Specific Spatial Defect in a Child with Septo‐optic Dysplasia

Griffiths, Peter; Hunt, S.

doi:10.1111/j.1469-8749.1984.tb04459.x

Cited by 26 publications

(15 citation statements)

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“…Our understanding of the aetiology of PHD has advanced considerably in recent years, and a small but expanding number of genes are known to be important in the development of midline structures. Studies of a blind child with septo-optic dysplasia identified a specific spatial learning defect when compared to a blind control child, 10 and our observations could be linked to the abnormal development of midline structures. Abnormalities of brain development in PHD can also include structures other than those in the midline, and impaired perceptual organisational skills may be a manifestation of impaired visual processing in an abnormally developed brain.…”

Section: Discussionsupporting

confidence: 58%

The early childhood agenda in Australia

Oberklaid

2004

Archives of Disease in Childhood

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Aims: To assess cognitive function in school age children with congenital pituitary hormone deficiency (PHD). Methods: Ten children with PHD (aged 6.0-15.6 years, mean 11.5 years) and sibling controls (aged 8.7-14.9 years, mean 12.1 years) were assessed using the Wechsler Intelligence Scale for Children (WISC-III UK). Results: The patients' full scale IQ scores were all below average (mean 75, 95% CI 70-80), but were not significantly different to those of sibling controls (mean 82, 95% CI 75-89). There was no difference in verbal IQ between patients and siblings, but performance IQ was significantly reduced (mean 75, 95% CI 68-82 in patients; mean 88, 95% CI 80-96 in sibling controls). The reduced performance IQ reflected a poorer performance in tasks assessing perceptual organisational skills. Conclusions: Data suggest that children with PHD have an IQ that is below average when compared to the population norm and a reduced performance IQ when compared to sibling controls. This may reflect abnormal brain development or could be linked to the impact of hypoglycaemia or low thyroxine concentrations in early life. This information is of value when counselling parents and planning a child's care and education, although further, more extensive studies of patients and siblings are required.C hildren with congenital pituitary hormone deficiency (PHD) have quantitative and qualitative abnormalities of pituitary hormone production. Many have midline CNS abnormalities on magnetic resonance imaging (MRI) that can include an abnormal pituitary gland and/or hypothalamus, absent septum pellucidum, and optic nerve hypoplasia. This picture can be viewed as a spectrum of hormonal and associated midline abnormalities ranging from isolated growth hormone deficiency with normal MR images through to septo-optic dysplasia (absent septum pellucidum and optic nerve hypoplasia) with associated multiple pituitary hormone deficiency (MPHD).

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Section: Discussionsupporting

confidence: 58%

The early childhood agenda in Australia

Oberklaid

2004

Archives of Disease in Childhood

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“…Subsequent findings confirmed the high prevalence [31], including findings from a prospective study [8]. Developmental delay ranges from isolated focal defects to global delay [88, 89]. Using a standardized neuropsychological instrument and longitudinal follow-up until 5 years of age, developmental delays were identified in 71 % of children with ONH.…”

Section: Neuropsychological Outcomesmentioning

confidence: 71%

Optic Nerve Hypoplasia Syndrome: A Review of the Epidemiology and Clinical Associations

Garcia-Filion

Borchert

2012

Curr Treat Options Neurol

110

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Opinion statement Background Optic nerve hypoplasia (ONH) has developed into a leading cause of congenital blindness. The frequently associated features of hypopituitarism and absent septum pellucidum were felt to have embryonic linkage as “septo-optic dysplasia” or “de Morsier’s syndrome.” More recent studies have suggested these associations are independent of one another. This review provides an assessment of the historical and recent evidence linking neuroradiologic, endocrinologic and developmental morbidity in patients with ONH. The prenatal risk factors, heritability, and genetic mutations associated with ONH are described. Results Recognition of the critical association of ONH with hypopituitarism should be attributed to William Hoyt, not Georges de Morsier. De Morsier never described a case of ONH or recognized its association with hypopituitarism or missing septum pellucidum. Hypopituitarism is caused by hypothalamic dysfunction. This, and other more recently identified associations with ONH, such as developmental delay and autism, are independent of septum pellucidum development. Other common neuroradiographic associations such as corpus callosum hypoplasia, gyrus dysplasia, and cortical heterotopia may have prognostic significance. The predominant prenatal risk factors for ONH are primiparity and young maternal age. Presumed risk factors such as prenatal exposure to drugs and alcohol are not supported by scrutiny of the literature. Heritability and identified gene mutations in cases of ONH are rare. Conclusion Children with ONH require monitoring for many systemic, developmental, and even life-threatening problems independent of the severity of ONH and presence of brain malformations including abnormalities of the septum pellucidum. “Septo-optic dysplasia” and “de Morsier’s syndrome” are historically inaccurate and clinically misleading terms.

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“…[26][27][28][29] Overall delay occurred in 71% of our subjects, with motor delays being the most common (75%) and communication delays the least common (44%). Brodsky and Glasier 8 previously reported a positive association between delay and any neuroradiographic abnormality in a retrospective study of patients with severe cases of ONH.…”

Section: Discussionmentioning

confidence: 99%