CCP 334 The Mentally Impaired Patient

Question 1

Define and describe Intellectual Disability (ID)

Answer 1

1. Intellectual disability (ID) is a neurodevelopmental disorder that begins in childhood and is characterized by limitations in both intelligence and adaptive skills, affecting at least one of three adaptive domains (conceptual, social, and practical), with varying severity
2. The extent of adaptive impairment is key to defining ID and its severity.
3. The term ID replaces the older term of “mental retardation”

Question 2

Define and describe down syndrome

Answer 2

1. genetic condition → developmental delays, mild to moderate intellectual disability, and physical malformations
2. The characteristic dysmorphic features of Down syndrome (DS) predominantly affect the head and neck and the extremities.
3. near all individuals with DS have cognitive impairment. Most are mildly to moderately intellectually disabled, some are severely impaired.
4. Approximately one-half of individuals with DS have congenital heart disease.
5. Endocrine abnormalities in DS include thyroid dysfunction and type 1 diabetes
6. Hematologic abnormalities affecting red cells, white cells, and platelets are common in DS
7. Individuals with DS are at increased risk of atlantoaxial instability (AAI), defined as excessive mobility of the articulation of the atlas (C1) and the axis (C2)
8. DS is associated with a variety of immunologic impairments leading to increased susceptibility to infection, autoimmune disorders, and malignancies

Question 3

Fetal alcohol syndrome (FAS) describe and define

Answer 3

1. Alcohol is a teratogen with irreversible CNS effects. It has the potential to cause deleterious effects at all stages of gestation
2. Fetal alcohol syndrome (FAS) encompasses the range of physical, mental health, behavioral, and cognitive effects that can occur in individuals with prenatal alcohol exposure
3. Characteristic features of FAS include:

• Facial dysmorphism, particularly short palpebral fissures, thin vermillion border, and smooth philtrum
• Intrauterine and/or postnatal growth retardation
• Microcephaly
• Structural brain anomaly
• Recurrent nonfebrile seizures
• Developmental, learning, and cognitive problems, including school failure
• Behavioral problems (eg, hyperactivity, impaired executive functioning skills)
• Social-emotional problems

Question 4

KEY FEATURE to remember for Downs Syndrome in TRAUMA

Answer 4

1. Individuals with DS are at ↑ risk of atlantoaxial instability (AAI), defined as excessive mobility of the articulation of the atlas (C1) and the axis (C2)
2. they are at ++ ↑ risk for high C-spine fracture
3. have a ++ index of suspicion for cervical spine injury in trauma. be careful when you’re tubing them

Question 5

Fragile X syndrome define and describe

Answer 5

1. genetic condition → developmental problems including learning disabilities and cognitive impairment
2. FXS is an “X-linked disorder”. caused by fucked up FMR1 gene
3. Classic physical features include long and narrow face with prominent forehead and chin, large ears, and testicular enlargement
4. Intellectual disability is usually in the moderate range
5. Behavioral features may include hyperactivity, inattention, gaze aversion, stereotypic movements (eg, hand flapping, hand biting), hyperarousal, social anxiety, and unusual speech

Question 6

Prader-Willi syndrome define and describe

Answer 6

1. intellectual + developmental genetic disorder caused by fucked up chromosome 15
2. characterized during infancy by lethargy, diminished muscle tone (hypotonia), weak suck and feeding difficulties with poor weight gain and growth and other hormone deficiency
3. In childhood, features of this disorder include short stature, small genitals and an excessive appetite. Affected individuals do not feel satisfied after completing a meal (satiety). Without intervention, overeating can lead to onset of life-threatening obesity
4. All individuals with PWS have some cognitive impairment that ranges from low normal intelligence with learning disabilities to mild to moderate intellectual disability. Behavioral problems are common and can include temper tantrums, obsessive/compulsive behavior, and skin picking