What is Duchenne Muscular Dystrophy?
X-linked genetic disorder causing absence of dystrophin, leading to progressive muscle degeneration and weakness
Typically leads to death in early teens.
Define Dyskinetic cerebral palsy.
CP characterized by involuntary, uncontrollable, rhythmic or writhing muscle movements
Associated with damage to the basal ganglia.
What is Dysautonomia?
Related to neurological injury, especially in acquired brain injuries; treatment includes hydration, avoiding triggers, medications
Examples include POTS and neurocardiogenic syncope.
What is the Early Start Denver Model?
Approach focusing on joint attention and shared interaction using a naturalistic applied behavioral approach for children under 4
Emphasizes early intervention.
What does the Eating and Drinking Ability Classification System do?
Classifies motor skills and safety when eating into 5 levels
Uses a decision tree for assessment.
What is Fragile X Syndrome?
X-linked dominant disorder causing learning and cognitive disabilities
Most common inherited cause of intellectual disability.
What is a Full and Individualized Evaluation (FIE)?
Testing to determine eligibility for special education
Essential for identifying student needs.
What is the Functional Communication Scale?
Series of 7-point rating scales assessing aspects of functional communication and swallowing
Example: Level 7 = most functional.
Define Global developmental delay.
Significant delays in 2 or more areas of development
Affects cognitive, physical, and social skills.
What is the Gross Motor Functional Classification Scale (GMFCS)?
5-level system used to classify severity of gross motor function impairments in individuals with CP
Example: Level 1 = most independent.
What does Hepatic refer to?
Descriptor of a condition relating to the liver
Important in various medical contexts.
What is Hypoplastic left heart syndrome?
Underdeveloped and thickened wall of the left ventricle associated with aorta underdevelopment needing 3 surgeries in first 2 years
Critical congenital heart defect.
Define Hypoxic-Ischemic Encephalopathy.
Brain injury caused by insufficient oxygen and blood supply, typically occurring before, during, or shortly after birth
Can lead to severe neurological impairments.
What is an Ischemic stroke?
Interruption of blood flow to parts of the brain caused by a blocked blood vessel
Common cause of stroke.
What is Kernicterus?
Brain damage from untreated severe jaundice, causing athetoid cerebral palsy, hearing loss, vision deficits, and learning disabilities
Critical condition requiring prompt treatment.
What does the Manual Ability Classification Scale (MACS) assess?
Classifies level of functional hand use in children diagnosed with cerebral palsy across 5 levels
Useful for therapy planning.
Define Meningocele.
Type of spina bifida where protective layer around spinal cord pushes through spinal column; partial to full recovery with surgery
Less severe than myelomeningocele.
What are Metabolic Disorders?
Group of rare disorders involving defective genes that may not produce enzymes or produce them in smaller quantities
Can lead to various health issues.
What are Mitochondrial disorders?
Inherited mutated maternal genetic material causing cell dysfunction by disrupting energy production
Affects high-energy organs like brain, heart, and muscles.
What is the Modified Tardieu Scale used for?
Tool to measure spasticity in muscles and their response to movement
Primarily used in Cerebral Palsy.
What are the Mullen Scales of Early Learning?
Standardized assessment to evaluate cognitive and motor development from birth to 5:8 years
Assesses GM, FM, VP, and language.
What does Multi-Tiered Systems of Support (MTSS) refer to?
3 tiers of support in education: 1=general education, 2=at-risk children with targeted interventions, 3=intensive strategies/special education
Aims to provide appropriate support for all students.
What is Muscular dystrophy?
Group of muscle diseases caused by genetic mutation characterized by progressive weakness and degeneration of skeletal muscles
Affects movement control.
Define Myelomeningocele.
Most severe form of spina bifida; spinal cord and surrounding tissues protrude through lumbar/sacral region
Often leads to significant disabilities.