Term
|
Definition
"floppy baby"
decreased resistance to passive movement; lack of motor tone
may localize ANYWHERE in the motor pathway - UMN/CNS, LMN/PNS |
|
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Term
hypotonia localization
features that suggest central |
|
Definition
CNS/UMN - brain or spinal cord
-hypotonia more profound than weakness
-reflexes normal or INcreased
-seizures
-lethargy/decreased alertness
-no PNS features |
|
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Term
hypotonia localization
features that suggest peripheral |
|
Definition
PNS/LMN - anterior horn cell, root, plexus, nerve, NMJ, or muscle
-co-existent weakness
-reflexes DEcreased or absent
-fasciculations
-contractures
-thin ribs/high diaphragm
-no CNS features |
|
|
Term
| causes of central hypotonia |
|
Definition
intra-uterine or perinatal injury
cerebral malformation
chromosomal abnormality
metabolic abnormalities |
|
|
Term
central hypotonia
intra-uterine or perinatal injury causes |
|
Definition
*hypoxic-ischemic damage*
*intraventricular hemorrhage*
toxic exposure
infection |
|
|
Term
central hypoxia
chromosomal abnormality causes |
|
Definition
*Prader-Willi syndrome*
Down
Turner's |
|
|
Term
central hypoxiaintra
metabolic abnormality causes |
|
Definition
hypoglycemia
hyperbilirubinemia
hypothyroidism
leukodystrophy
etc... |
|
|
Term
| causes of peripheral hypotonia |
|
Definition
anterior horn cell causes
radiculopathies, plexopathies
neuropathies
NMJ causes
muscle causes |
|
|
Term
peripheral hypotonia
anterior horn cell causes |
|
Definition
| spinal muscular dystrophy |
|
|
Term
peripheral hypotonia
radiculopathies, plexopathies |
|
Definition
| trauma (i.e. during birth, Klempke's palsy) |
|
|
Term
peripheral hypotonia
neuropathies |
|
Definition
|
|
Term
peripheral hypotonia
NMJ causes |
|
Definition
neonatal myasthenia
congenital myasthenia (rare)
infantile botulism (honey) |
|
|
Term
peripheral hypotonia
muscle causes |
|
Definition
hereditary myopathies
congenital muscular dystrophy |
|
|
Term
|
Definition
slower than normal attainment of developmental milestones
can be due to static or progressive disease |
|
|
Term
|
Definition
loss of milestones that have already been attained
usually due to progressive disease; implies active disease process |
|
|
Term
developmental delay
diagnostic features |
|
Definition
global vs. localized (motor/cog/lang)
age at onset
associated findings (other neuro or non-neuro features) |
|
|
Term
global developmental delay (GDD)
diagnostic categories |
|
Definition
cerebral malformations/dysgenesis
injury to normally forming brain
*GDD most often the result of an infectious, toxic or hypoxic-ischemic injury occurring in utero or perinatally* |
|
|
Term
| cerebral malformations causing GDD |
|
Definition
chromosomal abnormalities (*Fragile X, Prader-Willi*)
toxic/metabolic interference (FAS, maternal PKU)
migration abnormalities (schizencephaly) |
|
|
Term
| injuries to normally formed brain that can cause GDD |
|
Definition
metabolic (hypoglycemia, etc...)
infectious
hypoxia/ischemia
intraventricular hemorrhage-->hydrocephalus |
|
|
Term
|
Definition
chromosomal cause of GDD; the most common inherited cause of MR
expanded triplet repeat in an uncoded region of a gene of the X chromosome that codes for "FRMP"
affects boys more often and severely than girls
MR, AUT, ADHD, characteristic craniofacial features, joint abnormalities, impaired motor skills |
|
|
Term
|
Definition
"Fragile X mental retardation protein"
associates with an RNA-induced silencing complex and destroys mRNA, preventing synthesis of specific proteins
most proteins regulated by FMRP are localized in dendrites
neuronal activity inactivated FMRP, allowing the proteins to be synthesized
probably important for neuronal plasticity / learning
Fragile X: little or no FMRP resulting in continuous protein synthesis that presumably interfere with learning-dependent synaptic changes |
|
|
Term
|
Definition
chromosomal cause of GDD
MR, hypotonia, hypogonadism, short stature, obesity, feeding difficulty in infancy-->insatiable hungry later in childhood
(same gene as Angelman syndrome - mat vs. pat imprinting) |
|
|
Term
types of focal developmental delay
diagnostic categories |
|
Definition
predominantly speech delay
predominantly cognitive delay
predominantly motor delay |
|
|
Term
| focal developmental delay: speech |
|
Definition
*hearing impairment* is most common cause
infantile autism
focal perinatal injury
hereditary factors |
|
|
Term
| focal developmental delay: cognitive |
|
Definition
|
|
Term
| focal developmental delay: motor |
|
Definition
hypotonia --> later spasticity (CP)
paraplegia
ataxia |
|
|
Term
|
Definition
static motor delay
non-progressive (static) abnormality of control of movement or posture due to CNS dysfunction that is NOT progressive or degenerative |
|
|
Term
|
Definition
typically hypotonic in infncy
typically spastic later - with the development of white motor tracts
often weak (varies - hemi/quadri/para-paresis)
sometimes choreoathetosis, ataxia, other motor abnormalities
DO NOT NEED GDD TO HAVE CP |
|
|
Term
|
Definition
all causes of statis global encephalopath also cause CP
no precise cause established in 55-60% of cases
many presumed to be intra-uterine |
|
|
Term
| causes of gait disturbances in childhood |
|
Definition
|
|
Term
|
Definition
cause of gait disturbance
-CP
-leukodystrophie (disease of white matter)
-spinal cord lesions |
|
|
Term
|
Definition
a neurological sign and symptom that consists of gross lack of coordination of muscle movements
can be acute, subacute, chronic |
|
|
Term
|
Definition
*para-infectious* (from infection itself or from body's immune response; esp. seen with varicella)
toxins
trauma
smoke |
|
|
Term
| causes of subacute or chronic ataxia |
|
Definition
*tumor* - always look for neuroblastoma in this scenario!
Freidreich's ataxia
ataxia telangiectasia
malformation (Dandy-Walker)
paraneoplastic |
|
|
Term
|
Definition
seizures
migraines
episodic ataxias
sleep disorders
tics
breath-holding spells |
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