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1. Which of the following accurately describes the characteristics of intellectual and developmental disabilities (IDD) among the pediatric population?
A. The American Association on Intellectual and Developmental Disabilities describes developmental disabilities as severe chronic disabilities that can be cognitive, physical, or both, that generally appear before age 19 years, and that are likely to be lifelong
B. The etiology of IDD is complex, and it is estimated that more than nearly 300 genetic diseases contribute to this condition
C. The prevalence of severe intellectual disability is estimated as 3 to 4 per 1,000 children and adults, while mild intellectual disability is much more common
D. Approximately 12 percent of children in the United States have some type of disability, and about 4 percent of children will require lifelong care for their disability
2. Although "mental retardation" and "intellectual disability" are technically synonymous, intellectual disability is the preferred term as it is considered to be less offensive to persons with IDD, to be more consistent with internationally used terminology, and to align with current professional practices.
A. True
B. False
3. The discovery of Neural Stem Cells (NSCs) in the adult mammalian brain has dramatically changed the view of the brain's regenerative potential and raised the possibility of preempting the development of some neurodegenerative and neurodevelopmental diseases.
A. True
B. False
4. The genetic neurological disorder that results from mutations in the Survival Motor Neuron 1 (SMN1) gene that causes SMN protein deficiency and leads to the loss of motor neurons, muscle weakness, paralysis, and death is:
A. Phenylketonuria
B. Tay-Sachs disease
C. Wilson disease
D. Spinal muscular atrophy
5. Rett syndrome, caused by gene mutations, occurs almost exclusively in girls and causes loss of language, cognitive, and fine motor skills around the time they are starting kindergarten.
A. True
B. False
6. Results from Rett Syndrome mice studies focused on investigating the hypothalamus dramatized the need for a paradigm shift in research on genetically caused IDD from the "gene-protein network" approach to the "one gene-one protein" linear approach.
A. True
B. False
7. Cornelia de Lange Syndrome (Cols) is a multisystem genetic disease affecting an estimated one in 10,000 children that causes each of the following EXCEPT:
A. Speech and language deterioration
B. Impaired growth
C. Deformed upper limbs
D. Distinctive facial features
8. The overproduction or underproduction of the myelin proteins MPZ and PMP22 account for the majority of inherited peripheral neuropathies, the disorders affecting the nerves outside the brain and spinal cord characterized by numbness, weakness, pain, and impaired movement.
A. True
B. False
9. Which of the following is NOT one of the characteristics of Fragile X Syndrome?
A. FXS is the most common inherited form of IDD and is estimated to occur in 1 in 2,500 births
B. Because of chromosome differences, females tend to be more severely affected by FXS than males
C. Individuals with FXS can exhibit a range of cognitive impairment, with particular deficits in visual-spatial perception, attention, self-regulation, and short-term memory
D. Many individuals with FXS also exhibit symptoms of Autism Spectrum Disorders (ASDs) and some have seizures
10. Family adaptations to FXS include projects that facilitate development of support and services to maximize family well-being and provide important information about the ramifications of newborn screening.
A. True
B. False
11. Each of the following is an RDCRC function EXCEPT?
A. Collecting clinical information to develop biomarkers and new approaches to diagnosis, prevention, and treatment
B. Training new clinical investigators in rare diseases research
C. Facilitating collaboration across federal agencies and advocacy groups
D. Supporting a comprehensive and integrated approach to data collection, storage, and management
12. Down syndrome occurs in approximately one in 500 newborns, an incidence that has remained relatively constant for the past century in virtually every ethnic group in the world.
A. True
B. False
13. Approximately ___ of individuals with Down syndrome survive past the age of 60 years, and about ___ live almost to the age of 70 years.
A. 45%; 15%
B. 40%; 20%
C. 50%; 25%
D. 55%; 30%
14. Williams syndrome arises from deletions in a group of genes and has characteristics that include:
A. Congenital heart defects and abnormal calcium metabolism
B. Failure to thrive during infancy and moderate levels of intellectual impairment
C. Unique personality with increased friendliness
D. All of the above
15. Costello syndrome is a rare contiguous gene-deletion syndrome associated with missing genetic material on the short arm of chromosome 17.
A. True
B. False
16. PWS, an epigenetic disorder characterized by failure to thrive that leads to poor feeding in infancy and evolves into insatiable appetite, preoccupation with food, and risk of morbid obesity appears to be caused by:
A. Deletions of the paternal copy of chromosome 15q or imprinting defects of this region
B. Mutations in the MECP2 gene on the X chromosome
C. Point mutations in the UBE3A gene
D. Deletions of the maternal copy of a portion of chromosome 17
17. Researchers have detected neural differences in visual responses to food stimuli based on the food's composition and suitability for consumption, which may assist in addressing the problem of excessive food consumption in different forms of PWS.
A. True
B. False
18. Branch-funded clinical studies revealed that maladaptive and behavioral problems increased in PWS as age and intelligence quotient (IQ) increased.
