Cerebral visual impairment: genetic diagnoses and phenotypic associations.

BACKGROUND: Cerebral visual impairment (CVI) is the most common form of paediatric visual impairment in developed countries. CVI can arise from a host of genetic or acquired causes, but there has been limited research to date on CVI in the context of genetic disorders. METHODS: We carried out a retrospective analysis of genotypic and phenotypic data for participants with CVI within the DECIPHER database and 100 000 Genomes Project (100KGP). RESULTS: 158 individuals with CVI were identified across both cohorts. Within this group, pathogenic or likely pathogenic sequence variants in 173 genes were identified. 25 of these genes already have known associations with CVI, while the remaining 148 are candidate genes for this phenotype. Gene ontology analysis of the CVI gene sets from both DECIPHER and 100KGP suggests that CVI has a similar degree of genetic heterogeneity to other neurodevelopmental phenotypes, and a strong association with genetic variants converging on ion channels and receptor functions. Individuals with a monogenic disorder and CVI have a higher frequency of epilepsies and severe neurodisability than individuals with a monogenic disorder but not CVI. CONCLUSION: This study supports the availability of genetic testing for individuals with CVI alongside other neurodevelopmental difficulties. It also supports the availability of ophthalmological screening for individuals with genetic diagnoses linked to CVI. Further studies could elaborate on the links between specific genetic disorders, visual maturation and broader neurodevelopmental characteristics.

Informing creation of the FEEDS Toolkit to support parent-delivered interventions for eating, drinking and swallowing difficulties in young children with neurodisability: intervention use by neurodevelopmental diagnosis and healthcare professional role.

BACKGROUND: The FEEDS (Focus on Early Eating, Drinking and Swallowing) study focused on interventions used to improve feeding for children with neurodisability and eating, drinking and swallowing difficulties (EDSD), and the outcomes viewed as important by healthcare professionals (HPs) and parent carers. The FEEDS Toolkit was created subsequently as an intervention decision aid to be used collaboratively by parent carers and HPs. This study aimed to inform on current intervention practices and influence toolkit design by ascertaining whether specific intervention use varied by a child's main diagnosis and by specific HP role. METHODS: FEEDS survey data were grouped by child's main diagnosis and HP role. Main diagnoses included autism spectrum disorder (ASD) n=183; Down syndrome (DS) n=69; cerebral palsy (CP) n=30). HPs included were speech and language therapists (SLT) n=131; occupational therapists (OT) n=63; physiotherapists (PT) n=57; paediatricians n=50; dieticians n=40; nurses n=32 and health visitors n=14. RESULTS: Most interventions were used commonly across diagnoses. However, some interventions were used more commonly with specific conditions, for example, positioning (CP 85%, DS 70%, ASD 23%, strategies/programmes aimed at changing behaviour at mealtimes (ASD 52%, CP 8%, DS 11%); visual supports (ASD 58%, CP 0%, DS 21%). HPs reported using a broad range of interventions, SLTs (mean=13.9), dieticians (12.3), OTs (12.7) and paediatricians (11.1). There was overlap between intervention use and HP role, for example, positioning (100% PT, 97% SLT, 94% OT, 73% paediatricians and 69% nurses). CONCLUSIONS: Interdisciplinary working is common when managing EDSD, with all HP types using multiple interventions. A child's main diagnosis does not substantially influence intervention use, and the individual context of each child requires consideration in intervention selection. Study findings have supported development of the FEEDS Toolkit for use in feeding services.