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Speech and Language Therapy Y1 > BIOMED 8 > Flashcards

BIOMED 8 Flashcards

Genetic disorders affecting speech and language (74 cards)

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1
Q

What is another word for a region of coding DNA (a gene)?

A

Exon

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2
Q

What is another word for a region of non-coding DNA (between genes)?

A

Intron

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3
Q

What is sequencing?

A

Reading the order of bases in a stretch of DNA (a sequence)

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4
Q

What does sequencing allow us to do?

A

Find the DNA sequence of the whole genome
Can use this as reference point to identify variations (variants) in an individual’s genes, this forms basis of genetic testing as can compare + diagnose

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5
Q

What is a genetic disorder?

A

Health problem caused by one or more abnormalities in the genome

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6
Q

What is a ‘rare’ disease?

A

Occuring in < 1:2000 in a population

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7
Q

How many in the UK are affected by a rare disease?

A

Collectively common: 3.5 mil

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8
Q

How many rare conditions have been identified? What % of these are caused by a genetic change?

A

> 7000
80% caused by genetic change

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9
Q

How have we learned about many new genetic rare diseases?

A

100,000 genomes project
Made new diagnoses + names, used to screen others with similar symptoms

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10
Q

What is a developmental disorder?

A

Neurologically based condition that can interfere with acquisition, retention, or application of specific skills/information

Begins at an early age and significantly affects psychological functioning

Many have a genetic basis

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11
Q

What % of children born with a disorder do not have a diagnosis?

A

60%

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12
Q

What are the 4 different types of genetic disorders?

A

Single gene disorders
Chromosomal disorder
Mitochondrial disorders
Complex, multifactorial disorders

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13
Q

How do mitochondrial genetic disorders occur?

A

Errors in mitochondrial DNA
Only carried by maternal side, sperm stays outside just genetic material goes in egg (but: research potentially small amount of paternal?)

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14
Q

Why do single gene disorders occur?

A

Changes in DNA sequence of a single gene at a single location

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15
Q

Describe single gene disorders

A

Hereditary
Affect every cell in body, but only where gene is expressed as a protein
Can be…
- autosomal dominant
- autosomal recessive
- sex-linked

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16
Q

For an autosomal dominant disorder, how is the disease expressed in the phenotype?

A

Only 1 copy of dominant allele needed in genotype

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17
Q

For an autosomal recessive disorder, how is the disease expressed in the phenotype?

A

Both copies of recessive allele needed in genotype

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18
Q

For X-linked dominant inheritance, who is protected with an affected father?

A

Sons

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19
Q

For X-linked recessive inheritance, who is protected with an affected father?

A

All children (may be carriers)

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20
Q

What are the 3 types of chromosomal disorders?

A

Chromosomal duplication
Aneuploidy (gain/loss of one)
- monosomy (45)
- trisomy (47)
Chromosomal fusion (note: may be implicated in cancers)

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21
Q

What is a syndrome?

A

Disease/disorder that has numerous symptoms / identifying features

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22
Q

What are 3 genetic disorders affecting speech and language?

A

Fragile X Syndrome (FXS)
Down’s syndrome
Muscular Dystrophy

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23
Q

What is Fragile X Syndrome?

A

Due to changes in a gene on X chromosome (single gene disorder)
Gene is called FMR1 (Fragile X Messenger Ribonucleoprotein 1)
Dominant trait

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24
Q

How common is FXS?

