癫痫：从儿童至成年的医疗过渡—来自安大略省癫痫执行工作组的建议_Journal of Epilepsy

Authors：

 Danielle M.Andrade , Anne S.Bassett , EduardBercovici , 刘旭　译 , 熊维希　慕洁　审

Corresponding author：

Danielle M.Andrade, Email: danielle.andrade@uhn.ca

Keywords：

癫痫; 过渡; 青少年; 青年; 遗传学; 出院方案; 过渡准备问卷

DOI：

10.7507/2096-0247.20180060

Video：

Export PDF Favorites Scan Get Citation

Abstract Full text Figures/Tables Video References Cited by

从儿童到成人的医疗保健系统的转变对许多患有癫痫的年轻人及其家庭来说是一个挑战。最近，加拿大安大略省卫生部和长期医疗部门成立了一个过渡工作组（Transition working group，TWG），为安大略省癫痫患者的过渡提出建议。在此对这项工作做出总结。TWG 包括儿科和成人癫痫病专家、精神科医生和来自学术界和社区的家庭医生，从事儿童和成人癫痫项目的社区医师、护士和社会工作者，以及青少年内科医师、律师、职业治疗师、社区癫痫机构的代表、癫痫患者和患者父母。该小组主要解决 3 个领域的问题：① 癫痫的诊断和管理；② 癫痫患者心理健康和社会心理需求；③ 癫痫患者经济、社会和法律支持。目前虽然还没有对过渡方案的结果进行系统研究，但 TWG 能早期识别处于过渡失败风险的青少年，在实际过渡之前即应协调儿童和成人神经科医师以及其他专家。过渡期是重新思考诊断和重复诊断检测（特别是基因检测，现有技术较多年前可发现更多病因）的理想时期。在转至成人医疗系统后部分筛查应重复。文章提出的 7 个步骤可以促进过渡，从而有助于为青少年癫痫患者转出儿童保健系统提供持续且合理的医疗服务。

Citation： Danielle M.Andrade, Anne S.Bassett, EduardBercovici, 刘旭　译, 熊维希　慕洁　审. 癫痫：从儿童至成年的医疗过渡—来自安大略省癫痫执行工作组的建议. Journal of Epilepsy, 2018, 4(4): 362-373. doi: 10.7507/2096-0247.20180060 Copy

