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OBJECTIVE: The pathophysiology of functional gastrointestinal disorders (FGIDs) is associated with dysfunction at various levels of the gut-brain axis. Hypervigilance can result in an increased tendency to report pain. In the present study, we aimed to explore whether hypervigilance can influence attentional processing in postural control in children with FGIDs. PATIENTS AND METHODS: Fifty-nine participants classified into healthy subjects, those with FGIDs, and those with organic diseases (Org) based on Rome IV criteria were enrolled. Postural control under 6 sensory conditions was evaluated using a stabilometric platform. The mean velocity of the center of pressure (CoP) displacement in the anteroposterior direction and the mediolateral direction, the length of the CoP trajectory, and the sway area were also measured. RESULTS: With visual and somatosensorial normal inputs, participants with FGIDs showed a higher number of anteroposterior (FGIDs: 4[interquartile range [IQR] 3-7], control [Cntl] 3 [IQR 3-4], Pâ <â0.05) latero-lateral oscillations (FGIDs: 3 [IQR 3-6], Cntl 3 [IQR 2-3], Pâ <â0.05) and a higher perimeter value (FGIDs: 148 [IQR 121-240], Cntl 124 [IQR 111-140], Pâ =â0.056) compared to healthy subjects. With normal visual but altered somatosensorial input, subjects with FGIDs showed higher values of all parameters (anteroposterior: FGIDs 6[IQR 5-8], Cntl and Org 5 [IQR 4-6], Pâ <â0.05; latero-lateral FGIDs 6 [IQR 4-8], Cntl 4 [IQR 4-5], Org 4[IQR 3-5], Pâ <â0.05; perimeter FGIDs 253 [IQR 167-305], Cntl 185 [IQR 161-217], Org 176 [IQR 142-219], Pâ <â0.05; area FGIDs 98 [IQR 81-233], Cntl 86 [IQR 59-114], Org 56 [IQR 41-97], Pâ<â0.05). CONCLUSIONS: The higher number of oscillations in subjects with FGIDs who had normal visual input could be expression of alteration in attention and therefore hypervigilance as hypothesized in the context of gut-brain axis alterations.
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Gastroenteropatias , Encéfalo , Criança , HumanosRESUMO
In this study, we used deletions at 22q13, which represent a substantial source of human pathology (Phelan/McDermid syndrome), as a model for investigating the molecular mechanisms of terminal deletions that are currently poorly understood. We characterized at the molecular level the genomic rearrangement in 44 unrelated patients with 22q13 monosomy resulting from simple terminal deletions (72%), ring chromosomes (14%), and unbalanced translocations (7%). We also discovered interstitial deletions between 17-74 kb in 9% of the patients. Haploinsufficiency of the SHANK3 gene, confirmed in all rearrangements, is very likely the cause of the major neurological features associated with PMS. SHANK3 mutations can also result in language and/or social interaction disabilities. We determined the breakpoint junctions in 29 cases, providing a realistic snapshot of the variety of mechanisms driving non-recurrent deletion and repair at chromosome ends. De novo telomere synthesis and telomere capture are used to repair terminal deletions; non-homologous end-joining or microhomology-mediated break-induced replication is probably involved in ring 22 formation and translocations; non-homologous end-joining and fork stalling and template switching prevail in cases with interstitial 22q13.3. For the first time, we also demonstrated that distinct stabilizing events of the same terminal deletion can occur in different early embryonic cells, proving that terminal deletions can be repaired by multistep healing events and supporting the recent hypothesis that rare pathogenic germline rearrangements may have mitotic origin. Finally, the progressive clinical deterioration observed throughout the longitudinal medical history of three subjects over forty years supports the hypothesis of a role for SHANK3 haploinsufficiency in neurological deterioration, in addition to its involvement in the neurobehavioral phenotype of PMS.
