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.
Subject(s)
Brain/abnormalities , Nervous System Diseases/diagnosis , Pituitary Diseases/diagnosis , Septo-Optic Dysplasia/diagnosis , Child , Child, Preschool , Female , Humans , Infant , Intellectual Disability/diagnosis , Intellectual Disability/etiology , Male , Nervous System Diseases/etiology , Oculomotor Nerve Diseases/diagnosis , Oculomotor Nerve Diseases/etiology , Optic Nerve Diseases/diagnosis , Optic Nerve Diseases/etiology , Pituitary Diseases/etiology , Pituitary Hormones/deficiency , Septo-Optic Dysplasia/classification , Septo-Optic Dysplasia/physiopathology , Vision Disorders/diagnosis , Vision Disorders/etiologyABSTRACT
AIM: Cerebral visual impairment (CVI) is a disorder caused by damage to the retrogeniculate visual pathways. Cerebral palsy (CP) and CVI share a common origin: 60 to 70% of children with CP also have CVI. We set out to describe visual dysfunction in children with CP. A further aim was to establish whether different types of CP are associated with different patterns of visual involvement. METHODS: A total of 129 patients (54 females, 75 males; mean age 4 y 6 mo, SD 3 y 5 mo; range 3 mo-15 y) with CP (51 with diplegia, 61 with tetraplegia, and 17 with hemiplegia; 62 [48%] of participants were able to walk) and CVI enrolled at the Centre of Child Neuro-ophthalmology (at the Department of Child Neurology and Psychiatry, IRCCS 'C. Mondino Institute of Neurology', University of Pavia) underwent an assessment protocol including neurological examination, developmental and/or cognitive assessment, neuro-ophthalmological evaluation including ophthalmological assessment, evaluation of visual acuity, contrast sensitivity, optokinetic nystagmus, visual field and stereopsis, and neuroradiological investigations. RESULTS: Visual dysfunction in diplegia was characterized mainly by refractive errors (75% of patients), strabismus (90%), abnormal saccadic movements (86%), and reduced visual acuity (82%). The participants with hemiplegia showed strabismus (71%) and refractive errors (88%); oculomotor involvement was less frequent (59%). This group had the largest percentage of patients with altered visual field (64%). Children with tetraplegia showed a severe neuro-ophthalmological profile, characterized by ocular abnormalities (98%), oculomotor dysfunction (100%), and reduced visual acuity (98%). INTERPRETATION: Neuro-ophthalmological disorders are one of the main symptoms in CP. Each clinical type of CP is associated with a distinct neuro-ophthalmological profile. Early and careful neuro-ophthalmological assessment of children with CP is essential for an accurate diagnosis and for personalized rehabilitation.
Subject(s)
Cerebral Palsy/physiopathology , Cognition Disorders/physiopathology , Ocular Motility Disorders/physiopathology , Vision Disorders/physiopathology , Adolescent , Cerebral Palsy/classification , Cerebral Palsy/complications , Child , Child, Preschool , Cognition Disorders/diagnosis , Cognition Disorders/etiology , Female , Humans , Male , Neuropsychological Tests , Ocular Motility Disorders/diagnosis , Ocular Motility Disorders/etiology , Vision Disorders/diagnosis , Vision Disorders/etiologyABSTRACT
This study documents the age-dependent development of visual object recognition abilities in 115 children aged 6 to 11 years, using a battery of neuropsychological tests based on Marrs model (Efron test, Warringtons Figure-Ground Test, Street Completion Test, Poppelreuter-Ghent Test, a selection of stimuli from the Birmingham Object Recognition Battery, a series of color photographs of objects presented from unusual perspectives or illuminated in unusual ways). The results suggest a maturation of complex visual perceptual abilities, possibly related to the development of the cerebral processes involved in object recognition, and could be the starting point for future investigations of these skills in impaired populations.
Subject(s)
Child Development , Neuropsychological Tests , Pattern Recognition, Visual , Age Factors , Aptitude , Child , Discrimination Learning , Female , Field Dependence-Independence , Humans , Imagination , Male , Orientation , Perceptual ClosureABSTRACT
Leber congenital amaurosis (LCA) is the most severe form of inherited retinal dystrophy that presents in infancy. LCA is both clinically and genetically heterogeneous. The aim of our study was to clarify the clinical aspects of LCA and to contribute to improved characterization of the disorder. We studied 40 children affected by LCA (mean age at first observation: 19 months, range: 8-50 months), who underwent a comprehensive evaluation that included: neurophthalmological evaluation, electroretinogram (ERG), and visual evoked potentials (VEPs), general and neurological examinations, developmental assessment using scales for visually impaired children, neuroradiological examinations, hepatic and renal function and metabolic investigations, brainstem auditory evoked potentials (BAEPs), EEG, and hand radiographs. Analyses of known LCA genes are ongoing. The subjects are still being followed up at 6-/12-month intervals. All the subjects fulfilled De Laey's criteria for LCA. The neurological examination was abnormal in 31 cases (hypotonia, ataxia with/without associated cerebellar signs). Cognitive development was normal in 24 cases, borderline in five, and subnormal in 11. Mild and nonspecific alterations on MRI were present in seven cases, and "molar tooth" sign in four; all the others had a normal neuroradiological picture. Among the subjects presenting with neurological signs, a subgroup (13 patients) emerged that was characterized by systemic (skin, kidney, liver) involvement. Our data confirm that LCA is a heterogeneous entity that can present as an isolated ocular manifestation, or in association with neurological and systemic abnormalities and support the need for a multidisciplinary approach to this entity and for genotype-phenotype studies.
