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1.
Neurobiol Aging ; 84: 70-79, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31518951

RESUMO

Down syndrome (DS) has been considered a unique model for the investigation of Alzheimer's disease (AD) but intermediate stages in the continuum are poorly defined. Considering this, we investigated the neurophysiological (i.e., magnetoencephalography [MEG]) and neuropsychological patterns of mild cognitive impairment (MCI) and AD in middle-aged adults with DS. The sample was composed of four groups: Control-DS (n = 14, mean age 44.64 ± 3.30 years), MCI-DS (n = 14, 51.64 ± 3.95 years), AD-DS (n = 13, 53.54 ± 6.58 years), and Control-no-DS (healthy controls, n = 14, 45.21 ± 4.39 years). DS individuals were studied with neuropsychological tests and MEG, whereas the Control-no-DS group completed only the MEG session. Our results showed that the AD-DS group exhibited a significantly poorer performance as compared with the Control-DS group in all tests. Furthermore, this effect was crucially evident in AD-DS individuals when compared with the MCI-DS group in verbal and working memory abilities. In the neurophysiological domain, the Control-DS group showed a widespread increase of theta activity when compared with the Control-no-DS group. With disease progression, this increased theta was substituted by an augmented delta, accompanied with a reduction of alpha activity. Such spectral pattern-specifically observed in occipital, posterior temporal, cuneus, and precuneus regions-correlated with the performance in cognitive tests. This is the first MEG study in the field incorporating both neuropsychological and neurophysiological information, and demonstrating that this combination of markers is sensitive enough to characterize different stages along the AD continuum in DS.

2.
Actas Esp Psiquiatr ; 47(3): 79-87, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31233206

RESUMO

INTRODUCTION: Compulsions are among the most typical behaviors in Prader-Willi syndrome (PWS). The most frequent causes of PWS are deletion of the genes located in the segment 15q11-q13 of the paternal allele and maternal uniparental disomy of cromosome 15. The aim of the present work was to study compulsive behavior in a sample of adults with PWS and analyze potential differences as a function of the genetic cause/subtype. MATERIAL AND METHODS: In the 27 study participants, existence of type I deletion (n=7), type II deletion (n=13), and maternal disomy (n=7) was determined by means of genetic tests. The Yale-Brown Obsessive Compulsive Scale, the Compulsive Behavior Checklist, and the Repetitive Behavior Questionnaire were used to assess occurrence and severity of compulsions. RESULTS: Most of the participants showed compulsive behavior, the most frequent compulsions were those of inappropriate grooming (skin picking) and order (hoarding). The occurrence of compulsions was less frequent in the maternal disomy group than in the deletion groups. Severe compulsions were more frequent in those participants with type II deletion than in the other groups. CONCLUSIONS: Differences in occurrence and severity of compulsions exist as a function of PWS genetic subtype. Our results support the idea that individuals with maternal disomy are less affected by compulsive behavior. More research on the severity of compulsions as a function of deletion type should be done, as the studies conducted so far have shown contradictory results.


Assuntos
Comportamento Compulsivo/genética , Síndrome de Prader-Willi/genética , Dissomia Uniparental/genética , Adulto , Deleção Cromossômica , Cromossomos Humanos Par 15/genética , Feminino , Humanos , Masculino , Fatores Sexuais , Espanha
3.
Actas esp. psiquiatr ; 47(3): 79-87, mayo-jun. 2019. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-185157

RESUMO

Introducción: Las compulsiones forman parte de las conductas más características del síndrome de Prader-Willi (SPW). Las causas más frecuentes del SPW son la deleción de los genes localizados en el segmento 15q11-q13 del alelo paterno y la disomía uniparental materna del cromosoma 15. El objetivo de este trabajo fue estudiar las conductas compulsivas en una muestra de adultos con SPW y analizar posibles diferencias en función de la causa/subtipo genético. Material y métodos. En los 27 participantes del estudio, la presencia de deleción tipo I (n = 7), deleción tipo II (n = 13), y disomía materna (n = 7) fue determinada mediante pruebas genéticas. La presencia y gravedad de las compulsiones fueron evaluadas mediante los cuestionarios Yale-Brown Ob-sessive Compulsive Scale, Compulsive Behavior Checklist, y Repetitive Behavior Questionnaire. Resultados. La mayoría de los participantes presenta-ba conductas compulsivas, las más frecuentes eran las de cuidado inapropiado (excoriación) y orden (acumulación). La presencia de compulsiones era menor en el grupo con disomía materna que en los grupos de deleción. Las compulsiones graves eran más frecuentes en los participantes con deleción tipo II que en los otros grupos. Conclusiones. Existen diferencias en la presencia y gravedad de compulsiones en función del subtipo genético del SPW. Los resultados apoyan la idea que las personas con disomía materna están menos afectadas por las conductas compulsivas. Hay que seguir investigando sobre la gravedad de las compulsiones en función de los dos tipos de deleción, ya que los hallazgos de los distintos estudios son contradictorios


