Risk factors in children with optic nerve hypoplasia and septo-optic dysplasia.
Journal
Developmental medicine and child neurology
ISSN: 1469-8749
Titre abrégé: Dev Med Child Neurol
Pays: England
ID NLM: 0006761
Informations de publication
Date de publication:
Jan 2024
Jan 2024
Historique:
revised:
22
05
2023
received:
12
10
2022
accepted:
24
05
2023
medline:
4
12
2023
pubmed:
3
7
2023
entrez:
3
7
2023
Statut:
ppublish
Résumé
To identify the risk factors for optic nerve hypoplasia (ONH) and septo-optic dysplasia (SOD). A retrospective, population-based study with case-control design was undertaken using the Population Research Data Repository at the Manitoba Center for Health Policy in Manitoba, Canada. Cases were 111 patients (63 males, 48 females; age range 1-35 years [mean 11 years 6 months, SD 7 years 2 months]) with ONH and SOD diagnosed from 1990 to 2019, matched to 555 unrelated population-based controls (315 males, 240 females; age range 1-35 years [mean 11 years 6 months, SD 7 years 2 months]) on year of birth, sex, and area of residence. Additionally, 75 cases (46 males, 29 females; age range 2-35 years [mean 12 years 6 months, SD 7 years 2 months]) with ONH and SOD were matched one-on-one with sibling controls (40 males, 35 females; age range 0-33 years [mean 11 years 7 months, SD 7 years 10 months], the rest did not have siblings). Several antenatal maternal risk factors associated with ONH and SOD were tested for their association with case and control group membership using adjusted odds ratios (ORs) and 95% confidence intervals (CIs) from a multivariate conditional logistic regression model. The outcome was the risk of developing ONH and SOD. Maternal age at conception (OR = 0.91, 95% CI = 0.86-0.96), primigravida (OR = 3.39, 95% CI = 1.92-6.01), and smoking (OR = 2.86, 95% CI = 1.61-5.05) were independently associated with ONH and SOD in the cohort matched to unrelated controls (p < 0.001). In the sibling cohort, smoking was an important risk factor (OR = 3.65, 95% CI = 1.2-11.1, p = 0.02). Unmodifiable and modifiable antenatal maternal risk factors are associated with ONH and SOD. Our investigation suggests that several risk factors reported in previous studies may have been due to confounding bias and that maternal smoking during pregnancy is the main modifiable risk factor associated with ONH and SOD. Historically, many antenatal risk factors have been associated with optic nerve hypoplasia (ONH) and septo-optic dysplasia (SOD). Population-based data with matched controls for potential confounding bias are lacking. Young maternal age at conception, primigravida, and smoking during pregnancy are the main risk factors for ONH and SOD using a population-based, case-control design.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
106-116Subventions
Organisme : Children's Hospital Research Institute of Manitoba
Organisme : Fighting Blindness Canada
Organisme : Manitoba Center for Health Policy support fund
Informations de copyright
© 2023 Mac Keith Press.
Références
Garcia-Filion P, Borchert M. Optic nerve hypoplasia syndrome: a review of the epidemiology and clinical associations. Curr Treat Options Neurol 2013; 15(1): 78-89.
Khaper T, Bunge M, Clark I, et al. Increasing incidence of optic nerve hypoplasia/septo-optic dysplasia spectrum: Geographic clustering in Northern Canada. Paediatr Child Health 2017; 22(8): 445-53.
Mohney BG, Young RC, Diehl N. Incidence and associated endocrine and neurologic abnormalities of optic nerve hypoplasia. JAMA Ophthalmol 2013; 131(7): 898-902.
Patel L, McNally RJ, Harrison E, Lloyd IC, Clayton PE. Geographical distribution of optic nerve hypoplasia and septo-optic dysplasia in Northwest England. J Pediatr 2006; 148(1): 85-8.
Cemeroglu AP, Coulas T, Kleis L. Spectrum of clinical presentations and endocrinological findings of patients with septo-optic dysplasia: a retrospective study. J Pediatr Endocrinol Metab 2015; 28(9-10): 1057-63.
McNay DE, Turton JP, Kelberman D, et al. HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism. J Clin Endocrinol Metab 2007; 92(2): 691-7.
Garcia-Filion P, Borchert M. Prenatal determinants of optic nerve hypoplasia: review of suggested correlates and future focus. Surv Ophthalmol 2013; 58(6): 610-9.
Garne E, Rissmann A, Addor MC, et al. Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age - A EUROCAT study. Eur J Med Genet 2018; 61(9): 483-8.
Tornqvist K, Ericsson A, Källén B. Optic nerve hypoplasia: Risk factors and epidemiology. Acta Ophthalmol Scand 2002; 80(3): 300-4.
