A Diagnostic Approach for Cerebral Palsy in the Genomic Era

NeuroMolecular Medicine

Volumn 16, Issue 4, 2014, Pages 821-844

  Lee, Ryan W ^a   Poretti, Andrea ^b   Cohen, Julie S ^c   Levey, Eric ^c   Gwynn, Hilary ^c   Johnston, Michael V ^b,d   Hoon, Alexander H ^b,c   Fatemi, Ali ^b,c,d  

^a UNIVERSITY OF HAWAII   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c KENNEDY KRIEGER INSTITUTE   (United States)

^d JOHNS HOPKINS UNIVERSITY   (United States)

Author keywords

Cerebral palsy; Masqueraders; Neurogenetic; Spastic, dyskinetic, and ataxic phenotypes

Indexed keywords

NEUROTRANSMITTER; AGENTS INTERACTING WITH TRANSMITTER, HORMONE OR DRUG RECEPTORS;

AGYRIA; AROMATIC ACID DECARBOXYLASE DEFICIENCY; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; CATECHOLAMINE METABOLISM; CEREBRAL PALSY; COENZYME Q10 DEFICIENCY; CONGENITAL DISORDER OF GLYCOSYLATION; DIAGNOSTIC TEST; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DOPA RESPONSIVE DYSTONIA SEGAWA DISEASE; DYSKINESIA; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; GLUCOSE TRANSPORTER TYPE 1 DEFICIENCY; GLUTARIC ACIDURIA TYPE 1 DISORDER; HAPPY PUPPET SYNDROME; HEREDITARY MOTOR SENSORY NEUROPATHY; HOLOPROSENCEPHALY; HUMAN; INFANTILE ONSET KRABBE DISEASE; JOUBERT SYNDROME; LYSOSOME STORAGE DISEASE; MECP2 DUPLICATION SYNDROME; MELAS SYNDROME; MOLECULAR DIAGNOSIS; MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY; MUTATIONAL ANALYSIS; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PELIZAEUS MERZBACHER DISEASE; PRIORITY JOURNAL; ADULT; ASPHYXIA NEONATORUM; BIRTH INJURIES; BRAIN; BRAIN DISEASES, METABOLIC; CASE REPORT; CELL MOTION; CHILD; CHROMOSOME DISORDERS; DEVELOPMENTAL DISABILITIES; DIAGNOSTIC ERROR; DIFFERENTIAL DIAGNOSIS; EMBRYOLOGY; EXOME; FEMALE; GENETIC DISEASES, INBORN; GENETICS; GENOMICS; GLOBUS PALLIDUS; HYPOXIA, BRAIN; LEUKOENCEPHALOPATHIES; LYSOSOMAL STORAGE DISEASES, NERVOUS SYSTEM; MALE; METABOLISM; MITOCHONDRIAL DISEASES; MOVEMENT DISORDERS; MUSCLE SPASTICITY; NERVOUS SYSTEM DISEASES; NEWBORN; PATHOLOGY; PRESCHOOL CHILD; STROKE; TISSUE MICROARRAY;

ADULT; ASPHYXIA NEONATORUM; BIRTH INJURIES; BRAIN; BRAIN DISEASES, METABOLIC; CELL MOVEMENT; CEREBRAL PALSY; CHILD; CHILD, PRESCHOOL; CHROMOSOME DISORDERS; DEVELOPMENTAL DISABILITIES; DIAGNOSIS, DIFFERENTIAL; DIAGNOSTIC ERRORS; EXOME; FEMALE; GENETIC DISEASES, INBORN; GENOME-WIDE ASSOCIATION STUDY; GENOMICS; GLOBUS PALLIDUS; HUMANS; HYPOXIA, BRAIN; INFANT, NEWBORN; LEUKOENCEPHALOPATHIES; LYSOSOMAL STORAGE DISEASES, NERVOUS SYSTEM; MALE; MITOCHONDRIAL DISEASES; MOLECULAR DIAGNOSTIC TECHNIQUES; MOVEMENT DISORDERS; MUSCLE SPASTICITY; NERVOUS SYSTEM DISEASES; NEUROTRANSMITTER AGENTS; STROKE; TISSUE ARRAY ANALYSIS;

EID: 84921937942     PISSN: 15351084     EISSN: 15591174     Source Type: Journal    
DOI: 10.1007/s12017-014-8331-9     Document Type: Article

References (107)

1. Accardo, P. J. C. A. J. (2008). Capute & Accardo’s neurodevelopmental disabilities in infancy and childhood. Baltimore: Paul H. Brookes Pub.
