Diagnostic accuracy of the ADOS and ADOS-2 in clinical practice.

The Autism Diagnostic Observation Schedule is a semi-structured, standardized assessment tool for individuals with suspected autism spectrum disorders (ASD) and is deemed to be part of the gold standard for diagnostic evaluation. Good diagnostic accuracy and interpersonal objectivity have been demonstrated for the ADOS in research setting. The question arises whether this is also true for daily clinical practice and whether diagnostic accuracy depends on specialized experience in the diagnostic evaluation. The present study explores the diagnostic accuracy of the original and the revised version of the ADOS for Modules 1 through 4. Thus, seven cases of ADOS executions were recorded and coded by a group of experts of specialized outpatient clinics for ASD. In an extensive consensus process, including video analysis of every minute of the ADOS executions, a "gold standard" coding for every case was defined. The videos of the ADOS administration were presented to a large group of clinicians (from daily clinical routine care) and their codings (n = 189) were obtained and analysed. Variance of coding and congruence with the expert coding were determined. High variance was found in the codings. The accuracy of the coding depends on the experience of the coder with the ADOS as well as on characteristics of the cases and the quality of the administration of the ADOS. Specialization in the diagnostic of ASD has to be claimed. Specialized outpatient clinics for ASD are required which guarantee a qualified diagnostic/differential diagnostic and case management with the aim of demand-oriented supply of individual cases.

Predictive diagnosis of the cancer prone Li-Fraumeni syndrome by accident: new challenges through whole genome array testing.

BACKGROUND: Li-Fraumeni syndrome greatly increases the risk of developing several types of cancer and is usually caused by TP53 germline mutations. Predictive testing of at-risk family members is only offered after a complex genetic counselling process. Recently the clinical implementation of array comparative genomic hybridisation (CGH) has revolutionised the diagnosis of patients with syndromic or non-syndromic mental retardation and has evolved to a routinely performed high resolution whole genome scan. METHODS AND RESULTS: When using array CGH to identify the cause for mental retardation in a 7-year-old child we found a submicroscopic de novo deletion of chromosome 17p13.1, which includes several genes likely to be causative for her phenotype, and also of TP53. CONCLUSION: Thus, array CGH resulted in an unintended predictive diagnosis of an increased tumour susceptibility as observed in Li-Fraumeni syndrome.

Repeated mobility testing for later artificial visual function evaluation.

The study investigates the utility of a newly designed mobility test for repeated testing of visual function in patients with severe visual impairment and future application in evaluating functional progress in patients with artificial vision. Ten subjects divided into three groups based on visual acuity (VA) ranging from light perception to 20/200 and reduced visual field (VF) were included in the study. The mobility test consisted of using a set of four different but structurally similar and relatively short mazes having a constant number of obstacles of various sizes. The subjects, divided into three groups by acuity, passed through each course several times. In general, the patients with better VA had a larger extent of VF. Average speed and number of contacts were recorded as measures of performance. The average passing times of the groups through the courses were significantly different (p = 0.03), which was influenced by VA and VF. There was no significant difference in average number of contacts between the groups (p = 0.15). The mobility test proved to be appropriate for gaining statistically relevant results in repeated individual testing of patients with severe vision impairment. Results show promise for use this mobility test as a tool for assessing visual function of patients undergoing implantation of a visual prosthesis for artificial vision.

[Dose-effect relation in revision surgery for consecutive strabismus divergens in adults]. / Dosis-Wirkungs-Beziehung bei Revisionsoperation des konsekutiven Strabismus divergens im Erwachsenenalter.

BACKGROUND: The aim of this study was to establish a dose-effect relationship between the reduction of the angle of deviation and the millimeters of the reoperation performed in patients with consecutive exotropia. PATIENTS AND METHODS: A total of 46 patients who had undergone reoperation for consecutive exotropia (group 1: advancement of the former recessed medial rectus muscle and group 2: additional rececession of the lateral rectus muscle) were reexamined. RESULTS: The dose-effect relationship was 2 degrees /mm in group 1 and1.6 degrees /mm far distance and 1.8 degrees /mm near in group 2. Within the first 4 months after the reoperation we found an exodrift of up to 6 degrees , which remained stable; 98% of our patients reported that their quality of life had improved. CONCLUSION: In cases of consecutive exotropia we consider the postoperative exdodrift in the planing of our reoperation. During the ensuing years patients can expect stability of the results achieved by the reoperation.