1.	Sillanpää M, Jalava M, Kaleva O, et al. Long-term prognosis of seizures with onset in childhood. N Engl J Med, 1998, 338(24): 1715-1722.
2.	Sillanpää M, Haataja L, Shinnar S. Perceived impact of childhoodonset epilepsy on quality of life as an adult. Epilepsia, 2004, 45(8): 971-977.
3.	Geerts A, Arts WF, Stroink H, et al. Course and outcome of childhood epilepsy: a 15-year follow-up of the Dutch Study of Epilepsy in Childhood.Epilepsia, 2010, 51(7): 1189-1197.
4.	Camfield C, Camfield P. Juvenile myoclonic epilepsy 25 years after seizure onset: a population-based study - Google Scholar. Neurology, 2009, 7(): 1041-1045.
5.	Camfield C, Camfield P. The adult seizure and social outcomes of children with partial complex seizures. Brain, 2013, 136(Pt 2): 593-600.
6.	American Academy of Pediatrics, American Academy of Family Physicians, American College of Physicians - American Society of Internal Medicine. A consensus statement on health care transitions for young adults with special health care needs. Pediatrics, 2002, 110(6 Pt2): 1304-1306.
7.	Prior M, McManus M, White P, et al. Measuring the ‘aim’ in transition care: a systematic review. Pediatrics, 2014, 134(6): e1648-e1661.
8.	Camfield C, Camfield P. Twenty years after childhood-onset symptomatic generalized epilepsy the social outcome is usually dependency or death: A population-based study. Dev Med Child Neurol, 2008, 50(11): 859-863.
9.	Camfield C, Camfield P, Smith B, et al. Biologic factors as predictors of social outcome of epilepsy in intellectually normal children: a population-based study. J Pediatr, 1993, 122(6): 869-873.
10.	Jennum P, Gyllenborg J, Kjellberg J. The social and economic consequences of epilepsy: a controlled national study. Epilepsia, 2011, 52(5): 949-956.
11.	Berg AT, Baca CB, Rychlik K, et al. Determinants of social outcomes in adults with childhood-onset epilepsy. Pediatrics, 2016, 137(4): e20153944.
12.	Shackleton DP, Kasteleijn-Trenit DG, de Craen AJ, et al. Living with epilepsy: Long-term prognosis and psychosocial outcomes. Neurology, 2003, 61(1): 64-70.
13.	Kokkonen J, Kokkonen ER, Saukkonen AL, et al. Psychosocial outcome of young adults with epilepsy in childhood. J Neurol Neurosurg Psychiatry, 1997, 62(3): 265-268.
14.	Wirrell EC, Camfield C, Camfield P, et al. Long-term psychosocial outcome in typical abscence epilepsy. Arch Pediatr Med, 1997, 151(2): 152-158.
15.	Jalava M, Sillanpää M. Physical activity, health-related fitness, and health experience in adults with childhood-onset epilepsy: a controlled study. Epilepsia, 1997, 38(4): 424-429.
16.	Jennum P, Christensen J, Ibsen R, et al. Long-term socioeconomic consequences and health care costs of childhood and adolescent-onset epilepsy. Epilepsia, 2016, 57(7): 1078-1085.
17.	American Academy of Pediatrics, American Academy of Family Physicians, American College of Physicians, et al. Supporting the health care transition from adolescence to adulthood in the medical home. Pediatrics, 2011, 128: 182-200.
18.	Transitions from pediatric epilepsy to adult epilepsy care. Adolescent with significant developmental disability (independence unlikely). Am Epilepsy Soc. https://www.aesnet.org/sites/default/files/file_attach/ClinicalResources/PracticeTools/Transtoolsadolescents/AESTransi tionsPracticeTool-devdelayedFinalApproved4-21-132.pdf 2013, Accessed May 15, 2017.
19.	Transitions from pediatric epilepsy to adult epilepsy care: Adolescent without significant developmental disability (plan for independence).Am Epilepsy Soc. https://www.aesnet.org/sites/default/files/file_attach/ClinicalResources/PracticeTools/Transtoolsadolescents/AESTransitionsPracticeTool-normalFinalApproved4-21-132.pdf 2013, Accessed May 15, 2017.
20.	Provincial Council for Maternal and Child Health, Child and Youth Advisory Committee, Transition to Adult Healthcare Services Work Group. Report of the Transition to Adult Healthcare Services Work Group. Available at: http://www.pcmch.on.ca/wp-content/uploads/2015/07/Transition_Report-March-19_13_FINAL.pdf 2013, Accessed May 15, 2017.
21.	Campbell F, Biggs K, Aldiss SK, et al. Transition of care for adolescents from paediatric services to adult health services. Cochrane Database Syst Rev, 2016, 4: CD009794.
22.	National Institute for Health and Care Excellence. NICE guideline: Transition from children’s to adult services - Scope. Available at: https://www.nice.org.uk/guidance/NG43/documents/transition-fromchildrens-to-adult-services-final-scope3 Accessed July 23, 2016.
23.	Kreuzer M, Pr€ufe J, Bethe D, et al. The TRANSNephro-study examining a new transition model for post-kidney transplant adolescents and an analysis of the present health care: study protocol for a randomized controlled trial. Trials, 2014, 15: 505.
24.	Hepburn CM, Cohen E, Bhawra J, et al. Health system strategies supporting transition to adult care. Arch Dis Child, 2015, 100(6): 559-564.
25.	Brown L, Camfield P, Capers M, et al. The neurologists role in supporting transition to adult health care. Pediatrics, 2016, 87(8): 835-840.
26.	Camfield P, Camfield C, Pohlmann-Eden B. Transition from pediatric to adult epilepsy care: a difficult process marked by medical and social crisis. Epilepsy Curr, 2012, 12(Suppl 3): 13-21.
27.	Borlot F, Tellez-Zenteno JF, Allen A, et al. Epilepsy transition: challenges of caring for adults with childhood-onset seizures. Epilepsia, 2014, 55(10): 1659-1666.
