Midterm

Question 1

Define a chromosome

Answer 1

A set of genes that are packaged together in the cell by winding around histones

Question 2

Define a gene

Answer 2

A chemical instruction set made of nucleotides that code for proteins in the cell

Question 3

What is gene regulation and why is it important in embryonic development?

Answer 3

Genes are regulated by several factors including access and the inclusion of introns and exons.
The genes that are turned on govern how we develop through the proteins that are present in our cells.

Question 4

Compare genotype and phenotype.

Answer 4

The genotype is the genetic material, the nucleotide code that makes up the blueprint for protein creation. The phenotype is the visual effect of the genotype.

Question 5

Differentiate autosomal and sex-linked inheritance.

Answer 5

Autosomal inheritance patterns are displayed on chromosomes that are not sex-linked. Sex linked display on the X and Y chromosomes and therefore linked to an individuals sex and inheritance patterns follow sex for some disorders.

Question 6

What is the impact of chromosomal mutations?

Answer 6

Mutations can cause issues in the formation of proteins, resulting in disorders such as trisomy 23, Williams syndrome, and fragile x syndrome

Question 7

What is Huntington’s? Describe the impact on the child’s speech, language, hearing, or swallowing and the ramifications for family members.

Answer 7

It is an autosomal dominant disease caused by >40 CAG repeats. It results in movement abnormalities, cognitive decline, and psychological problems. This can involve difficulties speaking and swallowing. Those with a diagnosed parent have a 50% chance of being diagnosed themselves.

Question 8

What is fragile X? Describe the impact on the child’s speech, language, hearing, or swallowing and the ramifications for family members.

Answer 8

It is an x-linked disorder caused by a mutation in the FMR-1 gene with >200 repeats of CGG. It causes a lack or reduced production of a protein essential in brain development. It results in delayed speech and language development, moderate intellectual disability, anxiety and ADHD. More severe in males because females have another X to compensate but it sometimes goes unnoticed in females until they have a child with features. Parents may also have premutations that increases the risk of mutation.

Question 9

What is usher’s syndrome? Describe the impact on the child’s speech, language, hearing, or swallowing and the ramifications for family members.

Answer 9

It is an autosomal recessive disorder that can occur in several different genes. It causes congenital hearing loss and progressive vision loss in adulthood.

Question 10

What are the three types of ushers syndrome?

Answer 10

Type 1: congenital profoundly deaf, progressive vision loss, abnormal vestibular system
Type 2: congenital mild-severe hearing loss, progressive vision loss, no vestibular problems
Type 3: progressive post-lingual vision and hearing loss, some vestibular problems

Question 11

What are some issues regarding genetic testing?

Answer 11

Testing for genetic disorders can have a huge effect on someone’s life, resulting in increased depression and suicide. Do we tell them? Do we test people’s children if the parents don’t want to know about themselves? With advancement of prenatal testing, it brings forward issues around eugenics and whether we should be able to choose. Programs like CRISPR create further issues, allowing us the possibility of altering our genetics to remove undesirable traits. Programs like 23 and me can be hacked or sell your information

Question 12

Describe the role of a genetic counselor.

Answer 12

Walk people through their genetic results and what they mean, the implications of those results. They also discuss possible choices they have, services that are available, provide information, and council and support the family through this.

Question 13

What are two examples of non-syndrome congenital disorders? Give their causes.

Answer 13

1. Hearing loss: can be recessive, dominant, sex-linked or mitochondrial through several different genes.
2. Autism: believed to have a genetic link but nothing has been found to be a consistant link

Question 14

List 5 of the main categories of neurodevelopmental disorders as classified by the DSM-5.

Answer 14

Intellectual disability
Communication disorder
ASD
ADHD
Motor disorders
Specific learning disorders
Other

Question 15

What are 5 potential causes for developmental delays?

Answer 15

Low birth weight, nicotine exposure, alcohol exposure, social isolation, genetics, etc

Question 16

How does knowing or suspecting a genetic or chromosomal syndrome help you gather information from the parent and generate expectations for the child’s baseline function?

Answer 16

It can help you determine what questions to ask a parent and look for whether the parents of family members display symptoms. Knowing the course of the disorder can help you make decisions about the best action plans for the child in the long run, such as not using ASL for a child suspected of Ushers syndrome.

Question 17

Define frequency

Answer 17

The rate at which sound waves travel, the change in pitch experienced

Question 18

Define amplitude

Answer 18

How loud a sound is

Question 19

What is a hearing threshold?

Answer 19

The frequency and loudness at which a listener can perceive a sound.

Question 20

What is a phon scale?

Answer 20

Application of the hearing threshold

Question 21

What is an octave?

Answer 21

The distance between 8 notes on a piano, each difference being the double of the frequency difference from that below it

Question 22

What is pitch perception?

Answer 22

Perception that is based on the relative differences between frequencies. Uses a logarithmic scale.

Question 23

What is the difference between continuous acoustic signal and categorical perception? Use an example to explain.

Answer 23

Continuous acoustic signal is like a band that goes from red to yellow gradually. An acoustic signal is often not one colour or the other, not one sound of the other, but a mix of the two. Categorical perception is how we precieve that colour. At a certain point, we stop perceiving it a red and see it as yellow. It is the same with sound. While an acoustic signal may be a mix of two different sounds, our brain will not perceive it as a mix, rather as only one until we hit that line where it perceives it as the other.

Question 24

Why is categorical perception important for learning and understanding speech?

Answer 24

This is important because when plotting perceived vowels with real acoustic data, it appears as if we should not hear a different between many of them as they overlap too much. However, our brain categorize sounds into these vowels, allowing us to perceive them differently and interpret meaning.

