Content of review 1, reviewed on April 26, 2021

This is a very good and worthy observation. The article is very well written. The only concern is that the authors mention in the results mild, moderate and profound neurodevelopmental phenotypes, but they do not indicate how this level of functioning was measured. Level of functioning was not mentioned in the summary table. Perhaps they had standardized testing (Bayley scales, Kauffman brief intelligence test or similar testing) or they should avoid grading the neuro dysfunction. They should mention only if the patients had or did not have developmental delay.

Source

    © 2021 the Reviewer.

Content of review 2, reviewed on June 11, 2021

NA

Source

    © 2021 the Reviewer.

References

    E., P. E., Chloe, W., O., H. M., D., C. R., Subhadra, R., J., S. L., Danita, V., Karl, D. D. J., Emily, S., Valerie, C., Maya, C., H., R. L., Christoffer, N., Shenela, L., J., M. E., Karin, P., Alpa, S., M., W. I., Didier, L., Vincent, M., S., A. F. 2021. CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum. Clinical Genetics.