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Deleção Cromossômica , Transtornos Cromossômicos/genética , Cromossomos Humanos Par 22/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Sequência de Bases , Criança , Pré-Escolar , Hibridização Genômica Comparativa , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Pais , Cromossomos em Anel , Deleção de Sequência/genética , Translocação Genética , Adulto JovemRESUMO
Introduction: Either Developmental Visuospatial Disorder (DVSD) and Developmental Coordination Disorder (DCD) present with difficulties in visuospatial processing, even though entailing different degrees of impairment. Among the visuospatial domain, spatial perspective taking is essential to interact with the environment and is significantly involved in many daily activities (e.g., environment navigation and spatial orienting). Notwithstanding, no previous studies have investigated this spatial domain in children with DVSD and limited evidence is available regarding DCD. Consistent with a transdiagnostic approach, the first goal of the present study was to compare spatial perspective taking abilities of these groups, also including a control group of not diagnosed peers (ND). Secondly, the role of different fine-motor and visuo-spatial predictors on the spatial perspective taking performance was considered. Method: A total of 85 participants (DVSD = 26; DCD = 26; ND = 33), aged between 8 and 16 years old, were included in the study. Tasks assessing spatial perspective taking, fine-motor, visual imagery, and mental rotation skills, as well as visuo-spatial working memory were administered. Results and Discussion: Overall, our results confirmed weaknesses in spatial perspective taking in both clinical groups, with the DVSD obtaining the lowest scores. Similarities and differences in the predictors accounting for the performance in the spatial perspective taking task emerged, suggesting the possible employment of different fine-motor or visuospatial strategies by group. Findings are discussed considering the potential impact they may have both in research and clinical practice.
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Introduction: To evaluate lower urinary tract symptoms (LUTS) and bowel disorders in a population of young subjects with autism spectrum disorder (ADS) by a national survey and to assess the relationship between the occurrence, frequency, and type of LUTS and the severity of behavioral and neuropsychiatric characteristics. Materials and methods: A survey on LUTS and bowel disorders in the ASD population was sent by mail and social media through the main Italian Associations of ASD between February and September 2022. The correlation between LUTS and ASD severity was also assessed. Results: The survey was completed by 502 subjects with a mean age of 16.6 years ± 10 years: male participants were 413 (mean age: 16.5 years ± 9.8 years), while female participants 89 (mean age: 17.2 years ± 10.9 years). ADS severity was found low in 29.9%, moderate in 27.1%, and severe in 43%. LUTS were reported by 77.1%, storage symptoms in 51.4%, and voiding symptoms in 60.6%. Urinary incontinence was reported by 12.5%. Enuresis was reported by 14.3% (72/502) of the respondents: primary enuresis in 70.8% (51/72), secondary in the remaining. Pads were used by 40 subjects with a median of 2.9 pads/day (range, 0-8). A toilet training program was performed by 61 of the respondents, with satisfactory results in 40/61 (65.6%). A significant correlation was found between greater ASD severity and higher LUTS rates. The mean VAS score on the impact of LUTS on family relationships was 2 ± 2.9. Regular bowel function was reported by 57.4% (288/502) of the respondents, while increased daily defecations were present in 11.2% (56/502), constipation in 31.5% (158/502), and fecal incontinence in 7.9% (40/502). Conclusion: This survey demonstrated that LUTS are very common in the young ASD population and that the prevalence of urinary symptoms is related to higher severity of the ASD condition. Bowel disorders are often associated with urinary symptoms and dysfunctions. Urologists should be aware of the frequent occurrence of urological disorders and symptoms in individuals with ASD and should be involved in their clinical management in a multidisciplinary team that cares for these people.
