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1.
Front Neurol ; 15: 1441128, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39220734

RESUMEN

Background: Gross motor function impairments and manual dexterity deficits are frequently observed in children and adolescents with Cerebral Palsy (CP), having a major impact on their activity level and autonomy. Improving manual dexterity and activity level of patients with CP is often the focus of rehabilitation. Novel and adjuvant treatment methods that could support the standard training also in chronic conditions are a research priority. The transcutaneous Vagus Nerve Stimulation (tVNS) is a non-invasive brain stimulation technique, which provides a bottom-up stimulation of subcortical and cortical brain structures, enhancing brain GABA and Noradrenaline levels. This technique may play a pivotal role in brain plasticity, which has not been tested in CP patients before. Methods: 44 children and adolescents with CP will be involved, treated in pairs in a randomized, double-blind, pre-post test study. The two groups will undergo the Hand-Arm Bimanual Intensive Therapy Including Lower Extremities (HABIT-ILE) for 2 consecutive weeks, with 3 h daily sessions for 5 days per week, for an overall time interval of 30 h; the training will be combined with the application for 75 min/day of active or sham tVNS, in separate, randomly allocated groups. The primary outcome measure will include the scores at the Assisting Hand Assessment and Box and Block Test, and at an ad-hoc visuomotor task evaluating manual visuomotor control. Secondary outcomes will include the scores at the Children's Hand Experience Questionnaire, Canadian Occupational Performance Measure, Melbourne Assessment of Unilateral Upper Limb Function, Gross Motor Function Measure, Vineland, Pediatric quality of life inventory. The evaluation points will include pre (T0), post (T1) and 3-month follow up (T2) assessments. Safety and tolerability will also be assessed. Results: The results of this trial will assess whether tVNS can effectively boost the effects of an intensive two-week bimanual training, in improving manual dexterity in children and adolescents with cerebral palsy, ensuring safety and tolerability throughout the intervention period.Clinical trial registration: ClinicalTrials.gov, NCT06372028.

2.
Brain Sci ; 14(8)2024 Aug 14.
Artículo en Inglés | MEDLINE | ID: mdl-39199503

RESUMEN

Sensory-motor integration represents a complex process requiring proper orchestration among multiple sources of sensory information to ensure the best task-related motor output [...].

3.
J Exp Child Psychol ; 247: 106037, 2024 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-39137505

RESUMEN

Since the COVID-19 pandemic, both the public and researchers have raised questions regarding the potential impact of protective face-mask wearing on infants' development. Nevertheless, limited research has tested infants' response to protective face-mask wearing adults in real-life interactions and in neurodiverse populations. In addition, scarce attention was given to changes in interactive behavior of adults wearing a protective face-mask. The aims of the current study were (1) to examine differences in 12-month-old infants' behavioral response to an interactive parent wearing a protective face-mask during face-to-face interaction, (2) to investigate potential differences in infants at higher likelihood for autism (HL-ASD) as compared with general population (GP) counterparts, and (3) to explore significant differences in parents' behaviors while wearing or not wearing a protective face-mask. A total of 50 mother-infant dyads, consisting of 20 HL-ASD infants (siblings of individuals with autism) and 30 GP infants, participated in a 6-min face-to-face interaction. The interaction was videotaped through teleconferencing and comprised three 2-min episodes: (a) no mask, (b) mask, and (c) post-mask. Infants' emotionality and gaze direction, as well as mothers' vocal production and touching behaviors, were coded micro-analytically. Globally, GP infants exhibited more positive emotionality compared with their HL-ASD counterparts. Infants' negative emotionality and gaze avoidance did not differ statistically across episodes. Both groups of infants displayed a significant increase in looking time toward the caregiver during the mask episode. No statistically significant differences emerged in mothers' behaviors. These findings suggest that the use of protective face-masks might not negatively affect core dimensions of caregiver-infant interactions in GP and HL-ASD 12-month-old infants.


