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NDDs/Stroke > Sotos > Flashcards

Sotos Flashcards

1
Q

Sotos Syndrome is a

A

Congenital overgrowth disorder

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2
Q

Sotos syndrome results from

A

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

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3
Q

How was Sotos syndrome initially diagnosed? (4 features)

A

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

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4
Q

What is diagnosis now based on?

A

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

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5
Q

3 distinct bodily features

A

Overgrowth
Macrocephaly
Characteristic facial appearance

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6
Q

Circumference of head is in the ___ percentile.

A

97th

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7
Q

Sotos subjects have an advanced _____ age

A

Bone

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8
Q

Why does Sotos affect both sexes?

A

Not linked specifically to X or Y chromosome

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9
Q

3 examples of health complications found in Sotos subjects?

A

Cardiac anomalies
Renal anomalies
Epilepsy (from brain abnormalities)

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10
Q

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

A

Frontal bossing
Prominent jaw
Downturned eyes

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11
Q

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

A

Equal

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12
Q

Schaefer et al., (1997)

What was the method used?

A

MRI of 40 Sotos children

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13
Q

Schaefer et al., (1997)

Main takeaway point?

A

ALL scans were abnormal

Delayed and disturbed development

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14
Q

Schaefer et al., (1997)

Specifically, which structures were affected? (3)

A
  1. Corpus callosum
  2. Enlarged ventricles
  3. Inadequate posterior white matter
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15
Q

White matter is…

A

Connections between sturctures

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16
Q

Schaefer et al., (1997)

Sotos children have normal size…

A

Brains inside abnormally large skulls

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17
Q

Schaefer et al., (1997)

Disturbed and delayed development, particularly in….

A

Midline structures

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18
Q

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

A

Trigone region in lateral ventricles

Gap between the two hemispheres

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19
Q

Lane, Milne + Freeth (2015)

Cognitive Profile

How prevalent is intellectual disability?

A

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

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20
Q

Cognitive Profile

How does verbal IQ compare to perfromance IQ?

A

Small number of studies have reported relative strengths

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21
Q

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

A

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

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22
Q

Finegan et al., 1994

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

A

Standardised assessments of language

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23
Q

Finegan et al., 1994

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

A

Language abilities CONSISTENT with general level of intellect

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24
Q

Lane, Milne + Freeth, 2018

Administered the British Abilities Scales to 52 pps

What did they find strengths in?

A

Verbal abilities

Visuospatial MEMORY

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25
Q

Lane, Milne + Freeth, 2018

Administered the British Abilities Scales to 52 pps

What did they find weaknesses in?

A

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

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26
Q

Lane, Milne + Freeth, 2016

Which specific subsection of language might Sotos subjects struggle with?

A

Expressive compared to receptive

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27
Q

Lane, Milne + Freeth, 2016

Sotos subjects display _________ delays, compared to typically developing controls

A

Speech + language

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28
Q

Lane, Milne + Freeth, 2016

Behavioural Profile

4 features?

A
  • Frequent aggression/tantrums
  • ASD prevalence
  • ADHD prevalence
  • Anxiety
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29
Q

Sarimsi (2003)

Found that Sotos subjects were more prone to _____ anxiety, and had a tendency to…

A

Separation

Be more anxious in new situatons

30
Q

Sheth et al., 2015

Administered a number of standardised tasks, e.g. (3 examples)

A

Adaptive behaviour
Hyperactivity
Repetitive behaviour

31
Q

Sheth et al., 2015

What were the findings? (3)

A

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

32
Q

Sheth et al., 2015

A strength of this study is that the use of…

A

Standardised tasks allows for direct comparison

33
Q

Sheth et al., 2015

The results show great overlap with other syndromes such as ASD/ADHD. A limitation of this is that…

A

The syndrome-specific behavioural profile remains unclear

34
Q

Lane, Milne and Freeth (2017) investigated….

A

ASD and Sotos

35
Q

Lane, Milne and Freeth (2017)

What were the main findings? (3)

A
  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
36
Q

Lane, Milne and Freeth (2017)

What was the method?

A

Social Responsiveness Scale

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

37
Q

Lane, Milne and Freeth (2017)

Why is the finding of a non-significant effect of gender important?

A

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

38
Q

Lane, Milne and Freeth (2017)

What was the conclusion?

A

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

39
Q

Frazier et al., 2014

A factor analysis identified a profile of Autistic symptoms identified by the Social Responsiveness Scale. 3 of these include…

A
  1. Social avoidance
  2. Insistence on sameness
  3. Emotion recognition
40
Q

Lane, Milne and Freeth (2017)

Future implication of their findings?

A

Clinicians should screen for ASD

41
Q

Lane, Milne and Freeth (2017)

Findings for high prevalence of ASD in Sotos provides evidence for…

A

A genetic basis of ASD

42
Q

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

A

Large for their age - could get mistaken as more able

43
Q

_________ found high prevalence of ASD in Soto’s syndrome

A

Lane, Milne & Freeth (2017)

44
Q

Sheth et al., 2015

The results show great overlap with other syndromes such as _____/______.

A

ASD

ADHD

45
Q

______ conducted an MRI of 40 children with Soto’s

A

Schaefer et al., 1997

46
Q

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

A

Lane, Milne & Freeth, 2015

47
Q

Severity of the phenotype in Sotos is

A

Variable

48
Q

Severity of the _____ in Sotos is variable

A

Phenotype

49
Q

“Connectivity between structures”

A

White matter

50
Q

“Brain structures”, aka

A

Grey matter

51
Q

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

A

Not as quickly developing as NT’s

52
Q

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

A

Specific cognitive abilities not explored in detail in these studies

53
Q

What is the most common behavioural issue in Sotos?

A

Aggression

54
Q

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

A

Autism

55
Q

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

A

Syndrome specific behavioural profile

56
Q

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

A

Intellectual disability

57
Q

Lane, Milne + Freeth (2018)

The cluster score profile analysis revealed a consistent ____________ profile.

A

Verbal ability > non verbal ability

58
Q

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 _________

A

Verbal ability
Visuospatial MEMORY
Non-verbal reasoning
Quantitative reasoning

59
Q

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

A
  1. Schedules
  2. Routines
  3. Advance notice of changes
60
Q

Lane, Milne + Freeth (2015)

What was the methodology

A

Systematic review

61
Q

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

A

Verbal over non-verbal (quantitative reasoning/maths)

62
Q

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

A

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

63
Q

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

A

Numeracy

64
Q

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

A

21-113 (huge range)

65
Q

Is Sotos syndrome inherited?

A

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

66
Q

Individuals with Sotos syndrome have a consistent…

A

Profile of relative strengths and difficulties for different cognitive abilities

67
Q

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

A

Logic and problem solving

68
Q

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

A

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

69
Q

Socially, Individuals with Sotos syndrome like…

A

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

70
Q

Sotos individuals display behavioural characteristics typically associated with

A

Autism

71
Q

Visual/spatial learning strategies, e.g.

A

Objects, demonstrations, videos/pictures

NDDs/Stroke (9 decks)

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