Sotos Flashcards by Sophie Rennison

Sotos Syndrome is a

Congenital overgrowth disorder

How well did you know this?

Not at all

Perfectly

Sotos syndrome results from

Genetic mutation: haploinsufficiency on the nuclear receptor binding of NSD1 on Chromosome 5

How well did you know this?

Not at all

Perfectly

How was Sotos syndrome initially diagnosed? (4 features)

Clinical assessment based on observable features (overgrowth, macrocephaly, characteristic facial appearance, intellectual disability)

How well did you know this?

Not at all

Perfectly

What is diagnosis now based on?

Genetic testing –> abnormality of the NSD1 gene on Chromosome 5

How well did you know this?

Not at all

Perfectly

3 distinct bodily features

Overgrowth
Macrocephaly
Characteristic facial appearance

How well did you know this?

Not at all

Perfectly

Circumference of head is in the ___ percentile.

97th

How well did you know this?

Not at all

Perfectly

Sotos subjects have an advanced _____ age

Bone

How well did you know this?

Not at all

Perfectly

Why does Sotos affect both sexes?

Not linked specifically to X or Y chromosome

How well did you know this?

Not at all

Perfectly

3 examples of health complications found in Sotos subjects?

Cardiac anomalies
Renal anomalies
Epilepsy (from brain abnormalities)

How well did you know this?

Not at all

Perfectly

People with Sotos have a characteristic facial appearance, such as (3)

Frontal bossing
Prominent jaw
Downturned eyes

How well did you know this?

Not at all

Perfectly

Does Sotos affect men or women more? (Lane, Milne & Freeth, 2015)

Equal

How well did you know this?

Not at all

Perfectly

Schaefer et al., (1997)

What was the method used?

MRI of 40 Sotos children

How well did you know this?

Not at all

Perfectly

Schaefer et al., (1997)

Main takeaway point?

ALL scans were abnormal

Delayed and disturbed development

How well did you know this?

Not at all

Perfectly

Schaefer et al., (1997)

Specifically, which structures were affected? (3)

Corpus callosum
Enlarged ventricles
Inadequate posterior white matter

How well did you know this?

Not at all

Perfectly

White matter is…

Connections between sturctures

How well did you know this?

Not at all

Perfectly

Schaefer et al., (1997)

Sotos children have normal size…

Brains inside abnormally large skulls

How well did you know this?

Not at all

Perfectly

Schaefer et al., (1997)

Disturbed and delayed development, particularly in….

Midline structures

How well did you know this?

Not at all

Perfectly

Other features of abnormal brain development –> prominent _____ (2)

Trigone region in lateral ventricles

Gap between the two hemispheres

How well did you know this?

Not at all

Perfectly

Lane, Milne + Freeth (2015)

Cognitive Profile

How prevalent is intellectual disability?

Almost, but not all, all have ID (< 70) or are in borderline range (70-84)

How well did you know this?

Not at all

Perfectly

Cognitive Profile

How does verbal IQ compare to perfromance IQ?

Small number of studies have reported relative strengths

How well did you know this?

Not at all

Perfectly

3 studies required to remember for Speech and Language Delays (Cognitive Profile)

Finegan et al., 1994
Lane, Milne + Freeth, 2018
Lane, Milne + Freeth, 2015

How well did you know this?

Not at all

Perfectly

Finegan et al., 1994

Investigated 27 pps with Sotos against matched controls. What assessment was given?

Standardised assessments of language

How well did you know this?

Not at all

Perfectly

Finegan et al., 1994

Investigated 27 pps with Sotos against matched controls. What were the findings?

Language abilities CONSISTENT with general level of intellect

How well did you know this?

Not at all

Perfectly

Lane, Milne + Freeth, 2018

Administered the British Abilities Scales to 52 pps

What did they find strengths in?

Verbal abilities

Visuospatial MEMORY

How well did you know this?

Not at all

Perfectly

Lane, Milne + Freeth, 2018 Administered the British Abilities Scales to 52 pps What did they find weaknesses in?

Non verbal abilities (e.g. reasoning, mathematics --> 20th percentile)

Lane, Milne + Freeth, 2016 Which specific subsection of language might Sotos subjects struggle with?

Expressive compared to receptive

Lane, Milne + Freeth, 2016 Sotos subjects display _________ delays, compared to typically developing controls

Speech + language

Lane, Milne + Freeth, 2016 Behavioural Profile 4 features?

- Frequent aggression/tantrums - ASD prevalence - ADHD prevalence - Anxiety

Sarimsi (2003) Found that Sotos subjects were more prone to _____ anxiety, and had a tendency to...

