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DOI: 10.1055/s-0040-1717135
Transitioning Ambulatory Medicine from Pediatrics to Adult Care for Patients with Epilepsy and Intellectual Disability
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Abstract
Consensus statements and clinical reports exist to guide the transition of youth from pediatric to adult healthcare services. Across the range of youth with no chronic health conditions to those with the most complex disabilities, the standards of practice continue to vary broadly across the country and internationally. Youth and young adults with combined conditions of epilepsy with intellectual disability are a small subset of the total population of young adults who share common needs. These include a system of supports that supplement each person's limitations in autonomy and self-management. Caregivers play significant roles in their lives, whether they are family members or paid direct service providers. Medical decision making and treatment adherence require specific adaptations for patients whose independence due to disability is unlikely. Key issues related to tuberous sclerosis complex, neurofibromatosis, and Rett and Sturge–Weber syndromes will be highlighted.
Publication History
Received: 28 July 2020
Accepted: 06 August 2020
Article published online:
30 September 2020
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References
- 1 Leung S, Walgrave M, Mennito S. Improving transitions of care for healthy adolescents and young adults. South Med J 2019; 112 (10) 501-511
- 2 Graves L, Leung S, Raghavendran P, Mennito S. Transitions of care for healthy young adults: promoting primary care and preventive health. South Med J 2019; 112 (09) 497-499
- 3 Carrizosa J, An I, Appleton R, Camfield P, Von Moers A. Models for transition clinics. Epilepsia 2014; 55 (Suppl. 03) 46-51
- 4 Woodward JF, Swigonski NL, Ciccarelli MR. Assessing the health, functional characteristics, and health needs of youth attending a noncategorical transition support program. J Adolesc Health 2012; 51 (03) 272-278
- 5 McManus M, White P, Pirtle R, Hancock C, Ablan M, Corona-Parra R. Incorporating the six core elements of health care transition into a Medicaid managed care plan: lessons learned from a pilot project. J Pediatr Nurs 2015; 30 (05) 700-713
- 6 Brown LW, Camfield P, Capers M. et al. The neurologist's role in supporting transition to adult health care: a consensus statement. Neurology 2016; 87 (08) 835-840
- 7 Oskoui M, Wolfson C. Treatment comfort of adult neurologists in childhood onset conditions. Can J Neurol Sci 2012; 39 (02) 202-205
- 8 VanGompel EC, Jerant AF, Franks PM. Primary care attributes associated with receipt of preventive care services: a national study. J Am Board Fam Med 2015; 28 (06) 733-741
- 9 Jackson GL, Powers BJ, Chatterjee R. et al. The patient centered medical home. A systematic review. Ann Intern Med 2013; 158 (03) 169-178
- 10 Ferrante JM, Balasubramanian BA, Hudson SV, Crabtree BF. Principles of the patient-centered medical home and preventive services delivery. Ann Fam Med 2010; 8 (02) 108-116
- 11 Patel DR, Cabral MD, Ho A, Merrick J. A clinical primer on intellectual disability. Transl Pediatr 2020; 9 (Suppl. 01) S23-S35
- 12 Bigby C. Known well by no-one: trends in the informal social networks of middle-aged and older people with intellectual disability five years after moving to the community. J Intellect Dev Disabil 2008; 33 (02) 148-157
- 13 Friedman RI. Use of advance directives: facilitating health care decisions by adults with mental retardation and their families. Ment Retard 1998; 36 (06) 444-456
- 14 Both P, Ten Holt L, Mous S. et al. Tuberous sclerosis complex: concerns and needs of patients and parents from the transitional period to adulthood. Epilepsy Behav 2018; 83: 13-21
- 15 Chiron C, An I. Pharmacology aspects during transition and at transfer in patients with epilepsy. Epilepsia 2014; 55 (Suppl. 03) 8-11
- 16 McGuire BE, Bayley AA. Relationships, sexuality and decision-making capacity in people with an intellectual disability. Curr Opin Psychiatry 2011; 24 (05) 398-402
- 17 Toldo I, Brasson V, Miscioscia M. et al. Tuberous sclerosis-associated neuropsychiatric disorders: a paediatric cohort study. Dev Med Child Neurol 2019; 61 (02) 168-173
- 18 Stewart DR, Korf BR, Nathanson KL, Stevenson DA, Yohay K. Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med 2018; 20 (07) 671-682
- 19 Asadi-Pooya AA. Lennox-Gastaut syndrome: a comprehensive review. Neurol Sci 2018; 39 (03) 403-414
- 20 Camfield CS, Berg A, Stephani U, Wirrell EC. Transition issues for benign epilepsy with centrotemporal spikes, nonlesional focal epilepsy in otherwise normal children, childhood absence epilepsy, and juvenile myoclonic epilepsy. Epilepsia 2014; 55 (Suppl. 03) 16-20
- 21 Curatolo P, Moavero R, de Vries PJ. Neurological and neuropsychiatric aspects of tuberous sclerosis complex. Lancet Neurol 2015; 14 (07) 733-745
