Topic
Maldevelopment
About: Maldevelopment is a research topic. Over the lifetime, 225 publications have been published within this topic receiving 6220 citations.
Papers published on a yearly basis
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Papers
TL;DR: For example, this paper showed that autistic patients and patients with acquired cerebellar lesions were similarly impaired in a task requiring rapid and accurate shifts of attention between auditory and visual stimuli.
Abstract: MRI and autopsy evidence of early maldevelopment of cerebellar vermis and hemispheres in autism raise the question of how cerebellar maldevelopment contributes to the cognitive and social deficits characteristic of autism Compared with normal controls, autistic patients and patients with acquired cerebellar lesions were similarly impaired in a task requiring rapid and accurate shifts of attention between auditory and visual stimuli Neurophysiologic and behavioral evidence rules out motor dysfunction as the cause of this deficit These findings are consistent with the proposal that in autism cerebellar maldevelopment may contribute to an inability to execute rapid attention shifts, which in turn undermines social and cognitive development, and also with the proposal that the human cerebellum is involved in the coordination of rapid attention shifts in a fashion analogous to its role in the coordination of movement
651 citations
TL;DR: Möbius syndrome is more than a cranial nerve or nuclear developmental disorder, it is a syndrome of rhombencephalic maldevelopment involving predominantly motor nuclei and axons, as well as traversing long tracts.
Abstract: Objective: To investigate the variable clinical picture of Mobius syndrome (MIM no. 157900) and to further understand the pathogenesis of the disorder. Methods: A standardized questionnaire was submitted to 37 Dutch patients with Mobius syndrome. All underwent standardized neurologic examination with special attention to cranial nerve functions, motor skills, and facial and limb anomalies. Results: Of 37 patients with facial paresis, 97% had bilateral and 3% had unilateral ocular abduction weakness. Further analysis showed isolated abducens nerve palsy in 9%, a conjugated horizontal gaze paresis in 48%, features of Duane retraction syndrome in 34%, and congenital fibrosis of the extraocular muscles in 9%. Other signs included lingual involvement (77%), dysfunction of palate and pharynx (56%), general motor disability (88%), poor coordination (83%), and respiratory abnormalities (19%). Conclusion: Mobius syndrome is more than a cranial nerve or nuclear developmental disorder. It is a syndrome of rhombencephalic maldevelopment involving predominantly motor nuclei and axons, as well as traversing long tracts. The authors also noted gaze palsies, Duane retraction syndrome, feeding and respiratory problems, and poor motor development, suggesting a regional developmental disorder.
297 citations
TL;DR: The distribution, clinical features, treatment modalities, and some unusual syndromes associated with arachnoid cysts in children are discussed in this review.
229 citations
Montreal Neurological Institute and Hospital1, McGill University2, University of Cambridge3, University of Chicago4, University of Alabama at Birmingham5, Loyola University Chicago6, Université libre de Bruxelles7, University of Bologna8, University of Helsinki9, Pontifícia Universidade Católica do Rio Grande do Sul10, State University of Campinas11
TL;DR: It is concluded that FPP appears to be genetically heterogeneous, however, most of the families probably represent a third previously undescribed X‐linked syndrome of cortical maldevelopment.
Abstract: Two familial X-linked dominant syndromes of cortical maldevelopment have recently been described: double cortex/lissencephaly syndrome and bilateral periventricular nodular heterotopia. We report on 12 kindreds with familial perisylvian polymicrogyria (FPP) presenting at 10 centers, examine the clinical presentation in these familial cases, and propose a possible mode of inheritance. The clinical and radiological pattern was variable among the 42 patients, with clinical differences among the families and even within members of the same family. Pseudobulbar signs, cognitive deficits, epilepsy, and perisylvian abnormalities on imaging studies were not found in all patients. When present, they displayed a spectrum of severity. The only clear correlation in this study was between bilateral imaging findings and abnormal tongue movements and/or pronounced dysarthria. Most of the families provided evidence suggestive of, or compatible with, X-linked transmission. On the other hand, the pedigrees of 2 families ruled out X-linked inheritance. The most likely mode of inheritance for these 2 families was autosomal dominant with decreased penetrance; however, autosomal recessive inheritance with pseudodominance could not be ruled out in 1 family. We conclude that FPP appears to be genetically heterogeneous. However, most of the families probably represent a third previously undescribed X-linked syndrome of cortical maldevelopment.
154 citations
TL;DR: A case of associated maldevelopment of cranium and extremities with spinal osteoporosis with spinal oesophageal cancer is described and discussed.
Abstract: A case of associated maldevelopment of cranium and extremities with spinal osteoporosis is described and discussed.
149 citations
Related Topics (5)
Performance Metrics
| Year | Papers |
|---|---|
| 2025 | 5 |
| 2024 | 12 |
| 2023 | 24 |
| 2022 | 28 |
| 2021 | 4 |
| 2020 | 4 |