Behavioral Conditions Flashcards
What type of condition is Lesch-Nyhan
Inborn error of metabolism (purine salvage pathway disorder)
Lesch-Nyhan Gene
HPRT1
Inheritance of Lesh-Nyhan
X-linked recessive
Largest indicator of Lesch-Nyhan
Self-injurious behaviors
Features of Lesch-Nyhan
Uric acid crystalluria (orange crystals in diaper)
Hypotonia
Delayed motor skills
Dystonia
ID
Spasticity
Seizures
Behavioral concerns of Lesch-Nyhan
Self-injurious behaviors
Aggressiveness
Vomiting
Spitting
Coprolalia (involuntary and repetitive use of obscene language)
Is Lesch-Nyhan progressive
No
Lesch-Nyhan HPRT enzyme levels
<2%
Smith-Magenis Gene
RAI1
RAI1 gene functions
circadian rhythm, craniofacial development
Smith-Magenis Features
coarse facial features, DD, cognitive impairment, sleep disturbance, mild to moderate ID, childhood-onset abdominal obesity
Type of mutation Smith-Magenis is
Deletion
Behavioral features of smith-magenis
attention seeking
self-injury
attention deficits
explosive outbursts
prolonged tantrums
aggressive behaviors
very affectionate
great sense of humor
1q21.1 Deletion Syndrome Features
Microcephaly
Mild ID
Seizures
Cardiac
1q21.1 Deletion Syndrome Behavioral Features
ASD
ADHD
Schizophrenia