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Table 1 Demographic and clinical data of included studies

From: Neurodevelopmental impairments in children with septo-optic dysplasia spectrum conditions: a systematic review

First Author

Study design

Sample size (N)a

Reported conditionb

Sex (N)

Age range (years)

Optic nerve involvement (%)

Endocrine dysfunction (%)

Neuroimaging abnormalities (%)

Webb, [15]

Prospective

11

Isolated ONH

2 F, 9 M

1–11

7/11 (64) bilateral ONH, 4/11 (36) unilateral ONH

11/11 (100) normal to mild/moderate VI

0/11 endocrine dysfunction

0/11 midline brain abnormalities

Dahl, [16]

Population-based cross-sectional cohort

65

ONH

33 F, 32 M

6.1–25.5c

35/65 (54) bilateral ONH: 12/35 BCVA < 0.05 (blind), 1/35 BCVA 0.05—< 0.1 severe VI, 5/35 BCVA > 0.1 moderate VI, 17/35 mild to no VI

30/65 (46) unilateral ONH: 29/29 mild to no VI

–

–

Ek, [30]

Retrospective cohort

13

ONH

7 F, 6 M

4.5–13d

13/13 (100) bilateral ONH

All severe VIe

11/13 (85) hormonal deficiencies (GHD, TSH, ACTH, ADH, prolactin)

11/13 (85) midline brain malformations, 9/13 (69) absent SP, 7/13 (54) pituitary abnormalities

Fahnehjelm, [17]

Retrospective cohort

28

ONH

–

4.0–9.2d

28/28 bilateral ONHe

16/28 (57) hormonal deficiencies (e.g. GHD, multiple pituitary hormone deficiencies)

12/22 (55) small/absent/ectopic PP, 4/21 small AP, 14/26 (54) absent SP or CC, 9/26 (35) other cerebral findings

Fahnehjelm, [20]

Population-based cross-sectional

66

ONH

34 F, 32 M

0.6–19.4 d, f

22/40 (55) bilateral ONH, 18/40 (45) unilateral ONH

–

–

Garcia-Filion, [21]

Prospective

73

ONH

31 F, 42 M

5 (age at neurobehavioural assessment)

60/73 (82) bilateral ONH, 13/73 (18) unilateral ONH

57/72 (79) endocrine dysfunction (e.g. GHD, hypothyroidism)

25/65 (38) CCH, 25/65 (38) absent SP, 8/63 (13) pituitary gland abnormality, 9/65 (14) other malformations (e.g. schizencephaly)

Groenveld, [23]

Cohort

19

ONH

10 F, 9 M

5–14.5

19/19 (100) bilateral ONH

5/19 (26) near-total blindness, 7/19 (37) severe-profound VI, 7/19 (37) moderate VI

3/13 (23) intact SP endocrine dysfunction

No endocrine dysfunction in absent SP group

6/19 (32) absent SP, 13/19 (68) intact SP

Margalith, [6]

Retrospective cohort

51

Congenital ONH

25 F, 26 M

Up to 15 g

47/51 (92) bilateral ONH, 4/51 (8) unilateral ONH

Each eye separately: 11/102 (11) no light perception, 31/102 (30) light perception only, 51/102 (50) partial vision, 10/102 (10) normal acuity

19/21 (90) endocrine dysfunction

34/38 (90) neuroradiological abnormalities e.g. 13/26 (50) absent SP, 3/38 (8) agenesis of CC, 1/38 (3) schizencephaly

Rivkees, [24]

Prospective

19

ONH

–

2 < h

16/19 (84) bilateral ONH

11/19 (58) GHD, 6/19 (32) THD, 8/19 (42) AHD, 2/19 (11) DI

8/19 (42) CCH

Williams, [28]

Cross-sectional

7

ONH

3 F, 4 M

3.75–19.2

4/7 (57) bilateral ONH, 3/7 (43) unilateral ONH

0/7 endocrine dysfunction

7/7 (100) absent SP; 3/7 (43) thinning of corpus callosum

Williams, [29]

Cross-sectional

7

ONH

4 F, 3 M

5–9

2/7 (29) no light perception, 2/7 (29) light perception only, 3/7 (43) light perception in one eye

5/6 (83) endocrine dysfunction

3/7 (43) structural brain abnormality (e.g. CCH, absent SP)

Jutley-Neilson, [32]

