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1.
Artigo em Inglês | MEDLINE | ID: mdl-38733333

RESUMO

BACKGROUND: The classification of mental, behavioural and neurodevelopmental disorders in the World Health Organization's International Classification of Diseases 11th revision (ICD-11) includes a comprehensive set of behavioural indicators (BIs) within the neurodevelopmental disorders grouping. BIs can be used to assess the severity of disorders of intellectual development in situations in which standardised measures of intellectual functioning and adaptive behaviours are not available or feasible. This international study examines the implementation characteristics of the BIs and compares them to standardised measures for assessing the severity of intellectual impairment and adaptive behaviours in disorders of intellectual development and autism spectrum disorder (ASD). The clinical utility of the ICD-11 and the fidelity of its application in international clinical settings were also assessed. METHODS: A total of 116 children and adolescents (5-18 years old) with a suspected or established diagnosis of disorders of intellectual development were included across four sites [Italy (n = 18), Sri Lanka (n = 19) and two sites in India (n = 79)]. A principal component analysis was conducted to evaluate the application of the ICD-11 guidance for combining severity levels. RESULTS: Assessment using the BIs showed a higher proportion of individuals classified with mild severity, whereas the standardised measures indicated a higher proportion of severe ratings. Additionally, individuals with co-occurring ASD tended to have more severe impairments compared with those without ASD, as indicated by both BIs and standardised measures. Overall, the BIs were considered clinically useful, although more time and consideration were required when applying the guidelines for individuals with a co-occurring disorder of intellectual development and ASD. The principal component analysis revealed one principal component representing overall disorders of intellectual development severity levels. CONCLUSIONS: The ICD-11 BIs can be implemented as intended in international clinical settings for a broad range of presentations of individuals with neurodevelopmental disorders. Use of the BIs results in similar severity diagnoses to those made using standardised measures. The BIs are expected to improve the reliability of severity assessments in settings where appropriate standardised measures for intellectual and adaptive behaviours are not available or feasible.

2.
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
3.
J Intellect Disabil Res ; 63(5): 386-407, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30628126

RESUMO

BACKGROUND: We present the work conducted to arrive at deriving behavioural indicators that could be used to guide clinical judgement in determining the presence and severity of deficits in intellectual functioning and adaptive behaviour for the purpose of making a diagnosis of disorders of intellectual development. METHODS: An interdisciplinary expert panel provided guidance in developing behavioural indicators for intellectual functioning. A national dataset of adaptive behaviour on a sample of individuals with a diagnosis of intellectual disability was used to develop the behavioural indicators for the adaptive behaviour. The adaptive behaviour data were analysed using a cluster analysis procedure to define the different severity groupings by chronological age groups. RESULTS: We present a series of tables containing behavioural indicators across the lifespan for intellectual functioning and adaptive behaviour, including conceptual, social and practical skills. These tables of behavioural indicators have been proposed for use in the clinical version of the 11th revision of the International Classification of Diseases and Related Health Problems (ICD-11) to be published by the World Health Organization. CONCLUSIONS: The proposed behavioural indicators for disorders of ID described in the present article and to be included in the ICD-11 Clinical Descriptions and Diagnostic Guidelines are put forth to assist professionals in making an informed clinical decision regarding an individual's level of intellectual functioning and adaptive behaviour for the purpose of making a determination about the presence and severity of disorders of ID.


