Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13

Dobyns, William B.; Reiner, Orly; Carrozzo, Romeo; Ledbetter, David H.

doi:10.1001/jama.270.23.2838

Cited by 243 publications

(187 citation statements)

References 17 publications

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“…It should also be noted that the responses required on the Vocal Communication Subscale are more motor-based than the range of responses accepted for the other subscales and, consequently, this scale may have been less impacted by seizure activity than the more cognitively based auditory and visual tasks. As mentioned earlier, the presence of seizures might be due to the degree of expression of the mediolateral gradient in the abnormal cortical architecture in holoprosencephaly in which the medial parts of the forebrain are more disorganized than the lateral parts [5,7,25]. Nonetheless, more than one third (35%) of the participants in the present study and almost one half (49%) of Plawner et al's [3] subjects had at least one seizure.…”

Section: Discussionsupporting

confidence: 44%

Links Between Abnormal Brain Structure and Cognition in Holoprosencephaly

Roesler

Paterson

Flax

et al. 2006

Pediatric Neurology

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Converging information on medical issues, motor ability, and cognitive outcomes is essential when addressing long-term clinical management in children with holoprosencephaly. This study considered whether adding more informative structural indices to classic holoprosencephaly categories would increase prediction of cognitive outcomes. Forty-two children with holoprosencephaly were examined to determine the association of deep gray nuclei abnormalities with cognitive abilities and the effect of motor skill deficits on cognitive performance. Additionally, a cognitive profile was described using the Carter Neurocognitive Assessment, an experimental diagnostic instrument designed specifically for young children with severe neurodevelopmental dysfunction. Findings indicated that nonseparation of the deep gray nuclei was significantly associated with the cognitive construct of vocal communication, but not with the cognitive constructs of social awareness, visual attention, or auditory comprehension. Importantly, motor skill deficits did not significantly affect performance on the Carter Neurocognitive Assessment. This study is the first investigation to provide a descriptive overview of specific cognitive skills in this group of children. The results also strongly suggest that this feature of the brain's structure does not predict all aspects of neurodevelopmental function. These findings contribute a critical component to the growing body of knowledge regarding the medical and clinical outcomes of children with holoprosencephaly.

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Section: Discussionsupporting

confidence: 44%

Links Between Abnormal Brain Structure and Cognition in Holoprosencephaly

Roesler

Paterson

Flax

et al. 2006

Pediatric Neurology

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“…Patient 7, who had Miller-Dieker syndrome, also did not respond to BPO. In Miller-Dieker syndrome, cerebral tissue volume is maintained but the tissue is severely malformed (lissencephaly) due to an abnormal Lis1 gene (Dobyns et al 1993). Impairment of the Lis1 gene causes disorganization of the olfactory bulb (Hirotsune et al 1998), resulting in inefficient olfaction, which would render BPO stimulation ineffective.…”

Section: Discussionmentioning

confidence: 99%

Olfactory Stimulation Using Black Pepper Oil Facilitates Oral Feeding in Pediatric Patients Receiving Long-Term Enteral Nutrition

Munakata

Kobayashi

Niisato-Nezu

et al. 2008

Tohoku J. Exp. Med.

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Patients with severe neurological disorders often require enteral nutrition (EN). Since long-term EN can cause multiple complications, reinstating the oral intake of food is beneficial. Olfactory stimulation using black pepper oil (BPO), a strong appetite stimulant, was reported to facilitate swallowing in older people. Therefore, the effects of olfactory stimulation with BPO were investigated in pediatric patients receiving long-term EN due to neurological disorders. The effects of scenting with BPO for 1 min immediately before every meal were evaluated in ten patients: 4 boys and 6 girls, aged 19-97 months (51 ± 26 months). The neurological disorders included periventricular leukomalacia (3 patients), hypoxic ischemic encephalopathy (3), Costello syndrome (1), Russell-Silver syndrome (1), Miller-Dieker syndrome (1), and cerebral palsy of unknown etiology (1). In eight of these patients, BPO intervention was continued for 3 months. Five of these eight patients showed increases in the amount of oral intake with desirable effects including facilitated swallowing movement, although complete elimination of the need for EN was not achieved. In the other three patients, BPO intervention was not effective; severe cerebral tissue loss, profound malformation or intractable seizures seemed to reduce the efficacy of BPO. In two cases, BPO intervention was discontinued due to cough or because the odor of BPO was unbearable to the family. In conclusion, olfactory stimulation with BPO facilitated oral intake in a subset of patients on long-term EN. BPO stimulation may be useful for facilitating oral intake when used in combination with conventional methods. dysphagia; food aversion; enteral nutrition; black pepper oil; cerebral palsy. Tohoku

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“…Infantile spasms occur in 50% cases (181,182), and other forms of generalized epilepsy such as myoclonic, tonic, and tonic-clonic seizures are common. Partial seizures also are described (7).…”

Section: Epileptologymentioning

confidence: 99%

Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters

et al. 2002

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Summary:Purpose: We analyzed databases on chromosomal anomalies and epilepsy to identify chromosomal regions where abnormalities are associated with clinically recognizable epilepsy syndromes. The expectation was that these regions could then be offered as targets in the search for epilepsy genes.Methods: The cytogenetic program of the Oxford Medical Database, and the PubMed database were used to identify chromosomal aberrations associated with seizures and/or EEG abnormalities. The literature on selected small anomalies thus identified was reviewed from a clinical and electroencephalographic viewpoint, to classify the seizures and syndromes according to the current International League Against Epilepsy (ILAE) classification.Results: There were 400 different chromosomal imbalances described with seizures or EEG abnormalities. Eight chromosomal disorders had a high association with epilepsy. These comprised: the Wolf-Hirschhorn (4p-) syndrome, MillerDieker syndrome (del 17p13.3), Angelman syndrome (del 15q11-q13), the inversion duplication 15 syndrome, terminal deletions of chromosome 1q and 1p, and ring chromosomes 14 and 20. Many other segments had a weaker association with seizures. The poor quality of description of the epileptology in many reports thwarted an attempt to make precise karyotypephenotype correlations.Conclusions: We identified certain chromosomal regions where aberrations had an evident association with seizures, and these regions may be useful targets for gene hunters. New correlations with specific epilepsy syndromes were not revealed. Clinicians should continue to search for small chromosomal abnormalities associated with specific epilepsy syndromes that could provide important clues for finding epilepsy genes, and the epileptology should be rigorously characterized.

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Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13

Cited by 243 publications

References 17 publications

Links Between Abnormal Brain Structure and Cognition in Holoprosencephaly

Links Between Abnormal Brain Structure and Cognition in Holoprosencephaly

Olfactory Stimulation Using Black Pepper Oil Facilitates Oral Feeding in Pediatric Patients Receiving Long-Term Enteral Nutrition

Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters

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