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1.
J Psychosom Res ; 178: 111610, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38359638

RESUMEN

OBJECTIVES: To explore potential alterations of the Body Schema, the implicit sensorimotor representation of one's own body, in patients with Functional Movement Disorders (FMD, Motor Conversion Disorders), characterized by neurological symptoms of altered voluntary motor function that cannot be explained by typical medical conditions. This investigation is prompted by the potential dissociation from their reportedly intact sense of ownership. METHODS: 10 FMD patients and 11 healthy controls (HC) underwent the Forearm Bisection Task, aimed at assessing perceived body metrics, which consists in asking the subject, blindfolded, to repeatedly point at the perceived middle point of their dominant forearm with the index finger of their contralateral hand, and a psychometric assessment for anxiety, depression, alexithymia, and tendency to dissociation. RESULTS: FMD patients bisected their forearm more proximally (with an increased shift towards their elbow equal to 7.5%) with respect to HC; average bisection point was positively associated with anxiety levels in the whole sample, and with the tendency to dissociation in the FMD group. CONCLUSIONS: FMD patients perceive their forearm as shorter than HC, suggesting an alteration of their Body Schema. The Body Schema can go through short- and long-term updates in the life course, mainly related to the use of each body segment; we speculate that, despite FMD being a disorder of functional nature, characterized by variability and fluctuations in symptomatology, the lack of sense of agency over a body part might be interpreted by the nervous system as disuse and hence influence the Body Schema, as deficits of organic etiology do.


Asunto(s)
Trastornos de Conversión , Trastornos del Movimiento , Humanos , Imagen Corporal , Antebrazo , Ansiedad , Trastornos Disociativos
2.
Seizure ; 107: 21-27, 2023 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-36933399

RESUMEN

BACKGROUND: Patients with functional neurological (conversion) disorder (FND) have historically been difficult to treat. Outcomes have been studied in research trials, documenting improvements; however, limited information is available from a community-treated FND cohort. OBJECTIVES: We aimed to examine clinical outcomes in outpatients with FND treated with the Neuro-Behavioral Therapy (NBT) approach. These uncontrolled setting treatment data could complement more structured clinical studies results. METHODS: We conducted a retrospective chart review of consecutive patients diagnosed with FND, ages 17 to 75, who were treated with the NBT workbook at the Rhode Island Hospital Behavioral Health clinic between 2014 and 2022. NBT consisted of 45-minute, individual, outpatient sessions, in clinic or via telehealth with one clinician. Global Assessment of Functioning (GAF), and Clinical Global Impression (CGI) -Severity, and -Improvement were scored for every appointment. RESULTS: Baseline characteristics are available for 107 patients. Mean age at FND symptom onset was 37 years. Patients had a mix of FND semiologies, which included Psychogenic Nonepileptic Seizures (71%), Functional Movement Disorder (24.3%), Functional Sensory Disorder (14%), Functional Weakness (6.5%), and Functional Speech Disorder (5.6%). Clinical evaluation scores revealed improvements over time. CONCLUSIONS: We describe a well-characterized sample of patients with various and mixed FND semiologies, who received manualized therapy, NBT, in an outpatient clinic. Patients had similar psychosocial profiles to those in clinical studies and displayed improvement in clinical measures. These results demonstrate the practicability of NBT for motor FND semiologies and for PNES, in a "real-world" outpatient practice, extending care beyond structured clinical trials.


Asunto(s)
Trastornos de Conversión , Enfermedades del Sistema Nervioso , Humanos , Adulto , Adolescente , Adulto Joven , Persona de Mediana Edad , Anciano , Enfermedades del Sistema Nervioso/terapia , Enfermedades del Sistema Nervioso/diagnóstico , Estudios Retrospectivos , Trastornos de Conversión/diagnóstico , Pacientes Ambulatorios , Instituciones de Atención Ambulatoria
3.
J Autism Dev Disord ; 53(8): 3295-3300, 2023 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-35266078

RESUMEN

Aim of the present study was to evaluate the relationship between sensory sensitivity and autistic eating behaviours or Eating Disorders (EDs) symptomatology, in a group of 75 adults with Autism Spectrum Disorders (ASDs) without intellectual disabilities, through a series of self-report questionnaires. We found that, controlling for demographic and clinical features: (i) hypersensitivity in the vision domain predicted higher levels of both EDs symptoms and autistic eating behaviours; (ii) hyposensitivity in the taste domain predicted higher levels of EDs symptoms. This gives preliminary evidence that not only in children diagnosed with ASDs, but even in adult individuals, the threshold of sensory sensitivity is associated with dysfunctional eating behaviours.