28.	Appleton R, Chadwick D, Sweeney A. Managing the teenager adult care with epilepsy: paediatric to. Seizure, 1997, 6(1): 27-30.
29.	Carrizosa J, An I, Appleton R, et al. Models for transition clinics. Epilepsia, 2014, 55(Suppl 3): 46-51.
30.	Jurasek L, Ray L, Quigley D. Development and implementation of an adolescent epilepsy transition clinic. J Neurosci Nurs, 2010, 42(4): 181-189.
31.	Kuchenbuch M, Chemaly N, Chiron C, et al. Transition and transfer from pediatric to adult health care in epilepsy: A families’ survey on dravet syndrome. Epilepsy Behav, 2013, 29(1): 161-165.
32.	Geerlings R, Aldenkamp A, Gottmer-Welschen L, et al. Evaluation of a multidisciplinary epilepsy transition clinic for adolescents. Eur J Paediatr Neurol, 2016, 20(3): 385-392.
33.	Gall C, Kingsnorth S, Healy H. Growing up ready: a shared management approach. Phys Occup Ther Pediatr, 2006, 26(4): 89-103.
34.	Kieckhefer G, Trahms C. Supporting development of children with chronic conditions: from compliance toward shared management.Pediatr Nurs, 2000, 26(4): 354-363.
35.	Adult Healthcare Services Work Group. Transition to Adult Healthcare Services Work Group of the Provincial Council for Maternal and Child Health. Report of the Transition to Adult Healthcare Services Work Group.
36.	Van Staa A, Van Der Stege HA, Jedeloo S, et al. Readiness to transfer to adult care of adolescents with chronic conditions: Exploration of associated factors. J Adolesc Heal, 2011, 48(3): 295-302.
37.	While A, Forbes A, Ullman R, et al. Good practices that address continuity during transition from child to adult care: Synthesis of the evidence.Child Care Health Dev, 2004, 30(5): 439-452.
38.	Got Transition. Available at: http://gottransition.org/researchpolicy/in dex.html. Accessed June 19, 2017.
39.	Readiness Checklists. Available at: http://www.sickkids.ca/Good2Go/For-Youth-and-Families/Transition-Tools/Readiness-Checklists/Index.htm. Accessed June 19, 2017.
40.	My Health Passport. Available at: http://www.sickkids.ca/Good2Go/For-Youth-and-Families/Transition-Tools/MyHealth-Passport/Index.html. Accessed June 19, 2017.
41.	La Suite Necker. www.la-suite-necker.aphp.fr. Accessed June 19, 2017.
42.	Wolfstadt J, Kaufman A, Levitin J, et al. The use and usefulness of my health passport: An online tool for the creation of a portable health summary. Int J Child Adolesc Health, 2010, 3: 499-506.
43.	Bujoreanu IS, Ibeziako P, DeMaso DR. Psychiatric concerns in pediatric epilepsy. Child Adolesc Psychiatr Clin N Am, 2010, 19(2): 371-386.
44.	Rudzinski LA, Meador KJ. Epilepsy and neuropsychological comorbidities. Contin Lifelong Learn Neurol, 2013, 19: 682-696.
45.	Camfield P, Camfield C, Busiah K, et al. The transition from pediatric to adult care for youth with epilepsy: Basic biological, sociological, and psychological issues. Epilepsy Behav, 2017, 69: 170-176.
46.	Nabbout R, Camfield C, Andrade DM, et al. Treatment issues for children with epilepsy transitioning to adult care. Epilepsy Behav, 2017, 69: 161-169.
47.	Asato M, Manjunath R, Sheth RD, et al. Adolescent and caregiver experiences with epilepsy. J Child Neurol, 2009, 24(5): 562-571.
48.	D’Angelo DV, Gilbert BC, Rochat RW, et al. Differences between mistimed and unwanted pregnancies among women who have live births. Perspect Sex Reprod Health, 2004, 36(5): 192-197.
49.	Oulman E, Kim THM, Yunis K, et al. Prevalence and predictors of unintended pregnancy among women: an analysis of the canadian maternity experiences survey. BMC Pregnancy Childbirth, 2015, 15: 260.
50.	Finer L, Zolna M. Shifts in intended and unintended pregnancies in the us. Am J Public Health, 2014, 104(Suppl 1): 43-48.
51.	Greenberg M, Franklin G, Alter M. Practice parameter: Management issues for women with epilepsy (summary statement). Report of the quality standards subcommittee of the american academy of neurology. Epilepsia, 1998, 39(11): 1226-1231.
52.	Hernandez-Diaz S, Smith CR, Shen A, et al. Comparative safety of antiepileptic drugs during pregnancy. Neurology, 2012, 78(21): 1692-1699.
53.	Nashef L, Capovilla G, Camfield C, et al. Transition: Driving and exercise. Epilepsia, 2014, 55(Suppl 3): 41-45.
54.	Baker G, Spector S, McGrath Y, et al. Impact of epilepsy in adolscence: Auk controlled study. Epilepsy Behav, 2005, 6(4): 552-562.
55.	Reilly C, Atkinson P, Chin RF, et al. Symptoms of anxiety and depression in school-aged children with active epilepsy: A population-based study. Epilepsy Behav, 2015, 52(Pt A): 174-179.
56.	Baca CB, Vickrey BG, Caplan R, et al. Psychiatric and medical comorbidity and quality of life outcomes in childhood-onset epilepsy. Pediatrics, 2011, 128(6): e1532-e1543.
57.	Rubin IL, Merrick J, Greydanus DE, et al. Health care for people with intellectual and developmental disabilities across the lifespan, 3rd edn. Cham: Springer International Publishing Switzerland, 2016.
58.	Devinsky O, Asato M, Camfield P, et al. Delivery of epilepsy care to adults with intellectual and developmental disabilities. Neurology, 2015, 85(17): 1512-1521.
59.	Fasano A, Borlot F, Lang AE, et al. Antecollis and levodopa-responsive parkinsonism are late features of dravet syndrome. Neurology, 2014, 82(24): 2250-2251.
60.	Glauser TA, Loddenkemper T. Management of childhood epilepsy. Continuum (Minneap Minn), 2013, 19(3): 656-681.