Introduction: Compulsions are among the most typical behaviors in Prader-Willi syndrome (PWS). The most frequent causes of PWS are deletion of the genes located in the segment 15q11-q13 of the paternal allele and maternal uniparental disomy of cromosome 15. The aim of the present work was to study compulsive behavior in a sample of adults with PWS and analyze potential differences as a function of the genetic cause/subtype. Material and methods. In the 27 study participants, existence of type I deletion (n = 7), type II deletion (n = 13), and maternal disomy (n = 7) was determined by means of genetic tests. The Yale-Brown Obsessive Compulsive Scale, the Compulsive Behavior Checklist, and the Repetitive Behavior Questionnaire were used to assess occurrence and severity of compulsions. Results. Most of the participants showed compulsive behavior, the most frequent compulsions were those of in-appropriate grooming (skin picking) and order (hoarding). The occurrence of compulsions was less frequent in the maternal disomy group than in the deletion groups. Severe compulsions were more frequent in those participants with type II deletion than in the other groups. Conclusions. Differences in occurrence and severity of compulsions exist as a function of PWS genetic subtype. Our results support the idea that individuals with maternal diso-my are less affected by compulsive behavior. More research on the severity of compulsions as a function of deletion type should be done, as the studies conducted so far have shown contradictory results


Assuntos
Humanos , Masculino , Feminino , Adulto , Comportamento Compulsivo/genética , Síndrome de Prader-Willi/genética , Dissomia Uniparental/genética , Deleção Cromossômica , Cromossomos Humanos Par 15/genética , Fatores Sexuais , Espanha
4.
Neuroimage Clin ; 21: 101662, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30639180

RESUMO

OBJECTIVE: To investigate, based on a putative abnormal neural processing of disgusting signals in Prader Willi syndrome (PWS) patients, the brain response to visual representations of disgusting food in PWS using functional MRI (fMRI). METHODS: Twenty-one genetically-confirmed PWS patients, 30 age- and sex-matched and 28 BMI-matched control subjects viewed a movie depicting disgusting food-related scenes interspersed with scenes of appetizing food while fMRI was acquired. Brain activation maps were compared between groups and correlated with disgust and hunger ratings. RESULTS: At the cortical level, the response to disgusting food representations in PWS patients was qualitatively similar to that of control subjects, albeit less extensive, and engaged brain regions typically related to visually-evoked disgust, such as the anterior insula/frontal operculum, the lateral frontal cortex and visual areas. By contrast, activation was almost absent in limbic structures directly concerned with the regulation of instinctive behavior robustly activated in control subjects, such as the hypothalamus, amygdala/hippocampus and periaqueductal gray. CONCLUSIONS: Our study provides novel insights into the neural substrates of appetite control in a genetically-mediated cause of obesity. The presence of significant cortical changes further indicates that PWS patients consciously process disgusting stimuli, but the virtual absence of response in deep, limbic structures suggests that disgusting signals do not adequately reach the primary brain system for the appetite control.


Assuntos
Encéfalo/fisiopatologia , Córtex Cerebral/fisiopatologia , Hipotálamo/fisiopatologia , Síndrome de Prader-Willi/fisiopatologia , Adolescente , Adulto , Mapeamento Encefálico/métodos , Feminino , Humanos , Hipotálamo/patologia , Imagem por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Obesidade/fisiopatologia , Adulto Jovem
5.
Rev. psiquiatr. salud ment. (Barc., Ed. impr.) ; 11(3): 141-150, jul.-sept. 2018. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-176743

RESUMO

Introducción: La escala Health of the Nation Outcome Scales for People with Learning Disabilities (HoNOS-LD) fue creada para evaluar de forma breve el funcionamiento de las personas con trastorno de desarrollo intelectual y problemas de salud mental/trastornos de conducta. El objetivo del presente trabajo fue estudiar las evidencias sobre la validez de las puntuaciones obtenidas con la escala HoNOS-LD traducida al castellano. Material y método: La muestra estaba formada por 111 participantes que fueron evaluados con la HoNOS-LD traducida al castellano y otros cuestionarios relacionados. Para estudiar la fiabilidad entre examinadores y la fiabilidad test-retest, 33 participantes fueron evaluados por 2 examinadores y reevaluados al cabo de 7 días. Resultados: De acuerdo con criterios clínicos y conceptuales, y con el resultado del análisis paralelo, se seleccionó una solución factorial con único factor. La consistencia interna fue buena (coeficiente omega de 0,87). Las fiabilidades entre examinadores y test-retest fueron excelentes (coeficientes de correlación intraclase de 0,95 y 0,98, respectivamente). Las correlaciones entre secciones de la HoNOS-LD y los instrumentos relacionados fueron en el sentido esperado y altamente significativas (p<0,001), y la puntuación HoNOS-LD aumentaba con el nivel de apoyos necesario de los participantes, resultados que aportaron evidencia sobre la validez de asociación con otras variables externas. Conclusiones: La versión en castellano de la HoNOS-LD representa un instrumento breve, válido y fiable, que permitirá la evaluación rutinaria del funcionamiento con distintas finalidades, incluyendo el diagnóstico y la intervención