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(1) Background: Sleep-disordered breathing represents a growing public health concern, especially among children and adolescents. The main risk factors for pediatric sleep-disordered breathing in school-age children are tonsillar and adenoid hypertrophy. Adenoidectomy, often in combination with tonsillectomy, is the primary treatment modality for pediatric sleep-disordered breathing. This study aims to comprehensively investigate various risk and protective factors in children with sleep-disordered breathing undergoing adenotonsillar or adenoidal surgeries. We also aim to explore the differences in neuropsychological profiles. (2) Methods: This is an observational, retrospective cohort study. We collected information on adenoidectomy or adenotonsillectomy in children referred to our center. We reviewed the clinical history and preoperative visits and collected data through a telephone questionnaire. The Pediatric Sleep Questionnaire (PSQ) and the Pediatric Quality of Life Inventory (PedsQL) screen sleep-disordered breathing and quality of life, respectively. The data were statistically analyzed using SPSS version 22.0 for Windows (SPSS Inc., Chicago, IL, USA). (3) Results: The study involved 138 patients, but only 100 children participated. A higher percentage of patients with sleep-disordered breathing were observed to have mothers who smoked during pregnancy. A smaller proportion of patients with sleep-disordered breathing habitually used a pacifier. A rise in physical score was associated with a reduced PSQ at follow-up (p = 0.051). An increase in the overall academic score was related to a decrease in the PSQ at follow-up (p < 0.001). A more significant proportion of patients undergoing adenotonsillectomy were observed to have a history of prematurity and cesarean birth. (4) This comprehensive study delves into the intricate interplay of risk and protective factors impacting children with sleep-disordered breathing undergoing adenotonsillectomy and adenoidectomy.
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Sleep-disordered breathing is a significant problem affecting the pediatric population. These conditions can affect sleep quality and children's overall health and well-being. Difficulties in social interaction, communication, and repetitive behavioral patterns characterize autism spectrum disorder. Sleep disturbances are common in children with ASD. This literature review aims to gather and analyze available studies on the relationship between SDB and children with autism spectrum disorder. We comprehensively searched the literature using major search engines (PubMed, Scopus, and Web of Science). After removing duplicates, we extracted a total of 96 records. We selected 19 studies for inclusion after a thorough title and abstract screening process. Seven articles were ultimately incorporated into this analysis. The research findings presented herein emphasize the substantial influence of sleep-disordered breathing on pediatric individuals diagnosed with autism spectrum disorder (ASD). These findings reveal a high incidence of SDB in children with ASD, emphasizing the importance of early diagnosis and specialized treatment. Obesity in this population further complicates matters, requiring focused weight management strategies. Surgical interventions, such as adenotonsillectomy, have shown promise in improving behavioral issues in children with ASD affected by OSA, regardless of their obesity status. However, more comprehensive studies are necessary to investigate the benefits of A&T treatment, specifically in children with ASD and OSA. The complex relationship between ASD, SDB, and other factors, such as joint hypermobility and muscle hypotonia, suggests a need for multidisciplinary treatment approaches. Physiotherapy can play a critical role in addressing these intricate health issues. Early sleep assessments and tailored weight management strategies are essential for timely diagnosis and intervention in children with ASD. Policy initiatives should support these efforts to enhance the overall well-being of this population. Further research is crucial to understand the complex causes of sleep disturbances in children with ASD and to develop effective interventions considering the multifaceted nature of these conditions.
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In autism spectrum disorders (ASDs) in the pediatric population, skin manifestations are generally attributable to the concomitance of allergic forms or to accidental, self-inflicted or abusive lesions. However, clinical evidence has highlighted the presence of an increasing number of abdominal stretch marks, probably caused by the increase in the number of obesity cases in the pediatric population, in general, and therefore also among children with ASD. Stretch marks are often attributed to obesity, as they have an incidence of more than 50% in obese individuals. In the first part of this article we hypothesized that in addition to obesity there are other factors, such as a structural alteration on the skin in people with ASD, which can contribute/aggravate the phenomenon of stretch marks. Despite the high frequency with which stretch marks are found in children with ASD, this aspect has never been studied, the structure of the skin of children with ASD is not known. Furthermore, it is not known whether this structure is different from that of subjects without ASD. In the second part of the article, we hypothesized the mechanisms of the negative impact of simple abdominal stretch marks on the symptomatic picture of children with ASD. The presence of stretch marks, altered tactile perception, altered sensitivity to clothing fabrics can be a combination that influences development and determines negative consequences in the neurological picture of a child with ASD, as it is already known that the altered sensory perception in children with ASD contributes to the deterioration of social behavior. Furthermore, the presence of stretch marks may play a role in the postural and motor defects of children with ASD.
