Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

GEN 730 > Behavioral projects > Flashcards

Behavioral projects Flashcards

1
Q

What is 1q21.1 deletion class one?

A

Just the distal region between breakpoints 3 and 4. 1.35 Mb

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What is 1q21.1 deletion class two?

A

Distal region with the proximal region causing Thrombocytopenia-Absent Radius Syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

1q21.1 Deletion Clinical Characteristrics (Head and brain)

A

Microcephaly
Mild ID
Eye abnormalities
Seizures
DD
Dysmorphic Facial Features
Brain abnormalities

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

1q21.1 Deletion other defects

A

Cardiac defects
GI anomalies
Skeletal malformations
Hypotonia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

1q21.1 Deletion Behavioral Features

A

Schizophrenia
ASD
ADHD
Anxiety and mood disorders
Sleep issues
Self-injurious behaviors
Hallucinations
Depression
Bipolar Disorder

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

1q21.1 Deletion Why is the region susceptible?

A

Due to low copy repeats, and more susceptible to non-allelic homologous recombination

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Best test for 1q21.1 Deletion

A

CMA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

1q21.1 Deletion Inheritance pattern

A

Autosomal Dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Angelman Syndrome Gene affected

A

UBE3A

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Angelman syndrome cause of mutation (most common -least common)

A

Chromosome deletion
Unknown cause
UBE3A mutation
Imprinting
Paternal UPD
Chromosome rearrangement

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Angelman clinical characteristics

A

Severe ID/DD, gait, ataxia, tremulous limb movements, seizures

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Angelman Behavioral Features

A

Smiling, hyperactivity, speech nonverbal, unaware of danger, sleep disturbances,

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Which parental allele is impacted for Angelman syndrome?

A

The maternal Allele

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Testing for angelman syndrome

A

DNA methylation analysis
Single gene sequence analysis of UBE3A
Multigene panel
Exome/Genome/Mitochondrial seqeuencing

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Fragile X gene affected

A

FMR1 Gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What kind of issue occurs in the FMR1 Gene promoter?

A

Expansion of CGG trinucleotide repeat, which leads to methylation and lack of FMR1 protein

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What is the fragile site in FMR1 Gene?

A

Area where there is the expansion, chromosome does not condense completely, which can lead to a partially detached appearance on chromosome analysis.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

How many cases for Fragile X is mosaic?

A

Mosaicism in 20%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Fragile X syndrome in Females.

A

Less pronounced phenotype,.

Challenges in visuospatial, executive function, and math.
Less likely to have physical features,
anxiety mood swings and depression.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Genetic testing for Fragile X

A

PCR to detect trinucleotide repeat number.
Southern blot to determine methylation status.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Behavioral features for Fragile X

A

Anxiety
Depression
Social communication challenges
ASD
Gaze avoidance
Sensory sensitivity
ADHD
Hyperactivity and hyperarousal
Poor impulse control
Sleep difficultues
Aggression
Self-injurance behavior
Avoidance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Etiology of Koolen de vries

A

Structural deletion at 17q21.31

Or pathogenic variant at KANSL1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Clinical characteristics of Koolen de vries

A

Distinct facial features
DD/ID
Congenital heart defects
Seizures/epilepsy
Visual impairment
Genitourinary anomalies
Feeding difficulties
Musculoskeletal anomalies
Hearing impairment

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Behavioral issues of Koolen-devries

A

Friendly behavior
Anxiety
ADHD
ASD
Speech issues

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Testing for Koolen-deVies

A

CMS of chromosome 17 and reflex to KANSL1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Gene affected in Lesch-Nyhan

A

HPRT1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Lesch-Nyhan inheritance

A

X-Linked Recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

What are the metabolic issues for Lesch-Nyhan

A

Hyperuricemia
Asymptomatic macrocytic anemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Lesch-Nyhan Behavioral/neurological/cognitive issues

A

Dystonia
Spastic cerebral palsy
Choreoathetosis
ID
Seizures
Self-injurious behaviors

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

How does Lesch-Nyhan look in females, and how does it occur?

