Conceptualization of the latent structure of autism: further evidence and discussion of dimensional and hybrid models.

Autism spectrum disorder (ASD) might be conceptualized as an essentially dimensional, categorical, or hybrid model. Yet, current empirical studies are inconclusive and the latent structure of ASD has explicitly been examined only in a few studies. The aim of our study was to identify and discuss the latent model structure of behavioral symptoms related to ASD and to address the question of whether categories and/or dimensions best represent ASD symptoms.

Systemic and Ophthalmic Manifestations in Different Types of Refractive Errors in Patients with Down Syndrome.

This study aims to investigate the prevalence of systemic and ophthalmic manifestations in different refractive groups in children and young adults with Down syndrome (DS). : The study was a population-based, cross-sectional study that included 141 Caucasian children and young adults with DS. They were classified into the following three groups: myopia DS group (37 subjects, mean age 15.

Dynamics of serum concentrations of antibodies to infliximab: a new approach for predicting secondary loss of response in inflammatory bowel diseases.

Background: Antibodies to infliximab (ATI) in serum are associated with secondary loss of response (LOR) to infliximab (IFX) therapy in patients with inflammatory bowel disease (IBD). However, feasible ATI-related predictors of therapy success are lacking and knowledge about individual ATI dynamics is limited. Therefore, this study analyzed whether ATI dynamics are able to predict LOR to IFX therapy and compared their predictive power with known predictors of LOR to IFX.

Differentiation of autism spectrum disorder and mood or anxiety disorder.

Symptoms of mood and anxiety disorders overlap with symptoms of autism spectrum disorder, making the diagnostic process challenging. This study found that a combination of communicational deficits and unusual and/or inappropriate social overtures facilitates differentiation between autism spectrum disorder and mood and anxiety disorders. Furthermore, the results confirm the essential need of a behavioral observation with the Autism Diagnostic Observation Schedule in combination with a full Autism Diagnostic Interview-Revised to support diagnostic decisions.

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.

An International Clinical Study of Ability and Disability in Autism Spectrum Disorder Using the WHO-ICF Framework.

This is the fourth international preparatory study designed to develop International Classification of Functioning, Disability and Health (ICF, and Children and Youth version, ICF-CY) Core Sets for Autism Spectrum Disorder (ASD). Examine functioning of individuals diagnosed with ASD as documented by the ICF-CY in a variety of clinical settings. A cross-sectional study was conducted, involving 11 units from 10 countries.

[Diagnostic accuracy of the ADOS-2 taking account of gender effects].

Objectives: The Autism Diagnostic Observation Schedule, Second Edition (ADOS-2) is a revision of the standardized assessment for individuals with suspected autism spectrum disorders (ASD). The study examines the diagnostic accuracy of the original and revised algorithms for Modules 1 through 3.

Methods: In a large clinical sample of children and adolescents (N = 1080, age 1.

The Relation between Reading Skills and Eye Movement Patterns in Adolescent Readers: Evidence from a Regular Orthography.

Over the past decades, the relation between reading skills and eye movement behavior has been well documented in English-speaking cohorts. As English and German differ substantially with regard to orthographic complexity (i.e.

Women underrepresented on editorial boards of 60 major medical journals.

Background: Although there has been a continuous increase in the number of women working in the field of medicine, women rarely reach the highest academic positions as full professors or editorial board members.

Objective: We aimed to determine the proportion of women on the editorial boards of top-ranked medical journals in different medical specialties.

Methods: We analyzed the gender of editorial board members of 60 top-ranked journals of 12 Thomson Reuters Web of Knowledge Journal Citation Reports categories.

Biomechanical analysis of x-pattern exotropia.

Purpose: To simulate and check the plausibility of the proposed mechanisms of X-pattern exotropia and to determine the least invasive surgical method that can be used to treat the disorder.

Design: Computational supported analysis and retrospective study.

Methods: The oculomotor model SEE++ was used to simulate the effects of the different causes that have been proposed for the X-phenomenon.

The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus.

Periodic alternating nystagmus consists of involuntary oscillations of the eyes with cyclical changes of nystagmus direction. It can occur during infancy (e.g.

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.

[Sudden visual loss in a 7-year old patient].

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.

Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7.

Idiopathic infantile nystagmus (IIN) consists of involuntary oscillations of the eyes. The familial form is most commonly X-linked. We recently found mutations in a novel gene FRMD7 (Xq26.

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.

Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.

Idiopathic congenital nystagmus is characterized by involuntary, periodic, predominantly horizontal oscillations of both eyes. We identified 22 mutations in FRMD7 in 26 families with X-linked idiopathic congenital nystagmus. Screening of 42 singleton cases of idiopathic congenital nystagmus (28 male, 14 females) yielded three mutations (7%).

Polytetrafluoroethylene (Goretex) for muscle elongation in the surgical treatment of strabismus with restricted motility.

Purpose: Repeated strabismus surgery as well as eye muscle fibrosis in various forms of strabismus, can be followed by restriction of the motility of the eye. Tendon elongation may be necessary if further improvement of the deviation and duction of the eye muscle is to be achieved. We used polytetrafluoroethylene (Goretex) and looked at its user comfort, compatibility and dose-rate relationship.

[Dose-effect relation in revision surgery for consecutive strabismus divergens in adults].

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.

[Medical aspects of the squint operation as day surgery - a contribution to quality control].

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.