Asunto(s)
Máscaras , Humanos , Femenino , Masculino , Lactante , Adulto , COVID-19/prevención & control , COVID-19/psicología , Trastorno Autístico/psicología , Relaciones Madre-Hijo , Conducta del Lactante/psicología , Interacción Social
4.
Brain Sci ; 14(6)2024 May 21.
Artículo en Inglés | MEDLINE | ID: mdl-38928526

RESUMEN

In the processing of emotions, the brain prepares and reacts in distinctive manners depending upon the negative or positive nuance of the emotion elicitors. Previous investigations showed that negative elicitors generally evoke more intense neural activities than positive and neutral ones, as reflected in the augmented amplitude of all sub-components of the event-related potentials (ERP) late posterior positivity (LPP) complex, while less is known about the emotion of disgust. The present study aimed to examine whether the LPP complex during the processing of disgust stimuli showed greater amplitude than other emotion elicitors with negative or positive valences, thus confirming it as a neural marker of disgust-related negativity bias at earlier or later stages. Thus, in the present study, we leveraged the ERP technique during the execution of an affective self-administered visual stimuli task to disentangle the neural contributions associated with images of positive, negative, disgust, or neutral emotions. Crucially, we showed that handling with disgust elicitors prompted the greatest neural activity and the highest delay during self-administration. Overall, we demonstrated progressive neural activities associated with the unpleasantness of the emotion elicitors and peculiar processing for disgust compared with all other emotions.

5.
Neurobiol Dis ; 199: 106580, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-38942323

RESUMEN

Anorexia nervosa (AN) is an eating disorder (ED) that has seen an increase in its incidence in the last thirty years. Compared to other psychosomatic disorders, ED can be responsible for many major medical complications, moreover, in addition to the various systemic impairments, patients with AN undergo morphological and physiological changes affecting the cerebral cortex. Through immunohistochemical studies on portions of postmortem human brain of people affected by AN and healthy individuals, and western blot studies on leucocytes of young patients and healthy controls, this study investigated the role in the afore-mentioned processes of altered redox state. The results showed that the brain volume reduction in AN could be due to an increase in the rate of cell death, mainly by apoptosis, in which mitochondria, main cellular organelles affected by a decreased dietary intake, and a highly compromised intracellular redox balance, may play a pivotal role.


Asunto(s)
Anorexia Nerviosa , Encéfalo , Estrés Oxidativo , Humanos , Anorexia Nerviosa/metabolismo , Anorexia Nerviosa/patología , Estrés Oxidativo/fisiología , Encéfalo/metabolismo , Encéfalo/patología , Femenino , Adulto , Adulto Joven , Adolescente , Apoptosis/fisiología
6.
World Psychiatry ; 23(2): 191-208, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38727047

RESUMEN

We provide here the first bottom-up review of the lived experience of mental disorders in adolescents co-designed, co-conducted and co-written by experts by experience and academics. We screened first-person accounts within and outside the medical field, and discussed them in collaborative workshops involving numerous experts by experience - representing different genders, ethnic and cultural backgrounds, and continents - and their family members and carers. Subsequently, the material was enriched by phenomenologically informed perspectives and shared with all collaborators. The inner subjective experience of adolescents is described for mood disorders, psychotic disorders, attention-deficit/hyperactivity disorder, autism spectrum disorders, anxiety disorders, eating disorders, externalizing disorders, and self-harm behaviors. The recollection of individuals' past histories also indexes the prodromal (often transdiagnostic) features predating the psychiatric diagnosis. The experience of adolescents with mental disorders in the wider society is described with respect to their family, their school and peers, and the social and cultural context. Furthermore, their lived experience of mental health care is described with respect to receiving a diagnosis of mental disorder, accessing mental health support, receiving psychopharmacological treatment, receiving psychotherapy, experiencing peer support and mental health activism, and achieving recovery. These findings can impact clinical practice, research, and the whole society. We hope that this co-designed, co-conducted and co-written journey can help us maintain our commitment to protecting adolescents' fragile mental health, and can help them develop into a healthy, fulfilling and contributing adult life.