Question 25

How does categorical perception differ between native listeners of different languages?

Answer 25

The point at which we switch categories in speech perception depends on our native language. For example, on a VOT continuum, everything below 30ms would be perceived as bdg, whereas everything above is ptk. However, in Spanish, the category switch is at 0ms, therefore everything below that is bdg and everything above is ptk. This means that native Spanish speakers would not perceive the bdg sounds in English as it has already passed the category threshold.

Question 26

What is duplex perception? Use examples to explain.

Answer 26

Duplex perception is the ability to take in two different sounds from each ear and interpret them as one sound. For example, if an individual were to divide a speech sound into the two formants, the first would sound like an incomplete speech sound and the second would sound like a chirp when listened to separately. However, when listened to together, you would hear the speech sound as well as the chirp. Your brain does this with not only audio but visual input as well. As we listen, we take in other information such as visual gestures to interpret what we are hearing.

Question 27

What occurs during Brown’s stage 1?

Answer 27

15-30m
MLU = 1.5-2.0
Stage 1 sentence type
Nomination (that doggie), negotiation (no juice), recurrence (more cookie), possession (my baby), attribution (big ball), locative (cup table), agent-action (mommy sit), action-object (hit ball), agent-object (daddy truck).

Question 28

What occurs during Brown’s stage 2?

Answer 28

28-36m
MLU = 2.0-2.5
Present progressive (-ing), in, on, -s plural

Question 29

What occurs during Brown’s stage 3?

Answer 29

36-42m
MLU = 2.5-3.0
Irregular past tense, -s possessives, uncontractible copula (is it Alison?)

Question 30

What occurs during Brown’s stage 4?

Answer 30

40-46m
MLU = 3.0-3.7
Articles (a, the), regular past tense (-ed), third person regular present tense (-s)

Question 31

What occurs during Brown’s stage 5?

Answer 31

42+
MLU = 3.7-4.5
Third person irregular (has, does), uncontractible auxiliary (are they swimming), contractible copula, contractible auxiliary (they’re, he’s)

Question 32

What are five biological and environmental factors that may influence language development?

Answer 32

Sensory
Motor
Cognitive
Environment
Culture

Question 33

What is DLD?

Answer 33

DLD is a language disorder that is not associated with a biomedical condition and does not require a mismatch between verbal and non-verbal abilities, although it can occur with impairments to attention, motor coordination, literacy, speech, behaviour, etc.

Question 34

Explain the features of DLD using form, content, and use.

Answer 34

Content: poor vocabulary skills (struggle with words with two meanings and figurative language), inflexible word knowledge (require more exposure to gain words), and trouble with verbs
Form: omitting morphosyntatic markers (ex. dropping -ed and -s), forming wh- questions, and understanding complex syntax (embedded clauses, pronouns)
Use: immature pragmatics, weak theory of mind, trouble understanding emotional and verbal cues

Question 35

Name five special populations that might be at risk for DLD

Answer 35

Down syndrome
Fragile X
William's syndrome
ASD
Fetal alcohol syndrome

Question 36

Why is down syndrome at risk for DLD?

Answer 36

Content: delay in first word use, poor executive function makes word learning difficult, good at compensatory strategies
Form: poor speech intelligibility and syntax comprehension (shorter, less intense sentences)
Use: variable pragmatic skills (issues with eye contact), good narrative skills but very focused

Question 37

Why is fragile X at risk for DLD?

Answer 37

Content: slow vocab growth, small expressive vocab
Form: appropriate speech production and phonological awareness but poor expressive and receptive morphosyntactic skills (short MLU, less complex sentences, struggle with questions)
Use: pragmatic language impairments, poor theory of mind

Question 38

Why is william’s syndrome at risk for DLD?

Answer 38

Content: strong concrete but weak conceptual vocab
Form: delayed onset of babbling, grammatic abilities dependant on cognition
Use: very social but poor pragmatic skills, delayed joint attention, and first word before gestures

Question 39

Why is ASD at risk for DLD?

Answer 39

Content: poor vocab that is highly variable
Form: good intelligibility but poor phonological processing and deficits in morphosyntax
Use: pragmatic deficits

Question 40

Why is fetal alcohol syndrome at risk for DLD?

Answer 40

Content: receptive language disorders
Form: Poor articulation and fluency disorders
Use: poor social communication skills (tantrums, memory, poor judgement)

Question 41

What are two ways in which a language delay can affect academic outcomes?

Answer 41

Academic talk: the language used in a classroom is very different from the language used at home, it is more complex and formal and can be harder for a kid to understand.
Abstract language: often present in classrooms, especially when talking about non-concrete subject matter ex. Feelings

Question 42

How are stress patterns expressed in english?

Answer 42

Stress is expressed through a higher fundamental frequency, a longer duration, higher intensity and a peripheral formant frequency pattern, using either all or just a few to highlight a word or syllable in a phrase.

Question 43

How is focus and prosody expressed in english?

Answer 43

Focus uses pitch alteration over units larger than a single word to convey information. Ex. Statement vs. question. May also convey boredom, impatience, or politeness.

Question 44

Why are suprasegmental properties important and how do they differ for speakers and non-english listeners?

Answer 44

Suprasegmental properties create stress patterns in most lagnuages that are unique to that language. For example, tone means something different in English than in mandarin, as in mandarin, tone alters the meaning of the word versus in English it might convey emotion. These properties include tone, declination, intention/focus, and stress. Different languages use these differently to create speech patterns, allowing understanding among native speakers even if the indivudal sounds or words are incorrect. Among L2 english speakers, this pattern may not be understood, making the perception of speech much different.