SUMMARY To investigate the inter-rater reliability and validity of the Neurobehavioural Rating Scale at various stages of recovery after hospitalisation for closed head injury, we studied 101 head trauma patients who had no antecedent neuropsychiatric disorder. The results demonstrated satisfactory inter-rater reliability and showed that the Neurobehavioural Rating Scale reflects both the severity and chronicity of closed head injury. A principal components analysis revealed four factors which were differentially related to severity of head injury and the presence of a frontal lobe mass lesion. Although our findings provide support for utilising clinical ratings of behaviour to investigate sequelae of head injury, extension of this technique to other settings is necessary to evaluate the distinctiveness of the neurobehavioural profile of closed head injury as compared with other aetiologies of brain damage.

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Clinical exome sequencing (CES) is increasingly being used as an effective diagnostic tool in the field of pediatric genetics. We sought to evaluate the parental experience, understanding and psychological impact of CES by conducting a survey study of English-speaking parents of children who had diagnostic CES. Parents of 192 unique patients participated. The parent's interpretation of the child's result agreed with the clinician's interpretation in 79% of cases, with more frequent discordance when the clinician's interpretation was uncertain. The majority (79%) reported no regret with the decision to have CES. Most (65%) reported complete satisfaction with the genetic counseling experience, and satisfaction was positively associated with years of genetic counselor (GC) experience. The psychological impact of CES was greatest for parents of children with positive results and for parents with anxiety or depression. The results of this study are important for helping clinicians to prepare families for the possible results and variable psychological impact of CES. The frequency of parental misinterpretation of test results indicates the need for additional clarity in the communication of results. Finally, while the majority of patients were satisfied with their genetic counseling, satisfaction was lower for new GCs, suggesting a need for targeted GC training for genomic testing.

The prevalence of pathogenic APC variants in apparently sporadic HB may be higher than previously detected. Differences in time to imaging response, despite similar AFP response, may impact surgical planning. All patients with HB warrant germline APC mutation testing for underlying FAP.