A

Most common inherited cause of learning disability in UK

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25
What is the difference between genders for prevalence of FXS?
1:4000 males (also more severely affected) 1:6000 females
26
What protein does the FMR1 gene code for?
FMRP: Fragile X Mental Retardation Protein FMRP attaches directly to ribosomes to assist in translation of mRNA
27
How is the FMR1 gene 'switched on'?
Region of DNA called the promoter
28
How is the promoter for FMR1 made?
15-50 CGG repeats in the DNA
29
How does Fragile X occur?
Mutation in promoter region - 70-200 = premutation (FMRP is normal) - 200+ = full mutation (abnormal/no FMRP)
30
How did FXS get its name?
Area with full mutation and extended promoter region affects shape of chromosome
31
What is the difference between genders for prevalence of pre-mutation for FXS?
Females 1 : 130-260 Males 1 : 250-810
32
What happens for FXS premutation in women?
Repeats tend to lengthen during final stage of egg gamete just before fertilisation, increased risk of child with FXS 20% have primary ovarian insufficiency (FX-POI) over reproductive life span
33
What happens for FXS premutation in men?
Repeats do not lengthen during fertilisation (less risk to pass on) Increased risk for ataxia (tremors/balance problems), (FXTAS, FX tremor ataxia syndrome)
34
What is the inheritance pattern of FXS?
X-linked dominant - usually mother has pre-mutation - repeats lengthen in fertilisation - daughters protected by other normal X chromosome - sons always express FXS, symptoms worse as no FMR1 gene on Y chromosome
35
Which cells are affected by FXS?
Neurons in CNS Cells that synthesise connective tissue
36
What is the presentation like in FXS due to neurons in CNS affected?
Slower S&L development Intellectual disability 1/3 males = ASD
37
What is the presentation like in FXS due to cells that synthesise connective tissue affected?
Elongation of craniofacial bones Hyper-reflexion of joints
38
What is the IQ presentation of FXS?
Learning difficulties Wide range of IQ, dependent on length of abnormal CGG repeats
39
What is the emotional + behavioural presentation of FXS?
ASD, poor eye contact ADD, hyperactivity, impulsivity Anxiety Mood disorders Mild seizures
40
What is the physical presentation of FXS?
Longer face: large ears, high forehead, large jaws Flat feet Large testicles Extremely flexible joints Hypotonia (low muscle tone)
41
How does fragile X affect speech and language?
Boys develop language at half the normal rate Hypotonia in oral-facial muscles Expressive lang delayed Excessive self-repetition Difficulties turn-taking in conversation Unpredictable speaking (slow-fast)
42
As there is no cure for fragile X, what are some interventions?
SLT Behavioural therapy SSRIs for anxiety
43
What is life expectancy for fragile X?
Normal
44
What is Down's syndrome?
Neurodevelopmental syndrome named after John Langdon Down in 1962 Genetic, chromosomal disorder Not typically inherited
45
Why does Down's syndrome occur?
Extra chromosome 21 in body cells (95% of cases), trisomy 21
46
What is the prevalence of Down's syndrome in UK and England?
1 : 1000 UK 1 : 854 England
47
Can people with Down's syndrome have a good QOL?
Yes, can lead active, healthy, independent lives in 60s/70s/beyond
48
How does trisomy 21 occur in Down's syndrome?
During meiosis, 2 chromosome 21s don't separate
49
Which gametes does trisomy 21 dysfunction occur in?
Usually egg Occasionally sperm Can also occur randomly post-fertilisation
50
How is 5% of Down's syndrome caused?
Translocation, segment of one chromosome transferred to another Segament of chromosome 21 transferred to 14 / 15 In Robertson's, entire chromosome 21 moves Can be inherited (familial DS)
51
Which cells are affected in Down's syndrome?
Proteins encoded by chromosome 21 genes Also overexpression of many genes... - excess red blood cells - smaller frontal + parietal lobe + cerebellum - delayed myelination - changes in astrocytes + glial cells - changes in mitochondria
52
What is the physical presentation of Down's syndrome in the face + head + neck?
Brachycephaly (wide + flat head) Flat facial profile + nasal bridge Short neck, excessive skin at nape of neck
53
What is the physical presentation of Down's syndrome in the ears?
Small simple ears, low set (ear infections + glue ear common)
54
What is the physical presentation of Down's syndrome in the eyes?
Inward down slant Epicanthic folds on medial aspect of eyes Almond shaped Brushfield spots
55
What is the physical presentation of Down's syndrome in the mouth?
Protruding tongue (due to relatively smaller jaw aka macroglossia) Mouth hanging open Narrow palate Abnormal teeth
56
What is the physical presentation of Down's syndrome in the hands and feet?
Clinodactyly (bend-curvature of 5th fingers) Deep plantar crease (sole of foot) Sandal gap (space between first + second toes)
57
What is the physical presentation of Down's syndrome regarding height?
Short stature
58
What is the physical presentation of Down's syndrome in the joints?
Low muscle tone Hyperflexibility Double jointed
59
What is the IQ presentation of Down's syndrome?
Mild-moderate cognitive impairment Short attention span Slow learning abilities Mental retardation, majority have IQ <50
60
How does Down syndrome affect speech and language?
Difficulty remembering sounds + putting them into words Hearing problems (ie: difference between speech sounds) delays speech Low muscle tone in muscles of mouth Changes in jaw/tongue/teeth affects articulation
61
What is Duchenne's muscular dystrophy (DMD)?
Severe, progressive, muscle wasting disease that leads to difficulties with movement (progressive muscle weakness)
62
Which areas in particular does Duchenne's muscular dystrophy affect?
Upper leg Upper arm Chest
63
Why does Duchenne's muscular dystrophy occur?
Mutation on X chromosome (largest known human gene!) Recessive trait
64
What is the prevalence of Duchenne's muscular dystrophy in the UK?
8 : 100,000 More common in male assigned at birth
65
What protein does the DMD gene code for?
Dystrophin
66
Where is the dystrophin protein found?
Skeletal muscle cells Cardiac muscle cells Small amounts in nerve cells in brain
67
What does the dystrophin protein do?
Part of protein complex Strengthens muscle fibres Protects fibres from injury during contraction/relaxation
68
What does a mutation of the DMD gene result in? What are these mutations?
Lack of dystrophin protein Thousands of different mutations have been found... - 60-70% deletions - 5-15% duplications - 20% point mutations, small deletions, or insertions
69
Why do males always express DMD even with one allele of the gene, when it is a recessive condition?
Males only have one X chromosome No dominant healthy gene on Y chromosome to compensate
70
What are some of the earlier symptoms of Duchenne's muscular dystrophy, seen at around 2-3y?
Difficulty climbing stairs Waddling gait Frequent falls Learning chair disability
71
When are those with DMD wheelchair dependent?
10-12y
72
When do those with DMD require assisted ventilation?
20y
73
When may death occur for those with DMD?
Premature, 20-40y from cardiac and/or respiratory failure (but lifespan now extended?)
74
How does DMD affect speech and language?
Slower language development Delay in being able to comprehend complex verbal info Poor phonological processing/comprehension Dysarthria in muscles of tongue + mouth EDS difficulties

Speech and Language Therapy Y1 (14 decks)

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