Introduction: The Health of the Nation Outcome Scales for People with Learning Disabilities (HoNOS-LD) is a brief instrument that assesses functioning in people with intellectual development disorder and mental health problems/behaviour disorders. The aim of the present study was to examine the evidence on the validity of the scores based on the Spanish version of the HoNOS-LD. Material and methods: The study included 111 participants that were assessed by the Spanish version of the HoNOS-LD and other questionnaires that measured different variables related to the scale. Thirty-three participants were assessed by 2 examiners, and retested 7 days later, in order to study inter-examiner reliability and test-retest reliabilities. Results: Based on clinical and conceptual criteria, and on the results of the parallel analysis, a factorial solution with one factor was selected. Internal consistency was good (Omega coefficient of 0.87). Inter-examiner and test-retest reliabilities were excellent (intraclass correlation coefficients of 0.95 and 0.98, respectively). Correlations between sections of the HoNOS-LD and the related instruments showed the expected direction, and were highly significant (P<.001), and the HoNOS-LD score increased with the intensity of the support required by the participants. These results showed evidence of the validity of association with other external variables. Conclusions: The Spanish version of the HoNOS-LD is a brief, valid and reliable instrument, which will enable a routine assessment of functioning for different uses, including diagnosis and intervention


Assuntos
Humanos , Masculino , Feminino , Adulto , Psicometria/instrumentação , Testes Psicológicos/normas , Transtornos de Aprendizagem/diagnóstico , Deficiência Intelectual/diagnóstico , Transtorno da Conduta/diagnóstico , Transtornos Mentais/diagnóstico , Traduções , Reprodutibilidade dos Testes , Reprodutibilidade dos Testes , Diagnóstico Diferencial , Testes Genéticos
6.
Behav Genet ; 48(4): 323-336, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29882083

RESUMO

A genetic analysis of unexplained mild-moderate intellectual disability and co-morbid psychiatric or behavioural disorders is not systematically conducted in adults. A cohort of 100 adult patients affected by both phenotypes were analysed in order to identify the presence of copy number variants (CNVs) responsible for their condition identifying a yield of 12.8% of pathogenic CNVs (19% when including clinically recognizable microdeletion syndromes). Moreover, there is a detailed clinical description of an additional 11% of the patients harbouring possible pathogenic CNVs-including a 7q31 deletion (IMMP2L) in two unrelated patients and duplications in 3q29, 9p24.2p24.1 and 15q14q15.1-providing new evidence of its contribution to the phenotype. This study adds further proof of including chromosomal microarray analysis (CMA) as a mandatory test to improve the diagnosis in the adult patients in psychiatric services.


Assuntos
Variações do Número de Cópias de DNA , Deficiência Intelectual/epidemiologia , Deficiência Intelectual/genética , Transtornos Mentais/epidemiologia , Transtornos Mentais/genética , Adolescente , Adulto , Comorbidade , Feminino , Genótipo , Humanos , Incidência , Deficiência Intelectual/diagnóstico , Masculino , Transtornos Mentais/diagnóstico , Pessoa de Meia-Idade , Análise de Sequência com Séries de Oligonucleotídeos , Fenótipo , Estudos Prospectivos , Espanha , Estatísticas não Paramétricas , Adulto Jovem
7.
Neuroimage Clin ; 18: 160-166, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29868444

RESUMO

Background: We longitudinally assessed Down syndrome individuals at the age of risk of developing dementia to measure changes in brain anatomy and their relationship to cognitive impairment progression. Methods: Forty-two Down syndrome individuals were initially included, of whom 27 (mean age 46.8 years) were evaluable on the basis of completing the 2-year follow-up and success in obtaining good quality MRI exams. Voxel-based morphometry was used to estimate regional brain volumes at baseline and follow-up on 3D anatomical images. Longitudinal volume changes for the group and their relationship with change in general cognitive status and specific cognitive domains were mapped. Results: As a group, significant volume reduction was identified in the substantia innominata region of the basal forebrain, hippocampus, lateral temporal cortex and left arcuate fasciculus. Volume reduction in the substantia innominata and hippocampus was more prominent in individuals whose clinical status changed from cognitively stable to mild cognitive impairment or dementia during the follow-up. Relevantly, longitudinal memory score change was specifically associated with volume change in the hippocampus, prospective memory with prefrontal lobe and verbal comprehension with language-related brain areas. Conclusions: Results are notably concordant with the well-established anatomical changes signaling the progression to dementia in Alzheimer's disease, despite the dense baseline pathology that developmentally accumulates in Down syndrome. This commonality supports the potential value of Down syndrome as a genetic model of Alzheimer's neurodegeneration and may serve to further support the view that Down syndrome patients are best candidates to benefit from treatment research in Alzheimer's disease.


