Term
| How many pairs of chromosomes are there for humans? |
|
Definition
|
|
Term
| How many pairs of chromosomes code for sex? |
|
Definition
|
|
Term
| What are the bands on chromosomes? |
|
Definition
|
|
Term
|
Definition
| regions of DNA that controls hereditary characteristics |
|
|
Term
| How do many congenital and chromosomal disorders occur? |
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Definition
|
|
Term
| When do mutations tend to occur? |
|
Definition
|
|
Term
| What are causes for mutations? |
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Definition
|
|
Term
|
Definition
| replication of body cells |
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|
Term
|
Definition
|
|
Term
| What is a medical condition that is present at birth? |
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Definition
|
|
Term
| When can a congenital disorder be recognized? |
|
Definition
| prenatally, at birth, or years later |
|
|
Term
| What are congenital disorders the result of? |
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Definition
| genetic abnormalities, intrauterine environement, a mixture of both, or unknown factors |
|
|
Term
| What are genetic and chromosomal disorders a result of? |
|
Definition
| single-gene trait, chromosomal defect, or both |
|
|
Term
| What distinguishes minor or severe genetic/chromosomal disorders? |
|
Definition
| number of systems effected |
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|
Term
| What is an example of a severe genetic/chromsomal disorder? |
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Definition
|
|
Term
| What is an example of a minor genetic/chromosomal defect? |
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Definition
|
|
Term
| What are the organs affected by cystic fibrosis? |
|
Definition
| sinuses, lungs, skin, liver, pancreas, intenstines, reproductive organs |
|
|
Term
| How are the sinuses affected by cystic fibrosis? |
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Definition
|
|
Term
| How are the lungs affected by CF? |
|
Definition
| thick, sticky mucus build up, bacterial infection, widened airways, blood in mucus |
|
|
Term
| How is the liver affected by CF? |
|
Definition
|
|
Term
| How is the skin affected by CF? |
|
Definition
| sweat glands produce salty sweat |
|
|
Term
| How is the pancreas affected by CF? |
|
Definition
|
|
Term
| How are the intestines affected by CF? |
|
Definition
| cannot fully absorb nutrients |
|
|
Term
| How are the reproductive organs affected by CF? |
|
Definition
|
|
Term
| How do chromosomal defects arise? |
|
Definition
| often from error in meiosis |
|
|
Term
| What error takes place during meiosis to cause chromosomal defects? |
|
Definition
| DNA fragments are displaced or lost |
|
|
Term
| What happens as a result of DNA fragments being lost or displaced? |
|
Definition
|
|
Term
| What is the leading cause of spontaneous abortions? |
|
Definition
|
|
Term
| What is an example of a chromosomal defect? |
|
Definition
|
|
Term
| What are developmental disorders attributed to? |
|
Definition
| problems during labor/delivery, teratogen exposure in utero |
|
|
Term
| When are diagnostic tools recommended? |
|
Definition
| family history of hereditary disease, high risk pregnancies |
|
|
Term
| What are some diagnostic tools? |
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Definition
| blood tests, ultra sound, amniocentesis |
|
|
Term
| What is the role of blood tests? |
|
Definition
| detect abnormal substance in the blood stream |
|
|
Term
| What is the role of ultrasound? |
|
Definition
|
|
Term
| What is the role of amniocentesis? |
|
Definition
|
|
Term
| When is blood drawn for a blood test? |
|
Definition
| between 15-22 weeks of pregnancy |
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|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
| What are the characteristics for trisomy 21/ down's syndrome? |
|
Definition
| hypotonia, cognitive delay, abnormal facial features |
|
|
Term
| What is the etiology for down's syndrome? |
|
Definition
|
|
Term
| What are the possible causes for the faulty meiosis associated with down's syndrome? |
|
Definition
| advanced age of mother, deterioration of oocyte, environmental factors |
|
|
Term
| Where is the extra chromosome located with Down's Syndrome? |
|
Definition
|
|
Term
| What facial features are associated with Down's Syndrome? |
|
Definition
| flattened nose and face, upward slanting eyes, protruding tongue, short limbs, widely spaced eyes |
|
|
Term
| What are the characteristics of the hands associated with Down's Syndrome? |
|
Definition
| single palmer crease, short 5th finger that curves inward |
|
|
Term
| What are the characteristics of the feet associated with Down's syndrome? |
|
Definition
| widely separated first and 2nd toes, increased skin creases |
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|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
| What chromosome is associated with Patau syndrome? |
|
Definition
|
|
Term
| What chromosome is associated with Edward's syndrome? |
|
Definition
|
|
Term
