Septo-optic dysplasia in childhood: The neurological, cognitive and neuro-ophthalmological perspective

Sabrina G. Signorini, Alice Decio, Cristina Fedeli, Antonella Luparia, Mauro Antonini, Chiara Bertone, Walter Misefari, Giulio Ruberto, Paolo E. Bianchi, Umberto Balottin

Research output: Contribution to journalArticle

23 Citations (Scopus)

Abstract

Aim We set out to describe 17 patients with septo-optic dysplasia (SOD), focusing on the little-explored neurological, cognitive, and neuro-ophthalmological components. A further aim was to identify possible clinical correlations and phenotypic characteristics within the diagnostic spectrum. Method We collected clinical-instrumental data (from the history, general and neurological examination, developmental assessment, and neuro-ophthalmological, neuroradiological, neurophysiological, and endocrinological evaluations) on nine males and eight females (mean age 34.4mo, SD 31.6; range 4mo-9y 6mo) diagnosed with SOD who were referred to our Centre of Child Neuro-ophthalmology between 1999 and 2010. Results We observed a heterogeneous clinical spectrum characterized by nervous system, visual, and endocrine dysfunctions; optic nerve involvement was present in all 17 children, midline brain defects in 14, and cortical developmental malformations in seven. Developmental/cognitive delay and relational and communication difficulties were observed in eight and seven children, respectively, and reduced visual acuity and oculomotor dysfunction were observed in all. Pituitary hormone deficiencies were present in nine children. Interpretation Nervous system involvement emerged as a key feature of SOD. As part of a holistic approach to the disease, particular attention should be paid to this aspect. The emergence of new clinical correlations and correlations between clinical features and three SOD subtypes opens the way for better clarification of this disease and, therefore, more targeted diagnosis, follow-up, and care of affected children.

Original languageEnglish
Pages (from-to)1018-1024
Number of pages7
JournalDevelopmental Medicine and Child Neurology
Volume54
Issue number11
DOIs
Publication statusPublished - Nov 2012

Fingerprint

Septo-Optic Dysplasia
Nervous System
Aftercare
Pituitary Hormones
Neurologic Examination
Ophthalmology
Optic Nerve
Visual Acuity
History
Communication
Brain

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience

Cite this

Septo-optic dysplasia in childhood : The neurological, cognitive and neuro-ophthalmological perspective. / Signorini, Sabrina G.; Decio, Alice; Fedeli, Cristina; Luparia, Antonella; Antonini, Mauro; Bertone, Chiara; Misefari, Walter; Ruberto, Giulio; Bianchi, Paolo E.; Balottin, Umberto.

In: Developmental Medicine and Child Neurology, Vol. 54, No. 11, 11.2012, p. 1018-1024.

Research output: Contribution to journalArticle

@article{55e40af668b645509f1d0666ffe3b1a1,
title = "Septo-optic dysplasia in childhood: The neurological, cognitive and neuro-ophthalmological perspective",
abstract = "Aim We set out to describe 17 patients with septo-optic dysplasia (SOD), focusing on the little-explored neurological, cognitive, and neuro-ophthalmological components. A further aim was to identify possible clinical correlations and phenotypic characteristics within the diagnostic spectrum. Method We collected clinical-instrumental data (from the history, general and neurological examination, developmental assessment, and neuro-ophthalmological, neuroradiological, neurophysiological, and endocrinological evaluations) on nine males and eight females (mean age 34.4mo, SD 31.6; range 4mo-9y 6mo) diagnosed with SOD who were referred to our Centre of Child Neuro-ophthalmology between 1999 and 2010. Results We observed a heterogeneous clinical spectrum characterized by nervous system, visual, and endocrine dysfunctions; optic nerve involvement was present in all 17 children, midline brain defects in 14, and cortical developmental malformations in seven. Developmental/cognitive delay and relational and communication difficulties were observed in eight and seven children, respectively, and reduced visual acuity and oculomotor dysfunction were observed in all. Pituitary hormone deficiencies were present in nine children. Interpretation Nervous system involvement emerged as a key feature of SOD. As part of a holistic approach to the disease, particular attention should be paid to this aspect. The emergence of new clinical correlations and correlations between clinical features and three SOD subtypes opens the way for better clarification of this disease and, therefore, more targeted diagnosis, follow-up, and care of affected children.",
author = "Signorini, {Sabrina G.} and Alice Decio and Cristina Fedeli and Antonella Luparia and Mauro Antonini and Chiara Bertone and Walter Misefari and Giulio Ruberto and Bianchi, {Paolo E.} and Umberto Balottin",
year = "2012",
month = "11",
doi = "10.1111/j.1469-8749.2012.04404.x",
language = "English",
volume = "54",
pages = "1018--1024",
journal = "Developmental Medicine and Child Neurology",
issn = "0012-1622",
publisher = "Wiley-Blackwell",
number = "11",

