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Adams Principles of Neurology > Development > Flashcards

Development Flashcards

1
Q

Average weight of the brain at birth

A

375-400g

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2
Q

Average weight of the brain at the end of the first postnatal year

A

1000g

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3
Q

Universally used but somehow imprecise index of the well-being of the newly born infant, is in reality a numerical rating of the adequacy of brainstem-spinal mechanisms

A

APGAR score

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4
Q

T/F: The development quotient (DQ) predicts potential attainment.

A

True

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5
Q

The most nearly perfect senses in the newborn

A

Touch and pain

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6
Q

T/F: As a general rule, the first recognizable words appear by the end of 12 months.

A

True

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7
Q

How many percent of children can articulate all vowel sounds by the age of 3 years.

A

90%

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8
Q

It is the infant’s reaction to startle and can be invoked by suddenly withdrawing support of the head and allowing the neck to extend.

A

Moro response

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9
Q

Part of the brain affected in congenital word deafness.

A

Dominant temporal cortex

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10
Q

Word-deaf children may chatter incessantly and often adopt a language of their own. This peculiar type of speech is known as:

A

Idioglossia

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11
Q

T/F: Nearly every stutterer is fluent while singing.

A

True

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12
Q

A special developmental disorder characterized by uncontrollable speed of speech which results in truncated, dysrhythmic and often incoherent utterances.

A

Cluttering

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13
Q

90% of patients with articulatory abnormalities disappear by what age?

A

8 years old

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14
Q

Point mutation in this gene causes an isolated developmental verbal dyspraxia

A

FOXP2

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15
Q

Region of the brain activated during reading in dyslexics

A

Broca’s area

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16
Q

Form of dysgraphia with good spontsneous handwriting but there is miswriting of dictated words.

A

Linguistic dysgraphia

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17
Q

In ADHD, there is reduction of the volume of these regions.

A

Dorsolateral, cingulate and striatal

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18
Q

Defined as hydrocephalus and destruction or failure of development of parts of the cerebrum

A

Hydranencephaly

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19
Q

Refers to a marked enlargement of one cerebral hemisphere as a result of a developmental abnormality

A

Hemimegalencephaly

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20
Q

A condition of craniostenoses combined with syndactyly

A

Apert syndrome (Acrocephalosyndactyly)

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21
Q

Distortion in the skull where the maximum length is not in the sagittal but in the diagonal plane.

A

Plagiocephaly (wry head)

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22
Q

During this time, almost 100% of patients with anencephaly will die.

A

Before the end of the first postnatal week

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23
Q

Gene with mutation causing lissencephaly with cerebellar hypoplasia

A

Reelin gene (RELN)

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24
Q

Primary form of hereditary microcephaly in which the head is reduced to less than 45cm circumference

A

Microcephaly vera

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25
Q

T/F: All patients with orofaciodigital syndrome are female.

A

True

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26
Q

Caused by deletions om chromosome 17 in which there is learning disability, severe behavioral problems, hyperactivity, deafness and ocular abnormalities.

A

Smith-Magenis syndrome

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27
Q

T/F: It is not surprising that the skin and nervous system should share in pathologic states that impair development, as both have a common ectordermal derivation.

A

True

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28
Q

Most frequent cutaneous abnormalities present at birth.

A

Hemangiomas

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29
Q

Eventration of brain tissue and its coverings through an unfused midline defect in the skull

A

Encephalocoele

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30
Q

T/F: A meningomyelocele is 10x as frequent as meningocele.

A

True

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31
Q

Unusual abnormality where a bony spicule or fibrous band protrudes into the spinal canal from the body of one of the thoracic or upper lumbar vertebrae and divides the spinal cord into halves for a variable vertical extent.

A

Diastematomyelia

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32
Q

Type of chiari malformation without meningomyelocele

A

Chiari type 1

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33
Q

Most common form of inherited mental retardation

A

Fragile X syndrome

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34
Q

T/F: There is an increased incidence of myelocytic and lymphocytic leukemia, as well as Moya moya disease in Down syndrome.

A

True

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35
Q

Deletion in short arm of chromosome 5 characterized with abnormal cry and severe mental retardation.

A

Cri-du-chat syndrome

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36
Q

Malformation of the brain consisting of marked dilatation of the occipital horns of the lateral ventricles, thickening of the overlying rim of cortical gray matter and thinning of the white matter.

A

Colpocephaly

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37
Q

The chromosomal abnormality appears to be due to a heritable, unstable CGG repeating sequence in the X chromosome.

A

Fragile X syndrome

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38
Q

Patients are identified by the “H3O” mnemonic referring to hypomentia, hypotonia, hypogonadism and obesity.

A

Prader-willi syndrome

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39
Q

Characterized by the triad of adenoma sebaceum, epilepsy and developmental delay.

A

Tuberous sclerosis

40
Q

Two abnormal gene sites in tuberous sclerosis

A

1) long arm of chromosome 9 designated as TSC1 (hamartin)

2) short arm of chromosome 16 designated as TSC2 (tuberin)

41
Q

Initial presentation of tuberous sclerosis in approximately 75% of cases

A

Occurrence of focal or generalized seizures or by slowed psychomotor development

42
Q

T/F: As a general rule, early onset of seizures is predictive of developmental delay

A

True

43
Q

Mode of inheritance of neurofibromstosis

A

Autosomal dominant

44
Q

Constitute the most obvious clinical expression of NF1

A

Cafe-au-lait spots

45
Q

Percentage of Sturge-weber patients with bilateral vascular nevus

A

25%

46
Q

This autosomal dominant anomaly with the causative mutation in the VHL gene located on chromosome 3.

