title: Septo-optic dysplasia in childhood: the neurological, cognitive and neuro-ophthalmological perspective.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Centre of Child Neuro-ophthalmology, Unit of Child Neurology and Psychiatry, C. Mondino National Institute of Neurology, IRCCS, Pavia, Italy. sabrina.signorini@mondino.it
authors.forename: Sabrina G
authors.initials: SG
authors.lastname: Signorini
authors.forename: Alice
authors.initials: A
authors.lastname: Decio
authors.forename: Cristina
authors.initials: C
authors.lastname: Fedeli
authors.forename: Antonella
authors.initials: A
authors.lastname: Luparia
authors.forename: Mauro
authors.initials: M
authors.lastname: Antonini
authors.forename: Chiara
authors.initials: C
authors.lastname: Bertone
authors.forename: Walter
authors.initials: W
authors.lastname: Misefari
authors.forename: Giulio
authors.initials: G
authors.lastname: Ruberto
authors.forename: Paolo E
authors.initials: PE
authors.lastname: Bianchi
authors.forename: Umberto
authors.initials: U
authors.lastname: Balottin
mesh_terms: D001921:Brain / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis / Q000209:etiology; D008297:Male; D009422:Nervous System Diseases / Q000175:diagnosis* / Q000209:etiology; D015840:Oculomotor Nerve Diseases / Q000175:diagnosis / Q000209:etiology; D009901:Optic Nerve Diseases / Q000175:diagnosis / Q000209:etiology; D010900:Pituitary Diseases / Q000175:diagnosis* / Q000209:etiology; D010907:Pituitary Hormones / Q000172:deficiency; D025962:Septo-Optic Dysplasia / Q000145:classification / Q000175:diagnosis* / Q000503:physiopathology; D014786:Vision Disorders / Q000175:diagnosis / Q000209:etiology
chemical_list: D010907:Pituitary Hormones