Finals_3_Neurodevelopmental disorders II

Question 1

FragileX

Answer 1

1. geneticconditionthatcausesintellectualdisability
2. FragileXisinheritedinanX-linkeddominantpattern(genelocatedontheX
   chromosome)
3. FragileXhasnocure

Question 2

Three domains affected in Autistic Spectrum Disorder

Answer 2

1) Social skills and behavior
Picked up/cuddled
Smile/laugh
Objects vs. people
2) language and communication skills
50% thought to be mute
Robotic, parroting or reverse pronouns
3) restricted and repetitive behavior
Twirling, flapping of hands, rocking
Restricted range of interest

Question 3

Whatcausesautism?

Answer 3

‐Bothgenetic andenvironmental factorshave
beenimplicatedinASD
-Behavioraltherapiesareamainlineof
treatment

Question 4

Niemann‐Pickdisease(NPD)

Answer 4

isagroupofinheriteddisordersthataffectmetabolismandare
causedbyspecificgeneticmutations.PatientswithNPDcannotproperlymetabolizecholesterol
andotherlipids.

Question 5

Battendisease

Answer 5

isafatal,hereditarydisorderofthenervoussystemthatbeginsinchildhood.
Symptomsarelinkedtoabuildupofsubstancescalledlipopigmentsinthebody’stissues.

Question 6

Laforadisease

Answer 6

isararegeneticdiseasethatcausesseizures,rapidlyprogressivedementia,and
movementproblemswhichbegininlatechildhoodorearlyteens.Itischaracterizedby
intracellularstructurescalledLaforabodies inthebrain,skin,liver,andmuscles.

Question 7

What is the major cause of Autism Spectrum Disorders?

Answer 7

Cause is largely unknown

Question 8

All of the following core skill domains are affected in people with autism spectrum disorder
(ASD) EXCEPT:
a. Socialization
b. Intellectual disability
c. Communication
d. Repetitive behaviors

Answer 8

b. Intellectual disability

Question 9

The following statements are true about neurodevelopmental disorders EXCEPT:
a. Individuals with fetal alcohol syndrome exhibit brain damage in developing areas
corresponding to time of alcohol consumption
b. In Fragile X Syndrome, the overexpression of FMRP is believed to result in
synaptic dysfunction
c. Although Fragile X Syndrome causes intellectual disability, with early behavioral
intervention, symptoms may be alleviated
d. Maternal ingestion of alcohol during pregnancy is preventable

Answer 9

In Fragile X Syndrome, the overexpression of FMRP is believed to result in
synaptic dysfunction