A

Von Hippel-Lindau disease

47
Q

Neoplasm occurring in up to 60% of cases of von Hippel-Lindau disease

A

Renal cell cancer

48
Q

The syndrome of congenital facial diplegia with convergent strabismus

A

Mobius syndrome

49
Q

Convulsions often occur within this period in severe hypoxic-ischemic encephalopathy

A

Within 12 hours

50
Q

Most common MRI change in cerebral palsy

A

Periventricular leukomalacia (42%)

51
Q

Most frequent of the congenital extrapyramidal disorders.

A

Double athetosis

52
Q

Serum bilirubin level in kernicterus

A

Greater than 25 mg/dl

53
Q

Molar-tooth sign in MRI

A

Joubert syndrome

54
Q

Cataract, deafness, congenital heart disease and developmental delay constitutes the tetrad diagnostic of this disease.

A

Congenital rubella

55
Q

T/F: there is no treatment for the active infection of congenital rubella.

A

True

56
Q

Mode of transmission of AIDS in children

A

Vertical transmission

57
Q

The involved gene in Rett syndrome

A

MECP2

58
Q

How many % of autistic children have normal or superior intelligence?

A

1%

59
Q

A malformation consisting of cervical spina bifida accompanied by a cerebellar encephalocele

A

Type III chiari malformation

60
Q

Best predictor of intelligence

A

Language

61
Q

Most common form of craniosynostosis characterized by closure of sagittal fissure

A

Scaphocephaly

62
Q

Most common developmental disorder

A

Learning disability

63
Q

T/F: Macrocephaly is expected in Canavan disease

A

True

64
Q

Most severe disorder of primary neurulation

A

Cranioschisis totalis

65
Q

Process by which the brain and most of the spinal cord form.

A

Primary neurulation

66
Q

Gives rise to the dorsal root ganglia, sensory and parasympathetic ganglia of cranial nerves, autonomic ganglia, schwann cells, melanocytes, chromaffin cells and pia and arachnoid layer of the meninges.

A

Neural crest

67
Q

Primary signals involved in dorsal patterning

A

Bone morphologenetic protein (BMP) and Wnt protein

68
Q

Most common site of encephalocele

A

Occipital

69
Q

Most severe form of chiari malformation

A

Chiari type III

70
Q

Last part of the corpus callosum to form

A

Rostrum

71
Q

Lissencephaly with cerebellar hypoplasia is caused by mutations in this gene

A

Reelin gene (RELN)

72
Q

T/F: Virtually no neurons are added after birth since the human newborn has the full complement of neurons.

A

True

73
Q

Reserved for a milder phenotype of the spectrum of autism in which the early language development and IQ is normal

A

Asperger’s syndrome

74
Q

The amount of this protein determines the severity and time of onset of SMA.

A

SMN2

75
Q

Most common chromosomal anomaly but is not compatible with live birth

A

Trisomy 16

76
Q

Autosomal recessive hereditary disease of connective tissue characterized by progressive dystrophic mineralization of elastic fibers.

A

Pseudoxanthoma elasticum

77
Q

Vogt’s triad of tuberous sclerosis

A

Seizures, mental retardation, adenoma sebaceum

78
Q

Type of Ehler-danlos syndrome presenting with neurologic dysfunction

A

Type IV

79
Q

Organs not involved in tuberous sclerosis complex

A

Muscle and peripheral nerve roots

80
Q

Main pathologic feature of Riley-Day Syndrome

A

Deficiency of neurons in the superior cervical ganglia and in the lateral horns of the spinal cord

81
Q

Also referred to as the Louis-Bar syndrome

A

Ataxia-Telangiectasia

82
Q

During gestation, at what week does gyri formation occur?

A

14 weeks

83
Q

Patient stands up by using hands pushing on knees

A

Gower’s sign

84
Q

Enzyme most commonly defective in nonketotic hyperglycemia

A

P (Pyridoxal phosphate-dependent glycine decarboxylase)

85
Q

Urea cycle disorder with X-linked inheritance

A

Ornithine transcarbamoylase (OTC) deficiency

86
Q

Treatment of GLUT-1 Deficiency

A

Ketogenic diet

87
Q

Single most common lysosomal storage disorder

A

Gaucher disease

88
Q

Most common chromosomal abnormality associated with Holoprosencephaly

A

Trisomy 13

89
Q

The only leukodystrophies in which nystagmus has been an invariable finding

A

Cockayne syndrome and Pelizaeus-Merzbacher Disease

90
Q

Most common MRI change in Cerebral palsy

A

Periventricular leukomalacia of prematurity

91
Q

T/F: In spastic diplegia, usually the four extremities are affected but the legs much more than the arms.

A

True

92
Q

Most frequent congenital extrapyramidal disorder

A

Double athetosis

93
Q

Most frequent pathologic finding in the brain of double athetosis

A

Status marmoratus

94
Q

Serum bilirubin level in kernicterus

A

Usually greater than 25mg/dl

95
Q

The genetic phenomenon responsible for the clinical heterogeneity of mitochondrial disease

A

Heteroplasmy

Adams Principles of Neurology (19 decks)

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