Asunto(s)
Trastorno del Espectro Autista , Trastornos de Alimentación y de la Ingestión de Alimentos , Discapacidad Intelectual , Niño , Adulto , Humanos , Trastorno del Espectro Autista/diagnóstico , Discapacidad Intelectual/epidemiología , Discapacidad Intelectual/complicaciones , Encuestas y Cuestionarios , Autoinforme , Trastornos de Alimentación y de la Ingestión de Alimentos/complicaciones , Trastornos de Alimentación y de la Ingestión de Alimentos/epidemiología
4.
Front Psychiatry ; 13: 943098, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36090363

RESUMEN

Autism spectrum disorders (ASDs) and functional neurological disorders (FNDs) share some clinical characteristics such as alexithymia, sensory sensitivity and interoceptive issues. Recent evidence shows that both the disorders present symptoms compatible with a diagnosis of hypermobile Ehlers-Danlos Syndrome and hypermobile spectrum disorders (hEDS/HSD), a heterogeneous group of heritable connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Here we compared the prevalence of hEDS/HSD-related symptoms in a group of patients with FNDs, of people with ASDs without intellectual disabilities, and a non-clinical comparison group (NC). Twenty patients with FNDs, 27 individuals with ASDs without intellectual disabilities and 26 NC were recruited and completed the Self-reported screening questionnaire for the assessment of hEDS/HSD-related symptoms (SQ-CH). We found that 55% of the patients with FNDs, 44.4% of the individuals with ASDs and 30.8% of NC scored above the cut-off at the SQ-CH; SQ-CH scores of both FNDs and ASDs group were significantly higher than the NC group's ones. In conclusion, both ASDs and FNDs individuals present hEDS/HSD-related symptoms in a higher number than the general population. Imputable mechanisms include (i) overwhelming of executive functions with consequent motor competence impairment for ASDs individuals, and (ii) exacerbation of FNDs symptoms by physical injury and chronic pain due to abnormal range of joint mobility. Moreover, we speculated that the amygdala and the anterior cingulate cortex circuitry might be responsible for the imbalances at the proprioceptive, interoceptive, and emotional levels.

5.
Neurol Sci ; 43(8): 5067-5073, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-35511383

RESUMEN

Functional neurological disorders (FNDs) and autism spectrum disorders (ASDs) share common features in terms of deficits in emotion regulation and recognition, sensory sensitivity, proprioception and interoception. Nevertheless, few studies have assessed their overlap. We recruited 21 patients with FNDs, 30 individuals with ASDs without intellectual disabilities and 45 neurotypical adults (NA). Participants completed: the Autism Quotient (AQ); the Ritvo Autism Asperger Diagnostic Scale-Revised (RAADS-R); and a questionnaire assessing functional neurological symptoms (FNS). ASDs participants also completed the Sensory Perception Quotient-Short Form (SPQ-SF35), assessing sensory sensitivity. In the FNDs sample, no patient scored above the clinical cut-off at the AQ and the 19% scored above the cut-off at the RAADS-R, a prevalence similar to the one we found in NA (15.6%; both p > 0.05). The 86.7% of participants with ASDs reported at least one FNS, a prevalence significantly higher than the NA one (35.6%, p < 0.001). In the ASDs sample, tactile hypersensitivity was found to be a risk factor for functional weakness (OR = 0.74, p = 0.033) and paraesthesia (OR = 0.753, p = 0.019). In conclusions, FNDs individuals did not present autistic traits more than NA, but ASDs individuals presented a higher number of FNSs than NA; this rate was associated with higher sensory sensitivity, especially in the touch domain.


Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Trastornos de Conversión , Adulto , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/epidemiología , Trastorno Autístico/diagnóstico , Humanos , Propiocepción , Encuestas y Cuestionarios
6.
Autism Res ; 14(7): 1434-1443, 2021 07.
Artículo en Inglés | MEDLINE | ID: mdl-33738980

