Insights from European Reference Network for rare neurological disorders study surveys on diagnosis, treatment, and management of NKX2-1-related disorders
Por:
Nou-Fontanet L, Nguyen QTR, Bachoud-Levi AC, Reinhard C and Ortigoza-Escobar JD
Publicada:
1 jul 2024
Ahead of Print:
1 jun 2024
Resumen:
Background: NKX2-1-related disorder (NKX2-1-RD) is a rare disease characterized by a triad of primary hypothyroidism, neonatal respiratory distress, and neurological features, including chorea. Objective: This study aimed to identify discrepancies in the management of NKX2-1-RD among European Union (EU) specialists. Methods: The ERN-RND Chorea & Huntington disease group designed a survey to conduct a cross-sectional multicenter study on the management of NKX2-1-RD. Descriptive analysis was performed, and total responses are presented for each item. Results: The study involved 23 experts from 13 EU countries with experience in evaluating hyperkinetic patients with NKX2-1-RD: 11 were adult specialists, and 12 were pediatric specialists. NKX2-1-RD diagnosis was made at different ages, with the most common initial symptoms being hypotonia and/or motor developmental delay (reported by 11 experts) and chorea (reported by 8 experts). Chorea involved various body parts and showed improvement as reported by 9 experts, stabilization by 12 experts, and worsening by 2 experts with age. The pharmacological treatment of chorea varied widely among the experts. Misdiagnosis was reported by 14 experts. NKX2-1 pathogenic variants or deletions were confirmed in >75 % of patients (reported by 12 experts). Pulmonary and endocrinology evaluations were requested by 7 and 12 experts, respectively. The management of psychiatric comorbidities also varied among the different experts. Conclusions: This study highlights the need for a clinical practice guideline for the management of NKX2-1-RD to ensure that patients across the EU receive consistent and appropriate care. Such a guideline would benefit both doctors and healthcare practitioners.
Filiaciones:
:
Department of Paediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Spain
Nguyen QTR:
Assistance Publique-Hôpitaux de Paris, Henri Mondor Hospital, National Center of Reference for Huntington's Disease, Créteil, France
Département D'Etudes Cognitives, École Normale Supérieure, PSL University, Paris, France
Univ Paris Est Creteil, INSERM, U955, Institut Mondor de Recherche Biomédicale, Laboratoire de Neuropsychologie Interventionnelle, Creteil, France
Bachoud-Levi AC:
Assistance Publique-Hôpitaux de Paris, Henri Mondor Hospital, National Center of Reference for Huntington's Disease, Créteil, France
Département D'Etudes Cognitives, École Normale Supérieure, PSL University, Paris, France
Centre for Rare Diseases and Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Calwerstr. 7, 72076, Tübingen, Germany
Reinhard C:
Centre for Rare Diseases and Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Calwerstr. 7, 72076, Tübingen, Germany
Ortigoza-Escobar JD:
Department of Paediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Spain
Centre for Rare Diseases and Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Calwerstr. 7, 72076, Tübingen, Germany
U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain
|