Neuroanatomy of holoprosencephaly as predictor of function

Beyond the face predicting the brain

L. L. Plawner, M. R. Delgado, V. S. Miller, E. B. Levey, S. L. Kinsman, A. J. Barkovich, E. M. Simon, N. J. Clegg, V. T. Sweet, E. E. Stashinko, Jin S. Hahn

Research output: Contribution to journalArticle

Abstract

Background: Despite advances in neuroimaging and molecular genetics of holoprosencephaly (HPE), the clinical spectrum of HPE has remained inadequately described. Objective: To better characterize the clinical features of HPE and identify specific neuroanatomic abnormalities that may be useful predictors of neurodevelopmental function. Methods: The authors evaluated 68 children with HPE in a multicenter, prospective study. Neuroimaging studies were assessed for the grade of HPE (lobar, semilobar, and alobar), the degree of nonseparation of the deep gray nuclei, and presence of dorsal cyst or cortical malformation. Results: In general, the severity of clinical problems and neurologic dysfunctions correlated with the degree of hemispheric nonseparation (grade of HPE). Nearly three-quarters of the patients had endocrinopathies, with all having at least diabetes insipidus. The severity of endocrine abnormalities correlated with the degree of hypothalamic nonseparation (p = 0.029). Seizures occurred in approximately half of the children with HPE. The presence of cortical malformations was associated with difficult-to-control seizures. The presence and degree of dystonia correlated with the degree of nonseparation of the caudate and lentiform nuclei and the grade of HPE (p <0.05). Hypotonia correlated with the grade of HPE (p <0.05). Mobility, upper extremity function, and language correlated with the degree of nonseparation of the caudate, lentiform and thalamic nuclei, and grade of HPE (p <0.01). Conclusions: Patients with HPE manifest a wide spectrum of clinical problems and neurologic dysfunction. The nature and severity of many of these problems can be predicted by specific neuroanatomic abnormalities found in HPE.

Original languageEnglish (US)
Pages (from-to)1058-1066
Number of pages9
JournalNeurology
Volume59
Issue number7
StatePublished - Oct 8 2002
Externally publishedYes

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Holoprosencephaly
Neuroanatomy
Brain
Corpus Striatum
Caudate Nucleus
Neurologic Manifestations
Neuroimaging
Seizures
Thalamic Nuclei
Diabetes Insipidus
Muscle Hypotonia
Dystonia

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Plawner, L. L., Delgado, M. R., Miller, V. S., Levey, E. B., Kinsman, S. L., Barkovich, A. J., ... Hahn, J. S. (2002). Neuroanatomy of holoprosencephaly as predictor of function: Beyond the face predicting the brain. Neurology, 59(7), 1058-1066.

Neuroanatomy of holoprosencephaly as predictor of function : Beyond the face predicting the brain. / Plawner, L. L.; Delgado, M. R.; Miller, V. S.; Levey, E. B.; Kinsman, S. L.; Barkovich, A. J.; Simon, E. M.; Clegg, N. J.; Sweet, V. T.; Stashinko, E. E.; Hahn, Jin S.

In: Neurology, Vol. 59, No. 7, 08.10.2002, p. 1058-1066.