Assuntos
Adaptação Psicológica/fisiologia , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/fisiopatologia , Classificação Internacional de Doenças/normas , Guias de Prática Clínica como Assunto , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
4.
J Intellect Disabil Res ; 53(2): 125-42, 2009 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-19054268

RESUMO

BACKGROUND: Standardised neuropsychological and cognitive measures present some limitations in their applicability and generalisability to individuals with intellectual disability (ID). Alternative approaches to defining the cognitive signatures of various forms of ID are needed to advance our understanding of the profiles of strengths and weaknesses as well as the affected brain areas. AIM: To evaluate the utility and feasibility of six non-verbal comparative neuropsychological (CN) tasks administered in a modified version of the Wisconsin General Test Apparatus (WGTA) to confirm and extend our knowledge of unique cognitive signatures of Fragile X syndrome (FXS) and Down syndrome (DS). METHOD: A test battery of CN tasks adapted from the animal literature was administered in a modified WGTA. Tasks were selected that have established or emerging brain-behaviour relationships in the domains of visual-perceptual, visual-spatial, working memory and inhibition. RESULTS: Despite the fact that these tasks revealed cognitive signatures for the two ID groups, only some hypotheses were supported. Results suggest that whereas individuals with DS were relatively impaired on visual-perceptual and visual-spatial reversal learning tasks they showed strengths in egocentric spatial learning and object discrimination tasks. Individuals with FXS were relatively impaired on object discrimination learning and reversal tasks, which was attributable to side preferences. In contrast, these same individuals exhibited strengths in egocentric spatial learning and reversal tasks as well as on an object recognition memory task. Both ID groups demonstrated relatively poor performance for a visual-spatial working memory task. CONCLUSION: Performance on the modified WGTA tasks differentiated cognitive signatures between two of the most common forms of ID. Results are discussed in the context of the literature on the cognitive and neurobiological features of FXS and DS.


Assuntos
Cognição , Síndrome de Down/diagnóstico , Síndrome do Cromossomo X Frágil/diagnóstico , Testes Neuropsicológicos/estatística & dados numéricos , Adolescente , Adulto , Canadá , Criança , Diagnóstico Diferencial , Discriminação Psicológica , Síndrome de Down/psicologia , Estudos de Viabilidade , Síndrome do Cromossomo X Frágil/psicologia , Humanos , Inibição Psicológica , Masculino , Memória de Curto Prazo , Reconhecimento Psicológico , Reversão de Aprendizagem , Percepção Espacial , Análise e Desempenho de Tarefas , Percepção Visual , Adulto Jovem
5.
Artigo em Inglês | MEDLINE | ID: mdl-30128163

RESUMO

BACKGROUND: Exposure to armed conflict and forced displacement constitute significant risks for mental health. Existing evidence-based psychological interventions have limitations for scaling-up in low-resource humanitarian settings. The WHO has developed a guided self-help intervention, Self Help Plus (SH+), which is brief, implemented by non-specialists, and designed to be delivered to people with and without specific mental disorders. This paper outlines the study protocol for an evaluation of the SH+ intervention in northern Uganda, with South Sudanese refugee women. METHODS: A two-arm, single-blind cluster-randomised controlled trial will be conducted in 14 villages in Rhino Camp refugee settlement, with at least 588 women experiencing psychological distress. Villages will be randomly assigned to receive either SH+ with enhanced usual care (EUC), or EUC alone. SH+ is a five-session guided self-help intervention delivered in workshops with audio-recorded materials and accompanying pictorial guide. The primary outcome is reduction in overall psychological distress over time, with 3 months post-treatment as the primary end-point. Secondary outcomes are self-defined psychosocial concerns, depression and post-traumatic stress disorder symptoms, hazardous alcohol use, feelings of anger, interethnic relations, psychological flexibility, functional impairment and subjective wellbeing. Psychological flexibility is a hypothesised mediator, and past trauma history and intervention attendance will be explored as potential moderators. DISCUSSION: This trial will provide important information on the effectiveness of a scalable, guided self-help intervention for improving psychological health and wellbeing among people affected by adversity. TRIAL REGISTRATION: ISRCTN50148022; registered 13/03/2017.

