Behavioral Conditions

Question 1

What type of condition is Lesch-Nyhan

Answer 1

Inborn error of metabolism (purine salvage pathway disorder)

Question 2

Lesch-Nyhan Gene

Answer 2

HPRT1

Question 3

Inheritance of Lesh-Nyhan

Answer 3

X-linked recessive

Question 4

Largest indicator of Lesch-Nyhan

Answer 4

Self-injurious behaviors

Question 5

Features of Lesch-Nyhan

Answer 5

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

Question 6

Behavioral concerns of Lesch-Nyhan

Answer 6

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

Question 7

Is Lesch-Nyhan progressive

Answer 7

No

Question 8

Lesch-Nyhan HPRT enzyme levels

Answer 8

<2%

Question 9

Smith-Magenis Gene

Answer 9

RAI1

Question 10

RAI1 gene functions

Answer 10

circadian rhythm, craniofacial development

Question 11

Smith-Magenis Features

Answer 11

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

Question 12

Type of mutation Smith-Magenis is

Answer 12

Deletion

Question 13

Behavioral features of smith-magenis

Answer 13

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

Question 14

1q21.1 Deletion Syndrome Features

Answer 14

Microcephaly
Mild ID
Seizures
Cardiac

Question 15

1q21.1 Deletion Syndrome Behavioral Features

Answer 15

ASD
ADHD
Schizophrenia

Question 16

1q21.1 Deletion Syndrome

Answer 16

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

Question 17

Tourette Syndrome Criteria

Answer 17

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

Question 18

Tourette Syndrome Genetics

Answer 18

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

Question 19

Fragile X Syndrome gene and genetics

Answer 19

FMR1
CGG trinucleotide repeat
Leads to hypermethylation

Question 20

Percent of ID, DD, or autism with fragile X

Answer 20

1-3%

Question 21

Fragile X premutation carriers

Answer 21

FXTAS and POI

Question 22

Liklihood of increased expansion for Fragile X more likely for

Answer 22

eggs

Question 23

Fragile X features

Answer 23

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

Question 24

Fragile X genetic testing

Answer 24

PCR and southern blot

Question 25

Prader Willi Features

Answer 25

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

Question 26

Prader Willi Genetics

Answer 26

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

Question 27

Prader Willi genetic testing

Answer 27

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

Question 28

Angelman Syndrome Genetics

Answer 28

15q11-13 UBE3A Mostly de novo 70% deletion

Question 29

Angelman Syndrome Features

Answer 29

Happy demeanor Severe speech impairment Hyperactivity Seizures

Question 30

Koolen-de Vries Genetics

Answer 30

17q deletion KANSL1 ~60% from deletion

Question 31

Koolen-de Vries Haplotypes

Answer 31

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

Question 32

Koolen-de Vries Features

Answer 32

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

Question 33

Williams Syndrome Genetics

Answer 33

AD 7q11.23 deletion Most de novo