- Welcome to the Institute's new Internet
- Stem cell technique offers new potential to treat blindness
- 20 percent of adult obesity might be caused by infant nutrition
- Study to reduce birth defects
- Beta thalassaemia gene therapy success
- Genetic link with human male infertility identified
- New research into Congenital Toxoplasmosis endorses UK health guidance for pregnant women
- ICH Poster Competition and Open Day
- Is 'breast only' for first six months best?
- Six months of exclusive breast feeding: how good is the evidence?
- Major new programme to tackle childhood obesity launched
- Study shows that early detection of Severe Combined Immunodeficiency would save lives
- £28 Million boost to understand child health
- The impact of sex selection and abortion in China, India and South Korea
- Regenerative medicine success for muscles
- New study examines early-onset eating disorders in under-13s
- International 50-year mortality trends in children and young people reveal an inadequate response to the health problems and causes of death in adolescents, particularly young men
- Apples, oranges and jam – the tasty way to keep kidney disease at bay
- Scientists prove heart has built-in repair mechanism: Exciting breakthrough towards mending broken hearts
- Fight for Sight awards £1 million for retinal disease research
- New Policy Research Unit in the Health of Children, Young People and Families
- UCLB and NCYPE announce a commercialisation agreement with Special Products Limited for Epistatus®
- Molecular scalpel hope for Duchenne muscular dystrophy
- Eating disorders linked to fertility problems and negative feelings towards pregnancy
- Science: From Cradle to Grave
- £36 million boost for children's health research
- Gene therapy success for children born without functioning immune system
- ICH Open Day 2011
- Under 16s make up less than one per cent of NHS patient surveys
- Mitochondria genes and cardiomyopathy
- Child Health Research PhD Studentships 2012-13
- Tate Liverpool exhibition inspires pioneering science games
- No consistent decrease in child maltreatment despite years of policy initiatives designed to achieve it
- New approach on bone marrow transplant infections
- Genetic testing for antibiotic related deafness
- Great Ormond Street Hospital Children’s Charity announces plans to build a Centre for Children’s Rare Disease Research
- Gene therapy shows clinical effect in third immune disease
- Clean delivery kits linked to substantial reduction in neonatal deaths in South Asia, study shows
- Genetic variant inherited from the mother significantly increases birth weight
- Not enough is known about prescription drug use in pregnancy, say experts
- Improving access to education and employment and reducing the risk of transport-related injury are among the best ways to improve adolescent health
- Research reveals association between red hair gene and rare birthmarks
- Five new UCL fellows of Academy of Medical Sciences
- Surgery boost for children with drug-resistant epilepsy.
- Professor of economics and deputy director appointed to the new UK Birth Cohort Study
- First example of a heritable abnormality affecting semantic cognition found
- New Director of the UCL Institute of Child Health
- New approach to recording suspected child abuse in patient records
- Amniotic fluid yields alternatives to embryonic stem cells
- ICH OPEN DAY AND POSTER COMPETITION
- Europe’s first research centre to battle birth defects
- New cause of thyroid hormone deficiency discovered
- £10 million boost for Centre for Children’s Rare Disease Research
- EU awards grant to develop new drug for Duchenne muscular dystrophy
- New research centre for teenagers with arthritis
- Major study shows steep decline in figure for diagnosed epilepsy
- Obesity leads to vitamin D deficiency
- Researchers find gene responsible for rare condition that can lead to melanomas
- ICH research highlights unmet needs of children and young people with cancer and challenges public policy
- Amniotic fluid stem cells repair gut damage
- Developmental delays identified in children with prolonged seizures
- Number of people in UK diagnosed with eating disorders is increasing
- New method strips lungs of old cells in three hours
- Overall child deaths due to injuries are down in the UK
- Aug 13
- Prestigious NIHR Research Professorship awarded to Professor Persis Amrolia
First example of a heritable abnormality affecting semantic cognition found
20 June 2012
Four generations of a single family have been found to possess an abnormality within a specific brain region which appears to affect their ability to recall verbal material, a new study by researchers at the University of Bristol and University College London has found.
This is the first suggestion of a heritable abnormality in otherwise healthy humans, and this has important implications for our understanding of the genetic basis of cognition.
Dr Josie Briscoe of Bristol’s School of Experimental Psychology and colleagues at the Institute of Child Health in London studied eight members of a single family (aged 8–72 years), who despite all having high levels of intelligence have since childhood, experienced profound difficulties in recalling sentences and prose, and language difficulties in listening comprehension and naming less common objects .
While their conversation is articulate and engaging, they can experience the inability to ‘find’ a particular word or topic – a phenomenon similar to the ‘tip-of-the-tongue’ problem experienced by many people. They also report associated problems such as struggling to follow a narrative thread while reading or watching television drama.
Dr Briscoe said: “With their consent, we conducted a number of standard memory and language tests on the affected members of the family. These showed they had difficulty repeating longer sentences correctly and learning words in lists and pairs. This suggests their difficulties lie in semantic cognition: the way people construct and generate meaning from words, objects and ideas.”
“Given the very wide variation in age, the coherence of their difficulties in semantic cognition was remarkable.”
The researchers also used Magnetic Resonance Imaging (MRI) to study the brains of the affected family members and found they had reduced grey matter in the posterior inferior portion of the temporal lobe, a brain area known to be involved in semantic cognition.
Dr Briscoe said: “These brain abnormalities were surprising to find in healthy people, particularly in the same family, although similar brain regions have been implicated in research with older adults with neurological problems that are linked to semantic cognition”
“Our findings have uncovered a potential causal link between anomalous neuroanatomy and semantic cognition in a single family. Importantly, the pattern of inheritance appears as a potentially dominant trait. This may well prove to be the first example of a heritable, highly specific abnormality affecting semantic cognition in humans.”
Professor David Skuse, Professor of Behavioural and Brain Sciences at the UCL Institute of Child Health and honorary Consultant in Developmental Neuropsychiatry at Great Ormond Street Hospital said: “This research demonstrates the importance of clinical observation and working with patients to generate new ideas that could have wide-ranging relevance to our understanding of the human condition. What first began as a consultation with a member of the family in my clinic has led to an interesting discovery about a potential genetic influence on the links between language and cognition. We are grateful to the family for their enthusiasm in assisting with our voyage of discovery over the past 10 years.
“The next step is to identify what genetic anomaly is causing this familial problem with words and language. The possibility that there may be a single gene, or cluster of genes, that plays an important role in how the brain links words to meaning is very interesting and merits urgent further investigation.”
The study is published today in Proceedings of the Royal Society B.
Page last modified on 20 jun 12 08:48