2. Ancel, P. Y., Livinec, F., Larroque, B., Marret, S., Arnaud, C., Pierrat, V., et al. (2006). Cerebral palsy among very preterm children in relation to gestational age and neonatal ultrasound abnormalities: The EPIPAGE cohort study. Pediatrics,117(3), 828–835. doi:10.1542/peds.2005-0091.
3. Andersen, G. L., Irgens, L. M., Haagaas, I., Skranes, J. S., Meberg, A. E., & Vik, T. (2008). Cerebral palsy in Norway: Prevalence, subtypes and severity. European Journal of Paediatric Neurology,12(1), 4–13. doi:10.1016/j.ejpn.2007.05.001.
4. Apetauerova, D., Schirmer, C. M., Shils, J. L., Zani, J., & Arle, J. E. (2010). Successful bilateral deep brain stimulation of the globus pallidus internus for persistent status dystonicus and generalized chorea. Journal of Neurosurgery,113(3), 634–638. doi:10.3171/2010.1.JNS091127.
5. Ashwal, S., Russman, B. S., Blasco, P. A., Miller, G., Sandler, A., Shevell, M., et al. (2004). Practice parameter: diagnostic assessment of the child with cerebral palsy: Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology,62(6), 851–863.
6. Bahr, O., Mader, I., Zschocke, J., Dichgans, J., & Schulz, J. B. (2002). Adult onset glutaric aciduria type I presenting with a leukoencephalopathy. Neurology,59(11), 1802–1804.
7. Barnes, M. P. J. G. R. (2008). Upper motor neurone syndrome and spasticity: Clinical management and neurophysiology. Cambridge: Cambridge University Press.
8. Bax, M., Tydeman, C., & Flodmark, O. (2006). Clinical and MRI correlates of cerebral palsy: The European Cerebral Palsy Study. JAMA,296(13), 1602–1608. doi:10.1001/jama.296.13.1602.
9. Benini, R., Ben Amor, I. M., & Shevell, M. I. (2012). Clinical clues to differentiating inherited and noninherited etiologies of childhood ataxias. Journal of Pediatrics,160(1), 152–157. doi:10.1016/j.jpeds.2011.06.029.
10. Benini, R., Dagenais, L., Shevell, M. I., & Registre de la Paralysie Cerebrale au Quebec, C. (2013). Normal imaging in patients with cerebral palsy: what does it tell us? Journal of Pediatric, 162(2), 369–374 e361. doi:10.1016/j.jpeds.2012.07.044.
11. Bennett, R. L., French, K. S., Resta, R. G., & Doyle, D. L. (2008). Standardized human pedigree nomenclature: Update and assessment of the recommendations of the National Society of Genetic Counselors. J Genet Couns,17(5), 424–433. doi:10.1007/s10897-008-9169-9.
12. Bick, D., & Dimmock, D. (2011). Whole exome and whole genome sequencing. Current Opinion in Pediatrics,23(6), 594–600. doi:10.1097/MOP.0b013e32834b20ec.
13. Chen, Y. C., Liang, W. C., Su, Y. N., & Jong, Y. J. (2013). Pelizaeus–Merzbacher disease, easily misdiagnosed as cerebral palsy: A report of a three-generation family. Pediatrics and Neonatology. doi:10.1016/j.pedneo.2012.12.006.
14. Christensen, E., Ribes, A., Merinero, B., & Zschocke, J. (2004). Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. Journal of Inherited Metabolic Disease,27(6), 861–868. doi:10.1023/B:BOLI.0000045770.93429.3c.