Reduction of the dose to the lens in prophylactic cranial irradiation: a comparison of three different treatment techniques and two different beam qualities.

Three treatment techniques using two beam qualities have been compared on the basis of dose to the lens in prophylactic cranial irradiation. The dose to the lens and the globe was measured with thermoluminescent crystals in an anthropomorphic phantom and calculated by a computer-assisted planning system. A comparison was made of large field and small field techniques using 60Co and 8 MV photons. Modifications to the basic techniques studied included angulation of the gantry, angulation of the couch, and placement of an additional eye block close to the surface. The dose to the lens could be reduced to four percent of the midplane dose by applying the small-field technique combined with the use of 8 MV energy photons, by placing an additional block close to the surface, and by five degree occipitally angling the gantry, as well as rotating the treatment couch to account for the divergence of the beam. The use of 60Co produced an underdosage of the posterior segment of the globe in angled treatment techniques.

[Vitreoretinal changes in siblings of two patients with Stickler syndrome. Study of two families]. / Vitreoretinale Veränderungen bei den Geschwistern 2er Patienten mit Stickler-Syndrom. Untersuchung 2er Familien.

In 1965 Stickler described a pedigree combining ocular, facial, palatal and skeletal changes. The ocular findings comprise vitreoretinal changes, tears, retinal detachment, myopia and subcapsular cataract. We investigated eight siblings in two families with Stickler syndrome, two of them with a retinal detachment. In two members we observed subcapsular cataract, in four members an optically empty vitreous containing sparse transvitreal strands and sheets of condensed vitreous behind the lens; in the eyes of four emmetropic members with normal visual function large oral bays and large dental processes were found which extended much more posterior to the equator with localized depigmentation, erosions and small tears in the affected area. Similar changes could be observed in the second eye of one patient with a retinal detachment due to a giant tear. The changes of the peripheral retinal pigment epithelium in addition to the affected vitreoretinal base and vitreoretinal adhesions are responsible for the development of erosions, small tears, or even giant tears. Minimal changes as observed in the second eye of our patients with retinal detachment, or in the fundus of other family members, seem to be precursors of retinal detachment. Changes in the second eye of retinal detachment or in the retina of "unaffected" family members without retinal detachment or other associated symptoms of Stickler syndrome should be evaluated regularly and, if necessary, treated by laser, cryotherapy or even an encircling procedure.

[Motility disorders in brachytherapy of choroid melanomas with Ru106 applicators]. / Motilitätsstörungen bei der Brachytherapie von Aderhautmelanomen mit Ru106-Applikatoren.

Accurate visualization of the tumor base by diaphanoscopy is essential for optimal placement of a ruthenium plaque. Depending on the localization of the tumor, dissection of one or more of the rectus muscles is necessary during placement of the plaque or during the course of protracted irradiation. Orthoptic investigations were performed to evaluate the cause of motility disorders and to follow up the functional outcome. In 13 patients (out of 30) who underwent ruthenium-106 therapy for uveal melanomas, one or more muscles had to be dissected during placement of the plaque and were reinserted in the same operation or after removal of the applicator. In 4 cases rectus muscles had to be shifted and were replaced after the irradiation. There were 5 patients who developed motility disorders with double vision. All of them were orthophoric within 6 months without surgery.

[Diplopia after encircling procedure for retinal detachment]. / Bleibende Doppelbilder nach Cerclageoperationen bei Amotio retinae.