Assuntos
Encéfalo/diagnóstico por imagem , Demência/diagnóstico por imagem , Síndrome de Down/diagnóstico por imagem , Adulto , Envelhecimento , Encéfalo/patologia , Demência/etiologia , Demência/patologia , Progressão da Doença , Síndrome de Down/complicações , Síndrome de Down/patologia , Feminino , Humanos , Estudos Longitudinais , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos
8.
Br J Psychiatry ; 212(5): 287-294, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29693535

RESUMO

BACKGROUND: Copy number variants (CNVs) are established risk factors for neurodevelopmental disorders. To date the study of CNVs in psychiatric illness has focused on single disorder populations. The role of CNVs in individuals with intellectual disabilities and psychiatric comorbidities are less well characterised.AimsTo determine the type and frequency of CNVs in adults with intellectual disabilities and comorbid psychiatric disorders. METHOD: A chromosomal microarray analysis of 599 adults recruited from intellectual disabilities psychiatry services at three European sites. RESULTS: The yield of pathogenic CNVs was high - 13%. Focusing on established neurodevelopmental disorder risk loci we find a significantly higher frequency in individuals with intellectual disabilities and comorbid psychiatric disorder (10%) compared with healthy controls (1.2%, P<0.0001), schizophrenia (3.1%, P<0.0001) and intellectual disability/autism spectrum disorder (6.5%, P < 0.00084) populations. CONCLUSIONS: In the largest sample of adults with intellectual disabilities and comorbid psychiatric disorders to date, we find a high rate of pathogenic CNVs. This has clinical implications for the use of genetic investigations in intellectual disability psychiatry.Declaration of interestNone.


Assuntos
Transtornos Globais do Desenvolvimento Infantil/genética , Variações do Número de Cópias de DNA/genética , Deficiência Intelectual/genética , Transtornos Mentais/genética , Esquizofrenia/genética , Adulto , Transtornos Globais do Desenvolvimento Infantil/epidemiologia , Comorbidade , Europa (Continente)/epidemiologia , Feminino , Humanos , Deficiência Intelectual/epidemiologia , Masculino , Transtornos Mentais/epidemiologia , Análise em Microsséries , Pessoa de Meia-Idade , Esquizofrenia/epidemiologia
9.
Hum Brain Mapp ; 39(1): 369-380, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-29024175

RESUMO

Warning signals indicating that a food is potentially dangerous may evoke a response that is not limited to the feeling of disgust. We investigated the sequence of brain events in response to visual representations of disgusting food using a dynamic image analysis. Functional MRI was acquired in 30 healthy subjects while they were watching a movie showing disgusting food scenes interspersed with the scenes of appetizing food. Imaging analysis included the identification of the global brain response and the generation of frame-by-frame activation maps at the temporal resolution of 2 s. Robust activations were identified in brain structures conventionally associated with the experience of disgust, but our analysis also captured a variety of other brain elements showing distinct temporal evolutions. The earliest events included transient changes in the orbitofrontal cortex and visual areas, followed by a more durable engagement of the periaqueductal gray, a pivotal element in the mediation of responses to threat. A subsequent core phase was characterized by the activation of subcortical and cortical structures directly concerned not only with the emotional dimension of disgust (e.g., amygdala-hippocampus, insula), but also with the regulation of food intake (e.g., hypothalamus). In a later phase, neural excitement extended to broad cortical areas, the thalamus and cerebellum, and finally to the default mode network that signaled the progressive termination of the evoked response. The response to disgusting food representations is not limited to the emotional domain of disgust, and may sequentially involve a variety of broadly distributed brain networks. Hum Brain Mapp 39:369-380, 2018. © 2017 Wiley Periodicals, Inc.


Assuntos
Encéfalo/fisiologia , Percepção de Movimento/fisiologia , Percepção Gustatória/fisiologia , Adulto , Encéfalo/diagnóstico por imagem , Mapeamento Encefálico , Feminino , Humanos , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Filmes Cinematográficos , Fatores de Tempo , Adulto Jovem
10.
Rev Psiquiatr Salud Ment ; 11(3): 141-150, 2018.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-28017467