15. Christine, C. W., Starr, P. A., Larson, P. S., Eberling, J. L., Jagust, W. J., Hawkins, R. A., et al. (2009). Safety and tolerability of putaminal AADC gene therapy for Parkinson disease. Neurology,73(20), 1662–1669. doi:10.1212/WNL.0b013e3181c29356.
16. Dolk, H., Pattenden, S., & Johnson, A. (2001). Cerebral palsy, low birthweight and socio-economic deprivation: Inequalities in a major cause of childhood disability. Paediatric and Perinatal Epidemiology,15(4), 359–363.
17. Escolar, M. L., Poe, M. D., Provenzale, J. M., Richards, K. C., Allison, J., Wood, S., et al. (2005). Transplantation of umbilical-cord blood in babies with infantile Krabbe’s disease. New England Journal of Medicine,352(20), 2069–2081. doi:10.1056/NEJMoa042604.
18. Fink, J. K. (2013). Hereditary spastic paraplegia: Clinico-pathologic features and emerging molecular mechanisms. Acta Neuropathologica,126(3), 307–328. doi:10.1007/s00401-013-1115-8.
19. Folmes, C. D., Martinez-Fernandez, A., Perales-Clemente, E., Li, X., McDonald, A., Oglesbee, D., et al. (2013). Disease-causing mitochondrial heteroplasmy segregated within induced pluripotent stem cell clones derived from a patient with MELAS. Stem Cells,31(7), 1298–1308. doi:10.1002/stem.1389.
20. Friedman, J., Roze, E., Abdenur, J. E., Chang, R., Gasperini, S., Saletti, V., et al. (2012). Sepiapterin reductase deficiency: A treatable mimic of cerebral palsy. Annals of Neurology,71(4), 520–530. doi:10.1002/ana.22685.
21. Friesema, E. C., Visser, W. E., & Visser, T. J. (2010). Genetics and phenomics of thyroid hormone transport by MCT8. Molecular and Cellular Endocrinology,322(1–2), 107–113. doi:10.1016/j.mce.2010.01.016.
22. Goto, Y., Horai, S., Matsuoka, T., Koga, Y., Nihei, K., Kobayashi, M., et al. (1992). Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): A correlative study of the clinical features and mitochondrial DNA mutation. Neurology,42(3 Pt 1), 545–550.
23. Gropman, A. L. (2013). Neuroimaging in mitochondrial disorders. Neurotherapeutics,10(2), 273–285. doi:10.1007/s13311-012-0161-6.
24. Gupta, N., Henry, R. G., Strober, J., Kang, S. M., Lim, D. A., Bucci, M., et al. (2012). Neural stem cell engraftment and myelination in the human brain. Science Translational Medicine, 4(155), 155ra137. doi:10.1126/scitranslmed.3004373.
25. Haynes, R. L., Xu, G., Folkerth, R. D., Trachtenberg, F. L., Volpe, J. J., & Kinney, H. C. (2011). Potential neuronal repair in cerebral white matter injury in the human neonate. Pediatric Research,69(1), 62–67. doi:10.1203/PDR.0b013e3181ff3792.
26. Hedlund, G. L., Longo, N., & Pasquali, M. (2006). Glutaric acidemia type 1. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics,142C(2), 86–94. doi:10.1002/ajmg.c.30088.
27. Heinen, F. (2011). Metabolic testing in children with cerebral palsy: Less doing and more thinking? Developmental Medicine and Child Neurology,53, 198–199.
28. Himmelmann, K., Beckung, E., Hagberg, G., & Uvebrant, P. (2006). Gross and fine motor function and accompanying impairments in cerebral palsy. Developmental Medicine and Child Neurology,48(6), 417–423. doi:10.1017/S0012162206000922.
29. Himmelmann, K., McManus, V., Hagberg, G., Uvebrant, P., Krageloh-Mann, I., Cans, C., et al. (2009). Dyskinetic cerebral palsy in Europe: Trends in prevalence and severity. Archives of Disease in Childhood,94(12), 921–926. doi:10.1136/adc.2008.144014.