A

Generally asymptomatic, may have increase uric acid levels, but it is rare and carriers may have skewed X-inactivation of the normal HPRT1 allele.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

Testing for Lesch-Nyhan

A

Single-gene testing
Multigene panel
Exam/genome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

Prader-Willi syndrome behavioral traits

A

Sleep issues and daytime sleepiness, narcolepsy, excessive food-seeking, skin picking, anxiety, tantrums, manipulative behavior, ASD, OCD, ADHD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

Prader-Willi syndrome: infancy

A

Severe hypotonia
Poor appetite
feeding difficulties
genital hypoplasia

34
Q

Prader-Willi syndrome childhood

A

Delayed motor and language milestones
Speech apraxia
Precocious puberty

35
Q

Prader-Willi syndrome Adolescence-Adulthood

A

Cognitive impairment
Incomplete pubertal development
Obesity
T2DM
Hormonal deficiencies
Seizures

36
Q

Prader-Willi syndrome genetic testing

A

1st tier: Methylation testing with oligo-small SNP combination array

2nd tier: DNA polymorphism testing

37
Q

Prader-Willi syndrome genetic etiologies (most common to least common)

A

Paternal deletion
Maternal UPD
Imprinting

38
Q

Cause of Smith-Magenis

A

Deletion of 17p11.2

39
Q

Gene affected for Smith-Magenis

A

RAI1 gene

40
Q

What gene can have a haploinsufficiency in result of smith Magenis syndrome?

A

FLCN

41
Q

Are most cases of Smith-Magenis caused by a deletion or by a single-gene mutation?

A

90% are Deletions

42
Q

Smith-Magenis Facial features

A

Shorthead
o Up slanting palpebral fissures
o Smalljaw
o Tent-shaped upper lip

43
Q

Infantile symptoms of Smith-Magenis

A

Mild-to-moderate infantile hypotonia with feeding difficulties and failure to thrive

44
Q

Physical characteristics of Smith-Magenis

A

Ophthalmologic abnormalities- strabismus, myopia

Otolaryngologic (Ear, nose and throat) abnormalities

Short stature (prepubertal)
Childhood obesity
Minor skeletal anomalies, including brachydactyly

45
Q

Other characteristics of Smith-Magenis

A

Some level of developmental delay and/or intellectual disability, including early speech
delays (expressive greater than receptive speech) with or without associated hearing loss

➢ A distinct neurobehavioral phenotype that includes stereotypic and maladaptive behaviors

➢ Sleep disturbance

Signs of peripheral neuropathy

46
Q

Smith Magenis behavioral symptoms

A

❖ Outburst and tantrums due to communication difficulties
❖ Craves interaction and attention from adults and can react negatively when that attention is
taken away
❖ They require a constant routine as changes can trigger a tantrum or self-injurious behaviors
❖ Some of these behavioral issues may be related to an underlying developmental asynchrony
in which emotional growth progresses more slowly than other areas of development
❖ Compulsive finger licking- “lick and flip”
❖ Self-injury, including: head banging; hand biting; picking at skin, sores and nails;
Onychotillomania-pulling off finger- and toenails; Polyembolokoilamania-inserting foreign
objects into ears, nose, or other body orifices
❖ Destructive and aggressive behavior
❖ Repetitive behaviors
❖ Very affectionate
❖ Great sense of humor

47
Q

If there is a phenotype for smith-magenis, what kind of testing should be done?

A
  1. Do a CMA first to look for large, genome wide del/dups
  2. Single-gene testing for RAI1
  3. An intellectual disability multigene panel
48
Q

If there is no phenotype for smith-magenis, what kind of testing should be done?

A
  1. Exome
  2. Exome array
49
Q

How is Williams Syndrome Diagnosed?

A

Diagnosis is established by heterozygous 1.5-1.8 Mb deletion of the Williams-Beuren syndrome critical region on chromosome 7q11.23 using CMA or FISH

50
Q

Williams syndrome inheritance pattern

A

Autosomal Dominant

51
Q

How many genes are usually involved in this deletion, and what is one of the important identified ones?