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BACKGROUND: Obstructive sleep apnea can have a negative impact on children's and adolescents' neurocognitive abilities and hinder their academic and adaptive progress in academic, social, and/or behavioral dimensions. In this retrospective cross-sectional study, we investigated the influence of body weight conditions and allergy status on long-term mental health, cognitive development, and quality of life in children and adolescents who snored. METHODS: The study sample included 47 subjects (age range 4.1 to 15.3 years) who exhibited high levels of snoring and underwent home-based polysomnography between 2015 and 2019. Follow-up assessments (3 years on average between baseline and follow-up) entailed phone interviews with the subject's parents/caregivers who completed three validated questionnaires investigating sleep, quality of life, and parental ratings. RESULTS: We found a correlation between age at diagnosis and being retrospectively overweight and high levels of snoring. In addition to a higher risk of developing emotional symptoms (8.2% increase in retrospective overweight status for each unit increase in the emotional score at follow-up) and oppositional behavior (9% increase in retrospective overweight status for each unit of oppositional T points at follow-up), we also noted reduced long-term social symptoms (11% decrease in retrospective overweight status for each unit increase in the social score at follow-up) and cognitive symptoms (10.6% decrease in retrospective overweight status for each unit increase in the cognitive score at follow-up), as well as a 6.1% increase in retrospective allergy status for each unit increase in academic performance at follow-up. CONCLUSIONS: Snoring can have negative impacts on mental health and cognitive development in the long term. Early detection and intervention for neuropsychological disorders is important in children and adolescents who score high on snoring. In the long term, the effects of snoring on neuropsychological disorders may vary based on previous body weight and allergy status.
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Pediatric obstructive sleep apnea can negatively affect children's neurocognitive function and development, hindering academic and adaptive goals. Questionnaires are suitable for assessing neuropsychological symptoms in children with sleep-disordered breathing. The study aimed to evaluate the effectiveness of using the Oxygen Desaturation Index compared to the Obstructive Apnea-Hypopnea Index in predicting long-term consequences of sleep-disordered breathing in children. We conducted a retrospective analysis of respiratory polysomnography recordings from preschool and school-age children (mean age: 5.8 ± 2.8 years) and followed them up after an average of 3.1 ± 0.8 years from the home-based polysomnography. We administered three validated questionnaires to the parents/caregivers of the children by phone. Our results showed that children with an Oxygen Desaturation Index (ODI) greater than one event per hour exhibited symptoms in four domains (physical, school-related, Quality of Life [QoL], and attention deficit hyperactivity disorder [ADHD]) at follow-up, compared to only two symptoms (physical and school-related) found in children with an Obstructive Apnea-Hypopnea Index greater than one event per hour at the time of diagnosis. Our study also found a significant correlation between the minimum SpO2 (%) recorded at diagnosis and several outcomes, including Pediatric Sleep Questionnaire (PSQ) scores, physical, social, and school-related outcomes, and ADHD index at follow-up. These results suggest that the Oxygen Desaturation Index could serve as a valuable predictor of long-term symptoms in children with sleep-disordered breathing, which could inform treatment decisions. Additionally, measuring minimum SpO2 levels may help assess the risk of developing long-term symptoms and monitor treatment outcomes.
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The COVID-19 pandemic has fast-tracked interest in telehealth methods to guarantee the continuity of care of children with Autism Spectrum Disorder (ASD). Store-and-forward telehealth approaches offer the opportunity to facilitate timely screening of ASD, allowing parents to record videos of their child's behaviors, subsequently shared with clinicians that provide an assessment remotely. This study aimed to examine the psychometric properties of a new telehealth screening tool, the teleNIDA, administered in home settings for remote observation of early signs of ASD in toddlers aged 18-30 months. Results showed good psychometric properties of the teleNIDA, as compared to the gold standard in-person assessment, and the predictive validity on the diagnosis of ASD at 36 months was demonstrated. This study supports the teleNIDA as a promising level 2 screening tool for ASD able to speed up diagnostic and intervention processes.