7.
J Autism Dev Disord ; 2024 May 03.
Artículo en Inglés | MEDLINE | ID: mdl-38700776

RESUMEN

This study tested the feasibility and efficacy of a Virtual Reality (VR) social prediction training (VR-Spirit) specifically designed for patients with congenital cerebellar malformation. The study is a randomised controlled trial in which 28 cerebellar patients aged 7-25 yo were randomly allocated to the VR-Spirit or to a control intervention in VR. The VR-Spirit required participants to compete with different avatars in scenarios that prompted them to form predictions about avatars' intentions. The control intervention consisted of games currently adopted for motor rehabilitation. Social prediction as well as secondary neuropsychological and behavioural outcomes were assessed at the beginning (T0), at the end (T2) and after 2 months (T3). The experimental group showed a significant increase, compared to the control participants, in social prediction assessed through a VR task. Moreover, at least at T3, the VR-Spirit enhanced the use of contextual predictions in a computer-based action prediction task. Importantly, these effects were generalized to secondary neuropsychological outcomes, specifically theory of mind and, only at T2, inhibition. No differences between the interventions were detected on emotional-behavioural problems. Lastly, both interventions showed high feasibility and acceptability. These findings confirm that it is possible to develop condition-specific rehabilitative training on the basis of neurocognitive functions impaired in case of congenital malformation. The VR-Spirit demonstrated to generalize its effects to theory of mind abilities, and it might be thus extended to other neurodevelopmental disorders that present social perception deficits and alterations of predictive processing.Trial registration: ISRCTN, ID: ISRCTN22332873. Retrospectively registered on 12 March 2018.

8.
Infant Behav Dev ; 75: 101947, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38593528

RESUMEN

The early emergence of social smiles is an important milestone of infants' socio-emotional development. Our aim was to assess how the use of protective facemasks by adults affects the display of social smiles in preterm (PT) and full-term (FT) infants at 3 months (corrected age for prematurity). We enrolled 30 FT and 30 PT infants (gestational age ≤ 32 weeks). Infants' social smiles displays were assessed at 2-3-month-age (corrected) across a three-episode (masked mother; unmasked mother; masked adult female stranger) videotaped interactive task. During each episode, the adult was instructed to maintain specific facial expressions (happy-smiling, sad-frowning, neutral-unresponsive) for 15 second windows and then instructed to interact spontaneously for 45 s (of which the first 15 s were coded). FT and PT infants did not differ in the display of social smiles. In both groups, social smiles were mostly exhibited in response to happy/smiling and spontaneously interacting partners. Overall, no effect of wearing a protective facemask emerged. The use of protective facemasks did not result in a lower display of social smiles. The findings suggest that FT and PT might be equally sensitive to their adult interactive partners in terms of social smiles displays at 2-3-month-age.


Asunto(s)
Expresión Facial , Recien Nacido Prematuro , Máscaras , Sonrisa , Humanos , Femenino , Sonrisa/psicología , Masculino , Recien Nacido Prematuro/fisiología , Recien Nacido Prematuro/psicología , Adulto , Lactante , Conducta Social , Recién Nacido , Desarrollo Infantil/fisiología , Conducta del Lactante/fisiología
9.
Neuroimage Clin ; 41: 103582, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38428326

