Search results for "SPECTRUM DISORDER"
showing 10 items of 272 documents
Essential of audiology: screening and postscreening
2014
Newborn hearing screening is a type of screening testfor the early detection of hearing loss. It can recognizewith good accuracy newborns affected by hearingimpairment allowing an early diagnosis and interventionand avoiding cognitive and linguistic deficits [1-6].The incidence of bilateral sensorineural hearing loss(SNHL) in Sicily is 2.35 cases per 1000 newborns; thisvalue increases to 2.95 if we consider also unilateral SNHL[2,3] and to 10 cases per 1000 births among infants at risk[7-9].A correct newborn hearing screening programme isbased on different protocols depending on the presence/absence of audiologic risk factors:† Newborns without risk factors: [1-3]Initial Hearing Screening (…
Tryptophan immunoadsorption during pregnancy and breastfeeding in patients with acute relapse of multiple sclerosis and neuromyelitis optica.
2017
Background: Up to every fourth woman with multiple sclerosis (MS) or neuromyelitis optica spectrum disorder (NMOSD) suffers a clinically relevant relapse during pregnancy. High doses of steroids bear some serious risks, especially within the first trimester of pregnancy. Immunoadsorption (IA) is an effective and more selective treatment option in disabling MS relapse than plasma exchange. Data on the use of IA during pregnancy and breastfeeding are scarce. Methods: In this retrospective multicenter study, we analyzed the safety and efficacy of IA treatment in acute relapses during pregnancy or breastfeeding. The primary outcome parameter - change of acute relapse-related disability after IA…
First Case Report of Primary Carnitine Deficiency Manifested as Intellectual Disability and Autism Spectrum Disorder
2019
Systemic primary carnitine deficiency (PCD) is a genetic disorder caused by decreased or absent organic cation transporter type 2 (OCTN2) carnitine transporter activity, resulting in low serum carnitine levels and decreased carnitine accumulation inside cells. In early life, PCD is usually diagnosed as a metabolic decompensation, presenting as hypoketotic hypoglycemia, Reye syndrome, or sudden infant death; in childhood, PCD presents with skeletal or cardiac myopathy. However, the clinical presentation of PCD characterized by autism spectrum disorder (ASD) with intellectual disability (ID) has seldom been reported in the literature. In this report, we describe the clinical features of a sev…
FUNCIONES EJECUTIVAS Y MOTIVACIÓN DE NIÑOS CON TRASTORNO DE ESPECTRO AUTISTA (TEA) Y TRASTORNO POR DÉFICIT DE ATENCIÓN CON HIPERACTIVIDAD (TDAH)
2016
Resumen Objetivos. Comparar el perfil de niños con trastorno del espectro autista (TEA) y niños con trastorno por déficit de atención con hiperactividad (TDAH), presentación combinada, en componentes del funcionamiento ejecutivo (FE) y en comportamientos que están asociados al aprendizaje. Método. Participaron en esta investigación 16 niños con un diagnóstico clínico de TDAH y 16 niños con un diagnóstico clínico de TEA con alto nivel de funcionamiento que habían sido diagnosticados en servicios de Neuropediatría de la Comunidad Valenciana. Las edades estaban comprendidas entre 7 y 11 años. El 94% eran varones y se encontraban escolarizados en aulas ordinarias, estando equiparados los dos …
Urinaryp-cresol is elevated in young French children with autism spectrum disorder: a replication study
2014
The aromatic compound p-cresol (4-methylphenol) has been found elevated in the urines of Italian autistic children up to 8 years of age. The present study aims at replicating these initial findings in an ethnically distinct sample and at extending them by measuring also the three components of urinary p-cresol, namely p-cresylsulfate, p-cresylglucuronate and free p-cresol. Total urinary p-cresol, p-cresylsulfate and p-cresylglucuronate were significantly elevated in 33 French autism spectrum disorder (ASD) cases compared with 33 sex- and age-matched controls (p < 0.05). This increase was limited to ASD children aged ≤8 years (p < 0.01), and not older (p = 0.17). Urinary levels of p-cresol a…
The impact of gender and age at onset on the familial aggregation of schizophrenia.
1993
Some recent family studies have shown that the familial risk for schizophrenia is higher in female than in male schizophrenics. It is debated whether the risks for the other disorders, such as schizotypal personality disorder or affective disorders in families of schizophrenics are similarly influenced by the proband's gender. Also, the reason for the effect of proband's gender on the recurrence risk for schizophrenia has not been clarified. This family study (159 probands, 589 first degree relatives) confirms that schizophrenia, but also schizophrenia spectrum disorders were more frequent in families of female compared with male schizophrenics. Neither age at onset in probands nor the inte…
Aberrant probabilistic reinforcement learning in first-degree relatives of individuals with bipolar disorder
2020
Contains fulltext : 215845.pdf (Publisher’s version ) (Closed access) Background: Motivational dysregulation represents a core vulnerability factor for bipolar disorder. Whether this also comprises aberrant learning of stimulus-reinforcer contingencies is less clear. Methods: To answer this question, we compared healthy first-degree relatives of individuals with bipolar disorder (n = 42) known to convey an increased risk of developing a bipolar spectrum disorder and healthy individuals (n = 97). Further, we investigated the effects of the behavioral activation system (BAS) on reinforcement learning across the entire sample. All participants were assessed with a probabilistic learning task t…
A guide to indicators for the evaluation of specialist autism centres, based on the quality-of-life model
2017
Objective: The evaluation of individual and organizational quality of life through the Guide to Quality-of-Life Indicators and its promotion in English-speaking areas. This guide was initially designed for people living with Autism Spectrum Disorder in specialist autism centers in Spanish and Italian-speaking areas where its effectiveness has been validated. Method: The Delphi technique is applied to the design of a qualitative investigation, with expert validation for the adaptation to English-speaking areas. Results: The results have facilitated the adaptation and validation of the tool, which has 68 indicators grouped into six areas, for its application in both the planning and the evalu…
Training adults and children with an autism spectrum disorder to be compliant with a clinical dental assessment using a TEACCH-based approach
2014
The specific neuropsychological and sensory profile found in persons with autism spectrum disorders complicate dental procedures and as a result of this, most are treated under general anesthesia or unnecessary sedation. The main goal of the present study was to evaluate the effectiveness of a short treatment and education of autistic and related communication-handicapped children-based intervention program (five sessions) to facilitate a 10-component oral assessment in children (n = 38, aged 4¿9 years) and adults (n = 34, aged 19¿41) with autism spectrum disorder (with or without associated intellectual disability). The assessment ranges from entering into the examination room to the evalu…
Childhood trauma and substance use underlying psychosis: a systematic review
2020
[EN] Background: Schizophrenia spectrum disorders (SSD) are mental diseases caused by a combination of genetic susceptibility and a number of environmental factors. Among these factors, the role of traumatic events suffered in childhood, as well as that of substance use, have been of particular research interest. Objectives: To conduct a systematic review to clarify whether there is an interaction between childhood trauma and substance use related to the diagnosis or symptoms of SSD. It was also the objective of this review to collate the associations that may exist between the three variables of the study (trauma, substance use and psychosis). Methods: We conducted a systematic search resu…