A. True
B. False
19. Biochemical pathways are fundamental to normal body and brain function, and changes in those pathways can disrupt the processes and functions that rely on the pathway's products and byproducts.
A. True
B. False
20. Fetal hypoxia (low oxygen levels) can lead to severe hypoxic ischemic encephalopathy (HIE), a major problem worldwide with significant morbidity and mortality which occurs in _____ of every 1,000 term infants, and leads to death or severe lifelong problems in about ______of these infants.
A. 9-15; 65%
B. 7-13; 60%
C. 5-11; 55%
D. 3-9; 50%
21. Preterm infants are at risk for reduced blood flow and hemorrhage in the brain to the periventricular areas which can lead periventricular leukomalacia (PVL) and may cause:
A. Cerebral palsy and neurodevelopmental disabilities
B. Seizures and an ataxic gait
C. Distinctive craniofacial features
D. None of the above
22. Many mitochondrial disorders occur because of defects in nDNA genes, and organs with high energy demands, such as central nervous system, kidneys, skeletal muscle, heart, liver, eyes, ears, and pancreas are particularly susceptible to such disorders.
A. True
B. False
23. Recent Autism Spectrum Disorders prevalence estimates from the CDC are ten ASD children per 1,000 children.
A. True
B. False
24. National Institutes of Health (NIH)-sponsored efforts in autism research support studies on a range of autism topics including each of the following EXCEPT:
A. Early identification and intervention in infants at risk for ASDs potential
B. Environmental risk factors and biomarkers
C. Deficits in social cognition
D. Long-term effects of early intervention
25. Researchers following the development of social and communication skills in infants found that about ________ of the children with ASD could be diagnosed soon after their first birthdays, while others seem to develop normally until one year of age and then regress during their second year.
A. 60%
B. 50%
C. 40%
D. 30%
26. Although the diagnosis of an ASD is usually thought to be permanent, one NICHD study demonstrated that a portion of two-year-olds who had a diagnosis of ASD no longer had the diagnosis by age four years.
A. True
B. False
27. Persons with autism tend to focus on less-essential or even irrelevant aspects of the social environment, such as mouths or objects, rather than on the eyes or face as a whole, and as a result they miss key information for assessing the situation.
A. True
B. False
28. Which of the following is NOT one of the findings of research addressing early brain overgrowth-related issues in ASDs?
A. One study found a period of accelerated head growth during the first year of life, followed in the second year by slower head growth relative to the excessive early growth
B. MRIs of individuals with ASDs show increased volumes of a number of brain structures compared to typically developing TD individuals
C. Children with ASDs had an enlarged amygdala which was related to to "joint attention", the ability to share information and understand the thoughts and intentions of others
D. Infants who had a larger head circumference (HC) at age 12 months and greater HC deceleration between 12 months and 24 months of age were less likely to exhibit ASD symptoms
29. Although children with ASD show significantly poorer performance on skilled gestures beyond that expected from basic motor deficits, these impairments do not appear to be correlated with the social, communicative, and behavioral impairments characteristic of ASD.
A. True
B. False
30. Evidence shows that early interventions can improve language outcomes and social skills in high and lower-functioning children with ASDs.
A. True
B. False
31. Routine newborn screening has occurred at the state level since the 1970s, with the availability of screening tests varying significantly by state, and with few states evaluating the rationale for or efficacy of the tests systematically.
A. True
B. False
32. In 2008, congress passed the Newborn Screening Saves Lives Act (P.L. 110-204) to establish grant programs providing for education and outreach on newborn screening and to:
A. Coordinate follow-up care once newborn screening is conducted
B. Ensure the quality of laboratories involved in newborn screening activities
C. Identify new screening technologies and researching disease-management strategies for the conditions that such screening can detect
D. All of the above
33. The numerous ethical, behavioral, and social impacts of newborn screening have yet to be fully explored and understood, but researchers are investigating such topics as the reasons parents from diverse backgrounds decline or accept screening, and family or sociocultural factors related to screening decisions.
A. True
B. False
34. It is imperative to guide parents toward proven strategies, since in general, there are many interventions available for individuals with IDD with extensive empiric data supporting their utility and validity.
A. True
B. False
35. Testing of parents for carrier status for conditions associated with IDD is known as ____________ testing.
A. Pregenesis
B. Preantecedent
C. Preconceptional
D. Pregeneration
36. The adolescent brain is a unique entity with distinct neurobiological and neurochemical properties that may predispose to later development of neuropsychiatric disorders and addictions, and which also likely leads to particular vulnerabilities for adolescents with IDD conditions.
A. True
B. False
37. Adults with IDD often lack the ability to transition into adulthood since services or access to services decline greatly once they reach the age of 25.
A. True
B. False
38. IDD experts recommend a 'pathway' approach to research that could stimulate cross-thinking and would likely increase the impact of publications in the field and make findings more generally applicable and broadly disseminated.
A. True
B. False
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