Long term outcomes of individuals with Cornelia de Lange and Cri du Chat syndromes
Funded by Cerebra from 2009 to 2012
There is very little known about how people with genetic syndromes progress and change over time. This follow up study will allow us to better understand how people change as they grow older. The families involved in this study will have been visited 6.5 – 7 years ago by Jo Moss.
We aim to (i) further our understanding of cognitive, language and behavioural characteristics in individuals with Cornelia de Lange (CdLS) and Cri du Chat (CdCS) syndromes and (ii) understand what happens to these cognitive, language and behavioural characteristics as children and adults with Cornelia de Lange and Cri du Chat syndromes develop.
This study is 6.5 – 7 year longitudinal follow up of behavioural, cognitive and physical characteristics in CdLS and CdCS. Each participant will have been assessed as part of a previous study conducted at the University of Birmingham. In this study, we will investigate progress at this 6.5 – 7 year follow up in the areas of autism spectrum symptomatology, cognitive and language ability and adaptive behaviour skills.
Parents and carers of individuals with CdLS and CdCS and their children/ the person they care for will be invited to participate in this study. We will invite 34 individuals with CdLS and 23 individuals with CdCS and their carers, who participated in a research study between 2004 and 2005 at the University of Birmingham (Moss et al., 2008) investigating the nature of ASD phenomenology in these syndromes to participate.
Progress to date
Long term outcomes of individuals with Cornelia de Lange and Cri du Chat syndromes received ethical approval from the Nottingham Research Ethics Committee 1 branch of the NHS national research ethics service in 2010. Data collection began in early 2011 and involves visits to the participant’s school or home. During the visit, we use a variety of games and activities to assess language, behaviour and cognitive abilities. These visits take place all over the UK. To date, we have completed over half of the total visits.
Primary contact: Lisa Cochran
Tel: 0121 414 2855
Professor Chris Oliver
Dr Jo Moss