RESUMEN

BACKGROUND: Converging evidence points to impairments of the predictive function exerted by the cerebellum as one of the causes of the social cognition deficits observed in patients with cerebellar disorders. OBJECTIVE: We tested the neurorestorative effects of cerebellar transcranial direct current stimulation (ctDCS) on the use of contextual expectations to interpret actions occurring in ambiguous sensory sceneries in a sample of adolescents and young adults with congenital, non-progressive cerebellar malformation (CM). METHODS: We administered an action prediction task in which, in an implicit-learning phase, the probability of co-occurrence between actions and contextual elements was manipulated to form either strongly or moderately informative expectations. Subsequently, in a testing phase, we probed the use of these contextual expectations for predicting ambiguous (i.e., temporally occluded) actions. In a sham-controlled, within-subject design, participants received anodic or sham ctDCS during the task. RESULTS: Anodic ctDCS, compared to sham, improved patients' ability to use contextual expectations to predict the unfolding of actions embedded in moderately, but not strongly, informative contexts. CONCLUSIONS: These findings corroborate the role of the cerebellum in using previously learned contextual associations to predict social events and document the efficacy of ctDCS to boost social prediction in patients with congenital cerebellar malformation. The study encourages the further exploration of ctDCS as a neurorestorative tool for the neurorehabilitation of social cognition abilities in neurological, neuropsychiatric, and neurodevelopmental disorders featured by macro- or micro-structural alterations of the cerebellum.


Asunto(s)
Enfermedades Cerebelosas , Estimulación Transcraneal de Corriente Directa , Adolescente , Humanos , Adulto Joven , Cerebelo , Aprendizaje , Cognición Social
10.
Am J Med Genet A ; 194(6): e63555, 2024 06.
Artículo en Inglés | MEDLINE | ID: mdl-38326731

RESUMEN

Heterozygous pathogenic variants in KDM6B have recently been associated to a rare neurodevelopmental disorder referred to as "Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities" and characterized by non-pathognomonic facial and body dysmorphisms, a wide range of neurodevelopmental and behavioral disorders and nonspecific neuroradiological findings. KDM6B encodes a histone demethylase, expressed in different tissues during development, which regulates gene expression through the modulation of chromatin accessibility by RNA polymerase. We herein describe a 11-year-old male patient carrying a novel de novo pathogenic variant in KDM6B exhibiting facial dysmorphisms, dysgraphia, behavioral traits relatable to oppositional defiant, autism spectrum, and attention deficit hyperactivity disorders, a single seizure episode, and a neuroimaging finding of a single cerebellar heterotopic nodule, never described to date in this genetic condition. These findings expand the phenotypic spectrum of this syndrome, highlighting the potential role for KDM6B in cerebellar development and providing valuable insights for genetic counseling.


Asunto(s)
Cerebelo , Histona Demetilasas con Dominio de Jumonji , Trastornos del Neurodesarrollo , Humanos , Masculino , Niño , Histona Demetilasas con Dominio de Jumonji/genética , Trastornos del Neurodesarrollo/genética , Trastornos del Neurodesarrollo/patología , Cerebelo/anomalías , Cerebelo/patología , Cerebelo/diagnóstico por imagen , Fenotipo , Mutación/genética
11.
Cerebellum ; 23(4): 1736-1740, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38334877

RESUMEN

KBG syndrome is a rare genetic disorder caused by heterozygous pathogenic variants in ANKRD11. Affected individuals have developmental delay, short stature, characteristic facial features, and other dysmorphic findings. To date, a spectrum of unspecific neuroradiological defects has been reported in KBG patients, such as cortical defects, white matter abnormalities, corpus callosum, and cerebellar vermis hypoplasia.Deep clinical and neuroradiological phenotyping and genotype of a patient presenting with mild cognitive and behavioral problems were obtained after written informed consent.We herein describe the first KBG patient presenting with cerebellar heterotopia, a heterogeneous malformation characterized by the presence of clusters of neurons within the white matter of cerebellar hemispheres.This novel association broadens the neuroradiological spectrum of KBG syndrome, and further prompts to investigate the potential functions of ANKRD11 in cerebellar development.