RESUMEN

There is a growing interest in the relationship between autism spectrum disorders (ASDs) and eating disorders (EDs), two relatively common conditions lying on a spectrum from mild to severe clinical features. However, only limited data are available about pathological eating behaviors throughout adults on the autistic spectrum. The aim of the present study is to assess dysfunctional eating behaviors, including EDs manifestations and ASDs-related eating disturbances, in a population of adults with ASDs without intellectual disabilities. We recruited 106 adults on the autistic spectrum, without intellectual disability and 103 neurotypical adults (NAs). Participants completed the "Eating Attitude Test" (EAT-26), to measure symptoms and concerns characteristic of EDs, and the "Swedish Eating Assessment for Autism Spectrum Disorders" (SWEAA), to assess eating behaviors frequently observed within the autistic spectrum. Participants with ASDs scored significantly higher than NA at the EAT-26 and at the SWEAA. Moreover, participants with ASDs scored higher than NA at the EAT-26 subscales Dieting and Bulimia. The difference between groups remained significant after controlling for the effect of age, biological sex, and BMI. These results suggest that adults with ASDs without intellectual disability presented not only a higher prevalence of eating disturbances typical of the autistic spectrum, but also other symptoms of EDs in comparison to NA. LAY SUMMARY: For both scales assessing eating disturbances (EAT-26 and SWEAA), participants with ASDs scored higher than NA, presenting a higher prevalence both of eating disturbances typical of ASDs and of ED symptoms (distorted body image, tendency toward bulimic behaviors, and self-control of eating).


Asunto(s)
Trastorno del Espectro Autista , Discapacidad Intelectual , Autocontrol , Adulto , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/epidemiología , Humanos , Discapacidad Intelectual/complicaciones , Discapacidad Intelectual/epidemiología , Prevalencia
7.
Eat Weight Disord ; 26(8): 2771-2777, 2021 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-33582970

RESUMEN

PURPOSE: To explore the prevalence of symptoms of anxiety and depression, along with PTSD- and ED-related symptoms, across a sample of patients with Eating Disorders (EDs) compared to a group of healthy controls (HC) during the lockdown period in Italy; to assess whether patients' reported aforementioned psychiatric symptoms improved, remained stable or worsened with the easing of the lockdown measures. METHODS: t0 assessment (during lockdown): 59 ED patients and 43 HC completed an online survey, including the Depression, Anxiety and Stress Scale-21 items (DASS-21), the Impact of Event Scale-Revised (IES-R), the Perceived Stress Scale (PSS), and specific ad-hoc questions extracted from the Eating Disorder Examination-Questionnaire; t1 assessment (post-lockdown): 40 EDs patients, a subset of the t0 sample, completed the same assessment 2 months after t0. RESULTS: EDs patients scored higher than HC at the DASS-21, IES-R and PSS. At t1, levels of stress, anxiety and depression were not different than at t0, but symptoms related to post-traumatic stress disorder (PTSD), patients' reported level of psychological wellbeing and specific EDs symptomatology improved. DISCUSSION: During the lockdown, EDs patients presented significantly higher levels of stress, anxiety, depression, PTSD- and ED-related symptoms than HC. With the easing of the lockdown, PTSD- and ED-related symptoms improved, but high levels of stress, anxiety and depression persisted. LEVEL OF EVIDENCE: Level I, experimental study.


Asunto(s)
COVID-19 , Trastornos de Alimentación y de la Ingestión de Alimentos , Ansiedad , Control de Enfermedades Transmisibles , Depresión , Humanos , Italia , Estudios Longitudinales , SARS-CoV-2
8.
Eat Weight Disord ; 26(5): 1541-1551, 2021 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-32757140

RESUMEN

PURPOSE: It has been widely shown that dissociative features might play a fundamental role in producing body image distortions in patients affected by eating disorders. Here, we hypothesize that the Mirror Gazing Test (MGT), a task consisting in mirror exposure in a condition of sensory deprivation, would elicit dissociative symptoms in a group of patients with anorexia nervosa (AN). METHODS: Fourteen patients with AN and fourteen healthy controls (HC) underwent a 10 min MGT and completed the Strange Face Questionnaire and a short version of the Clinician-Administered Dissociative States Scale, along with a psychological assessment for eating disorders psychopathology, anxiety and depression. RESULTS: AN patients reported a higher number of strange-face apparitions and dissociative sensations than HC during the MGT. Dissociative identity (compartmentalization of two or more identities) and depersonalization (detachment of bodily-self) were much higher in patients with AN than in HC. These findings were correlated with body dissatisfaction and disruption in interoceptive awareness. CONCLUSION: Dissociation and body image dysfunction are strongly connected in the pathophysiology of anorexia nervosa. Future research should investigate the same aspects in other psychiatric conditions characterized by body image distortions, such as Body Dysmorphic Disorder. LEVEL OF EVIDENCE: I, Experimental studies.