61.	Reilly C, Menlove L, Fenton V, et al. Psychogenic nonepileptic seizures in children: A review. Epilepsia, 2013, 54(10): 1715-1724.
62.	Glaze D, Percy A, Skinner S, et al. Epilepsy and the natural history of rett syndrome neurology. Neurology, 2010, 74(11): 909-912.
63.	Glaze DG, Schultz RJ, Frost JD. Rett syndrome: Characterization of seizures versus non-seizures. Electroencephalogr Clin Neurophysiol, 1998, 106(1): 79-83.
64.	Claes L, Del-Favero J, Ceulemans B, et al. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet, 2001, 68(6): 1327-1332.
65.	Oliver KL, Lukic V, Freytag S, et al. In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery. Neurol Genet, 2016, 2(1): e51.
66.	Mirzaa GM, Paciorkowski AR, Marsh ED, et al. CDKL5 and ARX mutations in males with early-onset epilepsy. Pediatr Neurol, 2013, 48(5): 367-377.
67.	Carvill GL, Weckhuysen S, McMahon JM, et al. GABRA1 and STXBP1: Novel genetic copy of dravet syndrome. Neurology, 2014, 82(14): 1245-1253.
68.	Suls A, Jaehn J, Kecskes A, et al. De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with dravet syndrome. Am J Hum Genet, 2013, 93(5): 967-975.
69.	Martin H, Kim G, Pagnamenta A, et al. Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. Hum Mol Genet, 2014, 23(12): 2300-2311.
70.	Miller D, Adam M, Aradhya S, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet, 2010, 86(5): 749-764.
71.	Olson H, Shen Y, Avallone J, et al. Copy number variation plays an important role in clinical epilepsy. Ann Neurol, 2014, 75(6): 943-958.
72.	Campbell I, Rao M, Arredondo S, et al. Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy. PLoS Genet, 2013, 9(9): e1003797.
73.	Lal D, Ruppert AK, Trucks H, et al. Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies. PLoS Genet, 2015, 11(5): e1005226.
74.	Mefford HC, Yendle SC, Hsu C, et al. Rare copy number variants are an important cause of epileptic encephalopathies. Ann Neurol, 2011, 70(6): 974-985.
75.	Milligan CJ, Li M, Gazina EV, et al. KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine. Ann Neurol, 2014, 75(4): 581-590.
76.	Petrovski S, Shashi V, Petrou S, et al. Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition. Mol Case Stud, 2015, 1(1): a000257.
77.	Lingen M, Albers L, Borchers M, et al. Obtaining a genetic diagnosis in a child with disability: Impact on parental quality of life. Clin Genet, 2016, 89(2): 258-266.
78.	Guerrini R, Dravet C, Genton P, et al. Lamotrigine and seizure aggravation in severe myoclonic epilepsy. Epilepsia, 1998, 39(5): 508-512.
79.	Nascimento FA, Borlot F, Cossette P, et al. Two definite cases of sudden unexpected death in epilepsy in a family with a DEPDC5 mutation.Neurol Genet, 2015, 1(4): e28.
80.	Goldman AM, Glasscock E, Yoo J, et al. Arrhythmia in heart and brain: KCNQ1 mutations link epilepsy and sudden unexplained death. Sci Transl Med, 2009, 1(2): 2ra6.
81.	Klassen TL, Bomben VC, Patel A, et al. High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile. Epilepsia, 2014, 55(2): e6-e12.
82.	Glasscock E, Yoo J, Chen TT, et al. Kv1.1 potassium channel deficiency reveals brain-driven cardiac dysfunction as a candidate mechanism for sudden unexplained death in epilepsy. J Neurosci, 2010, 30(15): 5167-5175.
83.	Cheah CS, Yu F, Westenbroek RE, et al. Specific deletion of NaV1.1 sodium channels in inhibitory interneurons causes seizures and premature death in a mouse model of dravet syndrome. Proc Natl Acad Sci USA, 2012, 109(36): 14646-14651.
84.	Wagnon JL, Korn MJ, Parent R, et al. Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy. Hum Mol Genet, 2015, 24(2): 506-515.
85.	Leu C, Balestrini S, Maher B, et al. Genome-wide polygenic burden of rare deleterious variants in sudden unexpected death in epilepsy. EBio-Medicine, 2015, 2(9): 1063-1070.
86.	Veeramah KR, O’Brien JE, Meisler MH, et al. De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. Am J Hum Genet, 2012, 90(3): 502-510.
87.	Martinez CC, Pyzik PL, Kossoff EH. Discontinuing the ketogenic diet in seizure-free children: Recurrence and risk factors. Epilepsia, 2007, 48(1): 187-190.
88.	Klepper J, Leiendecker B. Glut1 deficiency syndrome and novel ketogenic diets. J Child Neurol, 2013, 28(8): 1045-1048.
89.	Klepper J. Glucose transporter deficiency syndrome (GLUT1DS) and the ketogenic diet. Epilepsia, 2008, 49(Suppl 8): 46-49.
90.	Kossoff EH. International consensus statement on clinical implementation of the ketogenic diet: Agreement, flexibility, and controversy. Epilepsia, 2008, 49(Suppl 8): 11-13.
91.	Klein P, Tyrlikova I, Mathews GC. Dietary treatment in adults with refractory epilepsy: A review. Neurology, 2014, 83(21): 1978-1985.
92.	Nei M, Ngo L, Sirven JI, et al. Ketogenic diet in adolescents and adults with epilepsy. Seizure, 2014, 23(6): 439-442.
93.	American Board of Medical Specialists. ABMS announces certification in new subspecialty: Adult congenital heart disease.
94.	Baumgartner H, Bonhoeffer P, De Groot NMS, et al. ESC Guidelines for the management of grown-up congenital heart disease (new version2010). Eur Heart J, 2010, 31(23): 2915-2957.
95.	Sable C, Foster E, Uzark K, et al. Best practices in managing transition to adulthood for adolescents with congenital heart disease: the transition process and medical and psychosocial issues. Circulation, 2011, 123(13): 1454-1485.

