%0 Journal Article
%T Insights from European Reference Network for rare neurological disorders study surveys on diagnosis, treatment, and management of NKX2-1-related disorders.
%A Nou-Fontanet L
%A Nguyen QTR
%A Bachoud-Levi AC
%A Reinhard C
%A  
%A Ortigoza-Escobar JD
%J Eur J Paediatr Neurol
%V 51
%N 0
%D 2024 Jul 19
%M 38917695
%F 3.692
%R 10.1016/j.ejpn.2024.06.007
%X <B>BACKGROUND: </B>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.<BR><B>OBJECTIVE: </B>This study aimed to identify discrepancies in the management of NKX2-1-RD among European Union (EU) specialists.<BR><B>METHODS: </B>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.<BR><B>RESULTS: </B>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.<BR><B>CONCLUSIONS: </B>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.