Congenital and Developmental Disorder of the Nervous System

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jknell
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196988
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Congenital and Developmental Disorder of the Nervous System
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2013-01-31 22:27:30
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MBB II
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MBB II
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  1. Congenital
    "exists at birth"

    -does not necessarily imply genetic
  2. Developmental
    -delay in achieving developmental milestones
  3. Developmental Delay
    -failure to achieve cognitive or motor milestones

    • Four Spheres
    • 1. Language
    • 2. Socialization
    • 3. Gross Motor
    • 4. Fine Motor

    Global = all four spheres

    • Causes:
    • 1. Genetic
    • 2. Metabolic
    • 3. Cerebral dysgenesis
    • 4. Perinatal injury
    • 5. Infection of CNS (meningitis)
    • 6. Chronic illness
  4. Mental Retardation
    • -delayed cognitive milestones will not be achieved
    • -significant limitations in at least two areas of adaptive vehaviour
    • -IQ < 70

    *** no consensus on when to switch diagnosis from developmental delay to mental retardation
  5. Developmental Regression
    -loss of milestones that had previously been achieved

    -high on the ddx: neurodegenerative processes
  6. Learning Disabilities
    -disorders that affect the ability to learn specific subject areas (reading, math, spelling, listening, oral expression)

    -dyslexia: most common and well-known learning disability

    • Epidemiology:
    • -disproportionally ID'd in US (may be a social construct)
    • -more likely in children with brain injury
    • -more likely in children with low socioeconomic status

    • "Discrepancy Model"
    • -not commensurate with overall intellectual ability

    • Dyslexia Pathology:
    • -anomalies of cerebral cortex
    • -relative symmetry of planum temporale (vs normal asymmetry)

    • Treatment:
    • -adjust environment with tutors and tools
  7. Autism Spectrum Disorder
    • -delays in language and socialization
    • -often a symptom of an underlying neurological disorder

    • Clinical Picture:
    • -reduced eye contact
    • -obsessions with non-toys
    • -obsessions around ordering of objects
    • -echolalia (meaningless repetition of speech)
    • -stereotypies (repetitive useless movements)

    Some show an autistic regression

    **R/O Landau Kleffner Syndrome (epileptic aphasia)

    • Pathophysiology:
    • -unknown
    • -some correlation with head size (may be due to disorder of synaptic pruning)

    • Epidemiology:
    • -1/150
    • -boys > girls
    • -higher risk in siblings
    • -10-20% have genetic etiology

    • Pathology:
    • -changes in cerebellar vermis
    • -abnormal limbic system development

    • Evaluation:
    • -TIME SENSITIVE
    • -screen at 18 months
    • -R/O common metabolic and genetic disorders

    • Treatment:
    • -behavioural Modifications
    • -second gen antipsychotics
  8. Asperger's Syndrome
    • -variant of autism spectrum
    • -delay in socialization but not language
    • -average to above average intelligence ("idiot savant")
  9. Down's Syndrome
    • Epidemiology:
    • -1/700 births
    • -slightly more common in males
    • -Primary Risk factor: advanced maternal age

    • Presentation:
    • -global developmental delay
    • -IQ usually ranges 20-85
    • -bilateral epicanthal folds
    • -midface hypoplasia
    • -flat nasal bridge
    • -open mouth/protruding tongue
    • -CNS: hypotonia, seizures, Alzheimers by 50
    • -Congenital heart defects
    • -leukemias

    • Pathology:
    • -lighter weight brains
    • -simpler gyri
    • -frontal lobes smaller

    • Pathophysiology:
    • -mostly caused by non-disjunction of chromosome 21 in maternal meiosis
    • **mosaicism/Robertsonian translocation: have the facial features but normal intelligence

    • Evaluation:
    • -karyotype
    • -Echo, thyroid studies, CBC, cervical ardiography

    • Treatment:
    • -therapy
  10. Fragile X Syndrome
    *most common cause of inherited mental retardation

    • Epidemiology:
    • -less symptomatic in females than males
    • -1/2500 males

    • Presentation:
    • -delays in language and fine motor skills after 1 year
    • -ADHD features
    • -autism spectrum disorder
    • -long thin face, prominent forehead and jaw, large protruding ears, macroorchidism, joint laxity

    • Complications:
    • -scoliosis
    • -dilatation of aortic root
    • -mitral valve prolapse

    • Pathophysiology:
    • -X-linked dominant
    • -females may show lyonization
    • -abnormal trinucleotide repeat expansion of FMR1 gene
    • -RNA-binding protein
    • -anticipation
  11. Neurofibromatosis type 1
    • Presentation:
    • -cafe-au-lait macules (hyperpigmented)
    • -neurofibromas/plexiform neurofibroma
    • -axillary or inguinal freckling
    • -optic pathway glioma
    • -Lisch nodules (hamartoma in iris)

    • Complications:
    • -increased incidence of tumors

    • Epidemiology:
    • -1/4000
    • -50% are new mutations
    • -autosomal dominant
    • -neurofibromin (TSG)

    • Treatment:
    • -tx tumors according to histopath
    • -vigilance for tumors
  12. Tuberous Sclerosis
    • Presentation:
    • -extremely variable
    • -seizures (80-90%)
    • -mental retardation (50%)
    • -multiple types of skin lesions -hypomelanotic macules
    • -subependymal nodules
    • -facial angiofibromas
    • -lymphangiogmatosis
    • -dental enamel pitting
    • -renal problems