Separation | Be more anxious in new situatons

Sheth et al., 2015 Administered a number of standardised tasks, e.g. (3 examples)

Adaptive behaviour Hyperactivity Repetitive behaviour

Sheth et al., 2015 What were the findings? (3)

Self injurous behaviour Impulsivity/overactivity Repetition (routine/phrases etc)

Sheth et al., 2015 A strength of this study is that the use of...

Standardised tasks allows for direct comparison

Sheth et al., 2015 The results show great overlap with other syndromes such as ASD/ADHD. A limitation of this is that...

The syndrome-specific behavioural profile remains unclear

Lane, Milne and Freeth (2017) investigated....

ASD and Sotos

Lane, Milne and Freeth (2017) What were the main findings? (3)

1. 83.3% met clinical cut off (55.13% in severe range) 2. No gender diffderences 3. More prevalent in mid-childhood than early or adulthood

Lane, Milne and Freeth (2017) What was the method?

Social Responsiveness Scale Assessed ASD-symptoms consistent with DSM-5, with different age-appropriate versions

Lane, Milne and Freeth (2017) Why is the finding of a non-significant effect of gender important?

Highlights gender imbalance in diagnosis - higher frequency of boys had diagnoses.

Lane, Milne and Freeth (2017) What was the conclusion?

Majority of individuals with Sotos display a current behavioural profile associated with DSM-5 criteria for ASD

Frazier et al., 2014 A factor analysis identified a profile of Autistic symptoms identified by the Social Responsiveness Scale. 3 of these include...

1. Social avoidance 2. Insistence on sameness 3. Emotion recognition

Lane, Milne and Freeth (2017) Future implication of their findings?

Clinicians should screen for ASD

Lane, Milne and Freeth (2017) Findings for high prevalence of ASD in Sotos provides evidence for...

A genetic basis of ASD

How might an individual with Sotos syndrome be treated differently compared to NT individuals, based off physical appearance?

Large for their age - could get mistaken as more able

_________ found high prevalence of ASD in Soto's syndrome

Lane, Milne & Freeth (2017)

Sheth et al., 2015 The results show great overlap with other syndromes such as _____/______.

ASD | ADHD

______ conducted an MRI of 40 children with Soto's

Schaefer et al., 1997

________ found that almost, but not all, all have ID (< 70) or are in borderline range (70-84).

Lane, Milne & Freeth, 2015

Severity of the phenotype in Sotos is

Variable

Severity of the _____ in Sotos is variable

Phenotype

"Connectivity between structures"

White matter

"Brain structures", aka

Grey matter

Schaefer et al., (1997) identified DELAYED development in people with Soto's. What does this mean?

Not as quickly developing as NT's

A small number of studies have noted verbal IQ may be higher than PIQ in Soto's. However...

Specific cognitive abilities not explored in detail in these studies

What is the most common behavioural issue in Sotos?

Aggression

Sotos individuals display a preference for routine, repetitive questions and repetitive phrases. What does this suggest?

Autism

A consideration of Sheth et al.,(2015)'s study is that the _______ is not clear

Syndrome specific behavioural profile

Lane, Milne + Freeth (2018) found around 70% of Sotos individuals have

Intellectual disability

Lane, Milne + Freeth (2018) The cluster score profile analysis revealed a consistent ____________ profile.

Verbal ability > non verbal ability

Lane, Milne + Freeth (2018) Individuals with Sotos syndrome display a clear and consistent cognitive profile, characterized by relative strength in ________ and _________ but relative weakness in _________ and _________

Verbal ability Visuospatial MEMORY Non-verbal reasoning Quantitative reasoning

The profile of cog. strengths and weaknesses could be used to create appropriate behavioural strategies, e.g. (3)

1. Schedules 2. Routines 3. Advance notice of changes

Lane, Milne + Freeth (2015) What was the methodology

Systematic review

(Sotos) In the classroom, what skills should be encouraged?

Verbal over non-verbal (quantitative reasoning/maths)

Sheth et al., (2015) what was the method

Parents/carers completed questionnaires regarding a number of domains, e.g. self-injurus behaviour/repetition

In the classroom, Soto's syndrome children may require additional support with

Numeracy

Lane, Milne & Freeth (2016) range of IQ scores?

21-113 (huge range)

Is Sotos syndrome inherited?

Not usually, but if an individual with Sotos has a child, the child has a 50% chance

Individuals with Sotos syndrome have a consistent...

Profile of relative strengths and difficulties for different cognitive abilities

Non-verbal reasoning skills are normally an area of difficulty, meaning they will struggle with

Logic and problem solving

Sotos syndrome children have strengths in visuospatial MEMORY, meaning they...

Process/remember information well if it is presented visually (rather than auditorily)

Socially, Individuals with Sotos syndrome like...

Repetition, and may talk about the same thing over and over

Sotos individuals display behavioural characteristics typically associated with

Autism

Visual/spatial learning strategies, e.g.

Objects, demonstrations, videos/pictures