RESUMO

INTRODUCTION: The Health of the Nation Outcome Scales for People with Learning Disabilities (HoNOS-LD) is a brief instrument that assesses functioning in people with intellectual development disorder and mental health problems/behaviour disorders. The aim of the present study was to examine the evidence on the validity of the scores based on the Spanish version of the HoNOS-LD. MATERIAL AND METHODS: The study included 111 participants that were assessed by the Spanish version of the HoNOS-LD and other questionnaires that measured different variables related to the scale. Thirty-three participants were assessed by 2 examiners, and retested 7 days later, in order to study inter-examiner reliability and test-retest reliabilities. RESULTS: Based on clinical and conceptual criteria, and on the results of the parallel analysis, a factorial solution with one factor was selected. Internal consistency was good (Omega coefficient of 0.87). Inter-examiner and test-retest reliabilities were excellent (intraclass correlation coefficients of 0.95 and 0.98, respectively). Correlations between sections of the HoNOS-LD and the related instruments showed the expected direction, and were highly significant (P<.001), and the HoNOS-LD score increased with the intensity of the support required by the participants. These results showed evidence of the validity of association with other external variables. CONCLUSIONS: The Spanish version of the HoNOS-LD is a brief, valid and reliable instrument, which will enable a routine assessment of functioning for different uses, including diagnosis and intervention.


Assuntos
/diagnóstico , Escalas de Graduação Psiquiátrica , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Variações Dependentes do Observador , Psicometria , Espanha , Traduções , Adulto Jovem
11.
Span J Psychol ; 20: E32, 2017 Jul 20.
Artigo em Inglês | MEDLINE | ID: mdl-28726593

RESUMO

Despite how important it is to assess executive functioning in persons with Intellectual Disability (ID), instruments adapted and validated for this population are scarce. This study's primary goal was to find evidence for the validity of the ID version of the Tower of London (TOLDXtm) test in persons with mild (IDMi) and moderate (IDMo) levels of ID with Down Syndrome (DS). A multicenter study was carried out. Subjects (n = 63, ≥ 39 years old) had DS with mild (n = 39) or moderate ID (n = 24) with no minor neurocognitive disorder or Alzheimer's disease. Assessment protocol: TOLDXtm for ID, Kaufman Brief Intelligence Test Second Edition (K-BIT II), Cambridge Examination for Mental Disorders of Older People with Down's Syndrome and Others with Intellectual Disabilities (CAMDEX-DS), Weigl's Color-Form Sorting Test (WCFST), Barcelona Test for Intellectual Disability (BT-ID), and the Behavior Rating Inventory of Executive Function (BRIEF-P). The internal consistency (IDMi and IDMo), factor structure of the different subscales, and relationship between TOLDXtm subscales and other cognitive measures (BT-ID, WCFST, and BRIEF-P) were analyzed. A normative data table with ID population quartiles is provided. TOLDXtm for ID showed a robust one factor structure and coherentassociations with other, related neuropsychological instruments. Significant differences between IDMi and IDMo on movement-related variables like Correct (Corr; p = .002) and Moves (Mov; p = .042) were observed, along with good internal consistency values, Corr (α = .75), Mov (α = .52). Regarding internal consistency, no between-groups differences were observed (all p-value > 0.05). The TOLDXtm for ID is thus an instrument, supported by good validity evidence, to evaluate problem-solving and planning in ID. It distinguishes between individuals with mild and moderate ID, and is highly associated with other measures of executive functioning.


Assuntos
Função Executiva/fisiologia , Deficiência Intelectual/diagnóstico , Testes Neuropsicológicos/normas , Psicometria/instrumentação , Adulto , Síndrome de Down/diagnóstico , Síndrome de Down/fisiopatologia , Feminino , Humanos , Deficiência Intelectual/fisiopatologia , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes
12.
J Alzheimers Dis ; 57(1): 61-70, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28222523

RESUMO

BACKGROUND: Neural tissue alterations in Down syndrome are fully expressed at relatively late developmental stages. In addition, there is an early presence of neurodegenerative changes in the late life stages. OBJECTIVE: The aims of this study were both to characterize white matter abnormalities in the brain of adult Down syndrome patients using diffusion tensor imaging (DTI) and to investigate whether degenerative alterations in white matter structure are detectable before dementia is clinically evident. METHODS: Forty-five adult non-demented Down syndrome patients showing a wide age range (18-52 years) and a matched 45-subject control group were assessed. DTI fractional anisotropy (FA) brain maps were generated and selected cognitive tests were administered. RESULTS: Compared with healthy controls, non-demented Down syndrome patients showed lower DTI FA in white matter involving the major pathways, but with more severe alterations in the frontal-subcortical circuits. White matter FA decreased with age at a similar rate in both DS and control groups. CONCLUSIONS: Our results contribute to characterizing the expression of white matter structural alterations in adult Down syndrome. However, an accelerated aging effect was not demonstrated, which may suggest that the FA measurements used are not sufficiently sensitive or, alternatively, age-related white matter neurodegeneration is not obvious prior to overt clinical dementia.