1. Sillanpää M, Jalava M, Kaleva O, et al. Long-term prognosis of seizures with onset in childhood. N Engl J Med, 1998, 338(24): 1715-1722.
2. Sillanpää M, Haataja L, Shinnar S. Perceived impact of childhoodonset epilepsy on quality of life as an adult. Epilepsia, 2004, 45(8): 971-977.
3. Geerts A, Arts WF, Stroink H, et al. Course and outcome of childhood epilepsy: a 15-year follow-up of the Dutch Study of Epilepsy in Childhood.Epilepsia, 2010, 51(7): 1189-1197.
4. Camfield C, Camfield P. Juvenile myoclonic epilepsy 25 years after seizure onset: a population-based study - Google Scholar. Neurology, 2009, 7(): 1041-1045.
5. Camfield C, Camfield P. The adult seizure and social outcomes of children with partial complex seizures. Brain, 2013, 136(Pt 2): 593-600.
6. American Academy of Pediatrics, American Academy of Family Physicians, American College of Physicians - American Society of Internal Medicine. A consensus statement on health care transitions for young adults with special health care needs. Pediatrics, 2002, 110(6 Pt2): 1304-1306.
7. Prior M, McManus M, White P, et al. Measuring the ‘aim’ in transition care: a systematic review. Pediatrics, 2014, 134(6): e1648-e1661.
8. Camfield C, Camfield P. Twenty years after childhood-onset symptomatic generalized epilepsy the social outcome is usually dependency or death: A population-based study. Dev Med Child Neurol, 2008, 50(11): 859-863.
9. Camfield C, Camfield P, Smith B, et al. Biologic factors as predictors of social outcome of epilepsy in intellectually normal children: a population-based study. J Pediatr, 1993, 122(6): 869-873.
10. Jennum P, Gyllenborg J, Kjellberg J. The social and economic consequences of epilepsy: a controlled national study. Epilepsia, 2011, 52(5): 949-956.
11. Berg AT, Baca CB, Rychlik K, et al. Determinants of social outcomes in adults with childhood-onset epilepsy. Pediatrics, 2016, 137(4): e20153944.
12. Shackleton DP, Kasteleijn-Trenit DG, de Craen AJ, et al. Living with epilepsy: Long-term prognosis and psychosocial outcomes. Neurology, 2003, 61(1): 64-70.
13. Kokkonen J, Kokkonen ER, Saukkonen AL, et al. Psychosocial outcome of young adults with epilepsy in childhood. J Neurol Neurosurg Psychiatry, 1997, 62(3): 265-268.
14. Wirrell EC, Camfield C, Camfield P, et al. Long-term psychosocial outcome in typical abscence epilepsy. Arch Pediatr Med, 1997, 151(2): 152-158.
15. Jalava M, Sillanpää M. Physical activity, health-related fitness, and health experience in adults with childhood-onset epilepsy: a controlled study. Epilepsia, 1997, 38(4): 424-429.
16. Jennum P, Christensen J, Ibsen R, et al. Long-term socioeconomic consequences and health care costs of childhood and adolescent-onset epilepsy. Epilepsia, 2016, 57(7): 1078-1085.
17. American Academy of Pediatrics, American Academy of Family Physicians, American College of Physicians, et al. Supporting the health care transition from adolescence to adulthood in the medical home. Pediatrics, 2011, 128: 182-200.
18. Transitions from pediatric epilepsy to adult epilepsy care. Adolescent with significant developmental disability (independence unlikely). Am Epilepsy Soc. https://www.aesnet.org/sites/default/files/file_attach/ClinicalResources/PracticeTools/Transtoolsadolescents/AESTransi tionsPracticeTool-devdelayedFinalApproved4-21-132.pdf 2013, Accessed May 15, 2017.
19. Transitions from pediatric epilepsy to adult epilepsy care: Adolescent without significant developmental disability (plan for independence).Am Epilepsy Soc. https://www.aesnet.org/sites/default/files/file_attach/ClinicalResources/PracticeTools/Transtoolsadolescents/AESTransitionsPracticeTool-normalFinalApproved4-21-132.pdf 2013, Accessed May 15, 2017.
20. Provincial Council for Maternal and Child Health, Child and Youth Advisory Committee, Transition to Adult Healthcare Services Work Group. Report of the Transition to Adult Healthcare Services Work Group. Available at: http://www.pcmch.on.ca/wp-content/uploads/2015/07/Transition_Report-March-19_13_FINAL.pdf 2013, Accessed May 15, 2017.