| What are other non-visible manifestations associated with Down's Syndrome? |
|
Definition
| common ear infections, thyroid disfunction, delayed motor skills, cardiac anomalies, joint laxity, scoliosis, GI anomalies |
|
|
Term
| Persons with Down's have higher incidences of what? |
|
Definition
| atlantoaxial instability, obesity, diabetes, CV disease, osteoarthritis, osteoporosis |
|
|
Term
| What is atlantoaxial instablitity? |
|
Definition
| Instablity of the C1 and C2 vertebra |
|
|
Term
| Why is atlantoaxial instability dangerous? |
|
Definition
| increased risk for injury and death |
|
|
Term
| What is Atlantoaxial instability caused by? |
|
Definition
| ligamentous laxity/defect |
|
|
Term
| How is atlantoaxial instability assessed for? |
|
Definition
|
|
Term
| What is the major PTI for Down's Syndrome? |
|
Definition
| caution due to joint laxity, particularly of AA joint |
|
|
Term
|
Definition
|
|
Term
| Joint laxity aside, what should the Therapist focus on? |
|
Definition
| gross and fine motor movements |
|
|
Term
| How should the therapist deal with the potential for obesity, diabetes, and CV disorders in those with Down Syndrome? |
|
Definition
| encourage active lifestyle, discourse sedentary behaviors |
|
|
Term
| When designing and implementing PT plan of care what should the therapist consider when working with those with Down Syndrome? |
|
Definition
| safety and low cognitive level |
|
|
Term
|
Definition
| abnormal lateral curvature of the spine |
|
|
Term
| What does idiopathic mean? |
|
Definition
|
|
Term
|
Definition
|
|
Term
| For known cases of scoliosis, what can be potential causes? |
|
Definition
| osteopathic, myopathic, neuropathic |
|
|
Term
| How is osteopathic scoliosis caused? |
|
Definition
| due to a bony abnormality |
|
|
Term
| How is myopathic scoliosis caused? |
|
Definition
|
|
Term
| How is neuropathic scoliosis caused? |
|
Definition
| nervous system dysfunction |
|
|
Term
| What are signs of scoliosis? |
|
Definition
| uneven shoulders, uneven hips, curve in spine |
|
|
Term
| What are the two types of scoliosis? |
|
Definition
|
|
Term
| What is functional scoliosis? |
|
Definition
| caused by factors other than vertebral malalignment |
|
|
Term
| What is an example of functional scoliosis? |
|
Definition
|
|
Term
| If a functional scoliosis is left untreated |
|
Definition
| may become structural scoliosis |
|
|
Term
| How is functional scoliosis treated? |
|
Definition
| remove/correct the causative factor |
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|
Term
|
Definition
|
|
Term
| What causes congential scoliosis? |
|
Definition
| abnormal embryologic development |
|
|
Term
| How is structural scoliosis caused? |
|
Definition
| spinal asymmetry in the ligaments of the spine, rotation of spine, misshapen vertebrae |
|
|
Term
| What determines the severity of teh resultant impairments with scoliosis? |
|
Definition
|
|
Term
| What is considered a mild case of scoliosis? |
|
Definition
|
|
Term
| What is a severe case of scoliosis? |
|
Definition
| >60 degree's Cobb's angle |
|
|
Term
| What is probable in severe cases of scoliosis? |
|
Definition
| difficulty with visceral function, back pain |
|
|
Term
| If visceral function is compromised due to scoliosis, what device is used for corrective surgery? |
|
Definition
|
|
Term
| What are the role of the Harrington rods? |
|
Definition
| halt progression of curvature, correct deformity, improve alignment, prevent pulmonary complications, reduce pain |
|
|
Term
| What is the role of the therapist with scoliosis? |
|
Definition
|
|
Term
| What therapist interventions are associated with scoliosis? |
|
Definition
| brace, splinting, exercise prescription, E-stim |
|
|
Term
| The efficacy of e-stim for the management of scoliosis is... |
|
Definition
|
|
Term
| When is bracing used in children with scoliosis? |
|
Definition
|
|
Term
| Spinal orthoses have been proven _______ in reducing spinal asymmetery |
|
Definition
|
|
Term
|
Definition
| neural tube defect that occurs at any level of the spine |
|
|
Term
| Where does spina bifida usually manifest? |
|
Definition
|
|
Term
| What is the defect associated with Spina Bifida? |
|
Definition
| incomplete closure of the neural tube |
|
|
Term
| WHen does the embryo's neural tube close? |
|
Definition
| by the 26th day after conception |
|
|
Term
| What does the top of the neural tube become? |
|
Definition
|
|
Term
| What does the rest of the neural tube become? |
|
Definition
|
|
Term
| What defects occur as a result of spina bifida? |
|
Definition
| spinal cord and bones that make up the backbone |
|
|
Term
| What is the etiology for spina bifida? |
|
Definition
| multifactorial, seems to depend on genetic predisposition, teratogens, folic acid levels |
|
|
Term
| What nutrient has reduced the incidence of spina bifida? |
|
Definition
|
|
Term
| What is the natural form of folic acid? |
|
Definition
|
|
Term
| When should folic acid levels be highest? |
|
Definition
| Before the 26th day of pregnancy |
|
|
Term
|
Definition
|
|
Term
| Parents who have a child with a NTD have a ________ chance of subsequent children having NTD |