6.
J Affect Disord ; 190: 663-674, 2016 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-26590514

RESUMO

BACKGROUND: To present the rationale for the new Obsessive-Compulsive and Related Disorders (OCRD) grouping in the Mental and Behavioural Disorders chapter of the Eleventh Revision of the World Health Organization's International Classification of Diseases and Related Health Problems (ICD-11), including the conceptualization and essential features of disorders in this grouping. METHODS: Review of the recommendations of the ICD-11 Working Group on the Classification for OCRD. These sought to maximize clinical utility, global applicability, and scientific validity. RESULTS: The rationale for the grouping is based on common clinical features of included disorders including repetitive unwanted thoughts and associated behaviours, and is supported by emerging evidence from imaging, neurochemical, and genetic studies. The proposed grouping includes obsessive-compulsive disorder, body dysmorphic disorder, hypochondriasis, olfactory reference disorder, and hoarding disorder. Body-focused repetitive behaviour disorders, including trichotillomania and excoriation disorder are also included. Tourette disorder, a neurological disorder in ICD-11, and personality disorder with anankastic features, a personality disorder in ICD-11, are recommended for cross-referencing. LIMITATIONS: Alternative nosological conceptualizations have been described in the literature and have some merit and empirical basis. Further work is needed to determine whether the proposed ICD-11 OCRD grouping and diagnostic guidelines are mostly likely to achieve the goals of maximizing clinical utility and global applicability. CONCLUSION: It is anticipated that creation of an OCRD grouping will contribute to accurate identification and appropriate treatment of affected patients as well as research efforts aimed at improving our understanding of the prevalence, assessment, and management of its constituent disorders.


Assuntos
Transtorno da Personalidade Compulsiva/classificação , Transtorno da Personalidade Compulsiva/diagnóstico , Transtorno Obsessivo-Compulsivo/classificação , Transtorno Obsessivo-Compulsivo/diagnóstico , Transtornos Dismórficos Corporais/classificação , Manual Diagnóstico e Estatístico de Transtornos Mentais , Transtorno de Acumulação/classificação , Humanos , Hipocondríase/classificação , Síndrome de Tourette/classificação , Tricotilomania/classificação , Adulto Jovem
7.
Brain Res Dev Brain Res ; 119(1): 85-95, 2000 Jan 03.
Artigo em Inglês | MEDLINE | ID: mdl-10648875

RESUMO

A monoclonal antibody that recognizes a nonphosphorylated epitope on the medium and high molecular weight subunits of neurofilament (NF) proteins was used to investigate laminar and cell morphology changes in monkey striate cortex during post-natal development. Six cortices were obtained from monkeys of a variety of ages: five from developing animals with ages spanning the critical period and one adult. At post-natal day (PD) 0, immunohistochemistry with the SMI-32 antibody revealed immunoreactive (IR) cells in layer IVB and in infragranular layer VI. Early in the critical period (PD 7), these layers become more defined with an increase in the density of immunopositive cells. At the height of the critical period (PD 30 and 42), a drastic increase in the density of SMI-32 labelled pyramidal neurons in layers V and VI was observed. Similarly, layer IVC showed an abundance of dendritic fragments and dendrites that appeared to originate from the infragranular layers. At the end of the critical period (PD 103), a trend toward morphological maturation for individual neurons found within each layer was observed. During any developmental time point, neurons at first appearance tended to show an immature morphology with staining largely restricted to the cell bodies. As such, the characteristic arborizations common to mature pyramidal and multipolar cells was not evident. We propose that the staining pattern seen in this study is consistent with the idea that layers anatomically associated with the magnocellular (M) pathway develop earlier than their parvocellular (P) counterparts.