Garcia-Filion P, Fink C, Geffner ME, Borchert M. Optic nerve hypoplasia in North America: a re-appraisal of perinatal risk factors. Acta Ophthalmol 2010; 88(5): 527-34.
Murray PG, Paterson WF, Donaldson MD. Maternal age in patients with septo-optic dysplasia. J Pediatr Endocrinol Metab 2005; 18(5): 471-6.
Margalith D, Jan JE, McCormick AQ, Tze WJ, Lapointe J. Clinical spectrum of congenital optic nerve hypoplasia: review of 51 patients. Dev Med Child Neurol 1984; 26(3): 311-22.
Riedl S, Vosahlo J, Battelino T, et al. Refining clinical phenotypes in septo-optic dysplasia based on MRI findings. Eur J Pediatr 2008; 167(11): 1269-76.
Atapattu N, Ainsworth J, Willshaw H, et al. Septo-optic dysplasia: antenatal risk factors and clinical features in a regional study. Horm Res Paediatr 2012; 78(2): 81-7.
Haddad NG, Eugster EA. Hypopituitarism and neurodevelopmental abnormalities in relation to central nervous system structural defects in children with optic nerve hypoplasia. J Pediatr Endocrinol Metab 2005; 18(9): 853-8.
Elster AB, McAnarney ER. Maternal age re septo-optic dysplasia. J Pediatr 1979; 94(1): 162-3.
Lippe B, Kaplan SA, LaFranchi S. Septo-optic dysplasia and maternal age. Lancet 1979; 2(8133): 92-3.
Dominguez R, Aguirre Vila-Coro A, Slopis JM, Bohan TP. Brain and ocular abnormalities in infants with in utero exposure to cocaine and other street drugs. Am J Dis Child 1991; 145: 688-95.
Singal D, Brownell M, Chateau D, Ruth R, Katz LY. Neonatal and childhood neurodevelopmental, health and educational outcomes of children exposed to antidepressants and maternal depression during pregnancy: protocol for a retrospective population-based cohort study using linked administrative data. BMJ Open 2016; 6: e013293.
Jutte DP, Roos LL, Brownell MD. Administrative record linkage as a tool for public health research. Annu Rev Public Health 2011; 32: 91-108.
Coggon D, Rose G, Barker DJP. Epidemiology for the uninitiated, 4th edn. London: BMJ, 1997.
Vittinghoff E, Shiboski SC, Glidden DV, McCulloch CE. Regression Methods in Biostatistics: Linear, Logistic, Survival, and Repeated Measures Models. New York: Springer, 2005.
D'Onofrio BM, Lahey BB, Turkheimer E, Lichtenstein P. Critical need for family-based, quasi-experimental designs in integrating genetic and social science research. Am J Public Health 2013; 103(Suppl 1): S46-55.
Odendaal HJ, Brink LT, Nel DG, et al. Smoking and drinking habits of women in subsequent pregnancies after specific advice about the dangers of these exposures during pregnancy. S Afr Med J 2020; 110(11): 1100-4.
Solberg Y, Rosner M, Belkin M. The association between cigarette smoking and ocular diseases. Surv Ophthalmol 1998; 42(6): 535-47.
Lee SS, Mackey DA, Sanfilippo PG, et al. In utero exposure to smoking and alcohol, and passive smoking during childhood: Effect on the retinal nerve fibre layer in young adulthood. Ophthalmic Epidemiol 2022; 29(5): 507-14.
Ponsonby AL, Brown SA, Kearns LS, et al. The association between maternal smoking in pregnancy, other early life characteristics and childhood vision: the Twins Eye Study in Tasmania. Ophthalmic Epidemiol 2007; 14(6): 351-9.
Pueyo V, Güerri N, Oros D, et al. Effects of smoking during pregnancy on the optic nerve neurodevelopment. Early Hum Dev 2011; 87(5): 331-4.
Ashina H, Li XQ, Olsen EM, et al. Association of maternal smoking during pregnancy and birth weight with retinal nerve fiber layer thickness in children aged 11 or 12 years: The Copenhagen child cohort 2000 eye study. JAMA Ophthalmol 2017; 135(4): 331-7.
Fernandes M, Yang X, Li JY, Cheikh Ismail L. Smoking during pregnancy and vision difficulties in children: a systematic review. Acta Ophthalmol 2015; 93(3): 213-23.
Evereklioglu C, Ozkiriş A, Alaşehirli B, et al. Effect of gestational nicotine treatment on newborn rat retina: a histopathological and morphometric analysis. Ophthalmic Physiol Opt 2003; 23(6): 527-33.
Lange S, Probst C, Quere M, Rehm J, Popova S. Alcohol use, smoking and their co-occurrence during pregnancy among Canadian women, 2003 to 2011/12. Addict Behav 2015; 50: 102-9.