Assuntos
Envelhecimento/patologia , Encéfalo/diagnóstico por imagem , Síndrome de Down/diagnóstico por imagem , Substância Branca/diagnóstico por imagem , Adolescente , Adulto , Imagem de Tensor de Difusão , Feminino , Humanos , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Vias Neurais/diagnóstico por imagem , Adulto Jovem
13.
Span. j. psychol ; 20(1): e32.1-e32.14, 2017. tab, ilus, graf
Artigo em Inglês | IBECS | ID: ibc-164986

RESUMO

Despite how important it is to assess executive functioning in persons with Intellectual Disability (ID), instruments adapted and validated for this population are scarce. This study’s primary goal was to find evidence for the validity of the ID version of the Tower of London (TOLDXtm) test in persons with mild (IDMi) and moderate (IDMo) levels of ID with Down Syndrome (DS). A multicenter study was carried out. Subjects (n = 63, ≥ 39 years old) had DS with mild (n = 39) or moderate ID (n = 24) with no minor neurocognitive disorder or Alzheimer’s disease. Assessment protocol: TOLDXtm for ID, Kaufman Brief Intelligence Test Second Edition (K-BIT II), Cambridge Examination for Mental Disorders of Older People with Down’s Syndrome and Others with Intellectual Disabilities (CAMDEX-DS), Weigl’s Color-Form Sorting Test (WCFST), Barcelona Test for Intellectual Disability (BT-ID), and the Behavior Rating Inventory of Executive Function (BRIEF-P). The internal consistency (IDMi and IDMo), factor structure of the different subscales, and relationship between TOLDXtm subscales and other cognitive measures (BT-ID, WCFST, and BRIEF-P) were analyzed. A normative data table with ID population quartiles is provided. TOLDXtm for ID showed a robust one factor structure and coherentassociations with other, related neuropsychological instruments. Significant differences between IDMi and IDMo on movement-related variables like Correct (Corr; p = .002) and Moves (Mov; p = .042) were observed, along with good internal consistency values, Corr (α = .75), Mov (α = .52). Regarding internal consistency, no between-groups differences were observed (all p-value > 0.05). The TOLDXtm for ID is thus an instrument, supported by good validity evidence, to evaluate problemsolving and planning in ID. It distinguishes between individuals with mild and moderate ID, and is highly associated with other measures of executive functioning (AU)


No disponible


Assuntos
Humanos , Masculino , Feminino , Adulto , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/psicologia , Síndrome de Down/diagnóstico , Síndrome de Down/psicologia , Doença de Alzheimer/complicações , Testes de Inteligência , Inventário de Personalidade/normas , Dissonância Cognitiva , Terapia Cognitivo-Comportamental/métodos , Neuropsicologia/métodos
14.
PLoS One ; 11(9): e0163468, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27685845

RESUMO

CONTEXT: Prader-Willi syndrome (PWS) is characterized by severe hyperphagia. Brain-derived neurotrophic factor (BDNF) and leptin are reciprocally involved in energy homeostasis. OBJECTIVES: To analyze the role of BDNF and leptin in satiety in genetic subtypes of PWS. DESIGN: Experimental study. SETTING: University hospital. SUBJECTS: 90 adults: 30 PWS patients; 30 age-sex-BMI-matched obese controls; and 30 age-sex-matched lean controls. INTERVENTIONS: Subjects ingested a liquid meal after fasting ≥10 hours. MAIN OUTCOME MEASURES: Leptin and BDNF levels in plasma extracted before ingestion and 30', 60', and 120' after ingestion. Hunger, measured on a 100-point visual analogue scale before ingestion and 60' and 120' after ingestion. RESULTS: Fasting BDNF levels were lower in PWS than in controls (p = 0.05). Postprandially, PWS patients showed only a truncated early peak in BDNF, and their BDNF levels at 60' and 120' were lower compared with lean controls (p<0.05). Leptin was higher in PWS patients than in controls at all time points (p<0.001). PWS patients were hungrier than controls before and after eating. The probability of being hungry was associated with baseline BDNF levels: every 50-unit increment in BDNF decreased the odds of being hungry by 22% (OR: 0.78, 95%CI: 0.65-0.94). In uniparental disomy, the odds of being hungry decreased by 66% (OR: 0.34, 90%CI: 0.13-0.9). Postprandial leptin patterns did no differ among genetic subtypes. CONCLUSIONS: Low baseline BDNF levels and lack of postprandial peak may contribute to persistent hunger after meals. Uniparental disomy is the genetic subtype of PWS least affected by these factors.