21. Campbell F, Biggs K, Aldiss SK, et al. Transition of care for adolescents from paediatric services to adult health services. Cochrane Database Syst Rev, 2016, 4: CD009794.
22. National Institute for Health and Care Excellence. NICE guideline: Transition from children’s to adult services - Scope. Available at: https://www.nice.org.uk/guidance/NG43/documents/transition-fromchildrens-to-adult-services-final-scope3 Accessed July 23, 2016.
23. Kreuzer M, Pr€ufe J, Bethe D, et al. The TRANSNephro-study examining a new transition model for post-kidney transplant adolescents and an analysis of the present health care: study protocol for a randomized controlled trial. Trials, 2014, 15: 505.
24. Hepburn CM, Cohen E, Bhawra J, et al. Health system strategies supporting transition to adult care. Arch Dis Child, 2015, 100(6): 559-564.
25. Brown L, Camfield P, Capers M, et al. The neurologists role in supporting transition to adult health care. Pediatrics, 2016, 87(8): 835-840.
26. Camfield P, Camfield C, Pohlmann-Eden B. Transition from pediatric to adult epilepsy care: a difficult process marked by medical and social crisis. Epilepsy Curr, 2012, 12(Suppl 3): 13-21.
27. Borlot F, Tellez-Zenteno JF, Allen A, et al. Epilepsy transition: challenges of caring for adults with childhood-onset seizures. Epilepsia, 2014, 55(10): 1659-1666.
28. Appleton R, Chadwick D, Sweeney A. Managing the teenager adult care with epilepsy: paediatric to. Seizure, 1997, 6(1): 27-30.
29. Carrizosa J, An I, Appleton R, et al. Models for transition clinics. Epilepsia, 2014, 55(Suppl 3): 46-51.
30. Jurasek L, Ray L, Quigley D. Development and implementation of an adolescent epilepsy transition clinic. J Neurosci Nurs, 2010, 42(4): 181-189.
31. Kuchenbuch M, Chemaly N, Chiron C, et al. Transition and transfer from pediatric to adult health care in epilepsy: A families’ survey on dravet syndrome. Epilepsy Behav, 2013, 29(1): 161-165.
32. Geerlings R, Aldenkamp A, Gottmer-Welschen L, et al. Evaluation of a multidisciplinary epilepsy transition clinic for adolescents. Eur J Paediatr Neurol, 2016, 20(3): 385-392.
33. Gall C, Kingsnorth S, Healy H. Growing up ready: a shared management approach. Phys Occup Ther Pediatr, 2006, 26(4): 89-103.
34. Kieckhefer G, Trahms C. Supporting development of children with chronic conditions: from compliance toward shared management.Pediatr Nurs, 2000, 26(4): 354-363.
35. Adult Healthcare Services Work Group. Transition to Adult Healthcare Services Work Group of the Provincial Council for Maternal and Child Health. Report of the Transition to Adult Healthcare Services Work Group.
36. Van Staa A, Van Der Stege HA, Jedeloo S, et al. Readiness to transfer to adult care of adolescents with chronic conditions: Exploration of associated factors. J Adolesc Heal, 2011, 48(3): 295-302.
37. While A, Forbes A, Ullman R, et al. Good practices that address continuity during transition from child to adult care: Synthesis of the evidence.Child Care Health Dev, 2004, 30(5): 439-452.
38. Got Transition. Available at: http://gottransition.org/researchpolicy/in dex.html. Accessed June 19, 2017.
39. Readiness Checklists. Available at: http://www.sickkids.ca/Good2Go/For-Youth-and-Families/Transition-Tools/Readiness-Checklists/Index.htm. Accessed June 19, 2017.
40. My Health Passport. Available at: http://www.sickkids.ca/Good2Go/For-Youth-and-Families/Transition-Tools/MyHealth-Passport/Index.html. Accessed June 19, 2017.
41. La Suite Necker. www.la-suite-necker.aphp.fr. Accessed June 19, 2017.
42. Wolfstadt J, Kaufman A, Levitin J, et al. The use and usefulness of my health passport: An online tool for the creation of a portable health summary. Int J Child Adolesc Health, 2010, 3: 499-506.
43. Bujoreanu IS, Ibeziako P, DeMaso DR. Psychiatric concerns in pediatric epilepsy. Child Adolesc Psychiatr Clin N Am, 2010, 19(2): 371-386.
44. Rudzinski LA, Meador KJ. Epilepsy and neuropsychological comorbidities. Contin Lifelong Learn Neurol, 2013, 19: 682-696.