}

TY - JOUR

T1 - Septo-optic dysplasia in childhood

T2 - The neurological, cognitive and neuro-ophthalmological perspective

AU - Signorini, Sabrina G.

AU - Decio, Alice

AU - Fedeli, Cristina

AU - Luparia, Antonella

AU - Antonini, Mauro

AU - Bertone, Chiara

AU - Misefari, Walter

AU - Ruberto, Giulio

AU - Bianchi, Paolo E.

AU - Balottin, Umberto

PY - 2012/11

Y1 - 2012/11

N2 - Aim We set out to describe 17 patients with septo-optic dysplasia (SOD), focusing on the little-explored neurological, cognitive, and neuro-ophthalmological components. A further aim was to identify possible clinical correlations and phenotypic characteristics within the diagnostic spectrum. Method We collected clinical-instrumental data (from the history, general and neurological examination, developmental assessment, and neuro-ophthalmological, neuroradiological, neurophysiological, and endocrinological evaluations) on nine males and eight females (mean age 34.4mo, SD 31.6; range 4mo-9y 6mo) diagnosed with SOD who were referred to our Centre of Child Neuro-ophthalmology between 1999 and 2010. Results We observed a heterogeneous clinical spectrum characterized by nervous system, visual, and endocrine dysfunctions; optic nerve involvement was present in all 17 children, midline brain defects in 14, and cortical developmental malformations in seven. Developmental/cognitive delay and relational and communication difficulties were observed in eight and seven children, respectively, and reduced visual acuity and oculomotor dysfunction were observed in all. Pituitary hormone deficiencies were present in nine children. Interpretation Nervous system involvement emerged as a key feature of SOD. As part of a holistic approach to the disease, particular attention should be paid to this aspect. The emergence of new clinical correlations and correlations between clinical features and three SOD subtypes opens the way for better clarification of this disease and, therefore, more targeted diagnosis, follow-up, and care of affected children.

AB - Aim We set out to describe 17 patients with septo-optic dysplasia (SOD), focusing on the little-explored neurological, cognitive, and neuro-ophthalmological components. A further aim was to identify possible clinical correlations and phenotypic characteristics within the diagnostic spectrum. Method We collected clinical-instrumental data (from the history, general and neurological examination, developmental assessment, and neuro-ophthalmological, neuroradiological, neurophysiological, and endocrinological evaluations) on nine males and eight females (mean age 34.4mo, SD 31.6; range 4mo-9y 6mo) diagnosed with SOD who were referred to our Centre of Child Neuro-ophthalmology between 1999 and 2010. Results We observed a heterogeneous clinical spectrum characterized by nervous system, visual, and endocrine dysfunctions; optic nerve involvement was present in all 17 children, midline brain defects in 14, and cortical developmental malformations in seven. Developmental/cognitive delay and relational and communication difficulties were observed in eight and seven children, respectively, and reduced visual acuity and oculomotor dysfunction were observed in all. Pituitary hormone deficiencies were present in nine children. Interpretation Nervous system involvement emerged as a key feature of SOD. As part of a holistic approach to the disease, particular attention should be paid to this aspect. The emergence of new clinical correlations and correlations between clinical features and three SOD subtypes opens the way for better clarification of this disease and, therefore, more targeted diagnosis, follow-up, and care of affected children.

UR - http://www.scopus.com/inward/record.url?scp=84867231679&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84867231679&partnerID=8YFLogxK

U2 - 10.1111/j.1469-8749.2012.04404.x

DO - 10.1111/j.1469-8749.2012.04404.x

M3 - Article

C2 - 22924461

AN - SCOPUS:84867231679

VL - 54

SP - 1018

EP - 1024

JO - Developmental Medicine and Child Neurology

JF - Developmental Medicine and Child Neurology

SN - 0012-1622

IS - 11

ER -