PURPOSE: Our aim was to evaluate the frequency, duration and therapy of diplopia in primary position caused by motility disorders after retinal detachments treated only with encircling bands. METHODS: A retrospective review is made of 264 consecutive patients. RESULTS: At 6 months after surgery,18 (7%) out of the 264 patients had motility disorders with diplopia in primary position. In 55%, we found an esotropia and vertical deviation. For the treatment of diplopia, eight patients had prisms foils, five of whom are scheduled for surgery, six patients wear prism glasses and three patients did not return for follow up after their sight had been corrected with prisms. An operation for strabism was necessary in three cases, mainly because of hypertrophic scarring (adhesion syndrome), rather than suturing material or muscular decompensation. One patient needed eye occlusion for untreatable diplopia. The average change of refraction after the encircling procedure was -2.0 D. CONCLUSIONS: We recommend avoiding unnecessary preparation of the muscles when placing the encircling band (without destruction of the Tenon or periorbital tissue), motility exercises after the operation and full refractive correction for sensory compensation of deviations as early as possible. In addition, antiphlogistic drugs should be used to avoid scarring and treatment with prism lenses. Removal of the encircling band does not seem to improve the motility as the disorder is mainly caused by hypertrophic scarring, neither does mitomycin C or the application of viscoelastic substances.

[Octreotide scintigraphy for the diagnosis of active Graves' ophthalmopathy]. / Oktreotidszintigraphie zur Diagnose der aktiven endokrinen Orbitopathie.

PURPOSE: In this study the diagnostic accuracy of orbital octreotide uptake in patients with presumed active Grave's ophthalmopathy (GO) was evaluated. PATIENTS AND METHODS: A prospective study of 23 patients suffering from GO was carried out. Single photon emission computed tomography (SPECT) images were obtained 4 h after iv injection of 3 mCi 111 indium octreotide. The results were correlated with the patients clinical state during a follow-up of 17.5+/-6 months. RESULTS: Octreotide scintigraphy was positive in 15 and negative in 8 cases, 12 patients with positive octreotide scintigraphy underwent immunosuppressive treatment and showed a clinically positive response with regression of symptoms. In three cases the patients refused immunosuppressive treatment. Patients with negative pathologic orbital octreotide uptake did not undergo any treatment. CONCLUSION: Octreotide scintigraphy is a useful tool to determine the activity state of Graves' ophthalmopathy. Since Graves' ophthalmopathy must be treated in the active phase, octreotide scintigraphy should be performed in subacute cases to facilitate the indications for immunosuppressive treatment.

[Sudden visual loss in a 7-year old patient]. / Plötzlicher Visusverlust eines 7-jährigen Patienten. Diagnose: Intrakranielles Riesenaneurysma.

A 7-year-old boy presented to us with a sudden bilateral decrease in visual acuity. At the age of 4 months bilateral congenital glaucoma had been diagnosed and trabeculotomy performed. Eye pressure and fundus were monitored regularly. Both magnetic resonance imaging and computed tomography revealed a giant supraclinoid aneurysm originating in the right internal carotid artery. After comprehensive examinations endovascular balloon occlusion of the internal carotid artery was performed in conjunction with extracranial-intracranial bypass to augment the insufficient circulation.

Normalisation of asymmetric astigmatism after intralesional steroid injection for upper eye lid hemangioma in childhood.

Infantile hemangiomas affect about 5% (3%-8%) of the population, showing a predilection for the face. After a phase of rapid enlargement between the 3rd and the 9th month of life, 70% regress by the age of six after a period of stability. 43%-60% of the children with eye lid hemangiomas develop strabismic, anisometropic, or deprivation amblyopia. Previous studies found the majority of cases resulting from anisometropia (especially asymmetric astigmatism) rather than strabism or occlusion of the visual axis. Several methods of treatment--surgical excision, irradiation, sclerosing agents, systemic steroids, ligation, cryotherapy--have been used but all with a risk of local or systemic complications. Local injections of steroids are a simple method of therapy with a high rate of resolution of hemangiomas, but still with a high degree of bad visual output because of persistent astigmatism. In four children with asymmetric astigmatism (axis of astigmatism towards the hemangioma) in which the injection was given at the beginning of the phase of enlargement, amblyopia could be avoided by preventing corneal steepening from becoming permanent.