- 22 Nashef L, Capovilla G, Camfield C, Camfield P, Nabbout R. Transition: driving and exercise. Epilepsia 2014; 55 (Suppl. 03) 41-45
- 23 ILAE Commission report. Restrictions for children with epilepsy. Commission of Pediatrics of the ILAE. International League Against Epilepsy. Epilepsia 1997; 38 (09) 1054-1056
- 24 Frost M, Hulbert J. Clinical management of tuberous sclerosis complex over the lifetime of a patient. Pediatric Health Med Ther 2015; 6: 139-146
- 25 Devinsky O. Transition to adult care for children with epilepsy--a call for action. Epilepsia 2014; 55 (Suppl. 03) 54-55
- 26 Nabbout R, Camfield P. Bringing the transition of epilepsy care from children to adults out of the shadows. Epilepsia 2014; 55 (Suppl. 03) 52-53
- 27 Nguyen R, Téllez Zenteno JF. Injuries in epilepsy: a review of its prevalence, risk factors, type of injuries and prevention. Neurol Int 2009; 1 (01) e20
- 28 Bar C, Ghobeira R, Azzi R. et al. Experience of follow-up, quality of life, and transition from pediatric to adult healthcare of patients with tuberous sclerosis complex. Epilepsy Behav 2019; 96: 23-27
- 29 Thiele EA, Granata T, Matricardi S, Chugani HT. Transition into adulthood: tuberous sclerosis complex, Sturge-Weber syndrome, and Rasmussen encephalitis. Epilepsia 2014; 55 (Suppl. 03) 29-33
- 30 Cross JH, Duchowny M. Transition in lesional focal epilepsy, and following epilepsy surgery. Epilepsia 2014; 55 (Suppl. 03) 34-36
- 31 Peron A, Canevini MP, Ghelma F, Di Marco F, Vignoli A. Healthcare transition from childhood to adulthood in tuberous sclerosis complex. Am J Med Genet C Semin Med Genet 2018; 178 (03) 355-364
- 32 Ciccarelli MR, Brown MW, Gladstone EB, Woodward JF, Swigonski NL. Implementation and sustainability of statewide transition support services for youth with intellectual and physical disabilities. J Pediatr Rehabil Med 2014; 7 (01) 93-104
- 33 Van Lierde A, Menni F, Bedeschi MF. et al. Healthcare transition in patients with rare genetic disorders with and without developmental disability: neurofibromatosis 1 and Williams-Beuren syndrome. Am J Med Genet A 2013; 161A (07) 1666-1674
- 34 Rietman AB, van Helden H, Both PH. et al. Worries and needs of adults and parents of adults with neurofibromatosis type 1. Am J Med Genet A 2018; 176 (05) 1150-1160
- 35 Kluwe L, Bayer S, Baser ME. et al. Identification of NF2 germ-line mutations and comparison with neurofibromatosis 2 phenotypes. Hum Genet 1996; 98 (05) 534-538
- 36 Gaudioso C, Listernick R, Fisher MJ, Campen CJ, Paz A, Gutmann DH. Neurofibromatosis 2 in children presenting during the first decade of life. Neurology 2019; 93 (10) e964-e967
- 37 Bourn D, Carter SA, Evans DGR, Goodship J, Coakham H, Strachan T. A mutation in the neurofibromatosis type 2 tumor-suppressor gene, giving rise to widely different clinical phenotypes in two unrelated individuals. Am J Hum Genet 1994; 55 (01) 69-73
- 38 Merker VL, Bergner AL, Vranceanu AM, Muzikansky A, Slattery III W, Plotkin SR. Health-related quality of life of individuals with neurofibromatosis type 2: results from the NF2 natural history study. Otol Neurotol 2016; 37 (05) 574-579
- 39 Rodocanachi Roidi ML, Isaias IU, Cozzi F. et al. Motor function in Rett syndrome: comparing clinical and parental assessments. Dev Med Child Neurol 2019; 61 (08) 957-963
- 40 Matijevic T, Knezevic J, Slavica M, Pavelic J. Rett syndrome: from the gene to the disease. Eur Neurol 2009; 61 (01) 3-10
- 41 Nabbout R, Andrade DM, Bahi-Buisson N. et al. Outcome of childhood-onset epilepsy from adolescence to adulthood: transition issues. Epilepsy Behav 2017; 69: 161-169
- 42 Scala E, Ariani F, Mari F. et al. CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. J Med Genet 2005; 42 (02) 103-107
- 43 Cianfaglione R, Clarke A, Kerr M, Hastings RP, Oliver C, Felce D. Ageing in Rett syndrome. J Intellect Disabil Res 2016; 60 (02) 182-190
- 44 Isaias IU, Dipaola M, Michi M. et al. Gait initiation in children with Rett syndrome. PLoS One 2014; 9 (04) e92736
- 45 Colvin L, Fyfe S, Leonard S. et al. Describing the phenotype in Rett syndrome using a population database. Arch Dis Child 2003; 88 (01) 38-43
- 46 Shirley MD, Tang H, Gallione CJ. et al. Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med 2013; 368 (21) 1971-1979
- 47 Sujansky E, Conradi S. Outcome of Sturge-Weber syndrome in 52 adults. Am J Med Genet 1995; 57 (01) 35-45
- 48 Day AM, Hammill AM, Juhász C. et al. National Institutes of Health Sponsor: Rare Diseases Clinical Research Network (RDCRN) Brain and Vascular Malformation Consortium (BVMC) SWS Investigator Group. Hypothesis: Presymptomatic treatment of Sturge-Weber syndrome with aspirin and antiepileptic drugs may delay seizure onset. Pediatr Neurol 2019; 90: 8-12
- 49 Raches D, Hiscock M, Chapieski L. Behavioral and academic problems in children with Sturge-Weber syndrome: differences between children with and without seizures. Epilepsy Behav 2012; 25 (03) 457-463