Healthcare transition from childhood to adulthood in Tuberous Sclerosis Complex

Peron, Angela; Canevini, Maria Paola; Ghelma, Filippo; Marco, Fabiano Di

doi:10.1002/ajmg.c.31653

Cited by 28 publications

(40 citation statements)

References 57 publications

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“…Informing treating physicians/family doctors/first-line health care workers is essential for a good patient follow-up, especially if the patient lives relatively far from the MDT. This team should also agree to follow established guidelines and agreed-upon protocols and work towards establishing transition of care as patients age [28, 29]. Others have published on establishing an MDT and noted similar features such as the specialists involved, a care coordinator, contact with primary care physicians, and including a patient database [29]; however, this prior report was descriptive of their personal experience as opposed to providing committee-based recommendations and including the patient’s perspective as in our research.…”

Section: Discussionmentioning

confidence: 99%

“…Patient-reported experience of care had the greatest improvement for the particular cancers for which MDTs were more established [27]. In TSC, a multidisciplinary approach is also important in facilitating transition of care from childhood to adulthood as individuals age [20, 21, 28, 29]. Young adult patients have expressed the need for multidisciplinary care that is well informed and easily accessible, focuses on the patient as a whole (including mental and physical health among other factors), and includes his/her family as they transition to adult care [28].…”

Section: Introductionmentioning

confidence: 99%

“…Some reports have encouraged the use of specialized TSC clinics, which may not be available for all patients because of cost and geography [20]. There are others who have reported their personal experience in running an MDT clinic for TSC, including a list of practitioners involved and how care in their clinic is organized [29]. Other groups have focused on the patient concerns MDTs should consider when implementing a transition of care from youth to adulthood [28].…”

Section: Introductionmentioning

confidence: 99%

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A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report

Auvin

Bissler

Cottin

et al. 2019

Orphanet J Rare Dis

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Background Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder associated with mutations in TSC1 and TSC2 genes, upregulation of mammalian target of rapamycin signaling, and subsequent tumor formation in various organs. Due to the many manifestations of TSC and their potential complications, management requires the expertise of multiple medical disciplines. A multidisciplinary care approach is recommended by consensus guidelines. Use of multidisciplinary teams (MDTs) has been shown to be beneficial in treating other complex diseases, such as cancer. In a lifelong disease such as TSC, an MDT may facilitate the transition from pediatric to adult care. However, little guidance exists in the literature regarding how to organize an MDT in TSC. Methods To discuss the best approach to assembling an MDT, this project was initiated in October 2017 with a meeting of 12 physicians from various specialties and various countries. Following this first meeting, the experts generated statements on the most important aspects to implement in establishing an MDT for TSC by 3 rounds of selection using a Delphi process via electronic correspondence. Finally, TSC patient advocates reviewed the findings and provided additional insights from a patient perspective. Results A 3-step roadmap was recommended, starting with identifying a single individual to begin organizing care (Step 1), then establishing a small core team (Step 2), and finally, establishing a larger multi-disciplinary team (Step 3). Because of the multisystemic nature of TSC, the MDT should include specialists such as a neurologist, a neurosurgeon, a nephrologist, a urologist, a pulmonologist, an ophthalmologist, a cardiologist, a dermatologist, a geneticist, and a psychiatrist/psychologist. The MDT should recommend a care plan for each patient based on the individual’s needs and in consultation with him/her or his/her family. Some of the most important aspects of an MDT that were agreed upon included identifying a case manager to help coordinate care, providing access to health care professionals of varying specialties, and including a lead physician who takes medical responsibility for patients’ overall care. Conclusions The results of our consensus provide guidance to support the initiation of an MDT in TSC.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report

Auvin

Bissler

Cottin

et al. 2019

Orphanet J Rare Dis

View full text Add to dashboard Cite

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“…During childhood, a pediatrician is usually the coordinating health care provider. In adulthood, this role should be transferred to a physician working with adults, preferably someone with expertise on complex disorders 58,59…”

Section: Resultsmentioning

confidence: 99%

<p>Growth in CHARGE syndrome: optimizing care with a multidisciplinary approach</p>

Dijk

Bocca

Ravenswaaij-Arts

2019

JMDH

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CHARGE (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital hypoplasia, Ear anomalies including hearing loss) syndrome is a rare syndrome with an incidence of approximately 1:15,000 newborns. It is caused by pathogenic variants in the CHD7 gene and clinically characterized by a wide range of anomalies with variable expression. Growth retardation affects 60–72% of children with CHARGE syndrome, making it one of the most prominent medical issues in the syndrome. Growth retardation in CHARGE syndrome is thought to be multifactorial and can be influenced by almost all co-morbidities, requiring a multidisciplinary approach to the different medical problems. In this systematic review, we describe what is currently known about growth in CHARGE syndrome and how it is influenced by commonly seen clinical problems including feeding difficulties, hypogonadotropic hypogonadism and growth hormone deficiency. Furthermore, we provide recommendations for a multidisciplinary approach.

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“…More than 90% of TSC patients have structural lesions in the central nervous system, which have not only seriously affected their quality of life but also imposed a heavy economic burden on family and society [ 11 , 12 ]. Even though antiepileptic drugs, mTOR inhibitors, and surgical treatment can be chosen if necessary, the management of refractory epilepsy is still very intractable, attributing to the unclear etiopathogenesis [ 3 , 13 , 14 ].…”

Section: Discussionmentioning

confidence: 99%

The Important Role of Perituberal Tissue in Epileptic Patients with Tuberous Sclerosis Complex by the Transcriptome Analysis

Shao

Chang

2020

BioMed Research International

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Epilepsy is most common in patients with tuberous sclerosis complex (TSC). However, in addition to the challenging treatment, the pathogenesis of epilepsy is still controversial. To determine the transcriptome characteristics of perituberal tissue (PT) and clarify its role in the pathogenesis of epilepsy, GSE16969 was downloaded from the GEO database for further study by comprehensive bioinformatics analysis. Identification of differentially expressed genes (DEGs), functional enrichment analysis, construction of protein-protein interaction (PPI) network, and selection of Hub genes were performed using R language, Metascape, STRING, and Cytoscape, respectively. Comparing with cortical tuber (CT), 220 DEGs, including 95 upregulated and 125 downregulated genes, were identified in PT and mainly enriched in collagen-containing extracellular matrix and positive regulation of receptor-mediated endocytosis, as well as the pathways of ECM-receptor interaction and neuroactive ligand-receptor interaction. As for normal cortex (NC), 1549 DEGs, including 30 upregulated and 1519 downregulated genes, were identified and mainly enriched in presynapse, dendrite and axon, and also the pathways of dopaminergic synapse and oxytocin signaling pathway. In the PPI network, 4 hub modules were found between PT and CT, and top 5 hub modules were selected between PT and NC. C3, APLNR, ANXA2, CD44, CLU, CP, MCHR2, HTR1E, CTSG, APP, and GNG2 were identified as Hub genes, of which, C3, CD44, ANXA2, HTR1E, and APP were identified as Hub-BottleNeck genes. In conclusion, PT has the unique characteristics different from CT and NC in transcriptome and makes us further understand its importance in the TSC-associated epilepsy.

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Healthcare transition from childhood to adulthood in Tuberous Sclerosis Complex

Cited by 28 publications

References 57 publications

A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report

A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report

<p>Growth in CHARGE syndrome: optimizing care with a multidisciplinary approach</p>

The Important Role of Perituberal Tissue in Epileptic Patients with Tuberous Sclerosis Complex by the Transcriptome Analysis

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