Asunto(s)
Cerebelo , Humanos , Cerebelo/diagnóstico por imagen , Cerebelo/anomalías , Cerebelo/patología , Discapacidad Intelectual/genética , Discapacidad Intelectual/diagnóstico por imagen , Discapacidad Intelectual/patología , Anomalías Múltiples/genética , Anomalías Múltiples/diagnóstico por imagen , Anomalías Múltiples/patología , Imagen por Resonancia Magnética , Masculino , Facies , Enfermedades Renales Quísticas/genética , Enfermedades Renales Quísticas/diagnóstico por imagen , Enfermedades Renales Quísticas/patología , Femenino , Síndromes Neurocutáneos/diagnóstico por imagen , Síndromes Neurocutáneos/genética , Síndromes Neurocutáneos/patología , Niño , Coristoma/diagnóstico por imagen , Coristoma/patología , Enfermedades del Desarrollo Óseo , Anomalías Dentarias
12.
Clin Psychol Psychother ; 31(1): e2955, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38356195

RESUMEN

Family influence is a crucial factor in the onset and maintenance of eating disorders. Nonsuicidal self-injury (NSSI) and restrictive eating disorders (REDs) co-occur in a significant percentage of subjects but family functioning of these families remains underexplored. This study examines the family functioning perceptions of 80 families with adolescents experiencing RED, comparing those with and without NSSI, alongside a control group, utilising the FACES-IV assessment. The study also aims to compare the triadic (adolescent-mother-father) perception of family functioning in the three groups. The results reveal distinct family dynamics in adolescents with both RED and NSSI, marked by problematic functioning perceptions from all family members and low parental agreement. A further understanding of the family functioning of adolescents with RED with NSSI can help clinicians in defining the treatment setting.


Asunto(s)
Trastornos de Alimentación y de la Ingestión de Alimentos , Conducta Autodestructiva , Femenino , Humanos , Adolescente , Trastornos de Alimentación y de la Ingestión de Alimentos/complicaciones , Relaciones Familiares , Padres , Conducta Autodestructiva/complicaciones , Madres
13.
Dev Med Child Neurol ; 66(3): 379-388, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-37593819

RESUMEN

AIM: To describe visual function in children with Joubert syndrome and to investigate its possible association with diagnostic and developmental aspects. METHOD: This retrospective cross-sectional work included 59 patients (33 male; mean age 9 years 2 months, standard deviation 6 years 3 months, range 4 months to 23 years) diagnosed with Joubert syndrome from January 2002 to December 2020. Data about clinical (neurological, neuro-ophthalmological, developmental/cognitive) and diagnostic (e.g. genetic testing, neuroimaging, systemic involvement) evaluations were collected in a data set during a review of medical records. Clinical and diagnostic variables were described in terms of raw counts and percentages. A χ2 test was conducted to investigate their association with neuropsychological skills. RESULTS: Ocular motor apraxia was highly represented in our cohort (75%), with a high prevalence of refractive defects and retinal abnormalities. Developmental delay/intellectual disability was frequent (in 69.5% of the sample), associated with retinal dystrophy (p = 0.047) and reduced visual acuity both for near (p = 0.014) and for far distances (p = 0.017). INTERPRETATION: On the basis of the relevance of oculomotor and perceptual alterations and their impact on overall and cognitive impairment, we encourage early and multidisciplinary assessment and follow-up of visual function in children with Joubert syndrome. This would help in planning a personalized rehabilitation to sustain functional vision. Further studies will be important to explore the link between biological aspects and global functioning in children with Joubert syndrome. WHAT THIS PAPER ADDS: Perceptual deficits and oculomotor impairments frequently coexist in Joubert syndrome. Retinal dysfunction may be present despite the absence of funduscopic abnormalities. Both perceptual and oculomotor impairments negatively affect cognitive development in Joubert syndrome.


