Brain development & childhood disorders Flashcards Preview

ABPP > Brain development & childhood disorders > Flashcards

Flashcards in Brain development & childhood disorders Deck (107):
1

Fetal alcohol syndrome diagnosis requires abnormalities in what 3 domains?

Growth deficiency, specific pattern of facial anomalies, evidence of CNS dysfx

1

Klinefelter syndrome

Extra X chromosome XXY VIQ

1

Neimann-Pick disease Type C

Seizures, gradual onset of dementia, motor abnormalities, mortality by age 40; includes diffuse atrophy with NFTs throughout cerebral cortex & cerebellum

2

From what germ cell layer do the meninges arise?

Mesoderm

2

Neuropsychological outcomes of spina bifida

Motor speech deficits, lower than expected overall cognitive ability, nonverbal < verbal, deficits in reading & listening comprehension likely due to difficulties in making inferences, explicit memory deficits, difficulty w/ attentional control, higher rate of behavioral problems, problems with self-esteem, & adaptive bx

2

If perinatal stroke is large, how does the brain compensate?

Rely on small portion of corticospinal tract that does not cross (uninjured hemisphere to paretic limb)

2

Periventricular leukomalacia

Injury in the periventricular white matter; can affect migration of fibers to the cortex

3

If perinatal stroke is small, how does the brain compensate?

Show intact crossing of corticospinal connections from injured hemisphere to paretic limb

4

Primary processes responsible for brain damage in VLBW/VPTB

hypoxic ischemia w/ associated deprivation of oxygen & glucose, exposure to fetal & maternal infection

5

Full-term perinatal stroke is most commonly seen in the distribution of what artery? Pre-term perinatal stroke is more often associated with?

MCA; periventricular hemorrhagic infarctions

6

Migration

Neuroblasts move to permanent location via radial glia; problems can lead to neurons in the wrong layer of the brain, abnormal connections

7

Ataxia-telangiectasia

Abnormality on chromosome 11 that interferes with DNA repair Progressive ataxic gait due to degeneration of cerebellar vermis; develop telangiectasis of the conjunctiva , chronic sinus & respiratory infections

8

Patau syndrome

Trisomy 13; Microcephaly & sloping head, lowest ears, cleft lip & palate, impaired hearing, severe MR, death in early childhood

9

Neurobehavioral outcome in patients with VLBW/VPTB

Deficits in motor/perceptual motor, exec dysfx, problems in math & sometimes reading, attention, memory

9

Effects of lead poisoning in children (blood lead concentrations exceeding 60-80 pg/dL)

Early symptoms - abdominal pain & arthralgia Progressive encephalopathy characterized by lethargy, anorexia, irritability, ataxia, loss of mental developmental milestones Doss-related declines in IQ, particular effects on attention/exec fx & visuospatial skills

10

Effects of prenatal maternal stress on cognition & behavior

LBW, hyperactive, irritable, irregular feeding, sleeping, bowel movements, crying

11

Angelman syndrome

Due to deletion on chromosome 15 inherited from mother Stereotyped involuntary & jerky-ataxic voluntary movements, smiling face, paroxysms of unprovoked laughter Assoc. w/ motor & severe MR, microcephaly, epilepsy

11

Pruning

Elimination of neuronal overproduction

12

Megalencephaly

Large head circumference (>2 SDs above the mean); involves increased #s of neurons & glial Typically MR, but may be mild

13

Common brain abnormalities associated with VLBW/VPTB

hemorrhagic infarctions associated with germinal matrix IVH, ventriculomegaly, periventricular leukomalacia

14

3 stages of Piaget's constructivism

1) Sensorimotor (0-2): object permanence, causality, symbolic/representational thought 2) Preoperational (2-7): limited by magical thinking, animism, egocentrism, lack of conservation 3) Concrete Operational (7-11): learn conservation, reflective self 4) Formal Operational (11+): abstraction, relativism, hypothetical-deductive reasoning

14

Polymicrogyria

Development of many small gyri; associated with LD, severe MR, epilepsy

15

XYY syndrome

Tendency toward higher activity levels, more negative mood, temper tantrums Delayed speech acquisition & other neurodevelopmental milestones, psych difficulties, avg-below normal IQ

16

Describe the pattern of CNS development (i.e., direction)

Head -> tail (cephalic -> caudal); near -> far (proximal -> distal), inferior -> dorsal (subcortical -> cortical)

17

Agenesis of the corpus callosum is associated with an increased incidence of what psychopathology?

