IDD Syndromes
What syndrome primarily affecting females is associated with a period of ostensibly normal development for the first 6–18 months of life, followed by a regression or loss of intellectual functioning and fine and gross motor skills, social withdrawal, the development of stereotypic hand-wringing movements, and a reduced life span?
Rett syndrome
What widely used assessment with 567 items assesses a variety of symptom patterns, including thought disorders, affective disorders, and personality symptoms? It is known for its efficiency, its extensive normative base, the use of validity scales that indicate the patient’s test-taking attitude, and its impressive cross-cultural validation.
Minnesota Multiphasic Personality Inventory (MMPI)
This type of individual genetic variation is characterized by changes of a single DNA base pair (e.g., adenine [A] to guanine [G]) that occur in approximately one per every 1,200 bases throughout the genome
SNP (single-nucleotide polymorphism)
What syndrome is found in 1 per 29,500 births and is characterized by hypotonia, intellectual disability, failure to thrive giving way to hyperphagia, early obesity, hypogonadism, short stature with small hands and feet, sleep apnea, and behavioral problems? It is caused by an abnormality at chromosome 15q11.13.
Prader-Willi
Visuospatial memory deficits are most commonly expected with ______ hemispheric lesions. (Fill in the blank)
right; Verbal memory deficits are associated with left hemispheric lesions.
In this type of genetic analysis, hundreds of microsatellite markers (polymorphic short tandem repeats) are genotyped across the genome in large families or in many multiplex families in order to identify chromosomal regions that cosegregate with the disease phenotype
What syndrome is caused by a microdeletion on chromosome 7q11.23, has a prevalence of 1 per 7,500, and is associated with a specific pattern of facial features, personality (excessively friendly, anxious), connective tissue abnormalities, heart disease, failure to thrive, and growth deficiency?
Williams syndrome
Which neuropsych test is a confrontational naming test sensitive to the presence of word finding difficulty?
Boston Naming Test
This type of genetic study identifies regions of the genome shared between affected (but not necessarily related) individuals resulting from a distant ancestral founder who transmitted a risk allele to subsequent generations. Genotype data at selected markers are collected from cases and controls to compare allele frequencies between these groups
association mapping
This neurogenetic disorder occurs at a rate of around 1 per 10,000-20,000 births worldwide. Symptoms include severe developmental delays with severe speech impairment, ataxia of gait and/or tremulous movement of the limbs, frequent laughter/happy demeanor, excitable personality, often with hand flapping, and short attention span. It is associated with an abnormality on chromosome 15. What is it called?
Angelman syndrome
What neuropsych test is used to measure executive function, cognitive flexibility, and concept formation? It involves the patient adapting to a changing set of rules.
Wisconsin Card Sorting Test
Given the high rate of false positives that can occur in Genome-Wide Association Studies (50,000 false positives per million tests) the consensus p value for significance is set at what very small number?
5 x 10-8
Velocardiofacial syndrome is a disorder that typically involves abnormalities in the palate, heart, and face. The most common features are cleft palate; heart defects; characteristic facial features; and learning, speech, and feeding difficulties. VCFS is also known as Shprintzen syndrome, DiGeorge syndrome, or craniofacial syndrome. What is the chromosomal deletion associated with this disorder?
deletion at 22q11.2
Which neuropsych test is a widely used projective process for assessing the patient’s self-concept in relation to others? Originally developed by Murray (1943), the test consists of a set of 30 pictures depicting one or more individuals. The patient is asked to make up a story based on each picture.
Thematic Apperception Test
This type of study is a microarray-based technology that can detect copy-number variations in the human genome rapidly and accurately. The arrays used for these studies are glass slides spotted with thousands of probes, from short oligonucleotides to hundred-megabase clone inserts, spanning the genome or focused on a genomic region of interest.
CGH (comparative genomic hypridization)