30. Himmelmann, K., & Uvebrant, P. (2011). Function and neuroimaging in cerebral palsy: A population-based study. Developmental Medicine and Child Neurology,53(6), 516–521. doi:10.1111/j.1469-8749.2011.03932.x.
31. Hobson, G. M., & Garbern, J. Y. (2012). Pelizaeus–Merzbacher disease, Pelizaeus–Merzbacher-like disease 1, and related hypomyelinating disorders. Seminars in Neurology,32(1), 62–67. doi:10.1055/s-0032-1306388.
32. Hoon, A. H, Jr, Belsito, K. M., & Nagae-Poetscher, L. M. (2003). Neuroimaging in spasticity and movement disorders. Journal of Child Neurology,18(Suppl 1), S25–S39.
33. Hoon, A. H, Jr, & Melhem, E. R. (2000). Neuroimaging: Applications in disorders of early brain development. Journal of Developmental and Behavioral Pediatrics,21(4), 291–302.
34. Hoon, A. H, Jr, Stashinko, E. E., Nagae, L. M., Lin, D. D., Keller, J., Bastian, A., et al. (2009). Sensory and motor deficits in children with cerebral palsy born preterm correlate with diffusion tensor imaging abnormalities in thalamocortical pathways. Developmental Medicine and Child Neurology,51(9), 697–704. doi:10.1111/j.1469-8749.2009.03306.x.
35. Hughes, I., & Newton, R. (1992). Genetic aspects of cerebral palsy. Developmental Medicine and Child Neurology,34(1), 80–86.
36. Hwu, W. L., Muramatsu, S., Tseng, S. H., Tzen, K. Y., Lee, N. C., Chien, Y. H., et al. (2012). Gene therapy for aromatic L-amino acid decarboxylase deficiency. Science Translational Medicine, 4(134), 134ra161. doi:10.1126/scitranslmed.3003640.
37. Hyland, K. (2007). Inherited disorders affecting dopamine and serotonin: Critical neurotransmitters derived from aromatic amino acids. The Journal of Nutrition, 137(6 Suppl 1), 1568S–1572S (discussion 1573S–1575S).
38. Imamura, S., Tachi, N., Tsuzuki, A., Sasaki, K., Hirano, S., Tanabe, C., et al. (1992). Ataxic cerebral palsy and brain imaging. No To Hattatsu,24(5), 441–448.
39. Kim, J. P., Chang, W. S., & Chang, J. W. (2011). Treatment of secondary dystonia with a combined stereotactic procedure: Long-term surgical outcomes. Acta Neurochirurgica (Wien), 153(12), 2319–2327 (discussion 2328). doi:10.1007/s00701-011-1147-6.
40. Kim, J. P., Chang, W. S., Cho, S. R., & Chang, J. W. (2012). The effect of bilateral globus pallidus internus deep brain stimulation plus ventralis oralis thalamotomy on patients with cerebral palsy. Stereotactic and Functional Neurosurgery,90(5), 292–299. doi:10.1159/000338093.
41. Kirton, A., & deVeber, G. (2009). Advances in perinatal ischemic stroke. Pediatric Neurology,40(3), 205–214. doi:10.1016/j.pediatrneurol.2008.09.018.
42. Klepper, J., Diefenbach, S., Kohlschutter, A., & Voit, T. (2004). Effects of the ketogenic diet in the glucose transporter 1 deficiency syndrome. Prostaglandins Leukotrienes and Essential Fatty Acids,70(3), 321–327. doi:10.1016/j.plefa.2003.07.004.
43. Koman, L. A., Smith, B. P., & Shilt, J. S. (2004). Cerebral palsy. Lancet,363(9421), 1619–1631. doi:10.1016/S0140-6736(04)16207-7.
44. Krageloh-Mann, I., & Cans, C. (2009). Cerebral palsy update. Brain Development,31(7), 537–544. doi:10.1016/j.braindev.2009.03.009.
45. Krageloh-Mann, I., & Horber, V. (2007). The role of magnetic resonance imaging in elucidating the pathogenesis of cerebral palsy: A systematic review. Developmental Medicine and Child Neurology,49(2), 144–151. doi:10.1111/j.1469-8749.2007.00144.x.
