Evaluation of an innovative support programme for young patients with rare genetic epilepsies

Complex epilepsies require multidisciplinary care throughout life. A coordinated transition programme is therefore essential to provide optimal support for patients leaving paediatric care for adult care. To this end, Prof. Rima Nabbout and her colleagues have evaluated a transition programme including patients with complex epilepsies who underwent all stages of the programme at the Necker-Enfants Malades hospital between May 2021 and June 2023, with follow-up until February 2024.
The transition programme, which is crucial to ensuring a smooth transition for patients to adult care, promotes seamless integration and represents a promising approach to optimising the management of the transition process, particularly for patients with complex epilepsy. The transition from paediatrics to adult care is characterised by a paradigm shift from ‘family-centred care’ to ‘patient-centred care’.

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Epilepsy is one of the most common chronic diseases in paediatric patients, and often presents diagnostic and therapeutic difficulties. The management of complex paediatric epilepsies, particularly complex forms such as epileptic and developmental encephalopathies (EED), epilepsies associated with metabolic or mitochondrial disorders, drug-resistant structural epilepsies or those associated with progressive syndromes, requires a structured multidisciplinary approach throughout life. This interdisciplinary collaboration is essential if we are to meet patients' changing needs and guarantee appropriate care at every stage of their lives and care pathway.

For epilepsies that persist into adulthood, the transition from paediatric to adult care requires careful planning and implementation. This often complex stage must be carefully anticipated. The transition programme must adopt a holistic and personalised approach to meet the specific needs of patients and their families. A thorough assessment of the diagnosis and individual needs must be carried out throughout the process, right up to the final phase prior to transfer to the adult care pathway.

Other transition programmes, in the context of type 1 diabetes and renal transplantation, have already demonstrated their effectiveness in integrating chronic paediatric patients into adult care. Under the coordination of Pr Rima Nabbout, the CRMR Epilepsies Rares (CréER), Institut Imagine (Inserm, AP-HP, Université Paris Cité) and the genetics department of Necker-Enfants malades hospital have followed a 3-year retrospective observational cohort to describe their transition programme. The study followed 70 patients aged between 13 and 20 years (mean age 19.1 years), 80% of whom had been diagnosed with an epileptic syndrome.

Hôpital Necker-Enfants malades developed a multidisciplinary transition programme structured in three distinct phases, involving professionals such as paediatric nurses, adult and child social workers, psychologists, paediatric neurologists, gynaecologists and adult nurses. During this transition, patients had the opportunity to take part in group educational sessions and individual consultations covering various aspects of adult life.

All information about patients, such as their history, co-morbidities and social, educational, legal, financial and family issues, must be passed on to the adult care coordinator. This transmission is designed to promote an individualised approach to each patient.

Finally, a ‘transition passport’, which includes all the essential information on the patient's history, including lifestyle, personal and family history, epilepsy history and current epileptic condition, seizure management protocol and therapies, the last clinical examination with cognitive and psychiatric evaluation, information on the rehabilitation programme, examinations carried out, social and societal integration, including palliative care, and the consolidation of therapeutic education, is finalised and explained to the family and the patient whenever possible. This passport is drawn up by the doctor working on the transition programme with the referring neuropaediatrician. The patient is formally referred for adult care, depending on the level of care required and the geographical proximity of the patient's home. This decision is prepared during the previous stages of the programme with the family or legal guardian involving the patient where possible.

This transition programme was evaluated using two indicators:

- the attendance rate at the first adult clinic: defined as the percentage of patients integrated into the adult care pathway, organised by the paediatric team;

- the ‘return rate’, defined as the percentage of patients who requested a paediatric consultation after their transfer.

 

The results show that the entire cohort sought a consultation in an adult care department in the 6 months following their transfer from paediatric care. Only two families requested a paediatric consultation after their transfer.

This study suggests a promising transition model for the management of complex epilepsy. A structured and coordinated programme based on a multidisciplinary approach could bring significant benefits to patients and their families by facilitating a smooth transition to adult care, while meeting the specific needs identified. Although the cost of such a programme may represent a substantial investment, its targeted application to patients with complex epilepsy, which is still undertreated, is therefore justified. In addition, this type of approach could be transposed to other chronic pathologies presenting similar challenges in terms of transition of care.

 

Reference :

Transition from pediatric to adult care system in patients with complex epilepsies: Necker model for transition evaluated on 70 consecutive patients.

Nabbout et al., Epilepsia, 2024

Corresponding author: Rima Nabbout

DOI: 10.1111/epi.18178j

 

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