Towards Personalised Care for Rare Genetic Disorders

Agnies M van Eeghen^{1

2}, Erik Boot^{2

3

4}

Affiliations

¹ Emma Children's Hospital, Amsterdam UMC, Amsterdam, the Netherlands.
² 's Heeren Loo Zorggroep, Amersfoort, the Netherlands.
³ Department of Psychiatry and Neuropsychology, Mental Health and Neuroscience Institute (MHeNs), Maastricht University, Maastricht, the Netherlands.
⁴ The Dalglish Family 22q Clinic, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada.

Editorial

Agnies M van Eeghen et al. J Intellect Disabil Res. 2025 Sep.

. 2025 Sep;69(9):729-731.

doi: 10.1111/jir.70029. Epub 2025 Sep 2.

Agnies M van Eeghen^{1

2}, Erik Boot^{2

3

4}

¹ Emma Children's Hospital, Amsterdam UMC, Amsterdam, the Netherlands.
² 's Heeren Loo Zorggroep, Amersfoort, the Netherlands.
³ Department of Psychiatry and Neuropsychology, Mental Health and Neuroscience Institute (MHeNs), Maastricht University, Maastricht, the Netherlands.
⁴ The Dalglish Family 22q Clinic, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada.

No abstract available

References

1. Klein Haneveld, M. J., K. Vyshka, C. M. W. Gaasterland, et al. 2025. “‘Mind the Gap’ – A Survey on Care Gaps and Priorities for the Transition to Adult Healthcare According to Caregivers of Young People With Rare Conditions Associated With Intellectual Disability.” Journal of Intellectual Disability Research 69: 480–488.
1. Maia, N., M. J. Nabais Sa, M. Melo‐Pires, A. P. M. de Brouwer, and P. Jorge. 2021. “Intellectual Disability Genomics: Current State, Pitfalls and Future Challenges.” BMC Genomics 22: 909.
1. Müller, A. R., M. Brands, P. M. van de Ven, et al. 2021. “Systematic Review of N‐of‐1 Studies in Rare Genetic Neurodevelopmental Disorders: The Power of 1.” Neurology 96: 529–540.
1. Müller, A. R., N. Y. van Silfhout, B. den Hollander, et al. 2024. “Navigating the Outcome Maze: A Scoping Review of Outcomes and Instruments in Clinical Trials in Genetic Neurodevelopmental Disorders and Intellectual Disability.” Therapeutic Advances in Rare Disease 5: 26330040241245721.