46. Kruer, M. C., & Boddaert, N. (2012). Neurodegeneration with brain iron accumulation: A diagnostic algorithm. Semin Pediatr Neurol,19(2), 67–74. doi:10.1016/j.spen.2012.04.001.
47. Kuban, K. C., & Leviton, A. (1994). Cerebral palsy. New England Journal of Medicine,330(3), 188–195. doi:10.1056/NEJM199401203300308.
48. Kuzniecky, R., Andermann, F., Tampieri, D., Melanson, D., Olivier, A., & Leppik, I. (1989). Bilateral central macrogyria: epilepsy, pseudobulbar palsy, and mental retardation—a recognizable neuronal migration disorder. Ann Neurol,25(6), 547–554. doi:10.1002/ana.410250604.
49. Lamperti, C., Naini, A., Hirano, M., De Vivo, D. C., Bertini, E., Servidei, S., et al. (2003). Cerebellar ataxia and coenzyme Q10 deficiency. Neurology,60(7), 1206–1208.
50. Leen, W. G., Klepper, J., Verbeek, M. M., Leferink, M., Hofste, T., van Engelen, B. G., et al. (2010). Glucose transporter-1 deficiency syndrome: The expanding clinical and genetic spectrum of a treatable disorder. Brain,133(Pt 3), 655–670. doi:10.1093/brain/awp336.
51. Leonard, J. M., Cozens, A. L., Reid, S. M., Fahey, M. C., Ditchfield, M. R., & Reddihough, D. S. (2011). Should children with cerebral palsy and normal imaging undergo testing for inherited metabolic disorders? Developmental Medicine and Child Neurology,53, 226–232.
52. Lequin, M. H., & Barkovich, A. J. (1999). Current concepts of cerebral malformation syndromes. Current Opinion in Pediatrics,11(6), 492–496.
53. Levey, E. B., Stashinko, E., Clegg, N. J., & Delgado, M. R. (2010). Management of children with holoprosencephaly. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics,154C(1), 183–190. doi:10.1002/ajmg.c.30254.
54. Liu, J. S. (2011). Molecular genetics of neuronal migration disorders. Current Neurology and Neuroscience Reports,11(2), 171–178. doi:10.1007/s11910-010-0176-5.
55. Liu, J. S., Schubert, C. R., Fu, X., Fourniol, F. J., Jaiswal, J. K., Houdusse, A., et al. (2012). Molecular basis for specific regulation of neuronal kinesin-3 motors by doublecortin family proteins. Molecular Cell,47(5), 707–721. doi:10.1016/j.molcel.2012.06.025.
56. Lv, Y., Cao, L. H., Pang, H., Lu, L. N., Li, J. L., Fu, Y., et al. (2012). Combined genetic and imaging diagnosis for two large Chinese families affected with Pelizaeus–Merzbacher disease. Genetics and Molecular Research,11(3), 2035–2044. doi:10.4238/2012.August.6.7.
57. Manning, M., Hudgins, L., Professional, P., & Guidelines, C. (2010). Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med,12(11), 742–745. doi:10.1097/GIM.0b013e3181f8baad.
58. Marks, W. A., Honeycutt, J., Acosta, F, Jr, Reed, M., Bailey, L., Pomykal, A., et al. (2011). Dystonia due to cerebral palsy responds to deep brain stimulation of the globus pallidus internus. Movement Disorders,26(9), 1748–1751. doi:10.1002/mds.23723.
59. McFarland, R., Taylor, R. W., & Turnbull, D. M. (2010). A neurological perspective on mitochondrial disease. Lancet Neurology,9(8), 829–840. doi:10.1016/S1474-4422(10)70116-2.
60. McHale, D. P., Jackson, A. P., Campbell, L. M. I., Corry, P., Woods, C. G., et al. (2000). A gene for ataxic cerebral palsy maps to chromosome 9p12-q12. European Journal of Human Genetics,8(4), 267–272. doi:10.1038/sj.ejhg.5200445.
