PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics.

PURPOSE: To provide a detailed electroclinical description and expand the phenotype of PIGT-CDG, to perform genotype-phenotype correlation, and to investigate the onset and severity of the epilepsy associated with the different genetic subtypes of this rare disorder. Furthermore, to use computer-assisted facial gestalt analysis in PIGT-CDG and to the compare findings with other glycosylphosphatidylinositol (GPI) anchor deficiencies. METHODS: We evaluated 13 children from eight unrelated families with homozygous or compound heterozygous pathogenic variants in PIGT. RESULTS: All patients had hypotonia, severe developmental delay, and epilepsy. Epilepsy onset ranged from first day of life to two years of age. Severity of the seizure disorder varied from treatable seizures to severe neonatal onset epileptic encephalopathies. The facial gestalt of patients resembled that of previously published PIGT patients as they were closest to the center of the PIGT cluster in the clinical face phenotype space and were distinguishable from other gene-specific phenotypes. CONCLUSION: We expand our knowledge of PIGT. Our cases reaffirm that the use of genetic testing is essential for diagnosis in this group of disorders. Finally, we show that computer-assisted facial gestalt analysis accurately assigned PIGT cases to the multiple congenital anomalies-hypotonia-seizures syndrome phenotypic series advocating the additional use of next-generation phenotyping technology.

Language barriers and use of interpreters in two Danish paediatric emergency units.

INTRODUCTION: Paediatric consultations require safe and unambiguous communication. For children and adolescents of foreign ethnic and language backgrounds, professional interpretation may be crucial to avoid misunderstandings and malpractice. Knowledge about language barriers in paediatric consultations in the Danish healthcare is sparse. METHODS: The study was based on questionnaires completed by medical professionals at two paediatric emergency units in Copenhagen from March through June 2018. Questionnaire A, completed by doctors, addressed all patients aged 0-18 years regardless of the parents' first language and, if foreign, the presence of language barriers, whether clinical management was affected and use of professional interpretation. All doctors and nurses were asked to complete questionnaire B addressing their knowledge, experiences and practices with language barriers in their clinical work. RESULTS: Language barriers were present in 37% of 136 non-native-Danish consultations. In 44% of these, clinical management was affected. Professional interpretation was not used in any consultations. Almost half of the medical professionals reported insufficient communication opportunities with non-native-Danish-speaking patients (48%). CONCLUSIONS: Language barriers frequently affected communication and clinical decision-making in the two Danish paediatric emergency units studied. Even so, professional interpretation was not used. Further studies are needed to explore whether language is a barrier to equal health. FUNDING: none. TRIAL REGISTRATION: not relevant.