Cross-sectional

41

ONH ‘spectrum’

18 F, 23 M

3–16

15/41 (37) mild-moderate VI, 12/41 (29) severe-profound VI, 14/41 (34) near-total visual loss

–

–

Jutley-Neilson, [31]

Cross-sectional

42

28 SOD, 14 ONH

18 F, 24 M

3–16

16/42 (38) mild-moderate VI, 12/42 (29) severe-profound VI, 14/42 (33) total vision loss

–

–

Parr, [33]

Retrospective

83

55 SOD, 28 ONH

45 F, 38 M

0.8–6.8

42/83 (51) profound VI, 41/83 (49) severe VI

–

28/83 (34) additional CNS abnormality (e.g. underdevelopment of pons, cerebral malformations, hydrocephalus, white matter abnormalities, and schizencephaly)

Griffiths, [22]

Case report

1

SOD

F

13.3

Bilateral ONH

Subnormal levels of GH, ACTH, cortisol deficiency

Absent SP

Severino, [18]

Retrospective case–control

38

SOD

17 F, 21 M

2 days–18.3i

27/38 (71) ONH

10/38 (26) endocrine dysfunction (e.g. GHD, TSH, ACTH deficiency)

21/38 (55) midbrain-hindbrain abnormalities, 14/38 (37) cortical malformations, 21/38 (55) brain stem abnormalities, 26/38 (68) pituitary abnormalities

Vawter-Lee, [26]

Retrospective

2

SOD

1 F, 1 M

0.7–1.75

1/2 (50) bilateral ONH

1/2 (50) adrenal insufficiency

2/2 (100) absent SP

Webb, [27]

Cross-sectional

6

SOD

2 F, 4 M

1–7

4/6 (67) bilateral ONH, 2/6 (33) unilateral ONH

2/6 (33) profound VI, 4/6 (67) severe VI

6/6 (100) endocrine deficiencies (e.g. GHD, ACTH, TSH)

6/6 (100) abnormalities (e.g. absent SP, small AP, thin CC)

Alt, [19]

Retrospective

17

1 SOD, 3 SOD-like, 13 SOD-plus

8 F, 9 M

 

16/17 (94) bilateral ONHj

17/17 (100) poor vision/blindness

11/17 (65) endocrine deficiencies (e.g. GHD, TSH)

13/17 (76) midline defect, 11/17 (65) SP agenesis, 2/17 (12) hypogenesis of CC, abnormal HP axis 9/17 (53), cortical malformations 13/17 (76)

Signorini, [25]

Retrospective

17

7 SOD, 3 SOD-like, 7 SOD-plus

8 F, 9 M

0.3–9.5

16/17 (94) bilateral ONH, 1/17 (6) unilateral ONH

7/17 (41) light perception only, 2/17 (12) very low vision, 7/17 (41) low vision, 1/17 (6) near normal

9/17 (53) endocrine deficiencies (all multiple pituitary hormone deficiencies)

14/17 (82) midline brain defects, 7/17 (41) cortical developmental malformations

  1. – Indicates not assessed, NR Not reported, BCVA Best corrected visual acuity, VI Visual impairment, GHD Growth hormone deficiency, TSH Thyroid stimulating hormone, ACTH Adrenocorticotropic hormone, ADH Antidiuretic hormone, SP Septum pellucidum, PP Posterior pituitary gland, AP Anterior pituitary gland, CC Corpus callosum, THD Thyroid hormone deficiency, AHD Adrenal hormone deficiency, DI Diabetes insipidus, CCH Corpus callosum hypoplasia, HP Hypothalamo-pituitary
  2. aSample size of target populations (ONH, SOD, SOD-plus) reported
  3. bCondition reported by the original authors has been detailed in the table, please refer to endocrine and neuroimaging columns
  4. cAge range reported for time of analysis, not age at assessment; median age 14.1 years
  5. dAge range at time of neurobehavioural assessment
  6. eOnly children with severe visual impairment referred to centre used for recruitment were included
  7. fChildren in clinical analysis < 18 years (n = 40)
  8. gOne participant 23 years of age at assessment
  9. hChildren aged 2 years and older; mean age 3.6 years
  10. iAge range reported at time of scan; not age at developmental assessment
  11. jDiagnosis using MRI—14 bilateral and 3 unilateral from clinical examination
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Molecular Autism

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