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%). We found restricted expression of FRMD7 in human embryonic brain and developing neural retina, suggesting a specific role in the control of eye movement and gaze stability

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

Idiopathic congenital nystagmus (ICN) is characterised 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 ICN singleton cases (28 male, 14 females) yielded three mutations (7%). We found restricted expression of FRMD7 in human embryonic brain and developing neural retina suggesting a specific role in the control of eye movement and gaze stability

Investigating preferences for support with life after stroke: a discrete choice experiment

Background There is little evidence of service user preferences to guide the commissioning and improvement of services that support life after stroke. We report the first investigation of patients’ and family carers’ preferences for community services after stroke using a discrete choice experiment (DCE). Methods Two workshops with patients and family carers (n = 8) explored stroke experiences, identifying attributes important in shaping views about service design, and piloted data collection strategies. Attributes were group versus individual support; service provider; additional support for social and leisure activities; and the total time required to access services. Patients and family carers were recruited six months post stroke-onset (mean 331 days) from four stroke services, and invited to participate in the DCE. Patients’ general health (EQ5D) and functional dependence (Barthel Index) were also assessed. Of 474 eligible patients, 144 (30%) expressed an interest in the study, and 80 (56%) of these completed the survey questionnaire. 34 of 74 (46%) family carers recruited through patients completed the DCE. Results All four attributes were significant in shaping patients preferences for stroke support service delivery (p < 0.05), confirming the interpretation of workshop findings. Patients prefer help and support for emotional needs, communication problems and physical difficulties to be provided on an individual basis; and to be offered additional social and leisure activities that they are able to attend on their own. Patients would appear to prefer that voluntary organisations do not provide these services, although this may be linked to lack of experience of these services. Family carers would prefer help and support in their caring role on a one-to-one basis. Whilst health related quality of life is associated with preference for format of service, results were relatively consistent across sub-groups, with the exception of time since stroke, where social and leisure activities had a greater impact on preferences of established service users. Conclusions The data provide unique insights into how preferences for community services that support life after stroke are shaped. This information can be used to inform both service re-design, and barriers to implementation that will need to be accounted for in policy shifts towards a more mixed economy of service provision