61. Miller, D. T., Adam, M. P., Aradhya, S., Biesecker, L. G., Brothman, A. R., Carter, N. P., et al. (2010). Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. American Journal of Human Genetics,86(5), 749–764. doi:10.1016/j.ajhg.2010.04.006.
62. Mink, J. W., & Zinner, S. H. (2010). Movement disorders ii: Chorea, dystonia, myoclonus, and tremor. Pediatric Reviews, 31(7), 287–294 (quiz 295). doi:10.1542/pir.31-7-287.
63. Montini, G., Malaventura, C., & Salviati, L. (2008). Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency. New England Journal of Medicine,358(26), 2849–2850. doi:10.1056/NEJMc0800582.
64. Morton, D. H., Bennett, M. J., Seargeant, L. E., Nichter, C. A., & Kelley, R. I. (1991). Glutaric aciduria type I: A common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania. American Journal of Medical Genetics,41(1), 89–95. doi:10.1002/ajmg.1320410122.
65. Msall, M. E., Limperopoulos, C., & Park, J. J. (2009). Neuroimaging and cerebral palsy in children. Minerva Pediatrica,61(4), 415–424.
66. Muramatsu, S., Fujimoto, K., Kato, S., Mizukami, H., Asari, S., Ikeguchi, K., et al. (2010). A phase I study of aromatic L-amino acid decarboxylase gene therapy for Parkinson’s disease. Molecular Therapy,18(9), 1731–1735. doi:10.1038/mt.2010.135.
67. National Society of Genetic Counselors’ Definition Task, F., Resta, R., Biesecker, B. B., Bennett, R. L., Blum, S., Hahn, S. E., et al. (2006). A new definition of genetic counseling: National Society of Genetic Counselors’ Task Force report. Journal of Genetic Counseling, 15(2), 77–83. doi:10.1007/s10897-005-9014-3.
68. Nelson, K. B., & Chang, T. (2008). Is cerebral palsy preventable? Current Opinion in Neurology,21(2), 129–135. doi:10.1097/WCO.0b013e3282f4958b.
69. Neul, J. L., Kaufmann, W. E., Glaze, D. G., Christodoulou, J., Clarke, A. J., Bahi-Buisson, N., et al. (2010). Rett syndrome: Revised diagnostic criteria and nomenclature. Annals of Neurology,68(6), 944–950. doi:10.1002/ana.22124.
70. Olsen, P., Paakko, E., Vainionpaa, L., Pyhtinen, J., & Jarvelin, M. R. (1997). Magnetic resonance imaging of periventricular leukomalacia and its clinical correlation in children. Annals of Neurology,41(6), 754–761. doi:10.1002/ana.410410611.
71. Orioli, I. M., & Castilla, E. E. (2010). Epidemiology of holoprosencephaly: Prevalence and risk factors. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics,154C(1), 13–21. doi:10.1002/ajmg.c.30233.
72. Paneth, N. (1986). Birth and the origins of cerebral palsy. New England Journal of Medicine,315(2), 124–126. doi:10.1056/NEJM198607103150209.
73. Papile, L. A., Burstein, J., Burstein, R., & Koffler, H. (1978). Incidence and evolution of subependymal and intraventricular hemorrhage: A study of infants with birth weights less than 1,500 gm. Journal of Pediatrics,92(4), 529–534.
74. Pleacher, M. D., Vohr, B. R., Katz, K. H., Ment, L. R., & Allan, W. C. (2004). An evidence-based approach to predicting low IQ in very preterm infants from the neurological examination: Outcome data from the Indomethacin Intraventricular Hemorrhage Prevention Trial. Pediatrics,113(2), 416–419.
75. Prevention, C. F. D. C. A. (2012). http://www.cdc.gov/ncbddd/cp/data.html. Accessed September 1, 2012.
76. Przekop, A., & Sanger, T. D. (2011). Birth-related syndromes of athetosis and kernicterus. Handbook of Clinical Neurology,100, 387–395. doi:10.1016/B978-0-444-52014-2.00030-6.
77. Rabbani, B., Tekin, M., & Mahdieh, N. (2014). The promise of whole-exome sequencing in medical genetics. Journal of Human Genetics,59(1), 5–15. doi:10.1038/jhg.2013.114.
