EPHA4 Genetic Variant in a Patient with Epilepsy, Ophthalmological Anomalies, and Neurodevelopmental Delay.

We present the findings of a Whole Exome Sequencing in a 2-year-old boy, conceived via In Vitro Fertilization with donor sperm, who suffers from an undiagnosed neurological syndrome. The following heterozygous variant in the EPHA4 gene was identified and classified as likely pathogenic: c.1655_1656, p.(Ser552CysfsTer23). Subsequent segregation analysis showed that the variant was not inherited from the mother and the sperm donor is not accessible for genetic testing. The presented results can further expand upon the genetic variants considered when diagnosing complex neurological syndromes and shows the importance of access to biological samples from donor banks in genetically ambiguous cases.

Relation of anxiety and other psychometric measures, balance deficits, impaired quality of life, and perceived state of health to dizziness handicap inventory scores for patients with dizziness.

BACKGROUND: An important question influencing therapy for dizziness is whether the strengths of the relationships of emotional and functional aspects of dizziness to 1) anxiety and other mental states, 2) perceived state of health (SoH) and quality of life (QoL) are different in patients with and without normal balance control. We attempted to answer this question by examining these dimensions' regression strengths with Dizziness Handicap Inventory (DHI) scores. METHODS: We divided 40 patients receiving group cognitive behavioural therapy (CBT) and vestibular rehabilitation for dizziness, into 2 groups: dizziness only (DO) and normal balance control; dizziness and a quantified balance deficit (QBD). Group-wise, we first performed stepwise multivariate regression analysis relating total DHI scores with Brief Symptom Inventory (BSI) sub-scores obtained pre- and post-therapy. Then, regression analysis was expanded to include SoH, QoL, and balance scores. Finally, we performed regressions with DHI sub-scores. RESULTS: In both groups, the BSI phobic anxiety state score was selected first in the multivariate regression analysis. In the DO group, obsessiveness/compulsiveness was also selected. The correlation coefficient, R, was 0.74 and 0.55 for the DO and QBD groups, respectively. When QoL and SoH scores were included, R values increased to 0.86 and 0.74, explaining in total 74, and 55% of the DHI variance for DO and QBD groups, respectively. Correlations with balance scores were not significant (R ≤ 0.21). The psychometric scores selected showed the strongest correlations with emotional DHI sub-scores, and perceived QoL and SoH scores with functional DHI sub-scores. CONCLUSIONS: Our findings suggest that reducing phobic anxiety and obsessiveness/compulsiveness during CBT may improve emotional aspects of dizziness and targeting perceived SoH and QoL may improve functional aspects of dizziness for those with and without normal balance control.

Effects of a program of cognitive-behavioural group therapy, vestibular rehabilitation, and psychoeducational explanations on patients with dizziness and no quantified balance deficit, compared to patients with dizziness and a quantified balance deficit.

BACKGROUND: We examined whether a program combining cognitive-behavioural therapy (CBT), vestibular rehabilitation (VR) and psychoeducation is equally effective in improving psychometric measures in patients with dizziness independent of a balance deficit. Measures of patients with dizziness only (DO) were compared to those of patients also having a quantified balance deficit (QBD). METHODS: 32 patients (23 female, 9 male) with persistent dizziness were analysed as 2 groups based on stance and gait balance control: those with QBD (pathological balance) or DO (normal balance). Dizziness Handicap Inventory (DHI) and Brief Symptom Inventory (BSI) questionnaires were used pre- and post-therapy to assess psychometric measures. Patients then received the same combination therapy in a group setting. RESULTS: The QBD group mean age was 60.6, SD 8.3, and DO group mean age 44.8, SD 12.1, years. Pre-therapy, questionnaire scores were pathological but not different between groups. Balance improved significantly for the QBD group (p=0.003) but not for the DO group. DHI and BSI scores improved significantly in the DO group (0.001

Mental body transformation deficits in patients with chronic balance disorders.

BACKGROUND: Movements may be generated consistent with imagining one's own body transformed or "disembodied" to a new position. Based on this concept we hypothesized that patients with objective balance deficits (obj-BD) would have altered neural transformation processes executing own body transformation (OBT) with functional consequences on balance control. Also we examined whether feeling unstable due to dizziness only (DO), without an obj-BD, also lead to an impaired OBT. METHODS: 32 patients with chronic dizziness were tested: 16 patients with obj-BD as determined by balance control during a sequence of stance and gait tasks, 16 patients with dizziness only (DO). Patients and 9 healthy controls (HCs) were asked to replicate roll trunk movements of an instructor in a life size video: first, with spontaneously copied (SPO) or "embodied" egocentric movements (lean when the instructor leans); second, with "disembodied" or "transformed" movements (OBT) with exact replication - lean left when the instructor leans left. Onset latency of trunk roll, rise time to peak roll angle (interval), roll velocity, and amplitude were measured. RESULTS: SPO movements were always mirror-imaged. OBT task latencies were significantly longer and intervals shorter than for SPO tasks (p < 0.03) for all groups. Obj-BD but not DO patients had more errors for the OBT task and, compared to HCs, had longer onset latencies (p < 0.05) and smaller velocities (p < 0.003) and amplitudes (p < 0.001) in both the SPO and OBT tasks. Measures of DO patients were not significantly different from those of HCs. CONCLUSIONS: Mental transformation (OBT) and SPO copying abilities are impaired in subjects with obj-BD and dizziness, but not with dizziness only. We conclude that processing the neuropsychological representation of the human body (body schema) slows when balance control is deficient.

[If the provision of information runs into the language barrier--about the cooperation with interpreters]. / Wenn die Vermittlung von Informationen auf eine Sprach-Barriere trifft--zur Zusammenarbeit mit Ubersetzern.

Communication between professionals and patients from different cultural origin and without knowledge of the professional's language is not possible without the help of interpreters. Their presences however, can have a differential impact upon the quality of the interaction. Non-professional translators (family members, members of hospital staff etc.) can have a negative impact upon medical treatment via false translation, most commonly by the failure to add "creative elements" from their own interpretation to what has been said. As a consequence, using professional interpreters is generally preferred. It has been shown that professional translation improves the quality of treatment and patients' satisfaction with treatment. The proper professionalisation of interpretation is a rather recent development in health care, differentiating between various roles that an interpreter might take. The prominent role of a cultural translator often referred to as "mediation" assumes that the interpreter "mediates" between two different cultures that collide during an encounter. In our experience with Turkish speaking interpreters however, their socio-demographic characteristics (foremost education and social class in Turkey) resemble those of professionals much closer than that of Turkish patients; this the interpreter's position is not in the middle between patient and health care provider but skewed to the latter. Using concrete clinical situations we will recommend a word-by-word translation largely neglecting the role of the cultural mediator.