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1.
J Intellect Disabil Res ; 66(4): 376-391, 2022 04.
Artigo em Inglês | MEDLINE | ID: mdl-35170825

RESUMO

BACKGROUND: The World Health Organization (WHO) has approved the 11th Revision of the International Classification of Diseases (ICD-11). A version of the ICD-11 for Mental, Behavioural and Neurodevelopmental Disorders for use in clinical settings, called the Clinical Descriptions and Diagnostic Requirements (CDDR), has also been developed. The CDDR includes behavioural indicators (BIs) for assessing the severity of disorders of intellectual development (DID) as part of the section on neurodevelopmental disorders. Reliable and valid diagnostic assessment measures are needed to improve identification and treatment of individuals with DID. Although appropriately normed, standardised intellectual and adaptive behaviour assessments are considered the optimal assessment approach in this area, they are unavailable in many parts of the world. This field study tested the BIs internationally to assess the inter-rater reliability, concurrent validity, and clinical utility of the BIs for the assessment of DID. METHODS: This international study recruited a total of 206 children and adolescents (5-18 years old) with a suspected or established diagnosis of DID from four sites across three countries [Sri-Lanka (n = 57), Italy (n = 60) and two sites in India (n = 89)]. Two clinicians assessed each participant using the BIs with one conducting the clinical interview and the other observing. Diagnostic formulations using the BIs and clinical utility ratings were collected and entered independently after each assessment. At a follow-up appointment, standardised measures (Leiter-3, Vineland Adaptive Behaviour Scales-II) were used to assess intellectual and adaptive abilities. RESULTS: The BIs had excellent inter-rater reliability (intra-class correlations ranging from 0.91 to 0.97) and good to excellent concurrent validity (intra-class correlations ranging from 0.66 to 0.82) across sites. Compared to standardised measures, the BIs had more diagnostic overlap between intellectual and adaptive functioning. The BIs were rated as quick and easy to use and applicable across severities; clear and understandable with adequate to too much level of detail and specificity to describe DID; and useful for treatment selection, prognosis assessments, communication with other health care professionals, and education efforts. CONCLUSION: The inclusion of newly developed BIs within the CDDR for ICD-11 Neurodevelopmental Disorders must be supported by information on their reliability, validity, and clinical utility prior to their widespread adoption for international use. BIs were found to have excellent inter-rater reliability, good to excellent concurrent validity, and good clinical utility. This supports use of the BIs within the ICD-11 CDDR to assist with the accurate identification of individuals with DID, particularly in settings where specialised services are unavailable.


Assuntos
Classificação Internacional de Doenças , Transtornos do Neurodesenvolvimento , Adaptação Psicológica , Adolescente , Criança , Pré-Escolar , Humanos , Itália , Reprodutibilidade dos Testes
2.
Am J Med Genet B Neuropsychiatr Genet ; 147B(6): 807-13, 2008 Sep 05.
Artigo em Inglês | MEDLINE | ID: mdl-18393381

RESUMO

The gastrin-releasing peptide receptor (GRPR) was implicated for the first time in the pathogenesis of Autism spectrum disorders (ASD) by Ishikawa-Brush et al. [Ishikawa-Brush et al. (1997): Hum Mol Genet 6: 1241-1250]. Since this original observation, only one association study [Marui et al. (2004): Brain Dev 26: 5-7] has further investigated, though unsuccessfully, the involvement of the GRPR gene in ASD. With the aim of contributing further information to this topic we have sequenced the entire coding region and the intron/exon junctions of the GRPR gene in 149 Italian autistic patients. The results of this study led to the identification of four novel point mutations, two of which, that is, C6S and L181F, involve amino acid changes identified in two patients with ASD and Rett syndrome, respectively. Both the leucine at position 181 and the cysteine at position 6 are strongly conserved in vertebrates. C6S and L181F mutant proteins were expressed in COS-7 and BALB/3T3 cells, but they did not affect either GRP's binding affinity or its potency for stimulating phospholipase C-mediated production of inositol 1,4,5-trisphosphate. In summary, our results do not provide support for a major role of the GRPR gene in ASD in the population of patients we have studied. However, there is a potential role of C6S and L181F mutations on GRPR function, and possibly in the pathogenesis of the autistic disorders in the two patients.


Assuntos
Transtorno Autístico/genética , Receptores da Bombesina/genética , Adolescente , Adulto , Idoso , Animais , Células 3T3 BALB , Células COS , Estudos de Casos e Controles , Criança , Chlorocebus aethiops , Análise Mutacional de DNA , Feminino , Humanos , Itália , Masculino , Camundongos , Pessoa de Meia-Idade , Linhagem , Mutação Puntual/fisiologia
3.
Medicina (B Aires) ; 59(6): 747-52, 1999.
Artigo em Espanhol | MEDLINE | ID: mdl-10752220

RESUMO

Weanling rats from the inbred lines alpha and beta were fed with a soybean-cereal mixture used for human consumption (AN). A group fed with laboratory rat chow was used as reference (AC). Growth and other nutritional parameters as well as intestinal morphohystometry were evaluated from 22 to 44 days of age. Growth rate and final weight were greater with AC in both lines of rats. The greater initial food conversion efficiency of AN diet, compared to AC, decreased rapidly with the progression of age, particularly in the beta strain. Nitrogen (N) and lipid fecal contents were significantly larger for AN in both lines. Apparent nitrogen digestibility, expressed as the difference between N intake and fecal N with respect to N intake was AC < AN (p < 0.01) for line alpha and AC > AN (p < 0.01) for line beta. The weight and the mucosal total width of the small intestine were AC > AN in both lines. AN produced a significant decrease of villi goblet cells in both strains (p < 0.005). Cecum weight was AC > AN (p < 0.01) for the beta strain. These results alert about uncontrolled consumption of soybean products without adequate inhibition of antinutritional factors, a potential risk for growing animal populations.


