AIM
To develop the Pediatric Autoimmune encephalitis Severity Scale (PASS) using expert consensus and the Delphi process, and validate it in children with autoimmune encephalitis.
METHOD
This prospective observational study enrolled children who underwent serial rating with PASS, the Clinical Assessment Scale in Autoimmune Encephalitis (CASE), and the modified Rankin Scale, at eight time points until 6 months of presentation. Clinical outcomes included the Pediatric Quality of Life Inventory (PedsQL) score (parent-rated) and developmental and intellectual outcome at 6 months. Interrater agreement, internal consistency, and correlations of PASS and CASE with clinical outcomes were compared.
RESULTS
There were 361 assessments in 27 children (11 females, 16 males) with autoimmune encephalitis (15 with antibody-negative autoimmune encephalitis, 11 with N-methyl-D-aspartate receptor antibody encephalitis, and one with steroid-responsive encephalopathy associated with autoimmune thyroiditis) with a median age at onset of 4 years (interquartile range = 3 years to 6 years 5 months). There was excellent interrater agreement for PASS and CASE with comparable intraclass correlation coefficients (0.984 vs 0.983). The worst PASS score was inversely correlated with the final PedsQL score (r = -0.42, p = 0.047). Factor analysis revealed distinct 'cognitive and behavioural' and 'disinhibition and excitability' dimensions in the PASS items.
INTERPRETATION
PASS is a severity assessment tool for autoimmune encephalitis in children and offers an alternative to adult scales, which may be difficult to use in children.
Priyanka Madaan, Suvasini Sharma, A. Easton et al.· Developmental Medicine & Chi...· 1 citation
AIM
To evaluate genetic testing practices (exome sequencing, commercial panel, and in-house genetic panels) from a large tertiary hospital for determining gaps, and to identify clinical associations with pathogenic genetic variants.
METHOD
This retrospective cohort study included patients (age < 18 years) from a neurology department for whom genetic testing was requested for neurological disorders, epilepsy, and movement disorders (2020-2023). Logistic regression was used to identify clinical features predictive of positive results. The clinical benefits of genetic testing were studied.
RESULTS
Three hundred and ninety patients underwent genetic testing by exome sequencing (n = 125), commercial panel (n = 143), in-house epilepsy (n = 78), and movement disorder (n = 44) gene panels. Exome sequencing had the highest pathogenic yield (n = 49, 39%), followed by epilepsy (n = 22, 28%), movement disorder (n = 11, 25%), and commercial (n = 22, 15%) panels. Variants of uncertain significance were highest in commercial (64%) and epilepsy (34%) panels. Among the exome sequencing cohort, the predominant clinical features were developmental delay (89%), intellectual disability (51%), and epilepsy (35%). Pathogenic variants in the exome sequencing cohort were more likely in patients with severe developmental delay (33%, p = 0.03) and hypotonia (39%, p = 0.05). There was significant utility of genetic testing in informing clinical decision making (49% of pathogenic variants in exome sequencing cohort).
INTEPRETATION
Exome sequencing outperforms gene panels in confirming genetic diagnoses in paediatric neurological disorders, and highlights the need for building local diagnostic genetic-testing resources.
Wafa Bani Uraba, Byoung Chan Lee, S. Mohammad et al.· Developmental Medicine & Chi...· 0 citations
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