Asunto(s)
Anomalías Múltiples , Anomalías del Ojo , Enfermedades Renales Quísticas , Trastornos de la Motilidad Ocular , Niño , Humanos , Masculino , Lactante , Cerebelo/diagnóstico por imagen , Anomalías del Ojo/complicaciones , Enfermedades Renales Quísticas/complicaciones , Retina/diagnóstico por imagen , Trastornos de la Motilidad Ocular/genética , Estudios Retrospectivos , Estudios Transversales , Imagen por Resonancia Magnética
14.
Am J Med Genet A ; 194(1): 82-87, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37750385

RESUMEN

Brunner syndrome is a recessive X-linked disorder caused by pathogenic variants in the monoamine oxidase A gene (MAOA). It is characterized by distinctive aggressive behavior, mild intellectual disability, sleep disturbances, and typical biochemical alterations deriving from the impaired monoamine metabolism. We herein describe a 5-year-old boy with developmental delay, autistic features, and myoclonic epilepsy, and his mother, who had mild intellectual disability and recurrent episodes of palpitations, headache, abdominal pain, and abdominal bloating. Whole exome sequencing allowed detection of the maternally-inherited variant c.410A>G, (p.Glu137Gly) in the MAOA gene. The subsequent biochemical studies confirmed the MAOA deficiency both in the child and his mother. Given the serotonergic symptoms associated with high serotonin levels found in the mother, treatment with a serotonin reuptake inhibitor and dietary modifications were carried out, resulting in regression of the biochemical abnormalities and partial reduction of symptoms. Our report expands the phenotypic spectrum of Brunner disease, bringing new perspectives on the behavioral and neurodevelopmental phenotype from childhood to adulthood.


Asunto(s)
Discapacidad Intelectual , Masculino , Femenino , Humanos , Niño , Adolescente , Adulto Joven , Preescolar , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/genética , Discapacidad Intelectual/patología , Madres , Monoaminooxidasa/química , Monoaminooxidasa/genética , Monoaminooxidasa/metabolismo , Fenotipo
15.
Cerebellum ; 23(2): 579-588, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-37351729

RESUMEN

The neuropsychological characteristics of the cerebellar cognitive affective syndrome (CCAS) in congenital, non-progressive malformations of the cerebellum have been scarcely investigated, and even less is known for Joubert syndrome (JS), an inherited, non-progressive cerebellar ataxia characterized by the so-called molar tooth sign. The few studies on this topic reported inconsistent results about intellectual functioning and specific neuropsychological impairments. The aim of this research is to examine the neuropsychological profile of JS compared to other congenital cerebellar malformations (CM), considering individual variability of intellectual quotient (IQ) in the two groups. Fourteen patients with JS and 15 patients with CM aged 6-25 years were tested through a comprehensive, standardized neuropsychological battery. Their scores in the neuropsychological domains were inspected through descriptive analysis and compared by mean of MANOVA and ANOVA models, then replicated inserting IQ as covariate. The two groups showed a largely overlapping neuropsychological profile, consistent with CCAS. However, the JS group showed worse performance in visual-spatial memory compared to CM patients, although this difference was mitigated when considering IQ. These findings highlight a divergence between JS and other CM in visual-spatial memory, which might suggest a critical role of the cerebellum in recalling task-relevant memories and might inform rehabilitative interventions.


Asunto(s)
Anomalías Múltiples , Enfermedades Cerebelosas , Cerebelo/anomalías , Anomalías del Ojo , Enfermedades Renales Quísticas , Retina/anomalías , Humanos , Anomalías Múltiples/psicología , Enfermedades Renales Quísticas/genética , Enfermedades Renales Quísticas/psicología , Anomalías del Ojo/psicología
16.
J Pineal Res ; 76(1): e12932, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38111174

