Down syndrome
People with intellectual disability can have limitations with what two things?
intellectual functioning and adaptive behavior
50%
what is mosaicism
a type of down syndrome where there is a mixture of 2 types of cells some containing the usual 46 chromosomes and some containing 47. those with 47 contain an extra chromosome 21, they may have fewer characteristics of down syndrome and is the least common type
what are the primary impairments and secondary impairments
primary: muscles weakness
secondary: joint contractures, postural alignment, respiratory complications, etc.
what are some classical clinical features 4-5 years old
enlargement of the posterior calf due to infiltration of fatty and connective tissue; no ROM limitations before age 5, tightness of the gastro-soleus, scapular winging, increased lumbar lordosis (COM is behind hip joint due to weakness), weakness of neck flexors, abdominals,intrascapular, hip extensors
what IQ test score indicates a limitation in intellectual functioning?
what is the average intelligence
70-75
average is 90-109
what are the most common causes of intellectual disabilities?
down syndrome, fetal alcohol syndrome, fragile X syndrome
what is translocation?
the total number of chromosomes in the cells remains 46, an additional full or partial copy of chromosome 21 attaches to another chromosome (usually 14), the presence of the extra full or partial chromosome 21 causes the characteristics of down syndrome
fragility in muscle membrane stability during muscle contraction, relative muscle hypoxia as result of an aberrant vascular response to exercise, progressive loss of muscle contractility caused by the destruction of myofibrils and replacement with fat and connective tissue
at what age should we start seeing gowers sign
5 years old
what is the Developmental Disabilities Assistance and Bill of Rights Act of 2000
defined developmental disabilities a severe, chronic disability that is attributed to a physical or mental disability that is likely to continue throughout the persons life and results in functional limitations in three or more areas of life activities, NO IQ required, age of onset can be as high as 22 years
what are some ways intellectual disability is diagnosed?
-prenatal & neonatal diagnosis can predict disabilities that may not be seen yet
-medical diagnosis isn't made until functional impairments have been documented
-delay in achievement of developmental motor milestones or abnormal motor behaviors
-regression of normal development
when can children with down syndrome typically walk
what is the most common and most severe type of muscular dystrophy
Duchenne
what is egen klassification scale and what is it used for
what is vignos functional scale
EKS- functional ability in non-ambulatroy people with Duchenne muscular dystrophy DMD or spinal muscle atrophy (SMA)
For DMD management of progressive muscular dystrophy
what is the disability act of 1984
provide habilitation, medical, and social services for children and adults with intellectual disabilities and in some states for people with other disabilities
what are the common characteristics of down syndrome
low muscle tone, small stature, upward slant to eyes, deep single crease across the center of the palm
What are some conditions or disorders associated with down syndrome
congenital heart disease, vision deficits, hearing impairments, infections, hypothyroidism, blood disorders (acute myeloid leukemia, acute lymphoblastic leukemia), hypotonia, atlantoaxial instability, epilepsy, digestive problems, celiac disease, obesity, periodontal disease, risk of early onset Alzheimer type dementia
what is the goal of medical management with muscular dystrophy
prevention of contractures and preservation of independent mobility
what exercises are controversial and what can we do instead
Resistive exercise in young children should NOT be universally prescribed, AVOID high resistance and eccentric
cycling and swimming are recommended for overall conditioning, standing or walking for 2-3 hours per day
what is Rosa's Law
changed references to mental retardation in health education and labor policy to intellectual disability
what is trisomy 21
a type of down syndrome where it is usually caused by an error in cell division called nondisjunction->(results in an embryo w/ 3 copies of chromosome 21 instead of 2); prior to or at conception a pair of 21st chromosomes in either sperm or the egg fails to separate, as the embryo develops the extra chromosome is replicated in every cell of the body (the most common type of down syndrome)
what are some causes of down syndrome
typically unknown but maternal age has been linked w/ an increased chance of having a baby w/ down syndrome, due to high birth rates 80% of children with down syndrome are born to women under 35 yrs of age, no definitive scientific environmental cause, the partial or full copy of the 21st chromosome can be linked to either father or mother
what can long term steroid use help with in muscular dystrophy?
what are some side effects?
improve muscle strength perhaps by reducing inflammation and cell necrosis; prolong standing and ambulation
side effects: weight gain, growth suppression, osteoporosis
what happens if knee extension lag and hip extension lag is greater than 90 degrees?
independent ambulation will cease within a few months