Schizophrenia

18

What are some influences on prenatal brain development?

Physiology of egg & sperm, intrauterine environment, genetic transmission, errors, mutations, mother's stress hormones & self-care behaviors

19

Sturge-Weber syndrome

Facial (port wine stain in region of CN V) & cerebrovascular malformations Tend to have MR, LD, behavioral disturbances, refractory epilepsy, may also have focal deficits depending on sit of lesion

19

Hurler syndrome (MPSI)

Autosomal recessive disease with genetic abnormality on chromosome 4, results in glycosaminoglycans (GAGs) not being degraded properly by lysosomes

20

Neurobehavioral consequences of prenatal exposure to rubella

Classic triad: heart disease, vision problems, hearing loss

20

Cranium bifidum & encephalocele

Skin-covered brain, meninges, or CSF protrudes through the skull defect

21

Spina bifida affects the development of the brain in what 2 major ways?

1) failure of neuroembryogenesis results in anomalies in the regional development of the brain 2) children w/ myeloceningocele experience additional injury to the brain b/c of hydrocephalus & its treatment

21

How is language development affected by perinatal stroke?

Order of emergence of skills remains the same but demonstrate delays at each new level of linguistic challenge regardless of which hemisphere is involved In RH stroke, LH remains dominant; B representations emerge in LH stroke

21

Prader Willi syndrome

Deletion on chromosome 15 inherited from father Obese, hyperphagia, poorly controlled food-seeking behavior, MR, OC personality, major language production deficits, hypogonadism, outbursts of aggressive behavior

22

2 types of periventricular leukomalacia

Cystic (lesions around ventricles), noncystic (WM injury)

24

What portion of children with myelomeningocele are missing one or more parts of the corpus callosum?

about 1/2

24

Untreated PKU leads to

Severe MR, decreased attention, lack of responsiveness to environmental stimuli, seizures, spasticity, hyperactive reflexes, tremors, psych illness

25

What are the 4 major concurrent aspects of cytodifferentiation?

1) Development of cell body 2) Selective cell death (40-75% of all neurons die during development) 3) Axonal & dendritic development 4) Synaptogenesis

26

Williams syndrome

Disruption of elastic properties of arteries, root of aorta, skin, & other organs No gross neuro abnormalities but motor delays & fine & gross motor clumsiness; mild-mod MR; imparied reading & writing, visuospatial deficits, difficulty w/ nonverbal tests

26

Duchenne muscular dystrophy

Absence of dystrophin in muscle; associated with mild MR

27

White matter abnormalities associated with perinatal stroke

Decreased CC size related to sections that would have connected the affected site to the other hemisphere, decreased white matter volume in uninjured hemisphere

28

Which part of the brain is last to be myelinated?

Prefrontal areas

30

Cerebellum development follows a ______ pattern

Outside-in

31

In what ways can treatment for childhood cancer effect the CNS?

Cortical atrophy, leukoencephalopathy, mineralizing microangiopathy

32

When do neural tube defects occur?

3-4 weeks gestation

33

Risk factors for childhood psychopathology

Severe marital discord, low SES, overcrowding, parent criminality, maternal psychopathology, child placed outside the home

34

Dandy-Walker malformation

Posterior portion of the upper neural tube fails to develop, child is born with rudimentary posterior brain structures; frequent severe mental retardation

35

What maternal infections have significant effects on prenatal development?

