Search results for " Disability"
showing 10 items of 673 documents
Diagnostic therapeutic flow-charts for low-back pain patient : the Italian clinical guidelines
2006
Accesible co-creation tools for people with intellectual disabilities: working for and with end-users
2019
In a world defined by rapid change, the search for solutions to societal challenges has become more complex calling for new paradigms of innovation focused on collaborations with the community and users. Co-creation approaches in the design and production of a service or product can bring low-cost innovation and unique and personalized customer experiences leading to user acceptance of a product or service. Under a co-creation perspective, the participatory approach developed in the MINDInclusion project aims to improve the inclusion of people with intellectual disabilities into public places and society by using a co-created online tool based on people with disabilities’ personal experienc…
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
2021
AbstractPurposeHeterozygous variants in BCL11A underlie an intellectual developmental disorder with persistence of fetal hemoglobin (BCL11A-IDD, a.k.a. Dias-Logan syndrome). We sought to delineate the genotypic and phenotypic spectrum of BCL11A-IDD.MethodsWe performed an in-depth analysis of 42 patients with BCL11A-IDD ascertained through a collaborative network of clinical and research colleagues. We also reviewed 33 additional affected individuals previously reported in the literature or available through public repositories with clinical information.ResultsMolecular and clinical data analysis of 75 patients with BCL11A-IDD identified 60 unique variants (30 frameshift, 7 missense, 6 splic…
Intervención psicológica en natación adaptada desde la perspectiva del coaching motivacional
2016
Este artículo presenta la intervención psicológica realizada con una mujer deportista de 19 años que presenta una discapacidad física y cuyo objetivo principal es el de acabar una travesía a nado en mar abierto. Para ayudarla en el logro de su meta, se realizan siete sesiones con una frecuencia de una vez a la semana tomando como punto de partida el modelo de coaching motivacional “La Jirafa de Cantón”, donde el psicólogo genera un entorno facilitador para que el cliente descubra y encuentre sus propias soluciones. En cuanto a la evaluación de su eficacia, se utiliza un diseño test-retest con los siguientes instrumentos: “Escala de Autoestima” de Rosenberg (1965), “Escala de Bienestar Psico…
Care for People with Disabilities in Italy: A Critical Analysis of Act 112/2016 on Assistance for People with Serious Disabilities Lacking Family Sup…
2019
The paper focuses on the issue of care assistance for people with disabilities in Italy, examining the recent Act n. 112 adopted by the Italian Parliament in June 2016 and entitled “Measures in the field of assistance for people with serious disabilities lacking family support” (Disposizioni in materia di assistenza in favore delle persone con disabilità grave prive del sostegno familiare). In particular, I explore whether and how this legislative intervention effectively meets the needs of people with disabilities, especially with regard to their right to live independently and be included in the community as provided by Article 19 of the 2006 UN Convention on the Rights of Persons with Di…
Langer-Giedion syndrome with interstitial 8q-deletion.
1982
We describe a 12-year-old girl with Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II) who also had vertebral malformations. Chromosome analysis identified an interstitial del(8q): 46,XX,del(8)(pter leads to q22::q234 leads to qter) as a cause of this syndrome.
Centre d'Educació Especial Auxilia. Un model d'atenció acadèmica domiciliària
2011
This article describes a pioneering experience in education - Auxilia Centre for Special Education. This centre provides continuity for the education of children affected by physical disabilities, chronic illness or psychiatric illness and who, because of their illness, are forced to stay at home for certain periods without being able to assume standardized travel to the school at which they are enrolled. The Centre gives them personal and individualized academic service at home to enable their development.
Valtti-ohjelma lisäsi erityistä tukea tarvitsevien lasten ja nuorten fyysistä aktiivisuutta ja liikunnan harrastamista
2017
Erityistä tukea tarvitsevien lasten ja nuorten fyysinen aktiivisuus on vähäisempää kuin vammattomilla lapsilla ja nuorilla. Tämän tutkimuksen tarkoituksena oli selvittää Valtti-ohjelman vaikutuksia 6–23-vuotiaiden erityislasten ja -nuorten fyysiseen aktiivisuuteen ja liikunnan harrastamiseen. Kaikkiaan 367 erityislasta ja -nuorta ympäri Suomea hakivat mukaan Valtti-ohjelmaan ja heistä 155 (68 % poikia, ikä ka 12.2 vuotta) osallistuivat tähän tutkimukseen. Tutkimukseen osallistuvat lapset ja nuoret saivat oman Valtti-henkilön, joka auttoi heitä etsimään soveltuvia harrastusmahdollisuuksia, teki harrastekokeilusuunnitelman sekä tuki ja kannusti harrastekokeilujen aikana. Valtti-ohjelma on Suo…
El despido de los trabajadores enfermos "con procesos de larga duración": cambio jurisprudencial a raíz de la doctrina Daouidí
2020
12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature.
2022
Interstitial deletions of the long arm of chromosome 12 are rare, with a dozen patients carrying a deletion in 12q21 being reported. Recently a critical region (CR) has been delimited and could be responsible for the more commonly described clinical features, such as developmental delay/intellectual disability, congenital genitourinary and brain malformations. Other, less frequent, clinical signs do not seem to be correlated to the proposed CR. We present seven new patients harboring non-recurrent deletions ranging from 1 to 18.5 Mb differentially scattered across 12q21. Alongside more common clinical signs, some patients have rarer features such as heart defects, hearing loss, hypotonia an…