RESUMEN

Preterm infants cannot counteract excessive reactive oxygen species (ROS) production due to preterm birth, leading to an excess of lipid peroxidation with malondialdehyde (MDA) production, capable of contributing to brain damage. Melatonin (ME), an endogenous brain hormone, and its metabolites, act as a free radical scavenger against ROS. Unfortunately, preterms have an impaired antioxidant system, resulting in the inability to produce and release ME. This prospective, multicenter, parallel groups, randomized, double-blind, placebo-controlled trial aimed to assess: (i) the endogenous production of ME in very preterm infants (gestational age ≤ 29 + 6 WE, 28 infants in the ME and 26 in the placebo group); (ii) the exogenous hormone availability and its metabolization to the main metabolite, 6-OH-ME after 15 days of ME oral treatment; (iii) difference of MDA plasma concentration, as peroxidation marker, after treatment. Blood was collected before the first administration (T1) and after 15 days of administration (T2). ME and 6-OH-ME were detected by liquid chromatography tandem mass spectrometry, MDA was measured by liquid chromatograph with fluorescence detection. ME and 6-OH-ME were not detectable in the placebo group at any study time-point. ME was absent in the active group at T1. In contrast, after oral administration, ME and 6-OH-ME resulted highly detectable and the difference between concentrations T2 versus T1 was statistically significant, as well as the difference between treated and placebo groups at T2. MDA levels seemed stable during the 15 days of treatment in both groups. Nevertheless, a trend in the percentage of neonates with reduced MDA concentration at T2/T1 was 48.1% in the ME group versus 38.5% in the placebo group. We demonstrated that very preterm infants are not able to produce endogenous detectable plasma levels of ME during their first days of life. Still, following ME oral administration, appreciable amounts of ME and 6-OH-ME were available. The trend of MDA reduction in the active group requires further clinical trials to fix the dosage, the length of ME therapy and to identify more appropriate indexes to demonstrate, at biological and clinical levels, the antioxidant activity and consequent neuroprotectant potential of ME in very preterm newborns.


Asunto(s)
Melatonina , Nacimiento Prematuro , Femenino , Recién Nacido , Humanos , Antioxidantes/farmacología , Antioxidantes/metabolismo , Melatonina/uso terapéutico , Recien Nacido Prematuro , Especies Reactivas de Oxígeno , Neuroprotección , Estudios Prospectivos
17.
Res Dev Disabil ; 144: 104654, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38101210

RESUMEN

BACKGROUND: Siblings, typically developing brothers and sisters of children with neurodevelopmental disorders (NDD), are at risk for long-term psychosocial difficulties. OBJECTIVE: The present study aims at obtaining an in-depth insight on the lived experience of siblings of children with NDD through their parents' perspective. METHODS: Seven mothers and three fathers who signed up their sibling children (12-15 years) to a peer-support intervention participated in a semi-structured videoconference interview according to the Interpretative Phenomenological Analysis (IPA) qualitative approach. Interviews were conducted by trained personnel and independently coded. RESULTS: Thematic analysis highlighted three core themes and twelve sub-themes: "The complexity of the fraternal relationship" (three sub-themes), "Growing up with diversity" (six sub-themes), and "Me as a sibling" (three sub-themes). CONCLUSIONS: The study provides insight on parents' perception of the lived experience of their sibling children, thus spreading awareness on the everyday difficulties families with a child with NDD may encounter. WHAT THIS PAPER ADDS: The present study contributes to the scarce literature on the lived experience of siblings of children with NDD, and notably it is one of the few qualitative studies on the topic which makes use of an IPA interviewing style. This methodological choice allowed for an in-depth understanding of siblings' strengths and struggles as perceived by their own parents, and of how their brother/sister's condition impacted on their family role, socio-emotional development and personality. Recounting siblings' experiences contributes in spreading awareness on the everyday difficulties siblings and their families face when cohabitating with a child with NDD.


