Development Flashcards
Average weight of the brain at birth
375-400g
Average weight of the brain at the end of the first postnatal year
1000g
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
APGAR score
T/F: The development quotient (DQ) predicts potential attainment.
True
The most nearly perfect senses in the newborn
Touch and pain
T/F: As a general rule, the first recognizable words appear by the end of 12 months.
True
How many percent of children can articulate all vowel sounds by the age of 3 years.
90%
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.
Moro response
Part of the brain affected in congenital word deafness.
Dominant temporal cortex
Word-deaf children may chatter incessantly and often adopt a language of their own. This peculiar type of speech is known as:
Idioglossia
T/F: Nearly every stutterer is fluent while singing.
True
A special developmental disorder characterized by uncontrollable speed of speech which results in truncated, dysrhythmic and often incoherent utterances.
Cluttering
90% of patients with articulatory abnormalities disappear by what age?
8 years old
Point mutation in this gene causes an isolated developmental verbal dyspraxia
FOXP2
Region of the brain activated during reading in dyslexics
Broca’s area
Form of dysgraphia with good spontsneous handwriting but there is miswriting of dictated words.
Linguistic dysgraphia
In ADHD, there is reduction of the volume of these regions.
Dorsolateral, cingulate and striatal
Defined as hydrocephalus and destruction or failure of development of parts of the cerebrum
Hydranencephaly
Refers to a marked enlargement of one cerebral hemisphere as a result of a developmental abnormality
Hemimegalencephaly
A condition of craniostenoses combined with syndactyly
Apert syndrome (Acrocephalosyndactyly)
Distortion in the skull where the maximum length is not in the sagittal but in the diagonal plane.
Plagiocephaly (wry head)
During this time, almost 100% of patients with anencephaly will die.
Before the end of the first postnatal week
Gene with mutation causing lissencephaly with cerebellar hypoplasia
Reelin gene (RELN)
Primary form of hereditary microcephaly in which the head is reduced to less than 45cm circumference
Microcephaly vera
T/F: All patients with orofaciodigital syndrome are female.
True
Caused by deletions om chromosome 17 in which there is learning disability, severe behavioral problems, hyperactivity, deafness and ocular abnormalities.
Smith-Magenis syndrome
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.
True
Most frequent cutaneous abnormalities present at birth.
Hemangiomas
Eventration of brain tissue and its coverings through an unfused midline defect in the skull
Encephalocoele
T/F: A meningomyelocele is 10x as frequent as meningocele.
True
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.
Diastematomyelia
Type of chiari malformation without meningomyelocele
Chiari type 1
Most common form of inherited mental retardation
Fragile X syndrome
T/F: There is an increased incidence of myelocytic and lymphocytic leukemia, as well as Moya moya disease in Down syndrome.
True
Deletion in short arm of chromosome 5 characterized with abnormal cry and severe mental retardation.
Cri-du-chat syndrome
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.
Colpocephaly
The chromosomal abnormality appears to be due to a heritable, unstable CGG repeating sequence in the X chromosome.
Fragile X syndrome
Patients are identified by the “H3O” mnemonic referring to hypomentia, hypotonia, hypogonadism and obesity.
Prader-willi syndrome
Characterized by the triad of adenoma sebaceum, epilepsy and developmental delay.
Tuberous sclerosis
Two abnormal gene sites in tuberous sclerosis
1) long arm of chromosome 9 designated as TSC1 (hamartin)
2) short arm of chromosome 16 designated as TSC2 (tuberin)
Initial presentation of tuberous sclerosis in approximately 75% of cases
Occurrence of focal or generalized seizures or by slowed psychomotor development
T/F: As a general rule, early onset of seizures is predictive of developmental delay
True
Mode of inheritance of neurofibromstosis
Autosomal dominant
Constitute the most obvious clinical expression of NF1
Cafe-au-lait spots
Percentage of Sturge-weber patients with bilateral vascular nevus
25%
This autosomal dominant anomaly with the causative mutation in the VHL gene located on chromosome 3.