78. Rankin, J., Cans, C., Garne, E., Colver, A., Dolk, H., Uldall, P., et al. (2010). Congenital anomalies in children with cerebral palsy: A population-based record linkage study. Developmental Medicine and Child Neurology,52(4), 345–351. doi:10.1111/j.1469-8749.2009.03415.x.
79. Reiner, O., Carrozzo, R., Shen, Y., Wehnert, M., Faustinella, F., Dobyns, W. B., et al. (1993). Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature,364(6439), 717–721. doi:10.1038/364717a0.
80. Romani, M., Micalizzi, A., & Valente, E. M. (2013). Joubert syndrome: Congenital cerebellar ataxia with the molar tooth. Lancet Neurology,12(9), 894–905. doi:10.1016/S1474-4422(13)70136-4.
81. Rosenfeld, J. A., Ballif, B. C., Martin, D. M., Aylsworth, A. S., Bejjani, B. A., Torchia, B. S., et al. (2010). Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE. Human Genetics,127(4), 421–440. doi:10.1007/s00439-009-0778-7.
82. Saher, G., Rudolphi, F., Corthals, K., Ruhwedel, T., Schmidt, K. F., Lowel, S., et al. (2012). Therapy of Pelizaeus–Merzbacher disease in mice by feeding a cholesterol-enriched diet. Nature Medicine,18(7), 1130–1135. doi:10.1038/nm.2833.
83. Saint Hilaire, M. H., Burke, R. E., Bressman, S. B., Brin, M. F., & Fahn, S. (1991). Delayed-onset dystonia due to perinatal or early childhood asphyxia. Neurology, 41(2 (Pt 1)), 216–222.
84. Sarkar, S., Bhagat, I., Dechert, R., Schumacher, R. E., & Donn, S. M. (2009). Severe intraventricular hemorrhage in preterm infants: comparison of risk factors and short-term neonatal morbidities between grade 3 and grade 4 intraventricular hemorrhage. American Journal of Perinatology,26(6), 419–424. doi:10.1055/s-0029-1214237.
85. Schwartz, C. E., & Stevenson, R. E. (2007). The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome. Best Practice & Research. Clinical Endocrinology & Metabolism,21(2), 307–321. doi:10.1016/j.beem.2007.03.009.
86. Shevell, M. I., Dagenais, L., Hall, N., & Consortium, R. (2009). Comorbidities in cerebral palsy and their relationship to neurologic subtype and GMFCS level. Neurology, 72(24), 2090–2096. doi:10.1212/WNL.0b013e3181aa537b.
87. Shevell, M. I., Majnemer, A., & Morin, I. (2003). Etiologic yield of cerebral palsy: A contemporary case series. Pediatric Neurology,28(5), 352–359.
88. Smithers-Sheedy, H., Badawi, N., Blair, E., Cans, C., Himmelmann, K., Krägeloh-Mann, I., et al. (2013). What constitutes cerebral palsy in the twenty-first century? Developmental Medicine and Child Neurology,. doi:10.1111/dmcn.12262.
89. Spalice, A., Parisi, P., Nicita, F., Pizzardi, G., Del Balzo, F., & Iannetti, P. (2009). Neuronal migration disorders: Clinical, neuroradiologic and genetics aspects. Acta Paediatrica,98(3), 421–433. doi:10.1111/j.1651-2227.2008.01160.x.
90. Sparks, S. E. K. D. (2012). Congenital disorders of glycosylation overview. In R. A. Pagon, M. P. Adam, T. D. Bird, C. R. Dolan, C. T. Fong, & K. Stephens (Eds.), GeneReviews. Seattle, WA: University of Washington, Seattle.
91. Srivastava, S., Cohen, J. S., Vernon, H., Barañano, K., McClellan, R., Jamal, L. et al. (2014) Clinical whole exome sequencing in child neurology practice. Annals of Neurology. doi:10.1002/ana.24251.
92. Stanley, F. J. B. E. A. E. D. (2000). Cerebral palsies: Epidemiology and causal pathways. London: Cambridge University Press.
