Publications

The IAF has developed several manuscripts through the combined expertise of our international Steering Committee and members, including guiding principles for care, practical considerations in the management of adults and the measurement of outcomes in clinical practice. Our work reflects a collaborative, multidisciplinary approach and is intended to promote consistency of care, improve patient outcomes, and encourage global best practice.

Publications

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Showing 6 results for “Mohnike K”.

March 2025
Publication thumbnail: Recommendations for management of infants and young children with achondroplasia: Does clinical practice align?

Recommendations for management of infants and young children with achondroplasia: Does clinical practice align?

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Guillen-Navarro et al. explored awareness of and alignment with international recommendations for achondroplasia, and how closely recommendations are followed in clinical practice. Results from two surveys showed high awareness among clinicians, but lower awareness among parents of children with achondroplasia. This paper highlights opportunities to improve consistency in care and raise awareness across the achondroplasia community.

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May 2024
Publication thumbnail: European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia

European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia

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Practical Considerations for Following Adults With Achondroplasia by Fredwall S, et al. is now available in Advances in Therapy. This manuscript addresses the challenges of providing consistent multidisciplinary care to adults with achondroplasia.

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July 2023
Publication thumbnail: European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis

European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis

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The EAF have developed six guiding principles for the detection and management of foramen magnum stenosis to provide clear guidance on routine clinical monitoring, timing of routine MRI screening, when to refer to a neurosurgical specialist in achondroplasia, decision-making to proceed with decompression, and management of older children in whom previously undetected FMS is identified.

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August 2022
Publication thumbnail: Optimising care and follow-up of adults with achondroplasia

Optimising care and follow-up of adults with achondroplasia

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The EAF undertook exploratory surveys to improve our understanding of the care that adults with achondroplasia receive, and the period of transition from paediatric to adult care. Some key barriers to optimal care emerged; identifying and overcoming these is crucial to improving the care of adults.

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July 2022
Publication thumbnail: Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations

Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations

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The EAF reviewed the timepoint of diagnosis and referral of achondroplasia in six European centres. There is often a delay in referral to a specialist centre, so the EAF developed some best practice recommendations to ensure accurate diagnosis and timely referral to a clinician or multidisciplinary specialist in achondroplasia to enable optimum management.

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Publication thumbnail: The first European consensus on principles of management for achondroplasia

The first European consensus on principles of management for achondroplasia

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The EAF’s first publication focused on developing guiding principles of management for achondroplasia. Having assessed the unmet needs associated with achondroplasia and the many differences in how the condition is managed across Europe, a consensus was reached on six overarching considerations for all healthcare professionals, patient advocacy groups and policy makers involved in the management of achondroplasia.

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