Growth Conditions and Rare Syndrome Affecting Development Flashcards
What is a rare genetic syndrome?
A condition is rare if it affects less than 1 in 2000 people
How many people will be affected by a rare disease (either themselves or a loved one) in their lifetime?
1 in 17
Name 2 or more charities aiming to help people deal with genetic disease?
Genetic Alliance UK (policy based)
Unique (Education and Genetic Counselling)
Child Growth Foundation
What are 5 (ish) cardinal symptoms of Silver-Russel Syndrome?
Very slow and minimal growth (small and thin)
Low appetite and subsequently frequent hypoglycaemia
Long head with small chin
Earlier puberty-often resulting in a smaller height
How do you treat Silver Russel Syndrome?
Nutritional treatment
Growth Hormones
Both aim to increase appetite, body mass and muscle strength
What does Silver Russel put one at more severe risk of?
Metabolic Issues in later life
What are the 2 most common genetic causes linked to Silver Russel Syndrome?
Loss of methylation on chromosome 11p13
Maternal unilateral disomy for chromosome 7
What else is Maternal unilateral disomy of chromosome 7 related to?
Autism and reduced cognitive function
What is the social responsiveness scale commonly used for?
Indicating Autism
How does Sotos Syndrome affect growth?
It causes congenital overgrowth
How common is Sotos Syndrome?
1 in 14 000
What is the current assumed genetic cause of Sotos Syndrome? (affects 90% of cases- variation of it’s presence is attributed to phenotype)
Haploinsufficiency of the nuclear receptor binding SET domain protein 1 (NSD1) gene on chromosome site 5q35
What is Silver Russel Syndrome?
A rare undergrowth condition, that causes undergrowth both prenatally and after birth. At least 60% of cases have been explained by genetics
What are the 3 cardinal features of Sotos Syndrome required for diagnosis?
Overgrowth
Macrocephaly (head overgrowth, always at least <97th percentile
Intellectual Disability
What 7 prevalent, but nor cardinal features of Sotos Syndrome?
Scoliosis
seizures
Renal problems
Sparse hair
Frontal Bossing (big forehead)
Down-slanting palpebral features
Prominent jaw
What were Schafer’s findings from his MRI study on the neural differences in children with Sotos Syndrome
Altered corpus collosum, especially the posterior corpus collosum
enlarged ventricles
Inadequate posterior white matter
Prominent Gyri and Sulci
(all these effects occur around the midline of the brain and are often also indicated in epilepsy)
What are the associated cognitive features of Sotos Syndrome?
Intellectual disability in most cases (evidence via systematic reviews)
IQ range is between 21 (very very low) to 113 (above average
Better verbal IQ than performance IQ
Speech and language delays
Better
WhaWhat are some challenging behaviours that might occur in children with Sotos Syndrome (all emulative of ADHD)?
Slef-injurous behaviour, stereotyped behaviour, destruction of property
Impulsivity and overactivity
Reoeating verbal phrases
What other neurodevelopmental condition has often been linked to Sotos Syndrome?
Autism
What traits do both ASC and Sotos Syndrome individuals have high levels of?
EMotion Reognition
Social Avoidance
Interpersonal Relatedness
Insistence on Sameness
Repetitive mannerisms
Should children with ASC be screened for ASC?
yes
WHat is the british Ability Scale?
A test of cognitive ability
According to the British Ability Scale, what is the mean IQ of individuals with Sotos Syndrome?
Around 60 (moderate intellectual disability)
What are some relative strengths in individuals with Sotos Syndrome?
Verbal Cognitive Abilities
Visuo-Spatial Memory
(relative weakness in qualitative and non-verbal reasoning)
How many people in a sample of individuals with Sotos Syndrome had impaired, borderline impaired and normal functioning?
Impaired= 61%
Borderline = 31%
Normal Functioning = 10%