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BACKGROUND: The Collaborative Outcome study on Health and Functioning during Infection Times (COH-FIT; www.coh-fit.com) is an anonymous and global online survey measuring health and functioning during the COVID-19 pandemic. The aim of this study was to test concurrently the validity of COH-FIT items and the internal validity of the co-primary outcome, a composite psychopathology "P-score". METHODS: The COH-FIT survey has been translated into 30 languages (two blind forward-translations, consensus, one independent English back-translation, final harmonization). To measure mental health, 1-4 items ("COH-FIT items") were extracted from validated questionnaires (e.g. Patient Health Questionnaire 9). COH-FIT items measured anxiety, depressive, post-traumatic, obsessive-compulsive, bipolar and psychotic symptoms, as well as stress, sleep and concentration. COH-FIT Items which correlated r ≥ 0.5 with validated companion questionnaires, were initially retained. A P-score factor structure was then identified from these items using exploratory factor analysis (EFA) and confirmatory factor analyses (CFA) on data split into training and validation sets. Consistency of results across languages, gender and age was assessed. RESULTS: From >150,000 adult responses by May 6th, 2022, a subset of 22,456 completed both COH-FIT items and validated questionnaires. Concurrent validity was consistently demonstrated across different languages for COH-FIT items. CFA confirmed EFA results of five first-order factors (anxiety, depression, post-traumatic, psychotic, psychophysiologic symptoms) and revealed a single second-order factor P-score, with high internal reliability (ω = 0.95). Factor structure was consistent across age and sex. CONCLUSIONS: COH-FIT is a valid instrument to globally measure mental health during infection times. The P-score is a valid measure of multidimensional mental health.
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COVID-19 , Pandemias , Humanos , Adulto , Reprodutibilidade dos Testes , Inquéritos e Questionários , Avaliação de Resultados em Cuidados de Saúde , Análise Fatorial , PsicometriaRESUMO
Autistic subjects represent a severe concern to dentistry due to the considerable difficulty in managing their oral health, maintaining routine toothbrushing, and preventing dental and periodontal problems. The social and economic burden of managing dental care in autism spectrum disorder (ASD) children is particularly cumbersome for families and public and private health expenditure, especially when children reach the dentist following a late diagnosis with evident oral health problems. An early diagnosis of ASD helps dentists better address these children's oral health. Unfortunately, insufficient attention is paid to the training and education of general pediatricians, dentists, and dental hygienists, allowing them to get to approach the different clinical aspects of ASD. Usually, children diagnosed with ASD are scheduled for dental appointments like their neurotypical peers, whereas their needs are typically complex and personalized. Scant attention is also devoted to these patients by commercial manufacturers of dental products and devices for oral hygiene and prevention of caries and periodontal diseases, leaving parents without the support and often failing when they address the oral health of autistic children. The difficulties of oral care do not derive simply from the behavior of ASD patients, as is commonly assumed, and therefore cannot be overcome solely by the patience and attention of parents and dentists. Genetics, dietary habits, sensory impairments, and cognition disorders are other causes contributing in various degrees to the impact on the mood and psychological reactions of autistic children towards dentists. How can we prevent teeth caries, periodontal disorders, and other oral health impairments by properly managing ASD children? This manuscript gives an up-to-date overview of these problems and helps to provide good remarks.
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COVID-19 pandemic may affect children's mental health. Children <18 years in-patiently admitted for mental health emergencies between March 2020 and June 2021 were compared to those admitted in the same period of 2018-2019 in terms of sociodemographic and clinical characteristics. There were 49 admissions in the pre-pandemic period and 60 in the pandemic period (IRR: 1.22; 95% CI: 0.84-1.79), with the latter more likely to have a family history of psychiatric disorders, a personal history of physical disturbances, present with suicidal risk, and being diagnosed with an externalizing disorder. This study underscores the increased need for pediatric mental health services.