45. Camfield P, Camfield C, Busiah K, et al. The transition from pediatric to adult care for youth with epilepsy: Basic biological, sociological, and psychological issues. Epilepsy Behav, 2017, 69: 170-176.
46. Nabbout R, Camfield C, Andrade DM, et al. Treatment issues for children with epilepsy transitioning to adult care. Epilepsy Behav, 2017, 69: 161-169.
47. Asato M, Manjunath R, Sheth RD, et al. Adolescent and caregiver experiences with epilepsy. J Child Neurol, 2009, 24(5): 562-571.
48. D’Angelo DV, Gilbert BC, Rochat RW, et al. Differences between mistimed and unwanted pregnancies among women who have live births. Perspect Sex Reprod Health, 2004, 36(5): 192-197.
49. Oulman E, Kim THM, Yunis K, et al. Prevalence and predictors of unintended pregnancy among women: an analysis of the canadian maternity experiences survey. BMC Pregnancy Childbirth, 2015, 15: 260.
50. Finer L, Zolna M. Shifts in intended and unintended pregnancies in the us. Am J Public Health, 2014, 104(Suppl 1): 43-48.
51. Greenberg M, Franklin G, Alter M. Practice parameter: Management issues for women with epilepsy (summary statement). Report of the quality standards subcommittee of the american academy of neurology. Epilepsia, 1998, 39(11): 1226-1231.
52. Hernandez-Diaz S, Smith CR, Shen A, et al. Comparative safety of antiepileptic drugs during pregnancy. Neurology, 2012, 78(21): 1692-1699.
53. Nashef L, Capovilla G, Camfield C, et al. Transition: Driving and exercise. Epilepsia, 2014, 55(Suppl 3): 41-45.
54. Baker G, Spector S, McGrath Y, et al. Impact of epilepsy in adolscence: Auk controlled study. Epilepsy Behav, 2005, 6(4): 552-562.
55. Reilly C, Atkinson P, Chin RF, et al. Symptoms of anxiety and depression in school-aged children with active epilepsy: A population-based study. Epilepsy Behav, 2015, 52(Pt A): 174-179.
56. Baca CB, Vickrey BG, Caplan R, et al. Psychiatric and medical comorbidity and quality of life outcomes in childhood-onset epilepsy. Pediatrics, 2011, 128(6): e1532-e1543.
57. Rubin IL, Merrick J, Greydanus DE, et al. Health care for people with intellectual and developmental disabilities across the lifespan, 3rd edn. Cham: Springer International Publishing Switzerland, 2016.
58. Devinsky O, Asato M, Camfield P, et al. Delivery of epilepsy care to adults with intellectual and developmental disabilities. Neurology, 2015, 85(17): 1512-1521.
59. Fasano A, Borlot F, Lang AE, et al. Antecollis and levodopa-responsive parkinsonism are late features of dravet syndrome. Neurology, 2014, 82(24): 2250-2251.
60. Glauser TA, Loddenkemper T. Management of childhood epilepsy. Continuum (Minneap Minn), 2013, 19(3): 656-681.
61. Reilly C, Menlove L, Fenton V, et al. Psychogenic nonepileptic seizures in children: A review. Epilepsia, 2013, 54(10): 1715-1724.
62. Glaze D, Percy A, Skinner S, et al. Epilepsy and the natural history of rett syndrome neurology. Neurology, 2010, 74(11): 909-912.
63. Glaze DG, Schultz RJ, Frost JD. Rett syndrome: Characterization of seizures versus non-seizures. Electroencephalogr Clin Neurophysiol, 1998, 106(1): 79-83.
64. Claes L, Del-Favero J, Ceulemans B, et al. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet, 2001, 68(6): 1327-1332.
65. Oliver KL, Lukic V, Freytag S, et al. In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery. Neurol Genet, 2016, 2(1): e51.
66. Mirzaa GM, Paciorkowski AR, Marsh ED, et al. CDKL5 and ARX mutations in males with early-onset epilepsy. Pediatr Neurol, 2013, 48(5): 367-377.
67. Carvill GL, Weckhuysen S, McMahon JM, et al. GABRA1 and STXBP1: Novel genetic copy of dravet syndrome. Neurology, 2014, 82(14): 1245-1253.
68. Suls A, Jaehn J, Kecskes A, et al. De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with dravet syndrome. Am J Hum Genet, 2013, 93(5): 967-975.
69. Martin H, Kim G, Pagnamenta A, et al. Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. Hum Mol Genet, 2014, 23(12): 2300-2311.
70. Miller D, Adam M, Aradhya S, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet, 2010, 86(5): 749-764.