Von Hippel-Lindau disease
Neoplasm occurring in up to 60% of cases of von Hippel-Lindau disease
Renal cell cancer
The syndrome of congenital facial diplegia with convergent strabismus
Mobius syndrome
Convulsions often occur within this period in severe hypoxic-ischemic encephalopathy
Within 12 hours
Most common MRI change in cerebral palsy
Periventricular leukomalacia (42%)
Most frequent of the congenital extrapyramidal disorders.
Double athetosis
Serum bilirubin level in kernicterus
Greater than 25 mg/dl
Molar-tooth sign in MRI
Joubert syndrome
Cataract, deafness, congenital heart disease and developmental delay constitutes the tetrad diagnostic of this disease.
Congenital rubella
T/F: there is no treatment for the active infection of congenital rubella.
True
Mode of transmission of AIDS in children
Vertical transmission
The involved gene in Rett syndrome
MECP2
How many % of autistic children have normal or superior intelligence?
1%
A malformation consisting of cervical spina bifida accompanied by a cerebellar encephalocele
Type III chiari malformation
Best predictor of intelligence
Language
Most common form of craniosynostosis characterized by closure of sagittal fissure
Scaphocephaly
Most common developmental disorder
Learning disability
T/F: Macrocephaly is expected in Canavan disease
True
Most severe disorder of primary neurulation
Cranioschisis totalis
Process by which the brain and most of the spinal cord form.
Primary neurulation
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.
Neural crest
Primary signals involved in dorsal patterning
Bone morphologenetic protein (BMP) and Wnt protein
Most common site of encephalocele
Occipital
Most severe form of chiari malformation
Chiari type III
Last part of the corpus callosum to form
Rostrum
Lissencephaly with cerebellar hypoplasia is caused by mutations in this gene
Reelin gene (RELN)
T/F: Virtually no neurons are added after birth since the human newborn has the full complement of neurons.
True
Reserved for a milder phenotype of the spectrum of autism in which the early language development and IQ is normal
Asperger’s syndrome
The amount of this protein determines the severity and time of onset of SMA.
SMN2
Most common chromosomal anomaly but is not compatible with live birth
Trisomy 16
Autosomal recessive hereditary disease of connective tissue characterized by progressive dystrophic mineralization of elastic fibers.
Pseudoxanthoma elasticum
Vogt’s triad of tuberous sclerosis
Seizures, mental retardation, adenoma sebaceum
Type of Ehler-danlos syndrome presenting with neurologic dysfunction
Type IV
Organs not involved in tuberous sclerosis complex
Muscle and peripheral nerve roots
Main pathologic feature of Riley-Day Syndrome
Deficiency of neurons in the superior cervical ganglia and in the lateral horns of the spinal cord
Also referred to as the Louis-Bar syndrome
Ataxia-Telangiectasia
During gestation, at what week does gyri formation occur?
14 weeks
Patient stands up by using hands pushing on knees
Gower’s sign
Enzyme most commonly defective in nonketotic hyperglycemia
P (Pyridoxal phosphate-dependent glycine decarboxylase)
Urea cycle disorder with X-linked inheritance
Ornithine transcarbamoylase (OTC) deficiency
Treatment of GLUT-1 Deficiency
Ketogenic diet
Single most common lysosomal storage disorder
Gaucher disease
Most common chromosomal abnormality associated with Holoprosencephaly
Trisomy 13
The only leukodystrophies in which nystagmus has been an invariable finding
Cockayne syndrome and Pelizaeus-Merzbacher Disease
Most common MRI change in Cerebral palsy
Periventricular leukomalacia of prematurity
T/F: In spastic diplegia, usually the four extremities are affected but the legs much more than the arms.
True
Most frequent congenital extrapyramidal disorder
Double athetosis
Most frequent pathologic finding in the brain of double athetosis
Status marmoratus
Serum bilirubin level in kernicterus
Usually greater than 25mg/dl
The genetic phenomenon responsible for the clinical heterogeneity of mitochondrial disease
Heteroplasmy