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BACKGROUND: . High-quality comprehensive data on short-/long-term physical/mental health effects of the COVID-19 pandemic are needed. METHODS: . The Collaborative Outcomes study on Health and Functioning during Infection Times (COH-FIT) is an international, multi-language (n=30) project involving >230 investigators from 49 countries/territories/regions, endorsed by national/international professional associations. COH-FIT is a multi-wave, on-line anonymous, cross-sectional survey [wave 1: 04/2020 until the end of the pandemic, 12 months waves 2/3 starting 6/24 months threreafter] for adults, adolescents (14-17), and children (6-13), utilizing non-probability/snowball and representative sampling. COH-FIT aims to identify non-modifiable/modifiable risk factors/treatment targets to inform prevention/intervention programs to improve social/health outcomes in the general population/vulnerable subgrous during/after COVID-19. In adults, co-primary outcomes are change from pre-COVID-19 to intra-COVID-19 in well-being (WHO-5) and a composite psychopathology P-Score. Key secondary outcomes are a P-extended score, global mental and physical health. Secondary outcomes include health-service utilization/functioning, treatment adherence, functioning, symptoms/behaviors/emotions, substance use, violence, among others. RESULTS: . Starting 04/26/2020, up to 14/07/2021 >151,000 people from 155 countries/territories/regions and six continents have participated. Representative samples of ≥1,000 adults have been collected in 15 countries. Overall, 43.0% had prior physical disorders, 16.3% had prior mental disorders, 26.5% were health care workers, 8.2% were aged ≥65 years, 19.3% were exposed to someone infected with COVID-19, 76.1% had been in quarantine, and 2.1% had been COVID 19-positive. LIMITATIONS: . Cross-sectional survey, preponderance of non-representative participants. CONCLUSIONS: . Results from COH-FIT will comprehensively quantify the impact of COVID-19, seeking to identify high-risk groups in need for acute and long-term intervention, and inform evidence-based health policies/strategies during this/future pandemics.
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COVID-19 , Pandemias , Adolescente , Adulto , Ansiedade , Criança , Estudos Transversais , Depressão , Humanos , Saúde Mental , Avaliação de Resultados em Cuidados de Saúde , SARS-CoV-2RESUMO
BACKGROUND: The COVID-19 pandemic has altered daily routines and family functioning, led to closing schools, and dramatically limited social interactions worldwide. Measuring its impact on mental health of vulnerable children and adolescents is crucial. METHODS: The Collaborative Outcomes study on Health and Functioning during Infection Times (COH-FIT - www.coh-fit.com) is an on-line anonymous survey, available in 30 languages, involving >230 investigators from 49 countries supported by national/international professional associations. COH-FIT has thee waves (until the pandemic is declared over by the WHO, and 6-18 months plus 24-36 months after its end). In addition to adults, COH-FIT also includes adolescents (age 14-17 years), and children (age 6-13 years), recruited via non-probability/snowball and representative sampling and assessed via self-rating and parental rating. Non-modifiable/modifiable risk factors/treatment targets to inform prevention/intervention programs to promote health and prevent mental and physical illness in children and adolescents will be generated by COH-FIT. Co-primary outcomes are changes in well-being (WHO-5) and a composite psychopathology P-Score. Multiple behavioral, family, coping strategy and service utilization factors are also assessed, including functioning and quality of life. RESULTS: Up to June 2021, over 13,000 children and adolescents from 59 countries have participated in the COH-FIT project, with representative samples from eleven countries. LIMITATIONS: Cross-sectional and anonymous design. CONCLUSIONS: Evidence generated by COH-FIT will provide an international estimate of the COVID-19 effect on children's, adolescents' and families', mental and physical health, well-being, functioning and quality of life, informing the formulation of present and future evidence-based interventions and policies to minimize adverse effects of the present and future pandemics on youth.