Syphilis, toxoplasmosis, rubells, cytomegalovirus, herpes simplex, mumps, hepatitis, chicken pox

36

Lissencephaly

Agyria or pachygyria caused by arrest of migration of neuroblasts from periventricular matrix to cortex Assoc. w/ severe growth & developmental retardation, decreased spontaneous activity, difficulty swallowing or eating, minimal response to visual or auditory stimuli

37

Tay Sachs disease

Lysosomal storage disorder Primarily affects Ashkenazi Jews

37

Neimann-Pick disease Type B

Visceral form, little to no neuro involvement, survival into teens or early adulthood

38

NP deficits associated with childhood cancer treatment

10 pt drop in IQ; nonverbal < verbal; arithmetic < reading; nonverbal memory < verbal memory, attention problems, difficulty focusing & planning responses, exec deficits, diminished response time & motor speed

39

Even when treated, patients with PKU may show

Exec fx deficits, ADHD symptoms, < avg IQ

40

Spina bifida occulta

Occurs when vertebral arches fail to close, resulting in an opening in the spine but no other abnormalities in spinal cord or sac; may be present in at least 5% of the general population

42

Which subtype of cerebral palsy is most closely related to prematurity?

Spastic paresis

43

What is the age of peak incidence of acute lymphoblastic leukemia

3-5 years

44

Neurofibromatosis Type II

B acoustic neuromas that impair hearing until deaf

45

Bronfenbrenner's ecological model

Microsystem (family, school) Mesosystem (microsystems interacting) Macrosystem (environment/society) Exosystem (environmental influences on microsystem)

47

Hallmark feature of fetal alcohol exposure

Attention deficit; also see exec fx deficits throughout lifespan

48

Porencephaly

Large cystic lesion develops due to disturbed cortical development between months 5-7 gestation

49

Cognitive profile of Down's syndrome

Mean IQ ~ 44.3 Visuospatial abilities generally preserved & language impaired, motor delays, intact social skills, poor memory

50

When to brain divisions occur in the embryo?

5-7 weeks

52

Acute disseminated encephalomyelitis

Acute demyelinating disease that typically follows infection

53

Critical periods

A window of opportunity during which skills need to be consolidated so that that particular system can then establish interconnections with other systems

54

Aggregation

Cellular masses or layers are formed by lamination, w/ neurons adhesing together or aligning with neighbors

55

Tuberous sclerosis

Sclerotic masses (scarring due to glial overgrowth) form in cerebral cortex, usually resulting in MR & epilepsy; also results in adenoma sebaceum (nodules on face)

57

Resiliency factors against childhood psychopathology

Reduced stress, easy temperament, stable support

59

Cerebral hemisphere development follows a ______ pattern

inside-out

61

What complications/disabilities are associated with cerebral palsy?

MR, cognitive dysfx, epilepsy, vision/hearing impairments, LD, language disorders, psych problems, pseudobulbar palsy, hyperactivity

62

Lesch-Nyhan disorder

Inborn error of purine meatbolism leading to increased levels of uric acid in blood & urine MR in most, movement disorder including choreoathetosis & spasticity, self mutilation

64

Stages of prenatal brain development

Proliferation, migration, aggregation, cytodifferentiation, pruning

65

Cerebral palsy

Permanent, nonprogressive neurologic motor system impairment resulting from CNS injuries of the immature brain

66

3 main processes for CNS elaboration

Dendritic arborization, myelination, synaptogenesis

67

Presentation of cri-du-chat syndrome

Abnormal cry like a kitten, severe MR, epicanthal folds, moon face

69

Which subtype of cerebral palsy is less likely to be associated with epilepsy or MR?

Extrapyramidal

70

Teratogens

Substances that can cross the placenta and lead to birth defects

72

Meningocele

Malformation in which the meninges alone herniate through the spinal defect, creating a sac that is filled with cerebral spinal fluid; can affect ambulation, bladder/bowel control

73

Neurobehavioral consequences of prenatal cocaine exposure

Small for gestational age, seizures, LBW, exaggerated startle, increased tone & motor activity, impaired fine motor coordination, auditory impairments, high-pitched cry, sleep & feeding problems, difficulty to comfort, developmental delays, bx & attentional problems

74

Acute lymphoblastic leukemia

Cancer of blood-forming cells in bone marrow

76

Two subtypes of cerebral palsy

Spastic paresis (most common), extrapyramidal

77

Proliferation

Cell generation by mitosis inside the neural tube; problems can lead to fewer neurons at the beginning of life (e.g, MR)

78

Global cognitive & academic deficits associated with VLBW/VPTB

Low average range, higher rates of grade retention & sped, internalizing & externalizing behavior, smaller than peers

80

Neurofibromatosis Type I

Triad of cafe au lait spots, neurofibromas, & Lisch nodules Assoc. w/ LD & ADHD, MR-avg IQ, deficits in language, reading, spelling, exec fx, visuospatial, visuomotor skills

81

Effects of low-level prenatal lead exposure

Mild growth retardation in utero & mild developmental delay up to ages 1-2, recovery by school age

82

What are the three main processes for CNS elaboration?

Dendritic arborization, myelination, synaptogenesis

83

Turner's syndrome

XO; no consistent NP profile, but at risk for NVLD; small stature, poorly developed secondary sex characteristics, sexual dysfx in puberty/adulthood, webbed neck, broad chest

84

Edwards syndrome

Trisomy 18; slow growth, seizures, severe MR, lowest ears, mottled skin, clenched fist with 3rd finger over index finger, death in early infancy

86

How is visual pattern processing affected by perinatal stroke?

Do not show progression from piecemeal to global-local integration at 10-12 years old RH stroke = retention of details/local characteristics but no global characteristics; LH stroke = retention of global characteristics w/ paucity of details

87

CNS abnormalities seen in Turner's syndrome

Increased ventricular volume, increased CSF, decreased gray matter & white matter in parietal/occipital lobe

88

Risk factors associated with childhood cancer treatment effects

Age (

89

Leukodystrophies

Inherited deficiency of a specific enzyme; abnormalities interfere with enzyme or protein synthesis; results in buildup of neurotoxins in the brain

91

Clinical presentation of acute disseminated encephalomyelitis

Confusion, somnolence, seizures, fever, stiffness of neck, ataxia, myoclonus, choreoathetosis

92

Heterotopias

Focal abnormalities of cortical cytoarchitecture; areas of disordered layering & displaced cells Reported in patients with epilepsy & LD

93

Which syndrome is often associated with extraordinary talents in music & verbal fluency?

Williams syndrome

94

Chiari II malformation

Small cerebellum & brainstem, herniation of cerebellum & portions of medulla & pons through an enlarged foramen magnum

95

Risk factors for negative outcome in VLBW/VPTB

Lower birthweight, younger gestational age, neonatal neurological complications of IVH & PVL, chronic lung disease, environmental disadvantages

95

Hydranencephaly

Cerebral hemispheres replaced by cystic sacs containing CSF

96

Environmental influences on development of spina bifida

Folic acid deficiency, maternal diabetes & obesity, maternal illness & hyperthermia

97

Neimann-Pick disease

Group of inherited disorders causing disruption in individual's ability to metabolize cholesterol & other lipids

99

Rett's syndrome

After 6 months of normal development, regression in all areas of psychomotor development over several years leading to profound MR, acquired microcephaly Abnormality is assumed lethal in males

100

What type of glia are involved in migration?

Radial glia & Bergmann glia

101

Neimann-Pick disease Type A

Severe neurological & physical deficits, death by age 4

102

Cytodifferentiation

Development of cells into different functions, formation of axonal & dendritic processes

103

Neurobehavioral consequences of prenatal narcotic exposure

Neonatal abstinence syndrome, LBW, small head, SIDS, childhood academic problems

104

Females with Fragile X syndrome present with

Relative strengths in verbal & facial recognition, relative weaknesses in visuospatial processing & exec fx

105

Myelomeningocele

Involves the protrusion of spinal cord along with the meninges through the spinal defect; more likely to be associated with severe brain abnormalities or major neurobehavioral deficits

106

Neuropsychological deficits associated with acute disseminated encephalomyelitis

Deficits in attention/concentration, memory, language, visuoperception, executive, and/or motor skills Can see global impairment after recovery with severe ADEM, assoc. w/ the extent of underlying neuropathology present

107

Effects of maternal cytomegalovirus on fetus

Enlargement of spleen & liver, intrauterine growth retardation, various congenital malformations, damage to visual & auditory systems, microcephaly, MR