Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome.

Mowat-Wilson syndrome (MWS) is a rare genetic syndrome characterized by a specific facial gestalt, intellectual deficiency, Hirschsprung disease and multiple congenital anomalies. Heterozygous mutations or deletions in the zinc finger E-box-binding homeobox2 gene (ZEB2) cause MWS. ZEB2 encodes for Smad-interacting protein 1, a transcriptional co-repressor involved in TGF-beta and BMP pathways and is strongly expressed in early stages of development in mice. Eye abnormalities have rarely been described in patients with this syndrome. Herein, we describe four patients (two males and two females; mean age 7 years) with MWS and eye malformations. Ocular anomalies included, iris/retinal colobomas, atrophy or absence of the optic nerve, hyphema, and deep refraction troubles, sometimes with severe visual consequences. All eye malformations were asymmetric and often unilateral and all eye segments were affected, similarly to the nine MWS cases with ophthalmological malformations previously reported (iris/chorioretinal/optic disc coloboma, optic nerve atrophy, retinal epithelium atrophy, cataract, and korectopia). In human embryo, ZEB2 is expressed in lens and neural retina. Using the present report and data from the literature, we set out to determine whether or not the presence of eye manifestations could be due to specific type or location of mutations. We concluded that the presence of eye malformations, although a rare feature in MWS, should be considered as a part of the clinical spectrum of the condition.

[French translation and validation of the Scale to assess Unawareness of Mental Disorder (SUMD) in patients with schizophrenics]. / Traduction et validation française de l'échelle d'évaluation de la conscience des troubles mentaux des patients schizophrènes: the Scale to assess Unawareness of Mental Disorder (SUMD).

BACKGROUND: The Scale to assess Unawareness of Mental Disorder (SUMD) is a semi-structured interview based on a dimensional and quantitative approach of insight. Different forms of insight are assessed: global insight into mental illness, insight into symptoms and insight into symptom aetiology (i.e. attribution). The SUMD divides the recognition of mental disorders into two concepts: awareness of, and attribution for mental disorders. Awareness relates to the subject's ability to recognize that the phenomenon in question is present, whereas attribution refers to explanations as to cause or source of these signs or symptoms. Thus, the scale distinguishes between the recognition of a symptom and its explanation. For example, the scale allows the investigator to distinguish between a patient's ability to recognize visual hallucinations as such (false perceptions), from his/her ability to explain their cause (e.g. due to mental illness or not). OBJECTIVE: The aim of this study was to translate the SUMD (version 3.1 revised) and test its convergent validity among 43 French adult inpatients diagnosed with schizophrenia according to DSM-IV-TR criteria. METHODS: Awareness of mental disorder was assessed using the SUMD and the Hamilton Rating Scale for Depression (HAMD) insight item (item 17) respectively, as done in the original English validation study. The SUMD was translated into French then back-translated into English. The back-translation was performed by both English and French native speakers who had no prior knowledge of the scale (the back translation was reviewed by one of the SUMD's authors, Dr Amador, for accuracy). The SUMD manual (v.2/14/99) was also translated into French. Concerning the SUMD directions followed in this study, the first three SUMD items, which are called general items: G1 "Awareness of mental disorder", G2 "Awareness of the achieved effects of medication" and G3 "Awareness of the social consequences of mental disorder" were systematically rated. However, symptom items (four through 20) are not always relevant for every patient. Indeed, for each symptom-item on the scale, it must first be ascertained that the patient has exhibited the particular symptom during the period under investigation. Therefore, for every patient, the symptom checklist was completed prior to filling out the scale, in order to determine which symptom-items were relevant. In addition, symptom attribution items are rated only if the subject received a score between 1 and 3 on the awareness item. Two periods of time of insight were assessed: "current" insight involved rating the highest level of awareness obtained at the time of the interview for the psychopathology present at anytime during the past 7 days. "Past" insight was defined as the present level of awareness during the period of time preceding the current period of investigation. RESULTS: The French translation of the SUMD achieved good convergent validity with the insight item of the Hamilton rating scale for depression. DISCUSSION: The SUMD has proven to be a reliable and valid instrument to assess insight into schizophrenia. The more psychometrically sound rating tools we have at our disposal, many of which have been published in non French journals, the more we will be able to sharpen our assessment of insight into schizophrenia. We are facing an epistemic paradox in which quantification helps description, i.e. we need to have access to different rating tools to measure insight in order to improve our knowledge of the causes, course and treatment of poor insight into mental disorders.