Behavioral Conditions Flashcards

1
Q

What type of condition is Lesch-Nyhan

A

Inborn error of metabolism (purine salvage pathway disorder)

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2
Q

Lesch-Nyhan Gene

A

HPRT1

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3
Q

Inheritance of Lesh-Nyhan

A

X-linked recessive

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4
Q

Largest indicator of Lesch-Nyhan

A

Self-injurious behaviors

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5
Q

Features of Lesch-Nyhan

A

Uric acid crystalluria (orange crystals in diaper)
Hypotonia
Delayed motor skills
Dystonia
ID
Spasticity
Seizures

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6
Q

Behavioral concerns of Lesch-Nyhan

A

Self-injurious behaviors
Aggressiveness
Vomiting
Spitting
Coprolalia (involuntary and repetitive use of obscene language)

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7
Q

Is Lesch-Nyhan progressive

A

No

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8
Q

Lesch-Nyhan HPRT enzyme levels

A

<2%

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9
Q

Smith-Magenis Gene

A

RAI1

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10
Q

RAI1 gene functions

A

circadian rhythm, craniofacial development

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11
Q

Smith-Magenis Features

A

coarse facial features, DD, cognitive impairment, sleep disturbance, mild to moderate ID, childhood-onset abdominal obesity

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12
Q

Type of mutation Smith-Magenis is

A

Deletion

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13
Q

Behavioral features of smith-magenis

A

attention seeking
self-injury
attention deficits
explosive outbursts
prolonged tantrums
aggressive behaviors
very affectionate
great sense of humor

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14
Q

1q21.1 Deletion Syndrome Features

A

Microcephaly
Mild ID
Seizures
Cardiac

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15
Q

1q21.1 Deletion Syndrome Behavioral Features

A

ASD
ADHD
Schizophrenia

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16
Q

1q21.1 Deletion Syndrome

A

non-allelic homologous recombination
AD
18-50 de novo
<1% RR

17
Q

Tourette Syndrome Criteria

A

lasting at least one year
onset before age 18
at least two motor tics and one phonic tic that occur multiple times daily

18
Q

Tourette Syndrome Genetics

A

less than 2% monogenic
AD
4:1 Males:Females
10-15% RR

19
Q

Fragile X Syndrome gene and genetics

A

FMR1
CGG trinucleotide repeat
Leads to hypermethylation

20
Q

Percent of ID, DD, or autism with fragile X

A

1-3%

21
Q

Fragile X premutation carriers

A

FXTAS and POI

22
Q

Liklihood of increased expansion for Fragile X more likely for

A

eggs

23
Q

Fragile X features

A

ID
Accelerated growth in childhood
Speech
Connective tissue
Macrocephaly
Elongated face
Hypotonia

24
Q

Fragile X genetic testing

A

PCR and southern blot

25
Q

Prader Willi Features

A

Infancy: hypotonia, dysphagia
Childhood: hyperphagia, obesity, hormonal deficiencies, seizures

26
Q

Prader Willi Genetics

A

15q11-13
Paternal deletion 60-70%
Maternal UPD ~35%
Imprinting defect 2-4%
Mostly de novo

27
Q

Prader Willi genetic testing

A

methylation testing with oligo-small SNP combination array (OSA)
Polymorphism testing

28
Q

Angelman Syndrome Genetics

A

15q11-13
UBE3A
Mostly de novo
70% deletion

29
Q

Angelman Syndrome Features

A

Happy demeanor
Severe speech impairment
Hyperactivity
Seizures

30
Q

Koolen-de Vries Genetics

A

17q deletion
KANSL1
~60% from deletion

31
Q

Koolen-de Vries Haplotypes

A

H1
H2 - in 20% of Europeans, MAPT gene is inverted

32
Q

Koolen-de Vries Features

A

Tubular or pear-shaped nose with bulbous nasal tip
DD
Seizures
Friendly

33
Q

Williams Syndrome Genetics

A

AD
7q11.23 deletion
Most de novo

34
Q
A