A

26-28, ELN gene

52
Q

Facial patterns in Williams syndrome

A

Broad forehead, bitemporal narrowness, periorbital fullness, a stellate and/or lacy iris
pattern, short nose with bulbous nasal tip, wide mouth, full lips, mild micrognathia,
microcephaly (1/3rd)
o Infants – epicanthal folds, full cheeks, flat facial profile
o Young children – small, widely-spaced teeth
o Older children and adults – narrow face and long neck

53
Q

Most common cardiovascular disease in Williams syndrome

A

supravalvular aortic stenosis

54
Q

Calcium issues in Williams

A

o Hypercalcemia (15-45%); hypercalciuria (30%)

55
Q

Endocrine issues in Williams

A

o Obesity (30%); early puberty (20%); diabetes (15%); hypothyroidism (5-10%)

56
Q

Ocular issues in Williams

A

o Esotropia (50%); hyperopia (50%); stellate and/or lacy iris pattern

57
Q

Auditory issues in Williams

A

o Hypersensitivity to sound (90%); progressive sensorineural hearing loss (65%); Recurrent otitis media (50%);

58
Q

Dental issues in Williams

A

o Microdontia (95%); Malocclusion (85%)

59
Q

GU issues in Williams

A

o Enuresis (50%); bladder diverticula (50%); structural anomaly (5%); nephrocalcinosis
(<5%)

60
Q

GI issues in Williams

A

o Feeding difficulties (70%); constipation (50%); colon diverticula (30%); rectal prolapse (15%)

61
Q

Neurologic issues in Williams

A

o Central hypotonia (80%); peripheral hypotonia (50%); hyperactive deep tendon reflexes
(75%); Chiari I malformation (10%)

62
Q

Musculoskeletal issues in Williams

A

o Joint hypermobility (90%); awkward gait (60%); lordosis (40%); joint contractures (50%); radioulnar synostosis (20%); kyphosis (20%); scoliosis (18%)

63
Q

Skin issues in Williams

A

o Soft, lax skin (90%); prematurely grey hair (90%); umbilical hernia (50%); inguinal hernia
(40%)

64
Q

Behavior features in Williams syndrome

A

ID,DD
Autism, ADHD, Anxiety, Sleep disorders

o Overfriendliness, social disinhibition, excessive empathy, attention problems
o Difficulty with sensory modulation/processing, emotional regulation, and perseveration

65
Q

What specific thing should treatment should be avoided for a person with Williams Syndrome?

A

Multivitamins for children

66
Q

What kind of testing should be done to diagnose a person with Williams?

A

CMA or FISH using probe targeting the 7q11.23

67
Q

What is Tourette Syndrome?

A

Tourette syndrome (TS) is a childhood-onset neurodevelopmental disorder characterized by
the presence of involuntary motor and phonic tics.

68
Q

What is a simple motor tic?

A

brief, repetitive movements involving one muscle group (blinking, snapping fingers

69
Q

What is a complex motor tic?

A

coordinated patterns of movements involving more than one muscle group (facial
grimace with shoulder shrug, jumping).

70
Q

What is a simple phonic tic?

A

non-word vocalizations (sniffing, single syllable sounds/noises).

71
Q

What is a complex phonic tic?

A

phrases or combinations of sounds (repeating whole words, phrases, or sentences).

72
Q

What is the diagnostic criteria for Tourette Syndrome?

A
  1. Onset of tics before the age of 18.
  2. Tics lasting at least one year.
  3. At least two motor tics and one phonic tic that occur multiple times daily.
73
Q

Is there a genetic connection to Tourette Syndrome?

A

There are many candidate genes for Tourette Syndrome, but none have any robust scientific evidence.

74
Q

What is the disinhibition model for Tourette Syndrome?

A

In this model, a defect in the circuitry of the brain is thought to
cause an inability to delay or suppress actions.

75
Q

What is the dopamine model for Tourette Syndrome?

A

In this model, aberrant dopamine releases are thought to cause
tics.

76
Q

What is the premonitory model for Tourette Syndrome?

A

In this model, tics are thought of as a habitual and learned action.
There is a dopamine release when a tic is completed that teaches
the mind to repeat them.

77
Q

Treatment for Tourette Syndrome

A

Cognitive behavior intervention for tics, pharmacotherapy, brain stimulation, and treatments for ADHD and OCD

78
Q

What is the age of onset and peak age of symptoms for Tourette?

A

Age of onset: 3-8 years old.
Peak severity: 8-12 years old.

79
Q

What age does remission of Tourette tend to occur?

A

16 years of age

80
Q

How many cases of Tourette is thought to be monogenic?

A

<2%

81
Q

What inheritance pattern has been tracked for Tourette?

A

Autosomal Dominant, 4:1 male to female

82
Q

Tourette recurrence rate

A

10-15% in first degree relative

GEN 730 (6 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions