Cognitive Decline in Childhood or Young Adulthood

Question 1

what characterizes cognitive decline in childhood/young adulthood?

Answer 1

cognitive deterioration (dementia)

Question 2

what are the patterns of neuropsychological deterioration? (4)

Answer 2

• normally develop, development slows, plateaus, then declines
• normal development slows (but no loss), begins to lag behind peers
• acute and rapid decline followed by no further development (following TBI)
• acute and rapid decline followed by slow but ‘normal’ cognitive development (e.g., TBI)

Question 3

what are the characteristics of lysosomal storage diseases? (2)

Answer 3

• deficiencies in lysosomal enzymes

- accumulation of unwanted proteins in lysosomes - cellular ballooning and then death

Question 4

what are the lysosomal storage diseases? (4)

Answer 4

• Tay-Sachs disease: early infancy, mortality by 2-4 yrs
• Niemann-Pick disease: infancy (ranges), mortality by midage
• metachromatic leukodystrophy: demyelination of CNS; motor and cognitive deficits; adolescent onset
• Hurler syndrome: late infancy; macrocephaly, etc; mortality by 10 yrs

Question 5

what causes neuronal ceroid lipofuscinosis disorders?

Answer 5

lipopigment accumulation

Question 6

what are the neuronal ceroid lipofuscinosis disorders? (3)

Answer 6

• Jansky-Bielschowsky disease: late infancy onset; mortality by 11
• Batten disease: onset 4-9 yrs; vision loss; mortality by late teens or 20s
• Kuf’s disease: onset 15-25 yrs; myoclonic epilepsy or personality changes and dementia

Question 7

what causes aminoacidopathies?

Answer 7

aminoacidic disruptions

Question 8

what are the characteristics of phenylketonuria? (5)

Answer 8

• autosomal recessive
• variability in severity and intellectual decline
• can be treated with diet
• if caught early, patient appears fairly cognitively intact with deficits restricted to attention/executive functioning, word retrieval, memory problems
• if untreated leads to intellectual decline and seizures

Question 9

what are the characteristics of acute disseminated encephalomyelitis? (4)

Answer 9

• occurs following an infection (viral or bacterial)
• recovery can be complete, but not for all. Adult onset more likely to recover
• most often occurs before 10 yrs old
• acute symptoms: flu like, seizures, stiff neck

Question 10

what are the characteristics of Rassmussen’s Encephalopathy? (5)

Answer 10

• autoimmune disease
• unilateral symptoms, move bilaterally
• hemiparesis
• progressive seizures
• can have unilateral neuropsychological impairments

Question 11

what are the characteristics of vitamin B12 deficiency? (2)

Answer 11

• most commonly due to poor absorption rather than lack of exposure
• intellectual disability can occur; general cognitive decline

Question 12

what are the symptoms associated with vitamin B12 deficiency in infants?

Answer 12

failure to thrive (not gaining weight or meeting developmental milestones)

Question 13

what are the symptoms associated with vitamin B12 deficiency in childhood? (3)

Answer 13

• weakness
• sore tongue
• parethesias

Question 14

what are the symptoms associated with vitamin B12 deficiency in adolescence? (4)

Answer 14

• weakness/fatigue
• nausea
• constipation
• paresthesias of toes and fingers

Question 15

what are the characteristics of Galactosemia? (4)

Answer 15

• cannot metabolize lactose
• occurs from birth
• jaundice and anorexia are common; failure to thrive
• lactose free diet can help but deficits still occur

Question 16

what are the characteristics of Rett syndrome? (2)

Answer 16

• symptoms become apparent by 18 months

- normal development followed by a reversal in cognitive and motor function

Question 17

what are the 2 main categories of hydrocephalus?

Answer 17

congenital: problems with brain development
acquired: something causes the problem

Question 18

what can cause hydrocephalus? (3)

Answer 18

• obstruction of CSF
• insufficient absorption of CSF
• excessive secretion of CSF

Question 19

what are the 2 main types of hydrocephalus?

Answer 19

communicating (absorption) and noncommunicating (obstruction)

Question 20

what is a common treatment option for hydrocephalus?

Answer 20

ventricular-peritoneal shunt

Question 21

what are the characteristics of pseudotumor cerebri (idiopathic intracranial hypertension? (3)

Answer 21

• increased intercranial pressure
• headache, fatigue, blurred vision, nausea/vomiting or diplopia, visual field loss
• optic nerve damage might occur even if controlled

Question 22

what are the treatment options for idiopathic intracranial hypertension? (3)

Answer 22

• diuretics
• weight loss
• shunting

Question 23

what are the characteristics of sickle cell disease? (4)

Answer 23

• autosomal recessive
• red blood cells clump together
• multisystemic involvement
• waxing and waning course

Question 24

what are the characteristics of HIV associated progressive encephalopathy (HPE)? (2)

Answer 24

• exposure to HIV at birth or in breastmilk

- learning disorders, neuropsychological impairments if left untreated

Question 25

what are the symptoms associated with infant exposure to HPE?

Answer 25

developmental delays

Question 26

what are the symptoms associated with childhood exposure to HPE?

Answer 26

slowed developmental milestone attainment

Question 27

what are the characteristics of cerebral autosomal dominant arteriopathy with subcortical infarct and leukoenceohalopathy (CADASIL)? (3)

Answer 27

- early adulthood onset - migraines (leads to strokes and dementia) - subcortical dementia profile

Question 28

what are the characteristics of Wilson's disease (hepatolenticular degeneration)? (5)

Answer 28

- autosomal recessive disorder - copper accumulation - onset ages 10-14 for hepatic symptoms; 20s for neurological symptoms - jaundice, green-brown ring around cornea - motor symptoms: tremors, complex attention/EF. memory, visuoconstructional neurpsychological deficits