    • Epidemiology:
    • -1/6000 births

    • Pathophysiology:
    • -autosomal dominant
    • -mutations in TSC1 (hamartin) and TSC2 (tuberin) tumor suppressor genes

    • Treatment:
    • -screening: renal U/S, MRI
    • -increased risk for cancers
  13. Neural Tube Defects
    -failure of anterior or posterior neuropores to close (d25 and d27 of gestation)

    -75% could be prevented by folic acid supplementation

    -elevated levels of AFP

    -may be caused by teratogens such as divalproex and carbamazepine
  14. Anencephaly
    • -failure of anterior neuropore to close
    • -both cerebral hemispheres and calvarium are absent

    • Epidemiology:
    • -0.1-0.7/1000 births
    • -many are stillborn, die shortly after birth
  15. Myelomeningocoele
    • "Spina Bifida"
    • -failure to close of posterior neuropore
    • -can occur anywhere along the neural tube
    • -sac containing maldeveloped cord and meninges

    • Mortality approaches 50%
    • Often have associated Arnold Chiari malformation

    • Epidemiology:
    • -4.6/10000 births

    • Treatment:
    • -shunted hydrocephalus: can have normal intelligence
  16. Arnold Chiari malformation
    • -extension of cerebellar vermis that extends into cervical canal
    • -extension of fourth ventricle into cervical canal
    • -hydrocephalus

    In myelomeningocoele thought that the defect fuses to overlying soft tissue and pulls the CNS caudally
  17. Arteriovenous Malformations
    -persistence of an embryonic pattern of blood vessels that can occur anywhere in the CNS

    • Presentation:
    • -most commonly rupture with intracerebral or subarachnoid hemorrhage
    • -less often: seizures, HAs, progressive focal deficits

    • Epidemiology:
    • -1/10000

    • Treatment:
    • -endovascular embolization
    • -surgical resection
  18. Dural AV fistula
    • -great cerebral vein malformation
    • -one of the more frequent symptomatic vascular malformations in infancy and childhood

    -great cerebral vein does NOT develop

    • Presentation:
    • -audible cranial bruit
    • -Neonates: high output CHF
    • -Infants: hydrocephalus, compensated CHF
    • -Children: CHF, hydrocephalus, hemorhage
  19. Cavernous Malformation
    • -distended loosely organized channels of thin collagenized walls
    • -often in cerebellum, pons, subcortical regions

    -often familial

    -bleed as often as AC malformations but the hemorrhages are smaller and asymptomatic
  20. Essential Tremor
    • -8-10 Hz
    • -faster, action tremor
    • -postural
    • -absent or minimal when at rest
    • -usually arm
    • -suppressed by alcohol

    • Epidemiology:
    • -may be genetic (dominant)
    • -415/100000 over 40 years old
    • -most often starts late in 2nd decade

    • Treatment:
    • -beta blockers
    • -barbs
    • -benzos
    • -surgical deep brain stimulation
  21. Tic Disorder and Tourette's Syndrome
    • -quick, involuntary stereotyped movement of phonation
    • -commonly: grunting, blinking, neck jerk
    • -Coprolalia (profanity) is rare
    • -urge to have type
    • -can suppress voluntarily for awhile
    • -relief with tic

    • Transient Tic Disorder:
    • -simple tic for <1yr

    • Chronic Tic Disorder:
    • -may persist into adulthood

    • Tourette's Syndrome:
    • -multiple motor and one or more vocal tics
    • -present for more than 1 year

    • Treatment:
    • -non-pharm unless distressing to child
    • -a2 agonists
    • -antipsychotics
  22. Cerebral Palsy
    • -persistent, non-progressive encephalopathy with motor dysfunction
    • -usually refers to perinatal conditions
    • -implies there was an injury or event
    • -mental retardation in 25-50%
    • -Epilepsy
    • -Behavioural problems
    • -Speech and language disorders

    • Epidemiology:
    • -1.2-2.5 children/1000

    • Characteristic Patterns:
    • 1. Choreoathetotic Cerebral palsy
    • 2. Spastic hemiplegia
    • 3. Spastic quadriplegia
    • 4. Spastic diplegia

    • Treatment:
    • -multidisciplinary
    • -drug treatment for spasticity
    • -PT
    • -occupational therapy
    • -Orthopedic intervention (tendon lengthening)
  23. Choreoathetotic Cerebral Palsy
    • -caused by severe hyperbilirubinemia
    • -damages basal ganglia (kernicterus)
    • -less common now due to phototherapy
  24. Spastic Hemiplegia Cerebral Palsy
    • -stroke in contralateral hemisphere
    • -Stroke in newborn as common as stroke in elderly!!!
  25. Spastic Quadriplegia Cerebral Palsy
    • -global weakness
    • -hypertonia
    • -hyperreflexia
    • -commonly accompanied by mental retardation
    • -due to severe anoxic ischemic brain injury (global injury)
  26. Spastic Diplegia Cerebral Palsy
    • -prominent UMN dysfunction of lower extremities
    • -often seen in preemies
    • -due to hemorrhages in the germinal matrix
  27. Fetal Alcohol Syndrome
    • -most common preventable chemical cause of mental retardation
    • -1.9/1000 children
    • -no safe level of alcohol

    • Presentation:
    • -growth deficiency
    • -microcephaly
    • -mental retardation
    • -craniofacial abnormalities (thin upper lip, flat filtrum)
    • -congenital heart defects
    • -behavioural problems (may be only manifestation)

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