Assuntos
Anticorpos Monoclonais/análise , Proteínas de Neurofilamentos/biossíntese , Córtex Visual/metabolismo , Envelhecimento/fisiologia , Animais , Contagem de Células , Chlorocebus aethiops , Corantes , Dendritos/metabolismo , Epitopos/imunologia , Imuno-Histoquímica , Proteínas de Neurofilamentos/imunologia , Neurônios/citologia , Neurônios/metabolismo , Neurópilo/citologia , Neurópilo/metabolismo , Corpos de Nissl/metabolismo , Células Piramidais/citologia , Células Piramidais/metabolismo , Coloração e Rotulagem , Córtex Visual/citologia
8.
Genes Brain Behav ; 9(1): 53-64, 2010 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-19796132

RESUMO

Fragile X syndrome (FXS) is the most prevalent form of heritable mental retardation. It arises from a mutation in the FMR1 gene on the X chromosome that interferes with expression of fragile X mental retardation protein (FMRP) and leads to a wide range of behavioural and cognitive deficits. Previous studies have shown a deficit in basic visual perceptual processing as well as spatial abilities in FXS. How such a deficit may impact spatial navigation remains unknown. The current study extended previous research by evaluating spatial learning and memory using both virtual and physical versions of Hebb-Williams mazes, which allows for testing of humans and animals under comparable conditions. We compared the performance of individuals affected by FXS to typically developing individuals of equivalent mental age as well as the performance of Fmr1 knockout mice to wild-type control mice on the same maze problems. In human participants, performance of the comparison group improved across trials, showing expected significant decreases in both errors and latency. In contrast, the performance of the fragile X group remained at similar levels across trials. Although wild-type control mice made significantly fewer errors than the Fmr1 knockout mice, latencies were not statistically different between the groups. These findings suggest that affected humans and mice show similar spatial learning deficits attributable to the lack of FMRP. The implications of these data are discussed including the notion that Hebb-Williams mazes may represent a useful tool to examine the impact of pharmacological interventions on mitigating or reversing the symptoms associated with FXS.


Assuntos
Proteína do X Frágil da Deficiência Intelectual/genética , Síndrome do Cromossomo X Frágil/psicologia , Deleção de Genes , Aprendizagem em Labirinto , Adulto , Animais , Humanos , Aprendizagem , Masculino , Camundongos , Camundongos Knockout , Tempo de Reação , Percepção Espacial , Adulto Jovem
9.
Neurology ; 63(9): 1634-9, 2004 Nov 09.
Artigo em Inglês | MEDLINE | ID: mdl-15534248

RESUMO

BACKGROUND: Fragile X syndrome (FXS) is associated with neurologic deficits recently attributed to the magnocellular pathway of the lateral geniculate nucleus. OBJECTIVE: To test the hypotheses that FXS individuals 1) have a pervasive visual motion perception impairment affecting neocortical circuits in the parietal lobe and 2) have deficits in integrative neocortical mechanisms necessary for perception of complex stimuli. METHODS: Psychophysical tests of visual motion and form perception defined by either first-order (luminance) or second-order (texture) attributes were used to probe early and later occipito-temporal and occipito-parietal functioning. RESULTS: When compared to developmental- and age-matched controls, FXS individuals displayed severe impairments in first- and second-order motion perception. This deficit was accompanied by near normal perception for first-order form stimuli but not second-order form stimuli. CONCLUSIONS: Impaired visual motion processing for first- and second-order stimuli suggests that both early- and later-level neurologic function of the parietal lobe are affected in Fragile X syndrome (FXS). Furthermore, this deficit likely stems from abnormal input from the magnocellular compartment of the lateral geniculate nucleus. Impaired visual form and motion processing for complex visual stimuli with normal processing for simple (i.e., first-order) form stimuli suggests that FXS individuals have normal early form processing accompanied by a generalized impairment in neurologic mechanisms necessary for integrating all early visual input.


Assuntos
Síndrome do Cromossomo X Frágil/fisiopatologia , Percepção de Movimento , Lobo Parietal/fisiopatologia , Lobo Temporal/fisiopatologia , Adolescente , Adulto , Corpos Geniculados/fisiopatologia , Humanos , Masculino , Lobo Occipital/fisiopatologia , Limiar Sensorial , Vias Visuais , Percepção Visual
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