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Partial agenesis of the corpus callosum, hippocampal atrophy, and stable intellectual disability associated with Roifman syndrome

Partial agenesis of the corpus callosum, hippocampal atrophy, and stable intellectual disability associated with Roifman syndrome
Partial agenesis of the corpus callosum, hippocampal atrophy, and stable intellectual disability associated with Roifman syndrome
In 2006, we reported the cognitive and behavioral phenotype of the seventh case of Roifman syndrome (OMIM 300258). Aged 11 years 6 months, the patient displayed significant intellectual disability with proportionate impairments in attentional-executive, memory, and visuo-spatial abilities despite appearing socially "able." This discrepancy may be explained by good social-emotional skills masking his intellectual disability, by decline in cognitive abilities over time, or by unusual neuroradiological abnormalities not previously examined in Roifman syndrome. Here, we present results from a structural MRI scan, neurocognitive evaluations repeated 2 and 5 years post-baseline and assessments of face and emotional processing. The MRI revealed partial agenesis of the corpus callosum, bilateral hypoplastic hippocampi but bilaterally intact amygdala. No evidence was found for decline in the patient's neurocognitive profile. Emotional processing data indicated an age-appropriate pattern of reactivity to emotional stimuli and preserved facial identity recognition abilities, but impairments in recognition of negative facial expressions. The results confirmed a stable pattern of intellectual disability, and indicated that Roifman syndrome may be associated with major structural neuro-anatomical abnormalities. We suggest that the relative strengths in emotion and face processing are consistent with the patient's apparently able social behavior, and with intact amygdalar function.
1552-4825
2560-2565
Fairchild, Helen
6bd36920-19db-4546-95e3-3c2e7d80e2de
Fairchild, Graeme
f99bc911-978e-48c2-9754-c6460666a95f
Tierney, Kevin
1850e358-be2f-4c90-a4f6-66d209958498
McCartney, Deborah
7885c05b-385c-4b2e-b2f7-7122f917d219
Cross, Justin
f1314457-02fb-4961-9f37-e48e68de413a
de Vries, Petrus
883218e4-e036-46ea-bd39-44ebbefb735a
Fairchild, Helen
6bd36920-19db-4546-95e3-3c2e7d80e2de
Fairchild, Graeme
f99bc911-978e-48c2-9754-c6460666a95f
Tierney, Kevin
1850e358-be2f-4c90-a4f6-66d209958498
McCartney, Deborah
7885c05b-385c-4b2e-b2f7-7122f917d219
Cross, Justin
f1314457-02fb-4961-9f37-e48e68de413a
de Vries, Petrus
883218e4-e036-46ea-bd39-44ebbefb735a

Fairchild, Helen, Fairchild, Graeme, Tierney, Kevin, McCartney, Deborah, Cross, Justin and de Vries, Petrus (2011) Partial agenesis of the corpus callosum, hippocampal atrophy, and stable intellectual disability associated with Roifman syndrome. American Journal of Medical Genetics: Part A, 155A (10), 2560-2565. (doi:10.1002/ajmg.a.34215). (PMID:21910238)

Record type: Article

Abstract

In 2006, we reported the cognitive and behavioral phenotype of the seventh case of Roifman syndrome (OMIM 300258). Aged 11 years 6 months, the patient displayed significant intellectual disability with proportionate impairments in attentional-executive, memory, and visuo-spatial abilities despite appearing socially "able." This discrepancy may be explained by good social-emotional skills masking his intellectual disability, by decline in cognitive abilities over time, or by unusual neuroradiological abnormalities not previously examined in Roifman syndrome. Here, we present results from a structural MRI scan, neurocognitive evaluations repeated 2 and 5 years post-baseline and assessments of face and emotional processing. The MRI revealed partial agenesis of the corpus callosum, bilateral hypoplastic hippocampi but bilaterally intact amygdala. No evidence was found for decline in the patient's neurocognitive profile. Emotional processing data indicated an age-appropriate pattern of reactivity to emotional stimuli and preserved facial identity recognition abilities, but impairments in recognition of negative facial expressions. The results confirmed a stable pattern of intellectual disability, and indicated that Roifman syndrome may be associated with major structural neuro-anatomical abnormalities. We suggest that the relative strengths in emotion and face processing are consistent with the patient's apparently able social behavior, and with intact amygdalar function.

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Published date: November 2011
Organisations: Psychology

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Local EPrints ID: 341289
URI: http://eprints.soton.ac.uk/id/eprint/341289
ISSN: 1552-4825
PURE UUID: e411f1dd-3b0b-4cf5-a730-4532829c0b25
ORCID for Graeme Fairchild: ORCID iD orcid.org/0000-0001-7814-9938

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Date deposited: 19 Jul 2012 10:37
Last modified: 20 Jul 2019 00:46

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Contributors

Author: Helen Fairchild
Author: Graeme Fairchild ORCID iD
Author: Kevin Tierney
Author: Deborah McCartney
Author: Justin Cross
Author: Petrus de Vries

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