Assuntos
Proteínas Alimentares/farmacologia , Crescimento/efeitos dos fármacos , Intestinos/efeitos dos fármacos , Proteínas de Soja/farmacologia , Animais , Dieta , Digestão/fisiologia , Feminino , Manipulação de Alimentos/normas , Mucosa Intestinal/metabolismo , Masculino , Valor Nutritivo , Pâncreas/anatomia & histologia , Ratos , Desmame
4.
Arch Latinoam Nutr ; 51(3): 284-7, 2001 Sep.
Artigo em Espanhol | MEDLINE | ID: mdl-11791481

RESUMO

The evaluation of residual ureasic activity in soy products is usually employed as an indicator of the efficiency of the inhibition treatments. The purpose of this study is to compare the AACC method (22-90), based on differences of pH, with an assay where ureasic activity is measured by its hydrolytic action on urea and quantification of the ammonium produced with Berthelot reaction. Twenty different samples of soy bean flour with and without thermal inactivation treatments were assessed with the two methods. The new method has a good correlation with that of the AACC--r = 0.9416 (p < 0.0001). It also presents a better specificity because it measures the concentration of the reaction product and shows a more amplified answer than the increase of pH.


Assuntos
Farinha , Glycine max/enzimologia , Urease/metabolismo , Hidrólise , Métodos , Compostos de Amônio Quaternário/análise , Sensibilidade e Especificidade , Ureia/metabolismo , Urease/análise
5.
Arch Latinoam Nutr ; 45(3): 187-92, 1995 Sep.
Artigo em Espanhol | MEDLINE | ID: mdl-9382678

RESUMO

Legume seeds and fibre rich plant foods usually improve aspects of human diabetes control as they are potential sources of "delayed release" carbohydrates. A regional bakery mixture of soybean and cereals, interesting for its palatability and high content in non starch polysaccharides was chemically and nutritionally evaluated. Comparisons were made with the usual commercial laboratory chow and with a cafeteria mixture. Each one of the three diets was offered ad libitum to adult rats of line IIMb/Fm beta (beta), affected by obesity, hypertriglyceridemia and glucose intolerance or diabetes. Treatments lasted three months and were performed on two groups of male rats: (a) From 100 days old growing significantly. (b) From 200 days old. Meals had similar carbohydrate and calorie contents but acid followed by enzymatica hydrolysis was required to free monosaccharides from the soybean mixture. Cafeteria mixture lacked in fibre, was rich in saturated fats and sodium, and it caused hyperphagia. Each group of rats showed similar food intakes in both ages although weight gain was significantly higher in the younger animals. In the latter, values of glycemic response showed no difference between diets. Cafeteria mixture caused significant hyperglycemia to the elder rats, while the soybean bakery mixture produced a remarkably lower glycemic response; in one case it was even lower than the one produced by the commercial chow. Differential response showed more clearly with age. The results of the feces analysis demonstrated an increased proportion of fecal water for the bakery mixture group, probably due to the amount of undigestible fibre, inducing beneficial effects on large bowel functionality.


Assuntos
Diabetes Mellitus/prevenção & controle , Grão Comestível/metabolismo , Glycine max/metabolismo , Necessidades Nutricionais , Adulto , Fatores Etários , Animais , Diabetes Mellitus/dietoterapia , Diabetes Mellitus Experimental/dietoterapia , Modelos Animais de Doenças , Humanos , Masculino , Ratos
7.
J Intellect Disabil Res ; 46(Pt 4): 318-27, 2002 May.
Artigo em Inglês | MEDLINE | ID: mdl-12000583

RESUMO

BACKGROUND: Two educational treatments were compared, the Treatment and Education of Autistic and Communication Handicapped Children (TEACCH) programme and the integration programme for individuals with disabilities. METHODS: Two groups of eight subjects were matched by gender, chronological and mental age, and nosographic diagnosis (i.e. autism associated with severe intellectual disability, DSM-IV criteria and Childhood Autism Rating Scale scored. The TEACCH programme was applied to the experimental group, while the control group was integrated in regular schools with a support teacher. The Psycho-Educational Profile-Revised and the Vineland Adaptive Behaviour Scale were administered twice with a one-year interval between assessments. RESULTS: The scores of the experimental group increased more than the control group scores. Statistically significant differences were obtained in both groups because of the differences in the two approaches.


Assuntos
Transtorno Autístico/terapia , Transtornos da Comunicação/terapia , Educação Inclusiva/métodos , Logro , Adolescente , Transtorno Autístico/psicologia , Criança , Feminino , Humanos , Itália , Masculino , Pais , Escalas de Graduação Psiquiátrica
8.
Arch. latinoam. nutr ; 51(3): 284-287, sep. 2001.
Artigo em Espanhol | LILACS | ID: lil-333626

RESUMO

The evaluation of residual ureasic activity in soy products is usually employed as an indicator of the efficiency of the inhibition treatments. The purpose of this study is to compare the AACC method (22-90), based on differences of pH, with an assay where ureasic activity is measured by its hydrolytic action on urea and quantification of the ammonium produced with Berthelot reaction. Twenty different samples of soy bean flour with and without thermal inactivation treatments were assessed with the two methods. The new method has a good correlation with that of the AACC--r = 0.9416 (p < 0.0001). It also presents a better specificity because it measures the concentration of the reaction product and shows a more amplified answer than the increase of pH.


Assuntos
Glycine max/enzimologia , Farinha , Urease , Compostos de Amônio/análise , Hidrólise , Métodos , Sensibilidade e Especificidade , Ureia , Urease
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