Perspectives on holoprosencephaly: Part III. Spectra, distinctions, continuities, and discontinuities

Cohen, Michael

doi:10.1002/ajmg.1320340232

Cited by 220 publications

(157 citation statements)

References 102 publications

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“…Both environmental and genetic causes of holoprosencephaly have been identified. Possible etiologies include maternal diabetes, infections or drug use during pregnancy, deficits in cholesterol biosynthesis, chromosomal abnormalities, and genetic defects [8][9][10][11]. Six human genes have been found to be associated with holoprosencephaly (SHH, SIX3, ZIC2, TGIF, PTCH, and DKK), and seven other defective chromosome loci have been linked to this diagnosis.…”

Section: Introductionmentioning

confidence: 99%

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: Introductionmentioning

confidence: 99%

Links Between Abnormal Brain Structure and Cognition in Holoprosencephaly

Roesler

Paterson

Flax

et al. 2006

Pediatric Neurology

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“…Pedigrees suggesting autosomal recessive and possibly Xlinked inheritance have also been reported (8,9,15,16). HPE is extremely heterogeneous with both teratogenic and genetic causes (7,9,16,17). The best documented environmental factor in humans is maternal diabetes.…”

Section: Introductionmentioning

confidence: 99%

“…Phenotypic expression of HPE is quite variable and 70-80% of cases with alobar HPE have facies diagnostic for HPE (6)(7)(8). Cyclopia or synophthalmia, severe ocular hypotelorism with divided orbits, and a proboscis-like nasal structure are mostly associated with alobar HPE.…”

Section: Introductionmentioning

confidence: 99%

Molecular genetics of holoprosencephaly

Nanni

Rl²,

Mt³

2000

Front Biosci

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“…Na perspectiva genética, uma definição fixa da HPE não é apropriada, pois a mesma causa pode resultar tanto na HPE quanto em microformas da mesma (Cohen Jr 2001 (Cohen 1989b), dando origem aos cinco tipos baseados na expressão clínica da HPE:…”

Section: Diagnóstico E Prognósticounclassified

“…Tem-se estabelecido que crianças com HPE apresentam dificuldades significativas para alcançar qualquer progresso de desenvolvimento neuropsicomotor (Cohen et al 1990) Cohen 1989b). Quando não há malformação cerebral, as manifestações faciais leves são denominadas "microssinais" ou "microformas" e têm sido reconhecidas como predisponentes ao nascimento de crianças com HPE nas gerações seguintes (Berry et al 1984, Hattori et al 1987, Fryns e Van den Berghe 1988, Jaramillo et al 1988.…”

Section: Introductionunclassified

Potenciais evocados auditivos de tronco encefálico na Holoprosencefali

Antoneli¹

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porque depois de muitos dias o acharás.Reparte com sete, e ainda até com oito, porque não sabes que mal haverá sobre a terra. Ao meu querido "chefe", Dr. Richieri, que abraçou este trabalho e me deu a oportunidade maravilhosa de conviver diariamente com uma das pessoas que mais admiro. Agradeço infinitamente pelo privilégio de ter seu nome em meus trabalhos, de tê-lo tido como chefe do setor onde desenvolvi esse trabalho, de sempre ter aprendido com ele muito mais do que eu esperava.À minha pequena grande amiga, Dr a Lucilene Arilho Ribeiro, por ter idealizado a pesquisa com Holoprosencefalia, tornando impossível não dizer que, sem sua dedicação, esse trabalho não existiria. Muito mais que isso, devo agradecê-la pelas horas intermináveis de conversa, das quais sobrevinham ora lágrimas ora boas risadas.Por detrás dessa face meiga e desse porte delicado, esconde-se uma pessoa forte, determinada e equilibrada; por isso devo dizer que é um privilégio tê-la como amiga e ter desfrutado de sua companhia numa fase que tanto necessitei. Ela trouxe, além de valiosos conhecimentos, muita alegria e união ao nosso ambiente de trabalho, tornando a realização desse estudo não só mais fácil como muito mais prazerosa.

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Perspectives on holoprosencephaly: Part III. Spectra, distinctions, continuities, and discontinuities

Cited by 220 publications

References 102 publications

Links Between Abnormal Brain Structure and Cognition in Holoprosencephaly

Links Between Abnormal Brain Structure and Cognition in Holoprosencephaly

Molecular genetics of holoprosencephaly

Potenciais evocados auditivos de tronco encefálico na Holoprosencefali

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