15.
J Psychiatry Neurosci ; 41(4): 261-71, 2016 06.
Artigo em Inglês | MEDLINE | ID: mdl-26645739

RESUMO

BACKGROUND: Prader Willi syndrome is a genetic disorder with a behavioural expression characterized by the presence of obsessive-compulsive phenomena ranging from elaborate obsessive eating behaviour to repetitive skin picking. Obsessive-compulsive disorder (OCD) has been recently associated with abnormal functional coupling between the frontal cortex and basal ganglia. We have tested the potential association of functional connectivity anomalies in basal ganglia circuits with obsessive-compulsive behaviour in patients with Prader Willi syndrome. METHODS: We analyzed resting-state functional MRI in adult patients and healthy controls. Whole-brain functional connectivity maps were generated for the dorsal and ventral aspects of the caudate nucleus and putamen. A selected obsessive-compulsive behaviour assessment included typical OCD compulsions, self picking and obsessive eating behaviour. RESULTS: We included 24 adults with Prader Willi syndrome and 29 controls in our study. Patients with Prader Willi syndrome showed abnormal functional connectivity between the prefrontal cortex and basal ganglia and within subcortical structures that correlated with the presence and severity of obsessive-compulsive behaviours. In addition, abnormally heightened functional connectivity was identified in the primary sensorimotor cortex-putamen loop, which was strongly associated with self picking. Finally, obsessive eating behaviour correlated with abnormal functional connectivity both within the basal ganglia loops and between the striatum and the hypothalamus and the amygdala. LIMITATIONS: Limitations of the study include the difficulty in evaluating the nature of content of obsessions in patients with Prader Willi Syndrome and the risk of excessive head motion artifact on brain imaging. CONCLUSION: Patients with Prader Willi syndrome showed broad functional connectivity anomalies combining prefrontal loop alterations characteristic of OCD with 1) enhanced coupling in the primary sensorimotor loop that correlated with the most impulsive aspects of the behaviour and 2) reduced coupling of the ventral striatum with limbic structures for basic internal homeostasis that correlated with the obsession to eat.


Assuntos
Gânglios da Base/fisiologia , Transtorno Obsessivo-Compulsivo/fisiopatologia , Síndrome de Prader-Willi/psicologia , Adolescente , Adulto , Mapeamento Encefálico , Estudos de Casos e Controles , Núcleo Caudado/fisiologia , Transtornos da Alimentação e da Ingestão de Alimentos/fisiopatologia , Feminino , Lobo Frontal/fisiologia , Humanos , Imagem por Ressonância Magnética , Masculino , Rede Nervosa/fisiologia , Síndrome de Prader-Willi/fisiopatologia , Putamen/fisiologia , Adulto Jovem
16.
Mol Genet Genomic Med ; 2(6): 512-21, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25614873

RESUMO

Deletions in the 2p16.3 region that includes the neurexin (NRXN1) gene are associated with intellectual disability and various psychiatric disorders, in particular, autism and schizophrenia. We present three unrelated patients, two adults and one child, in whom we identified an intragenic 2p16.3 deletion within the NRXN1 gene using an oligonucleotide comparative genomic hybridization array. The three patients presented dual diagnosis that consisted of mild intellectual disability and autism and bipolar disorder. Also, they all shared a dysmorphic phenotype characterized by a long face, deep set eyes, and prominent premaxilla. Genetic analysis of family members showed two inherited deletions. A comprehensive neuropsychological examination of the 2p16.3 deletion carriers revealed the same phenotype, characterized by anxiety disorder, borderline intelligence, and dysexecutive syndrome. The cognitive pattern of dysexecutive syndrome with poor working memory and reduced attention switching, mental flexibility, and verbal fluency was the same than those of the adult probands. We suggest that in addition to intellectual disability and psychiatric disease, NRXN1 deletion is a risk factor for a characteristic cognitive and dysmorphic profile. The new cognitive phenotype found in the 2p16.3 deletion carriers suggests that 2p16.3 deletions might have a wide variable expressivity instead of incomplete penetrance.

17.
Rev Neurol ; 57(8): 337-46, 2013 Oct 16.
Artigo em Espanhol | MEDLINE | ID: mdl-24081888

RESUMO

INTRODUCTION: Dementia caused by Alzheimer's disease commonly affects the adult population with Down's syndrome. This population presents two characteristic clinical features: a semiologic pattern that differs from the typical Alzheimer's disease, and previous intellectual deficits that may confound the clinical diagnosis. There is a clear need to validate specific instruments adapted to Spanish population. AIM: To adapt and to validate CAMDEX-DS (Cambridge Examination for Mental Disorders of Older People with Down's Syndrome and Others with Intellectual Disabilities) in Spanish population. PATIENTS AND METHODS: 146 patients with intellectual disability (mild to moderate) were recruited and assessed with CAMDEX-DS, K-BIT I and DMR tests. Test-retest reliability, inter-rater concordance and validity statistic were performed between CAMDEX-DS and clinical diagnosis. This is an observational, multicenter, cross-sectional and validation study. RESULTS: Test-retest and inter-rater reliability achieved kappa coefficient values of 0.92 and 0.91, respectively. Agreement (kappa index) for CAMDEX-DS on clinical diagnosis compared to other clinical criteria was high: CAMDEX-DS vs DSM-IV (kappa = 0.95; p < 0,001); CAMDEX-DS vs ICD-10 (kappa = 0.97; p < 0.001). All item-test correlations ranged between 0,31 and 0,69. Internal reliability-calculated using Chronbach's alpha scored 0.93. CONCLUSIONS: The Spanish version of CAMDEX-DS is a valid instrument with high applicability for people with intellectual disability. It shows good psychometric properties. The Cambridge Cognitive Examination for Older Adults with Down's Syndrome (CAMCOG-DS) can set two key points by the level of intellectual disability on the suspicion of cognitive impairment in people with Down's syndrome.