Research output: Contribution to journalArticle

Plawner, LL, Delgado, MR, Miller, VS, Levey, EB, Kinsman, SL, Barkovich, AJ, Simon, EM, Clegg, NJ, Sweet, VT, Stashinko, EE & Hahn, JS 2002, 'Neuroanatomy of holoprosencephaly as predictor of function: Beyond the face predicting the brain', Neurology, vol. 59, no. 7, pp. 1058-1066.
Plawner LL, Delgado MR, Miller VS, Levey EB, Kinsman SL, Barkovich AJ et al. Neuroanatomy of holoprosencephaly as predictor of function: Beyond the face predicting the brain. Neurology. 2002 Oct 8;59(7):1058-1066.
Plawner, L. L. ; Delgado, M. R. ; Miller, V. S. ; Levey, E. B. ; Kinsman, S. L. ; Barkovich, A. J. ; Simon, E. M. ; Clegg, N. J. ; Sweet, V. T. ; Stashinko, E. E. ; Hahn, Jin S. / Neuroanatomy of holoprosencephaly as predictor of function : Beyond the face predicting the brain. In: Neurology. 2002 ; Vol. 59, No. 7. pp. 1058-1066.
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abstract = "Background: Despite advances in neuroimaging and molecular genetics of holoprosencephaly (HPE), the clinical spectrum of HPE has remained inadequately described. Objective: To better characterize the clinical features of HPE and identify specific neuroanatomic abnormalities that may be useful predictors of neurodevelopmental function. Methods: The authors evaluated 68 children with HPE in a multicenter, prospective study. Neuroimaging studies were assessed for the grade of HPE (lobar, semilobar, and alobar), the degree of nonseparation of the deep gray nuclei, and presence of dorsal cyst or cortical malformation. Results: In general, the severity of clinical problems and neurologic dysfunctions correlated with the degree of hemispheric nonseparation (grade of HPE). Nearly three-quarters of the patients had endocrinopathies, with all having at least diabetes insipidus. The severity of endocrine abnormalities correlated with the degree of hypothalamic nonseparation (p = 0.029). Seizures occurred in approximately half of the children with HPE. The presence of cortical malformations was associated with difficult-to-control seizures. The presence and degree of dystonia correlated with the degree of nonseparation of the caudate and lentiform nuclei and the grade of HPE (p <0.05). Hypotonia correlated with the grade of HPE (p <0.05). Mobility, upper extremity function, and language correlated with the degree of nonseparation of the caudate, lentiform and thalamic nuclei, and grade of HPE (p <0.01). Conclusions: Patients with HPE manifest a wide spectrum of clinical problems and neurologic dysfunction. The nature and severity of many of these problems can be predicted by specific neuroanatomic abnormalities found in HPE.",
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T1 - Neuroanatomy of holoprosencephaly as predictor of function

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AU - Plawner, L. L.

AU - Delgado, M. R.

AU - Miller, V. S.

AU - Levey, E. B.

AU - Kinsman, S. L.

AU - Barkovich, A. J.

AU - Simon, E. M.

AU - Clegg, N. J.

AU - Sweet, V. T.

AU - Stashinko, E. E.

AU - Hahn, Jin S.

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N2 - Background: Despite advances in neuroimaging and molecular genetics of holoprosencephaly (HPE), the clinical spectrum of HPE has remained inadequately described. Objective: To better characterize the clinical features of HPE and identify specific neuroanatomic abnormalities that may be useful predictors of neurodevelopmental function. Methods: The authors evaluated 68 children with HPE in a multicenter, prospective study. Neuroimaging studies were assessed for the grade of HPE (lobar, semilobar, and alobar), the degree of nonseparation of the deep gray nuclei, and presence of dorsal cyst or cortical malformation. Results: In general, the severity of clinical problems and neurologic dysfunctions correlated with the degree of hemispheric nonseparation (grade of HPE). Nearly three-quarters of the patients had endocrinopathies, with all having at least diabetes insipidus. The severity of endocrine abnormalities correlated with the degree of hypothalamic nonseparation (p = 0.029). Seizures occurred in approximately half of the children with HPE. The presence of cortical malformations was associated with difficult-to-control seizures. The presence and degree of dystonia correlated with the degree of nonseparation of the caudate and lentiform nuclei and the grade of HPE (p <0.05). Hypotonia correlated with the grade of HPE (p <0.05). Mobility, upper extremity function, and language correlated with the degree of nonseparation of the caudate, lentiform and thalamic nuclei, and grade of HPE (p <0.01). Conclusions: Patients with HPE manifest a wide spectrum of clinical problems and neurologic dysfunction. The nature and severity of many of these problems can be predicted by specific neuroanatomic abnormalities found in HPE.

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