Genetic Counseling in Mitochondrial Disease

Neurotherapeutics

Volumn 10, Issue 2, 2013, Pages 243-250

  Vento, Jodie M ^a   Pappa, Belen ^b  

^a CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^b CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

Author keywords

Counseling; Genetic; Inheritance; Mitochondrial disease; Pediatric; Uncertainty

Indexed keywords

MITOCHONDRIAL DNA;

ALLELE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CEREBRAL PALSY; CHILD; EYE EXAMINATION; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC COUNSELING; HUMAN; MALE; MITOCHONDRIAL DNA DISORDER; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE ATROPHY; PRESCHOOL CHILD; PRIORITY JOURNAL; REVIEW; RISK ASSESSMENT; SCHOOL CHILD; VISUAL ACUITY; X CHROMOSOMAL INHERITANCE; X CHROMOSOME;

EID: 84876185686     PISSN: 19337213     EISSN: 18787479     Source Type: Journal    
DOI: 10.1007/s13311-012-0173-2     Document Type: Review

References (23)

1. Graham BH. Diagnostic challenges of mitochondrial disorders: complexities of two genomes. Methods Mol Biol 2012; 837: 35-46.
2. Stewart JL, Mishel MH. Uncertainty in childhood illness: A synthesis of the parent and child literature. Sch Inq Nurs Pract 2000; 14: 299-319.
3. Lipinski S, Lipinski MJ, Biesecker LG, Biesecker BB. Uncertainty and perceived personal control among parents of children with rare chromosome conditions: The role of genetic counseling. Am J Med Genet C Semin Med Genet 2006; 142C: 232-240.
4. Baker MR, Fisher KM, Whittaker RG, Griffiths PG, Yu-Wai-Man P, Chinnery PF. Subclinical multisystem neurologic disease in "pure" OPA1 autosomal dominant optic atrophy. Neurology 2011; 77: 1309-1312.
5. Finsterer J. Leigh and Leigh-like syndrome in children and adults. Ped Neurology 2008; 39: 223-235.
6. Lee IC, El-Hattab AW, Wang J, et al. SURF1-associated leigh syndrome: A case series and novel mutations. Hum Mutat 2012; 33: 1192-1200.
7. Potluri P, Davila A, Ruiz-Pesini E, Mishmar D, O'Hearn S, Hancock S, et al. A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease. Mol Genet Metab 2009; 96: 189-195.
8. Mayr JA, Bodamer O, Haack TB, Zimmermann FA, Madignier F, Prokisch H, et al. Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency. Mol Genet Metab 2011; 103: 358-361.
9. Sproule DM, Kaufmann P. Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome. Ann N Y Acad Sci 2008; 1142: 133-158.
10. Chinnery PF, Howell N, Lightowlers RN, Turnbull DM. MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring. Brain 1998; 121: 1889-1894.
11. Thorburn DR, Hans-Henrik DM. Mitochondrial disorders: Genetics, counseling, prenatal diagnosis and reproductive options. Am J Med Genet 2001; 106: 102-114.
12. Haas RH, Parikh S, Falk MJ, et al. Mitochondrial disease: a practical approach for primary care physicians. Pediatrics 2007; 120: 1326-1333.
13. Haas RH, Parikh S, Falk MJ, Saneto RP, Wolf NI, Darin N, et al. The in-depth evaluation of suspected mitochondrial disease. Mol Genet Metab 2008; 94: 16-37.
14. Bernier FP, Boneh A, Dennet X, Chow CW, Cleary MA, Thorburn DR. Diagnostic criteria for respiratory chain disorders in adults and children. Neurology 2002; 59: 1406-1411.
15. Lewis C, Skirton H, Jones R. Living without a diagnosis: the parental experience. Genet Test Mol Biomarkers 2010; 14: 807-815.
16. Graungaard AH, Skov L. Why do we need a diagnosis? A qualitative study of parents' experiences, coping and needs, when the newborn child is severely disabled, Child Care Health Dev 2006; 33: 296-307.
17. Rosenthal ET, Biesecker LG, Biesecker BB. Parental attitudes toward a diagnosis in children with unidentified multiple congenital anomaly syndromes. Am J Med Genet 2001; 103: 106-114.
18. Jessup DJ, Stein RK. Uncertainty and its relationship to the psychological and social correlates of chronic illness in children. Soc Sci Med 1985; 12: 993-999.
19. Grootenhius MA, Last BF. Predictors of parental emotional adjustment to childhood cancer. Psychooncology 1997; 6: 115-128.
20. Clarke-Steffen L. A model of the family transition to living with childhood cancer. Cancer Pract 1993; 1: 285-292.
21. Cohen MH. The unknown and the unknowable- Managing sustained uncertainty. West J Nurs Res 1993; 15: 77-96.
22. Rew L, Kaur M, McMillan A, Mackert M, Bonevac D. Systematic review of psychological benefits and harms of genetic testing, Issues Ment Health Nurs 2010; 31: 631-645.
23. Bredenoord AL, Dondorp W, Pennings G, De Die-Smulders CE, De Wert G. PGD to reduce reproductive risk: the case of mitochondrial DNA disorders. Hum Reprod 2008; 23: 2392-2401.