Ocular involvement in adult and paediatric patients with monogenic autoinflammatory diseases: a Spanish multicentre retrospective study.

OBJECTIVES: Ophthalmologic involvement in monogenic autoinflammatory diseases has been explored mainly in paediatric patients. The aim of this study is to characterise ophthalmologic manifestations, therapeutic management and visual outcomes in a Spanish (UVESAI) cohort of adult/paediatric patients with monogenic autoinflammatory diseases. METHODS: Multicentre and retrospective study of patients with monogenic autoinflammatory diseases and ocular involvement. Eye manifestations, structural complications, treatments used and visual outcomes were analysed, and compared with previous studies. RESULTS: Forty-six patients (44/2 adults/children; 21/25 adult/paediatric-onset) with monogenic autoinflammatory diseases [cryopyrin associated periodic syndromes (n=13/28.3%), mainly Muckle-Wells syndrome (MWS) (n=11/24%); familial Mediterranean fever (FMF) (n=12/26%); TNF receptor-associated periodic syndrome (TRAPS); (n=9/20%); Blau syndrome (n=8/17%); hyperimmunoglobulin D syndrome (HIDS) (n=2/4.3%), deficiency of adenosine deaminase-2 and NLRC4-Autoinflammatory disease] (one each) were included. Conjunctivitis (n=26/56.5%) and uveitis (n=23/50%) were the most frequent ocular manifestations. Twelve (26.1%) patients developed structural complications, being cataracts (n=11/24%) and posterior synechiae (n=10/22%) the most frequent. Conjunctivitis predominated in TRAPS, FMF, MWS and HIDS (mainly in adults), and uveitis, in Blau syndrome. Seven (8%) eyes (all with uveitis) presented with impaired visual acuity. Local and systemic treatment led to good visual outcomes in most patients. Compared with previous studies mainly including paediatric patients, less severe ocular involvement was observed in our adult/paediatric cohort. CONCLUSIONS: Conjunctivitis was the most common ocular manifestation in our TRAPS, FMF, MWS and HIDS patients, and uveitis predominated in Blau syndrome. Severe eye complications and poor visual prognosis were associated with uveitis. Adults with monogenic autoinflammatory diseases seem to exhibit a less severe ophthalmologic presentation than paediatric patients.

Proposal for updating the Health Assessment Questionnaire.

OBJECTIVE: To propose a consensus modification of the HAQ according to the predominant values, language, and culture of the society. METHODS: First, a scoping review of the literature and a survey of HAQ users were conducted to identify the problems of this questionnaire. In a second phase, a meeting was held with expert professionals to discuss the results and design proposals for modification. RESULTS: The scoping review allowed us to describe the main versions of the HAQ, as well as their psychometric properties. The HAQ users survey assessed the degree of comprehension, usefulness, timeliness, and universality of each of the items, and suggestions and opinions on its main limitations were accepted. During the discussion meeting, modifications to the items were proposed based on the results of the scoping review and the users survey. In addition, the difficulty of understanding the items, their difficulty in assessing intended movements, redundancy, obsolescence, and possible gender bias were taken into account. CONCLUSIONS: An update of the Spanish version of the HAQ is proposed based on the literature review and expert opinion that highlights the paradigm shift in cultural values and aims to increase the content validity and discrimination capacity of this questionnaire.

Psychometric study of the Required Care Levels for People with Severe Mental Disorder Assessment Scale (ENAR-TMG). / Estudio psicométrico de la Escala de valoración de los Niveles de Atención Requerida para personas con Trastorno Mental Grave (ENAR-TMG).

INTRODUCTION: People with severe mental disorder have significant difficulties in everyday life that involve the need for continued support. These needs are not easily measurable with the currently available tools. Therefore, a multidimensional scale that assesses the different levels of need for care is proposed, including a study of its psychometric properties. METHOD: One-hundred and thirty-nine patients (58% men) with a severe mental disorder were assessed using the Required Care Levels for People with Severe Mental Disorder Assessment Scale (ENAR-TMG), the Camberwell Assessment of Need scale, and the Health of the Nation Outcome Scales. ENAR-TMG's psychometric features were examined by: a) evaluating 2 sources of validity evidence (evidence based on internal structure and evidence based on relations to other variables), and b) estimating the internal consistency, temporal stability, inter-rater reliability, and sensitivity to change of scores of the ENAR-TMG's subscales. RESULTS: Exploratory factor analyses revealed a one-factor structure for each of the theoretical dimensions of the scale, in which all but one showed a significant and positive correlation with the Camberwell Assessment of Need (range of r: 0.143-0.557) and Health of the Nation Outcome Scales (range of r: 0.241-0.474) scales. ENAR-TMG subscale scores showed acceptable internal consistency (range of ordinal α coefficients: 0.682-0.804), excellent test-retest (range of intraclass correlation coefficients: 0.889-0.999) and inter-rater reliabilities (range of intraclass correlation coefficients: 0.926-0.972), and satisfactory sensitivity to treatment-related changes (range of η2: 0.003-0.103). CONCLUSIONS: The satisfactory psychometric behaviour of the ENAR-TMG makes the scale a promising tool to assess global functioning in people with a severe mental disorder.