Asunto(s)
Anorexia Nerviosa , Trastorno Dismórfico Corporal , Imagen Corporal , Trastornos Disociativos , Cara , Humanos , Percepción Visual
9.
Epilepsy Behav ; 112: 107368, 2020 11.
Artículo en Inglés | MEDLINE | ID: mdl-32861024

RESUMEN

INTRODUCTION: Psychogenic nonepileptic seizures (PNES) and functional movement disorders (FMD) seem to represent the two ends of a continuum where different clinical phenotypes represent the manifestation of a common framework, involving dissociation. The aim of the present study was to assess dissociation and its subcomponents through the Mirror Gazing Test (MGT) in these functional neurological disorders (FNDs). MATERIALS AND METHODS: Eleven patients with PNES, 17 with FMD, and 18 healthy controls (HCs) underwent a 10-minute MGT and completed the Strange Face Questionnaire (SFQ), an ad-hoc questionnaire assessing the sensations and perceptions they had looking in the mirror, and a short version of the Clinician-Administered Dissociative States Scale (CADSS). RESULTS: Patients with PNES, FMD, and HCs did not differ at the total score of the SFQ. Patients with PNES scored higher than HCs at the SFQ-subscale Dissociative Identity/Compartmentalization, at the CADSS Total Score and at its subscale Dissociative Amnesia, while patients with FMD scored higher than HCs at the CADSS subscale Depersonalization. CONCLUSIONS: Patients with FMD reported more sensations falling in the detachment facet of dissociation, while patients with PNES in the compartmentalization one. We hypothesized that both facets of dissociation might be important pathophysiological processes for PNES and FMD and that different instruments (self-report clinical scales vs experimental tasks) might be able to detect different facets in different populations because they assess, respectively, "trait" and "state" dissociation.


Asunto(s)
Trastornos del Movimiento , Convulsiones , Diagnóstico Diferencial , Trastornos Disociativos/diagnóstico , Electroencefalografía , Humanos , Trastornos del Movimiento/diagnóstico , Trastornos del Movimiento/etiología , Trastornos Psicofisiológicos/complicaciones , Trastornos Psicofisiológicos/diagnóstico , Convulsiones/complicaciones , Convulsiones/diagnóstico , Encuestas y Cuestionarios
10.
IUBMB Life ; 63(5): 346-54, 2011 May.
Artículo en Inglés | MEDLINE | ID: mdl-21491556

RESUMEN

In vitro, and possibly in vivo, hemoglobin polymerization and red blood cell sickling appear to be widespread in codfish. In this article, we show that the hemoglobins of the two Arctic fish Lycodes reticulatus and Gadus morhua also have the tendency to polymerize, as monitored by dynamic light scattering experiments. The elucidation of the primary structure of the single hemoglobin of the zoarcid L. reticulatus shows the presence of a large number of cysteyl residues in α and ß chains. Their role in eliciting the ability to produce polymers was also addressed by MALDI-TOF and TOF-TOF mass spectrometry. The G.morhua globins are also rich in Cys, but unlike in L. reticulatus, polymerization does not seem to be disulfide driven. The widespread occurrence of the polymerization phenomenon displayed by hemoglobins of Arctic fish supports the hypothesis that this feature may bea response to stressful environmental conditions.


Asunto(s)
Gadus morhua , Hemoglobinas/química , Conformación Proteica , Secuencia de Aminoácidos , Animales , Regiones Árticas , Hemoglobinas/genética , Hemoglobinas/metabolismo , Humanos , Datos de Secuencia Molecular , Oxígeno/metabolismo , Polimerizacion , Alineación de Secuencia , Espectrometría de Masa por Láser de Matriz Asistida de Ionización Desorción
11.
Expert Rev Proteomics ; 6(2): 159-69, 2009 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-19385943