71. Olson H, Shen Y, Avallone J, et al. Copy number variation plays an important role in clinical epilepsy. Ann Neurol, 2014, 75(6): 943-958.
72. Campbell I, Rao M, Arredondo S, et al. Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy. PLoS Genet, 2013, 9(9): e1003797.
73. Lal D, Ruppert AK, Trucks H, et al. Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies. PLoS Genet, 2015, 11(5): e1005226.
74. Mefford HC, Yendle SC, Hsu C, et al. Rare copy number variants are an important cause of epileptic encephalopathies. Ann Neurol, 2011, 70(6): 974-985.
75. Milligan CJ, Li M, Gazina EV, et al. KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine. Ann Neurol, 2014, 75(4): 581-590.
76. Petrovski S, Shashi V, Petrou S, et al. Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition. Mol Case Stud, 2015, 1(1): a000257.
77. Lingen M, Albers L, Borchers M, et al. Obtaining a genetic diagnosis in a child with disability: Impact on parental quality of life. Clin Genet, 2016, 89(2): 258-266.
78. Guerrini R, Dravet C, Genton P, et al. Lamotrigine and seizure aggravation in severe myoclonic epilepsy. Epilepsia, 1998, 39(5): 508-512.
79. Nascimento FA, Borlot F, Cossette P, et al. Two definite cases of sudden unexpected death in epilepsy in a family with a DEPDC5 mutation.Neurol Genet, 2015, 1(4): e28.
80. Goldman AM, Glasscock E, Yoo J, et al. Arrhythmia in heart and brain: KCNQ1 mutations link epilepsy and sudden unexplained death. Sci Transl Med, 2009, 1(2): 2ra6.
81. Klassen TL, Bomben VC, Patel A, et al. High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile. Epilepsia, 2014, 55(2): e6-e12.
82. Glasscock E, Yoo J, Chen TT, et al. Kv1.1 potassium channel deficiency reveals brain-driven cardiac dysfunction as a candidate mechanism for sudden unexplained death in epilepsy. J Neurosci, 2010, 30(15): 5167-5175.
83. Cheah CS, Yu F, Westenbroek RE, et al. Specific deletion of NaV1.1 sodium channels in inhibitory interneurons causes seizures and premature death in a mouse model of dravet syndrome. Proc Natl Acad Sci USA, 2012, 109(36): 14646-14651.
84. Wagnon JL, Korn MJ, Parent R, et al. Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy. Hum Mol Genet, 2015, 24(2): 506-515.
85. Leu C, Balestrini S, Maher B, et al. Genome-wide polygenic burden of rare deleterious variants in sudden unexpected death in epilepsy. EBio-Medicine, 2015, 2(9): 1063-1070.
86. Veeramah KR, O’Brien JE, Meisler MH, et al. De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. Am J Hum Genet, 2012, 90(3): 502-510.
87. Martinez CC, Pyzik PL, Kossoff EH. Discontinuing the ketogenic diet in seizure-free children: Recurrence and risk factors. Epilepsia, 2007, 48(1): 187-190.
88. Klepper J, Leiendecker B. Glut1 deficiency syndrome and novel ketogenic diets. J Child Neurol, 2013, 28(8): 1045-1048.
89. Klepper J. Glucose transporter deficiency syndrome (GLUT1DS) and the ketogenic diet. Epilepsia, 2008, 49(Suppl 8): 46-49.
90. Kossoff EH. International consensus statement on clinical implementation of the ketogenic diet: Agreement, flexibility, and controversy. Epilepsia, 2008, 49(Suppl 8): 11-13.
91. Klein P, Tyrlikova I, Mathews GC. Dietary treatment in adults with refractory epilepsy: A review. Neurology, 2014, 83(21): 1978-1985.
92. Nei M, Ngo L, Sirven JI, et al. Ketogenic diet in adolescents and adults with epilepsy. Seizure, 2014, 23(6): 439-442.
93. American Board of Medical Specialists. ABMS announces certification in new subspecialty: Adult congenital heart disease.
94. Baumgartner H, Bonhoeffer P, De Groot NMS, et al. ESC Guidelines for the management of grown-up congenital heart disease (new version2010). Eur Heart J, 2010, 31(23): 2915-2957.
95. Sable C, Foster E, Uzark K, et al. Best practices in managing transition to adulthood for adolescents with congenital heart disease: the transition process and medical and psychosocial issues. Circulation, 2011, 123(13): 1454-1485.

Previous Article
法国立体定向脑电图指南

Journal of Epilepsy

癫痫：从儿童至成年的医疗过渡—来自安大略省癫痫执行工作组的建议

Abstract Full text Figures/Tables Video References Cited by

Previous Article

Format

Content