: The case describes the presence among the catatonic symptoms in ASD of involuntary "dystonic" movements; so far, little reported in literature; it highlights that the catatonia may present with a broad spectrum of motor abnormalities. There is still little evidence for treatment of catatonia and ASD. Our case highlights how it is equally important to take into account triggering factors when implementing a nonpharmacological treatment. So, it represents an example of diagnostic and therapeutic challenges of catatonia in ASD, especially in low functioning forms.
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BACKGROUND AND AIMS: Autism Spectrum Disorder (ASD) is characterized by the impairment of communication and social interaction and by repetitive, restricted and stereotyped interests. ASD is often accompanied by comorbidities; eating disorders are frequent and imply important nutritional deficits (i.e. deficiencies of vitamins, minerals and fatty acids). Vitamin D has a critical role in neurodevelopment and serum levels in ASD are reported inadequate. A useful reference for setting up a correct diet in childhood is the food pyramid, which is inspired by the Mediterranean Diet (MD). The MD guarantees an intake of nutrients, considered optimal to maintain an adequate nutritional status. The aim of this study is to explore serum levels of Vitamin D and food habits (through MD adherence) in a sample of children with ASD and evaluate a possible correlation between these factors. METHODS: study participants include 91 children 47 presenting ASD and 44 healthy typically-developing (TD) subjects, as control group. We evaluated serum level of Vitamin D in both group; anthropometric parameters (weight, height, body mass index-BMI-and growth percentile) and MD adherence have been explored, in order to investigate the correlation among those data and level of Vitamin D in children with ASD. Lastly, the association between Vitamin D levels and severity of ASD symptoms has been analysed. RESULTS AND CONCLUSION: 74% of ASD group presented blood levels of Vitamin D under 30 ng/ml (normal range 30-100 ng/ml). The analysis performed showed that the two groups were significant different regards Vitamin D levels (t = 2.24, p < 0.05), according to literature. 31.9% of children with ASD presented a condition of overweight and 12.6% a condition of obesity. Adherence to the MD was low in 25.5% of cases. No significant statistical correlation has been found between Vitamin D serum levels, anthropometric parameters and the adherence to MD in the ASD group.