Assuntos
Idoso/psicologia , Síndrome de Down/psicologia , Deficiência Intelectual/psicologia , Índice de Gravidade de Doença , Adulto , Estudos Transversais , Feminino , Humanos , Testes de Inteligência , Masculino , Pessoa de Meia-Idade , Variações Dependentes do Observador , Psicometria , Reprodutibilidade dos Testes , Espanha , Inquéritos e Questionários , Tradução
18.
Rev. neurol. (Ed. impr.) ; 57(8): 337-346, 16 oct., 2013. tab
Artigo em Espanhol | IBECS | ID: ibc-116331

RESUMO

síndrome de Down. Esta población presenta dos rasgos clínicos característicos: la presencia de demencia con semiología distinta a la enfermedad de Alzheimer típica y déficits intelectuales previos que pueden confundir el diagnóstico clínico. Existe una evidente necesidad de validar instrumentos específicos en castellano adaptados a esta población. Objetivo. Adaptar y validar el Cambridge Examination for Mental Disorders of Older People with Down’s Syndrome and Others with Intellectual Disabilities (CAMDEX-DS) en población española. Pacientes y métodos. Se consideraron 146 pacientes con discapacidad intelectual (leve-moderada). Se realizó un estudio de validación de tipo observacional, transversal y multicéntrico. Se administraron los siguientes tests: CAMDEX-DS, testbreve de inteligencia de Kaufman y Dementia Questionnaire for Persons with Mental Retardation. Se calculó la fiabilidad test-retest, la fiabilidad interjueces, la concordancia del CAMDEX-DS para el diagnóstico clínico y la validez. Resultados. La fiabilidad test-retest e interjueces obtuvo un coeficiente kappa de 0,92 y 0,91, respectivamente. El índice kappa del CAMDEX-DS para el diagnóstico clínico respecto al resto de los criterios clínicos utilizados fue alto: CAMDEX-DS frente a DSM-IV (kappa = 0,95; p < 0,001); CAMDEX-DS frente a Clasificación Internacional de Enfermedades, décima revisión (kappa = 0,97; p = 0,000). Todas las correlaciones ítem-test oscilaban entre 0,31 y 0,69. La fiabilidad interna calculada mediante el alfa de Cronbach fue de 0,93. Conclusiones. La versión española del CAMDEX-DS es un instrumento válido, de alta aplicabilidad a personas con discapacidad intelectual, que muestra buenas propiedades psicométricas. El Cambridge Cognitive Examination for Older Adults with Down’s Syndrome (CAMCOG-DS) permite establecer dos puntos de corte para la sospecha de deterioro cognitivo en el grupo de personas con síndrome de Down en función del nivel de discapacidad intelectual previo (AU)


Introduction. Dementia caused by Alzheimer’s disease commonly affects the adult population with Down’s syndrome. This population presents two characteristic clinical features: a semiologic pattern that differs from the typical Alzheimer’s disease, and previous intellectual deficits that may confound the clinical diagnosis. There is a clear need to validate specific instruments adapted to Spanish population. Aim. To adapt and to validate CAMDEX-DS (Cambridge Examination for Mental Disorders of Older People with Down’s Syndrome and Others with Intellectual Disabilities) in Spanish population. Patients and methods. 146 patients with intellectual disability (mild to moderate) were recruited and assessed with CAMDEX-DS, K-BIT I and DMR tests. Test-retest reliability, inter-rater concordance and validity statistic were performed between CAMDEX-DS and clinical diagnosis. This is an observational, multicenter, cross-sectional and validation study. Results. Test-retest and inter-rater reliability achieved kappa coefficient values of 0.92 and 0.91, respectively. Agreement (kappa index) for CAMDEX-DS on clinical diagnosis compared to other clinical criteria was high: CAMDEX-DS vs DSM-IV (kappa = 0.95; p < 0,001); CAMDEX-DS vs ICD-10 (kappa = 0.97; p < 0.001). All item-test correlations ranged between 0,31 and 0,69. Internal reliability-calculated using Chronbach’s alpha scored 0.93.Conclusions. The Spanish version of CAMDEX-DS is a valid instrument with high applicability for people with intellectual disability. It shows good psychometric properties. The Cambridge Cognitive Examination for Older Adults with Down’s Syndrome (CAMCOG-DS) can set two key points by the level of intellectual disability on the suspicion of cognitive impairment in people with Down’s syndrome (AU)


Assuntos
Humanos , Síndrome de Down , Testes Neuropsicológicos , Doença de Alzheimer , Psicometria/instrumentação , Pessoas com Deficiência Mental/estatística & dados numéricos , Reprodutibilidade dos Testes
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