Asunto(s)
Trastornos del Neurodesarrollo , Hermanos , Masculino , Niño , Femenino , Humanos , Hermanos/psicología , Relaciones entre Hermanos , Adaptación Psicológica , Madres , Percepción
18.
Child Adolesc Psychiatry Ment Health ; 17(1): 139, 2023 Dec 19.
Artículo en Inglés | MEDLINE | ID: mdl-38115116

RESUMEN

BACKGROUND: Alexithymia is the inability to identify and describe one's own emotions. Adolescents who suffer from Restrictive Eating Disorders (REDs) show a higher prevalence of alexithymia than the general population. METHODS: The study explored the correlation between levels of alexithymia in mothers, fathers, and adolescents affected by REDs and patients' ability to recognize their emotions. The study also aimed to evaluate if patients' emotional distress can significantly impact the severity of their disorder and functioning measured by the Clinical Global Impression Scale - Severity (CGI-S) and the Children's Global Assessment Scale (CGAS). We enrolled 67 families of adolescents affected by REDs. Parents and patients' levels of alexithymia were assessed through the Toronto Alexithymia Scale (TAS-20). Spearman's correlation shows a statistically significant correlation between mothers and patients' levels of alexithymia. RESULTS: Our findings also suggest that fathers and mothers' TAS scores correlate with each other. However, there is no statistically significant relationship between the influence of the TAS scores of fathers and sons/daughters. CONCLUSIONS: In conclusion, mothers' level of alexithymia could influence both fathers and patients' difficulty in identifying and describing their own emotions. This relationship can be investigated further when considering externally oriented thinking. However, the severity of the disease and overall functioning do not appear to be affected by patients' levels of alexithymia.

19.
Pediatr Rep ; 15(4): 766-773, 2023 Dec 18.
Artículo en Inglés | MEDLINE | ID: mdl-38133436

RESUMEN

While there is substantial agreement on the diagnostic criteria for autism spectrum disorder, it is also acknowledged that it has a broad range of clinical presentations. This can complicate the diagnostic process and aggravate the choice of the most suitable rehabilitative strategy for each child. Attentional difficulties are among the most frequently reported comorbidities in autism spectrum disorder. We investigated the role of SNAP-25 polymorphisms. Synaptosome-associated protein 25 (SNAP25) is a presynaptic membrane-binding protein; it plays a crucial role in neurotransmission and has already been studied in numerous psychiatric disorders. It was also seen to be associated with hyperactivity in children with autism spectrum disorder. We collected clinical, behavioral and neuropsychological data on 41 children with a diagnosis of autism spectrum disorder, and then genotyped them for five single-nucleotide polymorphisms of SNAP-25. Participants were divided into two groups according to the Autism Diagnostic Observation Schedule (ADOS-2) Severity Score. In the group with the highest severity score, we found significant associations of clinical data with polymorphism rs363050 (A/G): children with the GG genotype had lower total IQ, more severe autistic functioning and more attentional difficulties. Our research could be the starting point for outlining a possible endophenotype among patients with autism spectrum disorder who are clinically characterized by severe autistic functioning and significant attentional difficulties.

20.
Children (Basel) ; 10(11)2023 Nov 08.
Artículo en Inglés | MEDLINE | ID: mdl-38002885

RESUMEN

Suicide is an important public health issue. To examine the differences in personality characteristics between a group of adolescents with suicidal ideation (SI) and a group with a history of suicidal attempts (SA), we conducted a cross-sectional study. We enrolled 55 adolescents (51 females; 12-18 y.o.) who presented SI and/or SA. Using the Columbia Suicide Severity Rating Scale, we divided the sample into two groups: adolescents with SI and adolescents with SA. All participants filled in the Minnesota Multiphasic Personality Inventory-Adolescent (MMPI-A). Adolescents in the SA group had greater difficulties in social relations, risky behaviors, and more intense suicidal ideation compared to those in the SI group. Adolescents in the SA group scored higher in Omission, in the Lie Scale, the Conduct Problem Scale, the Less Aspirations Scale, the Repression Scale in the MMPI-A, and item 283 of the MAST compared to the other group. The results suggest that using the MMPI-A to assess certain features (e.g., tendency to lie, repression) may be helpful in identifying young people who are at high risk of suicide. However, further research is required to determine the effectiveness of using this instrument.

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