Genetic D/o w/ Intellectual Disability Flashcards
What is the most common genetic d/o associated with intellectual disability?
Down Syndrome
Down Syndrome is also known as ___ ___
Trisomy 21
Is Down Syndrome typically inherited?
No
Is Down Syndrome usually mild, moderate, or severe?
Mild-moderate
Does a pt with down syndrome have associated physical features and medical complications?
YES
Behavioral challenges are (uncommon/common) in pts with down syndrome
common
What d/o commonly co-occurs in pts with down syndrome?
ADHD
Prader willi syndrome is characterized by a loss of gene function in region of chromosome ___
15
What are some examples of associated physical/medical features of a pt with Prader willi syndrome?
Dev. delays, early feeding difficulties and FTT
Delayed puberty, infertility
Short stature, small hands and feet
Obesity due to hyperphagia (excessive hunger)
What are the distinctive facial features of a pt with Prader willi syndrome? (forehead, eyes, mouth shapes)
Narrow forehead, almond shaped eyes, triangular mouth
Pts with Prader willi syndrome usually have mild, moderate, or severe intellectual disabilities?
mild-moderate
What is the most common inherited genetic d/o associated with intellectual disability?
Fragile X Syndrome
Fragile X syndrome is a ____ gene mutation, inherited in an X-linked (recessive/dominant) pattern
FMR1; dominant
Are males or females more severely affected in Fragile X syndrome?
Males
What d/o have a higher rate of co-occurrence in pts with Fragile X syndrome?
ASD, ADHD, anxiety, mood d/o
Angelman syndrome occurs secondary to the loss of _____ gene function, with most cases involving a segment deletion on chromosome ___
UBE3A
15
Most cases of Angelman Syndrome (are not/are) inherited
Not inherited
What are some associated physical/medical features of Angelman syndrome?
Microcephaly and “coarse” facial features, ataxic movements, epilepsy
Pts with Angelman syndrome usually have mild, moderate, or severe intellectual disabilities?
severe-profound
Pts with Angelman syndrome have frequent _____ and bouts of _____
Frequent smiling, bouts of laughter (happy, excitable demeanor)
T/F: Williams syndrome and Tuberous sclerosis complex are other examples of genetic d/o with intellectual disabilities
TRUE
What are some common physical features of a pt with Down Syndrome?
flattened face/nose bridge, prominent upper eyelid fold, upward slanting eyes, small ears, short neck, large tongue, Brushfield spots on irises, small hands/feet, single palmar crease, small pinky fingers curving towards thumb, hypotonia, short stature
What are commonly co-occurring d/o in pts with Prader Willi syndrome?
Anxiety and OCD