93. Steinlin, M., Styger, M., & Boltshauser, E. (1999). Cognitive impairments in patients with congenital nonprogressive cerebellar ataxia. Neurology,53(5), 966–973.
94. Stolp, H., Neuhaus, A., Sundramoorthi, R., & Molnar, Z. (2012). The long and the short of it: Gene and environment interactions during early cortical development and consequences for long-term neurological disease. Frontiers in Psychiatry,3, 50. doi:10.3389/fpsyt.2012.00050.
95. Strauss, K. A., Puffenberger, E. G., Robinson, D. L., & Morton, D. H. (2003). Type I glutaric aciduria, part 1: Natural history of 77 patients. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics,121C(1), 38–52. doi:10.1002/ajmg.c.20007.
96. Surveillance of Cerebral Palsy in E (2000). Surveillance of cerebral palsy in Europe: A collaboration of cerebral palsy surveys and registers. Surveillance of Cerebral Palsy in Europe (SCPE). Developmental Medicine and Child Neurology, 42(12), 816–824.
97. The Definition and Classification of Cerebral Palsy (2007). Developmental Medicine and Child Neurology, 49(s109), 1–44, doi:10.1111/j.1469-8749.2007.00001.x.
98. Towsley, K., Shevell, M. I., Dagenais, L., & Consortium, R. (2011). Population-based study of neuroimaging findings in children with cerebral palsy. European Journal of Paediatric Neurology, 15(1), 29–35. doi:10.1016/j.ejpn.2010.07.005.
99. Vidailhet, M., Yelnik, J., Lagrange, C., Fraix, V., Grabli, D., Thobois, S., et al. (2009). Bilateral pallidal deep brain stimulation for the treatment of patients with dystonia-choreoathetosis cerebral palsy: A prospective pilot study. Lancet Neurology,8(8), 709–717. doi:10.1016/S1474-4422(09)70151-6.
100. Vincer, M. J., Allen, A. C., Joseph, K. S., Stinson, D. A., Scott, H., & Wood, E. (2006). Increasing prevalence of cerebral palsy among very preterm infants: A population-based study. Pediatrics,118(6), e1621–e1626. doi:10.1542/peds.2006-1522.
101. Whitehouse, W. P. (2011). Metabolic testing in children with cerebral palsy: Yield could be up to 20%. Developmental Medicine and Child Neurology, 53(12), 1160 (author reply 1161).
102. Williams, C. A., Driscoll, D. J., & Dagli, A. I. (2010). Clinical and genetic aspects of Angelman syndrome. Genetic Medicine,12(7), 385–395. doi:10.1097/GIM.0b013e3181def138.
103. Wu, Y. W., Croen, L. A., Shah, S. J., Newman, T. B., & Najjar, D. V. (2006). Cerebral palsy in a term population: Risk factors and neuroimaging findings. Pediatrics,118(2), 690–697. doi:10.1542/peds.2006-0278.
104. Yagasaki, H., Kato, M., Ishige, M., Shichino, H., Chin, M., & Mugishima, H. (2011). Successful cord blood transplantation in a 42-day-old boy with infantile Krabbe disease. International Journal of Hematology,93(4), 566–568. doi:10.1007/s12185-011-0835-6.
105. Yeargin-Allsopp, M., Braun, K. V. N., Doernberg, N. S., Benedict, R. E., Kirby, R. S., & Durkin, M. S. (2008). Prevalence of cerebral palsy in 8-year-old children in three areas of the United States in 2002: A multisite collaboration. Pediatrics,121(3), 547–554.
106. Zung, A., Visser, T. J., Uitterlinden, A. G., Rivadeneira, F., & Friesema, E. C. (2011). A child with a deletion in the monocarboxylate transporter 8 gene: 7-year follow-up and effects of thyroid hormone treatment. European Journal of Endocrinology,165(5), 823–830. doi:10.1530/EJE-11-0358.
107. Zwagerman, N. T., & Richardson, R. M. (2012). Gene therapy for aromatic L-amino acid decarboxylase deficiency. Neurosurgery,71(4), N10–N12. doi:10.1227/01.neu.0000419706.72039.5c.