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COVID-19 , Adolescente , Adulto , Criança , Estudos Transversais , Promoção da Saúde , Humanos , Saúde Mental , Pandemias , Qualidade de Vida , SARS-CoV-2RESUMO
BACKGROUND: The safety and effectiveness of psychotropic drug use in the paediatric population is widely debated, in particular because of the lack of data concerning long term effects.In Italy the prevalence of psychotropic drug prescriptions increased in the early 2000s and decreased afterwards. In such a context, a study with the aim to estimate the incidence and prevalence of psychotropic drug prescription in the paediatric population and to describe diagnostic and therapeutic approaches was performed. METHODS: The study population was composed of 76,000 youths less than 18 years and living in the area covered by the local health unit of Verona, Italy. The data source was the Verona local health unit's administrative prescription database. Prevalence and incidence of antidepressant and/or antipsychotic drug prescriptions in the 2004-2008 period were estimated. Children and adolescents receiving antidepressant and/or antipsychotic drug prescriptions between 1 January 2005 and 31 December 2006 were identified and questionnaires were sent to the prescribers with the aim to collect data concerning diagnostic and therapeutic approaches, and care strategies. RESULTS: The prevalence of psychotropic drug prescriptions did not change in the 2004-2008 period, while incidence slightly increased (from 7.0 in 2005 to 8.3 per 10,000 in 2008). Between 1 January 2005 and 31 December 2006, 111 youths received at least one psychotropic drug prescription, 91 of whom received antidepressants. Only 28 patients attended child and adolescent psychiatry services. Information concerning diagnostic and therapeutic approaches, and care strategies was collected for 52 patients (47%). Anxiety-depressive syndrome and attention disorders were the diseases for which psychotropic drugs were most commonly prescribed. In all, 75% youths also received psychological support and 20% were prescribed drugs for 2 or more years. CONCLUSIONS: Despite the low drug prescription prevalence, the finding that most children were not cared for by child and adolescent psychiatric services is of concern and calls for a systematic, continuous monitoring of psychopharmacological treatments.
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Antidepressivos/administração & dosagem , Antipsicóticos/administração & dosagem , Prescrições de Medicamentos/estatística & dados numéricos , Transtornos Mentais/tratamento farmacológico , Adolescente , Ansiedade/tratamento farmacológico , Transtorno do Deficit de Atenção com Hiperatividade/tratamento farmacológico , Criança , Depressão/tratamento farmacológico , Feminino , Humanos , Incidência , Itália/epidemiologia , Masculino , Serviços de Saúde Mental , PrevalênciaRESUMO
Autism spectrum disorder (ASD) pathophysiology is not completely understood; however, altered inflammatory response and glutamate signaling have been reported, leading to the investigation of molecules targeting the immune-glutamatergic system in ASD treatment. Palmitoylethanolamide (PEA) is a naturally occurring saturated N-acylethanolamine that has proven to be effective in controlling inflammation, depression, epilepsy, and pain, possibly through a neuroprotective role against glutamate toxicity. Here, we systematically reviewed all human and animal studies examining PEA and its biobehavioral correlates in ASD. Studies indicate altered serum/brain levels of PEA and other endocannabinoids (ECBs)/acylethanolamines (AEs) in ASD. Altered PEA signaling response to social exposure and altered expression/activity of enzymes responsible for the synthesis and catalysis of ECBs/AEs, as well as downregulation of the peroxisome proliferator activated receptor-α (PPAR-α) and cannabinoid receptor target GPR55 mRNA brain expression, have been reported. Stress and exposure to exogenous cannabinoids may modulate ECBs/AEs levels and expression of candidate genes for neuropsychiatric disorders, with implications for ASD. Limited research suggests that PEA supplementation reduces overall autism severity by improving language and social and nonsocial behaviors. Potential neurobiological underpinnings include modulation of immune response, neuroinflammation, neurotrophy, apoptosis, neurogenesis, neuroplasticity, neurodegeneration, mitochondrial function, and microbiota activity, possibly through peroxisome proliferator-activated receptor-α (PPAR-α) activation.