[Endocrine orbitopathy--eye muscule surgery]. / Endokrine Orbitopathie--Augenmuskeloperationen.

Extraocular muscles show a typical involvement in Graves' disease, thus inducing a characteristic pattern of motility disorders and diplopia. Therapy of choice of fibrotic changed muscles is the operation, usually performed by recessions under local or even topical anesthesia.

[Endocrine orbitopathy--diagnosis]. / Endokrine Orbitopathie--Diagnostik.

Various modifications of classic Werner classification for endocrine orbitopathy are used. The application of this NOSPECS-scheme on the ocular and periocular changes in Graves' disease is discussed.

[A case of retinopathia oxalogenica and cytomegalic infection]. / Ein Fall von Retinopathia oxalogenica und Cytomegalie-Infektion.

A case of primary oxalosis Type I with characteristic intraocular calcium-oxalate deposition is reported. Both affected eyes show typical pathologic manifestations, which are intensified by a cytomegalic infection caused by cortisone therapy.

[Low-Vision Training For Better Usage of Magnifying Visual Aids]. / Sehbehindertentraining zur besseren Nutzung vergrössernder Sehhilfen.

During 1990-1991 263 low-vision aids were prescribed to visually impaired elderly people. 22% of them did not use their magnifying systems. With the help of a low-vision trainer, who taught them how to use their magnifying system correctly, the failure rate could be remarkably reduced. In 1992, low-vision aids were prescribed to 121 of 158 patients; 110 of these patients had low-vision training. Only 3% of them failed to use the magnifying system.

[Medical aspects of the squint operation as day surgery - a contribution to quality control]. / Medizinische Aspekte der Schieloperation als tageschirurgischer Eingriff - ein Beitrag zum Qualitätsmanagement.

BACKGROUND: The strained situation in the financing of our health system makes it necessary that we reassess therapeutic procedures and their management. Since the squinting operation is mainly performed in the form of day surgery in the English-language area, we followed this example and treated 112 patients in this way. Afterwards we examined their acceptance in cooperation with the Department for Interdisciplinary Quality Management. PATIENTS AND METHOD: 112 patients in whom a squinting operation had been performed in the form of day surgery, received a comprehensive questionnaire with 24 questions, which had been compiled together with the Institute for Psychology, the Institut for Social Medicine and the University Clinic for anaesthesiology. RESULTS: There was a very high acceptance and a positive feedback so that for 3 years now we reserve one day per week for squinting operations in the form of day surgical performance.

[Functional reduction of vision symptomatic of a conversion reaction in paediatric population]. / Funktionelle Sehstörung als Konversionssymptom im Kindes- und Jugendalter.

BACKGROUND: First case reports of psychogenic visual disorders date back into the 19th century. Nowadays we speak of functional visual disorders of somatoform origin, a conversion reaction in which neurotic conflicts are solved on somatic level. This is the initial kind of reduction of agitation specially in children. In contrary to malingering and aggravation conversion symptoms are unconscious actions. Besides the problems of numerous specific tests for differential diagnosis between organic and functional disturbances strategies for further management are necessary. PATIENTS AND METHODS: 26 patients at the age of 8 - 17 years with isolated reduction of vision due to conversion reaction were analyzed referring to sex, age, wether one or both eyes were affected, the duration of symptoms, the possible reasons for the conversion reaction and the further management. RESULTS: 75 % of our patients were females, the average was 12 years old, in 50 % we found a bilateral involvement. The main reasons for the conversion reaction were in 30 % interfamiliar problems, in 25 % school problems, 2 cases (4 %) occurred after mild head trauma and in 41 % no reason was found. Treatment consisted in discussions and suggestive therapy - "eyeglasses" and/or "eyedrops" parents were not primarily informed the diagnosis. One to three months later the tests were repeated. 90 % were without symptoms, 10 % needed psychotherapy. CONCLUSION: Apart from comprehensive neuroophthalmologic and orthoptic examination it is important to observe the patient for possible doctor shopping, symptom shift and the rare development of depression.