Survey
* Your assessment is very important for improving the workof artificial intelligence, which forms the content of this project
* Your assessment is very important for improving the workof artificial intelligence, which forms the content of this project
Behavioural phenotypes Dr. Gemma Griffith [email protected] Outline • What is a behavioural phenotype? • Examples of behavioural phenotypes – Cornelia de Lange Syndrome – Cri du Chat Syndrome • All video clips come from ‘The Three Syndrome project’ research conducted with Birmingham University and IoP, London during my PhD. What is a behavioural phenotype? • The definition currently accepted by the majority of researchers in the ID field was proposed by Dykens (1995) which is; • “a behavioural phenotype is the heightened probability or likelihood that people with a given syndrome will exhibit certain behavioural and developmental sequelae relative to those without the syndrome” (pg 523). • So, although genetic disorders have a similar origin (e.g missing part of chromosome), there may be great range of cognitive/ behavioural strengths and weaknesses within a syndrome. • Particular behaviours and cognitive profiles are more likely, but are not inevitable. • This means there can be great variability between individuals with the same syndrome. Cornelia de Lange syndrome (CdLS) • First recognised in 1916. • It is estimated that the incidence of Cornelia de Lange Syndrome is between 1 in 10,000 - 25,000 live births. Cornelia de Lange syndrome • Physical features • often short in stature and below average weight when compared to others their age. • The facial characteristics of Cornelia de Lange Syndrome are often striking, • Features include: – – – – – thin eyebrows which meet in the middle long eyelashes, a short upturned nose thin down-turned lips low-set ears • Limb abnormalities including missing portions or shortening of limbs - usually fingers, hands or forearms. Communication in CdLS • Approximately 60 to 85% of children and adults with Cornelia de Lange Syndrome do not develop verbal communication skills. • Expressive communication skills (ability to express oneself) are significantly more impaired than receptive language skills (ability to understand communication). • Passivity Cri du Chat Syndrome (CdC) • Cri du Chat Syndrome was first identified in 1963 and is so named because of a distinctive ‘cat-like’ high-pitched cry which can be shown by some children who have the syndrome. • Cri du Chat Syndrome is a rare genetic disorder that affects approximately 1 in 37,000 to 50,000 live births. CdC syndrome-physical features • The larger the size of the chromosomal deletion, the more pronounced the physical characteristics are among individuals with Cri du Chat Syndrome. • Physical features include: – – – – – – Rounded face Widely spaced eyes Ears that are positioned low on the head Poor muscle tone (hypotonia) Microcephaly (small head size) A tendency to be shorter and lighter than their peers throughout childhood and adolescence Communication in CdC syndrome • Most people with CdC have much greater receptive language then expressive language. So are able to follow conversations and understand complex instructions, but expression/ pronunciation is often poor. Communication in CdC syndrome • The high motivation to communicate combined with the difficulties in expressive communication can be extremely frustrating for people with CdC syndrome and may underlie a lot of the challenging behaviours Main points • From the video clips, you can see that there is a strong desire to interact and communicate with other people in people with Cri du Chat syndrome. – Difficulty in communicating may underlie many challenging behaviours in Cri du chat syndrome. – We rarely see people with Cornelia de Lange syndrome getting frustrated about not being able to communicate complex information. Sociability is less pronounced – Therefore, heightened sociability is a relative strength among people with Cri du Chat syndrome, and is therefore part of the behavioural phenotype. Thank you •