L4 Soto's syndrome

Question 1

What is Soto’s syndrome? and what is its prevalence

Answer 1

is a congenital (visible from birth) overgrowth disorder. It affects roughly 1/14,000 people.

Question 2

what causes Soto’s syndrome?

Answer 2

Genetic basis, caused by a mutation on the NSD1 gene located at 5q35, leads to a growth-regulating protein to not be formed.

Question 3

Discuss the diagnosis of Soto’s

Answer 3

Prior to 2002, diagnosis relied on behavioural examinations. However, since then, genetic tests have been the sole test used in diagnosis. 90% of those with a diagnosis based on behaviour were found to have this mutated NSD1 gene (10% miss diagnosed, have something closely related behaviourally).

Question 4

What are the clinical features of someone with Soto’s

Answer 4

Clinical features:

• overgrowth; macrocephaly (Head and/or height in top >97%)
• advanced bone age
• intellectual disability

At greater risk of:

• scoliosis (s-shaped spine)
• epilepsy
• heart abnormalities
• renal abnormalities
• hyperlaxity (mobile joints/double-jointed)

Facial features:

• sparse hair
• prominent ears, jaw and forehead
• down slanted eyes

Question 5

Discuss brain differences found between those with Soto’s and neurotypicals

Answer 5

Schaffer (1997):

• did an MRI scan on 40 children with Soto’s syndrome
• found;
• none had normal scans for their age
• abnormalities in the corpus callosum (connects two hemispheres) was common
• enlarged ventricles were common
• poor development of white matter

Concluded that:
1 - children with Soto’s syndrome had delayed/disrupted
brain development
2 - had abnormally large skulls but normally sized brains
3 - that epilepsy was common

Question 6

Discuss research for investigating the cognitive and behavioural profile of Soto’s syndrome.

Answer 6

Lane Milne & Freeth (2016):

• did a systematic review of up to date literature to find out the cognitive and behavioural profile of Soto’s syndrome
• 34 papers were identified, (10 of these were group studies and 24 were case studies)

Found:
-the majority have intellectual disabilities with IQ ranging
from 21-113
-speech and language delays in 11 studies
-found relative strength in verbal IQ which was tightly
linked to IQ
Behavioural profile:
-ASD like behaviours
-ADHD like behaviours
-Aggression
-Anxiety

Lane Milne & Freeth (2016):

• wanted to further investigate, in particular, Soto’s comorbidity with ASD
• 78 individuals with SS given a Social Responsiveness Scale (SRS) which was used to asses ASD symptomology

Found:
  -83.33% scored above the cutoff for clinical levels of ASD 
   symptoms
  -no effect of gender
  -effect of age, with early childhood and adulthood scoring 
   low, and childhood scoring high
  -a factor analysis found 5 factors which showed they 
   typically had more restrictive and repetitive behaviours 
   than communication deficits 
 5 factors; 
          -poor emotion recognition 
          -social avoidance 
          -interpersonal 
          -relatedness 
          -repetitive mannerisms
          -insistence of sameness

Lane Milne & Freeth (2018)

• wanted to clarify and further understanding of the cognitive profile of Soto’s syndrome
• gave 52 individuals with SS an IQ measure called the British Abilities Scale (BAS)

Found

• 10% had an average IQ
• 20% had borderline IQ disability
• 70% had IQ disability
• relative strength with language
• found both strengths and weaknesses in spatial abilities

Lane Milne & Freeth (2019)

• final findings were that individuals with Soto’s syndrome had better verbal ability than non-verbal
• have poor quantitative reasoning (bottom <20%)
• better than average for picture recognition