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Amidas/farmacologia , Transtorno do Espectro Autista/metabolismo , Encéfalo/metabolismo , Etanolaminas/farmacologia , Fármacos Neuroprotetores/farmacologia , Ácidos Palmíticos/farmacologia , Animais , Apoptose/efeitos dos fármacos , Regulação para Baixo/efeitos dos fármacos , Endocanabinoides/metabolismo , Ácido Glutâmico/metabolismo , Humanos , Fenômenos do Sistema Imunitário/efeitos dos fármacos , Inflamação , Mitocôndrias/efeitos dos fármacos , PPAR alfa/metabolismo , Receptores de Canabinoides/metabolismo , Transdução de Sinais/efeitos dos fármacosRESUMO
Children and adolescents with Tourette syndrome may suffer from comorbid psychological and behavioral difficulties, primarily Attention-Deficit Hyperactivity Disorder-related manifestations including impulsive, aggressive, and disruptive behavior, and Obsessive-Compulsive Disorder-related disturbances. Often, such additional problems represent the major cause of disability, requiring their prioritization above the tic symptomatology. Here, we present six cases of children and adolescents with treatment-resistant Tourette syndrome aged 11-17 years, whose symptoms, especially the non-tic symptoms such as aggressive behavior and obsessive symptoms, failed to respond adequately to at least two different antipsychotics and, where deemed appropriate, to a combination with a medication with a different therapeutic indication or chemical class (e.g., antidepressant or anticonvulsant). Such symptomatic manifestations were significantly reduced by the time of the subsequent control visit planned 30 days later, by using lurasidone as an add-on therapy to risperidone or aripiprazole (all p ≤ 0.009). No significant neuromotor or metabolic side effects were reported in all cases in a follow-up period ranging from 4 months to 6 months, supporting the stability of the observed clinical improvement. While still investigational, the preliminary evidence presented here gives reason to hope that lurasidone could possibly be an effective option in Tourette syndrome, warranting further investigation of its potential benefits in neurodevelopmental conditions.
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The classical approach to autism spectrum disorders (ASD) is often limited to considering their neuro-functional aspects. However, recent scientific literature has shown that ASDs also affect many body systems and apparatuses such as the immune system, the sensory-motor system, and the gut-brain axis. The connective tissue, a common thread linking all these structures, may have a pathogenetic role in the multisystem involvement of ASD. Depending on its different anatomical sites, the connective tissue performs functions of connection and support; furthermore, it acts as a barrier between the external and internal environments, regulating the interchange between the two and performing immunological surveillance. The connective tissue shares a close relationship with the central nervous system, the musculoskeletal system and the immune system. Alterations in brain connectivity are common to various developmental disorders, including ASD, and for this reason here we put forward the hypothesis that alterations in the physiological activity of microglia could be implicated in the pathogenesis of ASD. Also, muscle hypotonia is likely to clinically correlate with an altered sensoriality and, in fact, discomfort or early muscle fatigue are often reported in ASDs. Furthermore, patients with ASD often suffer from intestinal dysfunctions, malabsorption and leaky gut syndrome, all phenomena that may be linked to reduced intestinal connectivity. In addition, at the cutaneous and subcutaneous levels, ASDs show a greater predisposition to inflammatory events due to the lack of adequate release of anti-inflammatory mediators. Alveolar-capillary dysfunctions have also been observed in ASD, most frequently interstitial inflammations, immune-mediated forms of allergic asthma, and bronchial hyper-reactivity. Therefore, in autism, altered connectivity can result in phenomena of altered sensitivity to environmental stimuli. The following interpretative model, that we define as the "connectivome theory," considers the alterations in connective elements of common mesodermal origin located in the various organs and apparatuses and entails the evaluation and interpretation of ASDs through also highlighting somatic elements. We believe that this broader approach could be helpful for a more accurate analysis, as it is able to enrich clinical evaluation and define more multidisciplinary and personalized interventions.
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Mosaic trisomy 20 is a genetic condition in which three chromosomes 20 are found in some cells. Its clinical phenotype seems to be highly variable, with most features not reported across all individuals and not considered pathognomonic of the condition. Limited and recent evidence indicates that neuropsychiatric manifestations may be more present in the context of trisomy 20 than was once thought. Here, we present a case of a 14-year-old female adolescent of White/Caucasian ethnicity with mosaic trisomy 20, who was admitted twice to an inpatient Child and Adolescent Neuropsychiatry Unit for persisting self-injury and suicidal ideation. A severe and complex neuropsychiatric presentation emerged at the cognitive, emotional, and behavioral levels, including mild neurodevelopmental issues, isolation, socio-relational difficulties, depressed mood, temper outbursts, irritability, low self-esteem, lack of interest, social anxiety, panic attacks, self-cutting, and low-average-range and heterogeneous intelligence quotient profile. Particularly, the patient was considered at high risk of causing harm, mainly to self, and appeared to be only partially responsive to medication, even when polypharmacy was attempted to improve clinical response. Except for school bullying, no other severe environmental risk factors were present in the patient's history. The patient received a diagnosis of disruptive mood dysregulation disorder.