|
Definition
|
|
Term
| Parents who are diabetic have a _______ risk of having a child with NTD |
|
Definition
|
|
Term
| How is the severity of Spina bifida determined? |
|
Definition
| level of teh lesion and what neural structures are involved |
|
|
Term
| What are the most common effects of spina bifida? |
|
Definition
| motor involvement of teh lower limbs, trunk, resultant muscle imbalances |
|
|
Term
| Muscle imbalances as a result of spina bifida can lead to |
|
Definition
|
|
Term
| What deformity can be a result of teh muscle imbalances as a result of spina bifida? |
|
Definition
|
|
Term
|
Definition
|
|
Term
| What features are associated with Spina Bifida occulta? |
|
Definition
| Dorsum of teh back has a depression or tuft of hair over the level of the NTD |
|
|
Term
| What are common problems associated with Spina Bifida occulta |
|
Definition
| motor weakness of distal legs (Feet), bowel and bladder dysfunction |
|
|
Term
| Is neurologic involvment common with spina bifida occulta? |
|
Definition
|
|
Term
|
Definition
|
|
Term
| Spina Bifida _______ has a visible sac seen on the skin at the level of the NTD |
|
Definition
|
|
Term
| What are the two types of Spina Bifida aperta? |
|
Definition
| meningocele, myelomeningocele |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
| Does a meningocele result in a neurologic invovlement? |
|
Definition
|
|
Term
| What does the protruding sac of teh meningocele filled with? |
|
Definition
| spinal fluid and meninges, covered by skin |
|
|
Term
| IS there spinal cord involvement with meningoceles? |
|
Definition
|
|
Term
| Myelomeningcocele's are filled with what? |
|
Definition
| meninges, spinal fluid, spinal cord |
|
|
Term
| Myelomeningocele's may also have this structure depending upon the level of the lesion |
|
Definition
|
|
Term
| What are the problems associated with a myelomeningocele? |
|
Definition
| tonal changes, bowel bladder dysfunction, musculoskeletal deformities, hydrocephalus, abnormal righting reflexes, potential mental retardation |
|
|
Term
| What musculoskeletal deformites are associated with myelomeningoceles? |
|
Definition
|
|
Term
|
Definition
| excessive accumulation of CSF in the brain |
|
|
Term
| What happens as a result of CSF accumulation in the brain? |
|
Definition
| dilation of the ventricles of the brain |
|
|
Term
| Potentially harmful pressure on the tissues of the brain is a result of what? |
|
Definition
|
|
Term
| What is the Arnold Chiari malformation? |
|
Definition
| cerebellar portion of the brain herniates, or protrudes into the psinal canal |
|
|
Term
| What is Arnold Chiari malformation associated with? |
|
Definition
|
|
Term
| What is a potential danger of Arnold Chiari malformation? |
|
Definition
| brain pushes onto cranial nerves |
|
|
Term
| What does the myelomeningocele have that the meningocele does not? |
|
Definition
| presence of the spinal cord |
|
|
Term
| Spina Bifida: The therapist should focus on |
|
Definition
| PROM, gentle strengthening, asssessing motor function and sensation, functional training |
|
|
Term
| Spina Bifida: The therapist should focus on |
|
Definition
| education, prevention of secondary complications |
|
|
Term
| What secondary complications are associated with spina bifida? |
|
Definition
| skin breakdown, shunt malfunctions |
|
|
Term
| Spina Bifida: What should the therapist focus on? |
|
Definition
| bracing, adpative equipemnt, assistive devices |
|
|
Term
|
Definition
| developmental dysplasia of the hip |
|
|
Term
|
Definition
| in utero, first year of life |
|
|
Term
| The hips may be, _____, ______, or _____ due to DDH |
|
Definition
| unstable, subluxed, completely dislocated |
|
|
Term
|
Definition
| easily dislocated with manipulation |
|
|
Term
|
Definition
|
|
Term
| DDH: completely dislocated |
|
Definition
| femoral head does not articualte with acetabulum |
|
|
Term
|
Definition
| hormonal or hereditary laxity of ligaments surrounding the hip joints |
|
|
Term
| What else can DDH be caused by? |
|
Definition
| prenatal or post natal positioning |
|
|
Term
| What hip position decreases risk of DDH? |
|
Definition
| flexed, abducted, and externally rotated |
|
|
Term
| What increases risk for DDH |
|
Definition
|
|
Term
| Clinical picture: non-walkers |
|
Definition
| asymmertrical ROM, anatomical landmarks, extra thigh skin folds, LLD |
|
|
Term
| Clinical picture: walkers |
|
Definition
| antalgic, waddling, or tendelenberg gait |
|
|
Term
| DDH: pre-op pt interventions: |
|
Definition
| education regarding best positining and handling of baby, strenthening exercises |
|
|
Term
| DDH: post-op PT interventions: |
|
Definition
|
|
Term
| What is the Pavlik harness used for? |
|
Definition
|
|
Term
| When is surgery for DDH potentially necessary? |
|
Definition
| conservative measures fail, diagnosis after 2 years of age |
|
|
Term
| WHat does the surgery for DDH do? |
|
Definition
|
|
Term
| Following surgery, what is put on the baby to hold the hips in place? |
|
Definition
|
|
Term
| How long is the spica cast worn for post surgery? |
|
Definition
|
|