RESUMEN

Complete description of the complex network of cellular mechanisms and use of the network to predict the full range of cellular behaviors are major goals of systems biology. A key role in contemporary biology can be played by functional proteomics, which focuses on the elucidation of protein functions and the definition of cellular mechanisms at the molecular level. The attainment of these targets is strictly dependent on the identification of individual proteins within functional complexes in vivo. Isolation of interacting proteins relies on either affinity-based or immunoprecipitation procedures in which the protein bait and its specific partners can be fished out by their specific binding to ligand molecules immobilized on insoluble supports. These approaches led to the final identification of several proteins belonging to distinct complexes endowed with different biological functions. Assignment of each protein to a specific complex constitutes a tremendous problem that can only be partially solved using protein-protein interaction databases and literature information. The development of prefractionation methodologies to separate individual protein complexes while preserving their native interactions might then represent an essential tool for the future of functional proteomics. Prepurification of single complexes can only be pursued under native conditions on the basis of their physicochemical features, such as size, dimension (gel filtration chromatography) and density (gradient ultracentrifugation). Following prefractionation, the complex associated to a specific biological function can be isolated using affinity purification techniques. Functional proteomics approaches able to describe individual proteins belonging to complexes involved in specific cellular functions will have a terrific impact on future systems biology studies.


Asunto(s)
Proteínas/análisis , Proteómica/métodos , Animales , Inmunoprecipitación , Modelos Teóricos , Unión Proteica
12.
Hemoglobin ; 31(2): 113-20, 2007.
Artículo en Inglés | MEDLINE | ID: mdl-17486491

RESUMEN

A high oxygen affinity hemoglobin (Hb) variant, Hb J-Cape Town [alpha92(FG4)Arg-->Gln (alpha1), CGG-->CAG] was identified in a 30-year-old woman patient from Cosenza (Southern Italy) who had previously been diagnosed with juvenile polycythemia in other hospitals. The occurrence of the variant Hb was assessed by both cation exchange chromatography and liquid chromatography-mass spectrometry (LC-MS) analyses. A detailed structural and functional characterization of the variant was performed at both the protein and DNA level. Structural investigation of the Hb variant by mass spectrometric methodologies and peptide sequencing identified the amino acid replacement as Arg-->Gln at alpha92. The corresponding DNA mutation CGGCAG was assigned to codon 92 of the alpha1 gene by DNA sequencing. These findings highlight the importance of investigating the hypothesis of a high affinity variant in the presence of a polycythemia so as to avoid unnecessary bone marrow examination or radioactive treatment. This report represents the first observation of the Hb J-Cape Town variant in Italy.


Asunto(s)
Sustitución de Aminoácidos , Hemoglobina J/genética , Policitemia/genética , Polimorfismo de Nucleótido Simple , Adulto , Arginina , ADN/sangre , ADN/genética , ADN/aislamiento & purificación , Cartilla de ADN , Femenino , Variación Genética , Glutamina , Humanos , Italia , Masculino , Fragmentos de Péptidos/aislamiento & purificación , Policitemia/sangre
13.
Ital J Biochem ; 56(4): 310-4, 2007 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-19192633

RESUMEN

Functional proteomics constitutes an emerging research area in the proteomic field focused to two major targets, the elucidation of biological function of unknown proteins and the definition of cellular mechanisms at the molecular level. Understanding protein functions as well as unravelling molecular mechanisms within the cell is then depending on the identification of the interacting protein partners. The association of an unknown protein with partners belonging to a specific protein complex involved in a particular mechanism would in fact be strongly suggestive of its biological function. Furthermore, a detailed description of the cellular signalling pathways might greatly benefit from the elucidation of protein-protein interactions in the cell. Isolation of functional protein complexes essentially rely on affinity-based procedures. The protein of interest and its specific partners can be fished out from the cellular extract by using a suitable ligand as a bait taking advantage of the specific binding properties of the ligand molecule immobilised on agarose-sepharose supports. Alternative strategies essentially relying on immunoprecipitation techniques have been introduced to allow purification of protein complexes formed in vivo within the cell. The gene coding for the bait tagged with an epitope against which good antibodies exist (FLAG, HA, c-myc, etc.), is transfected into the appropriate cell line and expressed in the cognate host. The cell extracts are immunoprecipitated with anti-tag monoclonal antibodies using suitable experimental conditions to avoid dissociation of the complexes. In both cases, protein components specifically recognised by the bait and retained on the agarose beads can then be eluted and fractionated by SDS-PAGE. The protein bands detected on the gel are in situ enzymatically digested and the resulting peptide mixtures analysed by capillary LC-MS/MS techniques leading to the identification of the protein interactors.


Asunto(s)
Proteoma/análisis , Proteómica/métodos , Animales , Cromatografía Liquida , Proteínas de Unión al ADN/análisis , Proteínas de Unión al ADN/metabolismo , Electroforesis en Gel de Poliacrilamida , Humanos , Espectrometría de Masas , Unión Proteica , Proteoma/metabolismo
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