Reference center : Reference center for rare epilepsies (CRéER)
Project leaders : Théo Teng (therapeutic education nurse) and Pr Rima Nabbout

Summary :

Rare epilepsies in children are a heterogeneous group of epilepsies characterized by often drug-resistant epileptic seizures associated in their most severe forms with neurodevelopmental disorders, psychiatric and behavioral disorders as well as movement disorders. Nevertheless, the epileptic seizure, especially when it is convulsive or when it causes falls and / or cyanosis, remains the central element, unpredictable and frightening.

The recognition of the crisis, the implementation of first aid measures and the administration of emergency treatment are often unrecognized and surrounded by erroneous beliefs (holding the tongue, putting the hand in the mouth, etc.). This results in stress, anxiety and inability of the adult leading to poor care of the child or even refusal of care.

The mobile epilepsy team in Necker aims to prevent and avoid the exclusion of children with rare epilepsies from society so as not to add a feeling of abandonment and exclusion to the difficulties of families.

To accompany and support the life project of parents and children, as close as possible to their needs and their specificities, our project aims to decompartmentalize therapeutic education on rare epilepsies beyond the hospital to extend beyond the stricto sensu family, namely caregivers, caregivers, educators, early childhood professionals (nurseries, nanny, etc.). Indeed, even if therapeutic education is provided by a multidisciplinary team, it does not manage to reach all the actors in the daily life of children.

The mobile therapeutic education team will aim to travel and meet caregivers, to inform them, help them acquire self-care, safety and adaptation skills. These actions will thus promote the social inclusion of these children and will improve the daily experience and the impact of the disease on their quality of life and that of their family in order to avoid risky and endangering situations.

Clinico-biological characterization for a better multidisciplinary care and recognition of the disease(s).

Reference center : Reference center for mastocytoses (CEREMAST)
Project leaders : Pr Olivier Hermine, Pr Christine Bodemer, Dr Céline Greco, Dr Julien Rossignol, Dr Laura Polivka et Séverine Hatton (pediatric pain nurse)

Summary :

Introduction :
Mast cell activation syndrome (MCAS) is a disease associated with abnormal activation of immune cells called mast cells. These cells are normally involved in antimicrobial and parasitic defenses but can sometimes become abnormal and activate inappropriately. Patients with this syndrome present symptoms resembling those of allergy (itching, diarrhea, food intolerance, skin rash, etc.) but also other types of symptoms (fatigue, muscle pain, memory impairment, concentration disorder or even psychiatric illnesses such as depression). The medico-social impact is major with children dropping out of school or losing jobs for adults quickly leading to social disinsertion. MCASs are often associated with musculoskeletal disorders with joint hyperlaxity classified under the hypermobility spectrum. The cause of this combination of symptoms remains unknown. To date, no biological analysis or additional examination has confirmed the diagnosis of MCAS. The diagnosis is made by clinical examination by an expert doctor who knows the combination of these symptoms. Thus many patients are in diagnostic wanderings linked to a lack of knowledge of this disease.

Goals :
The objectives of our research project are :

• to recognize the symptoms of MCAS as a disease and to characterize them in all their medical and socio-psychological dimensions;
• to develop genetic and biological diagnostic tools to facilitate diagnosis and initiate appropriate treatments, while limiting diagnostic error.

Methods :
We will include 60 MCAS patients with hypermobility spectrum disorders (30 children and 30 adults) whose diagnosis has been confirmed by the two expert reference centers. Each patient will then have a well-defined course of care with a psychological, dietary and social assessment as well as an assessment by the functional unit of pain. Biological (tryptase assay), molecular and metabolomic blood tests will be performed.

Expected results :
This work should lead to a better characterization of this little-known entity and its burden in all its medical, social and psychiatric dimensions. Better recognition of the disease through the establishment of reliable diagnostic tests should lead to better overall management of patients with MCAS.

Reference center : Reference center for rare gynecological pathologies (PGR)
Project leaders : Karinne Gueniche (psychologist) et Dr Alaa Cheikhelard

Summary :

The announcement in adolescence of uterine and vaginal aplasia (absence) (MRKH syndrome) causes severe mental suffering linked to the difficulty of access to sexuality and motherhood. In 2018, we published a national study on the overall and sexual quality of life of 131 patients, concluding that there is no superiority between the different treatments for vaginal aplasia (surgery or not).

At the same time, 40 patients underwent a further psychological assessment of the psycho-social impact of the diagnostic announcement. This revealed a real experience of disability, and unexpectedly, food addictive reaction disorders (anorexia /bulimia) or sports, and an over-representation of heterosexual orientation compared to the general population. The absence of a uterus caused great moral pain over the projections for access to biological motherhood.

We now wish to assess the evolution of this suffering 5 years later, hoping to find an improvement in the quality of life, a disappearance of addictive disorders and possibly a more vivid expression, but also painful due to age, of the desire for motherhood even if the uterus transplant is hopeful. Finding predictive factors of psycho-social difficulties would improve our care practices, in particular psychological ones, which could also benefit other women with a rare disease impacting their sexuality and / or fertility.

Reference center :  Reference center for Pierre Robin syndrome and congenital sucking-swallowing disorders (SPRATON)
Project leaders : Gaëlle Malécot (psychomotor therapist)

Summary :

We have observed within the SPRATON (specialized in eating difficulties) and M3C (for heart diseases) reference centers that a large number of infants develop sensory difficulties postoperatively such as sensory hypersensitivity. This complicates carrying and mothering, making these babies irritable and at risk of developing developmental or eating disorders.

This study, developed mainly by a psychomotor therapist, consists of measuring the prevalence of sensory integration disorders in babies operated on for isolated heart disease. During 3 consultations after the operation, the completion of a parental questionnaire will make it possible to develop a sensory profile of these babies and the impact on their diet.

This analysis will help to better identify these sensory disorders and develop early prevention actions within cardiac resuscitation services.